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Gene: Rps6ka3 MGI:104557

Gene Summary

Name:

ribosomal protein S6 kinase polypeptide 3

Synonyms:

Rsk2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

No results meet the p-value threshold

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Rps6ka3 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 Rps6ka3 (4 diseases)
Human diseases predicted to be associated with Rps6ka3 (1275 diseases)

The table below shows human diseases associated to Rps6ka3 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Coffin-Lowry Syndrome	Abnormal form of the vertebral bodies, Everted lower lip vermilion, Short metacarpal, Kyphosis, M...	ORPHA:192
Coffin-Lowry Syndrome	Everted lower lip vermilion, Short metacarpal, Kyphosis, Microcephaly, Delayed closure of the ant...	OMIM:303600
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Oligodontia, Scoliosis, Everted lower lip vermilion, Kyphosis, Anodontia, Tapered finger	ORPHA:276630
Intellectual Developmental Disorder, X-Linked 19	Kyphoscoliosis, Thick lower lip vermilion, Dental crowding, Scoliosis, Everted lower lip vermilion	OMIM:300844

The table below shows human diseases predicted to be associated to Rps6ka3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Oocyte/Zygote/Embryo Maturation Arrest 16	Infertility	OMIM:617234
Nondisjunction	Decreased fertility	OMIM:158250
Spermatogenic Failure 17	Male infertility	OMIM:617214
Florid Cemento-Osseous Dysplasia	Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm...	ORPHA:83451
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility	ORPHA:488191
Dysosteosclerosis	Abnormal metaphysis morphology, Macrocephaly, Craniofacial hyperostosis, Delayed eruption of teet...	ORPHA:1782
Cleidocranial Dysplasia 2	Osteopenia, Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Wide anterior font...	OMIM:620099
Dysosteosclerosis	Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fon...	OMIM:224300
Trichodentoosseous Syndrome	Increased bone mineral density, Widely spaced teeth, Microdontia, Taurodontia	OMIM:190320
Type 2 Diabetes Mellitus	Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus	OMIM:125853
Cleidocranial Dysplasia	Glossoptosis, Decreased skull ossification, Sinusitis, Abnormal epiphysis morphology, Abnormal sa...	ORPHA:1452
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Genu valgum, Cubitus valgus, Delayed erupt...	OMIM:265900
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Delayed puberty, Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1	ORPHA:140941
Metaphyseal Chondrodysplasia, Spahr Type	Abnormal metaphysis morphology, Reduced bone mineral density, Scoliosis, Hyperlordosis, Abnormali...	ORPHA:2501
Anonychia-Microcephaly Syndrome	Microcephaly, Carious teeth, Clinodactyly of the 5th finger, Abnormality of the dentition	ORPHA:1094
Cranioectodermal Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Jo...	ORPHA:1515
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Dentin Dysplasia, Type I	Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite...	OMIM:125400
Multiple Symmetric Lipomatosis	Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology, Paresthesia	ORPHA:2398
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Amelogenesis Imperfecta	Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati...	ORPHA:88661
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Supernumerary tooth, Short finger, Cone-shaped epiphyses of the middle phalanges of t...	OMIM:190351
Endometriosis, Susceptibility To, 1	Dysmenorrhea, Decreased fertility, Endometriosis	OMIM:131200
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat...	OMIM:609968
Holoprosencephaly, Semilobar, With Craniosynostosis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplastic vertebral bodies, Short distal...	OMIM:601370
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ...	ORPHA:263458
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Abnormal dental enamel mor...	ORPHA:2916
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli...	ORPHA:411593
Fibrodysplasia Ossificans Progressiva	Abnormality of the first metatarsal bone, Widely spaced teeth, Clinodactyly of the 5th finger, Sh...	OMIM:135100
