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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	2.93×10^-06
increased cardiac stroke volume	Grem2^em1(IMPC)Bay	HET	Early adult	5.19×10^-10
preweaning lethality, incomplete penetrance	Grem2^em1(IMPC)Bay	HOM	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

MicroCT E18.5

Embryo reconstruction

9 Images

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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 (1066 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		Microdontia, Taurodontia, Selective tooth agenesis	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	Cortical sclerosis, Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth	OMIM:125440
Dentin Dysplasia	Increased bone mineral density, Abnormality of dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Dentin Dysplasia, Type I	Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss...	OMIM:125400
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Regional Odontodysplasia	Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta...	ORPHA:83450
Amelogenesis Imperfecta, Type Ij	Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite	OMIM:617297
Amelogenesis Imperfecta	Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa...	ORPHA:88661
Trichodentoosseous Syndrome	Increased bone mineral density, Taurodontia, Microdontia, Widely spaced teeth	OMIM:190320
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op...	OMIM:125500
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta	OMIM:104530
Dentin Dysplasia, Type Ii	Abnormal dentin morphology, Pulp calcification, Dentinogenesis imperfecta limited to primary teeth	OMIM:125420
Dentinogenesis Imperfecta	Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Finger joint hypermobil...	ORPHA:49042
Amelogenesis Imperfecta, Type Ie	Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp...	OMIM:301200
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Amelogenesis imperfecta, Enamel hypomineralization, Hypomature dental enamel	OMIM:613211
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Amelogenesis Imperfecta, Type Iiib	Amelogenesis imperfecta, Enamel hypomineralization	OMIM:617607
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Trichodysplasia-Amelogenesis Imperfecta Syndrome	Amelogenesis imperfecta	ORPHA:79129
Otodental Dysplasia	Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age...	OMIM:166750
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Short philtrum, Osteoporosis, Delayed eruption of teeth	ORPHA:71267
Anonychia-Microcephaly Syndrome	Carious teeth, Abnormality of the dentition	ORPHA:1094
Amelogenesis Imperfecta, Type Iv	Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:104510
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ...	OMIM:616221
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,...	OMIM:204650
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Increase...	ORPHA:3352
Epidermolysis Bullosa, Junctional 1A, Intermediate	Camptodactyly of finger, Enamel hypoplasia, Hypodontia, Oral mucosal blisters, Carious teeth	OMIM:226650
Oligodontia	Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho...	ORPHA:99798
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Amelogenesis Imperfecta, Type If	Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta	OMIM:616270
Taurodontism	Taurodontia	OMIM:272700
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:603641
Pfeiffer-Palm-Teller Syndrome	Enamel hypoplasia, Joint stiffness	ORPHA:2871
Amelogenesis Imperfecta, Type Iiia	Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion	OMIM:130900
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta, Pathologic fracture, Abnormal cortical bone morphology, Limitation of ...	ORPHA:166277
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta	OMIM:605594
Osteogenesis Imperfecta, Type V	Dentinogenesis imperfecta, Recurrent fractures, Hyperextensibility of the finger joints, Joint hy...	OMIM:610967
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology	ORPHA:3196
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteo...	ORPHA:3416
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio...	OMIM:204700
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Epidermolysis Bullosa, Junctional 4, Intermediate	Dental enamel pits, Carious teeth, Scarring alopecia of scalp	OMIM:619787
Trichodental Dysplasia	Conical tooth, Hypodontia, Odontodysplasia	OMIM:601453
Flynn-Aird Syndrome	Increased bone density with cystic changes, Increased bone mineral density, Carious teeth, Joint ...	OMIM:136300
Florid Cemento-Osseous Dysplasia	Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel...	ORPHA:83451
Heimler Syndrome 1	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:234580
Osteogenesis Imperfecta, Type Xii	Dentinogenesis imperfecta, High palate, Recurrent fractures, Hyperextensibility of the finger joi...	OMIM:613849
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta, Recurrent fractures, Joint hypermobility, Multiple prenatal fractures,...	OMIM:301014
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Broad jaw, Craniosynostosis	ORPHA:178377
Osteogenesis Imperfecta, Type Xxii	Thin bony cortex, Dentinogenesis imperfecta, Recurrent fractures, Multiple prenatal fractures, Re...	OMIM:619795
Primary Condylar Hyperplasia	Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Macrodontia, Abno...	ORPHA:477781
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel...	OMIM:618386
Osteogenesis Imperfecta, Type Ix	Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurrent fractures, Multip...	OMIM:259440
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized ...	ORPHA:2790
Otodental Syndrome	Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul...	ORPHA:2791
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta	Increased susceptibility to fractures, Dentinogenesis imperfecta, Hyperostosis, Limited elbow ext...	OMIM:604922
Endometriosis, Susceptibility To, 1	Decreased fertility, Dysmenorrhea, Endometriosis	OMIM:131200
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Carious teeth, Flexion contracture, Generalized hypoplasia of dental enamel	OMIM:203550
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Thickened cortex...	OMIM:144750
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Retrognathia, Enamel hypoplasia, High palate	OMIM:617915
Stimmler Syndrome	Microdontia, Abnormal dental enamel morphology	ORPHA:3199
Intermediate Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Atrophic scars, Oral mucosal blisters, Scarring alopecia of scalp	ORPHA:79402
Hall-Riggs Mental Retardation Syndrome	Enamel hypoplasia, Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, U-Shape...	OMIM:234250
17Q11.2 Microduplication Syndrome	Enamel hypoplasia, Malar flattening, Thin vermilion border, Abnormal dental enamel morphology	ORPHA:139474
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Enamel hypoplasia, Atrophic scars	OMIM:226700
Osteopetrosis, Autosomal Dominant 1	Mandibular pain, Calvarial osteosclerosis, Generalized osteosclerosis, Torus palatinus, Thickened...	OMIM:607634
Cleft Palate, Isolated	Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion	OMIM:119540
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition	Widely-spaced incisors, Oligodontia, Discolored lateral incisors, Joint contracture of the 5th fi...	OMIM:601668
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Osteoporosis, Delayed eruption of teeth	OMIM:612463
Cole-Carpenter Syndrome 1	Dentinogenesis imperfecta, Recurrent fractures, Coronal craniosynostosis, Micrognathia, Microdont...	OMIM:112240
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Enamel hypoplasia, Mandibular prognathia, Hip contracture, Advanced ossification of carpal bones,...	OMIM:618363
Ectodermal Dysplasia-Syndactyly Syndrome 2	Enamel hypoplasia, Thin upper lip vermilion	OMIM:613576
Familial Hyperprolactinemia	Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea	ORPHA:397685
Invasive Mole	Menometrorrhagia	ORPHA:99925
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Carious teeth, Enamel hypoplasia, Thick vermilion border	ORPHA:363523
Trimethylaminuria	Anemia, Splenomegaly, Hypertension, Recurrent pneumonia, Neutropenia, Tachycardia	OMIM:602079
Kohlschutter-Tonz Syndrome	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Agenesis of lateral incisor, Selective tooth agenesis, Hypodontia, Anodon...	OMIM:313500
His Bundle Tachycardia	Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Enamel hypoplasia, Scarring alopecia of scalp, Limb joint contracture, Atypic...	ORPHA:251393
Atkin-Flaitz Syndrome	Everted lower lip vermilion, Abnormality of the dentition, Maxillary lateral incisor microdontia,...	ORPHA:1193
Gnathodiaphyseal Dysplasia	Broad jaw, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia	ORPHA:53697
Odontochondrodysplasia	Retrognathia, Dentinogenesis imperfecta, Joint hyperflexibility, Delayed eruption of teeth	ORPHA:166272
Cranioectodermal Dysplasia	Microdontia, Hypodontia, Taurodontia, Everted lower lip vermilion, Joint hyperflexibility, Abnorm...	ORPHA:1515
Asherman Syndrome	Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c...	ORPHA:137686
Intermediate Osteopetrosis	Increased susceptibility to fractures, Dental malocclusion, Osteomyelitis, Recurrent fractures, A...	ORPHA:210110
Cleft Lip/Palate	Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat...	ORPHA:199306
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Osteogenesis Imperfecta, Type Xi	Increased susceptibility to fractures, Dentinogenesis imperfecta, Joint laxity, Osteopenia, Abnor...	OMIM:610968
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Primary amenorrhea, Microphallus, Decreased testicular size, Absence of pubertal development, Cry...	OMIM:614840
Brugada Syndrome	Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven...	ORPHA:130
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2027
Junctional Epidermolysis Bullosa Inversa	Enamel hypoplasia, Keloids, Atrophic scars, Oral mucosal blisters, Carious teeth	ORPHA:79405
Pyle Disease	Thin bony cortex, Mandibular prognathia, Hypoplastic frontal sinuses, Delayed eruption of teeth, ...	OMIM:265900
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Premature loss of primary teeth, Abnormality of dental morphology, Hypoplasia of teeth	ORPHA:248
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst...	OMIM:604772
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,...	OMIM:614021
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis, Abnormality of the dentition	OMIM:615269
Sclerosteosis	Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology	ORPHA:3152
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Delayed puberty, Primary amenorrhea, Abnorma...	OMIM:300604
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Alveolar process hypoplasia, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphol...	ORPHA:2972
Intellectual Disability, Birk-Barel Type	Incisor macrodontia, Congenital finger flexion contractures, Foot joint contracture, Micrognathia...	ORPHA:166108
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Cleft palate, Abnormal mandible morphology, Arthrogryposis multiplex congenita, Natal tooth	OMIM:217150
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Short philtrum, Tooth agenesis, Abnormal dental...	ORPHA:2325
Pilodental Dysplasia With Refractive Errors	Conical incisor, Hypodontia	OMIM:262020
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy	OMIM:107970
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Heimler Syndrome 2	Amelogenesis imperfecta, Dental crowding	OMIM:616617
48,Xyyy Syndrome	Enamel hypoplasia, High palate, Long philtrum, Thick lower lip vermilion, Radioulnar synostosis, ...	ORPHA:99329
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2222
Hyperprolactinemia	Female infertility, Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea	OMIM:615555
Osteogenesis Imperfecta, Type Iv	Increased susceptibility to fractures, Dentinogenesis imperfecta, Bowing of limbs due to multiple...	OMIM:166220
Osteogenesis Imperfecta, Type Iii	Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurrent fractures, Severe...	OMIM:259420
Late-Onset Junctional Epidermolysis Bullosa	Enamel hypoplasia, Keloids, Atrophic scars, Oral mucosal blisters, Carious teeth	ORPHA:79406
Ramon Syndrome	Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Osteolysis, Abnormal dental enam...	ORPHA:3019
Jalili Syndrome	Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology	ORPHA:1873
Hypophosphatasia, Adult	Increased susceptibility to fractures, Recurrent fractures, Osteomalacia, Premature loss of prima...	OMIM:146300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat...	OMIM:610476
Incessant Infant Ventricular Tachycardia	Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ...	ORPHA:45453
Clark-Baraitser syndrome	Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median tongue furrow, Join...	OMIM:300602
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Cardiomyopathy, Dilated, 2F	Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop...	OMIM:619747
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Downturned corners of mouth	ORPHA:2643
Intellectual Disability And Myopathy Syndrome	Incisor macrodontia, Dental malocclusion, Achilles tendon contracture, Thin upper lip vermilion, ...	OMIM:619719
Pili Torti	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:2889
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteoscleros...	OMIM:122860
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:607080
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Female infertility, Oocyte arrest at metaphase I, Polycystic ovaries, A...	ORPHA:488191
Ovarian Dysgenesis 7	Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea	OMIM:618117
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Enamel hypoplasia, Pulp calcification, Taurodontia, Hyperostosis, Subperiosteal bone formation	OMIM:211900
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Conical incisor, Enamel hypoplasia, Carious teeth	OMIM:614564
Lethal Recessive Chondrodysplasia	Micrognathia, Macroglossia, Generalized osteosclerosis	ORPHA:1423
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor	OMIM:620062
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ...	ORPHA:1028
Osteogenesis Imperfecta, Type Xiii	Dentinogenesis imperfecta, Recurrent fractures, Long philtrum, Increased bone mineral density, Jo...	OMIM:614856
Filippi Syndrome	Hypodontia, Microdontia, Abnormality of dental morphology, Short philtrum, Thin vermilion border,...	OMIM:272440
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Carious teeth, Enamel hypoplasia, Increased connective tissue, Scarring alopecia of scalp	OMIM:226670
Pycnodysostosis	Narrow palate, Delayed eruption of primary teeth, Increased bone mineral density, Micrognathia, H...	OMIM:265800
Isolated Osteopoikilosis	Tarsal sclerosis, Abnormal bone ossification, Keloids, Increased bone mineral density, Sclerosis ...	ORPHA:166119
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth	OMIM:161000
Dysosteosclerosis	Recurrent fractures, Delayed eruption of teeth, Increased bone mineral density, Coarse metaphysea...	ORPHA:1782
