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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
small superior vagus ganglion	Enam^em1(IMPC)Tcp	HOM	Early adult
abnormal heart morphology	Enam^em1(IMPC)Tcp	HOM	Early adult
enlarged heart	Enam^em1(IMPC)Tcp	HOM	Early adult
hydrometra	Enam^em1(IMPC)Tcp	HOM	Early adult

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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 Dorso Ventral

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X-ray

XRay Images Whole Body Lateral Orientation

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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 (1238 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		Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650

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

Disease	Matching phenotypes	Source
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	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	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Diastema, Dental Medial	Diastema, Widely-spaced maxillary central incisors	OMIM:125900
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, 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
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	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	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Anonychia-Microcephaly Syndrome	Carious teeth, Abnormality of the dentition	ORPHA:1094
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate	OMIM:217150
Dentin Dysplasia	Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia	OMIM:226650
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Taurodontism	Taurodontia	OMIM:272700
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Trichodentoosseous Syndrome	Microdontia, Taurodontia, 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
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Scarring alopecia of scalp, Dental enamel pits	OMIM:619787
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition	OMIM:125440
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia	ORPHA:2871
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Jalili Syndrome	Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta	ORPHA:1873
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Stimmler Syndrome	Microdontia, Abnormal dental enamel morphology	ORPHA:3199
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b...	ORPHA:1946
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters	ORPHA:79402
Neuronal Intestinal Pseudoobstruction	Natal tooth, Congenital diaphragmatic hernia	ORPHA:99811
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
17Q11.2 Microduplication Syndrome	Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology	ORPHA:139474
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Atrophic scars, Enamel hypoplasia	OMIM:226700
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau...	ORPHA:3352
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture	OMIM:203550
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia	OMIM:613576
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border	ORPHA:363523
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca...	ORPHA:251393
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Alopecia Antibody Deficiency	Abnormality of dental color	ORPHA:1006
Heimler Syndrome 2	Dental crowding, Amelogenesis imperfecta	OMIM:616617
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth	ORPHA:248
Junctional Epidermolysis Bullosa Inversa	Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia	ORPHA:79405
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta	ORPHA:71267
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Atkin-Flaitz Syndrome	Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor...	ORPHA:1193
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m...	ORPHA:952
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Trichodental Dysplasia	Odontodysplasia, Hypodontia, Conical tooth	OMIM:601453
Immunodeficiency 33	Delayed eruption of teeth, Hypodontia, Conical tooth	OMIM:300636
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Increased connective tissue	OMIM:226670
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Hall-Riggs Syndrome	Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary teeth, U-Shape...	OMIM:234250
Microcephalic Primordial Dwarfism, Toriello Type	Downturned corners of mouth, Enamel hypoplasia	ORPHA:2643
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion	OMIM:601957
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Late-Onset Junctional Epidermolysis Bullosa	Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia	ORPHA:79406
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hypodontia	ORPHA:63442
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Hypodontia	OMIM:616029
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor	OMIM:620062
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia	OMIM:612463
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
48,Xyyy Syndrome	Thick lower lip vermilion, Irregularly spaced teeth, High palate, Long philtrum, Enamel hypoplasia	ORPHA:99329
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Microretrognathia, Inguinal hernia, Hip contracture, Micrognathia, Carious...	OMIM:618363
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Self-Improving Dystrophic Epidermolysis Bullosa	Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79411
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis	OMIM:217080
Catifa Syndrome	Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Long phi...	OMIM:618761
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Usher Syndrome Type 2	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:231178
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth	OMIM:161000
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Ectodermal Dysplasia-Syndactyly Syndrome 1	Enamel hypoplasia, Widely spaced teeth, Conical tooth	OMIM:613573
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Anonychia With Flexural Pigmentation	Carious teeth	ORPHA:69125
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,...	ORPHA:1133
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Hypodontia	OMIM:601345
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Increased circulating lactate dehydrogenase con...	ORPHA:232
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate	ORPHA:3019
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi...	OMIM:618729
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization	ORPHA:494444
Vascular Malformation, Primary Intraosseous	Umbilical hernia, Ectopic tooth eruption, Gingival bleeding	OMIM:606893
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia	OMIM:612843
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Cranioectodermal Dysplasia	Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v...	ORPHA:1515
Seckel Syndrome 5	Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Ename...	OMIM:613823
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma...	ORPHA:166108
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Achilles tendon contracture, Dental malocclusion, Widely-spaced maxilla...	OMIM:619719
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Hypodontia, Shagreen patch	ORPHA:1816
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Filippi Syndrome	Thin vermilion border, Short philtrum, Hypodontia, Microdontia, Serrated incisors	OMIM:272440
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide...	OMIM:300602
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta	ORPHA:166277
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Micrognathia, Hypodontia, Malar flattening, Enamel hypoplasia	OMIM:212780
Nance-Horan Syndrome	Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor	OMIM:302350
Ethanolaminosis	Cardiomegaly	OMIM:227150
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Intellectual Developmental Disorder, Autosomal Dominant 21	Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Incisor macrodontia	OMIM:615502
Rubinstein-Taybi Syndrome 2	Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High palate, Increas...	OMIM:613684
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Increa...	OMIM:261000
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion	ORPHA:181
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Scarring alopecia of scalp, Short philtrum, Cleft palate	OMIM:617337
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Advanced eruption of teeth, High palate	OMIM:262190
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Abnormal dental enamel morphology	ORPHA:2238
Bent Bone Dysplasia Syndrome 1	Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia	OMIM:614592
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Mulibrey Nanism	Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Hypodo...	OMIM:253250
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Hypoplasia of teeth	OMIM:613312
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti...	ORPHA:69087
Lacrimoauriculodentodigital Syndrome 3	Carious teeth, Enamel hypoplasia, Widely spaced teeth	OMIM:620193
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Pulp calcification, Taurodontia, Enamel hypoplasia	OMIM:211900
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig...	OMIM:269300
Short Stature, Dauber-Argente Type	Delayed eruption of teeth	OMIM:619489
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hypodontia, Scarring alopecia of scalp, Oligodontia, Abnormal dental enamel morphology	ORPHA:59303
Pachyonychia Congenita 2	Oral leukoplakia, Natal tooth, Angular cheilitis	OMIM:167210
Osteosclerotic Metaphyseal Dysplasia	Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Failure ...	OMIM:615198
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	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ...	ORPHA:2919
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, T...	OMIM:619980
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
Recessive Dystrophic Epidermolysis Bullosa Inversa	Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters	ORPHA:79409
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli...	OMIM:618727
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow	OMIM:618506
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Pachyonychia Congenita	Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia	ORPHA:2309
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth	OMIM:609638
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To...	ORPHA:2863
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Abnormal palate morphology	ORPHA:3236
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Micrognathia	OMIM:616901
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia	ORPHA:1802
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Atrophic scars, Keloids, Enamel ...	ORPHA:79410
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:3145
Temtamy Preaxial Brachydactyly Syndrome	Diastema, Deep philtrum, Talon cusp, Cleft palate, Microdontia	OMIM:605282
Snijders Blok-Campeau Syndrome	Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Umbilical hernia, Enamel hypoplasia	OMIM:618205
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene...	OMIM:613849
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Atrophic scars, Enamel hypoplasia, Arthrogryposis multiplex congenita, Oral mucosal blisters	OMIM:226730
Oculoskeletodental Syndrome	Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia, Retrognathia	ORPHA:557003
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Carious teeth, Multicystic kidney dysplasia, Abnormal palate morphology, Abnormality of the denti...	ORPHA:3270
Qazi-Markouizos Syndrome	High, narrow palate, Open mouth, Broad philtrum, Hypoplasia of teeth	ORPHA:3010
Eem Syndrome	Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely spaced teeth, Microdo...	ORPHA:1897
Melorheostosis With Osteopoikilosis	Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Maxillonasal Dysplasia, Binder Type	Dental malocclusion	OMIM:155050
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Omphalocele	OMIM:614450
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta	OMIM:610967
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta	OMIM:259440
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphology, Open bi...	ORPHA:10
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Advanced eruption ...	OMIM:617865
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H...	OMIM:619736
Odontochondrodysplasia	Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta	ORPHA:166272
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia	OMIM:614381
Cockayne Syndrome Type 2	Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Flexion contracture, Widely s...	ORPHA:90322
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta	OMIM:301014
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Congenital Disorder Of Glycosylation, Type Iik	Malar flattening, Amelogenesis imperfecta	OMIM:614727
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Lipodystrophy, Increas...	ORPHA:199276
