Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Grem2 MGI:1344367

Gene Summary

Name:

gremlin 2, DAN family BMP antagonist

Synonyms:

Prdc

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
dilated heart left ventricle	Grem2^em1(IMPC)Bay	HET	Early adult	3.01×10^-06
preweaning lethality, incomplete penetrance	Grem2^em1(IMPC)Bay	HOM	Early adult	0.00
increased cardiac stroke volume	Grem2^em1(IMPC)Bay	HET	Early adult	4.81×10^-10

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

MicroCT E18.5

Embryo reconstruction

9 Images

View images

Human diseases caused by Grem2 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 Grem2 (1 diseases)
Human diseases predicted to be associated with Grem2 (1099 diseases)

The table below shows human diseases associated to Grem2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Tooth Agenesis, Selective, 9		Selective tooth agenesis, Microdontia, Taurodontia	OMIM:617275

The table below shows human diseases predicted to be associated to Grem2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Dentin Dysplasia	Abnormal dental morphology, Abnormal dental enamel morphology, Increased bone mineral density	ORPHA:1653
Dentin Dysplasia, Type I	Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite...	OMIM:125400
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar	OMIM:114700
Amelogenesis Imperfecta, Type Ij	Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car...	OMIM:617297
Regional Odontodysplasia	Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de...	ORPHA:83450
Amelogenesis Imperfecta	Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati...	ORPHA:88661
Trichodentoosseous Syndrome	Increased bone mineral density, Widely spaced teeth, Microdontia, Taurodontia	OMIM:190320
Amelogenesis Imperfecta, Type Ia	Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia	OMIM:104530
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Dentinogenesis Imperfecta, Shields Type Iii	Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p...	OMIM:125500
Dentinogenesis Imperfecta	Fragile teeth, Grayish enamel, Joint hypermobility, Yellow-brown discoloration of the teeth, Sele...	ORPHA:49042
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Tooth Agenesis, Selective, 7	Agenesis of permanent teeth, Taurodontia	OMIM:616724
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization	OMIM:613211
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Amelogenesis imperfecta, Enamel hypoplasia, Enamel hypomineralization	OMIM:614832
Tooth Agenesis, Selective, 9	Selective tooth agenesis, Microdontia, Taurodontia	OMIM:617275
Ackerman Syndrome	Broad philtrum, Taurodontia	OMIM:200970
Amelogenesis Imperfecta, Type Iiib	Amelogenesis imperfecta, Enamel hypomineralization	OMIM:617607
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Pfeiffer-Palm-Teller Syndrome	Joint stiffness, Enamel hypoplasia	ORPHA:2871
Amelogenesis Imperfecta, Type Ik	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:620104
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Otodental Dysplasia	Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi...	OMIM:166750
Dental Ankylosis	Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis	ORPHA:1077
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Osteoporosis, Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth	ORPHA:71267
Anonychia-Microcephaly Syndrome	Carious teeth, Abnormality of the dentition	ORPHA:1094
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia	OMIM:104510
Amelogenesis Imperfecta, Type Ih	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:616221
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization	OMIM:617217
Amelogenesis Imperfecta, Type Ic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:204650
Tricho-Dento-Osseous Syndrome	Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Increased bone mineral densit...	ORPHA:3352
Epidermolysis Bullosa, Junctional 1A, Intermediate	Enamel hypoplasia, Carious teeth, Camptodactyly of finger, Hypodontia, Oral mucosal blisters	OMIM:226650
Shaheen Syndrome	Enamel hypoplasia, Carious teeth	OMIM:615328
Amelogenesis Imperfecta, Type If	Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color	OMIM:616270
Taurodontism	Taurodontia	OMIM:272700
Oligodontia	Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age...	ORPHA:99798
Dentinogenesis Imperfecta 1	Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta	OMIM:125490
Late-Onset Junctional Epidermolysis Bullosa	Enamel hypoplasia, Carious teeth, Oral mucosal blisters	ORPHA:79406
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Limitation of joint mobility, Abnormal cortical bone morphology, Dentinogene...	ORPHA:166277
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Junctional Epidermolysis Bullosa Inversa	Enamel hypoplasia, Carious teeth, Atrophic scars, Oral mucosal blisters	ORPHA:79405
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Limited pronati...	OMIM:610967
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth	ORPHA:3196
Florid Cemento-Osseous Dysplasia	Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm...	ORPHA:83451
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Cranial hyperostosis, Mandibular prognathia, Abnormal cortical bone m...	ORPHA:3416
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Dental enamel pits, Scarring alopecia of scalp	OMIM:619787
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth	OMIM:615887
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:204700
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Joint stiffness, Carious teeth, Increased bone dens...	OMIM:136300
Trichodental Dysplasia	Hypodontia, Odontodysplasia, Conical tooth	OMIM:601453
Osteogenesis Imperfecta, Type Xix	Osteopenia, Multiple prenatal fractures, Dentinogenesis imperfecta, Joint hypermobility, Recurren...	OMIM:301014
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis, Broad jaw	ORPHA:178377
Osteogenesis Imperfecta, Type Xxii	Reduced bone mineral density, Multiple prenatal fractures, Dentinogenesis imperfecta, Recurrent f...	OMIM:619795
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma...	ORPHA:477781
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Osteogenesis Imperfecta, Type Ix	Decreased calvarial ossification, Multiple prenatal fractures, Dentinogenesis imperfecta, Bowing ...	OMIM:259440
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:612529
Endosteal Hyperostosis, Worth Type	Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial hyperostosis, Mandibular pr...	ORPHA:2790
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Hypermobility of interphalang...	OMIM:613849
Endometriosis, Susceptibility To, 1	Dysmenorrhea, Decreased fertility, Endometriosis	OMIM:131200
Otodental Syndrome	Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d...	ORPHA:2791
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture	OMIM:203550
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Enamel hypoplasia, Retrognathia, High palate	OMIM:617915
Stimmler Syndrome	Abnormal dental enamel morphology, Microdontia	ORPHA:3199
Hall-Riggs Syndrome	Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Osteopo...	OMIM:234250
17Q11.2 Microduplication Syndrome	Abnormal dental enamel morphology, Thin vermilion border, Enamel hypoplasia, Malar flattening	ORPHA:139474
Intermediate Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Atrophic scars, Oral mucosal blisters, Scarring alopecia of scalp	ORPHA:79402
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Torus palatinus, M...	OMIM:144750
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level	OMIM:619009
Epidermolysis Bullosa, Junctional 1B, Severe	Enamel hypoplasia, Carious teeth, Atrophic scars	OMIM:226700
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Enamel hypoplasia, Carious teeth, Thick vermilion border	ORPHA:363523
Cole-Carpenter Syndrome 1	Osteopenia, Reduced bone mineral density, Microdontia, Coronal craniosynostosis, Micrognathia, De...	OMIM:112240
Intermediate Osteopetrosis	Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Abnormality of the ...	ORPHA:210110
Heimler Syndrome 1	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:234580
Cleft Palate, Isolated	Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate	OMIM:119540
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Osteoporosis, Delayed eruption of teeth	OMIM:612463
Kohlschutter-Tonz Syndrome	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:226750
Osteopetrosis, Autosomal Dominant 1	Mandibular pain, Osteopetrosis, Calvarial osteosclerosis, Torus palatinus, Thickened cortex of lo...	OMIM:607634
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Amelogenesis imperfecta, Inguinal hernia, Mandibular prognathia, High palate, Tooth agenesis, Car...	OMIM:618363
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-...	ORPHA:199306
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle	OMIM:619011
Ectodermal Dysplasia-Syndactyly Syndrome 2	Enamel hypoplasia, Thin upper lip vermilion	OMIM:613576
Trimethylaminuria	Anemia, Hypertension, Recurrent pneumonia, Splenomegaly, Tachycardia, Neutropenia	OMIM:602079
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea	ORPHA:397685
Localized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Abnormality of dental color, Atypical scarring of skin, Enamel hypopl...	ORPHA:251393
His Bundle Tachycardia	Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Gnathodiaphyseal Dysplasia	Osteopenia, Broad jaw, Thickened cortex of long bones, Mandibular osteomyelitis, Recurrent fractures	ORPHA:53697
Odontochondrodysplasia	Joint hypermobility, Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth	ORPHA:166272
Asherman Syndrome	Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc...	ORPHA:137686
Atkin-Flaitz Syndrome	Maxillary lateral incisor microdontia, Abnormality of the dentition, Thick vermilion border, Ever...	ORPHA:1193
Cranioectodermal Dysplasia	Joint hypermobility, Abnormal dental enamel morphology, Abnormality of the dentition, Everted low...	ORPHA:1515
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry...	OMIM:614840
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth	ORPHA:2027
48,Xyyy Syndrome	Thick lower lip vermilion, High palate, Enamel hypoplasia, Irregularly spaced teeth, Radioulnar s...	ORPHA:99329
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth	ORPHA:248
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced...	OMIM:604772
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age...	OMIM:313500
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Abnormality of the dentition, Osteoporosis	OMIM:615269
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Delayed eruption of teeth, Mandibular prog...	OMIM:265900
Premature Ovarian Failure 2B	Delayed puberty, Premature ovarian insufficiency, Abnormality of the dentition, Female infertilit...	OMIM:300604
Sclerosteosis	Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis	ORPHA:3152
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, Malar flatten...	ORPHA:2972
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Enamel hypoplasia, Carious teeth, Increased connective tissue, Scarring alopecia of scalp	OMIM:226670
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Heimler Syndrome 2	Amelogenesis imperfecta, Dental crowding	OMIM:616617
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath...	ORPHA:2325
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Cleft palate, Abnormal mandible morphology, Natal tooth, Arthrogryposis multiplex congenita	OMIM:217150
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Intellectual Disability And Myopathy Syndrome	Limited elbow extension, Incisor macrodontia, Achilles tendon contracture, Dental malocclusion, T...	OMIM:619719
Osteogenesis Imperfecta, Type Vi	Joint hypermobility, Recurrent fractures, Dentinogenesis imperfecta, Increased susceptibility to ...	OMIM:613982
Hyperprolactinemia	Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility	OMIM:615555
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Dentinogenesis imperfecta, Bowing of limbs due to multiple fracture...	OMIM:166220
Intellectual Disability, Birk-Barel Type	High, narrow palate, Limited elbow flexion/extension, Short philtrum, Foot joint contracture, Inc...	ORPHA:166108
Ramon Syndrome	Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morpholog...	ORPHA:3019
Jalili Syndrome	Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color	ORPHA:1873
Osteogenesis Imperfecta, Type Iii	Multiple prenatal fractures, Decreased calvarial ossification, Micrognathia, Dentinogenesis imper...	OMIM:259420
Hypophosphatasia, Adult	Rickets, Osteomalacia, Carious teeth, Premature loss of primary teeth, Pathologic fracture, Prema...	OMIM:146300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d...	OMIM:610476
Clark-Baraitser syndrome	Thick lower lip vermilion, Prominent median palatal raphe, Exaggerated median tongue furrow, Maxi...	OMIM:300602
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Downturned corners of mouth	ORPHA:2643
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor	OMIM:620062
Osteogenesis Imperfecta, Type Xi	Osteopenia, Dentinogenesis imperfecta, Joint hypermobility, Recurrent fractures, Increased suscep...	OMIM:610968
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Cardiomyopathy, Dilated, 2F	Congestive heart failure, Increased left ventricular end-diastolic volume, Increased circulating ...	OMIM:619747
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Gonadal dysgenesis, Primary amenorrhea, Hypergonadotropic hypogonadism	OMIM:607080
Hypertrichosis Lanuginosa Congenita	Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:2222
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Conical incisor, Carious teeth, Enamel hypoplasia	OMIM:614564
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Diaphyseal sclerosis, Mandibular prognathia, Cortical sclerosis, Crani...	OMIM:122860
Ectodermal Dysplasia/Short Stature Syndrome	Hypodontia, Enamel hypoplasia, Delayed eruption of teeth	OMIM:616029
Amelo-Onycho-Hypohidrotic Syndrome	Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A...	ORPHA:1028
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis, Micrognathia, Macroglossia	ORPHA:1423
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr...	ORPHA:45453
Liang-Wang Syndrome	Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Macrog...	OMIM:618729
Filippi Syndrome	Thin vermilion border, Short philtrum, Serrated incisors, Microdontia, Abnormal dental morphology...	OMIM:272440
Osteogenesis Imperfecta, Type Xiii	Thin vermilion border, Reduced bone mineral density, Limitation of knee mobility, Increased bone ...	OMIM:614856
Pycnodysostosis	Narrow palate, Absent frontal sinuses, Increased bone mineral density, Osteolytic defects of the ...	OMIM:265800