Liang-Wang Syndrome	Macrodontia of permanent maxillary central incisor, Wide mouth, Macroglossia, Diastema, Everted l...	OMIM:618729
Atkin-Flaitz Syndrome	Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median tongue furrow, Join...	OMIM:300431
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b...	ORPHA:1946
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Widely spaced teeth, Micrognathia, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Self-Improving Dystrophic Epidermolysis Bullosa	Carious teeth, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters	ORPHA:79411
Ectodermal Dysplasia/Short Stature Syndrome	Hypodontia, Enamel hypoplasia, Delayed eruption of teeth	OMIM:616029
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he...	OMIM:616117
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:757
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Mandibular osteomyelitis, Os...	OMIM:166600
Sjogren-Larsson Syndrome	Enamel hypoplasia, Flexion contracture	OMIM:270200
Cenani-Lenz Syndactyly Syndrome	Enamel hypoplasia, Micrognathia, Hypodontia, Radioulnar synostosis, Metacarpal synostosis, Malar ...	OMIM:212780
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia, Oligodontia of primary teeth, Agenesis of permanent molar	OMIM:604625
Cole-Carpenter Syndrome 2	Dentinogenesis imperfecta, High palate, Recurrent fractures, Coronal craniosynostosis, Microretro...	OMIM:616294
Premature Ovarian Failure 1	Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency	OMIM:311360
Buschke-Ollendorff Syndrome	Joint stiffness, Flexion contracture, Connective tissue nevi, Osteopoikilosis	OMIM:166700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Osteogenesis Imperfecta, Type I	Increased susceptibility to fractures, Dentinogenesis imperfecta, Recurrent fractures, Joint hype...	OMIM:166200
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Elevated circulating cre...	OMIM:615184
Premature Ovarian Failure 18	Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ...	OMIM:619203
Mulibrey Nanism	Dental malocclusion, Enamel hypoplasia, Hypoplastic frontal sinuses, Hypodontia, Thickened cortex...	OMIM:253250
Metaphyseal Chondrodysplasia, Spahr Type	Carious teeth, Abnormality of the dentition, Reduced bone mineral density	ORPHA:2501
Ovarian Dysgenesis 9	Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube...	OMIM:619665
Galloway-Mowat Syndrome 8	Enamel hypoplasia	OMIM:618349
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Rubinstein-Taybi Syndrome 2	Retrognathia, Dental malocclusion, Talon cusp, Narrow palate, High palate, Micrognathia, Carious ...	OMIM:613684
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre...	OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar...	OMIM:610193
Dental Anomalies And Short Stature	Mandibular prognathia, Widely spaced teeth, Microdontia, Oligodontia, Hypoplasia of the maxilla, ...	OMIM:601216
Distal Osteosclerosis	Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis	OMIM:126250
Premature Ovarian Failure 15	Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul...	OMIM:618096
Brittle Cornea Syndrome 1	Dentinogenesis imperfecta, Joint laxity, Atypical scarring of skin	OMIM:229200
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Hypophosphatemic rickets, Hypoplasia of teeth	OMIM:613312
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia	OMIM:611938
Anonychia With Flexural Pigmentation	Carious teeth	ORPHA:69125
Pili Torti, Early-Onset	Enamel hypoplasia	OMIM:261900
Splenogonadal Fusion With Limb Defects And Micrognathia	Micrognathia, Multiple unerupted teeth, Crowded maxillary incisors	OMIM:183300
Gordon Holmes Syndrome	Secondary amenorrhea, Oligomenorrhea, Absence of pubertal development, Primary amenorrhea, Hypogo...	OMIM:212840
Premature Ovarian Failure 19	Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:619245
Temtamy Preaxial Brachydactyly Syndrome	Talon cusp, Deep philtrum, Microdontia, Radioulnar synostosis, Carpal synostosis, Diastema, Cleft...	OMIM:605282
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Supernumerary tooth, Limitation of joint mobility, Carious teeth, Hypoplasia of the...	ORPHA:3145
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Failure Of Tooth Eruption, Primary	Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth	OMIM:125350
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Odontochondrodysplasia 1	Dentinogenesis imperfecta, Long philtrum, Delayed eruption of teeth, Delayed ossification of carp...	OMIM:184260
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Gigantiform Cementoma, Familial	Multiple impacted teeth, Cementoma, Tooth malposition	OMIM:137575
Intellectual Developmental Disorder, Autosomal Dominant 21	Incisor macrodontia, Long philtrum, Narrow mouth, Thin vermilion border, Cleft palate	OMIM:615502
Cardiomyopathy, Dilated, 1E	Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti...	OMIM:601154
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac...	OMIM:614916
46,Xy Sex Reversal 11	Urogenital sinus anomaly, Abnormal internal genitalia, Decreased serum testosterone concentration...	OMIM:273250
X-Linked Hypophosphatemia	Vertebral hyperostosis, Cellulitis, Enthesitis, Arthritis, Abnormal dentin morphology, Limitation...	ORPHA:89936
Seckel Syndrome 5	Retrognathia, Enamel hypoplasia, High palate, Selective tooth agenesis, Micrognathia, Hypodontia,...	OMIM:613823
Acute Peripheral Arterial Occlusion	Supraventricular tachycardia, Myocardial infarction, Abnormality of venous physiology, Leukocytos...	ORPHA:90064
Congenital Disorder Of Glycosylation, Type Iik	Osteoporosis, Malar flattening, Joint laxity, Amelogenesis imperfecta	OMIM:614727
Cardiomyopathy, Dilated, 2G	Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti...	OMIM:619897
Catecholaminergic Polymorphic Ventricular Tachycardia	Sudden cardiac death, Ventricular tachycardia, Syncope	ORPHA:3286
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co...	ORPHA:280356
Ectodermal Dysplasia-Syndactyly Syndrome 1	Conical tooth, Enamel hypoplasia, Widely spaced teeth	OMIM:613573
Gestational Choriocarcinoma	Metrorrhagia	ORPHA:99926
Ovarian Dysgenesis 10	Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated cir...	OMIM:619834
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea	OMIM:233300
Perrault Syndrome 6	Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea...	OMIM:617565
Nance-Horan Syndrome	Supernumerary maxillary incisor, Screwdriver-shaped incisors, Mulberry molar, Diastema	OMIM:302350
Lowry-Maclean Syndrome	Cleft palate, Craniosynostosis, Delayed eruption of teeth	OMIM:600252
Ovarian Dysgenesis 2	Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon...	OMIM:300510
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea	OMIM:184700
Ovarian Fibrothecoma	Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra...	ORPHA:314478
Cardiomyopathy, Familial Hypertrophic, 12	Sudden cardiac death, Reduced left ventricular endsystolic diameter, Hypertrophic cardiomyopathy,...	OMIM:612124
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hypodontia, Delayed eruption of teeth, Joint hyperflexibility, Hip osteoarthritis	ORPHA:63442
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Carious teeth, Enamel hypoplasia, Scarring alopecia of scalp	OMIM:612843
Craniosynostosis 3	Left unicoronal synostosis, Sagittal craniosynostosis, Dental malocclusion, Right unicoronal syno...	OMIM:615314
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ...	OMIM:611528
Placental Site Trophoblastic Tumor	Metrorrhagia, Amenorrhea	ORPHA:99928
Leptin Deficiency Or Dysfunction	Hypogonadism, Decreased testicular size, Decreased serum leptin, Recurrent pneumonia, Primary ame...	OMIM:614962
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Recurrent fractures, Decreased osteoclast count, Diaphyseal...	OMIM:259710
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Arthritis, Generalized osteosclerosis, Mandibular osteomyelit...	ORPHA:53
Cardiomyopathy, Dilated, 1G	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre...	OMIM:604145
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome	Increased size of the clitoris, Mandibular condyle hypoplasia, Hypoplasia of the premaxilla, Ambi...	ORPHA:2975
Snijders Blok-Campeau Syndrome	Enamel hypoplasia, High palate, Widely spaced teeth, Taurodontia, Joint laxity, Inguinal hernia, ...	OMIM:618205
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy	OMIM:609909
Premature Ovarian Failure 5	Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo...	OMIM:611548
Premature Ovarian Failure 13	Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen...	OMIM:617442
Chondrodysplasia, Blomstrand Type	Advanced ossification of carpal bones, Micrognathia, Generalized osteosclerosis, Advanced tarsal ...	OMIM:215045
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Microdontia, Supernumerary tooth, Diastema, Joint hypermobility, Agenesis of molar, Osteopenia, B...	OMIM:619718
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Retrognathia, Dentinogenesis imperfecta, Periodontitis, Delayed eruption of permanent teeth, Oste...	OMIM:619269
Naegeli-Franceschetti-Jadassohn Syndrome	Enamel hypoplasia, Yellow-brown discoloration of the teeth, Abnormality of dental morphology, Sup...	ORPHA:69087
Cardiomyopathy, Familial Hypertrophic, 16	Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Asymmetric septal hype...	OMIM:613838
Ventricular Fibrillation, Paroxysmal Familial, 1	Syncope, Tachycardia, Ventricular fibrillation	OMIM:603829
Premature Ovarian Failure 8	Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula...	OMIM:615723
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Flexion contracture, Camptodactyly, Osteolysis involving bones of the upper limbs, Osteolysis inv...	ORPHA:88630
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Hypothyroidism, Congenital, Nongoitrous, 8	Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu...	OMIM:301033
Ovarian Dysgenesis 6	Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar...	OMIM:618078
Premature Ovarian Failure 7	Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l...	OMIM:612964
Qazi-Markouizos Syndrome	High, narrow palate, Delayed ossification of carpal bones, Open mouth, Hypoplasia of teeth, Broad...	ORPHA:3010
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Osteopenia, Abnormality of the dentition	OMIM:615266
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Carious teeth, Abnormal palate morphology, Radioulnar synostosis, Abnormality of the dentition	ORPHA:3270
Temtamy Preaxial Brachydactyly Syndrome	Proximal symphalangism of hands, Talon cusp, Synostosis of carpals/tarsals, Tooth malposition, Mi...	ORPHA:363417
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:245660
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Cardiomyopathy, Supraventricular tachycardia, Elevated circulating creatine kinase concentration	OMIM:255100
Orofaciodigital Syndrome Type 5	Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p...	ORPHA:2919
Brugada Syndrome 1	Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc...	OMIM:601144
Atrial Fibrillation, Familial, 15	Sudden cardiac death, Atrial flutter, Supraventricular tachycardia, Atrial fibrillation	OMIM:615770
Otopalatodigital Syndrome Type 1	Hypoplastic frontal sinuses, Increased bone mineral density, Synostosis of carpal bones, Oligodon...	ORPHA:90650
Long Qt Syndrome 13	Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e...	OMIM:613485
Long Qt Syndrome 3	Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ...	OMIM:603830
Braddock-Carey Syndrome 1	Enamel hypoplasia, Pierre-Robin sequence, Camptodactyly, Everted lower lip vermilion, U-Shaped up...	OMIM:619980
Pycnodysostosis	Increased susceptibility to fractures, Dental malocclusion, Obtuse angle of mandible, Enamel hypo...	ORPHA:763
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Primary amenorrhea, Decreased testicular size, Infertility, Cryptorchidism, Hypogonadotropic hypo...	OMIM:146110
Ameloonychohypohidrotic Syndrome	Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Yellow-brown dis...	OMIM:104570
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Thick lower lip vermilion, Taurodontia, Radioulnar synostos...	ORPHA:10
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Micrognathia, Deep philtrum	ORPHA:1237
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Abnormal spermatogenesis, Testicular microlithiasis, Secondary amenorrhea, Decreased circulating ...	OMIM:228300
Ovarian Dysgenesis 5	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El...	OMIM:617690
Pseudohermaphroditism, Female, With Skeletal Anomalies	Ambiguous genitalia, Short mandibular condyles, Hypoplasia of the maxilla, Primary amenorrhea, Cl...	OMIM:264270
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Uterus didelphys, Metrorrhagia, Partial vaginal septum, Dyspareunia, Abnormal uterine cervix morp...	ORPHA:3411
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost...	OMIM:614841
Premature Ovarian Failure 9	Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon...	OMIM:615724
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Gingival Fibromatosis-Facial Dysmorphism Syndrome	High palate, Delayed eruption of teeth, Abnormality of dental morphology, Gingival fibromatosis, ...	ORPHA:2025
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Osteogenesis Imperfecta, Type Viii	Dentinogenesis imperfecta, Recurrent fractures, Joint laxity, Inguinal hernia, Multiple prenatal ...	OMIM:610915
Premature Ovarian Failure 6	Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f...	OMIM:612310
Hypodontia-Dysplasia Of Nails Syndrome	Conical tooth, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Agenesis ...	ORPHA:2228
Pseudohypoparathyroidism, Type Ia	Enamel hypoplasia, Osteoporosis, Subcutaneous ossification, Delayed eruption of teeth	OMIM:103580
46,Xy Sex Reversal 1	Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse...	OMIM:400044
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,...	OMIM:608758
Xp22.3 Microdeletion Syndrome	Decreased fertility, Hypogonadotropic hypogonadism, Polycystic ovaries, Secondary amenorrhea	ORPHA:1643
Atrial Standstill	Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric...	ORPHA:1344
Ventricular Tachycardia, Familial	Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy	OMIM:192605
Perrault Syndrome 4	Primary amenorrhea, Decreased serum estradiol, Secondary amenorrhea, Premature ovarian insufficie...	OMIM:615300
Hyperostosis Frontalis Interna	Irregular menstruation, Diabetes mellitus, Increased circulating prolactin concentration	OMIM:144800
Cockayne Syndrome Type 2	Enamel hypoplasia, Flexion contracture, Mandibular prognathia, Delayed eruption of primary teeth,...	ORPHA:90322
Hypogonadotropic Hypogonadism 25 With Anosmia	Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici...	OMIM:618841
Dysostosis, Stanescu Type	Massively thickened long bone cortices, Increased bone mineral density, Macroglossia, Hypoplasia ...	ORPHA:1798
Trichothiodystrophy 9, Nonphotosensitive	Dental malocclusion, High, narrow palate, Joint laxity	OMIM:619692
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Ulcerative colitis, Elevated circulating C-reactive protein concentration, Leukocytosis	OMIM:619398