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ...	OMIM:610021
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Macrocephaly, Flared metaphysis, Wide anterior fontanel, Mesomelic/r...	ORPHA:2347
Spinal Dysplasia, Anhalt Type	Narrow anterio-posterior vertebral body diameter, Coxa vara, Thoracolumbar scoliosis, Thoracic he...	OMIM:601344
Tricho-Dento-Osseous Syndrome	Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Increased bone mineral densit...	ORPHA:3352
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo...	OMIM:256450
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Retrognathia, Small epiphyses, Scoliosis, Short long bone, Glossoptosis, Knee dislocation, Lumbar...	OMIM:620269
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 87	Male infertility, Ruffled acrosome	OMIM:620500
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Supernumerary tooth, Limitation of joint mobility, Carious teeth, Micrognathia, Hypoplasia of the...	ORPHA:3145
Plin1-Related Familial Partial Lipodystrophy	Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Abnormal circulating ...	ORPHA:280356
Craniosynostosis 2	Supernumerary tooth, Triphalangeal thumb, Unicoronal synostosis, Cleft soft palate, Bicoronal syn...	OMIM:604757
Otodental Dysplasia	Agenesis of premolar, Delayed eruption of teeth, Enamel hypoplasia, Long philtrum, Tooth ankylosi...	OMIM:166750
Oligodontia	Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age...	ORPHA:99798
Craniometadiaphyseal Dysplasia	Osteopenia, Macrocephaly, Genu valgum, Cubitus valgus, Flared metaphysis, Wide anterior fontanel,...	OMIM:269300
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati...	OMIM:601820
Spermatogenic Failure 62	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 88	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:620547
Angel-Shaped Phalango-Epiphyseal Dysplasia	Short 1st metacarpal, Hip osteoarthritis, Delayed eruption of teeth, Short middle phalanx of the ...	ORPHA:63442
Brachydactyly, Type B1	Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti...	OMIM:113000
Amelogenesis Imperfecta, Type Ia	Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia	OMIM:104530
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Eiken Syndrome	Metaphyseal irregularity, Abnormal bone ossification, Fibular hypoplasia, Cubitus valgus, Delayed...	ORPHA:79106
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility	OMIM:136580
Spermatogenic Failure 20	Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Opsismodysplasia	Abnormal metaphysis morphology, Large fontanelles, Squared iliac bones, Hypoplastic pubic bone, A...	ORPHA:2746
Tricho-Retino-Dento-Digital Syndrome	Supernumerary tooth, Oligodontia, Abnormality of the dentition, Brachydactyly, Short 5th metacarpal	ORPHA:1264
Spermatogenic Failure 12	Infertility, Azoospermia	OMIM:615413
Congenital Glucokinase-Related Hyperinsulinism	Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp...	ORPHA:79299
Trichorhinophalangeal Syndrome Type 2	Supernumerary tooth, Abnormal palate morphology, Genu valgum, Joint hypermobility, Cone-shaped ep...	ORPHA:502
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle	OMIM:619011
Osteogenesis Imperfecta, Type V	Osteopenia, Anterior radial head dislocation, Platyspondyly, Vertebral wedging, Hyperextensibilit...	OMIM:610967
Cleidocranial Dysplasia 1	Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p...	OMIM:119600
Tooth Agenesis, Selective, 9	Selective tooth agenesis, Microdontia, Taurodontia	OMIM:617275
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Tooth Agenesis, Selective, 7	Agenesis of permanent teeth, Taurodontia	OMIM:616724
Trichorhinophalangeal Syndrome Type 1	Supernumerary tooth, Clinodactyly of the 5th finger, Short metatarsal, Long upper lip, Hyperlordo...	ORPHA:77258
Acrofacial Dysostosis, Palagonia Type	Supernumerary tooth, High, narrow palate, Short 4th metacarpal, Spina bifida occulta, Abnormal fo...	ORPHA:1787
Pseudoachondroplasia	Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of...	ORPHA:750
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr...	ORPHA:171706