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormal dental enamel morphology, Yellow-brown discoloration of the tee...	ORPHA:1946
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Dysosteosclerosis	Craniofacial hyperostosis, Delayed eruption of teeth, Increased bone mineral density, Abnormal de...	ORPHA:1782
Cardiomyopathy, Dilated, 2I	Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ...	OMIM:620462
Cole-Carpenter Syndrome 2	Osteopenia, Lambdoidal craniosynostosis, High palate, Coronal craniosynostosis, Dentinogenesis im...	OMIM:616294
Isolated Osteopoikilosis	Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar...	ORPHA:166119
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Cenani-Lenz Syndactyly Syndrome	Metacarpal synostosis, Enamel hypoplasia, Micrognathia, Malar flattening, Radioulnar synostosis, ...	OMIM:212780
Tooth Agenesis, Selective, 3	Agenesis of permanent molar, Oligodontia, Oligodontia of primary teeth, Microdontia	OMIM:604625
Rubinstein-Taybi Syndrome 2	Narrow palate, Retrognathia, Increased overbite, High palate, Talon cusp, Carious teeth, Microgna...	OMIM:613684
Osteopetrosis, Autosomal Dominant 2	Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ...	OMIM:166600
Premature Ovarian Failure 1	Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation	OMIM:311360
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Naegeli-Franceschetti-Jadassohn Syndrome	Premature loss of teeth, Carious teeth	OMIM:161000
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop...	ORPHA:3286
Cardiomyopathy, Dilated, 1Ii	Elevated circulating creatine kinase concentration, Ventricular tachycardia, Increased left ventr...	OMIM:615184
Buschke-Ollendorff Syndrome	Joint stiffness, Osteopoikilosis, Connective tissue nevi, Flexion contracture	OMIM:166700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Premature Ovarian Failure 18	Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second...	OMIM:619203
Osteogenesis Imperfecta, Type I	Osteopenia, Dentinogenesis imperfecta, Joint hypermobility, Finger joint hypermobility, Recurrent...	OMIM:166200
Ovarian Dysgenesis 9	Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci...	OMIM:619665
Premature Ovarian Failure 15	Decreased cirrculating antimullerian hormone circulation, Secondary amenorrhea, Oligomenorrhea, E...	OMIM:618096
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Dental Anomalies And Short Stature	Amelogenesis imperfecta, Widely spaced teeth, Mandibular prognathia, Oligodontia, Microdontia, Hy...	OMIM:601216
Mulibrey Nanism	Thickened cortex of long bones, Absent frontal sinuses, Dental crowding, Hypoplastic frontal sinu...	OMIM:253250
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Brittle Cornea Syndrome 1	Joint hypermobility, Atypical scarring of skin, Dentinogenesis imperfecta	OMIM:229200
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Metaphyseal Chondrodysplasia, Spahr Type	Carious teeth, Reduced bone mineral density, Abnormality of the dentition	ORPHA:2501
Gordon Holmes Syndrome	Secondary amenorrhea, Oligomenorrhea, Absence of pubertal development, Primary amenorrhea, Hypogo...	OMIM:212840
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypoplasia of teeth, Carious teeth, Hypophosphatemic rickets	OMIM:613312
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Anonychia With Flexural Pigmentation	Carious teeth	ORPHA:69125
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Supernumerary tooth, Limitation of joint mobility, Carious teeth, Micrognathia, Hypoplasia of the...	ORPHA:3145
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth	OMIM:183300
Congenital Disorder Of Glycosylation, Type Iik	Amelogenesis imperfecta, Joint hypermobility, Malar flattening, Osteoporosis	OMIM:614727
Odontochondrodysplasia 1	Delayed eruption of teeth, Delayed ossification of carpal bones, Osteoporosis, Dentinogenesis imp...	OMIM:184260
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Talon cusp, Microdontia, Cleft palate, Radioulnar synostosis, Diastema, Deep p...	OMIM:605282
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Failure Of Tooth Eruption, Primary	Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth	OMIM:125350
Steatocystoma Multiplex	Natal tooth	OMIM:184500
Intellectual Developmental Disorder, Autosomal Dominant 21	Thin vermilion border, Incisor macrodontia, Narrow mouth, Cleft palate, Long philtrum	OMIM:615502
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re...	OMIM:619897
46,Xy Sex Reversal 11	Decreased cirrculating antimullerian hormone circulation, Gonadal dysgenesis with female appearan...	OMIM:273250
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular...	OMIM:614916
Ovarian Dysgenesis 7	Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu...	OMIM:618117
Seckel Syndrome 5	Retrognathia, Oligodontia, Selective tooth agenesis, High palate, Enamel hypoplasia, Micrognathia...	OMIM:613823
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Microdontia, Micrognathia	OMIM:610706
Ectodermal Dysplasia-Syndactyly Syndrome 1	Enamel hypoplasia, Widely spaced teeth, Conical tooth	OMIM:613573
Gigantiform Cementoma, Familial	Multiple impacted teeth, Cementoma, Tooth malposition	OMIM:137575
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Premature Ovarian Failure 22	Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second...	OMIM:620548
Ovarian Dysgenesis 10	Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f...	OMIM:619834
Ovarian Dysgenesis 1	Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea	OMIM:233300
Perrault Syndrome 6	Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas...	OMIM:617565
Osteogenesis Imperfecta, Type Xvii	Reduced bone mineral density, Osteoporosis, Dentinogenesis imperfecta, Joint hypermobility, Recur...	OMIM:616507
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, Oligomenorrhea, Polycy...	ORPHA:280356
Acute Peripheral Arterial Occlusion	Absent ankle pulse, Supraventricular tachycardia, Abnormal capillary physiology, Leukocytosis, Ab...	ORPHA:90064
X-Linked Hypophosphatemia	Rickets, Reduced bone mineral density, Vertebral hyperostosis, Craniosynostosis, Arthritis, Abnor...	ORPHA:89936
Invasive Mole	Menometrorrhagia	ORPHA:99925
Snijders Blok-Campeau Syndrome	Widely spaced teeth, Inguinal hernia, High palate, Enamel hypoplasia, Umbilical hernia, Joint hyp...	OMIM:618205
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic diameter, Hypertrophic cardi...	OMIM:612124
Nance-Horan Syndrome	Screwdriver-shaped incisors, Supernumerary maxillary incisor, Diastema, Mulberry molar	OMIM:302350
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Enamel hypoplasia, Carious teeth, Scarring alopecia of scalp	OMIM:612843
Lowry-Maclean Syndrome	Craniosynostosis, Cleft palate, Delayed eruption of teeth	OMIM:600252
Ovarian Dysgenesis 2	Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon...	OMIM:300510
Ovarian Fibrothecoma	Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ...	ORPHA:314478
Craniosynostosis 3	Right unicoronal synostosis, Bicoronal synostosis, Left unicoronal synostosis, Dental malocclusio...	OMIM:615314
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Supernumerary tooth, Agenesis of molar, Bicoronal synostosis, Microdontia, Osteoporos...	OMIM:619718
Polycystic Ovary Syndrome 1	Oligomenorrhea, Amenorrhea, Enlarged polycystic ovaries	OMIM:184700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hypodontia, Joint hypermobility, Hip osteoarthritis, Delayed eruption of teeth	ORPHA:63442
Osteopetrosis, Autosomal Recessive 2	Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Recurrent fractures, Mandibular progna...	OMIM:259710
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ...	OMIM:615616
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Subperiosteal bone formation, Hyperostosis, Enamel hypoplasia, Pulp calcification, Taurodontia	OMIM:211900
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Retrognathia, Periodontitis, Premature loss of teeth, Dentinogenesis imperfecta, Dela...	OMIM:619269
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Decreased testicular size, Recurrent pneumonia, Hypogonadism, Primary ame...	OMIM:614962
Pseudohypoparathyroidism Type 1B	Diaphyseal sclerosis, Increased bone mineral density, Delayed eruption of teeth, Enamel hypoplasi...	ORPHA:94089
Gestational Choriocarcinoma	Metrorrhagia	ORPHA:99926
Premature Ovarian Failure 5	Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo...	OMIM:611548
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function	OMIM:609909
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Cam...	ORPHA:88630
Premature Ovarian Failure 13	Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen...	OMIM:617442
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Qazi-Markouizos Syndrome	High, narrow palate, Delayed ossification of carpal bones, Hypoplasia of teeth, Open mouth, Broad...	ORPHA:3010
Albers-Schönberg Osteopetrosis	Arthritis, Recurrent fractures, Abnormality of the dentition, Carious teeth, Osteoarthritis, Gene...	ORPHA:53
Naegeli-Franceschetti-Jadassohn Syndrome	Supernumerary tooth, Yellow-brown discoloration of the teeth, Premature loss of teeth, Abnormalit...	ORPHA:69087
Premature Ovarian Failure 8	Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm...	OMIM:615723
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization	ORPHA:494444
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Ventricular Fibrillation, Paroxysmal Familial, 1	Syncope, Ventricular fibrillation, Tachycardia	OMIM:603829
48,Xxyy Syndrome	Thick lower lip vermilion, Broad jaw, Delayed eruption of teeth, Inguinal hernia, Abnormal dental...	ORPHA:10
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Osteopenia, Abnormality of the dentition	OMIM:615266
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Amelogenesis imperfecta, Enamel hypoplasia	OMIM:245660
Temtamy Preaxial Brachydactyly Syndrome	Synostosis of carpals/tarsals, Abnormality of canine, Tarsal synostosis, Tooth malposition, Proxi...	ORPHA:363417
Orofaciodigital Syndrome Type 5	Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Cleft soft pala...	ORPHA:2919
Ovarian Dysgenesis 6	Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ...	OMIM:618078
Premature Ovarian Failure 7	Gonadal dysgenesis, Premature ovarian insufficiency, Clitoral hypertrophy, Secondary amenorrhea, ...	OMIM:612964
Pycnodysostosis	Joint hypermobility, Generalized osteosclerosis, Obtuse angle of mandible, Increased bone mineral...	ORPHA:763
Atrial Fibrillation, Familial, 15	Atrial fibrillation, Atrial flutter, Sudden cardiac death, Supraventricular tachycardia	OMIM:615770
Braddock-Carey Syndrome 1	Everted lower lip vermilion, Camptodactyly, Enamel hypoplasia, Pierre-Robin sequence, Cleft palat...	OMIM:619980
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Enamel hypoplasia, Atrophic scars, Arthrogryposis multiplex congenita, Oral mucosal blisters	OMIM:226730
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormal palate morphology, Carious teeth, Abnormality of the dentition, Radioulnar synostosis	ORPHA:3270
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Micrognathia, Deep philtrum	ORPHA:1237
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Chondrodysplasia, Blomstrand Type	Micrognathia, Advanced tarsal ossification, Malar flattening, Generalized osteosclerosis, Advance...	OMIM:215045
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Oligodontia, Limitation of joint mobility, Synostosis of carpal b...	ORPHA:90650
Brugada Syndrome 1	Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria...	OMIM:601144
Long Qt Syndrome 3	Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop...	OMIM:603830
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Delayed puberty, Azoospermia, Secondary amenorrhea, Decreased circulating luteinizing hormone lev...	OMIM:228300
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Infertility, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad...	OMIM:146110
Premature Ovarian Failure 21	Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho...	OMIM:620311
Premature Ovarian Failure 9	Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati...	OMIM:615724
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Ovarian Dysgenesis 5	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:617690
Osteogenesis Imperfecta, Type Viii	Osteopenia, Inguinal hernia, Decreased skull ossification, Type 1 collagen overmodification, Mult...	OMIM:610915
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Partial vaginal septum, Dyspareunia, Uterus didelphys, Hydrocolpos, Dysmenorrhea, Abnormal uterin...	ORPHA:3411
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre...	OMIM:614841
Pseudohermaphroditism, Female, With Skeletal Anomalies	Clitoral hypertrophy, Hypoplasia of the maxilla, Primary amenorrhea, Ambiguous genitalia, Short m...	OMIM:264270
Pituicytoma	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo...	ORPHA:251623
Hypothyroidism, Congenital, Nongoitrous, 8	Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone level, Central hypothyro...	OMIM:301033
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Pseudohypoparathyroidism, Type Ia	Enamel hypoplasia, Subcutaneous ossification, Osteoporosis, Delayed eruption of teeth	OMIM:103580
Premature Ovarian Failure 6	Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ...	OMIM:612310
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Exaggerated cupid's bow, H...	ORPHA:2025
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Thick vermilion border, Macrodontia of permanent maxillary central incisor, Open mouth	OMIM:620114
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
46,Xy Sex Reversal 1	Gonadal dysgenesis, Abnormal female external genitalia morphology, Absence of secondary sex chara...	OMIM:400044
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Amelogenesis imperfecta, Hypodontia, Delayed eruption of teeth	OMIM:615905
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
Perrault Syndrome 4	Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus...	OMIM:615300
Xp22.3 Microdeletion Syndrome	Secondary amenorrhea, Polycystic ovaries, Decreased fertility, Hypogonadotropic hypogonadism	ORPHA:1643
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri...	OMIM:608758
Ovarian Dysgenesis 4	Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno...	OMIM:616185
Cockayne Syndrome Type 2	Scarring, Hypoplasia of the primary teeth, Mandibular prognathia, Enamel hypoplasia, Flexion cont...	ORPHA:90322
Dysostosis, Stanescu Type	Abnormal palate morphology, Increased bone mineral density, Abnormal dental enamel morphology, Ab...	ORPHA:1798
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Ulcerative colitis, Anemia, Elevated circulating C-reactive protein concentration	OMIM:619398
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Permanent a...	OMIM:614022