Ovarian Dysgenesis 4	Elevated circulating follicle stimulating hormone level, Decreased serum estradiol, Primary ameno...	OMIM:616185
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Tularemia	Conjunctivitis, Anemia, Brain abscess, Erythema nodosum, Increased circulating antibody level, Sk...	ORPHA:3392
Perrault Syndrome 5	High palate, Hypergonadotropic hypogonadism, Gonadal dysgenesis, Primary amenorrhea	OMIM:616138
Premature Ovarian Failure 3	Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea	OMIM:608996
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car...	OMIM:608569
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Enamel hypoplasia, Recurrent fractures, Delayed eruption of teeth, Sparse bone ...	OMIM:277440
Pseudohypoparathyroidism, Type Ic	Enamel hypoplasia, Osteoporosis, Delayed eruption of teeth	OMIM:612462
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Enamel hypoplasia, Atrophic scars, Oral mucosal blisters, Arthrogryposis multiplex congenita	OMIM:226730
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Enamel hypoplasia, Tracheobronchomalacia, Pierre-Robin sequence, Hypodontia, Oligodontia, Dental ...	OMIM:619184
Cortisone Reductase Deficiency 1	Acne, Infertility, Precocious puberty, Oligomenorrhea	OMIM:604931
Long Qt Syndrome 15	Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib...	OMIM:616249
Congenital Heart Defects, Multiple Types, 3	Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At...	OMIM:614954
Cardiomyopathy, Familial Hypertrophic, 14	Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent...	OMIM:613251
Eem Syndrome	Selective tooth agenesis, Widely spaced teeth, Microdontia, Abnormality of dental morphology, Car...	ORPHA:1897
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Impacted Teeth, Multiple	Multiple impacted teeth, Supernumerary tooth	OMIM:308280
Melorheostosis With Osteopoikilosis	Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis	ORPHA:1879
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr...	OMIM:607450
Pituicytoma	Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t...	ORPHA:251623
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu...	OMIM:229070
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra...	OMIM:615441
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth	OMIM:615905
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card...	OMIM:600884
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility, Reduced circulating prolactin concentration	OMIM:264110
Premature Ovarian Failure 10	Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas...	OMIM:612885
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hypodontia, Oligodontia, Scarring alopecia of scalp, Abnormal dental enamel morphology	ORPHA:59303
Hypophosphatasia, Childhood	Carious teeth, Premature loss of primary teeth, Craniosynostosis	OMIM:241510
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Oculoskeletodental Syndrome	Retrognathia, Enamel hypoplasia, Microdontia, Oligodontia, Abnormality of the dentition	ORPHA:557003
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Enamel hypoplasia, Microdontia, Oligodontia, Scarring alopeci...	OMIM:618727
Van Der Woude Syndrome 2	Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate	OMIM:606713
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,...	ORPHA:168563
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure...	ORPHA:2795
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Open mouth, Macrodontia of permanent maxillary central incisor, Thick vermilion border	OMIM:620114
Atrial Standstill 1	Atrial standstill, Premature atrial contractions, Atrial cardiomyopathy, Ventricular escape rhyth...	OMIM:108770
Recessive Dystrophic Epidermolysis Bullosa Inversa	Carious teeth, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters	ORPHA:79409
Usher Syndrome Type 1	Abnormal dental enamel morphology	ORPHA:231169
Osteopetrosis, Autosomal Recessive 1	Osteomyelitis, Calvarial osteosclerosis, Osteopetrosis, Increased bone mineral density, Carious t...	OMIM:259700
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Osteoporosis, Carious teeth, Recurrent fractures	OMIM:126550
Lowry-Maclean Syndrome	Retrognathia, Talon cusp, Delayed eruption of primary teeth, High, narrow palate, Micrognathia, H...	ORPHA:2409
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s...	OMIM:616030
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Micrognathia, Osteopetrosis	OMIM:617306
Camurati-Engelmann Disease	Mandibular prognathia, Increased bone mineral density, Reduced subcutaneous adipose tissue, Corti...	OMIM:131300
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Osteopenia, Reduced bone mineral density	OMIM:619489
46,Xx Testicular Disorder Of Sex Development	Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size	ORPHA:393
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Thin bony cortex, Obtuse angle of mandible, High palate, Increased bone mineral density, Microgna...	ORPHA:85184
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle...	OMIM:618920
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum	Alveolar process hypoplasia, Eruption failure, Delayed eruption of primary teeth, Multiple non-er...	OMIM:273050
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Enamel hypoplasia, Recurrent fractures, Delayed eruption of teeth, Sparse bone ...	OMIM:264700
Osteogenesis Imperfecta, Type X	Thin bony cortex, Dentinogenesis imperfecta, Generalized joint laxity, Micrognathia, Joint laxity...	OMIM:613848
Oculodentodigital Dysplasia, Autosomal Recessive	Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary central incisor, Delayed e...	OMIM:257850
Sjögren-Larsson Syndrome	Joint stiffness, Abnormal dental enamel morphology	ORPHA:816
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Enamel hypoplasia, Keloids, Atrophic scars, Oral mucosal blisters, Carious teeth, Atypical scarri...	ORPHA:79410
Idiopathic Neonatal Atrial Flutter	Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma...	ORPHA:45452
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Delayed eruption of teeth	ORPHA:2238
Müllerian Aplasia And Hyperandrogenism	Increased serum testosterone level, Abnormality of the ovary, Short philtrum, Hypoplasia of the u...	ORPHA:247768
Premature Ovarian Failure 11	Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea	OMIM:616946
Maxillonasal Dysplasia, Binder Type	Dental malocclusion	OMIM:155050
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia	OMIM:614896
Cranioectodermal Dysplasia 4	Sagittal craniosynostosis, Taurodontia, Joint hypermobility, Smooth philtrum, Thin vermilion border	OMIM:614378
Bdv Syndrome	Primary amenorrhea, Central hypothyroidism, Decreased circulating follicle stimulating hormone co...	OMIM:619326
Isolated Follicle Stimulating Hormone Deficiency	Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,...	ORPHA:52901
Immunodeficiency 33	Conical tooth, Hypodontia, Delayed eruption of teeth	OMIM:300636
Cardiomyopathy, Familial Hypertrophic, 11	Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy...	OMIM:612098
Blepharophimosis-Impaired Intellectual Development Syndrome	Dental malocclusion, Enamel hypoplasia, Flexion contracture, Wide mouth, Widely spaced teeth, Mic...	OMIM:619293
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Enamel hypoplasia, Flexion contracture, Corneal scarring, Atrophic scars, Narrow mouth, Oral muco...	OMIM:226600
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased testicular size, Cryptorchidism, Primary amenorrhea	OMIM:614858
Bone Marrow Failure Syndrome 3	Enamel hypoplasia, Hernia, Micrognathia, Microdontia, Hypodontia, Joint hypermobility, Amelogenes...	OMIM:617052
Scarf Syndrome	Enamel hypoplasia, Long philtrum, Inguinal hernia, Joint hyperflexibility, Craniosynostosis, Hypo...	ORPHA:3134
Ohdo Syndrome	Long philtrum, Widely spaced teeth, Micrognathia, Joint laxity, Narrow mouth, Smooth philtrum, Th...	OMIM:249620
Developmental And Epileptic Encephalopathy 66	Macrodontia of permanent maxillary central incisor, Wide mouth, Widely spaced teeth, Everted lowe...	OMIM:618067
Long Qt Syndrome 2	Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched...	OMIM:613688
Aredyld Syndrome	Mandibular prognathia, Advanced eruption of teeth, Craniofacial hyperostosis, Narrow mouth, Smoot...	ORPHA:1133
Hypergonadotropic Hypogonadism-Cataract Syndrome	Decreased fertility, Absence of secondary sex characteristics, Increased circulating gonadotropin...	ORPHA:2410
Osteopathia Striata-Cranial Sclerosis Syndrome	Retrognathia, Delayed eruption of teeth, Increased bone mineral density, Micrognathia, Coarse met...	ORPHA:2780
Estrogen Resistance	Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,...	OMIM:615363
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Increased susceptibility to fractures, Enamel hypoplasia, Osteomalacia, Delayed...	ORPHA:289157
Atrial Septal Defect, Sinus Venosus Type	Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl...	ORPHA:99105
Wolff-Parkinson-White Syndrome	Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul...	OMIM:194200
Brachydactyly, Type E2	Oligodontia, Delayed eruption of teeth	OMIM:613382
Paroxysmal Extreme Pain Disorder	Bradycardia, Tachycardia	OMIM:167400
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Complete Androgen Insensitivity Syndrome	Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim...	ORPHA:99429
Jalili Syndrome	Enamel agenesis, Carious teeth, Yellow-brown discoloration of the teeth	OMIM:217080
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Abnormal palate morphology, Abnormal dental enamel morphology	ORPHA:3236
Momo Syndrome	Dental malocclusion, High palate, Long philtrum, Delayed eruption of teeth, Thick lower lip vermi...	OMIM:157980
Premature Ovarian Failure 12	Primary amenorrhea	OMIM:616947
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Increased circulating interleukin 6 concentration, Reduced left ventricular ejection...	ORPHA:542323
Buschke-Ollendorff Syndrome	Flexion contracture, Recurrent fractures, Connective tissue nevi, Arthritis, Osteopoikilosis, Gen...	ORPHA:1306
Craniolenticulosutural Dysplasia	High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Microdontia, Hypoplasia of the...	ORPHA:50814
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Sudden cardiac death, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, I...	OMIM:601493
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Taurodontia, Short philtrum, High, narrow palate, Macrodontia	ORPHA:3214
Dysosteosclerosis	Increased susceptibility to fractures, High palate, Natal tooth, Delayed eruption of teeth, Absen...	OMIM:224300
Long Qt Syndrome 6	Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong...	OMIM:613693
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, Osteopetrosis	OMIM:259730
Momo Syndrome	Thick upper lip vermilion, Dental malocclusion, Abnormal bone ossification, High palate, Long phi...	ORPHA:2563
Ovarian Dysgenesis 3	Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo...	OMIM:614324
Functioning Gonadotropic Adenoma	Impotence, Decreased female libido, Anterior hypopituitarism, Oligospermia, Increased circulating...	ORPHA:91348
Hypophosphatemic Rickets	Osteomalacia, Enthesitis, Craniofacial asymmetry, Odontodysplasia, Rickets, Craniofacial osteoscl...	ORPHA:437
Specific Granule Deficiency 2	Conical tooth, Amelogenesis imperfecta, Osteopenia, Tooth malposition	OMIM:617475
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Rapp-Hodgkin Syndrome	Conical tooth, Enamel hypoplasia, Cleft upper lip, Microdontia, Hypodontia, Bifid uvula, Taurodon...	OMIM:129400
Andersen Cardiodysrhythmic Periodic Paralysis	Enamel hypoplasia, High palate, Prominent frontal sinuses, Micrognathia, Oligodontia, Dental crow...	OMIM:170390
Peripartum Cardiomyopathy	Pulmonary arterial hypertension, Abnormal T-wave, Anemia, Reduced left ventricular ejection fract...	ORPHA:563
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t...	OMIM:614837
Androgen Insensitivity Syndrome	Labial hypoplasia, Elevated circulating luteinizing hormone level, Blind vagina, Primary amenorrh...	OMIM:300068
Branchioskeletogenital Syndrome	Mandibular prognathia, Unilateral cleft palate, Bifid uvula, Submucous cleft hard palate, Short p...	ORPHA:1299
Osteochondrosis Of The Metatarsal Bone	Arthritis, Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones	ORPHA:564003
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	High palate, Small pituitary gland, Delayed puberty, Cryptorchidism, Cleft lip, Primary amenorrhe...	OMIM:612702
Oslam Syndrome	Carious teeth, Radioulnar synostosis	ORPHA:2760
Perrault Syndrome 3	Streak ovary, Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Pri...	OMIM:614129
Leydig Cell Hypoplasia	Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea...	ORPHA:755
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le...	OMIM:115000
Jervell And Lange-Nielsen Syndrome 1	Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval	OMIM:220400
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Enamel hypoplasia, High palate, Ankyloglossia, Thin upper lip vermilion, Malar flattening, Bilate...	OMIM:618874
Rutherfurd Syndrome	Delayed eruption of primary teeth, Failure of eruption of permanent teeth	OMIM:180900
Akt2-Related Familial Partial Lipodystrophy	Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet...	ORPHA:79085
Usher Syndrome Type 2	Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology	ORPHA:231178
Hemifacial Atrophy, Progressive	Dental malocclusion, Short mandibular rami, Tongue atrophy, Delayed eruption of teeth	OMIM:141300
Variegate Porphyria	Tachycardia	OMIM:176200
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Camptodactyly of finger, Taurodontia, Abnormality of the dentition, Abnormal dental enamel morpho...	ORPHA:3220
Melorheostosis	Arthritis, Increased bone mineral density, Joint stiffness, Hyperostosis, Atypical scarring of sk...	ORPHA:2485
Obesity Due To Congenital Leptin Deficiency	Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ...	ORPHA:66628
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Arthritis, Joint stiffness, Knee osteoa...	ORPHA:566943
Post-Traumatic Pituitary Deficiency	Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu...	ORPHA:95619
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin...	ORPHA:90793
Premature Ovarian Failure 17	Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm...	OMIM:619146
Pseudohypoparathyroidism Type 1B	Enamel hypoplasia, Delayed eruption of teeth, Increased bone density with cystic changes, Increas...	ORPHA:94089
Craniometaphyseal Dysplasia	Osteopetrosis, Craniofacial hyperostosis	ORPHA:1522
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia, Tachycardia	OMIM:221400
Ichthyosis, Congenital, Autosomal Recessive 11	Conical primary incisor	OMIM:602400
Long Qt Syndrome 9	Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br...	OMIM:611818
Cohen Syndrome	Macrodontia of permanent maxillary central incisor, Micrognathia, Short philtrum, Joint hypermobi...	OMIM:216550
Hamamy Syndrome	Dental malocclusion, Enamel hypoplasia, High palate, Recurrent fractures, Long philtrum, Wide mou...	OMIM:611174