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Malar flattening, Enamel h...	OMIM:618874
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Ankle flexion contracture, Micrognathia	OMIM:617802
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase...	ORPHA:3202
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Camptodactyly, Flexion contracture, Accessory oral frenulum, Hypoplasia of teeth	ORPHA:88630
Metaphyseal Chondrodysplasia, Spahr Type	Carious teeth, Abnormality of the dentition	ORPHA:2501
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Osteogenesis Imperfecta, Type Xxii	Dentinogenesis imperfecta	OMIM:619795
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Narrow mouth, Ename...	OMIM:226600
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth	ORPHA:3238
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum	OMIM:618825
Immunodeficiency 10	Amelogenesis imperfecta	OMIM:612783
Immunodeficiency 49	Natal tooth, Umbilical hernia, Short philtrum, Micrognathia	OMIM:617237
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	OMIM:157980
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Enamel hypoplasia	OMIM:612462
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope...	OMIM:618849
Sjögren-Larsson Syndrome	Abnormal dental enamel morphology	ORPHA:816
Acrofacial Dysostosis, Catania Type	Carious teeth	OMIM:101805
Trichothiodystrophy 3, Photosensitive	Carious teeth, Natal tooth, Eclabion	OMIM:616395
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Increased ...	ORPHA:2169
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Lipodystrophy, Cellulitis, Advanced er...	ORPHA:2348
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth	OMIM:619356
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Failure to thrive, Conjugated hyperbilirubin...	OMIM:607765
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Teebi Hypertelorism Syndrome 1	Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Micrognathia, Long philtrum	OMIM:145420
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Gingi...	ORPHA:137834
Rapp-Hodgkin Syndrome	Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c...	OMIM:129400
Laron Syndrome	Microdontia, Tooth agenesis, Delayed eruption of teeth, Micrognathia	ORPHA:633
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increased mean corpusc...	OMIM:616689
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Macroglossia...	OMIM:610253
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ...	OMIM:617021
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion	OMIM:619692
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Enamel hypoplasia	OMIM:103580
Usher Syndrome	Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology	ORPHA:886
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Camptodactyly of finger, Taurodontia, Abnormal dental enamel morphology, Abnormality of the denti...	ORPHA:3220
Ohdo Syndrome	Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narrow mouth, Smoo...	OMIM:249620
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, High palate, Dental malocclusion	OMIM:618292
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W...	OMIM:618067
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased m...	ORPHA:98870
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Thick vermilion border, Hypodo...	OMIM:619184
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Abnormality of the dentition	ORPHA:2776
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth	OMIM:619797
Immunodeficiency 9	Stomatitis, Recurrent aphthous stomatitis, Amelogenesis imperfecta	OMIM:612782
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ...	ORPHA:884
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology	ORPHA:1782
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ...	ORPHA:363417
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Absent leukocyte alkaline phosphatase	OMIM:242880
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia	OMIM:601809
Scarf Syndrome	Inguinal hernia, Long philtrum, Umbilical hernia, Enamel hypoplasia, Hypocalcification of dental ...	ORPHA:3134
Hypophosphatasia, Childhood	Carious teeth, Premature loss of primary teeth	OMIM:241510
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure	ORPHA:46532
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den...	OMIM:614669
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Malar flattening, High palate, Abnormal dental enamel morphology	ORPHA:2180
Pycnodysostosis	Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna...	OMIM:265800
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m...	ORPHA:2107
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Dental malocclusion, Abnormality of the dentition	ORPHA:1858
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the...	OMIM:170390
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r...	OMIM:218400
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Flexion contracture, Dental malocclusion, Wide...	OMIM:619293
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo...	ORPHA:50814
Tricho-Retino-Dento-Digital Syndrome	Oligodontia, Supernumerary tooth, Abnormality of the dentition	ORPHA:1264
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc...	OMIM:257850
Hypophosphatasia, Adult	Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t...	OMIM:146300
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Malar flattening, Dental malocclusion, Widely spaced teeth	OMIM:616108
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermilion, Overjet, ...	OMIM:618342
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine...	OMIM:620366
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo...	OMIM:225500
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Elbow flexion contr...	OMIM:210600
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, Natal tooth, Cleft palate	ORPHA:158687
Craniosynostosis 3	Dental malocclusion	OMIM:615314
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma...	ORPHA:2751
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles	OMIM:264270
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
4H Leukodystrophy	Delayed eruption of teeth, Hypodontia, Abnormality of the dentition	ORPHA:289494
Acrocraniofacial Dysostosis	Advanced eruption of teeth, Short philtrum, Cleft palate, Micrognathia	ORPHA:949
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia	ORPHA:3319
Pycnodysostosis	Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl...	ORPHA:763
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Inguinal hernia, Abnormality of the dentition, Thick lower lip vermilion, Umbilical ...	ORPHA:261652
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip	OMIM:616788
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Oslam Syndrome	Carious teeth	ORPHA:2760
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Macroglossia, Camptodactyly, High palate, Thick vermi...	OMIM:616354
Acrootoocular Syndrome	Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth...	ORPHA:2980
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t...	ORPHA:192
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Oligodontia, Hypodontia, Enamel hypoplasia	OMIM:607626
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth	OMIM:272300
Cranioectodermal Dysplasia 4	Thin vermilion border, Smooth philtrum, Taurodontia	OMIM:614378
Coffin-Siris Syndrome 3	Inguinal hernia, Central diaphragmatic hernia, Cleft palate, Wide mouth, Macroglossia, Delayed er...	OMIM:614608
Multiple Pterygium-Malignant Hyperthermia Syndrome	Inguinal hernia, Exaggerated cupid's bow, Camptodactyly of finger, Narrow mouth, Abnormal mandibl...	ORPHA:2215
Mucopolysaccharidosis Type 4	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W...	ORPHA:582
Blepharo-Cheilo-Odontic Syndrome	Carious teeth, Bilateral cleft lip and palate, Conical tooth	ORPHA:1997
Anti-Glomerular Basement Membrane Disease	Persistence of primary teeth	ORPHA:375
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphol...	ORPHA:96263
Familial Expansile Osteolysis	Osteolysis, Elevated circulating alkaline phosphatase concentration, Pathologic fracture, Prematu...	OMIM:174810
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormality of dental color	OMIM:163200
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum	OMIM:156510
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume...	OMIM:611590
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Enamel hypoplasia, Carious teeth	OMIM:277440
Specific Granule Deficiency 2	Amelogenesis imperfecta, Tooth malposition, Conical tooth	OMIM:617475
Van Buchem Disease	Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Cranial ...	OMIM:239100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Elevated circulating alkaline phosphatase concentration, Increased spinal bone density, Recurrent...	ORPHA:329475
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Micrognathia, Cleft l...	OMIM:619148
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Inguinal hernia, Thick lower lip vermilion, Cleft palate, Wide mouth, ...	OMIM:614607
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ...	ORPHA:438216
Brittle Cornea Syndrome 1	Atypical scarring of skin, Dentinogenesis imperfecta	OMIM:229200
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Increased circul...	OMIM:613839
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Oligodontia, Absent...	OMIM:224300
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	ORPHA:2563
Osteoglosphonic Dysplasia	Tooth agenesis, Multiple unerupted teeth, Inguinal hernia, Micrognathia	ORPHA:2645
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ...	ORPHA:98850
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microdontia, Widely spaced teeth, Cleft palate, Hypoplasia of teeth	ORPHA:2728
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ...	OMIM:150400
Knobloch Syndrome 2	Enamel hypoplasia, Micrognathia	OMIM:618458
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Flexion contracture	OMIM:617105
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth, Camptodactyly	OMIM:246560
Cole-Carpenter Syndrome 1	Microdontia, Dentinogenesis imperfecta, Micrognathia	OMIM:112240
Temtamy Syndrome	Long philtrum, Dental crowding, Hypoplasia of teeth, Micrognathia	OMIM:218340
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ...	ORPHA:37553
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Camptodactyly of finger, Cigarette-paper scars, Dental malocclusion, H...	OMIM:612350
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Kilquist Syndrome	Mandibular prognathia, Wide mouth, Hypoplasia of teeth	OMIM:619080
Trisomy 4P	Smooth philtrum, Camptodactyly of finger, Abnormality of the dentition, Carious teeth, Abnormal p...	ORPHA:1738
Cherubism	Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod...	OMIM:118400
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over...	ORPHA:420561
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Microdontia, Agenesis of molar, Supernumerary tooth, Diastema	OMIM:619718
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Wide mouth, Enamel hypoplasia, Bifid uvula, Abnormality of the dentition	OMIM:615802
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Narro...	ORPHA:2063
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	High palate, Persistence of primary teeth	OMIM:147060
Aarskog-Scott Syndrome	Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Cleft upper lip, Hypoplasia ...	ORPHA:915
Char Syndrome	Persistence of primary teeth, No permanent dentition, Thick vermilion border, Everted lower lip v...	ORPHA:46627
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Micrognathia, Carious teeth, Flexion contracture, Elbow flexion contra...	OMIM:214150
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Pancytopenia, Osteomyelitis, Increased circulating lactate dehydr...	OMIM:259700
Flynn-Aird Syndrome	Carious teeth	OMIM:136300
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis...	OMIM:122860
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C...	ORPHA:96264
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hypertriglyceridemia, Failure to thrive in infancy, Hyperlipidemia...	OMIM:232700
Chylomicron Retention Disease	Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho...	OMIM:246700
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum	ORPHA:93945
Lowry-Maclean Syndrome	Inguinal hernia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High...	ORPHA:2409
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic...	OMIM:616860
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion	OMIM:615541
Kabuki Syndrome 2	Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, High palate, Hypodontia	OMIM:300867
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Narrow palate, Short upper lip, Thick vermilion border, Short philtrum, Ma...	ORPHA:364028
Raine Syndrome	Mandibular prognathia, Natal tooth, Micrognathia, Protruding tongue, Gingival overgrowth, Cleft p...	OMIM:259775
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia	ORPHA:2050
Brachydactyly, Type B1	Joint contracture of the hand, Delayed eruption of permanent teeth, Camptodactyly	OMIM:113000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Enamel hypoplasia	OMIM:264700