Spondyloepimetaphyseal Dysplasia, Shohat Type	Narrow greater sciatic notch, Platyspondyly, Vertebral compression fracture, Delayed epiphyseal o...	OMIM:602557
Odontochondrodysplasia 1	Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Delayed ossificati...	OMIM:184260
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Supernumerary tooth, Agenesis of molar, Bicoronal synostosis, Scoliosis, Microdontia,...	OMIM:619718
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Short philtrum, Delayed eruption of teeth, Osteoporosis, Dentinogenesis imperfecta, Platyspondyly...	ORPHA:71267
Acrodysostosis 1 With Or Without Hormone Resistance	Short metatarsal, Delayed eruption of teeth, Epiphyseal stippling, Cone-shaped epiphyses of the p...	OMIM:101800
Spondyloepimetaphyseal Dysplasia, Shohat Type	Generalized bone demineralization, Short long bone, Hyperlordosis, Metaphyseal irregularity, Abno...	ORPHA:93352
Richieri Costa-Da Silva Syndrome	Kyphoscoliosis, Beaking of vertebral bodies, Genu valgum, Generalized bone demineralization, Vert...	ORPHA:3101
Diastrophic Dysplasia	Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy...	ORPHA:628
Diastrophic Dysplasia	Kyphoscoliosis, Short finger, Genu valgum, Irregular epiphyses, Hitchhiker thumb, Scoliosis, Shor...	OMIM:222600
Ackerman Syndrome	Broad philtrum, Taurodontia	OMIM:200970
Spermatogenic Failure 35	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f...	OMIM:618341
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Short tubular bones of the hand, Macrocephaly, Abnormal diaphysis morphology, Obtuse ...	ORPHA:85184
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper...	OMIM:620354
Otodental Syndrome	Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodontitis, Abnormal d...	ORPHA:2791
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia	OMIM:240800
Greenberg Dysplasia	Retrognathia, Short long bone, Short ribs, Decreased skull ossification, Short metacarpal, Multip...	OMIM:215140
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Memory impairment, Cognitive impairment, Obesity, Attention deficit hyperactivi...	ORPHA:369873
Metatropic Dysplasia	Abnormal metaphysis morphology, Abnormal cortical bone morphology, Clinodactyly of the 5th finger...	ORPHA:2635
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia...	ORPHA:293964
Spermatogenic Failure 1	Male infertility, Oligozoospermia, Cryptozoospermia	OMIM:258150
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Spermatogenic Failure 5	Male infertility, Macrozoospermia, Multiflagellar spermatozoa	OMIM:243060
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Kyphoscoliosis, Short long bone, Hyperlordosis, Tooth agenesis, Flattened epiphysis, Joint hyperm...	OMIM:618363
Obesity Due To Melanocortin 4 Receptor Deficiency	Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Obesity, Type II dia...	ORPHA:71529
Rhizomelic Syndrome	Rhizomelia, Wide anterior fontanel, Microcephaly, Micrognathia, Bifid distal phalanx of the thumb...	OMIM:268250
Hip Dysplasia, Beukes Type	Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Hip dysplasia, Kyphos...	ORPHA:2114
Rhizomelic Syndrome, Urbach Type	Triphalangeal thumb, Rhizomelia, Abnormality of the elbow, Abnormal form of the vertebral bodies,...	ORPHA:3098
Spermatogenic Failure 43	Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:617592
Spermatogenic Failure 82	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619094
Morbid Obesity And Spermatogenic Failure	Azoospermia, Infertility, Oligozoospermia, Obesity, Type II diabetes mellitus, Insulin resistance	OMIM:615703
Spermatogenic Failure 22	Male infertility, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617706
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Wormian bones, Osteoporosis, Short distal phalanx of finger, Brachydactyly, Joint hypermobility	ORPHA:2787
Brachyolmia Type 1, Hobaek Type	Osteopenia, Short iliac bones, Squared-off platyspondyly, Lumbar hypolordosis, Platyspondyly, Int...	OMIM:271530
Acrootoocular Syndrome	Kyphoscoliosis, Supernumerary tooth, Grayish enamel, High, narrow palate, Short finger, Sandal ga...	ORPHA:2980
Regional Odontodysplasia	Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de...	ORPHA:83450