Premature Ovarian Failure 2A	Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate...	OMIM:300511
Raine Syndrome	Enamel hypoplasia, Mandibular prognathia, High palate, Wide mouth, Natal tooth, Increased bone mi...	OMIM:259775
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormal bone ossification, High palate, Long philtrum, Increased bone mineral density, Micrognat...	ORPHA:163649
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr...	OMIM:609040
Premature Ovarian Failure 14	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:618014
Seckel Syndrome 1	Dental malocclusion, Enamel hypoplasia, High palate, Selective tooth agenesis, Micrognathia, Elbo...	OMIM:210600
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi...	OMIM:617280
Hall-Riggs Syndrome	Wide mouth, Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morpho...	ORPHA:2107
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s...	OMIM:614897
Acrofacial Dysostosis, Catania Type	Carious teeth	OMIM:101805
Familial Dilated Cardiomyopathy	Abnormal circulating creatine kinase concentration, Elevated pulmonary artery pressure, Reduced l...	ORPHA:217607
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Aromatase Deficiency	Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:613546
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ...	ORPHA:179494
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Delayed eruption of permanent teeth, Am...	OMIM:204690
Long Qt Syndrome 1	Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,...	OMIM:192500
X-Linked Intellectual Disability Due To Gria3 Mutations	Short upper lip, Mandibular prognathia, Narrow palate, Macrodontia of permanent maxillary central...	ORPHA:364028
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Secondary amenorrhea, Decreased testicular size, Type II diabetes mellitus, Pol...	ORPHA:3085
Partial Androgen Insensitivity Syndrome	Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula...	ORPHA:90797
Coproporphyria, Hereditary	Tachycardia, Splenomegaly, Hypertension	OMIM:121300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Right ventricular dilatation, Left ...	OMIM:615616
Hyperinsulinism Due To Ucp2 Deficiency	Increased C-peptide level, Syncope, Hypertrophic cardiomyopathy, Palpitations, Tachycardia	ORPHA:276556
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Osteoporosis, Abnormality of the dentition	OMIM:615267
46,Xx Gonadal Dysgenesis	Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat...	ORPHA:243
Polyembryoma	Irregular menstruation, Macroorchidism, Isosexual precocious puberty, Increased serum testosteron...	ORPHA:180229
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Primary amenorrhea, Decreased testicular size, Small pituitary gland, Cryptorchidism, Cleft palat...	OMIM:614880
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Dental malocclusion, Mandibular prognathia, Abnormality of the dentition	ORPHA:1858
Retinal Dystrophy With Or Without Extraocular Anomalies	Premature ovarian insufficiency, Goiter, Secondary amenorrhea	OMIM:617175
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Taurodontia, Radioulnar synostosis, Inguinal he...	ORPHA:96263
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Retrognathia, Abnormal palate morphology, Joint hyperflexibility, Carious teeth, Malar flattening	ORPHA:1390
Tricho-Retino-Dento-Digital Syndrome	Oligodontia, Supernumerary tooth, Abnormality of the dentition	ORPHA:1264
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopa...	OMIM:613424
Familial Short Qt Syndrome	Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At...	ORPHA:51083
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Primary amenorrhea, Decreased testicular size, Diabetes mellitus, Absence of pubertal development...	OMIM:610628
Satoyoshi Syndrome	Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Nephrogenic diabete...	ORPHA:3130
Metaphyseal Dysplasia, Braun-Tinschert Type	Thin bony cortex, Increased bone mineral density, Premature loss of primary teeth, Coarse metaphy...	ORPHA:85188
Diastrophic Dysplasia	Camptodactyly of finger, Increased bone mineral density, Micrognathia, Joint hyperflexibility, Cl...	ORPHA:628
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Supraventricular tachycardia, Cardiac arrest, Dilated cardiomyopathy, Hypertrophic cardiomyopathy...	OMIM:612158
Microcephalic Primordial Dwarfism, Montreal Type	Micrognathia, Abnormal palate morphology, Shagreen patch, Carious teeth, Lipoatrophy, Open bite, ...	ORPHA:2617
Pituitary Gigantism	Hyperhidrosis, Increased circulating prolactin concentration, Mandibular prognathia, Type II diab...	ORPHA:99725
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Immunodeficiency 10	Amelogenesis imperfecta	OMIM:612783
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Calvarial osteosclerosis, Dental crowding, Cranial hyperostosis, Sclerosis...	OMIM:123000
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Calvarial hyperostosis, Carious teeth, Osteopenia	OMIM:612714
Mandibuloacral Dysplasia With Type B Lipodystrophy	Flexion contracture, High palate, Acroosteolysis of distal phalanges (feet), Micrognathia, Decrea...	OMIM:608612
Mucopolysaccharidosis Type 4	Reduced bone mineral density, Hernia, Wide mouth, Grayish enamel, Joint hyperflexibility, Carious...	ORPHA:582
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Premature ventricular contraction, Syncope, Tachycardia	OMIM:192445
Odontomicronychial Dysplasia	Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormality of the dentition	ORPHA:1811
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,...	OMIM:600858
Cidec-Related Familial Partial Lipodystrophy	Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet...	ORPHA:435651
Left Ventricular Noncompaction 1	Sudden cardiac death, Ventricular arrhythmia, Noncompaction cardiomyopathy, Congestive heart fail...	OMIM:604169
Mullerian Aplasia And Hyperandrogenism	Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the uterus, Primary amenorrhea, ...	OMIM:158330
Weismann-Netter Syndrome	Calvarial hyperostosis, Delayed eruption of permanent teeth	OMIM:112350
Auriculocondylar Syndrome 1	Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia, Dental crowding, Ankylosis, Nar...	OMIM:602483
Mandibuloacral Dysplasia	Contractures of the large joints, High palate, Acroosteolysis of distal phalanges (feet), Lipoatr...	ORPHA:2457
Perrault Syndrome 1	Increased circulating gonadotropin level, High palate, Gonadal dysgenesis, Primary amenorrhea	OMIM:233400
Hereditary Pulmonary Alveolar Proteinosis	Elevated carcinoembryonic antigen level, Abnormal circulating protein concentration, Tachycardia,...	ORPHA:264675
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Increased C-peptide level, Syncope, Hypertrophic cardiomyopathy, Palpitations, Tachycardia	ORPHA:276575
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Malar flattening, Mandibular prognathia, High palate, Abnormal dental enamel morphology	ORPHA:2180
Gray Platelet Syndrome	Abnormality of the menstrual cycle	ORPHA:721
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Decreased fertility, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal...	ORPHA:2235
Pituitary Adenoma 1, Multiple Types	Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact...	OMIM:102200
Premature Ovarian Failure 20	Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle...	OMIM:619938
Long Qt Syndrome 5	Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv...	OMIM:613695
Cleidocranial Dysplasia 1	Increased susceptibility to fractures, Enamel hypoplasia, Narrow palate, High palate, Hypoplastic...	OMIM:119600
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Increased C-peptide level, Syncope, Hypertrophic cardiomyopathy, Palpitations, Tachycardia	ORPHA:276580
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Abnormal circulating creatine kinase concentration, Right bundle branch block, T-wave inversion, ...	ORPHA:263297
Atrial Fibrillation, Familial, 10	Permanent atrial fibrillation, Tricuspid regurgitation, Right ventricular dilatation, Left ventri...	OMIM:614022
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Taurodontia, Radioulnar synostosis, Joint hyper...	ORPHA:96264
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn...	ORPHA:300751
Cardiomyopathy, Dilated, 1A	Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio...	OMIM:115200
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Frasier Syndrome	Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased circulating gonad...	ORPHA:347
Lipodystrophy, Familial Partial, Type 3	Primary amenorrhea, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Polycystic ov...	OMIM:604367
Cole-Carpenter Syndrome	Recurrent fractures, Delayed eruption of teeth, Micrognathia, Joint hyperflexibility, Abnormal de...	ORPHA:2050
Relapsing Fever	Hypotension, Leukopenia, Anemia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein...	ORPHA:91547
Oculodentodigital Dysplasia	Enamel hypoplasia, Cleft upper lip, High palate, Vertebral hyperostosis, Selective tooth agenesis...	OMIM:164200
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Carious teeth, Hypodontia, Reduced subcutaneous adipose tissue, Limb joint contracture	OMIM:612079
Jervell And Lange-Nielsen Syndrome 2	Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q...	OMIM:612347
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis	OMIM:241520
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia, Natal tooth	ORPHA:99811
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Incisor macrodontia, High palate, Thin upper lip vermilion, Tented upper lip vermilion, Abnormali...	ORPHA:438216
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Mandibular prognathia, Hypodontia, Vaginal hernia, Cleft palate, Macrodontia, A...	ORPHA:2916
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Gingival bleeding, Umbilical hernia	OMIM:606893
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul...	OMIM:616950
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Dental malocclusion, Long philtrum, Micrognathia, Joint laxity, Maxillary lateral incisor microdo...	ORPHA:73223
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Ambiguous genitalia, Precocious puberty, Premature thelarche, Ambiguous genitalia, female, Decrea...	ORPHA:90795
Coronary Arterial Fistula	Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Abnormal EKG, Ele...	ORPHA:2041
Bacterial Toxic-Shock Syndrome	Hypotension, Septic arthritis, Fasciitis, Elevated circulating creatine kinase concentration, Sho...	ORPHA:36234
Orofacial Cleft 15	Palate fistula, Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip	OMIM:616788
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Juvenile Temporal Arteritis	Conjunctivitis, Cerebral ischemia, Allergic rhinitis, Leukocytosis, Eosinophilia, Vasculitis	ORPHA:26137
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Cleidocranial Dysplasia	Mandibular prognathia, Recurrent fractures, Glossoptosis, Delayed eruption of teeth, Micrognathia...	ORPHA:1452
Scarf Syndrome	Enamel hypoplasia, Long philtrum, Coronal craniosynostosis, Inguinal hernia, Lambdoidal craniosyn...	OMIM:312830
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Craniometadiaphyseal Dysplasia	Mandibular prognathia, High palate, Natal tooth, Absent paranasal sinuses, Microdontia, Dental cr...	OMIM:269300
Blepharo-Cheilo-Odontic Syndrome	Conical tooth, Carious teeth, Bilateral cleft lip and palate	ORPHA:1997
Codas Syndrome	Abnormality of dental morphology, Abnormal dental enamel morphology, Joint hyperflexibility, Dela...	ORPHA:1458
Cardiomyopathy, Familial Hypertrophic, 17	Angina pectoris, Hypertrophic cardiomyopathy, Ventricular tachycardia, Palpitations, Atrial fibri...	OMIM:613873
Smith-Magenis Syndrome	Cleft upper lip, Mandibular prognathia, Delayed eruption of primary teeth, Micrognathia, Taurodon...	ORPHA:819
Normosmic Congenital Hypogonadotropic Hypogonadism	Impotence, Primary amenorrhea, Cleft palate, Hypoplasia of the uterus, Delayed puberty, Absence o...	ORPHA:432
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Premature ovarian insufficiency, Amenorrhea	OMIM:619425
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Crohn's disease, Tricuspid regurgitation, Decreased circulating total IgM, Bronchiectasis, Neutro...	OMIM:619705
Hemochromatosis, Type 2A	Arthritis, Infertility, Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea	OMIM:602390
Immunodeficiency 9	Amelogenesis imperfecta, Recurrent aphthous stomatitis, Stomatitis	OMIM:612782
Short Syndrome	Abnormal mandible morphology, Microdontia, Inguinal hernia, Lipodystrophy, Joint hyperflexibility...	ORPHA:3163
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Micrognathia, Delayed ossification of carpal bones, Limited hip ...	ORPHA:93346
Short Qt Syndrome 3	Shortened QT interval, Palpitations, Tachycardia	OMIM:609622
Ovarian Dysgenesis 8	Elevated circulating luteinizing hormone level, Hypoplastic labia majora, Elevated circulating fo...	OMIM:618187
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dentinogenesis imperfecta, High palate, Multiple joint contractures, Recurrent fractures, Long ph...	ORPHA:536467
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s...	OMIM:614839
Estrogen Resistance Syndrome	Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal...	ORPHA:785
Interstitial Cystitis	Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Urinary bladder infla...	ORPHA:37202
Tooth Agenesis, Selective, 4	Tooth agenesis, Peg-shaped maxillary lateral incisors, Agenesis of permanent teeth, Abnormality o...	OMIM:150400
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Acne, Premature pubarche, Secondary amenorrhea	OMIM:612847
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hypodontia, Enamel hypoplasia, Oligodontia	OMIM:607626
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Irregular menstruation, Precocious puberty, Hyperthyroidism, Abnormal testis morphology, Abnormal...	ORPHA:457059
Long Qt Syndrome 12	Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation	OMIM:612955
Temtamy Syndrome	Micrognathia, Dental crowding, Long philtrum, Hypoplasia of teeth	OMIM:218340
Hyperinsulinism Due To Hnf1A Deficiency	Increased C-peptide level, Syncope, Palpitations, Tachycardia	ORPHA:324575
Alopecia Antibody Deficiency	Abnormality of dental color	ORPHA:1006
Glycogen Storage Disease Xv	Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva...	OMIM:613507
Autosomal Recessive Hypophosphatemic Rickets	Osteomalacia, Abnormal trabecular bone morphology, Increased bone mineral density, Rickets of the...	ORPHA:289176
Sanjad-Sakati Syndrome	Long philtrum, Micrognathia, Patchy osteosclerosis, Thin vermilion border, Abnormality of the den...	ORPHA:2323
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Severely reduced left ventricular ejection fraction, Congestive heart failu...	OMIM:611705
Cardiomyopathy, Dilated, 1Nn	Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc...	OMIM:615916
Hypophosphatemic Rickets, X-Linked Dominant	Enamel hypomineralization, Osteomalacia, Rickets, Hypophosphatemic rickets, Osteoarthritis	OMIM:307800
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Osteosclerosis of the base of the skull, Subperiosteal bone formation	OMIM:609993