Fgfr2-Related Bent Bone Dysplasia	Natal tooth, Gingival overgrowth, Micrognathia	ORPHA:313855
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Joint hypermobility, Thrombocytopenia, Exo...	OMIM:617052
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79303
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum, Thick vermilion bor...	OMIM:620250
Codas Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1458
Diamond-Blackfan Anemia 6	Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume, Tracheomalacia...	OMIM:612561
Proteus Syndrome	Splenomegaly, Mandibular hyperostosis, Multiple lipomas, Lipoma, Calvarial hyperostosis, Facial h...	OMIM:176920
Corneodermatoosseous Syndrome	Carious teeth, Abnormal dental enamel morphology, Gingivitis	ORPHA:3194
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vaginal hernia, Macrodontia, Abnormal dental enamel morphology, Cleft pala...	ORPHA:2916
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, Arthrogryposis multiplex congenita, High palate, Dental malocclusion	OMIM:608931
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Carious teeth, Limb joint contracture, Reduced subcutaneous adipose tissue, Hypodontia	OMIM:612079
Paget Disease Of Bone 4	Elevated circulating alkaline phosphatase concentration, Osteolysis	OMIM:606263
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Macrodontia of perm...	OMIM:216550
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Carious teeth, Malar flattening, Retrognathia, Abnormal palate morphology	ORPHA:1390
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Submucous cleft hard palate, Cleft palat...	ORPHA:2712
Congenital Disorder Of Glycosylation, Type Iil	Enamel hypoplasia, Retrognathia	OMIM:614576
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Torus palatinus	OMIM:144750
Maxillonasal Dysplasia	Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Cleft palate, Tooth agenesis, Microd...	ORPHA:1248
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, H...	ORPHA:811
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth	OMIM:137550
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth	ORPHA:457365
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's...	ORPHA:261494
Dysostosis, Stanescu Type	Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario...	ORPHA:1798
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase	OMIM:162830
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:602483
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Potocki-Lupski Syndrome	Mandibular prognathia, Dental crowding, Small for gestational age, Micrognathia, Dental malocclus...	OMIM:610883
Xfe Progeroid Syndrome	Premature loss of teeth, Absence of subcutaneous fat, Enamel hypoplasia, Corneal scarring	OMIM:610965
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou...	ORPHA:2457
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Abnormal lactate dehydrogenase level, ...	ORPHA:668
Sotos Syndrome	Mandibular prognathia, High, narrow palate, Narrow jaw, Narrow palate, High palate, Advanced erup...	OMIM:117550
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami...	OMIM:615558
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Abnormality of the dentition, Rickets, Elevated circulating alkaline phosphatase co...	OMIM:193100
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Megaloblastic ...	OMIM:277410
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Hamamy Syndrome	Thin upper lip vermilion, Inguinal hernia, Micrognathia, Dental malocclusion, Wide mouth, High pa...	OMIM:611174
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion	OMIM:616202
Scarf Syndrome	Umbilical hernia, Enamel hypoplasia, Inguinal hernia, Long philtrum	OMIM:312830
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product...	ORPHA:231222
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Camptodactyly of finger, Open bite, Abnormality of dental eruption, Dental...	ORPHA:1327
Majeed Syndrome	Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatospl...	OMIM:609628
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Inguinal hernia, Necrotizing enterocolitis, Elevated circulating cre...	OMIM:616809
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper...	ORPHA:819
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Malar flattening, Fa...	OMIM:266510
Three M Syndrome 2	Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru...	OMIM:612921
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,...	OMIM:164200
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:93950
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta	OMIM:166220
Short Syndrome	Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the dentition, ...	ORPHA:3163
Cockayne Syndrome Type 1	Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnor...	ORPHA:90321
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Micrognathia, Abn...	ORPHA:3253
Osteogenesis Imperfecta, Type Xi	Dentinogenesis imperfecta	OMIM:610968
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increased mean corpusc...	OMIM:185000
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Retrognathia	ORPHA:466722
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Diarrhea, Steatorrhea, Vomit...	ORPHA:71
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Micrognathia	OMIM:259420
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	ORPHA:280365
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Widely-spaced incisors	OMIM:618737
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Carious teeth, Widely spaced teeth, Yellow-brown discoloration of the ...	OMIM:619229
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Flexion contracture, Long philtrum	ORPHA:263463
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Hiatus hernia, Umbilical hernia, Dental crowding, Persistence of primary teeth	OMIM:619769
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening	OMIM:241310
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced ...	OMIM:253000
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:289157
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia	ORPHA:447896
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c...	OMIM:600081
Ck Syndrome	Abnormal cortical bone morphology, Slender build, Joint hypermobility	OMIM:300831
Odontochondrodysplasia 1	Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum	OMIM:184260
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology	ORPHA:3353
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Elevated alkaline phosphatas...	ORPHA:398063
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi...	OMIM:608612
Cholestasis, Progressive Familial Intrahepatic, 10	Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Jau...	OMIM:619868
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla	OMIM:618302
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Esophagitis, Neut...	OMIM:612562
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating alkaline p...	OMIM:600785
Mcdonough Syndrome	Mandibular prognathia, Micrognathia, Open bite, Dental malocclusion, Short philtrum, Abnormal pal...	ORPHA:2471
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Carious teeth, Joint contracture of the 5th finger, Camptodactyly of finger	ORPHA:1883
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Enamel hypoplasia	OMIM:243150
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Crowded maxillary incisors	ORPHA:397973
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Failure to thrive, Intrahepatic cholestasis, Jaundice, Elevated ci...	OMIM:235555
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:94089
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathia, Dentin...	OMIM:619269
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Rickets, Iron deficiency anemia, Elevated circulating alkaline phosphatase concentr...	ORPHA:89937
Seckel Syndrome	Tooth agenesis, Abnormal dental enamel morphology, Micrognathia	ORPHA:808
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Hypocalcification of dental enamel	ORPHA:169090
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth	OMIM:259710
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Omphalocele, Hamartoma of tongue, Cleft lip, Hypoplastic facial b...	OMIM:616300
Orofaciodigital Syndrome I	Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Pancrea...	OMIM:311200
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Malar flattening, Bif...	OMIM:123790
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Hypoplasia of teeth	OMIM:234050
Trisomy 9P	Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth	ORPHA:236
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Rabson-Mendenhall Syndrome	Mandibular prognathia, Reduced subcutaneous adipose tissue, Dental crowding, Abnormality of the d...	ORPHA:769
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Arthrogryposis And Ectodermal Dysplasia	Abnormal dental enamel morphology, Cleft upper lip, Cleft palate, Orofacial cleft, Atypical scarr...	OMIM:601701
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia	OMIM:240300
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Hypophosphatemia	OMIM:619073
Lacrimoauriculodentodigital Syndrome 2	Carious teeth, Microdontia, Hypodontia, Conical tooth	OMIM:620192
Cole-Carpenter Syndrome 2	Microretrognathia, High palate, Dentinogenesis imperfecta	OMIM:616294
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Inguinal hernia, Grayish enamel, Carious teeth, Wide mouth, Widely spaced ...	OMIM:253010
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ...	OMIM:190350
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Elevated ...	OMIM:619484
Microcephalic Primordial Dwarfism, Montreal Type	Lipoatrophy, Micrognathia, Open bite, Carious teeth, Abnormal palate morphology, Shagreen patch	ORPHA:2617
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, De...	OMIM:234100
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary...	OMIM:257980
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth...	ORPHA:2108
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M...	ORPHA:1452
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, High palate	OMIM:300676
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density	ORPHA:970
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa...	ORPHA:263501
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Dorsocervical fat pad, Micrognathia, Hypoplasia of teeth, Downturned co...	ORPHA:391408
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum	OMIM:619142
Calvarial Doughnut Lesions With Bone Fragility	Carious teeth	OMIM:126550
Gnathodiaphyseal Dysplasia	Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis	ORPHA:53697
Chronic Mucocutaneous Candidiasis	Cheilitis, Abnormal lip morphology, Abnormal dental enamel morphology	ORPHA:1334
Celiac Disease, Susceptibility To, 1	Stomatitis, Enamel hypoplasia, Recurrent aphthous stomatitis	OMIM:212750
Blomstrand Lethal Chondrodysplasia	Natal tooth, Protruding tongue, Micrognathia, Long philtrum, Malar flattening	ORPHA:50945
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Low alkaline phosphatase, Increas...	OMIM:241500
Cleidocranial Dysplasia 1	Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup...	OMIM:119600
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati...	OMIM:616834
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Thin upper lip vermilion, Dental crowding, Low alkaline phosphatase	OMIM:618879
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Supernumerary tooth, High palate, Persistence of primary teeth	OMIM:619752
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi...	ORPHA:1071
Squalene Synthase Deficiency	Failure to thrive in infancy, Increased circulating farnesol concentration, Micrognathia, Elbow f...	OMIM:618156
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand	OMIM:608257
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Micrognathia, Cleft upper ...	OMIM:300373
W Syndrome	Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U...	ORPHA:2804
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Conical incisor, Thin v...	ORPHA:73223
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Delayed eruption of primary teeth, Micrognathia, Eruption fa...	OMIM:619322
Nance-Horan Syndrome	Mandibular prognathia, Supernumerary tooth, Abnormality of the dentition	ORPHA:627
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,...	OMIM:241530
Marshall Syndrome	Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin s...	OMIM:154780
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Thick upper lip vermilion, Medi...	OMIM:612651
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Camptodactyly of finger, Narrow mouth	ORPHA:1529
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Cellulit...	ORPHA:1310
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Abnormal circulating beta-C-terminal telopeptide concentration, Elevated alkaline pho...	OMIM:615923
Dislocation Of The Hip-Dysmorphism Syndrome	Prominence of the premaxilla, Inguinal hernia, Narrow mouth, Malar flattening, Abnormal palate mo...	ORPHA:2412