Self-Improving Dystrophic Epidermolysis Bullosa	Carious teeth, Atrophic scars, Oral mucosal blisters	ORPHA:79411
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Trichothiodystrophy 9, Nonphotosensitive	Joint hypermobility, High, narrow palate, Dental malocclusion	OMIM:619692
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypoplasia of the ovary, Decreased serum testosterone concentration, Primary amenorrhea, Decrease...	OMIM:618841
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Vitamin D-Dependent Rickets, Type 2A	Rickets, Delayed eruption of teeth, Delayed epiphyseal ossification, Enamel hypoplasia, Carious t...	OMIM:277440
Placental Site Trophoblastic Tumor	Metrorrhagia, Amenorrhea	ORPHA:99928
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Bicoronal synostosis, Dental crowding, Oligodontia, Tracheobronchomalacia, Joint stiffness, Ename...	OMIM:619184
Tularemia	Pneumonia, Anemia, Increased circulating antibody level, Inflammatory abnormality of the eye, Ery...	ORPHA:3392
Pseudohypoparathyroidism, Type Ic	Enamel hypoplasia, Osteoporosis, Delayed eruption of teeth	OMIM:612462
Lacrimoauriculodentodigital Syndrome 3	Enamel hypoplasia, Carious teeth, Widely spaced teeth	OMIM:620193
Hypodontia-Dysplasia Of Nails Syndrome	Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti...	ORPHA:2228
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric...	OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Premature Ovarian Failure 3	Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus	OMIM:608996
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Bdv Syndrome	Delayed puberty, Decreased thyroid-stimulating hormone level, Hyperinsulinemia, Reduced TSH respo...	OMIM:619326
Melorheostosis With Osteopoikilosis	Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis	ORPHA:1879
Cortisone Reductase Deficiency 1	Precocious puberty, Oligomenorrhea, Infertility, Acne	OMIM:604931
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Scarring alopecia of scalp, Oligodontia, Microdontia, Persistence of primary teeth...	OMIM:618727
Perrault Syndrome 5	Gonadal dysgenesis, Primary amenorrhea, High palate, Hypergonadotropic hypogonadism	OMIM:616138
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Eem Syndrome	Widely spaced teeth, Selective tooth agenesis, Microdontia, Abnormal dental morphology, Carious t...	ORPHA:1897
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at...	ORPHA:52901
Perrault Syndrome 2	Amenorrhea, Streak ovary	OMIM:614926
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hypodontia, Abnormal dental enamel morphology, Oligodontia, Scarring alopecia of scalp	ORPHA:59303
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Oculoskeletodental Syndrome	Retrognathia, Oligodontia, Abnormality of the dentition, Microdontia, Enamel hypoplasia	ORPHA:557003
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:255100
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Premature Ovarian Failure 10	Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ...	OMIM:612885
Prolactin Deficiency, Isolated	Infertility, Reduced circulating prolactin concentration, Irregular menstruation	OMIM:264110
Atrial Standstill 1	Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d...	OMIM:108770
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Increased bone mineral density, Carious ...	OMIM:259700
Hypophosphatasia, Childhood	Carious teeth, Premature loss of primary teeth, Craniosynostosis	OMIM:241510
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:616030
Osteogenesis Imperfecta, Type X	Osteopenia, Inguinal hernia, Decreased calvarial ossification, Micrognathia, Dentinogenesis imper...	OMIM:613848
Van Der Woude Syndrome 2	Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit	OMIM:606713
Short Stature, Dauber-Argente Type	Osteopenia, Reduced bone mineral density, Delayed eruption of teeth	OMIM:619489
Lowry-Maclean Syndrome	Congenital diaphragmatic hernia, Retrognathia, High, narrow palate, Osteopenia, Inguinal hernia, ...	ORPHA:2409
Cranioectodermal Dysplasia 4	Thin vermilion border, Smooth philtrum, Joint hypermobility, Sagittal craniosynostosis, Taurodontia	OMIM:614378
Camurati-Engelmann Disease	Diaphyseal sclerosis, Increased bone mineral density, Mandibular prognathia, Cortical thickening ...	OMIM:131300
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, High palate, Micrognathia, ...	ORPHA:85184
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Carious teeth, Recurrent fractures, Osteoporosis	OMIM:126550
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Hypoplasia of the uterus, Stre...	ORPHA:168563
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Premature Ovarian Failure 11	Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level	OMIM:616946
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Abnormality of the ovary, Hypogonadism	ORPHA:1875
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism	ORPHA:393
Sjögren-Larsson Syndrome	Joint stiffness, Abnormal dental enamel morphology	ORPHA:816
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Delayed epiphyseal ossification, Delayed eruption of teeth, Enamel hypoplasia, Sparse bo...	OMIM:264700
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Odontomicronychial Dysplasia	Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit...	ORPHA:1811
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra...	ORPHA:45452
Dermatitis Herpetiformis	Dental enamel pits, Erosion of oral mucosa, Recurrent fractures, Delayed eruption of teeth	ORPHA:1656
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Delayed eruption of teeth	ORPHA:2238
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Acne, Amenorrhea, Polycystic ovaries	ORPHA:2795
Müllerian Aplasia And Hyperandrogenism	Increased serum testosterone level, Short philtrum, Abnormal vagina morphology, Abnormality of th...	ORPHA:247768
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Atrophic scars, Narrow mouth, Corneal scarring, Enamel hypoplasia, Flexion contracture, Oral muco...	OMIM:226600
Maxillonasal Dysplasia, Binder Type	Dental malocclusion	OMIM:155050
Immunodeficiency 33	Hypodontia, Delayed eruption of teeth, Conical tooth	OMIM:300636
Scarf Syndrome	Inguinal hernia, Craniosynostosis, Enamel hypoplasia, Umbilical hernia, Long philtrum, Joint hype...	ORPHA:3134
Developmental And Epileptic Encephalopathy 66	Widely spaced teeth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Macrod...	OMIM:618067
Idiopathic/Heritable Pulmonary Arterial Hypertension	Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmonary arterial h...	ORPHA:422
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating cytokine concentration, Heart block, Increased circulating interleukin 6 con...	ORPHA:542323
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Osteopathia Striata-Cranial Sclerosis Syndrome	Retrognathia, High, narrow palate, Osteopetrosis, Delayed eruption of teeth, Increased bone miner...	ORPHA:2780
Ohdo Syndrome	Thin vermilion border, Widely spaced teeth, Narrow mouth, Hypoplasia of teeth, Micrognathia, Smoo...	OMIM:249620
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra...	ORPHA:99105
Blepharophimosis-Impaired Intellectual Development Syndrome	Widely spaced teeth, Short philtrum, Exaggerated cupid's bow, Microdontia, Enamel hypoplasia, Wid...	OMIM:619293
Aredyld Syndrome	Lipoatrophy, Advanced eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morpho...	ORPHA:1133
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Hypergonadotropic Hypogonadism-Cataract Syndrome	Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second...	ORPHA:2410
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea	OMIM:614858
Functioning Gonadotropic Adenoma	Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h...	ORPHA:91348
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal dental enamel morphology, Abnormal palate morphology	ORPHA:3236
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Peripartum Cardiomyopathy	Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Anemia, Left bundle...	ORPHA:563
Estrogen Resistance	Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre...	OMIM:615363
Post-Traumatic Pituitary Deficiency	Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes...	ORPHA:95619
Usher Syndrome Type 2	Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia	ORPHA:231178
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre...	OMIM:229070
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Brachydactyly, Type E2	Oligodontia, Delayed eruption of teeth	OMIM:613382
Craniolenticulosutural Dysplasia	Thin vermilion border, Delayed eruption of teeth, Premature loss of teeth, High palate, Decreased...	ORPHA:50814
Jalili Syndrome	Yellow-brown discoloration of the teeth, Carious teeth, Enamel agenesis	OMIM:217080
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Abn...	ORPHA:99429
Specific Granule Deficiency 2	Amelogenesis imperfecta, Conical tooth, Osteopenia, Tooth malposition	OMIM:617475
Akt2-Related Familial Partial Lipodystrophy	Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ovaries, Insulin-...	ORPHA:79085
Momo Syndrome	Abnormal bone ossification, Thick lower lip vermilion, Delayed eruption of teeth, High palate, Th...	ORPHA:2563
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Bilateral cleft palate, High palate, Bilateral cleft lip, Ankyloglossia, Enamel hypoplasia, Malar...	OMIM:618874
Premature Ovarian Failure 12	Primary amenorrhea	OMIM:616947
Ovarian Dysgenesis 8	Decreased cirrculating antimullerian hormone circulation, Elevated circulating follicle stimulati...	OMIM:618187
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Short philtrum, Delayed eruption of teeth, Macrodontia, Taurodontia	ORPHA:3214
Momo Syndrome	Thick lower lip vermilion, Delayed eruption of teeth, High palate, Smooth philtrum, Long philtrum...	OMIM:157980
Ovarian Dysgenesis 3	Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu...	OMIM:614324
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Dental malocclusion, Osteopetrosis, Diaphyseal sclerosis	OMIM:259730
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Optic Atrophy 16	Paroxysmal tachycardia	OMIM:620629
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Left bundle branch block, Ventricular arrhythmia, Increased left ventri...	OMIM:601493
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Rapp-Hodgkin Syndrome	Conical tooth, Narrow mouth, Microdontia, Hypoplasia of the maxilla, Carious teeth, Enamel hypopl...	OMIM:129400
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Decreased circulating total IgM, Increased circulating interleukin 6 conc...	OMIM:618944
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent...	OMIM:614837
Dysosteosclerosis	Osteopenia, Clavicular sclerosis, Delayed eruption of teeth, Absent frontal sinuses, Premature lo...	OMIM:224300
Androgen Insensitivity Syndrome	Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia, El...	OMIM:300068
Oslam Syndrome	Carious teeth, Radioulnar synostosis	ORPHA:2760
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Antegonial notching of mandible, Dental crowding, Oligodontia, High palate...	OMIM:170390
Osteochondrosis Of The Metatarsal Bone	Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones	ORPHA:564003
Branchioskeletogenital Syndrome	Thin vermilion border, Short philtrum, Rootless teeth, Premature loss of teeth, Abnormal dentin m...	ORPHA:1299
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:614129
X-Linked Intellectual Disability Due To Gria3 Mutations	Narrow palate, Short philtrum, Mandibular prognathia, Short upper lip, Thick vermilion border, Ma...	ORPHA:364028
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Delayed puberty, Small pituitary gland, High palate, Primary amenorrhea, Cleft lip, Cryptorchidis...	OMIM:612702
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly...	OMIM:115000
Leydig Cell Hypoplasia	Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal...	ORPHA:755
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes	OMIM:220400
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Camptodactyly of finger, Abnormal dental enamel morphology, Abnormality of the dentition, Taurodo...	ORPHA:3220
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Micrognathia, Osteopetrosis	OMIM:617306
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Premature Ovarian Failure 17	Decreased circulating inhibin B concentration, Premature ovarian insufficiency, Decreased cirrcul...	OMIM:619146
Mueller-Weiss Syndrome	Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiffness, Sclerosis of f...	ORPHA:566943
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ...	ORPHA:90793
Oculodentodigital Dysplasia, Autosomal Recessive	Thin vermilion border, Hypoplasia of the primary teeth, Delayed eruption of teeth, Dental crowdin...	OMIM:257850
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Downturned corners...	ORPHA:2107
Hemifacial Atrophy, Progressive	Short mandibular rami, Dental malocclusion, Tongue atrophy, Delayed eruption of teeth	OMIM:141300
Craniometaphyseal Dysplasia	Osteopetrosis, Craniofacial hyperostosis	ORPHA:1522
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormal bone ossification, Increased bone mineral density, High palate, Downturned corners of mo...	ORPHA:163649
Obesity Due To Congenital Leptin Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy...	ORPHA:66628
Raine Syndrome	Subperiosteal bone formation, Increased bone mineral density, Gingival overgrowth, Mandibular pro...	OMIM:259775
Premature Ovarian Failure 2A	Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ...	OMIM:300511
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, High palate, Elbow flexion contracture, Enamel hypopla...	OMIM:210600
Premature Ovarian Failure 14	Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ...	OMIM:618014
Variegate Porphyria	Tachycardia	OMIM:176200
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Hypoproteinemia	OMIM:221400
Hamamy Syndrome	Osteopenia, Inguinal hernia, Hypodontia, Recurrent fractures, High palate, Everted lower lip verm...	OMIM:611174
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Cohen Syndrome	High, narrow palate, Short philtrum, Hypoplasia of the maxilla, Micrognathia, Open mouth, Joint h...	OMIM:216550
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat...	OMIM:614897
48,Xxxy Syndrome	Inguinal hernia, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognat...	ORPHA:96263
Coronary Arterial Fistula	Congestive heart failure, Bicuspid aortic valve, Atrial septal defect, Cardiomegaly, Tachycardia,...	ORPHA:2041
Cidec-Related Familial Partial Lipodystrophy	Pancreatitis, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ova...	ORPHA:435651
46,Xx Gonadal Dysgenesis	Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas...	ORPHA:243