Dysplastic Cortical Hyperostosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Mandibuloacral Dysplasia With Type A Lipodystrophy	Increased facial adipose tissue, Flexion contracture, High palate, Acroosteolysis of distal phala...	OMIM:248370
Celiac Disease, Susceptibility To, 1	Enamel hypoplasia, Recurrent aphthous stomatitis, Stomatitis, Rickets, Osteoporosis	OMIM:212750
Kohlschutter-Tonz Syndrome-Like	Enamel hypoplasia, Delayed eruption of teeth, Widely spaced teeth, Abnormality of dental morpholo...	OMIM:619229
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Amelogenesis imperfecta, Abnormalit...	ORPHA:1031
Frasier Syndrome	Male pseudohermaphroditism, Gonadal dysgenesis, Ovarian gonadoblastoma, Primary amenorrhea	OMIM:136680
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Obtuse angle of mandible, Temporomandibular joint ankylosis, Synostosis ...	ORPHA:2741
Congenital Disorder Of Glycosylation, Type Iil	Retrognathia, Enamel hypoplasia	OMIM:614576
Cockayne Syndrome Type 1	Enamel hypoplasia, Foot joint contracture, Mandibular prognathia, Delayed eruption of primary tee...	ORPHA:90321
Immunodeficiency 69	Anemia, Skin rash, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration...	OMIM:618963
Lipe-Related Familial Partial Lipodystrophy	Abnormal labia majora morphology, Decreased serum leptin, Polycystic ovaries, Decreased adiponect...	ORPHA:435660
Marshall Syndrome	Thick upper lip vermilion, Pierre-Robin sequence, Long philtrum, Macrodontia of permanent maxilla...	OMIM:154780
Infant Acute Respiratory Distress Syndrome	Hypotension, Cardiac arrest, Pneumonia, Bradycardia, Tachycardia	ORPHA:70587
Glucocorticoid Resistance, Generalized	Irregular menstruation, Increased serum testosterone level, Increased circulating cortisol level,...	OMIM:615962
Non-Functioning Pituitary Adenoma	Impotence, Decreased female libido, Anterior hypopituitarism, Adrenal insufficiency, Increased ci...	ORPHA:91349
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Cleft soft palate, Oligodontia of primary teeth	OMIM:216300
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Atrial fibrillation, Hypertro...	OMIM:613690
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Primary amenorrhea, Cleft upper lip, Cryptorchidism, Hypogonadotropic hypogonadism, Cleft palate,...	OMIM:244200
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Enamel hypoplasia, Bifid uvula, Wide mouth, Abnormality of the dentition	OMIM:615802
Idiopathic/Heritable Pulmonary Arterial Hypertension	Pulmonary arterial hypertension, Heart murmur, Elevated jugular venous pressure, Syncope, Palpita...	ORPHA:422
Malignant Hyperthermia, Susceptibility To, 1	Hypotension, Tachycardia, Elevated circulating creatine kinase concentration	OMIM:145600
Seckel Syndrome	Micrognathia, Tooth agenesis, Joint hyperflexibility, Craniosynostosis, Abnormal dental enamel mo...	ORPHA:808
Congenital Generalized Lipodystrophy	Precocious puberty in females, Hyperinsulinemia, Mandibular prognathia, Overgrowth of external ge...	ORPHA:528
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease...	ORPHA:90796
Brugada Syndrome 3	Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr...	OMIM:611875
Sick Sinus Syndrome 2	Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f...	OMIM:163800
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Hypodontia, Ankylosis, Osteolysis, Abnormal oral mucosa morphology, Carious teeth, Abnormality of...	ORPHA:659
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Long philtrum, Micrognathia, Oligodontia, Short philtrum, Joint laxity, Dorsocervical fat pad, Th...	ORPHA:391408
Cerebellofaciodental Syndrome	Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor	OMIM:616202
Cardiomyopathy, Familial Hypertrophic, 8	Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w...	OMIM:608751
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Abnormal dental enamel morphology	ORPHA:257
Gonadoblastoma	Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc...	ORPHA:206484
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis	ORPHA:242
46,Xy Partial Gonadal Dysgenesis	Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le...	ORPHA:251510
Craniolenticulosutural Dysplasia	High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Bifid uvula, Joint laxity, Thi...	OMIM:607812
Oculodentodigital Dysplasia	Camptodactyly of finger, Non-midline cleft lip, Mandibular prognathia, Micrognathia, Broad alveol...	ORPHA:2710
Jervell And Lange-Nielsen Syndrome	Torsade de pointes, Syncope, Arrhythmia, Iron deficiency anemia, Prolonged QTc interval, Ventricu...	ORPHA:90647
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure	OMIM:605676
Romano-Ward Syndrome	Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo...	ORPHA:101016
Autosomal Recessive Spastic Paraplegia Type 77	Retrognathia, Macrodontia of permanent maxillary central incisor	ORPHA:466722
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Cleft upper lip, Micrognathia, Abnormality of dental morphology, Hypodontia, Anodontia, Hypoplasi...	ORPHA:3253
Autosomal Recessive Kenny-Caffey Syndrome	Carious teeth, Cortical thickening of long bone diaphyses, Decreased skull ossification, Calvaria...	ORPHA:93324
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Splenomegaly, Congestive heart failure, Autoimmune hemolytic anemia	ORPHA:90037
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Camptodactyly of finger, Carious teeth, Joint contracture of the 5th finger	ORPHA:1883
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microdontia, Hypoplasia of teeth, Cleft palate, Widely spaced teeth	ORPHA:2728
Acquired Methemoglobinemia	Syncope, Palpitations, Arrhythmia, Methemoglobinemia, Tachycardia	ORPHA:464453
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Polycystic ovaries, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Secondar...	OMIM:268020
Lenz-Majewski Hyperostotic Dwarfism	Knee flexion contracture, Proximal symphalangism of hands, Enamel hypoplasia, Mandibular prognath...	OMIM:151050
Naxos Disease	Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C...	ORPHA:34217
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures	OMIM:166740
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism	ORPHA:2229
Nail-Patella Syndrome	Knee flexion contracture, Enamel hypoplasia, Flexion contracture, Arthritis, Elbow flexion contra...	ORPHA:2614
Myotonic Dystrophy 2	Right bundle branch block, Decreased circulating total IgM, Elevated circulating creatine kinase ...	OMIM:602668
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Cardiac arrest, Elevated circulating creatine kinase concentration, Premature ventri...	OMIM:212138
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Cerebellar-Facial-Dental Syndrome	Dental malocclusion, Foot joint contracture, Long philtrum, Macrodontia of permanent maxillary ce...	ORPHA:444072
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Retrognathia, Narrow palate, Joint contracture of the hand, Delayed eruption of teeth, Coronal cr...	OMIM:235510
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Wide mouth, Increased bone mineral density, Elbow ankylosis, Bifid uvula, ...	ORPHA:2658
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume...	OMIM:611878
Danon Disease	Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej...	OMIM:300257
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Inflammatory abnormality of the skin, Dilated cardiomyopathy, Elevated circulating creatine kinas...	ORPHA:26793
Chronic Atrial And Intestinal Dysrhythmia	Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ...	OMIM:616201
Paget Disease Of Bone 5, Juvenile-Onset	Recurrent fractures, Increased bone mineral density, Ankylosis, Macular scar, Osteopenia, Prematu...	OMIM:239000
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of...	ORPHA:65681
Isolated Cleft Lip	Supernumerary maxillary incisor, Non-midline cleft lip, Bilateral cleft lip, Hypodontia, Velophar...	ORPHA:199302
Hidrotic Ectodermal Dysplasia, Halal Type	Retrognathia, Supernumerary nipple, Irregular menstruation	ORPHA:1809
Lig4 Syndrome	Hypothyroidism, Cryptorchidism, Psoriasiform dermatitis, Micropenis, Amenorrhea	OMIM:606593
Prolactinoma	Impotence, Decreased female libido, Anterior hypopituitarism, Secondary growth hormone deficiency...	ORPHA:2965
Leber Hereditary Optic Neuropathy	Arrhythmia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenogenital syndrome, Ambiguous genitalia, Adrenal hyperplasia, Male pseudohermaphroditism, Pri...	OMIM:202110
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, B lymphocytopenia, Neutrophilia, Recurrent sinusitis, Inflammati...	OMIM:619281
Orofaciodigital Syndrome Type 2	Talon cusp, Bifid tongue, High palate, Natal tooth, Tongue nodules, Unilateral alveolar cleft of ...	ORPHA:2751
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Dental malocclusion, Joint contracture of the hand, Micrognathia, Camptodactyly, Malar flattening	OMIM:608257
Odontotrichoungual-Digital-Palmar Syndrome	Dental malocclusion, Mandibular prognathia, Natal tooth, Thick vermilion border	OMIM:601957
Cardiospondylocarpofacial Syndrome	Synostosis of carpal bones, High, narrow palate, Failure of eruption of permanent teeth, Tooth ma...	ORPHA:3238
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Retrognathia, Enamel hypoplasia, Distal symphalangism, Microdontia, Limited elbow extension	OMIM:210720
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Cleft upper lip, Delayed puberty, Tooth agenesis, Cryptorchidism, Primary amenorrhea, Hypogonadot...	OMIM:147950
Xfe Progeroid Syndrome	Enamel hypoplasia, Corneal scarring, Premature loss of teeth, Absence of subcutaneous fat	OMIM:610965
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:607487
Arthrogryposis And Ectodermal Dysplasia	Cleft upper lip, Joint contracture of the hand, Oligodontia, Camptodactyly, Orofacial cleft, Atyp...	OMIM:601701
Pituitary Stalk Interruption Syndrome	Primary amenorrhea, Hypothyroidism, Diabetes insipidus, Hypoplasia of penis, Ectopic posterior pi...	ORPHA:95496
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy	OMIM:604401
Knobloch Syndrome 2	Enamel hypoplasia, Micrognathia	OMIM:618458
Mayer-Rokitansky-Kuster-Hauser Syndrome	Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus	OMIM:277000
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Arthritis, Impotence, Amenorrhea	OMIM:604250
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h...	ORPHA:91354
Imerslund-Gräsbeck Syndrome	Angular cheilitis, Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, ...	ORPHA:35858
Kilquist Syndrome	Mandibular prognathia, Hypoplasia of teeth, Wide mouth	OMIM:619080
Long Qt Syndrome 14	T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT...	OMIM:616247
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
W Syndrome	Agenesis of maxillary central incisor, Upper lip pit, Submucous cleft hard palate, Camptodactyly,...	ORPHA:2804
Familial Afibrinogenemia	Menometrorrhagia, Gingival bleeding	ORPHA:98880
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Ventricular tachycardia, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:600649
Sick Sinus Syndrome 1	Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin...	OMIM:608567
Odontoonychodermal Dysplasia	Hypodontia, Widely spaced primary teeth, Agenesis of permanent teeth, Smooth tongue, Conical inci...	OMIM:257980
Lipodystrophy, Familial Partial, Type 5	Irregular menstruation, Decreased serum leptin, Diabetic ketoacidosis, Decreased adiponectin level	OMIM:615238
Renal Hypodysplasia/Aplasia 1	Retrognathia, Bicornuate uterus, Vaginal atresia, Primary amenorrhea	OMIM:191830
Long Qt Syndrome 8	Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ...	OMIM:618447
Blomstrand Lethal Chondrodysplasia	Long philtrum, Natal tooth, Increased bone mineral density, Micrognathia, Synostosis of joints, P...	ORPHA:50945
Mixed-Type Autoimmune Hemolytic Anemia	Skin rash, Tachycardia, Autoimmune hemolytic anemia	ORPHA:90036
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Corneodermatoosseous Syndrome	Carious teeth, Gingivitis, Abnormal dental enamel morphology	ORPHA:3194
Rh Deficiency Syndrome	Reduced haptoglobin level, Stomatocytosis, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly,...	ORPHA:71275
Snakebite Envenomation	Hypotension, Cerebral ischemia, Cardiogenic shock, Intracranial hemorrhage, Epistaxis, Myocardial...	ORPHA:449285
Cenani-Lenz Syndrome	Hypodontia, Synostosis of carpal bones, Radioulnar synostosis, Short philtrum, Synostosis of join...	ORPHA:3258
Intellectual Developmental Disorder With Cardiac Arrhythmia	Bradycardia, Sick sinus syndrome, Arrhythmia	OMIM:617173
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hypotension, Acute myeloid leukemia, Splenomegaly, Myeloid leukemia, Increased basophil count, Ch...	ORPHA:98849
46,Xy Sex Reversal 7	Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi...	OMIM:233420
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Highly elevated creatine kinase, Hypertrophic cardiomyopathy, Tachycardia, Elevated circulating c...	ORPHA:368
Graft Versus Host Disease	Maculopapular exanthema, Inflammatory abnormality of the skin, Arthritis, Inflammatory abnormalit...	ORPHA:39812
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, High palate, Premature ovarian insufficiency, Increased circulating gonad...	OMIM:110100
Proprotein Convertase 1/3 Deficiency	Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Primary amenorrhea	OMIM:600955
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Long philtrum, Micrognathia, Short philtrum, Joint laxity, Hypoplasia of t...	ORPHA:439822
Peritoneal Cystic Mesothelioma	Metrorrhagia, Dyspareunia, Peritonitis, Menorrhagia	ORPHA:168816
Immunodeficiency 27A	Anemia, Hepatosplenomegaly, Histiocytosis, Increased inflammatory response, Thrombocytosis, Incre...	OMIM:209950
Trichothiodystrophy	Retrognathia, Enamel hypoplasia, Multiple joint contractures, Hypoplasia of mandible relative to ...	ORPHA:33364
Ellis Van Creveld Syndrome	Capitate-hamate fusion, Delayed eruption of teeth, Microdontia, Synostosis of carpal bones, Hypod...	ORPHA:289
Junctional Epidermolysis Bullosa With Pyloric Atresia	Enamel hypoplasia, Oral mucosal blisters	ORPHA:79403
Osteogenesis Imperfecta	Flexion contracture, Delayed eruption of teeth, Micrognathia, Abnormal dental enamel morphology, ...	ORPHA:666
Cardiomyopathy, Dilated, 1D	Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat...	OMIM:601494
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Distal foot symphalangism, Microdontia, Pulp calcification, Absent trapezium, Distal symphalangis...	OMIM:606895
Orofaciodigital Syndrome I	Lobulated tongue, Cleft upper lip, Enamel hypoplasia, Bifid tongue, High palate, Tongue nodules, ...	OMIM:311200
Pseudohypoparathyroidism Type 1C	Enamel hypoplasia, Increased bone mineral density, Ectopic ossification, Delayed eruption of teeth	ORPHA:79444
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Enamel hypoplasia, Omphalocele	OMIM:243150
46,Xx Ovotesticular Disorder Of Sex Development	Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ...	ORPHA:2138
Spondylocarpotarsal Synostosis Syndrome	Enamel hypoplasia, Vertebral fusion, Capitate-hamate fusion, Block vertebrae, Carpal synostosis, ...	OMIM:272460