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Microdontia, Enamel hypoplasia, Retrognathia	OMIM:210720
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth, Premature loss of teeth, Oral leukoplakia	OMIM:616353
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta	OMIM:166200
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Jaundice, Hyperlipidemia, Elevated ...	OMIM:214900
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Foot joint contracture, Micrognathia, Dental malocclusion, Alveolar ridge overgr...	ORPHA:444072
Sanjad-Sakati Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Micrognathia, Thin vermilion bor...	ORPHA:2323
Eiken Syndrome	Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee...	OMIM:600002
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Micrognathia	ORPHA:73272
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mouth	ORPHA:950
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Low neutrophil al...	OMIM:245480
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Cleft ...	ORPHA:2780
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Anisopoikilocytosis,...	ORPHA:300298
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Reduced bone mineral density, An...	ORPHA:848
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Micrognathia	OMIM:613680
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	OMIM:619658
20P12.3 Microdeletion Syndrome	Hypoplasia of the maxilla, Narrow mouth, Malar flattening, Long philtrum	ORPHA:261295
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t...	OMIM:607812
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Cleft palate, Hypoplasia of the zygomatic bon...	ORPHA:1812
Congenital Disorder Of Glycosylation, Type Iim	Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v...	OMIM:300896
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Elevated alkaline phosphatase of bone origin, Osteolysis involving bon...	ORPHA:73
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Omphalocele, Micrognathia, Tooth malposition	ORPHA:2484
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Metatropic Dysplasia	Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon...	ORPHA:2635
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,...	ORPHA:439822
Oculodentodigital Dysplasia	Mandibular prognathia, Median cleft lip, Abnormal dental enamel morphology, Premature loss of pri...	ORPHA:2710
Developmental And Epileptic Encephalopathy 100	Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi...	OMIM:619777
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, L...	OMIM:127550
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Carious teeth	OMIM:612714
Porphyria, Congenital Erythropoietic	Atypical scarring of skin, Joint contracture of the hand, Erythrodontia, Corneal scarring	OMIM:263700
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Oral mucosal blisters, Atrophic scars, Smooth tongue, Enamel hypoplasia	ORPHA:79396
Osteogenesis Imperfecta, Type Xiii	Umbilical hernia, Thin vermilion border, Dentinogenesis imperfecta, Long philtrum	OMIM:614856
Camurati-Engelmann Disease, Type 2	Osteopenia, Hip contracture, Knee flexion contracture, Hyperostosis, Elevated circulating alkalin...	OMIM:606631
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, ...	ORPHA:1519
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231214
Schimke Immuno-Osseous Dysplasia	Microdontia, Abnormal primary molar morphology, Hypodontia	ORPHA:1830
Short Syndrome	Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Lipoatrophy, Micrognathia, Absence of ...	OMIM:269880
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Gingival overgrowth, Narrow palate, Conical incisor, Oligodontia, Umbi...	OMIM:235510
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Thick vermilion border, Everted lower lip vermilion, High palate, Shor...	OMIM:615866
Osteogenesis Imperfecta, Type Xvii	Dentinogenesis imperfecta	OMIM:616507
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Decreased body weight, Hyperbilirubinemia, Hepatic failure, Elevat...	OMIM:614886
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Diastema, Malar flattening, Dental malocclusion, Micrognathia	ORPHA:436245
Codas Syndrome	Delayed eruption of teeth, Enamel hypoplasia, Omphalocele	OMIM:600373
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Cleft palate, Gingivitis, Cellulitis	ORPHA:2314
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Deep philtrum, Thick lower lip vermilion, Thin vermilion border, Abnormal palate m...	ORPHA:2701
Lujan-Fryns Syndrome	Dental crowding, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Abnormality of...	ORPHA:776
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,...	OMIM:252100
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Cleft palate, Long philtrum	ORPHA:90653
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma...	OMIM:305100
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Cleft palate, Wide m...	ORPHA:85199
Castleman Disease	Myelofibrosis, Intestinal obstruction, Elevated circulating C-reactive protein concentration, Jau...	ORPHA:160
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Graft Versus Host Disease	Fasciitis, Limited elbow movement, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Stif...	ORPHA:39812
Cenani-Lenz Syndrome	Abnormal dental enamel morphology, High, narrow palate, Short philtrum, Hypodontia, Malar flattening	ORPHA:3258
Johanson-Blizzard Syndrome	Microdontia, Oligodontia, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:2315
3M Syndrome	Delayed eruption of teeth, Everted lower lip vermilion, Abnormal dental enamel morphology, Long p...	ORPHA:2616
Cranioectodermal Dysplasia 3	Everted lower lip vermilion, Widely spaced teeth, Hypoplasia of teeth, Micrognathia	OMIM:614099
Weismann-Netter Syndrome	Abnormal cortical bone morphology, Anemia	ORPHA:3344
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo...	ORPHA:1110
Lelis Syndrome	Mandibular prognathia, Carious teeth, Hypodontia, Furrowed tongue	ORPHA:140936
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Conical...	ORPHA:289
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta	OMIM:248190
Spondylocarpotarsal Synostosis Syndrome	Inguinal hernia, Renal cyst, Cleft palate, Failure of eruption of permanent teeth, Enamel hypoplasia	OMIM:272460
Abetalipoproteinemia	Osteopenia, Reticulocytosis, Elevated hepatic transaminase, Decreased HDL cholesterol concentrati...	ORPHA:14
Short-Rib Thoracic Dysplasia 12	Omphalocele, Natal tooth, Inguinal hernia, Median cleft lip, Hamartoma of tongue, Lobulated tongu...	OMIM:269860
Frontometaphyseal Dysplasia 1	Delayed eruption of teeth, Selective tooth agenesis, Interphalangeal joint contracture of finger,...	OMIM:305620
Distal Duplication 18Q	Abnormal dental morphology, Camptodactyly of finger, Micrognathia, Carious teeth, High palate	ORPHA:1716
Opitz Gbbb Syndrome	Omphalocele, Natal tooth, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Cleft l...	ORPHA:2745
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology	ORPHA:251004
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, High palate, Camptodactyly of finger	ORPHA:85279
Costello Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Thick lower lip vermilion, Narro...	ORPHA:3071
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal dental enamel morphology	ORPHA:1005
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Hydroxy...	OMIM:239000
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Abnormality of the ...	ORPHA:659
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno...	ORPHA:79106
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Cleft palate	OMIM:617925
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Elevated hepatic transaminase, Abnormal subcutaneous fat tissue distribution, Flexion...	OMIM:212065
Recon Progeroid Syndrome	Prominence of the premaxilla, Dental crowding, Delayed eruption of permanent teeth, Thin vermilio...	OMIM:620370
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Joint laxity, Small for gestational age, Elevated circulating aspartate aminotransferase concentr...	OMIM:617093
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Inguinal hernia, Micrognathia, Abnormality of the dentition, Elbow flexion...	OMIM:151050
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Elevated alkali...	OMIM:616828
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence...	ORPHA:364577
Hypophosphatemic Rickets, X-Linked Dominant	Enamel hypomineralization	OMIM:307800
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Dental crowdin...	OMIM:248370
Stickler Syndrome	Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Open...	ORPHA:828
Barber-Say Syndrome	Delayed eruption of teeth, Wide mouth	ORPHA:1231
Keipert Syndrome	Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow	ORPHA:2662
Atelis Syndrome 1	Carious teeth, High palate, Long philtrum	OMIM:620184
Crisponi/Cold-Induced Sweating Syndrome 1	Micrognathia, Carious teeth, Trismus, Elbow flexion contracture, High palate, Narrow mouth, Retro...	OMIM:272430
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Elevated circulating alkaline phosphatase concentration, Paget disease of bone, Elevated circulat...	OMIM:615422
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Inguinal hernia, Multiple joint contractures, Dental crowdi...	ORPHA:96170
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Contracture of the proximal interphalangeal joint of the 5th finger, Hypoplasia of the tooth germ...	ORPHA:293967
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Micrognathia, Knee flexion contracture, Long philtrum...	ORPHA:85201
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Elevated circulating alkaline phosphatase concentration, Increased total bilirubin	OMIM:174050
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palate...	OMIM:614701
Eec Syndrome	Abnormal dental enamel morphology, Carious teeth, Cleft palate, Orofacial cleft, Tooth agenesis, ...	ORPHA:1896
Grant Syndrome	Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification	ORPHA:2097
Adnp Syndrome	Thin upper lip vermilion, Inguinal hernia, Thick lower lip vermilion, Advanced eruption of teeth,...	ORPHA:404448
Glycosylphosphatidylinositol Biosynthesis Defect 11	Inguinal hernia, Tented upper lip vermilion, Macroglossia, Elevated circulating alkaline phosphat...	OMIM:616025
Jackson-Weiss Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology	ORPHA:1540
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Pericallosal lipoma, Median cleft lip, Hypoplasia of the maxilla, Hypop...	OMIM:136760
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypopl...	OMIM:603457
Chand Syndrome	Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla...	ORPHA:1401
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormality of th...	ORPHA:568
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Carious teeth, Glossoptosis, Micrognathia	ORPHA:93346
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hypouricemia, Elevated circulating aspartate aminotransferas...	OMIM:227810
Helsmoortel-Van Der Aa Syndrome	Thin upper lip vermilion, Carious teeth, High, narrow palate, Thick lower lip vermilion, Wide mou...	OMIM:615873
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy	Elevated circulating alkaline phosphatase concentration	OMIM:616917
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:79444
Emanuel Syndrome	Broad jaw, Inguinal hernia, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Con...	OMIM:609029
Fanconi-Bickel Syndrome	Osteopenia, Failure to thrive, Hypertriglyceridemia, Elevated circulating aspartate aminotransfer...	ORPHA:2088
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Diarrhea, Intermittent jau...	OMIM:601847
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Inguinal hernia, Hypoplasia of the maxilla, Everted lower lip vermilion, S...	OMIM:601499
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Everted lower lip vermilion, Long...	ORPHA:2067
Cholestasis, Progressive Familial Intrahepatic, 8	Elevated circulating aspartate aminotransferase concentration, Portal hypertension, Elevated circ...	OMIM:619662
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Congenital diaphragmatic hernia, Micrognathia	OMIM:166300
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Failure to thrive, Splenomegaly, Chronic diarrhea, Elevated circul...	OMIM:613489
Koolen-De Vries Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, High, narrow palate, Narrow pala...	ORPHA:96169
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Intestinal obstruction, Acute colitis, Leukocytosis, Diarrhea, Wei...	ORPHA:67
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Inguinal hernia, Thick lower lip vermilion, Flexion contracture, Macro...	OMIM:309900
Cranio-Osteoarthropathy	Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness	ORPHA:1525
Paget Disease Of Bone 3	Fractures of the long bones, Elevated circulating alkaline phosphatase concentration, Osteolysis,...	OMIM:167250
Pallister-Hall Syndrome	Natal tooth, Microglossia, Cleft palate, Cleft upper lip	OMIM:146510
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati...	OMIM:200990