Short Stature, Dauber-Argente Type	Osteopenia, Reduced bone mineral density, Delayed eruption of teeth, Microcephaly, Arachnodactyly...	OMIM:619489
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Osteogenesis Imperfecta, Type Xxii	Reduced bone mineral density, Slender long bone, Bowing of the long bones, Multiple small vertebr...	OMIM:619795
Orofaciodigital Syndrome Type 5	Supernumerary tooth, High, narrow palate, Absent cupid's bow, Agenesis of canine, Cleft soft pala...	ORPHA:2919
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,...	OMIM:147630
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short long bone, Short ribs, Dumbbell-shaped long bone, Hypoplastic...	OMIM:228520
Spermatogenic Failure 79	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility	OMIM:620196
Spermatogenic Failure 7	Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility	OMIM:612997
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormality of cranial sutures, Abnormal bone ossification, Flat acetabular roof, Wide proximal f...	ORPHA:163649
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr...	OMIM:606762
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Scoliosis, Hypermobility of i...	OMIM:613849
Zimmermann-Laband Syndrome	Supernumerary tooth, Gingival fibromatosis, Anterior open-bite malocclusion, High palate, Overtub...	ORPHA:3473
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure...	ORPHA:99886
Spermatogenic Failure 11	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:614822
Lowry-Maclean Syndrome	Microcephaly, Craniosynostosis, Cleft palate, Delayed eruption of teeth	OMIM:600252
Lipodystrophy, Familial Partial, Type 3	Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneous adipose tissue, Loss of subcuta...	OMIM:604367
Obesity Due To Prohormone Convertase I Deficiency	Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy...	ORPHA:71526
Spermatogenic Failure 33	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618152
Spermatogenic Failure 37	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:617576
Spermatogenic Failure 46	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:619095
Spermatogenic Failure 27	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:617965
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Hyperinsulinemia	OMIM:606528
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Wo...	ORPHA:970
Osteogenesis Imperfecta, Type Iii	Slender long bone, Wide anterior fontanel, Scoliosis, Tibial bowing, Kyphosis, Multiple prenatal ...	OMIM:259420
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Enamel hypoplasia, Supernumerary tooth	ORPHA:3196
Spermatogenic Failure 48	Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weight, Progress...	ORPHA:276608
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Genu valgum, Delayed eruption of teeth, Maxillozygomatic hypoplasia, Abnormal dental morphology, ...	ORPHA:2972
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology, Upper limb undergrowth, Wormian bones, Limitation of joint mob...	ORPHA:166277
Nance-Horan Syndrome	Supernumerary tooth, Mandibular prognathia, Short metacarpal, Abnormality of the dentition	ORPHA:627
Gnathodiaphyseal Dysplasia	Osteopenia, Broad jaw, Scoliosis, Bowing of the long bones, Thickened cortex of long bones, Mandi...	ORPHA:53697
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hyperconvex vertebral body endplates, Corner fracture of metaphysis, Scoliosis, Coxa vara, Ovoid ...	OMIM:184255
Osteomesopyknosis	Infertility	OMIM:166450
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Asherman Syndrome	Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc...	ORPHA:137686
Pycnodysostosis	Narrow palate, Spondylolysis, Spondylolisthesis, Absent frontal sinuses, Increased bone mineral d...	OMIM:265800
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Hypoplastic ...	ORPHA:93315
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te...	OMIM:614662
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the ve...	OMIM:250460
Weismann-Netter Syndrome	Fibular bowing, Anterior tibial bowing, Scoliosis, Calvarial hyperostosis, Horizontal sacrum, Kyp...	OMIM:112350