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia, Elevated circulating carcinoembryonic antigen concentration, Acute infectious pneumo...	ORPHA:264675
Amelogenesis Imperfecta, Type Ig	Amelogenesis imperfecta, Gingival fibromatosis, Dagger-shaped pulp calcifications, Gingival overg...	OMIM:204690
Partial Androgen Insensitivity Syndrome	Increased circulating antimullerian hormone concentration, Clitoral hypertrophy, Aplasia of the u...	ORPHA:90797
Aromatase Deficiency	Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism	OMIM:613546
Obesity Due To Leptin Receptor Gene Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy...	ORPHA:179494
Auriculocondylar Syndrome 1	Anterior open-bite malocclusion, Dental crowding, Mandibular condyle hypoplasia, Glossoptosis, Na...	OMIM:602483
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Retrognathia, Abnormal palate morphology, Carious teeth, Malar flattening, Joint hypermobility	ORPHA:1390
Long Qt Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy...	OMIM:192500
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Melorheostosis	Increased bone mineral density, Arthritis, Hyperostosis, Joint stiffness, Ectopic ossification in...	ORPHA:2485
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Delayed eruption of teeth, Delayed epiphyseal ossification, Enamel hypoplasia, Sparse bo...	ORPHA:289157
Coproporphyria, Hereditary	Tachycardia, Hypertension, Splenomegaly	OMIM:121300
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size...	ORPHA:3085
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Abnormality of the dentition, Osteoporosis	OMIM:615267
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia, Natal tooth	ORPHA:99811
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Carious teeth, Calvarial hyperostosis	OMIM:612714
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Hypertrophic cardiomyopathy, Increased C-peptide level, Syncope, Palpitations	ORPHA:276556
Satoyoshi Syndrome	Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of...	ORPHA:3130
Mucopolysaccharidosis Type 4	Grayish enamel, Reduced bone mineral density, Abnormal dental enamel morphology, Abnormality of t...	ORPHA:582
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Abnormality of the dentition, Dental malocclusion	ORPHA:1858
Diastrophic Dysplasia	Increased bone mineral density, Joint stiffness, Camptodactyly of finger, Micrognathia, Cleft pal...	ORPHA:628
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Small pituitary gland, Decreased testicular size, Cleft palate, Primary amenorrhea, Cryptorchidis...	OMIM:614880
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertrophic cardiomyopathy, A...	OMIM:612158
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Cardiomyopathy, Dilated, 1R	Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left vent...	OMIM:613424
Microcephalic Primordial Dwarfism, Montreal Type	Lipoatrophy, Abnormal palate morphology, Reduced bone mineral density, Open bite, Carious teeth, ...	ORPHA:2617
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia, Joint hypermobility, ...	ORPHA:2050
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Decreased testicular size, Absence of pubertal development, Diabetes mellitus, Primary amenorrhea...	OMIM:610628
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
49,Xxxxy Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognathia, Open bite, C...	ORPHA:96264
Polyembryoma	Isosexual precocious puberty, Increased serum testosterone level, Abnormality of the endocrine sy...	ORPHA:180229
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Advanced pneumatization of cranial sinuses, Premature...	ORPHA:85188
Left Ventricular Noncompaction 1	Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Left v...	OMIM:604169
Retinal Dystrophy With Or Without Extraocular Anomalies	Secondary amenorrhea, Goiter, Premature ovarian insufficiency	OMIM:617175
Perrault Syndrome 1	Gonadal dysgenesis, Increased circulating gonadotropin level, High palate, Primary amenorrhea	OMIM:233400
Tricho-Retino-Dento-Digital Syndrome	Supernumerary tooth, Oligodontia, Abnormality of the dentition	ORPHA:1264
Mandibuloacral Dysplasia	Lipoatrophy, Abnormal tongue morphology, Dental crowding, Loss of subcutaneous adipose tissue in ...	ORPHA:2457
Mandibuloacral Dysplasia With Type B Lipodystrophy	Decreased adipose tissue around neck, Generalized lipodystrophy, Progressive clavicular acroosteo...	OMIM:608612
Pituitary Gigantism	Premature pubarche, Increased circulating insulin-like growth factor 1 concentration, Mandibular ...	ORPHA:99725
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Mullerian Aplasia And Hyperandrogenism	Increased circulating androstenedione concentration, Aplasia of the vagina, Increased circulating...	OMIM:158330
Weismann-Netter Syndrome	Delayed eruption of permanent teeth, Calvarial hyperostosis	OMIM:112350
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal dental enamel morphology, Mandibular prognathia, High palate, Malar flattening	ORPHA:2180
Gray Platelet Syndrome	Abnormality of the menstrual cycle	ORPHA:721
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Abnormality of primary teeth, Incisor macrodontia, High palate, Tented upper lip vermilion, Thin ...	ORPHA:438216
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Amenorrhea, Premature ovarian insufficiency	OMIM:619425
Cleidocranial Dysplasia 1	Narrow palate, Supernumerary tooth, High, narrow palate, Increased susceptibility to fractures, D...	OMIM:119600
Premature Ovarian Failure 20	Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati...	OMIM:619938
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Oculodentodigital Dysplasia	Vertebral hyperostosis, Joint contracture of the 5th finger, Broad alveolar ridges, Premature los...	OMIM:164200
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Hypertrophic cardiomyopathy, Increased C-peptide level, Syncope, Palpitations	ORPHA:276575
Relapsing Fever	Anemia, Elevated circulating C-reactive protein concentration, Hypotension, Leukocytosis, Neutrop...	ORPHA:91547
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Delayed eruption of teeth...	ORPHA:289176
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr...	OMIM:115200
Pituitary Adenoma 1, Multiple Types	Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a...	OMIM:102200
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Anterior hypopituit...	ORPHA:2235
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Hypodontia, Carious teeth, Limb joint contracture, Reduced subcutaneous adipose tissue	OMIM:612079
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Lipodystrophy, Familial Partial, Type 3	Hyperinsulinemia, Maternal diabetes, Oligomenorrhea, Type II diabetes mellitus, Primary amenorrhe...	OMIM:604367
Normosmic Congenital Hypogonadotropic Hypogonadism	Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe...	ORPHA:432
Smith-Magenis Syndrome	Short philtrum, Mandibular prognathia, Joint stiffness, Cleft upper lip, Micrognathia, Cleft pala...	ORPHA:819
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Hypertrophic cardiomyopathy, Increased C-peptide level, Syncope, Palpitations	ORPHA:276580
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ...	OMIM:612347
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach...	ORPHA:300751
Bone Marrow Failure Syndrome 3	Amelogenesis imperfecta, Reduced bone mineral density, Oral ulcer, Microdontia, Enamel hypoplasia...	OMIM:617052
Frasier Syndrome	Ambiguous genitalia, male, Gonadoblastoma, Hypergonadotropic hypogonadism, Male pseudohermaphrodi...	ORPHA:347
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Delayed ossification of carpal bones, Laryngotracheomalacia, Glo...	ORPHA:93346
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Mandibular condyle hypoplasia, Increased size of the clitoris, Micrognathia, Fused labia minora, ...	ORPHA:2975
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal dental enamel morphology, Mandibular prognathia, Vaginal hernia, Cleft palate, Hypodonti...	ORPHA:2916
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature thelarche, D...	ORPHA:90795
Vascular Malformation, Primary Intraosseous	Gingival bleeding, Ectopic tooth eruption, Umbilical hernia	OMIM:606893
Craniometaphyseal Dysplasia, Autosomal Dominant	Cranial hyperostosis, Calvarial osteosclerosis, Tooth malposition, Dental crowding, Mandibular pr...	OMIM:123000
Cleidocranial Dysplasia	Supernumerary tooth, High, narrow palate, Delayed eruption of teeth, Abnormal dental enamel morph...	ORPHA:1452
Blepharo-Cheilo-Odontic Syndrome	Bilateral cleft palate, Carious teeth, Conical tooth	ORPHA:1997
Scarf Syndrome	Lambdoidal craniosynostosis, Inguinal hernia, Coronal craniosynostosis, Enamel hypoplasia, Umbili...	OMIM:312830
Craniometadiaphyseal Dysplasia	Osteopenia, Dental crowding, Mandibular prognathia, High palate, Microdontia, Carious teeth, Nata...	OMIM:269300
Codas Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Joint hypermobility, Delayed erupt...	ORPHA:1458
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le...	OMIM:600955
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint hypermobility, Tracheomalacia, Atrophic scars, High palate, Microdontia, Osteop...	ORPHA:536467
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Thin vermilion border, Conical incisor, Maxillary lateral incisor microdontia, Microg...	ORPHA:73223
Short Syndrome	Abnormal zygomatic bone morphology, Inguinal hernia, Abnormal dental enamel morphology, Abnormali...	ORPHA:3163
Bacterial Toxic-Shock Syndrome	Skin rash, Sinusitis, Myocarditis, Increased circulating myelocyte count, Pneumonia, Septic arthr...	ORPHA:36234
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Arthrogryposis, Distal, Type 12	Ankle flexion contracture, Inguinal hernia, Dental crowding, Agenesis of maxillary incisor, High ...	OMIM:620545
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular tach...	OMIM:613873
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	OMIM:614839
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow palate, Retrognathia, Short philtrum, Hypodontia, Narrow mouth, Hypoplasia of teeth, Micro...	OMIM:620250
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hypodontia, Enamel hypoplasia, Oligodontia	OMIM:607626
Celiac Disease, Susceptibility To, 1	Rickets, Recurrent aphthous stomatitis, Stomatitis, Osteoporosis, Enamel hypoplasia	OMIM:212750
Lipe-Related Familial Partial Lipodystrophy	Abnormal labia majora morphology, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin l...	ORPHA:435660
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Hemochromatosis, Type 2A	Azoospermia, Arthritis, Infertility, Amenorrhea, Hypogonadotropic hypogonadism	OMIM:602390
Temtamy Syndrome	Long philtrum, Dental crowding, Micrognathia, Hypoplasia of teeth	OMIM:218340
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enamel hypoplasia, Bifid uvula, Wide mouth, Abnormality of the dentition	OMIM:615802
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Cockayne Syndrome Type 1	Scarring, Hypoplasia of the primary teeth, Foot joint contracture, Mandibular prognathia, Abnorma...	ORPHA:90321
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Decreased proportion of class-switched memory B cells, Crohn's di...	OMIM:619705
Isolated Cleft Lip	Supernumerary maxillary incisor, Non-midline cleft of the upper lip, Velopharyngeal insufficiency...	ORPHA:199302
Estrogen Resistance Syndrome	Breast hypoplasia, Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulati...	ORPHA:785
Glucocorticoid Resistance, Generalized	Increased circulating androstenedione concentration, Increased serum testosterone level, Infertil...	OMIM:615962
Den Hoed-De Boer-Voisin Syndrome	Amelogenesis imperfecta, Widely spaced teeth, Delayed eruption of teeth, Yellow-brown discolorati...	OMIM:619229
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Secondary amenorrhea, Premature pubarche, Acne	OMIM:612847
Long Qt Syndrome 12	Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes	OMIM:612955
Congenital Myopathy 5 With Cardiomyopathy	Congestive heart failure, Elevated circulating creatine kinase concentration, Arrhythmia, Severel...	OMIM:611705
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Agenesis of permanent teeth,...	OMIM:150400
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple prenatal fractures, Decreased calvarial ossification, Dentinogenesis imperfe...	OMIM:610682
Alopecia Antibody Deficiency	Abnormality of dental color	ORPHA:1006
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ...	OMIM:613507
Congenital Syphilis	Periostitis, High palate, Notched primary central incisor, Synovitis, Semilunar tooth, Mulberry m...	ORPHA:499009
Romano-Ward Syndrome	Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S...	ORPHA:101016
Orofacial Cleft 15	Inguinal hernia, Palate fistula, Bilateral cleft palate, Agenesis of lateral incisor, Bilateral c...	OMIM:616788
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Subperiosteal bone formation, Osteosclerosis of the base of the skull	OMIM:609993
Hyperinsulinism Due To Hnf1A Deficiency	Syncope, Palpitations, Increased C-peptide level, Tachycardia	ORPHA:324575
Sanjad-Sakati Syndrome	Thin vermilion border, Abnormal dental enamel morphology, Abnormality of the dentition, Patchy os...	ORPHA:2323
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Enamel-Renal Syndrome	Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno...	ORPHA:1031
Congenital Disorder Of Glycosylation, Type Iil	Enamel hypoplasia, Retrognathia	OMIM:614576
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Abnormality of bone mineral density, Temporomandibular joint ankylosis,...	ORPHA:2741
Orofaciodigital Syndrome Type 2	Peg-shaped maxillary lateral incisors, High palate, Talon cusp, Agenesis of central incisor, Abno...	ORPHA:2751
Intellectual Developmental Disorder, Autosomal Recessive 79	Oligomenorrhea, Thin upper lip vermilion, Smooth philtrum, Eczematoid dermatitis	OMIM:620393
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril...	ORPHA:263297
Frasier Syndrome	Ovarian gonadoblastoma, Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea	OMIM:136680
Marshall Syndrome	Thick lower lip vermilion, Absent frontal sinuses, Knee osteoarthritis, Thick upper lip vermilion...	OMIM:154780
Cardiomyopathy, Familial Hypertrophic, 7	Atrial fibrillation, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hypertro...	OMIM:613690
Cerebellofaciodental Syndrome	Dental malocclusion, Macrodontia of permanent maxillary central incisor, Taurodontia	OMIM:616202
Infant Acute Respiratory Distress Syndrome	Pneumonia, Bradycardia, Cardiac arrest, Hypotension, Tachycardia	ORPHA:70587
Seckel Syndrome	Abnormal dental enamel morphology, Tooth agenesis, Micrognathia, Joint hypermobility, Craniosynos...	ORPHA:808