Nail-Patella Syndrome	Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex...	ORPHA:2614
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Hypoplasia of the maxilla, Thick vermilion border, Long philtrum	ORPHA:228396
Smith-Lemli-Opitz Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, M...	ORPHA:818
Bile Acid Synthesis Defect, Congenital, 3	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, I...	OMIM:613812
Autosomal Recessive Kenny-Caffey Syndrome	Carious teeth, Calvarial osteosclerosis	ORPHA:93324
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short phi...	ORPHA:521445
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma...	ORPHA:96180
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Splenomegaly, Decreased beta-galactosidase activity, Sea-blue histiocytosis, Dys...	OMIM:230600
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth...	OMIM:615948
Alg12-Cdg	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hyponatremi...	ORPHA:79324
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Trichothiodystrophy	Multiple joint contractures, Hypoplasia of mandible relative to maxilla, Carious teeth, High, nar...	ORPHA:33364
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Lipodystrophy, Micrognathia, Hypoplasia of the ...	OMIM:209885
Axenfeld-Rieger Syndrome	Hypoplasia of the maxilla, Microdontia, Everted lower lip vermilion, Hypodontia	ORPHA:782
Treacher-Collins Syndrome	Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, H...	ORPHA:861
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Dental malocclusion, Renal cyst	OMIM:615560
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Congenital generalized lipodystrophy, Generalized lipodystrophy	OMIM:608154
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Reduced subcutaneous adipose tissue, Delayed eruption of ...	OMIM:216400
Cranioectodermal Dysplasia 1	Inguinal hernia, High, narrow palate, High palate, Widely spaced teeth, Everted lower lip vermili...	OMIM:218330
Flynn-Aird Syndrome	Carious teeth	ORPHA:2047
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Selective tooth agenesis, Abnormali...	ORPHA:2909
Familial Adenomatous Polyposis 1	Carious teeth, Supernumerary tooth, Eruption failure, Multiple lipomas, Odontoma, Keloids	OMIM:175100
Dyskeratosis Congenita	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Taurodontia, Periodontiti...	ORPHA:1775
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde...	OMIM:617412
8P Inverted Duplication/Deletion Syndrome	Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide mouth, Contractures of th...	ORPHA:96092
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Microdontia, Pulp calcification	OMIM:606895
Hepatoerythropoietic Porphyria	Scarring alopecia of scalp, Erythrodontia, Scarring	ORPHA:95159
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ...	ORPHA:2769
Tuberous Sclerosis 1	Dental enamel pits, Gingival fibromatosis, Renal cyst, Shagreen patch	OMIM:191100
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Narrow palate	OMIM:266270
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Analbuminemia	Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles...	OMIM:616000
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Dental crowding, Carious teeth, Supernumerary tooth, Talon cusp, Dental malocclusion...	ORPHA:353281
Monosomy 18P	Micrognathia, Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodonti...	ORPHA:1598
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Thin bony cortex, Pancytopenia, Elevated hepatic transaminase, Small fo...	OMIM:613658
Orofaciodigital Syndrome Xix	Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Tongue nodules, Downtur...	OMIM:620107
Albers-Schönberg Osteopetrosis	Carious teeth, Mandibular osteomyelitis, Abnormality of the dentition	ORPHA:53
Myeloproliferative Disease, Autosomal Recessive	Reduced leukocyte alkaline phosphatase, Myeloproliferative disorder	OMIM:254700
Branchioskeletogenital Syndrome	Mandibular prognathia, Unilateral cleft palate, Abnormality of the dentition, Hypoplasia of the m...	ORPHA:1299
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Micrognathia, Carious teeth, Downturned co...	OMIM:620186
Cystic Echinococcosis	Elevated hepatic transaminase, Eosinophilia, Jaundice, Bone cyst, Weight loss, Elevated circulati...	ORPHA:400
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Large for gestational age, Abnormal circulating fatty-acid concent...	ORPHA:263455
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Malar flattening, Retrognathia	OMIM:620157
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hypouricemia, Large for gestational age, Rickets, Elevated circula...	OMIM:616026
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Micrognathia, ...	OMIM:247200
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Malar flattening, Abnormal palate morphology	ORPHA:93262
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating creatine kinase concentration, Osteolysis, Increased susceptibility to fract...	ORPHA:52430
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Narrow palate, Cleft...	ORPHA:87
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sc...	OMIM:602080
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max...	OMIM:211380
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
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Elevated circulating alkaline phosphatase concentration, Osteoporosis	ORPHA:529665
Osteogenesis Imperfecta, Type X	Malar flattening, Inguinal hernia, Dentinogenesis imperfecta, Micrognathia	OMIM:613848
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Recurrent fractures, Limitation of joint mobility	ORPHA:1486
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Hypoplasia o...	OMIM:268400
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Osteogenesis Imperfecta, Type Viii	Inguinal hernia, Dentinogenesis imperfecta	OMIM:610915
Attrv30M Amyloidosis	Cardiomyopathy, Abnormal autonomic nervous system physiology, Cardiomegaly	ORPHA:85447
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Inguinal hernia, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teet...	ORPHA:2250
Paget Disease Of Bone 6	Elevated circulating alkaline phosphatase concentration, Osteoarthritis, Recurrent fractures	OMIM:616833
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A...	ORPHA:534
Acrofacial Dysostosis, Catania Type	Microretrognathia, Smooth philtrum, Inguinal hernia, Abnormality of the dentition, Carious teeth,...	ORPHA:1786
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening	OMIM:122880
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
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Abnormality of the dentition, Micrognathia, Eruption failure, High palate, Long ...	ORPHA:476126
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Thin upper lip vermilion, Carious teeth, High palate, Long philtrum, Smooth philtrum	OMIM:620191
X-Linked Hypophosphatemia	Odontodysplasia, Enthesitis, Cellulitis, Tooth abscess, Abnormal dentin morphology	ORPHA:89936
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth	OMIM:300952
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth, Flexion con...	ORPHA:79408
Cyanosis, Transient Neonatal	Reticulocytosis, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De...	OMIM:610829
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Dental malocclusion,...	OMIM:101800
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia, Dysphagia	ORPHA:261250
Ane Syndrome	Multiple joint contractures, Lipoatrophy, Carious teeth, Hypodontia, Premature loss of teeth	ORPHA:157954
Atelosteogenesis, Type Iii	Hypoplasia of the maxilla, Malar flattening, Cleft palate, Micrognathia	OMIM:108721
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Carious teeth, Thick vermilion border, Widely spaced teeth	OMIM:617102
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Kenny-Caffey Syndrome, Type 1	Carious teeth, Calvarial osteosclerosis	OMIM:244460
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,...	OMIM:114000
Gorlin Syndrome	Mandibular prognathia, Carious teeth	ORPHA:377
Multicentric Osteolysis, Nodulosis, And Arthropathy	Delayed eruption of teeth, Hip contracture, Interphalangeal joint contracture of finger, Ankle fl...	OMIM:259600
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, High palate, U...	ORPHA:3079
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Fibrodysplasia Ossificans Progressiva	Progressive cervical vertebral spine fusion, Ectopic ossification in tendon tissue, Ectopic ossif...	OMIM:135100
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Flexion contracture of finger, Lipoatrophy, Micrognathia, Hypoplasia o...	OMIM:601812
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena...	ORPHA:2363
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Enamel hypoplasia	ORPHA:79443
Pachydermoperiostosis	Gastrointestinal hemorrhage, Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporo...	ORPHA:2796
Meckel Syndrome, Type 1	Omphalocele, Thin upper lip vermilion, Natal tooth, Camptodactyly of finger, Cleft upper lip, Mic...	OMIM:249000
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Narrow mouth, Microdonti...	ORPHA:1307
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Limb joint contracture, Flexion contracture, Alveolar ridge overgrowth...	OMIM:301072
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Median cleft lip, Abnormal dental enamel morphology, Accessory oral...	ORPHA:2750
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
Fibrous Dysplasia Of Bone	Thin bony cortex, Cortical irregularity, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bo...	ORPHA:249
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Small for gestational age, Portal hypertension, Conjugated hyperbi...	ORPHA:567983
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Vacuolated lymphocytes, Vomiting, Hyponatremia, Hepatosplenomegaly, Eleva...	ORPHA:275761
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Lipomas of eyelids	OMIM:167730
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l...	ORPHA:369950
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar flattening	ORPHA:79113
Nager Syndrome	Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, Cleft palate, Wide mouth, Hypopla...	ORPHA:245
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Elevated alkaline phosphatase of bone origin, Scleros...	ORPHA:85188
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Narrow mouth, Umb...	ORPHA:77301
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa...	OMIM:300990
Restrictive Dermopathy 1	Natal tooth, Limb joint contracture, Micrognathia, Submucous cleft hard palate, Temporomandibular...	OMIM:275210
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Camptodac...	ORPHA:2136
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Otopalatodigital Syndrome, Type I	Omphalocele, Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted te...	OMIM:311300
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Small for gestational age, T...	OMIM:260400
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velopharyngeal insufficien...	ORPHA:363444
Hypophosphatemic Rickets, X-Linked Recessive	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300554
Johnson Neuroectodermal Syndrome	Carious teeth, Everted lower lip vermilion, Cleft palate	ORPHA:2316
Kindler Epidermolysis Bullosa	Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodactyly of finger, Cari...	ORPHA:2908
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Spondyloenchondrodysplasia	Delayed eruption of teeth, Dental malocclusion	ORPHA:1855
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Restrictive Dermopathy	Natal tooth, Multiple joint contractures, Camptodactyly of finger, Micrognathia, Submucous cleft ...	ORPHA:1662
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Hypercalcemia, Micrognathia, Knee flexion contracture, Elevated circ...	OMIM:156400
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Abnormality of the dentition	ORPHA:2036
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Malar flattening	OMIM:109120
Lead Poisoning	Delayed eruption of teeth	ORPHA:330015
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Gingival fibromatosis, Dow...	OMIM:135500
Osteogenesis Imperfecta	Delayed eruption of teeth, Abnormality of dental color, Inguinal hernia, Abnormal dental enamel m...	ORPHA:666
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Elevated alkaline phosphatas...	ORPHA:289176
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Panniculitis, Gingival overgrowth	ORPHA:508542
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario...	ORPHA:221008
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Deep philtrum, High palate, Open mouth, Retrognathia	ORPHA:1675
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Micrognathia, Carious teeth, Alveolar ridge overgrowth, Downturned corners of mouth, High palate	OMIM:620070
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious...	OMIM:149730
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario...	ORPHA:221016