Spermatogenic Failure 72	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre...	OMIM:619867
Spermatogenic Failure 34	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:618153
Hypophosphatasia, Adult	Rickets, Osteomalacia, Arthropathy, Carious teeth, Premature loss of primary teeth, Pathologic fr...	OMIM:146300
Amelogenesis Imperfecta, Type Ic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:204650
Spermatogenic Failure, X-Linked, 5	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:301099
Metatropic Dysplasia	Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Short ribs, Long coccyx, Fl...	OMIM:156530
Spermatogenic Failure 47	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella	OMIM:619102
48,Xxyy Syndrome	Thick lower lip vermilion, Clinodactyly of the 5th finger, Abnormal shoulder morphology, Broad ja...	ORPHA:10
Familial Partial Lipodystrophy, Köbberling Type	Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia	ORPHA:79084
Gm1-Gangliosidosis, Type Ii	Beaking of vertebral bodies, Platyspondyly, Gingival overgrowth, Scoliosis, Narrow mouth, Protrud...	OMIM:230600
Orofaciodigital Syndrome Iii	Supernumerary tooth, Postaxial hand polydactyly, Microdontia, Kyphosis, Short sternum, Bifid uvul...	OMIM:258850
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia	OMIM:613370
Cranioectodermal Dysplasia 4	Thin vermilion border, Broad distal phalanx of finger, Broad phalanx of the toes, Short distal ph...	OMIM:614378
Opsismodysplasia	Large fontanelles, Macrocephaly, Rhizomelia, Squared iliac bones, Metaphyseal cupping, Hypoplasti...	OMIM:258480
Lipodystrophy, Familial Partial, Type 4	Lipoatrophy, Skeletal muscle hypertrophy, Oligomenorrhea, Lipodystrophy, Insulin resistance, Insu...	OMIM:613877
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim...	OMIM:600785
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Macrocephaly, Abn...	ORPHA:3144
Hyperinsulinism-Hyperammonemia Syndrome	Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia...	ORPHA:35878
Taurodontism	Taurodontia	OMIM:272700
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Abnormal vertebral morphology, Small epiphyses, Flared metaphysi...	ORPHA:93346
Hypochondroplasia	Limited elbow extension, Macrocephaly, Flared metaphysis, Short long bone, Aplasia/hypoplasia of ...	OMIM:146000
Lipe-Related Familial Partial Lipodystrophy	Proximal muscle weakness in upper limbs, Loss of gluteal subcutaneous adipose tissue, Skeletal mu...	ORPHA:435660
Dentinogenesis Imperfecta	Fragile teeth, Grayish enamel, Joint hypermobility, Yellow-brown discoloration of the teeth, Abno...	ORPHA:49042
Gurrieri Syndrome	Hypoplastic iliac wing, Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplast...	OMIM:601187
Spermatogenic Failure 40	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C...	OMIM:618664
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Scoliosis, Kyphosis, Decreased calvarial ossification, Multiple prenatal fractures...	OMIM:259440
Spermatogenic Failure 80	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse...	OMIM:620222
Spermatogenic Failure 76	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap...	OMIM:620084
Spermatogenic Failure 58	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo...	OMIM:619585
Spermatogenic Failure 70	Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia	OMIM:619828
Spermatogenic Failure 41	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm	OMIM:618670
Brachycephaly, Trichomegaly, And Developmental Delay	Thin vermilion border, Supernumerary tooth, Thick lower lip vermilion, Prominent fingertip pads, ...	OMIM:617412
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Kyphoscoliosis, Dislocated radial head, Short metacarpal, Broad femoral neck, Bifid uvula, Flatte...	OMIM:612350
Momo Syndrome	Abnormal bone ossification, Thick lower lip vermilion, Macrocephaly, Delayed eruption of teeth, F...	ORPHA:2563
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Multiple Epiphyseal Dysplasia Type 4	Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Abnormal forearm bone morphol...	ORPHA:93307
Holoprosencephaly-Craniosynostosis Syndrome	Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Brachydactyly, Short distal phalanx...	ORPHA:2163