Immunodeficiency 69	Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Skin rash, Leukocytosis, Hepatosplenomega...	OMIM:618963
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Osteolytic defects of the distal phalanges of the hand, Dental crowding, Premature lo...	OMIM:248370
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Short philtrum, Oligodontia, Narrow mouth, Hypoplasia of teeth, Downturned corners of mouth, Micr...	ORPHA:391408
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Autosomal Recessive Spastic Paraplegia Type 77	Retrognathia, Macrodontia of permanent maxillary central incisor	ORPHA:466722
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Cleft upper lip, Cleft palate, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic h...	OMIM:244200
Acquired Methemoglobinemia	Tachycardia, Arrhythmia, Syncope, Palpitations, Methemoglobinemia	ORPHA:464453
Craniolenticulosutural Dysplasia	Osteopenia, Delayed eruption of teeth, High palate, Carious teeth, Hypoplasia of teeth, Bifid uvu...	OMIM:607812
Congenital Generalized Lipodystrophy	Clitoral hypertrophy, Hyperinsulinemia, Precocious puberty in females, Mandibular prognathia, Oli...	ORPHA:528
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Bilateral cleft palate, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal...	ORPHA:3253
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension, Elevated circulating creatine kinase concentration	OMIM:145600
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo...	ORPHA:91354
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se...	ORPHA:90796
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,...	ORPHA:206484
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Hypoplasia of teeth, Cleft palate, Microdontia, Widely spaced teeth	ORPHA:2728
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Cardiomyopathy, Familial Hypertrophic, 8	Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c...	OMIM:608751
Autosomal Recessive Kenny-Caffey Syndrome	Carious teeth, Calvarial osteosclerosis, Decreased skull ossification, Cortical thickening of lon...	ORPHA:93324
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Camptodactyly of finger, Carious teeth, Joint contracture of the 5th finger	ORPHA:1883
Lenz-Majewski Hyperostotic Dwarfism	Inguinal hernia, Knee flexion contracture, Hyperextensibility of the finger joints, Mandibular pr...	OMIM:151050
46,Xy Partial Gonadal Dysgenesis	Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor...	ORPHA:251510
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis	ORPHA:242
Oculodentodigital Dysplasia	Cranial hyperostosis, Abnormal cortical bone morphology, Hyperostosis, Broad alveolar ridges, Abn...	ORPHA:2710
Non-Functioning Pituitary Adenoma	Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency...	ORPHA:91349
Kilquist Syndrome	Hypoplasia of teeth, Mandibular prognathia, Wide mouth	OMIM:619080
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Foot joint contracture, Micrognathia, Long philtrum, Dental malocclusion, Macrod...	ORPHA:444072
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Secondary amenorrhea, Polycystic ovaries, Insulin-resistant diabetes mellitus, Hypergonadotropic ...	OMIM:268020
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia, Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, To...	ORPHA:90647
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Narrow palate, Retrognathia, Delayed eruption of teeth, Conical incisor, Oligodontia, Gingival ov...	OMIM:235510
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism	ORPHA:2229
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses	OMIM:166740
Naxos Disease	Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ...	ORPHA:34217
Lenz-Majewski Hyperostotic Dwarfism	Cranial hyperostosis, High, narrow palate, Osteopetrosis, Abnormal cortical bone morphology, Ingu...	ORPHA:2658
Nail-Patella Syndrome	Limited elbow extension, Reduced bone mineral density, Knee joint hypermobility, Arthritis, Proxi...	ORPHA:2614
Chronic Atrial And Intestinal Dysrhythmia	Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric...	OMIM:616201
Vaginal Atresia	Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ...	ORPHA:65681
Myotonic Dystrophy 2	Decreased circulating total IgM, Right bundle branch block, Elevated circulating creatine kinase ...	OMIM:602668
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Premature loss of teeth, Osteoporosis, Ankylosis, Mac...	OMIM:239000
Xfe Progeroid Syndrome	Enamel hypoplasia, Corneal scarring, Premature loss of teeth, Absence of subcutaneous fat	OMIM:610965
Pituitary Stalk Interruption Syndrome	Delayed puberty, Hypoplasia of penis, Diabetes insipidus, Adrenal hypoplasia, Abnormality of the ...	ORPHA:95496
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Camptodactyly, Micrognathia, Malar flattening, Dental malocclusion, Joint contracture of the hand	OMIM:608257
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, L...	OMIM:611878
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Prolonged QT interval, Hypoproteinemia, Elevated circulating creatine kinase concentra...	ORPHA:26793
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial arrhythmia, Elevated circulating...	OMIM:300257
Hidrotic Ectodermal Dysplasia, Halal Type	Retrognathia, Supernumerary nipple, Irregular menstruation	ORPHA:1809
Hemochromatosis, Type 3	Amenorrhea, Hypogonadotropic hypogonadism, Impotence, Arthritis	OMIM:604250
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion	OMIM:601957
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Hypophosphatemic rickets, Osteoarthritis, Enamel hypomineralization, Osteomalacia	OMIM:307800
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Arthrogryposis And Ectodermal Dysplasia	Orofacial cleft, Abnormal dental enamel morphology, Oligodontia, Camptodactyly, Cleft upper lip, ...	OMIM:601701
Immunodeficiency 14B, Autosomal Recessive	Thrombocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine, Decreased c...	OMIM:619281
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Limited elbow extension, Retrognathia, Distal symphalangism, Microdontia, Enamel hypoplasia	OMIM:210720
Cardiospondylocarpofacial Syndrome	High, narrow palate, Failure of eruption of permanent teeth, Synostosis of carpal bones, Tooth ma...	ORPHA:3238
Sweet Syndrome	Small vessel vasculitis, Panniculitis, Acute myeloid leukemia, Elevated circulating C-reactive pr...	ORPHA:3243
Leber Hereditary Optic Neuropathy	Ventricular preexcitation, Retinal telangiectasia, Arrhythmia	ORPHA:104
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome, Primary amenorrhea, Ambi...	OMIM:202110
Knobloch Syndrome 2	Enamel hypoplasia, Micrognathia	OMIM:618458
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormality of the dentition, Carious teeth, Abnormal oral mucosa morphology, Hypodontia, Ankylos...	ORPHA:659
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Delayed puberty, Tooth agenesis, Cleft upper lip, Cleft palate, Primary amenorrhea, Cryptorchidis...	OMIM:147950
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:607487
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Ventricular tachycardia, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:600649
Luscan-Lumish Syndrome	Recurrent otitis media, Mandibular prognathia, Malar flattening, Polycystic ovaries, Irregular me...	OMIM:616831
Acrofacial Dysostosis, Catania Type	Carious teeth, Micrognathia, Cleft palate, Malar flattening	OMIM:101805
Carnitine-Acylcarnitine Translocase Deficiency	Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventricular contraction, Elev...	OMIM:212138
Mucopolysaccharidosis, Type Iva	Grayish enamel, Widely spaced teeth, Inguinal hernia, Mandibular prognathia, Osteoporosis, Cariou...	OMIM:253000
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
W Syndrome	Camptodactyly, Upper lip pit, Submucous cleft hard palate, Broad uvula, Agenesis of maxillary cen...	ORPHA:2804
Odontoonychodermal Dysplasia	Smooth tongue, Conical incisor, Abnormality of primary teeth, Hypodontia, Agenesis of permanent t...	OMIM:257980
Macrophage Activation Syndrome	Anemia, Hemophagocytosis, Elevated circulating C-reactive protein concentration, Abnormal natural...	ORPHA:158061
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Renal Hypodysplasia/Aplasia 1	Retrognathia, Bicornuate uterus, Vaginal atresia, Primary amenorrhea	OMIM:191830
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Snakebite Envenomation	Hypotension, Cerebral ischemia, Cardiogenic shock, Epistaxis, Thrombocytopenia, Intracranial hemo...	ORPHA:449285
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Synostosis of joints, Protruding tongue, Micrognathia, Natal toot...	ORPHA:50945
Lipodystrophy, Familial Partial, Type 5	Diabetic ketoacidosis, Decreased serum leptin, Decreased adiponectin level, Irregular menstruation	OMIM:615238
Corneodermatoosseous Syndrome	Abnormal dental enamel morphology, Carious teeth, Gingivitis	ORPHA:3194
Rh Deficiency Syndrome	Reduced haptoglobin level, Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisoc...	ORPHA:71275
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Familial Afibrinogenemia	Menometrorrhagia, Gingival bleeding	ORPHA:98880
Classic Galactosemia	Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M...	ORPHA:79239
Spondylocarpotarsal Synostosis Syndrome	Limited elbow extension, Tarsal synostosis, Inguinal hernia, Enamel hypoplasia, Cleft palate, Fai...	OMIM:272460
Sepsis In Premature Infants	Anemia, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protei...	ORPHA:90051
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Skin rash, Autoimmune hemolytic anemia	ORPHA:90036
Cenani-Lenz Syndrome	High, narrow palate, Short philtrum, Abnormal dental enamel morphology, Synostosis of carpal bone...	ORPHA:3258
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Orofaciodigital Syndrome I	Supernumerary tooth, High palate, Ankyloglossia, Agenesis of permanent teeth, Carious teeth, Enam...	OMIM:311200
46,Xy Sex Reversal 7	Gonadal dysgenesis, male, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallo...	OMIM:233420
Trichothiodystrophy	Osteopenia, Retrognathia, High, narrow palate, Increased bone mineral density, Enamel hypoplasia,...	ORPHA:33364
12Q14 Microdeletion Syndrome	Thin vermilion border, Osteopoikilosis, Downturned corners of mouth, Micrognathia, Hypodontia	ORPHA:94063
Immunodeficiency 27A	Anemia, Increased circulating IgG level, Salmonella osteomyelitis, Leukocytosis, Histiocytosis, I...	OMIM:209950
Prolactinoma	Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,...	ORPHA:2965
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Enamel hypoplasia, Omphalocele	OMIM:243150
Graft Versus Host Disease	Gastrointestinal inflammation, Pneumonia, Hemophagocytosis, Inflammatory abnormality of the eye, ...	ORPHA:39812
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 23 concentration, Hypochromic microcytic anemia, Reduced circulat...	OMIM:619632
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Tachycardia, Elevated circulating creatine kinase concentration, Highly elevated creatine kinase,...	ORPHA:368
Pde4D Haploinsufficiency Syndrome	Short philtrum, Abnormal dental enamel morphology, Mandibular prognathia, Hypoplasia of the maxil...	ORPHA:439822
Osteogenesis Imperfecta	Reduced bone mineral density, Decreased skull ossification, Dentinogenesis imperfecta, Umbilical ...	ORPHA:666
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Pseudohypoparathyroidism Type 1C	Increased bone mineral density, Enamel hypoplasia, Ectopic ossification, Delayed eruption of teeth	ORPHA:79444
High Altitude Pulmonary Edema	Tachycardia, Leukocytosis	ORPHA:330012
Mucopolysaccharidosis, Type Ivb	Grayish enamel, Widely spaced teeth, Inguinal hernia, Mandibular prognathia, Osteoporosis, Joint ...	OMIM:253010
Lacrimoauriculodentodigital Syndrome 2	Hypodontia, Carious teeth, Microdontia, Conical tooth	OMIM:620192
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Tachycardia, Chronic lymphatic le...	ORPHA:98849
Peritoneal Cystic Mesothelioma	Metrorrhagia, Menorrhagia, Dyspareunia, Peritonitis	ORPHA:168816
Ellis Van Creveld Syndrome	Thin vermilion border, Delayed eruption of teeth, Conical incisor, Abnormality of the dentition, ...	ORPHA:289
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Absent trapezium, Distal symphalangism of hands, Microdontia, Pulp calcification, Distal foot sym...	OMIM:606895
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal palate morphology, Tarsal synostosis, Abnormal dental enamel morphology, Abnormal dental...	ORPHA:85199
Codas Syndrome	Delayed eruption of teeth, Delayed ossification of carpal bones, Omphalocele, Enamel hypoplasia, ...	OMIM:600373
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture	OMIM:620366
Otopalatodigital Syndrome Type 2	Tarsal synostosis, Increased bone mineral density, Oligodontia, Glossoptosis, Narrow mouth, Synos...	ORPHA:90652
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Ventricular arrhythmia, Microangiopathic hemolytic anemia	OMIM:141000
Glanzmann Thrombasthenia	Menorrhagia, Gingival bleeding, Menometrorrhagia	ORPHA:849
Developmental And Epileptic Encephalopathy 100	Bilateral camptodactyly, Gingival overgrowth, Elbow flexion contracture, High palate, Microdontia...	OMIM:619777
Congenital Factor Vii Deficiency	Menorrhagia, Gingival bleeding, Ovarian cyst	ORPHA:327
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr...	OMIM:620247
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Smooth tongue, Atrophic scars, Enamel hypoplasia, Craniosynostosis, Oral mucosal blisters	ORPHA:79396
Schimke Immuno-Osseous Dysplasia	Hypodontia, Abnormal primary molar morphology, Microdontia	ORPHA:1830
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia	ORPHA:276608
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Cleft lip, Notched primary central incisor	OMIM:620519
Cranioectodermal Dysplasia 3	Widely spaced teeth, Everted lower lip vermilion, Hypoplasia of teeth, Micrognathia, Joint hyperm...	OMIM:614099
Crisponi/Cold-Induced Sweating Syndrome 1	Limited elbow extension, Retrognathia, Elbow flexion contracture, High palate, Narrow mouth, Camp...	OMIM:272430
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia	OMIM:240300
Desmosterolosis	Retrognathia, Osteopetrosis, Increased bone mineral density, Narrow mouth, Micrognathia, Bifid uv...	ORPHA:35107
Immunodeficiency 9	Amelogenesis imperfecta, Recurrent aphthous stomatitis, Stomatitis	OMIM:612782
Autosomal Dominant Hypophosphatemic Rickets	Tooth abscess, Rickets, Osteomalacia	ORPHA:89937
Immune Dysregulation, Autoimmunity, And Autoinflammation	Increased circulating interleukin 6 concentration, Anemia, Epistaxis, Abnormal circulating C-reac...	OMIM:620514
Acrootoocular Syndrome	Supernumerary tooth, Grayish enamel, High, narrow palate, Dental malocclusion, Delayed eruption o...	ORPHA:2980