Fanconi Renotubular Syndrome 1	Osteomalacia, Rickets, Hypokalemia, Elevated circulating alkaline phosphatase concentration, Hypo...	OMIM:134600
Dubowitz Syndrome	Delayed eruption of teeth, Inguinal hernia, Micrognathia, Carious teeth, Velopharyngeal insuffici...	OMIM:223370
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Camptod...	ORPHA:464
Cockayne Syndrome Type 3	Carious teeth, Enamel hypoplasia, Flexion contracture	ORPHA:90324
Cholestasis, Benign Recurrent Intrahepatic, 2	Elevated circulating alkaline phosphatase concentration, Intrahepatic cholestasis, Jaundice, Conj...	OMIM:605479
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Dental malocclusion, Elbow flexion contracture, K...	ORPHA:2920
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Focal Dermal Hypoplasia	Omphalocele, Inguinal hernia, Multicystic kidney dysplasia, Abnormal dental morphology, Abnormal ...	ORPHA:2092
De Barsy Syndrome	Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Narrow mouth, High palate, Small, coni...	ORPHA:2962
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Calvarial osteosclerosis, Persistence of primary teeth	ORPHA:93325
Lathosterolosis	Elevated hepatic transaminase, Increased mean platelet volume, Acanthocytosis, Intrahepatic chole...	OMIM:607330
Meier-Gorlin Syndrome 4	Hypoplasia of the maxilla, Narrow mouth, Thick lower lip vermilion, Micrognathia	OMIM:613804
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Talon cusp, Denta...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Talon cusp, Denta...	ORPHA:353277
Glycosylphosphatidylinositol Biosynthesis Defect 25	Low alkaline phosphatase, Ankle flexion contracture	OMIM:619985
Distal Duplication 5Q	Micrognathia, Carious teeth, Thin vermilion border, Hernia, Narrow mouth, Long philtrum	ORPHA:96097
Caroli Disease	Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Intrahepatic chol...	ORPHA:53035
Carpenter Syndrome 1	Omphalocele, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Agenesis of p...	OMIM:201000
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Micrognathia, Supernumerary tooth, Widely spaced teeth, Hypodontia, Microdontia	ORPHA:90024
Congenital Erythropoietic Porphyria	Scarring alopecia of scalp, Erythrodontia, Scarring, Increased connective tissue	ORPHA:79277
8Q22.1 Microdeletion Syndrome	Camptodactyly of finger, Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft...	ORPHA:178303
Robinow Syndrome, Autosomal Dominant 1	Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Short lingual frenulum, Den...	OMIM:180700
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Hypop...	OMIM:166250
Incontinentia Pigmenti	Delayed eruption of teeth, Scarring, Conical tooth, Oligodontia, Hypodontia	OMIM:308300
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Reduced subcutaneous adipose tissue, Lipoatrophy, Microgn...	OMIM:264090
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Erosion of oral mucosa, Abnormal oral mucosa morphology, Renal cyst...	ORPHA:79404
Gardner Syndrome	Abnormality of the dentition, Supernumerary tooth, Odontoma, Multiple unerupted teeth, Lipoma, Ke...	ORPHA:79665
Crouzon Syndrome	Hypoplasia of the maxilla, Narrow palate	ORPHA:207
Rubinstein-Taybi Syndrome 1	Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow ...	OMIM:180849
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Corneal scarring, Keloids, Enamel hypoplasia, Joint contracture of the hand	OMIM:309000
Isolated Biliary Atresia	Elevated hepatic transaminase, Small for gestational age, Conjugated hyperbilirubinemia, Jaundice...	ORPHA:30391
Chromosome 19Q13.11 Deletion Syndrome, Distal	Reduced subcutaneous adipose tissue, Inguinal hernia, Micrognathia, Carious teeth, Thin vermilion...	OMIM:613026
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Elevated alkaline phosphatase of bone origin, Osteomalacia, Increased circulating beta-C-terminal...	ORPHA:157215
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Joint hypermobility, Recurrent fractures, Umbilical hernia, Generalized osteoporosi...	OMIM:617952
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Leukocytosis, Diarrhea, Hepat...	OMIM:618278
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, High, ...	ORPHA:2658
Cockayne Syndrome	Reduced subcutaneous adipose tissue, Abnormal dental morphology, Delayed eruption of primary teet...	ORPHA:191
Amyotrophic Lateral Sclerosis 20	Elevated circulating alkaline phosphatase concentration	OMIM:615426
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Dental malocclusion, Cleft palate, Narrow palat...	OMIM:101200
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Congenital diaphragmatic he...	OMIM:122470
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Thick lower lip vermilion, Hi...	ORPHA:293939
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Micrognathia	ORPHA:2975
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Hypercholesterolemia, Thrombocytopenia, Splenomegal...	OMIM:210250
Cutis Laxa, Autosomal Recessive, Type Iia	Inguinal hernia, Lipodystrophy, Carious teeth, Narrow mouth, High palate, Long philtrum, Malar fl...	OMIM:219200
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Cleft palate...	OMIM:106260
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val...	ORPHA:85451
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology	ORPHA:79430
Al Amyloidosis	Gastrointestinal hemorrhage, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, ...	ORPHA:85443
Pfeiffer Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, High palate, Dental crowding	OMIM:101600
Robinow Syndrome	Dental crowding, Persistence of primary teeth, Micrognathia, Dental malocclusion, Gingival overgr...	ORPHA:97360
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Omphalocele, Micrognathia, Cleft palate, Too...	OMIM:309350
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Inguinal hernia, Carious teeth, Flexion contracture, Macroglossia, Umb...	OMIM:253200
Gorlin-Chaudhry-Moss Syndrome	Hypoplasia of the maxilla, Umbilical hernia, Oligodontia, Abnormality of the dentition	ORPHA:2095
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Anemia, Osteopetrosis, Hypocalcemic seizures	OMIM:612301
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin upper lip vermilion, Elevated circulating alkaline phosphatase concentration, Tented upper l...	OMIM:615716
Oncogenic Osteomalacia	Fibrous dysplasia of the bones, Increased susceptibility to fractures, Elevated circulating alkal...	ORPHA:352540
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Flexion contracture, High palate	OMIM:218000
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Cleft palate, Retrognathia, Aplastic zygomatic arch	OMIM:616462
Dent Disease 1	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	OMIM:300009
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Malar flattening, Supernumerary tooth, Thin vermilion border, Thick vermilion border	ORPHA:86818
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex	OMIM:619638
Erythrocytosis, Familial, 2	Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin	OMIM:263400
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Small for gestational age, Jaundice, Elevated circulating alkaline...	ORPHA:69665
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Narrow mouth, Micrognathia, Hypocholesterolemia	OMIM:618810
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Ctcf-Related Neurodevelopmental Disorder	Thin upper lip vermilion, Inguinal hernia, Abnormality of the dentition, Cleft palate, Thin vermi...	ORPHA:363611
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Inguinal hernia, Cleft lip, Thick lower lip vermilion, Cleft palate, W...	OMIM:280000
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi...	OMIM:105830
Dyskeratosis Congenita, Autosomal Recessive 1	Microdontia, Carious teeth, Oral leukoplakia	OMIM:224230
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Inguinal hernia, Elevated circulating aspartate aminotransferase c...	OMIM:619525
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Robinow Syndrome, Autosomal Recessive 1	Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Dental crowding, Micrognat...	OMIM:268310
Gapo Syndrome	Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, Long philtrum, Um...	OMIM:230740
Osteopetrosis, Autosomal Recessive 3	Dental malocclusion	OMIM:259730
Crouzon Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, High palate, Dental crowding	OMIM:123500
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Portal hypertension, Conjugated hyperbilirubinemia, Jau...	ORPHA:186
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Micrognathia, Diastema, Carious teeth, High palate, Narrow mouth, Failu...	OMIM:244450
Diffuse Cutaneous Systemic Sclerosis	Carious teeth, Flexion contracture	ORPHA:220393
Marshall Syndrome	Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, Thick lower lip vermilion,...	ORPHA:560
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Tented upper lip vermilion, Hypercalcemia, Craniosynostosis, Mi...	ORPHA:369837
Developmental And Epileptic Encephalopathy 80	Tented upper lip vermilion, Micrognathia, Protruding tongue, Wide mouth, Elevated circulating alk...	OMIM:618580
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Conjugated hyperbilirubinemia...	OMIM:617156
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp...	OMIM:127000
Kagami-Ogata Syndrome	Omphalocele, Inguinal hernia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Long ...	OMIM:608149
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:3044
Cowden Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Ovarian cyst, High palate, Narrow mouth...	OMIM:615108
Focal Dermal Hypoplasia	Delayed eruption of teeth, Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Cleft u...	OMIM:305600
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Long philtrum	OMIM:610682
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Deep philtrum...	OMIM:309520
Rubinstein-Taybi Syndrome	Abnormality of the dentition, Carious teeth, Micrognathia, Atypical scarring of skin, High palate...	ORPHA:783
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Van Maldergem Syndrome 1	Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ...	OMIM:601390
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Hyperparathyroidism, Transient Neonatal	Osteopenia, Inguinal hernia, Recurrent fractures, Subperiosteal bone formation, Elevated circulat...	OMIM:618188
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Robin Sequence With Cleft Mandible And Limb Anomalies	Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, C...	OMIM:268305
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth	OMIM:617799
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulating creatinine c...	OMIM:613095
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Poikiloderma With Neutropenia	Micrognathia, Carious teeth, Recurrent sinusitis, Long philtrum, Retrognathia	OMIM:604173
Peroxisome Biogenesis Disorder 5A (Zellweger)	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:614866
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f...	OMIM:618652
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Congenital diaphragmatic hernia, Carious teeth, Downturned corners of mouth, Thi...	OMIM:617602
Dubowitz Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Micrognathia, Submucous cleft hard palat...	ORPHA:235
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Camurati-Engelmann Disease	Mandibular prognathia, Reduced subcutaneous adipose tissue, Carious teeth	OMIM:131300
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup...	OMIM:614188
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Diarrhea, Low alkaline phosphatase, Decreased serum zinc, Failure to thrive	OMIM:201100
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, T...	ORPHA:238468
Distal Deletion 19P	Vaginal hernia, Hypoplasia of the maxilla, Cleft palate, Keloids, Short philtrum, Umbilical hernia	ORPHA:96129
Doors Syndrome	Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentition, Thick lower lip v...	ORPHA:79500
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Natal tooth, Thin upper lip vermilion, Lipoatrophy, Camptoda...	ORPHA:3455
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Thick lower lip vermilion, Wide mouth, Herni...	ORPHA:1465
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly	OMIM:614702
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Thick vermilion border, Lon...	OMIM:613805
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Micrognathia, Carious teeth, Atrophic scars, High palate, Long philt...	ORPHA:536467
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har...	OMIM:300166
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Hyponatremia, Increased circulating lactate dehydrogenase concentr...	ORPHA:94093
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla, Cleft palate	OMIM:614261
Cowden Syndrome 6	Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Ovarian cyst, High palate, Narrow mouth...	OMIM:615109
Prolidase Deficiency	Carious teeth, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:742
Cockayne Syndrome B	Mandibular prognathia, Reduced subcutaneous adipose tissue, Delayed eruption of primary teeth, Ca...	OMIM:133540