Ventricular Fibrillation, Paroxysmal Familial, 2	Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation	OMIM:612956
12Q14 Microdeletion Syndrome	Hypodontia, Micrognathia, Osteopoikilosis, Downturned corners of mouth, Thin vermilion border	ORPHA:94063
Sepsis In Premature Infants	Hypotension, Splenomegaly, Anemia, Enterocolitis, Increased circulating interleukin 6 concentrati...	ORPHA:90051
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Wide mouth, Widely spaced teeth, Grayish enamel, Joint laxity, Inguinal he...	OMIM:253000
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Wide mouth, Coronal craniosynostosis, Micrognathia, Abnormality of dental morphology, Thick vermi...	ORPHA:85199
Rothmund-Thomson Syndrome	Increased susceptibility to fractures, Delayed eruption of teeth, Abnormal trabecular bone morpho...	ORPHA:2909
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Pierre-Robin sequence, Hypoplastic frontal sinuses, Increased bone miner...	ORPHA:90652
Luscan-Lumish Syndrome	Irregular menstruation, Mandibular prognathia, Recurrent otitis media, Polycystic ovaries, Malar ...	OMIM:616831
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia	ORPHA:276608
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Enamel hypoplasia, Scarring, Atrophic scars, Oral mucosal blisters, Smooth tongue, Craniosynostosis	ORPHA:79396
Codas Syndrome	Enamel hypoplasia, Generalized joint laxity, Delayed eruption of teeth, Delayed ossification of c...	OMIM:600373
Crisponi/Cold-Induced Sweating Syndrome 1	Retrognathia, High palate, Long philtrum, Micrognathia, Elbow flexion contracture, Camptodactyly,...	OMIM:272430
Developmental And Epileptic Encephalopathy 100	Bilateral camptodactyly, Enamel hypoplasia, High palate, Micrognathia, Elbow flexion contracture,...	OMIM:619777
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Tooth abscess, Osteomalacia	ORPHA:89937
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Palpitations, Tachycardia	OMIM:188580
Brugada Syndrome 2	Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr...	OMIM:611777
Tako-Tsubo Cardiomyopathy	Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ...	ORPHA:66529
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Chronic lymphatic leukemia, Congestive heart failure, Autoimmune hemolytic anemia, ...	ORPHA:90033
Congenital Factor Vii Deficiency	Ovarian cyst, Gingival bleeding, Menorrhagia	ORPHA:327
Sweet Syndrome	Oligoarthritis, Acute myeloid leukemia, Sterile abscess, Anemia, Increased circulating interleuki...	ORPHA:3243
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart...	ORPHA:1329
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Enamel hypoplasia	OMIM:240300
Cranioectodermal Dysplasia 3	Sagittal craniosynostosis, Widely spaced teeth, Micrognathia, Joint laxity, Everted lower lip ver...	OMIM:614099
Schimke Immuno-Osseous Dysplasia	Hypodontia, Microdontia, Abnormality of primary molar morphology	ORPHA:1830
Galactosemia	Decreased fertility, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insufficiency, D...	ORPHA:352
Desmosterolosis	Retrognathia, Increased bone mineral density, Micrognathia, Bifid uvula, Submucous cleft hard pal...	ORPHA:35107
Combined Oxidative Phosphorylation Deficiency 54	Retrobulbar optic neuritis, Tachycardia	OMIM:619737
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Wide mouth, Widely spaced teeth, Grayish enamel, Joint laxity, Inguinal he...	OMIM:253010
Spondyloepiphyseal Dysplasia Tarda	Limited elbow movement, Hip osteoarthritis, Increased bone mineral density, Synovitis, Osteoarthr...	ORPHA:93284
Acrootoocular Syndrome	Dental malocclusion, Delayed eruption of teeth, Grayish enamel, Micrognathia, Anodontia, Supernum...	ORPHA:2980
Mohr Syndrome	Lobulated tongue, Bifid tongue, High palate, Tongue nodules, Micrognathia, Median cleft lip, Hypo...	OMIM:252100
Tetanus	Tachycardia, Bradycardia, Hypertension, Elevated circulating creatine kinase concentration	ORPHA:3299
Polycythemia Vera	Increased red blood cell mass, Cerebral ischemia, Cerebral hemorrhage, Increased hematocrit, Thro...	OMIM:263300
Progressive Familial Heart Block, Type Ib	Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f...	OMIM:604559
Classic Galactosemia	Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuf...	ORPHA:79239
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca...	OMIM:617222
Cleidocranial Dysplasia 2	Delayed eruption of primary teeth, Delayed ossification of carpal bones, Supernumerary tooth, Hyp...	OMIM:620099
Paternal Uniparental Disomy Of Chromosome 1	Craniosynostosis, Recurrent fractures, Abnormal dental enamel morphology	ORPHA:251004
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Primary gonadal insufficiency, Impotence, Aplasia of the ovary, Decreased serum estradiol, Absenc...	ORPHA:2232
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Hypoplasia of teeth	OMIM:234050
Dyskeratosis Congenita	Recurrent fractures, Periodontitis, Hypodontia, Coarse metaphyseal trabecularization, Taurodontia...	ORPHA:1775
Pparg-Related Familial Partial Lipodystrophy	Primary amenorrhea, Secondary amenorrhea, Maternal diabetes, Diabetes mellitus, Polycystic ovarie...	ORPHA:79083
Satoyoshi Syndrome	Amenorrhea, Hypoplasia of the uterus	OMIM:600705
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Hypocalcification of dental enamel	ORPHA:169090
Costello Syndrome	Narrow palate, Thick lower lip vermilion, Macroglossia, Joint hyperflexibility, Abnormality of th...	ORPHA:3071
Tropical Endomyocardial Fibrosis	Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio...	ORPHA:75565
Cardiomyopathy, Familial Hypertrophic, 13	Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca...	OMIM:613243
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Long philtrum, Micrognathia, Bifid uvula, Patchy osteosclerosis, Thin upper lip vermilion, Thin v...	OMIM:241410
Kenny-Caffey Syndrome, Type 1	Carious teeth, Decreased skull ossification, Calvarial osteosclerosis	OMIM:244460
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Synostosis of carpal bones, Joint stiffness, Abnormal dental enamel morphology	ORPHA:1005
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Cleft mandible, Prominence of the zygomatic bone, Pierre-Robin sequence, Oligodontia, Everted low...	ORPHA:364577
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea...	ORPHA:90794
Generalized Glucocorticoid Resistance Syndrome	Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu...	ORPHA:786
Primary Hyperoxaluria	Recurrent fractures, Generalized osteosclerosis, Abnormal dental pulp morphology, Rootless teeth,...	ORPHA:416
Pheochromocytoma--Islet Cell Tumor Syndrome	Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten...	OMIM:171420
Hypoplasminogenemia	Gingivitis, Abnormal fallopian tube morphology, Periodontitis, Abnormality of the ovary, Cervicit...	ORPHA:722
Kallmann Syndrome	Decreased fertility, Anterior hypopituitarism, Decreased testicular size, Hypothalamic gonadotrop...	ORPHA:478
Crimean-Congo Hemorrhagic Fever	Hypotension, Hemoperitoneum, Elevated circulating creatine kinase concentration, Abnormal left ve...	ORPHA:99827
Dyskeratosis Congenita, Autosomal Recessive 6	Carious teeth, Oral leukoplakia, Premature loss of teeth	OMIM:616353
Pseudohypoparathyroidism Type 1A	Enamel hypoplasia, Ectopic ossification, Delayed eruption of teeth, Hyperostosis frontalis intern...	ORPHA:79443
Atrial Septal Defect, Ostium Secundum Type	Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati...	ORPHA:99103
Mccune-Albright Syndrome	Decreased fertility, Dental malocclusion, Irregular menstruation, Precocious puberty, Increased c...	ORPHA:562
Usher Syndrome	Carious teeth, Microdontia, Abnormality of dental color, Abnormal dental enamel morphology	ORPHA:886
Lipodystrophy, Familial Partial, Type 4	Insulin-resistant diabetes mellitus, Oligomenorrhea	OMIM:613877
Short Qt Syndrome 2	Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri...	OMIM:609621
Cranioectodermal Dysplasia 1	Sagittal craniosynostosis, Enamel hypoplasia, High palate, Widely spaced teeth, Microdontia, Hypo...	OMIM:218330
Sclerosteosis 1	Dental malocclusion, Mandibular prognathia, Facial palsy secondary to cranial hyperostosis, Scler...	OMIM:269500
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Non-midline cleft lip, Delayed eruption of teeth, Widely spaced teeth, Micrognathi...	ORPHA:1071
Koolen-De Vries Syndrome	Vertebral fusion, Narrow palate, Microdontia, Hypodontia, Everted lower lip vermilion, Joint hype...	ORPHA:96169
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Micrognathia, Velopharyngeal insufficiency, Dental malocclusion	OMIM:613680
Ring Chromosome 21 Syndrome	Diabetes insipidus, Infertility, Azoospermia, Amenorrhea	ORPHA:1445
3M Syndrome	Long philtrum, Delayed eruption of teeth, Everted lower lip vermilion, Joint hyperflexibility, Ab...	ORPHA:2616
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Microdontia, Inguinal hernia, Hypoplasia of the zygomatic bone, Cleft palate, Abnor...	ORPHA:1812
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Erythema nodosum, Arthritis, Skin rash, Elevated circulating C-rea...	OMIM:611762
Schnitzler Syndrome	Anemia, Arthritis, Skin rash, Increased circulating IgM level, Leukocytosis, Splenomegaly, Vascul...	ORPHA:37748
Naxos Disease	Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, T-wave inversi...	OMIM:601214
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Abnormal circulating A-type atrial natriuretic peptide concen...	ORPHA:57777
Cockayne Syndrome A	Dental malocclusion, Enamel hypoplasia, Mandibular prognathia, Hip contracture, Delayed eruption ...	OMIM:216400
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Conical tooth, Everted upper lip vermilion, Microdontia, Hypodontia, Taurodontia, Everted lower l...	OMIM:305100
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Atrial Standstill 2	Hyperpepsinogenemia I, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia,...	OMIM:615745
Acrodysostosis	Irregular menstruation, Mandibular prognathia, Abnormality of female external genitalia, Hypogona...	ORPHA:950
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Long philtrum, Velopharyngeal insufficiency, Submucous cleft hard palate, Radioulnar synostosis, ...	OMIM:614701
Treacher-Collins Syndrome	Retrognathia, Cleft upper lip, High palate, Wide mouth, Abnormality of the dentition, Micrognathi...	ORPHA:861
Hydroxykynureninuria	Hypotension, Stomatitis, Tachycardia	ORPHA:79155
Short Qt Syndrome 7	Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation	OMIM:620231
Long Qt Syndrome 16	T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval	OMIM:618782
Gaucher Disease Type 1	Increased bone mineral density, Osteolysis, Osteopenia, Gingival bleeding, Pathologic fracture, O...	ORPHA:77259
Desmosterolosis	Joint contracture of the hand, Micrognathia, Gingival fibromatosis, Generalized osteosclerosis, A...	OMIM:602398
Paragangliomas 3	Hypertension associated with pheochromocytoma, Palpitations, Tachycardia	OMIM:605373
Chronic Mucocutaneous Candidiasis	Abnormal lip morphology, Cheilitis, Abnormal dental enamel morphology	ORPHA:1334
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Osteopetrosis, Recurrent fractures	OMIM:611490
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Cong...	ORPHA:75564
Lead Poisoning	Tubulointerstitial nephritis, Delayed eruption of teeth, Decreased female libido, Skin rash, Infe...	ORPHA:330015
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Downturned corners of mouth, Narrow mouth, Hypoplasia of the zygomatic bon...	ORPHA:1110
Juvenile Neuronal Ceroid Lipofuscinosis	Aspiration pneumonia, Tachycardia	ORPHA:79264
Lipodystrophy, Congenital Generalized, Type 4	Splenomegaly, Elevated circulating creatine kinase concentration, Recurrent pneumonia, Prolonged ...	OMIM:613327
Congenital Disorder Of Glycosylation, Type Iim	Enamel hypoplasia, Mandibular prognathia, High palate, Short philtrum, Fused teeth, Open mouth, E...	OMIM:300896
Adenohypophysitis	Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def...	ORPHA:95512
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Enamel hypoplasia, Foot joint contracture, Flexion contracture, Erosion of oral mucosa, Ankyloglo...	ORPHA:79408
Orofaciodigital Syndrome Iii	Bifid tongue, Tongue nodules, Microdontia, Bifid uvula, Supernumerary tooth	OMIM:258850
Schwartz-Jampel Syndrome	Wrist flexion contracture, Increased bone mineral density, Micrognathia, Everted lower lip vermil...	ORPHA:800
Osteopetrosis, Autosomal Recessive 5	Long philtrum, Increased bone mineral density, Micrognathia, Decreased osteoclast count, Cranial ...	OMIM:259720
Ovarian Fibroma	Odontogenic keratocysts of the jaw, Gonadal calcification, Abnormality of the ovary, Peritonitis,...	ORPHA:314473
Cherubism	Dental malocclusion, Narrow palate, Jaw swelling, Oligodontia, Macular scar, Alveolar ridge overg...	OMIM:118400
Craniosynostosis 2	Cleft soft palate, Supernumerary tooth, Unicoronal synostosis, Bicoronal synostosis, Craniosynost...	OMIM:604757
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paroxysmal atrial tachycardia, Megaloblastic anemia, Cardiac arrest, Congestive heart failure, Th...	ORPHA:49827
Marburg Hemorrhagic Fever	Hypotension, Reticulocytosis, Elevated circulating creatine kinase concentration, Pericarditis, S...	ORPHA:99826
Atrial Septal Defect 6	Bradycardia, Atrial fibrillation	OMIM:613087
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Contracture of the proximal interphalangeal joint of the 5th finger, Micrognathia, Bifid uvula, H...	ORPHA:293967
Lelis Syndrome	Furrowed tongue, Hypodontia, Carious teeth, Mandibular prognathia	ORPHA:140936
Primary Lipodystrophy	Type II diabetes mellitus, Polycystic ovaries, Menometrorrhagia, Pancreatitis	ORPHA:90970
Acrocallosal Syndrome	Everted upper lip vermilion, Bifid uvula, Abnormal oral frenulum morphology, Smooth philtrum, Cle...	OMIM:200990
Oculocerebrorenal Syndrome Of Lowe	Gingivitis, Delayed eruption of teeth, Micrognathia, Taurodontia, Everted lower lip vermilion, To...	ORPHA:534
Atrial Tachyarrhythmia With Short Pr Interval	Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a...	OMIM:108950
Congenital Disorder Of Glycosylation, Type It	Sudden cardiac death, Pulmonary arterial hypertension, Hepatitis, Dilated cardiomyopathy, Recurre...	OMIM:614921
Sick Sinus Syndrome 4	Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,...	OMIM:619464
Cardiac Arrhythmia, Ankyrin-B-Related	Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia	OMIM:600919
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Anterior h...	ORPHA:91351
Brugada Syndrome 6	Cardiac arrest, Ventricular fibrillation, ST segment elevation	OMIM:613119
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, High palate, Delayed eruption of teeth, Micrognathia, Microdontia, Supernu...	OMIM:268400
Eec Syndrome	Microdontia, Taurodontia, Tooth agenesis, Abnormal dental enamel morphology, Carious teeth, Cleft...	ORPHA:1896
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Hypertension	OMIM:613870
Hemochromatosis, Type 1	Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ame...	OMIM:235200
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Diaphyseal sclerosis, Craniofacial osteosclerosis, Tented upper lip...	OMIM:618476