Brugada Syndrome 2	Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree...	OMIM:611777
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Panniculitis, Anemia, Elevated circulating C-reactive protein concentrat...	OMIM:608068
Usher Syndrome	Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology, Microdontia	ORPHA:886
Dyskeratosis Congenita	Periodontitis, Abnormality of the dentition, Osteoporosis, Hypoplasia of the maxilla, Carious tee...	ORPHA:1775
Rothmund-Thomson Syndrome	Osteopenia, Supernumerary tooth, Reduced bone mineral density, Delayed eruption of teeth, Abnorma...	ORPHA:2909
Orofaciodigital Syndrome Ii	High palate, Agenesis of central incisor, Hypoplasia of the maxilla, Micrognathia, Cleft palate, ...	OMIM:252100
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia, Retrobulbar optic neuritis	OMIM:619737
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Recurrent fractures, Craniosynostosis	ORPHA:251004
Tropical Endomyocardial Fibrosis	P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, Pulmonary venous hypertens...	ORPHA:75565
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Congestive heart failure, Chronic lymphatic leukemia, Splenomegaly, ...	ORPHA:90033
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations	OMIM:188580
Satoyoshi Syndrome	Amenorrhea, Hypoplasia of the uterus	OMIM:600705
Trichothiodystrophy 4, Nonphotosensitive	Hypoplasia of teeth, Retrognathia	OMIM:234050
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Small pituitary gla...	ORPHA:2232
Muscular Dystrophy, Congenital, Lmna-Related	Paroxysmal atrial fibrillation, Ventricular tachycardia, Paroxysmal atrial tachycardia, Elevated ...	OMIM:613205
Cleidocranial Dysplasia 2	Osteopenia, Supernumerary tooth, Delayed pubic bone ossification, Delayed ossification of carpal ...	OMIM:620099
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular...	ORPHA:1329
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Supraventricular arrhythmia, Transient ischemic attack, Pulmonary arterial h...	ORPHA:99103
Costello Syndrome	Narrow palate, Thick lower lip vermilion, Abnormal dental enamel morphology, Abnormality of the d...	ORPHA:3071
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Budd-Chiari syndrome, Cerebral ischem...	OMIM:263300
Pparg-Related Familial Partial Lipodystrophy	Pancreatitis, Maternal diabetes, Secondary amenorrhea, Oligomenorrhea, Dysmenorrhea, Primary amen...	ORPHA:79083
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat...	ORPHA:99106
Tetanus	Tachycardia, Hypertension, Elevated circulating creatine kinase concentration, Bradycardia	ORPHA:3299
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, High palate, Female infertility, Amenorrhea, Increased circulati...	OMIM:110100
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Atrophic scars, Carious teeth, Atypical scarring of skin, Keloids, Oral mucosal blisters	ORPHA:79410
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d...	OMIM:617222
Kenny-Caffey Syndrome, Type 1	Carious teeth, Calvarial osteosclerosis, Decreased skull ossification	OMIM:244460
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Abnormal circul...	ORPHA:57777
Primary Hyperoxaluria	Rootless teeth, Abnormality of the dentition, Generalized osteosclerosis, Abnormal dental pulp mo...	ORPHA:416
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Hypocalcification of dental enamel	ORPHA:169090
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Joint stiffness, Abnormal dental enamel morphology, Synostosis of carpal bones	ORPHA:1005
Hydroxykynureninuria	Tachycardia, Hypotension, Stomatitis	ORPHA:79155
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische...	ORPHA:99104
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin vermilion border, Patchy osteosclerosis, Micrognathia, Bifid uvula, Long philtrum, Thin uppe...	OMIM:241410
Sclerosteosis 1	Tooth malposition, Mandibular prognathia, Cortically dense long tubular bones, Malar flattening, ...	OMIM:269500
Adult Acute Respiratory Distress Syndrome	Pancreatitis, Increased circulating interleukin 6 concentration, Vasculitis, Hypotension, Abnorma...	ORPHA:70578
Cranioectodermal Dysplasia 1	High, narrow palate, Widely spaced teeth, Inguinal hernia, High palate, Everted lower lip vermili...	OMIM:218330
3M Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Everted lower lip vermilion, Long p...	ORPHA:2616
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Delayed eruption of teeth, Conical tooth, Abnormal dental enamel morphology,...	ORPHA:1071
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi...	ORPHA:90794
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Mccune-Albright Syndrome	Pancreatitis, Increased serum testosterone level, Abnormal facial skeleton morphology, Dental mal...	ORPHA:562
Cockayne Syndrome A	Loss of facial adipose tissue, Mandibular prognathia, Limitation of joint mobility, Hypoplasia of...	OMIM:216400
Hypoplasminogenemia	Abnormal fallopian tube morphology, Periodontitis, Gingival overgrowth, Gingivitis, Cervicitis, A...	ORPHA:722
Generalized Glucocorticoid Resistance Syndrome	Abnormal circulating testosterone concentration, Ambiguous genitalia, Infertility, Oligozoospermi...	ORPHA:786
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Oligodontia, Exaggerated cupid's bow, Long upper lip, Everted lower lip ve...	ORPHA:364577
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P...	OMIM:601214
Chronic Mucocutaneous Candidiasis	Abnormal dental enamel morphology, Cheilitis, Abnormal lip morphology	ORPHA:1334
Pseudohypoparathyroidism Type 1A	Reduced bone mineral density, Delayed eruption of teeth, Increased bone mineral density, Ectopic ...	ORPHA:79443
Timothy Syndrome	Pneumonia, Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular ...	OMIM:601005
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Velopharyngeal insufficiency, Micrognathia, Dental malocclusion	OMIM:613680
Kallmann Syndrome	Delayed puberty, Breast hypoplasia, Erectile dysfunction, Anterior hypopituitarism, Hypoplasia of...	ORPHA:478
Lipodystrophy, Familial Partial, Type 4	Oligomenorrhea, Insulin-resistant diabetes mellitus	OMIM:613877
Ring Chromosome 21 Syndrome	Amenorrhea, Infertility, Diabetes insipidus, Azoospermia	ORPHA:1445
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ...	OMIM:171420
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Epistaxis, Splenomegaly, Leukopenia, Erythema nodosum, Di...	ORPHA:99827
Koolen-De Vries Syndrome	Narrow palate, High, narrow palate, Abnormal dental enamel morphology, Abnormality of the dentiti...	ORPHA:96169
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Inguinal hernia, Abnormal dental enamel morphology, Microdontia, Cleft palate, Hypo...	ORPHA:1812
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Conical tooth, Everted lower lip vermilion, Microdontia, Hypoplasia ...	OMIM:305100
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Dyskeratosis Congenita, Autosomal Recessive 6	Premature loss of teeth, Carious teeth, Oral leukoplakia	OMIM:616353
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Elevated circulating C-reactive protein concentration, Arthritis, ...	OMIM:611762
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Treacher-Collins Syndrome	Retrognathia, Abnormal dental enamel morphology, Abnormality of bone mineral density, Open bite, ...	ORPHA:861
Schnitzler Syndrome	Anemia, Vasculitis, Skin rash, Arthritis, Leukocytosis, Increased circulating IgM level, Splenome...	ORPHA:37748
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin vermilion border, Radioulnar synostosis, Velopharyngeal insufficiency, Cleft palate, Enamel ...	OMIM:614701
Long Qt Syndrome 16	Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia	OMIM:618782
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Recurrent otitis media, Increased circulating interleukin 6 concentr...	OMIM:620430
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis, Allergic rhinitis, Conjunctivitis	ORPHA:26137
Lead Poisoning	Delayed puberty, Decreased male libido, Delayed eruption of teeth, Skin rash, Infertility, Oligoz...	ORPHA:330015
Lelis Syndrome	Hypodontia, Carious teeth, Mandibular prognathia, Furrowed tongue	ORPHA:140936
Interstitial Cystitis	Abnormal labia morphology, Abnormal vagina morphology, Dyspareunia, Abnormality of the menstrual ...	ORPHA:37202
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Bradycardia, Atrial fibrillation, Elevated circulating creatine kinase con...	OMIM:613327
Congenital Disorder Of Glycosylation, Type Iim	Short philtrum, Mandibular prognathia, Exaggerated cupid's bow, High palate, Fused teeth, Enamel ...	OMIM:300896
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure, Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancyto...	ORPHA:75564
Craniosynostosis 2	Supernumerary tooth, Unicoronal synostosis, Cleft soft palate, Bicoronal synostosis, Craniosynost...	OMIM:604757
Atrial Standstill 2	Bradycardia, Cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I, Absent P wave, Palpitation...	OMIM:615745
Short Qt Syndrome 7	Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death	OMIM:620231
Desmosterolosis	Gingival fibromatosis, Micrognathia, Cleft palate, Generalized osteosclerosis, Arthrogryposis mul...	OMIM:602398
Lig4 Syndrome	Hypothyroidism, Type II diabetes mellitus, Amenorrhea, Psoriasiform dermatitis, Cryptorchidism, M...	OMIM:606593
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia, Aspiration pneumonia	ORPHA:79264
Schwartz-Jampel Syndrome	Flexion contracture of toe, Everted lower lip vermilion, Wrist flexion contracture, Abnormally os...	ORPHA:800
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Osteopetrosis, Recurrent fractures	OMIM:611490
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Cherubism	Narrow palate, Oligodontia, Jaw swelling, Dental malocclusion, Multiple impacted teeth, Alveolar ...	OMIM:118400
Adenohypophysitis	Reduced circulating prolactin concentration, Decreased male libido, Pituitary hypothyroidism, Abn...	ORPHA:95512
Oculocerebrorenal Syndrome Of Lowe	Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Joint stiffness, Umbilic...	ORPHA:534
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Hypoplasia of the tooth germ, Micrognathia, Bifid uvula, Contracture of the proximal interphalang...	ORPHA:293967
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Narrow mouth, Carious teeth, Downturned corners of mouth, Hypoplasia of th...	ORPHA:1110
Osteopetrosis, Autosomal Recessive 5	Cranial hyperostosis, Osteopetrosis, Increased bone mineral density, Gingival overgrowth, Decreas...	OMIM:259720
Orofaciodigital Syndrome Iii	Supernumerary tooth, Microdontia, Bifid uvula, Tongue nodules, Bifid tongue	OMIM:258850
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Ovarian Fibroma	Odontogenic keratocysts of the jaw, Ovarian fibroma, Abnormality of the ovary, Peritonitis, Gonad...	ORPHA:314473
Mayer-Rokitansky-Küster-Hauser Syndrome	Endometriosis, Aplasia of the uterus, Dyspareunia, Ectopic ovary, Hypoplasia of the vagina, Prima...	ORPHA:3109
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Megaloblastic anemia, Cardiac arrest, Paroxysmal atrial tachycardia, Th...	ORPHA:49827
Panhypophysitis	Central diabetes insipidus, Reduced circulating prolactin concentration, Decreased male libido, P...	ORPHA:95513
Marburg Hemorrhagic Fever	Increased circulating antibody level, Bradycardia, Skin rash, Reticulocytosis, Pericarditis, Leuk...	ORPHA:99826
Acrocallosal Syndrome	Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Umbilica...	OMIM:200990
Congenital Disorder Of Glycosylation, Type It	Recurrent otitis media, Elevated circulating creatine kinase concentration, Pulmonary arterial hy...	OMIM:614921
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a...	OMIM:108950
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Hypertension	OMIM:613870
Rothmund-Thomson Syndrome, Type 2	Supernumerary tooth, Delayed eruption of teeth, Mandibular prognathia, High palate, Microdontia, ...	OMIM:268400
Eec Syndrome	Orofacial cleft, Abnormal dental enamel morphology, Microdontia, Tooth agenesis, Carious teeth, C...	ORPHA:1896
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit...	ORPHA:91351
Brugada Syndrome 6	ST segment elevation, Cardiac arrest, Ventricular fibrillation	OMIM:613119
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Pneumonia, Anemia, Melena, Acute tubulointerstitial nephritis, Increased circulating...	ORPHA:340
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Diaphyseal sclerosis, Increased skull ossification, Tented upper lip vermilion, Cr...	OMIM:618476
Hemochromatosis, Type 1	Azoospermia, Impotence, Diabetes mellitus, Amenorrhea, Hypogonadotropic hypogonadism, Testicular ...	OMIM:235200
Immunodeficiency 10	Amelogenesis imperfecta	OMIM:612783
Andersen-Tawil Syndrome	Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,...	ORPHA:37553
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Immunodeficiency 92	Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:619652
Chand Syndrome	Agenesis of maxillary incisor, Abnormal oral frenulum morphology, Commissural lip pit, Cleft pala...	ORPHA:1401
Interatrial Communication	Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
Gangliocytoma	Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Impotence, Abnormal prol...	ORPHA:251937
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Premature ovarian insufficiency, Hypoplasia of the uterus, Lacrimal gland aplasia, Decreased circ...	ORPHA:572333
Ghosal Hematodiaphyseal Dysplasia	Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis	OMIM:231095
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Abnormality of blood circulation, Left ventricula...	ORPHA:860
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary arterial hyperten...	OMIM:613426
Orofaciodigital Syndrome Type 1	Reduced bone mineral density, Tarsal synostosis, Broad alveolar ridges, Abnormal dental enamel mo...	ORPHA:2750
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Retrognathia, Inguinal hernia, Tracheomalacia, Dental crowding, High palate, Umbilical hernia, Hy...	OMIM:620654
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Panniculitis, Elevated circulating C-reactive protein concentration, Increased proportion of CD4-...	OMIM:617099
Acrodysostosis 1 With Or Without Hormone Resistance	Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ...	OMIM:101800
Juvenile Arthritis	Skin rash, Thrombocytosis, Leukocytosis	OMIM:618795
Lowe Oculocerebrorenal Syndrome	Rickets, Pathologic fracture, Osteomalacia, Corneal scarring, Camptodactyly of finger, Enamel hyp...	OMIM:309000
Werner Syndrome	Neoplasm of the oral cavity, Lipoatrophy, Increased bone mineral density, Osteoporosis, Joint sti...	ORPHA:902
Elsahy-Waters Syndrome	Agenesis of incisor, Supernumerary tooth, Thick lower lip vermilion, Cervical C2/C3 vertebral fus...	OMIM:211380