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Cle...	OMIM:239300
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Diastem...	OMIM:300534
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati...	ORPHA:90041
Xq12-Q13.3 Duplication Syndrome	Everted lower lip vermilion, Low alkaline phosphatase, Elevated circulating creatine kinase conce...	ORPHA:314389
Frontorhiny	Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinu...	ORPHA:391474
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Familial Adenomatous Polyposis	Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Lipoma, Abnormal c...	ORPHA:733
Trichohepatoneurodevelopmental Syndrome	Joint laxity, Decreased body weight, Dental crowding, Downturned corners of mouth, Macroglossia, ...	OMIM:618268
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Thin upper lip vermilion, Delayed eruption of teeth, Hip contracture, Dent...	OMIM:619503
Geroderma Osteodysplasticum	Mandibular prognathia, Hypoplasia of the maxilla, Periodontitis, Camptodactyly, Malar flattening	OMIM:231070
Camurati-Engelmann Disease	Delayed eruption of teeth, Abnormal subcutaneous fat tissue distribution, Craniofacial osteoscler...	ORPHA:1328
Pitt-Hopkins Syndrome	Hiatus hernia, Wide mouth, Thick vermilion border, Short philtrum, Failure of eruption of permane...	ORPHA:2896
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Inguinal hernia, Accessory oral frenulum, Cleft lip, Cleft palate...	ORPHA:672
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Gastrointestinal hemorrhage, Elevated circulating creatinine concentration, No...	ORPHA:247691
Faciocardiomelic Syndrome	Micrognathia, Dental malocclusion, Wide mouth, Long philtrum, Hyperplasia of the maxilla	OMIM:612731
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Inguinal hernia, Carious teeth, High palate, Long p...	OMIM:278250
Kindler Syndrome	Carious teeth, Periodontitis, Oral leukoplakia, Gingivitis	OMIM:173650
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Turnpenny-Fry Syndrome	Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Abnormality of the dentition, D...	OMIM:618371
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly	OMIM:600649
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Hemochromatosis, Type 1	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Azoosper...	OMIM:235200
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Vomiting, Abnormal circulating s...	ORPHA:470
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Flexion contracture, Thin vermilion border, High palate, Long philtrum...	ORPHA:481152
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta...	OMIM:182250
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly	ORPHA:858
Wrinkly Skin Syndrome	Delayed eruption of teeth, Inguinal hernia, Lipodystrophy, Carious teeth, High palate, Small, con...	ORPHA:2834
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Premature loss of primary teeth	ORPHA:667
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ...	OMIM:300280
Infantile Sialic Acid Storage Disease	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:269920
Van Maldergem Syndrome 2	Irregular dentition, Inguinal hernia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the...	OMIM:615546
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Wild Type Attr Amyloidosis	Bowel incontinence, Chronic diarrhea, Weight loss, Elevated circulating alkaline phosphatase conc...	ORPHA:330001
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Scarring, Abnormality of the dentition, Carious teeth, A...	ORPHA:158668
Hereditary Methemoglobinemia	Small for gestational age, Methemoglobinemia	ORPHA:621
Arboleda-Tham Syndrome	Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Cleft palate, Downturned corn...	OMIM:616268
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Decreased prealbumin level, Reduced circulating transferrin concentration...	ORPHA:90363
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Craniosynostosis, Port...	OMIM:620005
Bloom Syndrome	Malar flattening, Agenesis of maxillary lateral incisor	OMIM:210900
Dent Disease	Renal hypophosphatemia, Osteomalacia, Recurrent fractures, Elevated circulating creatine kinase c...	ORPHA:1652
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Multiple lipomas, Lipomas of eyelids	ORPHA:2399
Osteopetrosis With Renal Tubular Acidosis	Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Thick lower lip vermili...	ORPHA:2785
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Carious teeth, Oral ulcer, Gingivitis, Delayed eruption of permanent teeth, Periodontitis	ORPHA:79259
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Developmental And Epileptic Encephalopathy 95	Joint laxity, Inguinal hernia, Multiple joint contractures, Deep philtrum, Low alkaline phosphata...	OMIM:618143
Caroli Syndrome	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Intrahepatic cholestasis, Leuk...	ORPHA:480520
Aarskog-Scott Syndrome	Inguinal hernia, Cleft upper lip, Hypoplasia of the maxilla, Cleft palate, Curved linear dimple b...	OMIM:305400
Cohen Syndrome	Macrodontia, Aplasia/Hypoplasia of the tongue, Micrognathia, Hypoplasia of the maxilla, High, nar...	ORPHA:193
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Failure to thrive, Flexion contracture, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	ORPHA:31150
Proximal Renal Tubular Acidosis	Enamel hypomineralization	ORPHA:47159
Spondyloepimetaphyseal Dysplasia, Krakow Type	Elbow contracture, Knee flexion contracture, Sclerosis of skull base, Elevated circulating alkali...	OMIM:618162
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Inguinal hernia, Camptodactyly of finger, Hypoplasia of the maxilla, High,...	ORPHA:1101
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Inguinal hernia, Femoral hernia, Hypoplasia of ...	ORPHA:2588
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy	OMIM:212140
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Inguinal hernia, Micrognathia, Abnormality of the gingiva, Wide mouth,...	ORPHA:798
Shprintzen-Goldberg Craniosynostosis Syndrome	Inguinal hernia, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Narrow palate, Hig...	OMIM:182212
3Mc Syndrome 2	Prominence of the premaxilla, Cleft upper lip, Cleft palate, Downturned corners of mouth, High pa...	OMIM:265050
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Nablus Mask-Like Facial Syndrome	Thin upper lip vermilion, Abnormality of the dentition, Hypoplasia of the maxilla, Joint contract...	OMIM:608156
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Tetrasomy 9P	Median cleft lip and palate, Dental crowding, Abnormal dental enamel morphology, Micrognathia, Cl...	ORPHA:3310
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Delayed eruption of teeth, Camptodactyly of finger, Flexion contracture, High palate, Widely spac...	OMIM:143095
Peters-Plus Syndrome	Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, C...	OMIM:261540
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin, Prolonged ne...	ORPHA:423479
Cowden Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Ovarian cyst, High palate, Narrow mouth...	OMIM:158350
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
Estrogen Resistance Syndrome	Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Elevated tissue non-specific alkaline ...	ORPHA:785
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Micrognathia, Large for gestational age, Narrow mouth, Flexion contracture, Elbo...	OMIM:300868
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Flexion ...	ORPHA:3206
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,...	ORPHA:740
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici...	ORPHA:97214
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Elevated circulat...	ORPHA:100085
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
7Q31 Microdeletion Syndrome	Hypoplasia of the maxilla, Wide mouth, Long philtrum	ORPHA:251061
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Downturned corners of mouth, Ele...	ORPHA:247262
Neuraminidase Deficiency	Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:256550
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Cerebrofacioarticular Syndrome	Irregular dentition, Micrognathia, Hypoplasia of the maxilla, Narrow mouth, Camptodactyly	ORPHA:314679
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ...	ORPHA:324410
Martsolf Syndrome 1	Inguinal hernia, Micrognathia, Hypoplasia of the maxilla, High palate, Short philtrum, Long philt...	OMIM:212720
Coffin-Siris Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Congenital diaphragmatic he...	OMIM:135900
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Left unicoronal synostosis, Elevated circulating alkaline phosphatase concentration, Tented upper...	OMIM:614749
Microphthalmia With Linear Skin Defects Syndrome	Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Micrognathia, Mandibular apla...	ORPHA:2556
Cardiac-Urogenital Syndrome	Bifid scrotum, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hyposp...	OMIM:618280
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Primary Sclerosing Cholangitis	Osteopenia, Acute hepatic failure, Elevated hepatic transaminase, Abnormal eosinophil morphology,...	ORPHA:171
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Cerebrocostomandibular Syndrome	Cleft soft palate, Micrognathia, Carious teeth, Cleft lip, Pierre-Robin sequence, Elbow flexion c...	OMIM:117650
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Oligodontia, Short philtrum, Hypodontia, Mic...	OMIM:180500
Primary Hyperoxaluria	Abnormal dental pulp morphology, Rootless teeth, Abnormality of the dentition	ORPHA:416
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Goldberg-Shprintzen Syndrome	Hypoplasia of the maxilla, Oligodontia, Everted lower lip vermilion, Short philtrum, Thick vermil...	OMIM:609460
Smith-Lemli-Opitz Syndrome	Microretrognathia, Dental crowding, Micrognathia, Cleft palate, Epiphyseal stippling, Hypoalbumin...	OMIM:270400
Senior-Boichis Syndrome	Elevated hepatic transaminase, Portal hypertension, Hepatosplenomegaly, Elevated circulating alka...	ORPHA:84081
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
22Q11.2 Deletion Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Abnormality of the dentition, Micrognathia, C...	ORPHA:567
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Hypoplasia of the nasal bone, Hypoplasia of the ...	ORPHA:93357
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Charge Syndrome	Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Cleft palate, Hypopl...	ORPHA:138
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the...	OMIM:158330
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly	ORPHA:391428
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Mirizzi Syndrome	Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,...	ORPHA:521219
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Van Den Ende-Gupta Syndrome	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Elbow flexion cont...	OMIM:600920
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy	OMIM:616897
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Osteoporosis, Recurrent fractures, Thin bony cortex	OMIM:309583
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Pallister-Killian Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Omphalocele, Tented upper lip vermilion, Ing...	OMIM:601803
Reynolds Syndrome	Elevated hepatic transaminase, Calcinosis, Gastrointestinal hemorrhage, Splenomegaly, Jaundice, E...	OMIM:613471
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Submucous ...	ORPHA:2554
Weill-Marchesani Syndrome 1	Hypoplasia of the maxilla, Tooth malposition, Narrow palate	OMIM:277600
Spondyloocular Syndrome	Osteopenia, Thin bony cortex, Decreased body weight	OMIM:605822
Cornelia De Lange Syndrome	Delayed eruption of teeth, Congenital diaphragmatic hernia, Micrognathia, Cleft palate, Downturne...	ORPHA:199
Estrogen Resistance	Osteopenia, Elevated alkaline phosphatase of bone origin	OMIM:615363
Mogs-Cdg	Hepatomegaly, Absent brainstem auditory responses, External genital hypoplasia, Cardiomegaly, Opt...	ORPHA:79330
Gallbladder Disease 1	Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration	OMIM:600803
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Thin upper lip vermilion, Inguinal hernia, Micrognathia, Downturned corners of mouth, Elevated ci...	OMIM:618548
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Narrow palate, Cleft palate, Open bite	ORPHA:794
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Aplasia/Hy...	ORPHA:306542
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Weig...	ORPHA:99867
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomegaly	ORPHA:42
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Thin upper lip vermilion, Aplasia of the right hemidiaphragm, Micrognathia...	OMIM:619841
Genitopatellar Syndrome	Delayed eruption of teeth, Knee flexion contracture, Hip contracture, Micrognathia	OMIM:606170
Refsum Disease, Classic	Cardiomyopathy, Cardiomegaly	OMIM:266500