Panhypophysitis	Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def...	ORPHA:95513
Andersen-Tawil Syndrome	Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia,...	ORPHA:37553
Gangliocytoma	Hyperhidrosis, Adrenocorticotropic hormone excess, Impotence, Decreased female libido, Pituitary ...	ORPHA:251937
Atrial Fibrillation, Familial, 7	Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval...	OMIM:612240
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Skin rash, Neutrophilia, Elevated circulating C-reactive protein concentration, Panniculitis, Inc...	OMIM:617099
Immunodeficiency 92	Osteomyelitis, B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Esophagitis, Cholangitis...	OMIM:619652
Cardiomyopathy, Dilated, 1S	Sudden cardiac death, Pulmonary arterial hypertension, Reduced left ventricular ejection fraction...	OMIM:613426
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Secondary ame...	ORPHA:572333
Hemorrhagic Fever-Renal Syndrome	Hypotension, Tubulointerstitial nephritis, Anemia, Increased circulating interleukin 6 concentrat...	ORPHA:340
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Orofaciodigital Syndrome Type 1	Lobulated tongue, Lip pit, High palate, Tongue nodules, Micrognathia, Broad alveolar ridges, Hypo...	ORPHA:2750
Cocaine Intoxication	Hypotension, Tubulointerstitial nephritis, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Ven...	ORPHA:90068
Juvenile Arthritis	Skin rash, Thrombocytosis, Leukocytosis	OMIM:618795
Ghosal Hematodiaphyseal Dysplasia	Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis	OMIM:231095
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Enamel hypoplasia, Joint contracture of the hand, Osteomalacia, Keloids,...	OMIM:309000
Rothmund-Thomson Syndrome Type 2	High palate, Abnormality of the dentition, Delayed eruption of teeth, Abnormal trabecular bone mo...	ORPHA:221016
Congenitally Uncorrected Transposition Of The Great Arteries	Left ventricular outflow tract obstruction, Abnormality of blood circulation, Cardiac shunt, Hear...	ORPHA:860
Schimmelpenning-Feuerstein-Mims Syndrome	Recurrent fractures, Abnormality of dental morphology, Hypophosphatemic rickets, Osteopenia, Abno...	OMIM:163200
Chand Syndrome	Bifid tongue, Commissural lip pit, Abnormal oral frenulum morphology, Agenesis of permanent teeth...	ORPHA:1401
Alstrom Syndrome	Irregular menstruation, Gingivitis, Hypothyroidism, Diabetes insipidus, Decreased response to gro...	OMIM:203800
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Neuroleptic Malignant Syndrome	Hypotension, Pulmonary embolism, Aspiration pneumonia, Hypertension, Elevated circulating creatin...	ORPHA:94093
Mercury Poisoning	Hypotension, Tachycardia, Interstitial pneumonitis, Hypertension	ORPHA:330021
Glanzmann Thrombasthenia	Menometrorrhagia, Gingival bleeding, Menorrhagia	ORPHA:849
Paragangliomas 1	Hypertension associated with pheochromocytoma, Palpitations, Tachycardia	OMIM:168000
Werner Syndrome	Chondrocalcinosis, Increased bone mineral density, Neoplasm of the oral cavity, Lipodystrophy, Li...	ORPHA:902
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Ventricular tachycardia, Syncope, Dilated cardiomyopathy	OMIM:615821
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia	OMIM:613239
Elsahy-Waters Syndrome	Dental malocclusion, Agenesis of incisor, Mandibular prognathia, High palate, Long philtrum, Dela...	OMIM:211380
Aromatase Deficiency	Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes mellitus, Female pseud...	ORPHA:91
Histiocytoid Cardiomyopathy	Supraventricular tachycardia, Right bundle branch block, Wolff-Parkinson-White syndrome, Congesti...	ORPHA:137675
Lacrimoauriculodentodigital Syndrome	Enamel hypoplasia, Arthritis, Micrognathia, Bifid uvula, Microdontia, Hypodontia, Abnormal dental...	ORPHA:2363
Familial Cold Autoinflammatory Syndrome 1	Conjunctivitis, Skin rash, Arthritis, Uveitis, Elevated circulating C-reactive protein concentrat...	OMIM:120100
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Pulmonary arterial hypertension, Conjunctivitis, Leukopenia, Anemia, Tricuspid regurgitation, Dec...	ORPHA:505248
Acrodysostosis 1 With Or Without Hormone Resistance	Irregular menstruation, Dental malocclusion, Mandibular prognathia, Elevated circulating thyroid-...	OMIM:101800
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Abnormal trabecular bone morphology, Microdontia, Finger symphalangism...	ORPHA:221008
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Dental malocclusion, High palate, Inguinal hernia, Cleft lip, Cleft p...	OMIM:603457
Congenital Fibrinogen Deficiency	Splenic rupture, Tachycardia, Internal hemorrhage	ORPHA:335
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Retinal hemorrhage, Acute myeloid leukemia, Abnormal ...	ORPHA:86839
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Abnormality of the menstrual cycle, Urinary blad...	ORPHA:556
Hereditary Coproporphyria	Anemia, Tachycardia	ORPHA:79273
Arrhythmogenic right ventricular dysplasia, familial, 2	Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy	OMIM:600996
Scorpion Envenomation	Myocarditis, T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST segme...	ORPHA:466677
Eisenmenger Syndrome	Brain abscess, Ventricular arrhythmia, Supraventricular arrhythmia, Angina pectoris, Palpitations...	ORPHA:97214
Ctcf-Related Neurodevelopmental Disorder	Long philtrum, Macrodontia of permanent maxillary central incisor, Microdontia, Short philtrum, T...	ORPHA:363611
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased serum testosterone level, Increased circulating cortisol level, Secondary amenorrhea, D...	OMIM:610489
Familial Osteodysplasia, Anderson Type	Increased susceptibility to fractures, Mandibular prognathia, Recurrent fractures, Abnormal corti...	ORPHA:2769
Cinca Syndrome	Anemia, Skin rash, Arthritis, Uveitis, Hepatosplenomegaly, Elevated circulating C-reactive protei...	OMIM:607115
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Torsade de pointes, Cardiac arrest, Elevated circulating creatine kinase concentration, Hypertrop...	OMIM:616878
Holoprosencephaly 9	Dental malocclusion, Agenesis of incisor, Cleft upper lip, Hypoplasia of the premaxilla, Short ph...	OMIM:610829
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Amelogenesis imperfecta	OMIM:248190
Tsh-Secreting Pituitary Adenoma	Enlarged pituitary gland, Impotence, Decreased female libido, Euthyroid hyperthyroxinemia, Increa...	ORPHA:91347
Stiff-Person Syndrome	Tachycardia, Anemia, Hypertension	OMIM:184850
Eosinophilic Gastroenteritis	Anemia, Allergic rhinitis, Elevated circulating C-reactive protein concentration, Eosinophilia, L...	ORPHA:2070
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Irregular menstruation, Hyperaldosteronism, Increased circulating cortisol level, Macronodular ad...	ORPHA:189427
Osteopetrosis And Infantile Neuroaxonal Dystrophy	Osteopetrosis	OMIM:600329
Ebstein Anomaly	Sudden cardiac death, Right bundle branch block, Atrial standstill, Ventricular preexcitation, At...	OMIM:224700
Paget Disease Of Bone 2, Early-Onset	Increased susceptibility to fractures, Osteolysis, Osteosclerosis of the ulna, Premature loss of ...	OMIM:602080
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Elevated creatine kinase after exercise, Ventricular tachycardia, Arrhythmia, Cardio...	ORPHA:159
Dyskeratosis Congenita, Autosomal Recessive 1	Carious teeth, Microdontia, Osteoporosis, Oral leukoplakia	OMIM:224230
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Premature ventricular contraction, Bacterial endocarditis, Heart block	ORPHA:1964
Paget Disease Of Bone 3	Osteolysis, Patchy osteosclerosis, Fractures of the long bones	OMIM:167250
Faciocardiomelic Syndrome	Thin bony cortex, Dental malocclusion, Long philtrum, Wide mouth, Micrognathia, Hyperplasia of th...	OMIM:612731
Diffuse Cutaneous Systemic Sclerosis	Carious teeth, Osteolysis, Flexion contracture, Arthritis	ORPHA:220393
Pseudo-Torch Syndrome 3	Lymphadenitis, Anemia, Cerebral hemorrhage, Hypertension, Increased circulating ferritin concentr...	OMIM:618886
Rubinstein-Taybi Syndrome 1	Retrognathia, Enamel hypoplasia, Dental malocclusion, Flexion contracture, High palate, Narrow pa...	OMIM:180849
Primary Pigmented Nodular Adrenocortical Disease	Irregular menstruation, Increased circulating cortisol level, Type II diabetes mellitus, Decrease...	ORPHA:189439
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Metacarpal periosteal thickening, Calvarial osteosclerosis	OMIM:617994
Malignant Hyperthermia Of Anesthesia	Supraventricular tachycardia, Elevated creatine kinase after exercise, Premature ventricular cont...	ORPHA:423
Peripheral Primitive Neuroectodermal Tumor	Precocious puberty, Neoplasm of the pancreas, Neoplasm of the scrotum, Metrorrhagia, Uterine neop...	ORPHA:370348
Symptomatic Form Of Hemochromatosis Type 1	Hypothyroidism, Arthritis, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mellit...	ORPHA:465508
Congenital Enterovirus Infection	Hypotension, Leukopenia, Anemia, Neutropenia, Abnormal macrophage morphology, Hepatitis, Skin ras...	ORPHA:292
Brugada Syndrome 5	Bundle branch block, Ventricular fibrillation, ST segment elevation	OMIM:612838
Focal Dermal Hypoplasia	Camptodactyly of finger, Abnormal adipose tissue morphology, Hernia, Abnormality of dental morpho...	ORPHA:2092
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Carious teeth, Dental malocclusion, Microretrognathia	OMIM:615560
Osteopetrosis With Renal Tubular Acidosis	Retrognathia, Tooth malposition, Prominence of the zygomatic bone, Recurrent fractures, High pala...	ORPHA:2785
Kindler Epidermolysis Bullosa	Camptodactyly of finger, Gingivitis, Flexion contracture, Periodontitis, Premature loss of primar...	ORPHA:2908
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Skin rash, Dilated cardiomyopathy, Pancytopenia	OMIM:618321
Hyperthyroidism, Nonautoimmune	Increased circulating thyroglobulin level, Tachycardia	OMIM:609152
Non-Acquired Panhypopituitarism	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ...	ORPHA:90695
Cockayne Syndrome Type 3	Carious teeth, Enamel hypoplasia, Flexion contracture	ORPHA:90324
Atrial Septal Defect, Coronary Sinus Type	Pulmonary arterial hypertension, Systolic heart murmur, Unroofed coronary sinus, Transient ischem...	ORPHA:99104
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Delayed eruption of teeth, Premature loss of primary teeth, Osteopetrosis, C...	ORPHA:667
Sheehan Syndrome	Abnormal size of pituitary gland, Gonadotropin deficiency, Impotence, Decreased serum estradiol, ...	ORPHA:91355
16P12.1P12.3 Triplication Syndrome	Tachycardia	ORPHA:485405
Majeed Syndrome	Increased susceptibility to fractures, Flexion contracture, Osteomyelitis, Increased bone mineral...	ORPHA:77297
Pheochromocytoma	Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten...	OMIM:171300
Severe Generalized Junctional Epidermolysis Bullosa	Erosion of oral mucosa, Enamel hypoplasia, Abnormal oral mucosa morphology, Osteoporosis	ORPHA:79404
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Premature atrial contractions, Heart block, Supraventricular tach...	ORPHA:216694
Adult-Onset Still Disease	Hepatitis, Skin rash, Arthritis, Neutrophilia, Pericarditis, Elevated circulating C-reactive prot...	ORPHA:829
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease...	ORPHA:95699
Incontinentia Pigmenti	Camptodactyly of finger, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology,...	ORPHA:464
Cockayne Syndrome	Enamel hypoplasia, Dental malocclusion, Contractures of the large joints, Abnormal number of teet...	ORPHA:191
Stickler Syndrome	Cleft upper lip, Long philtrum, Micrognathia, Advanced eruption of teeth, Macroglossia, Hypoplasi...	ORPHA:828
Psoriasis 14, Pustular	Oligoarthritis, Neutrophilia, Cholangitis, Pustule, Elevated circulating C-reactive protein conce...	OMIM:614204
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Ven...	OMIM:300952
Ethylene Glycol Poisoning	Hypotension, Hypertension, Congestive heart failure, Shock, Prolonged QT interval, Gastritis, Tac...	ORPHA:31826
Vulvovaginitis, Allergic Seminal	Vaginitis	OMIM:193450
Burkitt Lymphoma	Abnormality of the ovary, Neoplasm of the oral cavity	ORPHA:543
Congenital Factor V Deficiency	Metrorrhagia, Gingival bleeding, Menorrhagia	ORPHA:326
Cockayne Syndrome B	Dental malocclusion, Mandibular prognathia, Delayed eruption of primary teeth, Reduced subcutaneo...	OMIM:133540
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the uterus, Hypoparathyroidism, Primary amenorrhea, Septate vagina, Aplasia of the vag...	OMIM:146255
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	OMIM:229700
Tuberous Sclerosis 1	Dental enamel pits, Gingival fibromatosis, Shagreen patch	OMIM:191100
Carney Triad	Anemia, Hypertension, Gastrointestinal hemorrhage, Arrhythmia, Tachycardia	ORPHA:139411
Lacrimoauriculodentodigital Syndrome 1	Enamel hypoplasia, Delayed eruption of primary teeth, Microdontia, Absence of Stensen duct, Hypod...	OMIM:149730
Pituitary Apoplexy	Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t...	ORPHA:95613
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft mandible, Pierre-Robin sequence, High palate, Micrognathia, Cleft lower alveolar ridge, Bif...	OMIM:268305
Leukocyte Adhesion Deficiency, Type Iii	Anemia, Hepatosplenomegaly, Epistaxis, Leukocytosis, Extramedullary hematopoiesis, Recurrent skin...	OMIM:612840
Doors Syndrome	Sagittal craniosynostosis, High palate, Long philtrum, Narrow palate, Widely spaced teeth, Thick ...	ORPHA:79500
Limb-Mammary Syndrome	Hypohidrosis, Aplasia of the ovary, Hypodontia, Bifid uvula, Absent nipple, Breast aplasia, Hypop...	ORPHA:69085
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental malocclusion, Talon cusp, Narrow palate, Natal tooth, Keloids, Hypodontia, Supernumerary t...	ORPHA:353281
Autosomal Dominant Kenny-Caffey Syndrome	Calvarial osteosclerosis, Cortical thickening of long bone diaphyses, Persistence of primary teet...	ORPHA:93325
Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia	ORPHA:263455
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Irregular menstruation, Delayed puberty, Polycystic ovaries, Oligomenorrhea, Dysmenorrhea	ORPHA:370
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,...	OMIM:112250
Wolfram Syndrome 2	Primary amenorrhea, Diabetes mellitus, Oligomenorrhea	OMIM:604928
Focal Dermal Hypoplasia	Enamel hypoplasia, Dental malocclusion, Cleft upper lip, Delayed eruption of teeth, Hypodontia, O...	OMIM:305600
Wilson Disease	Hepatitis, Arthritis, Acute hepatitis, Abnormality of the menstrual cycle	ORPHA:905
Absence Of The Pulmonary Artery	Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ejection fractio...	ORPHA:980
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Splenomegaly, Leukocytosis, Decreased circulating antibo...	OMIM:618042
Cholera	Hypotension, Hypovolemic shock, Aspiration pneumonia, Tachycardia	ORPHA:173
Double Outlet Right Ventricle	Tachycardia, Pulmonic stenosis, Heart murmur	ORPHA:3426
Tetragametic Chimerism	Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin...	ORPHA:199310
Hemophilia B	Menometrorrhagia	ORPHA:98879