Mercury Poisoning	Tachycardia, Interstitial pneumonitis, Hypertension, Hypotension	ORPHA:330021
Neuroleptic Malignant Syndrome	Thrombocytosis, Bradycardia, Hypertension, Hypotension, Hypertensive crisis, Elevated circulating...	ORPHA:94093
Cocaine Intoxication	Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H...	ORPHA:90068
Stiff-Person Syndrome	Tachycardia, Hypertension, Anemia	OMIM:184850
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hypophosphatemic rickets, Abnormality of dental color, Abnormal dental morphology, Re...	OMIM:163200
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Thin vermilion border, Short philtrum, Joint contracture of the 5th finger, Inguinal ...	ORPHA:363611
Bosma Arhinia Microphthalmia Syndrome	Dental malocclusion, Inguinal hernia, High palate, Hypoplasia of teeth, Paranasal sinus hypoplasi...	OMIM:603457
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Rothmund-Thomson Syndrome Type 2	Finger symphalangism, Osteopenia, Delayed eruption of teeth, Abnormal dental enamel morphology, H...	ORPHA:221016
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Ventricular tachycardia, Dilated cardiomyopathy	OMIM:615821
Spondyloepiphyseal Dysplasia Tarda	Limited elbow movement, Localized osteoporosis, Stiff knee, Hip osteoarthritis, Increased bone mi...	ORPHA:93284
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy...	ORPHA:91
Lacrimoauriculodentodigital Syndrome	Orofacial cleft, Abnormal salivary gland morphology, Abnormal dental enamel morphology, Arthritis...	ORPHA:2363
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Anemia, Tricuspid regurgitation, Pulmonary arterial hypertension, Hyper...	ORPHA:505248
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Histiocytoid Cardiomyopathy	Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Su...	ORPHA:137675
Familial Cold Autoinflammatory Syndrome 1	Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Leukocytosis, Conjun...	OMIM:120100
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu...	OMIM:610489
Wolfram Syndrome 2	Oligomenorrhea, Diabetes mellitus, Diabetes insipidus, Primary amenorrhea	OMIM:604928
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia	OMIM:613239
Trichothiodystrophy 6, Nonphotosensitive	Increased bone mineral density, Coronal craniosynostosis	OMIM:616943
Congenital Fibrinogen Deficiency	Tachycardia, Splenic rupture, Internal hemorrhage	ORPHA:335
Scorpion Envenomation	Myocarditis, Congestive heart failure, Increased circulating NT-proBNP concentration, Prominent U...	ORPHA:466677
Eosinophilic Gastroenteritis	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Atopic dermatitis, E...	ORPHA:2070
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Rothmund-Thomson Syndrome Type 1	Finger symphalangism, Osteopenia, Delayed eruption of teeth, Abnormal dental enamel morphology, A...	ORPHA:221008
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Salmonella osteomyelitis, Lymphadenitis, Vasculitis in the skin, Abnormal circulating interleukin...	ORPHA:319552
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Prolonged QTc interval, Cardiac arrest, Elevated circulating creatine kinase concentration, Hyper...	OMIM:616878
Eisenmenger Syndrome	Left-to-right shunt, Heart murmur, Right-to-left shunt, Elevated jugular venous pressure, Suprave...	ORPHA:97214
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein concentration, Pancytopen...	ORPHA:158057
Familial Osteodysplasia, Anderson Type	Abnormal zygomatic bone morphology, Abnormal cortical bone morphology, Tooth malposition, Mandibu...	ORPHA:2769
Cinca Syndrome	Anemia, Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Leukocytosis...	OMIM:607115
Diffuse Cutaneous Systemic Sclerosis	Carious teeth, Arthritis, Flexion contracture, Osteolysis	ORPHA:220393
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Carnitine-Acylcarnitine Translocase Deficiency	Cardiomyopathy, Hypotension, Elevated creatine kinase after exercise, Arrhythmia, Ventricular tac...	ORPHA:159
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta	OMIM:248190
Dyskeratosis Congenita, Autosomal Recessive 1	Carious teeth, Osteoporosis, Microdontia, Oral leukoplakia	OMIM:224230
Ebstein Anomaly	Atrial fibrillation, Right bundle branch block, Ventricular preexcitation, Sudden cardiac death, ...	OMIM:224700
Distal Duplication 5Q	Thin vermilion border, Narrow mouth, Carious teeth, Micrognathia, Long philtrum, Craniosynostosis...	ORPHA:96097
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Bacterial endocarditis, Heart block, Premature ventricular contraction	ORPHA:1964
Cornelia De Lange Syndrome 6	Long philtrum, Cleft lip, Macrodontia of permanent maxillary central incisor, Inguinal hernia	OMIM:620568
Paget Disease Of Bone 2, Early-Onset	Premature loss of teeth, Osteosclerosis of the ulna, Fractures of the long bones, Sclerosis of sk...	OMIM:602080
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hyperhidrosis, Hypogonadis...	ORPHA:91347
Acrodysostosis	Abnormal female external genitalia morphology, Delayed eruption of teeth, Mandibular prognathia, ...	ORPHA:950
Faciocardiomelic Syndrome	Osteopenia, Thin bony cortex, Micrognathia, Wide mouth, Long philtrum, Dental malocclusion, Hyper...	OMIM:612731
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Carious teeth, Dental malocclusion, Microretrognathia	OMIM:615560
Pseudo-Torch Syndrome 3	Anemia, Hypertension, Lymphadenitis, Leukocytosis, Cerebral hemorrhage, Increased circulating fer...	OMIM:618886
Non-Acquired Panhypopituitarism	Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s...	ORPHA:90695
Rubinstein-Taybi Syndrome 1	Narrow palate, Retrognathia, High, narrow palate, Dental crowding, Keloids, Narrow mouth, Talon c...	OMIM:180849
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Arthritis, Synovi...	ORPHA:85435
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Neuroendocrine neoplasm, Decreased circulating ACTH concentration, Macronodular adrenal hyperplas...	ORPHA:189427
Kindler Epidermolysis Bullosa	Cheilitis, Periodontitis, Abnormal dental enamel morphology, Gingivitis, Carious teeth, Premature...	ORPHA:2908
Malignant Hyperthermia Of Anesthesia	Supraventricular tachycardia, Premature ventricular contraction, Elevated creatine kinase after e...	ORPHA:423
Symptomatic Form Of Hfe-Related Hemochromatosis	Erectile dysfunction, Arthritis, Infertility, Decreased libido, Testicular atrophy, Hypothyroidis...	ORPHA:465508
Generalized Pustular Psoriasis	Congestive heart failure, Cheilitis, Elevated circulating C-reactive protein concentration, Arthr...	ORPHA:247353
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Inguinal hernia, Abnormal adipose tissue morphology, Abnormal de...	ORPHA:2092
Cockayne Syndrome Type 3	Enamel hypoplasia, Carious teeth, Flexion contracture	ORPHA:90324
Hyperthyroidism, Nonautoimmune	Tachycardia, Increased circulating thyroglobulin concentration	OMIM:609152
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Pancytopenia, Dilated cardiomyopathy, Skin rash	OMIM:618321
Sheehan Syndrome	Breast hypoplasia, Central diabetes insipidus, Reduced circulating prolactin concentration, Pitui...	ORPHA:91355
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
Congenitally Corrected Transposition Of The Great Arteries	Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic...	ORPHA:216694
16P12.1P12.3 Triplication Syndrome	Tachycardia	ORPHA:485405
Hypomagnesemia 3, Renal	Amelogenesis imperfecta, Enamel hypoplasia, Rickets, Hypomature enamel	OMIM:248250
Majeed Syndrome	Increased bone mineral density, Synovitis, Flexion contracture, Osteomyelitis, Increased suscepti...	ORPHA:77297
Congenital Enterovirus Infection	Myocarditis, Anemia, Abnormal macrophage morphology, Skin rash, Cardiomyopathy, Hypotension, Leuk...	ORPHA:292
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno...	ORPHA:95699
Severe Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Abnormal oral mucosa morphology, Erosion of oral mucosa, Osteoporosis	ORPHA:79404
Hereditary Coproporphyria	Tachycardia	ORPHA:79273
Cockayne Syndrome	Congenital contracture, Abnormal dental morphology, Enamel hypoplasia, Carious teeth, Reduced sub...	ORPHA:191
Incontinentia Pigmenti	Orofacial cleft, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental mo...	ORPHA:464
Malakoplakia	Prostate neoplasm, Skin rash, Inflammatory abnormality of the skin, Orchitis, Abnormality of the ...	ORPHA:556
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Splenomegaly, Lymphopenia, ...	ORPHA:3261
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Pancreatitis, Ovarian neoplasm, Precocious puberty, Metrorrhagia, Neopl...	ORPHA:370348
Osteopetrosis With Renal Tubular Acidosis	Retrognathia, Osteopetrosis, Thick lower lip vermilion, Tooth malposition, High palate, Abnormali...	ORPHA:2785
Autosomal Recessive Malignant Osteopetrosis	Osteopetrosis, Reduced bone mineral density, Delayed eruption of teeth, Premature loss of primary...	ORPHA:667
Pheochromocytoma	Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ...	OMIM:171300
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Abnormal circulating interferon-gamma concentration, Anemia, Abnormal natural killer cell count, ...	ORPHA:79124
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Narrow palate, Supernumerary tooth, Dental crowding, Talon cusp, Carious teeth, Natal tooth, Hypo...	ORPHA:353281
Psoriasis 14, Pustular	Cholangitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Pustule, Neutro...	OMIM:614204
Porphyria, Acute Intermittent	Tachycardia, Reduced erythrocyte porphobilinogen deaminase activity, Hypertension	OMIM:176000
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Minimal chang...	OMIM:620565
Cockayne Syndrome B	Loss of facial adipose tissue, Mandibular prognathia, Limitation of joint mobility, Osteoporosis,...	OMIM:133540
Stickler Syndrome	Advanced eruption of teeth, Reduced bone mineral density, Short hard palate, Abnormal dental enam...	ORPHA:828
Congenital Factor V Deficiency	Metrorrhagia, Menorrhagia, Gingival bleeding	ORPHA:326
Burkitt Lymphoma	Neoplasm of the oral cavity, Abnormality of the ovary	ORPHA:543
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia, D...	OMIM:300952
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, High palate, Narrow mouth, Cleft mandible, Micrognathia, Pierre-Robin...	OMIM:268305
Tuberous Sclerosis 1	Dental enamel pits, Shagreen patch, Gingival fibromatosis	OMIM:191100
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Primary ameno...	OMIM:146255
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Conical incisor, Aplasia of the parotid gland, Microdontia, Carious teet...	OMIM:149730
Ethylene Glycol Poisoning	Congestive heart failure, Prolonged QT interval, Gastritis, Atrial fibrillation, Hypertension, Hy...	ORPHA:31826
Doors Syndrome	Narrow palate, Widely spaced teeth, Thick lower lip vermilion, Broad alveolar ridges, Short lingu...	ORPHA:79500
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval	ORPHA:542306
Pituitary Apoplexy	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul...	ORPHA:95613
Limb-Mammary Syndrome	Cleft hard palate, Chronic irritative conjunctivitis, Breast aplasia, Aplasia of the uterus, Hypo...	ORPHA:69085
Carney Triad	Gastrointestinal hemorrhage, Anemia, Hypertension, Arrhythmia, Tachycardia	ORPHA:139411
Autosomal Dominant Kenny-Caffey Syndrome	Calvarial osteosclerosis, Decreased skull ossification, Cortical thickening of long bone diaphyse...	ORPHA:93325
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Diaphyseal cortical sclerosis, Osteopenia, Fractures of the long bones, Patchy osteosclerosis, Os...	OMIM:112250
Leukocyte Adhesion Deficiency, Type Iii	Anemia, Leukocytosis, Epistaxis, Hepatosplenomegaly, Splenomegaly, Recurrent skin infections, Ext...	OMIM:612840
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	OMIM:229700
Bardet-Biedl Syndrome 1	High, narrow palate, Dental crowding, High palate, Abnormality of the ovary, Nephrogenic diabetes...	OMIM:209900
Porphyria Variegata	Tachycardia, Hypertension, Anemia	ORPHA:79473
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Inguinal hernia, Delayed eruption of teeth, Oligodontia, Omphalo...	OMIM:305600
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Bradycardia, Megaloblastic anemia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, ...	OMIM:277400
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia	ORPHA:263455
Hemophilia B	Menometrorrhagia	ORPHA:98879
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Dental crowding, Agenesis of permanent teeth, Wide mouth, Joint hypermobility, Inguinal hernia, E...	OMIM:619503
Systemic Capillary Leak Syndrome	Myocarditis, Pancreatitis, Hypotension, Leukocytosis, Pericarditis, Arrhythmia	ORPHA:188
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr...	ORPHA:980
Wilson Disease	Acute hepatitis, Arthritis, Hepatitis, Abnormality of the menstrual cycle	ORPHA:905
Autoimmune Hypoparathyroidism	Increased bone mineral density	ORPHA:36913
Arboleda-Tham Syndrome	Short philtrum, Peg-shaped maxillary lateral incisors, Mandibular prognathia, Narrow mouth, Downt...	OMIM:616268
Double Outlet Right Ventricle	Pulmonic stenosis, Tachycardia, Heart murmur	ORPHA:3426
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Splenomegaly, Intraalveolar phospholipid accumulation, Leuk...	OMIM:618042
Cholera	Tachycardia, Hypovolemic shock, Hypotension, Aspiration pneumonia	ORPHA:173
Singleton-Merten Syndrome 1	Osteopenia, Osteolytic defects of the phalanges of the hand, Hypoplasia of the tooth germ, Erupti...	OMIM:182250
Klippel-Trénaunay Syndrome	Abnormality of the menstrual cycle	ORPHA:90308
Holoprosencephaly 9	Agenesis of incisor, Thick lower lip vermilion, Solitary median maxillary central incisor, Short ...	OMIM:610829
H Syndrome	Delayed puberty, Azoospermia, Gingival overgrowth, Chronic rhinitis, Decreased testicular size, C...	ORPHA:168569
Cardiomyopathy, Familial Hypertrophic, 4	Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, R...	OMIM:115197
Serotonin Syndrome	Tachycardia, Hypertension, Hypotension	ORPHA:43116
Renal Nutcracker Syndrome	Syncope, Anemia, Orthostatic hypotension, Tachycardia	ORPHA:71273
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Hypertension, Recurrent sinusitis, Leukopenia, Splenomegaly, Lymphopenia, Erythema nod...	OMIM:615688
Cogan Syndrome	Large vessel vasculitis, Anemia, Aortic regurgitation, Thrombocytosis, Inflammatory abnormality o...	ORPHA:1467
Plague	Hematemesis, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia, Erythema...	ORPHA:707
Adult-Onset Still Disease	Myocarditis, Anemia, Elevated circulating C-reactive protein concentration, Arthritis, Skin rash,...	ORPHA:829
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Oligomenorrhea, Polycystic ovaries, Dysmenorrhea, Irregular menstruation	ORPHA:79240