Shprintzen-Goldberg Syndrome	Inguinal hernia, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, High, narrow p...	ORPHA:2462
Boudin-Mortier Syndrome	Joint laxity, Malar flattening, Elevated alkaline phosphatase of bone origin	OMIM:619543
Mowat-Wilson Syndrome	Delayed eruption of teeth, Submucous cleft hard palate, Cleft palate, Widely spaced teeth, Tooth ...	OMIM:235730
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide mouth, Elevated circulating alkaline phosphatase concentration, Tented upper lip vermilion, ...	OMIM:614207
Meier-Gorlin Syndrome 3	Microretrognathia, Micrognathia, Hypoplasia of the maxilla, Thick vermilion border, Narrow mouth	OMIM:613803
Ablepharon Macrostomia Syndrome	Omphalocele, Camptodactyly of finger, Hypoplasia of the maxilla, Wide mouth, Thin vermilion borde...	ORPHA:920
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Cardiomegaly	OMIM:255120
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:617713
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Inguinal hernia, Camptodactyly of finger, Abnormal dental enamel morphology, Cheilitis	ORPHA:2273
Microphthalmia With Limb Anomalies	Macrodontia, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Micrognath...	ORPHA:1106
Floating-Harbor Syndrome	Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Renal cyst, Wide mouth, O...	ORPHA:2044
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:201475
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	ORPHA:99931
Aspartylglucosaminuria	Mandibular prognathia, Inguinal hernia, Abnormality of the dentition, Carious teeth, Gingival ove...	ORPHA:93
Acquired Methemoglobinemia	Methemoglobinemia, Vomiting	ORPHA:464453
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Inguinal hernia, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasia o...	OMIM:129900
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to auto...	OMIM:105210
Brachytelephalangic Chondrodysplasia Punctata	Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine	ORPHA:79345
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Hypoplasia of the maxilla, Ca...	OMIM:604292
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Testicul...	ORPHA:465508
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Abnormality of alkaline phosphatase level, Elevated circulating cr...	OMIM:137920
Frank-Ter Haar Syndrome	Osteopenia, Osteoporosis, Cortical irregularity, Camptodactyly	OMIM:249420
Aicardi Syndrome	Prominence of the premaxilla, Cleft upper lip, Hiatus hernia, Cleft palate, Multiple lipomas, Sho...	ORPHA:50
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Hig...	OMIM:614437
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Inguinal hernia, Elevated circulating aspartate aminotransferase concentration, Porta...	OMIM:619534
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Interface...	ORPHA:562639
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Optic atrophy, Cardiomegaly	OMIM:619259
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Meier-Gorlin Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Cleft palate, Thick vermilion borde...	OMIM:224690
Proteus Syndrome	Abnormal dental enamel morphology, Carious teeth, Enlarged polycystic ovaries, Abnormal subcutane...	ORPHA:744
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly	OMIM:268800
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Joint hypermobility	OMIM:617101
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Weill-Marchesani Syndrome 2	Joint stiffness, Elbow flexion contracture, Umbilical hernia, Flexion contracture of toe, Thin bo...	OMIM:608328
Marshall-Smith Syndrome	Microretrognathia, Eclabion, Prominence of the premaxilla, Irregular dentition, Omphalocele, Ging...	OMIM:602535
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e...	ORPHA:57777
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Inguinal hernia, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Gingival overgrowth, M...	OMIM:213980
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Reduced subcutaneous adipose tissue, Dental crowding, Hypoplasia of the ma...	OMIM:617402
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, Aplasia of the uterus	OMIM:146255
Leukemia, Chronic Myeloid	Reduced leukocyte alkaline phosphatase, Ph-positive acute lymphoblastic leukemia, Chronic myeloge...	OMIM:608232
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypertyrosinemia, Elevated circulating alkaline phosphatase concen...	OMIM:124000
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Brachial plexus neuropathy, Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Williams Syndrome	Inguinal hernia, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Ope...	ORPHA:904
Alström Syndrome	Elevated hepatic transaminase, Abnormality of dental color, Hypertriglyceridemia, Dorsocervical f...	ORPHA:64
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Cleft of chin, Cleft palate, Narrow palate, Malar flattening	OMIM:101400
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Cardiomegaly, Splenomega...	OMIM:602782
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Septate vagina, Uterus didelphys, Abnormal heart morphology, Aplasia of the uterus, Vaginal atresia	ORPHA:2237
Gallbladder Neuroendocrine Tumor	Weight loss, Intermittent jaundice, Elevated gamma-glutamyltransferase level, Elevated alkaline p...	ORPHA:100086
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:261537
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst...	ORPHA:90793
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Mowat-Wilson Syndrome	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:2152
Sotos Syndrome	Hip contracture, Inguinal hernia, Ankle flexion contracture, Abnormality of the dentition, No per...	ORPHA:821
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Aicardi Syndrome	Prominence of the premaxilla, Hiatus hernia, Cleft upper lip, Cleft palate, Lipoma	OMIM:304050
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Joint stiffness, Flexion contracture, Gastroesophageal reflux, Constipation,...	ORPHA:847
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cl...	ORPHA:261552
Fucosidosis	Hepatomegaly, Cardiomegaly	ORPHA:349
Myhre Syndrome	Mandibular prognathia, Thin upper lip vermilion, Hypoplasia of the maxilla, Cleft lip, Cleft pala...	OMIM:139210
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated alkaline phosphatase of bone origin, Elevated circulating cr...	ORPHA:411634
Thrombocytopenia-Absent Radius Syndrome	Abnormal cardiac septum morphology, Tetralogy of Fallot, Aplasia of the uterus	ORPHA:3320
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Bartsocas-Papas Syndrome 1	Omphalocele, Inguinal hernia, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Flexion c...	OMIM:263650
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr...	ORPHA:168558
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial...	ORPHA:96191
Zttk Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Submucous cleft hard palate, Flexion con...	OMIM:617140
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly	OMIM:608836
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr...	ORPHA:289548
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Thin bony cortex	OMIM:619727
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:308552
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:614921
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:608013
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula...	OMIM:245600
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Sickle Cell Disease	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:603903
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Gastroesophageal reflux, Const...	OMIM:301040
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Johanson-Blizzard Syndrome	Downturned corners of mouth, Hypoplasia of the primary teeth, Long philtrum, Agenesis of permanen...	OMIM:243800
Greenberg Dysplasia	Hypoplasia of the maxilla, Retrognathia, Micrognathia	OMIM:215140
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly	ORPHA:228308
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Polycystic ovaries	ORPHA:137675
Microphthalmia, Syndromic 1	Dental crowding, Cleft upper lip, High, narrow palate, Orofacial cleft, Agenesis of maxillary lat...	OMIM:309800
Stuve-Wiedemann Syndrome 1	Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee flexion contracture, Dysphagia...	OMIM:601559
Meckel Syndrome 14	Ambiguous genitalia, Aplasia of the uterus, Single ventricle	OMIM:619879
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla...	OMIM:130650
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Optic atrophy, Abnormal aortic valve morphology, Abnorm...	ORPHA:581
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Branchiooculofacial Syndrome	Cleft upper lip, Micrognathia, Abnormality of the dentition, Lower lip pit, Cleft of chin, Elbow ...	OMIM:113620
Spondyloepimetaphyseal Dysplasia, X-Linked	Joint laxity, Hypoplasia of the maxilla, Abnormality of alkaline phosphatase level, Delayed ossif...	OMIM:300106
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Omphalocele, Tented upper lip vermilion, Interphalangeal joint contracture...	ORPHA:96334
Fucosidosis	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:230000
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Splenopancreatic fusion, Sclerosis of skull base, Failure to thr...	OMIM:269150
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:232300
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Oeis Complex	Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb...	OMIM:258040
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen...	ORPHA:284339
Ogden Syndrome	Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum...	OMIM:300855
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney	OMIM:252500
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Bohring-Opitz Syndrome	Abnormal cardiac septum morphology, Optic atrophy, Cardiomegaly	ORPHA:97297
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert...	ORPHA:90794
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab...	ORPHA:322
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C...	ORPHA:3472
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Primrose Syndrome	Hip contracture, Hypoplasia of the maxilla, Thick lower lip vermilion, Flexion contracture, Knee ...	OMIM:259050
Thrombocytopenia-Absent Radius Syndrome	Ventricular septal defect, Hepatosplenomegaly, Aplasia of the uterus, Atrial septal defect, Atrio...	OMIM:274000
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Okamoto Syndrome	Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morphology, Primum...	ORPHA:2729
Glycogen Storage Disease Due To Acid Maltase Deficiency	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:365
Generalized Arterial Calcification Of Infancy	Elevated alkaline phosphatase of bone origin, Osteomalacia, Failure to thrive in infancy, Abnorma...	ORPHA:51608
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Thickened cortex of long bones	ORPHA:488434
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Cleft pal...	OMIM:164210
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus	ORPHA:457284
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Cleft palate, Downturned corners of mouth, Thin vermilion border, Shor...	ORPHA:500150
Aicardi-Goutières Syndrome	Hepatosplenomegaly, Hypertrophic cardiomyopathy, Micropenis, Cardiomegaly	ORPHA:51
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega...	ORPHA:75565
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus	OMIM:614527
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Gonadoblastoma, Hypertrophic cardiomyop...	ORPHA:116
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Hypospadias, Cardiomegaly, Sple...	OMIM:619991
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus	ORPHA:2879
Proteasome-Associated Autoinflammatory Syndrome 1	Splenomegaly, Hepatomegaly, Epididymitis, Cardiomegaly	OMIM:256040
Fanconi Anemia, Complementation Group L	Micropenis, Aplasia of the uterus	OMIM:614083
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus	ORPHA:1521
Hydrolethalus Syndrome 1	Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular canal defect, Abn...	OMIM:236680
17Q11 Microdeletion Syndrome	Osteopenia, Osteoporosis, Osteolysis, Leukemia, Thickened cortex of long bones	ORPHA:97685
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Bifid uterus, Crypt...	OMIM:107480
Neu-Laxova Syndrome 1	Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great arteries, Pat...	OMIM:256520
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Uterine rupture, Uterin...	OMIM:130050
Wolf-Hirschhorn Syndrome	Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus...	OMIM:194190
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Vascular Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Hypospadias, Cryptorchidism, Cystocele, Mitral valve prolapse, U...	ORPHA:286
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus	OMIM:276820
Norrie Disease	Cryptorchidism, Optic atrophy, Uterine rupture	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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