Arboleda-Tham Syndrome	Mandibular prognathia, Wide mouth, Short philtrum, Peg-shaped maxillary lateral incisors, Microre...	OMIM:616268
Bardet-Biedl Syndrome 1	High palate, Hypogonadism, Decreased testicular size, Hypodontia, Abnormality of the ovary, Nephr...	OMIM:209900
Klippel-Trénaunay Syndrome	Abnormality of the menstrual cycle	ORPHA:90308
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Eczema, Recurrent sinusitis, Hepatosplenomegaly, Panniculitis, Splenomegaly, Skin rash, Arthritis...	OMIM:615688
Porphyria Variegata	Tachycardia, Anemia, Hypertension	ORPHA:79473
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie...	OMIM:601376
Singleton-Merten Syndrome 1	Osteolytic defects of the phalanges of the hand, Eruption failure, Hypoplasia of the maxilla, Thi...	OMIM:182250
Renal Nutcracker Syndrome	Orthostatic hypotension, Anemia, Syncope, Tachycardia	ORPHA:71273
Autoimmune Hypoparathyroidism	Increased bone mineral density	ORPHA:36913
H Syndrome	Cleft upper lip, Hypogonadism, Bronchiectasis, Decreased testicular size, Azoospermia, Chronic rh...	ORPHA:168569
Serotonin Syndrome	Hypotension, Tachycardia, Hypertension	ORPHA:43116
Cogan Syndrome	Conjunctivitis, Anemia, Scleritis, Large vessel vasculitis, Inflammatory abnormality of the eye, ...	ORPHA:1467
Porphyria, Acute Intermittent	Tachycardia, Hypertension	OMIM:176000
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Flexion contracture, Cleft soft palate, Delayed eruption of teeth, Micrognathia, Elbow flexion co...	OMIM:619503
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis	OMIM:615085
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Dysmenorrhea, Polycystic ovaries, Oligomenorrhea	ORPHA:79240
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Lymphadenitis, Anemia, Congestive heart failure, Dilated cardiomyopathy, Elevated circulating cre...	OMIM:615895
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome	ORPHA:542306
Peters-Plus Syndrome	Cleft upper lip, Limited elbow movement, Long philtrum, Widely spaced teeth, Short lingual frenul...	OMIM:261540
Plague	Hypotension, Lymphadenitis, Endocarditis, Splenomegaly, Enterocolitis, Erythema nodosum, Skin ras...	ORPHA:707
Cardiomyopathy, Familial Hypertrophic, 4	Sudden cardiac death, Right bundle branch block, Reduced left ventricular ejection fraction, Tran...	OMIM:115197
Pituitary Adenoma 4, Acth-Secreting	Increased circulating ACTH level, Pituitary adenoma, Oligomenorrhea	OMIM:219090
Turnpenny-Fry Syndrome	Dental malocclusion, Mandibular prognathia, High palate, Widely spaced teeth, Microdontia, Dental...	OMIM:618371
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Irregular menstruation, Gingivitis, Oral ulcer, Hypothyroidism, Enterocolitis, Periodontitis, Thy...	ORPHA:79259
Hermansky-Pudlak Syndrome 5	Metrorrhagia, Menorrhagia	OMIM:614074
Gaucher Disease	Osteomyelitis, Recurrent fractures, Increased bone mineral density, Osteolysis, Osteopenia, Abnor...	ORPHA:355
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Premature ventricular contraction, Elevated circulating creatine kinase concentration	OMIM:617072
Cardiac Diverticulum	Endocarditis, Abnormal EKG, Mitral stenosis, Syncope, Angina pectoris, Congestive heart failure, ...	ORPHA:1686
Paragangliomas 4	Hypertension associated with pheochromocytoma, Palpitations, Tachycardia	OMIM:115310
Amoebiasis Due To Entamoeba Histolytica	Anemia, Liver abscess, Congestive heart failure, Lung abscess, Constrictive pericarditis, Leukocy...	ORPHA:67
Gitelman Syndrome	Hypotension, Increased circulating renin level, Prolonged QT interval, Ventricular tachycardia, P...	OMIM:263800
Atypical Werner Syndrome	Osteolytic defects of the phalanges of the hand, Lipoatrophy, Increased bone mineral density, Mic...	ORPHA:79474
Combined Pituitary Hormone Deficiencies, Genetic Forms	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ...	ORPHA:95494
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology	ORPHA:79430
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	ORPHA:348
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Bradycardia, Hypertension, Tachycardia	OMIM:614653
Proximal Renal Tubular Acidosis	Enamel hypomineralization, Reduced bone mineral density	ORPHA:47159
Bloom Syndrome	Decreased fertility in females, Malar rash, Bronchiectasis, Agenesis of maxillary lateral incisor...	OMIM:210900
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel...	ORPHA:521
Necrotizing Enterocolitis	Hypotension, Shock, Thrombocytopenia, Leukocytosis, Peritonitis, Neutropenia, Bradycardia	ORPHA:391673
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental malocclusion, Talon cusp, High palate, Narrow palate, Natal tooth, Keloids, Hypodontia, Mi...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental malocclusion, Talon cusp, High palate, Narrow palate, Natal tooth, Keloids, Hypodontia, Mi...	ORPHA:353277
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Elevated circulating c...	ORPHA:98855
Somatomammotropinoma	Hyperhidrosis, Broad jaw, Mandibular prognathia, Increased circulating prolactin concentration, I...	ORPHA:314769
Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Elevated circulating c...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Elevated circulating c...	ORPHA:98853
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Hypertension	OMIM:223900
Mirizzi Syndrome	Pancreatitis, Tachycardia	ORPHA:521219
Brucellosis	Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Thr...	ORPHA:1304
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Conjunctivitis, Skin rash, Fasciitis, Arthritis, Uveitis, Erysipelas, Pericarditis, Myositis, Ele...	ORPHA:32960
Poems Syndrome	Lipodystrophy, Sclerosis of foot bone, Sclerosis of skull base, Sclerosis of hand bone	ORPHA:2905
Familial Mediterranean Fever	Crohn's disease, Arthritis, Neutrophilia, Erysipelas, Pericarditis, Elevated circulating C-reacti...	OMIM:249100
Williams Syndrome	Increased bone mineral density, Microdontia, Micrognathia, Everted lower lip vermilion, Gingival ...	ORPHA:904
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Elevated circulating creatine kinase concentration, Hypertrophic ca...	OMIM:618775
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Left bundle branch block, Ventricular bigeminy, Elevated circulating creatine kinase ...	OMIM:610131
Aregenerative Anemia	Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni...	ORPHA:101096
X-Linked Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Supraventricular arrhythmia, Elevated circulating creatine kinase concentra...	ORPHA:98863
Multiple Endocrine Neoplasia Type 1	Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Impotence, Neoplasm of ...	ORPHA:652
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Pulmonic stenosis, Paroxysmal supraventricular tachycardia, Arrhythmia	OMIM:617877
Familial Dysautonomia	Orthostatic hypotension, Tachycardia, Hypertension	ORPHA:1764
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis	OMIM:618541
Smith-Lemli-Opitz Syndrome	Bifid tongue, Long philtrum, Wide mouth, Micrognathia, Advanced eruption of teeth, Abnormality of...	ORPHA:818
Hereditary Chronic Pancreatitis	Recurrent pancreatitis, Elevated circulating C-reactive protein concentration, Leukocytosis	ORPHA:676
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ...	OMIM:300908
Pyomyositis	Sudden cardiac death, Myositis, Leukocytosis, Recurrent cutaneous abscess formation	ORPHA:764
Meningioma	Enlarged pituitary gland, Neoplasm of the tongue, Increased circulating prolactin concentration, ...	ORPHA:2495
Cushing Disease	Recurrent cutaneous fungal infections, Pituitary corticotropic cell adenoma, Increased urinary co...	ORPHA:96253
Tatton-Brown-Rahman Syndrome	Supraventricular tachycardia with an accessory connection mediated pathway, Mitral regurgitation,...	ORPHA:404443
Tetrasomy 9P	Abnormal number of permanent teeth, High palate, Arthritis, Micrognathia, Bifid uvula, Dental cro...	ORPHA:3310
Ectodermal Dysplasia-Skin Fragility Syndrome	Abnormality of dental morphology, Scarring, Abnormal tongue morphology, Carious teeth, Chapped li...	ORPHA:158668
Familial Adenomatous Polyposis	Eruption failure, Odontoma, Supernumerary tooth, Lipoma, Abnormal cementum morphology, Abnormalit...	ORPHA:733
Acute Intermittent Porphyria	Tachycardia, Hypertension	ORPHA:79276
22Q11.2 Deletion Syndrome	Long philtrum, Abnormality of the dentition, Arthritis, Micrognathia, Short philtrum, Inguinal he...	ORPHA:567
Yellow Fever	Increased circulating interleukin 6 concentration, Reduced left ventricular ejection fraction, Sk...	ORPHA:99829
Sarcoidosis	Tubulointerstitial nephritis, Leukopenia, Anemia, Abnormal cardiac ventricular function, Hemolyti...	ORPHA:797
Turner Syndrome Due To Structural X Chromosome Anomalies	Gonadoblastoma, Micrognathia, Increased circulating gonadotropin level, Primary amenorrhea, Prema...	ORPHA:99413
Mosaic Monosomy X	Gonadoblastoma, Micrognathia, Increased circulating gonadotropin level, Primary amenorrhea, Prema...	ORPHA:99228
Monosomy X	Gonadoblastoma, Micrognathia, Increased circulating gonadotropin level, Primary amenorrhea, Prema...	ORPHA:99226
Turner Syndrome	Gonadoblastoma, Micrognathia, Increased circulating gonadotropin level, Primary amenorrhea, Prema...	ORPHA:881
Saethre-Chotzen Syndrome	Narrow palate, Coronal craniosynostosis, Radioulnar synostosis, Hypoplasia of the maxilla, Cleft ...	OMIM:101400
Chilton-Okur-Chung Neurodevelopmental Syndrome	Agenesis of incisor, Mandibular prognathia, Wide mouth, Widely spaced teeth, Micrognathia, Ankylo...	OMIM:619841
Ogden Syndrome	Pulmonary arterial hypertension, Torsade de pointes, Supraventricular tachycardia, Eczema, Premat...	OMIM:300855
Leukocyte Adhesion Deficiency	Conjunctivitis, Gingivitis, Recurrent aphthous stomatitis, Osteomyelitis, Perianal abscess, Bronc...	ORPHA:2968
Degcags Syndrome	Pulmonary arterial hypertension, Leukopenia, Anemia, Rhinitis, Pulmonic stenosis, Abnormal spleen...	OMIM:619488
Wiskott-Aldrich Syndrome	Conjunctivitis, Hypoplasia of the thymus, Arthritis, Abnormality of the menstrual cycle, Eczema, ...	ORPHA:906
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Splenomegaly, Ventricular arrhythmia, Supraventricular arrhythmia, Congestive heart failure, Hype...	ORPHA:280365
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis	ORPHA:35687
Leukocyte Adhesion Deficiency, Type I	Osteomyelitis, Periodontitis, Chronic mucocutaneous candidiasis, Rectal abscess, Elevated circula...	OMIM:116920
Cushing Syndrome Due To Ectopic Acth Secretion	Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoid tumor, Adrenal hyperplasia, Pa...	ORPHA:99889
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve...	OMIM:608203
Microphthalmia With Linear Skin Defects Syndrome	Retrognathia, Mandibular aplasia, Micrognathia, Congenital diaphragmatic hernia, Abnormal dental ...	ORPHA:2556
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Left axis deviati...	OMIM:261740
Hypermobile Ehlers-Danlos Syndrome	Decreased fertility, Gingivitis, Microdontia, Keratoconjunctivitis sicca, Abnormality of the mens...	ORPHA:285
Lymphatic Filariasis	Vaginal hydrocele, Lymphadenitis, Abnormality of the scrotum, Hydrocele testis, Epididymitis, Glo...	ORPHA:2035
Gaucher Disease Type 3	Increased bone mineral density, Osteolysis, Increased susceptibility to fractures	ORPHA:77261
Pallister-Killian Syndrome	Enamel hypoplasia, Flexion contracture, Long philtrum, Wide mouth, Delayed eruption of teeth, Mic...	OMIM:601803
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Osteopetrosis	ORPHA:3240
Familial Mediterranean Fever	Skin rash, Arthritis, Erysipelas, Pericarditis, Oral leukoplakia, Orchitis, Peritonitis, Pancreat...	ORPHA:342
Kenny-Caffey Syndrome, Type 2	Thickened cortex of long bones, Increased bone mineral density	OMIM:127000
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Macroglossia, Thickened cortex of long bones, Malar flattening, ...	OMIM:269150
Hyperoxaluria, Primary, Type I	Increased bone mineral density, Pathologic fracture	OMIM:259900
Proteus Syndrome	Abnormal subcutaneous fat tissue distribution, Carious teeth, Hyperostosis, Tooth agenesis, Lipom...	ORPHA:744
Igg4-Related Ophthalmic Disease	Abnormality of the anterior pituitary, Sialadenitis, Abnormality of the sphenoid sinus, Prostatit...	ORPHA:449563
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Recurrent otitis media	ORPHA:1772
Kawasaki Disease	Conjunctivitis, Hepatitis, Skin rash, Arthritis, Congestive heart failure, Pericarditis, Cholecys...	ORPHA:2331
Autosomal Dominant Progressive External Ophthalmoplegia	Reduced left ventricular ejection fraction, Ventricular arrhythmia, Dilated cardiomyopathy, Eleva...	ORPHA:254892
Behçet Disease	Endocarditis, Oral ulcer, Recurrent aphthous stomatitis, Arthritis, Keratoconjunctivitis sicca, P...	ORPHA:117
Immunoglobulin A Vasculitis	Arthritis, Skin rash, Pustule, Episcleritis, Infectious encephalitis, Orchitis	ORPHA:761
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Camptodactyly of finger, Inguinal hernia, Omphalocele, Cheilitis, Abnormal dental enamel morphology	ORPHA:2273
African Trypanosomiasis	Conjunctivitis, Myocarditis, Myelitis, Impotence, Abnormality of circulating cortisol level, Irit...	ORPHA:3385
Truncus Arteriosus	Hypoplasia of the thymus, Aortic regurgitation, Tachycardia, Abnormal heart valve physiology, Pul...	ORPHA:3384
Postinfectious Vasculitis	Bacterial endocarditis, Inflammatory abnormality of the skin, Arthritis, Gastrointestinal inflamm...	ORPHA:48435
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Aortic regurgitation, Premature ventricular contraction, Shortened PR i...	OMIM:620066
Angioosteohypertrophic Syndrome	Abnormality of the menstrual cycle	ORPHA:2346
Scalp-Ear-Nipple Syndrome	Hypertension, Supraventricular tachycardia, Pyelonephritis, Congestive heart failure	OMIM:181270
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Osteopetrosis	OMIM:612301
Branchiooculofacial Syndrome	Fusion of middle ear ossicles, Cleft upper lip, Lower lip pit, Micrognathia, Elbow flexion contra...	OMIM:113620
Johanson-Blizzard Syndrome	Hypoplasia of the primary teeth, Joint laxity, Agenesis of permanent teeth	OMIM:243800
Steinert Myotonic Dystrophy	Supraventricular tachycardia, Dilated cardiomyopathy, Cardiac conduction abnormality, Left ventri...	ORPHA:273
Microphthalmia, Syndromic 1	Cleft upper lip, Tooth malposition, High palate, Joint contracture of the hand, Agenesis of maxil...	OMIM:309800
Cardiac-Urogenital Syndrome	Accessory spleen, Tachycardia	OMIM:618280
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	OMIM:309801
Congenital Total Pulmonary Venous Return Anomaly	Pulmonary arterial hypertension, Right ventricular failure, Mitral regurgitation, Low-output cong...	ORPHA:99125
Marshall-Smith Syndrome	Pulmonary arterial hypertension, Aspiration pneumonia, Recurrent aspiration pneumonia, Hypertensi...	OMIM:602535
Legius Syndrome	Acute monocytic leukemia, Paroxysmal atrial tachycardia, Pulmonic stenosis	ORPHA:137605

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.

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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, Tissue
Grem2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

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