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis	OMIM:615085
Cardiac Diverticulum	Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,...	ORPHA:1686
Combined Pituitary Hormone Deficiencies, Genetic Forms	Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s...	ORPHA:95494
Peters-Plus Syndrome	Thin vermilion border, Limited elbow movement, Widely spaced teeth, Craniosynostosis, Conical inc...	OMIM:261540
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Elevated circulating creatine kinase concentration, Premature ventricular contraction	OMIM:617072
Turnpenny-Fry Syndrome	Hypoplasia of the primary teeth, Widely spaced teeth, Dental crowding, Mandibular prognathia, Hig...	OMIM:618371
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Anemia, Hypoproteinemia, Cardiomyopathy, Elevated circulating creatine ...	OMIM:615895
Oligoarticular Juvenile Idiopathic Arthritis	Increased circulating interferon-gamma concentration, Knee osteoarthritis, Arthritis, Rheumatoid ...	ORPHA:85410
Pituitary Adenoma 4, Acth-Secreting	Oligomenorrhea, Pituitary adenoma, Increased circulating ACTH level	OMIM:219090
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Delayed puberty, Pancreatitis, Periodontitis, Thyroiditis, Oral ulcer, Gingivitis, Hypothyroidism...	ORPHA:79259
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Congestive heart failure, Liver abscess, Anemia, Acute colitis, Leukocytosis, Hypoa...	ORPHA:67
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul...	ORPHA:70591
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Narrow palate, Supernumerary tooth, Dental crowding, High palate, Talon cusp, Corneal scarring, C...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Narrow palate, Supernumerary tooth, Dental crowding, High palate, Talon cusp, Corneal scarring, C...	ORPHA:353277
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Hypertension, Retinal hemorrhage, Bradycardia	OMIM:614653
Hermansky-Pudlak Syndrome 5	Metrorrhagia, Menorrhagia	OMIM:614074
Bloom Syndrome	Azoospermia, Malar rash, Cryptorchidism, Malar flattening, Type II diabetes mellitus, Bronchiecta...	OMIM:210900
Atypical Werner Syndrome	Neoplasm of the oral cavity, Thin vermilion border, Lipoatrophy, Generalized lipodystrophy, Reduc...	ORPHA:79474
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Ventricular tachycardia, Dilated cardiomyopathy, Congestive heart failure	OMIM:605676
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology	ORPHA:79430
Alstrom Syndrome	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Chronic active hepatitis...	OMIM:203800
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Tachycardia, Hypertension, Orthostatic hypotension	OMIM:223900
Proximal Renal Tubular Acidosis	Reduced bone mineral density, Enamel hypomineralization	ORPHA:47159
Gitelman Syndrome	Prolonged QT interval, Hypotension, Increased circulating renin level, Ventricular tachycardia, P...	OMIM:263800
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	ORPHA:348
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Supraventricular arrhythmia, Elevated circulating creatine kinase concentration, Ventricular esca...	ORPHA:98855
Somatomammotropinoma	Thick lower lip vermilion, Widely spaced teeth, Anterior hypopituitarism, Broad jaw, Mandibular p...	ORPHA:314769
Emery-Dreifuss Muscular Dystrophy	Supraventricular arrhythmia, Elevated circulating creatine kinase concentration, Hypertrophic car...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Supraventricular arrhythmia, Elevated circulating creatine kinase concentration, Hypertrophic car...	ORPHA:98853
Gaucher Disease	Osteopenia, Increased bone mineral density, Abnormal bone structure, Gingival bleeding, Joint sti...	ORPHA:355
Mirizzi Syndrome	Tachycardia, Pancreatitis	ORPHA:521219
Williams Syndrome	Everted lower lip vermilion, Microdontia, Joint stiffness, Wide mouth, Umbilical hernia, Long phi...	ORPHA:904
Familial Dysautonomia	Tachycardia, Hypertension, Orthostatic hypotension	ORPHA:1764
Brucellosis	Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Increased circu...	ORPHA:1304
Familial Mediterranean Fever	Elevated circulating C-reactive protein concentration, Crohn's disease, Arthritis, Leukocytosis, ...	OMIM:249100
Aregenerative Anemia	Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni...	ORPHA:101096
Poems Syndrome	Sclerosis of skull base, Sclerosis of hand bone, Sclerosis of foot bone, Lipodystrophy	ORPHA:2905
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Supernumerary tooth, Advanced eruption of teeth, Abnormal dental...	ORPHA:818
X-Linked Emery-Dreifuss Muscular Dystrophy	Supraventricular arrhythmia, Elevated circulating creatine kinase concentration, Hypertrophic car...	ORPHA:98863
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Elevated circulating C-reactive protein concentration, Myositis, Vasculitis, Skin rash, Arthritis...	ORPHA:32960
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Pulmonic stenosis, Paroxysmal supraventricular tachycardia, Arrhythmia	OMIM:617877
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated circulating creatine kinase concentration, Arrhythmia, Ventricular bigeminy, Left bundle...	OMIM:610131
Cushing Disease	Increased circulating ACTH level, Recurrent cutaneous fungal infections, Secondary amenorrhea, In...	ORPHA:96253
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis	OMIM:618541
Multiple Endocrine Neoplasia Type 1	Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone ...	ORPHA:652
Tetrasomy 9P	Amelogenesis imperfecta, Abnormal number of permanent teeth, Short philtrum, Dental crowding, Abn...	ORPHA:3310
Tatton-Brown-Rahman Syndrome	Supraventricular tachycardia with an accessory connection mediated pathway, Mitral regurgitation,...	ORPHA:404443
Tafro Syndrome	Anemia, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protei...	ORPHA:457077
Meningioma	Enlarged pituitary gland, Reduced circulating prolactin concentration, Decreased circulating ACTH...	ORPHA:2495
Hereditary Chronic Pancreatitis	Leukocytosis, Elevated circulating C-reactive protein concentration, Recurrent pancreatitis	ORPHA:676
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ...	OMIM:300908
Pyomyositis	Myositis, Recurrent cutaneous abscess formation, Leukocytosis, Sudden cardiac death	ORPHA:764
Yellow Fever	Hematemesis, Increased circulating interleukin 6 concentration, Reduced left ventricular ejection...	ORPHA:99829
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Retrognathia, Hyperinsulinemia, Secondary amenorrhea, Thyroiditis, Abnormality o...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Retrognathia, Hyperinsulinemia, Secondary amenorrhea, Thyroiditis, Abnormality o...	ORPHA:99228
Monosomy X	Delayed puberty, Retrognathia, Hyperinsulinemia, Secondary amenorrhea, Thyroiditis, Abnormality o...	ORPHA:99226
Ectodermal Dysplasia-Skin Fragility Syndrome	Scarring, Cheilitis, Abnormal tongue morphology, Abnormality of the dentition, Abnormal dental mo...	ORPHA:158668
Turner Syndrome	Delayed puberty, Retrognathia, Hyperinsulinemia, Secondary amenorrhea, Thyroiditis, Abnormality o...	ORPHA:881
22Q11.2 Deletion Syndrome	Short philtrum, Inguinal hernia, Abnormal dental enamel morphology, Arthritis, Narrow mouth, Abno...	ORPHA:567
Familial Adenomatous Polyposis	Supernumerary tooth, Lipoma, Eruption failure, Odontoma, Abnormality of the dentition, Abnormal c...	ORPHA:733
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Right ventricular dilatation, Right ventricular hypertrophy	OMIM:253700
Bardet-Biedl Syndrome	Retrognathia, Hypoplasia of penis, Hypoplasia of the ovary, Dental crowding, Abnormality of the e...	ORPHA:110
Acute Intermittent Porphyria	Tachycardia, Hypertension	ORPHA:79276
Sickle Cell Anemia	Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol...	ORPHA:232
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia, Ventricular arrhythmia	OMIM:620475
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Atrial septal defect, Dysplastic pulmonary valve, Tricuspid regurgi...	OMIM:612863
Sarcoidosis	Heart block, Keratoconjunctivitis sicca, Anemia, Abnormal cardiac ventricular function, Parotitis...	ORPHA:797
Saethre-Chotzen Syndrome	Narrow palate, Lambdoidal craniosynostosis, Cleft of chin, Hypoplasia of the maxilla, Coronal cra...	OMIM:101400
Chilton-Okur-Chung Neurodevelopmental Syndrome	Agenesis of incisor, Widely spaced teeth, Short philtrum, Mandibular prognathia, Ankyloglossia, M...	OMIM:619841
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Anemia, Increased circulating interleukin 6 concentration, Elevated circ...	OMIM:620376
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis	ORPHA:35687
Ogden Syndrome	Recurrent otitis media, Iron deficiency anemia, Supraventricular tachycardia, Premature ventricul...	OMIM:300855
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullary thyroid carcinoma, In...	ORPHA:99889
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Camptodactyly of 2nd-5th fingers, Delayed eruption of teeth, Ing...	OMIM:601803
Wiskott-Aldrich Syndrome	Chronic otitis media, Arthritis, Gingival bleeding, Hypoplasia of the thymus, Eczematoid dermatit...	ORPHA:906
Degcags Syndrome	Anemia, Iron deficiency anemia, Tachycardia, Pancytopenia, Abnormal spleen morphology, Pulmonary ...	OMIM:619488
Microphthalmia With Linear Skin Defects Syndrome	Congenital diaphragmatic hernia, Retrognathia, Abnormal dental enamel morphology, Mandibular apla...	ORPHA:2556
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Pancreatitis, Supraventricular ar...	ORPHA:280365
Lymphatic Filariasis	Knee osteoarthritis, Lymphadenitis, Hydrocele testis, Abnormal scrotum morphology, Orchitis, Epid...	ORPHA:2035
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Kawasaki Disease	Myocarditis, Congestive heart failure, Cheilitis, Elevated circulating C-reactive protein concent...	ORPHA:2331
Gaucher Disease Type 3	Increased bone mineral density, Osteolysis, Increased susceptibility to fractures	ORPHA:77261
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Thickened cortex of long bones	OMIM:127000
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation	ORPHA:369847
Leukocyte Adhesion Deficiency	Perianal abscess, Chronic oral candidiasis, Vaginitis, Severe periodontitis, Recurrent aphthous s...	ORPHA:2968
Schinzel-Giedion Midface Retraction Syndrome	Malar flattening, Thickened cortex of long bones, Sclerosis of skull base, Increased density of l...	OMIM:269150
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density	OMIM:259900
Familial Mediterranean Fever	Pancreatitis, Arthritis, Skin rash, Pericarditis, Erysipelas, Orchitis, Osteoarthritis, Peritonit...	ORPHA:342
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Abnormality of the sphenoid sin...	ORPHA:449563
Proteus Syndrome	Abnormal subcutaneous fat tissue distribution, Cranial hyperostosis, Lipoma, Hyperostosis, Abnorm...	ORPHA:744
45,X/46,Xy Mixed Gonadal Dysgenesis	Tachycardia, Recurrent otitis media, Prolonged QT interval	ORPHA:1772
Immunoglobulin A Vasculitis	Arthritis, Skin rash, Episcleritis, Pustule, Orchitis, Infectious encephalitis	ORPHA:761
Autosomal Dominant Progressive External Ophthalmoplegia	Reduced left ventricular ejection fraction, Atrial fibrillation, Elevated circulating creatine ki...	ORPHA:254892
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Increased bone mineral density, Coarse metaphyseal trabecularization, Thickened cortex of long bones	OMIM:620558
Behçet Disease	Pancreatitis, Recurrent aphthous stomatitis, Myositis, Optic neuritis, Arthritis, Oral ulcer, Inc...	ORPHA:117
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cheilitis, Inguinal hernia, Abnormal dental enamel morphology, Omphalocele, Camptodactyly of finger	ORPHA:2273
African Trypanosomiasis	Myocarditis, Abnormality of renin-angiotensin system, Iritis, Myelitis, Abnormality of the endocr...	ORPHA:3385
Developmental And Epileptic Encephalopathy 111	Sinus tachycardia, Hypertension, Premature ventricular contraction	OMIM:620504
Truncus Arteriosus	Aortic regurgitation, Hypoplasia of the thymus, Pulmonic stenosis, Abnormal heart valve physiolog...	ORPHA:3384
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology	OMIM:612301
Marfan Syndrome	Congestive heart failure, Aortic regurgitation, Arthralgia/arthritis, Mitral regurgitation, Ventr...	ORPHA:558
Postinfectious Vasculitis	Gastrointestinal inflammation, Bacterial endocarditis, Arthritis, Viral hepatitis, Inflammatory a...	ORPHA:48435
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Aortic regurgitation, Tricuspid regurgitation, Premature ventricular co...	OMIM:620066
Scalp-Ear-Nipple Syndrome	Congestive heart failure, Hypertension, Pyelonephritis, Supraventricular tachycardia	OMIM:181270
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Cholecystitis	ORPHA:69665
Branchiooculofacial Syndrome	Elbow flexion contracture, Abnormality of the dentition, Cleft of chin, Cleft upper lip, Microgna...	OMIM:113620
Cardiac-Urogenital Syndrome	Tachycardia, Accessory spleen	OMIM:618280
Legius Syndrome	Pulmonic stenosis, Paroxysmal atrial tachycardia, Acute monocytic leukemia	ORPHA:137605
Steinert Myotonic Dystrophy	Left ventricular systolic dysfunction, Atrial fibrillation, Supraventricular tachycardia, Cardiac...	ORPHA:273
Alg9-Cdg	Atrial septal defect, Abnormal left ventricular outflow tract morphology, Tricuspid regurgitation...	ORPHA:79328
Microphthalmia, Syndromic 1	Orofacial cleft, High, narrow palate, Tooth malposition, Dental crowding, High palate, Camptodact...	OMIM:309800
Johanson-Blizzard Syndrome	Hypoplasia of the primary teeth, Downturned corners of mouth, Long philtrum, Joint hypermobility,...	OMIM:243800
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	OMIM:309801
Congenital Total Pulmonary Venous Return Anomaly	Low-output congestive heart failure, Pulmonary arterial hypertension, Tricuspid regurgitation, Ri...	ORPHA:99125
Marshall-Smith Syndrome	Hypertension, Aspiration pneumonia, Premature ventricular contraction, Pulmonary arterial hyperte...	OMIM:602535
Holt-Oram Syndrome	Tricuspid regurgitation, Pulmonary arterial hypertension, Pulmonic stenosis, Left ventricular non...	OMIM:142900
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Bradycardia, Tricuspid regurgitation, Pulmonary arterial hypertension, R...	OMIM:614437
Viss Syndrome	Atrial septal defect, Epidural hemorrhage, Patent foramen ovale, Coronary sinus enlargement, Pulm...	OMIM:619472

Histopathology

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

There is no histopathology data for Grem2

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 Grem2.

No publications found that use IMPC mice or data for Grem2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Grem2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Grem2^em1(IMPC)Bay	Exon Deletion	Mice
Grem2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us