Hall-Riggs Syndrome	Microdontia of primary teeth, Hypoplasia of the primary teeth, Thick lower lip vermilion, Scolios...	OMIM:234250
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed puberty, Delayed thelarche, Primary amenorrhea, Dorsocervical fat pad, Hyperinsulinemic h...	OMIM:616033
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus	OMIM:600496
Dentin Dysplasia	Abnormal dental morphology, Abnormal dental enamel morphology, Increased bone mineral density	ORPHA:1653
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of toe, Short distal phalanx of finger, Butterfly vertebrae, Cervical spinal...	ORPHA:79345
Akt2-Related Familial Partial Lipodystrophy	Decreased serum leptin, Increased intraabdominal fat, Oligomenorrhea, Lipodystrophy, Decreased ad...	ORPHA:79085
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia, Taurodontia	OMIM:104510
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul...	OMIM:620211
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus	OMIM:601410
Schwartz-Jampel Syndrome	Spinal rigidity, Flexion contracture of toe, Hyperlordosis, Everted lower lip vermilion, Wrist fl...	ORPHA:800
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla...	OMIM:301059
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, Me...	OMIM:617974
Multiple Epiphyseal Dysplasia Type 1	Genu valgum, Arthralgia of the hip, Delayed epiphyseal ossification, Short long bone, Limitation ...	ORPHA:93308
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa...	ORPHA:276580
Naegeli-Franceschetti-Jadassohn Syndrome	Supernumerary tooth, Yellow-brown discoloration of the teeth, Premature loss of teeth, Abnormalit...	ORPHA:69087
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Otosclero...	OMIM:166220
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperinsulinemia, Generalized lipodystrophy, Progressive psychomotor deterioration, Gait ataxia, ...	ORPHA:363400
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Supernumerary tooth, Scoliosis, High palate, Persistence of primary teeth, Joint hypermobility, I...	OMIM:619752
Hallermann-Streiff Syndrome	Hyperlordosis, Everted lower lip vermilion, Microcephaly, Joint hypermobility, Narrow palate, Dec...	OMIM:234100
Dysostosis, Stanescu Type	Hyperlordosis, Kyphosis, Tooth agenesis, Microcephaly, Persistent open anterior fontanelle, Massi...	ORPHA:1798
Insulinoma	Hyperinsulinemia, Transient global amnesia, Abnormality of pain sensation, Neoplasm of the adrena...	ORPHA:97279
Odontochondrodysplasia	Abnormal metaphysis morphology, Retrognathia, Square pelvis bone, Platyspondyly, Delayed eruption...	ORPHA:166272
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,...	OMIM:240900
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism	OMIM:307500
Craniosynostosis 3	Right unicoronal synostosis, Bicoronal synostosis, Hallux valgus, Brachydactyly, Left unicoronal ...	OMIM:615314
Rothmund-Thomson Syndrome	Osteopenia, Supernumerary tooth, Hypoplasia of the ulna, Reduced bone mineral density, Metaphysea...	ORPHA:2909
Grant Syndrome	Abnormal palate morphology, Large fontanelles, Abnormal cortical bone morphology, Joint dislocati...	ORPHA:2097
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Shor...	ORPHA:137834
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce...	OMIM:262190
Osteomesopyknosis	Sclerotic vertebral body, Abnormal cortical bone morphology, Abnormal form of the vertebral bodie...	ORPHA:2777
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero...	OMIM:144750
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Obesity, Hyperinsulinemia	ORPHA:329249
Spermatogenic Failure 42	Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe...	OMIM:618745
Osteogenesis Imperfecta, Type Viii	Osteopenia, Platyspondyly, Vertebral compression fracture, Slender long bone, Femoral retroversio...	OMIM:610915
Spermatogenic Failure 86	Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru...	OMIM:620499
Lipodystrophy, Congenital Generalized, Type 3	Generalized lipodystrophy, Reduced subcutaneous adipose tissue, Lipodystrophy, Primary amenorrhea...	OMIM:612526
Lethal Recessive Chondrodysplasia	Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Generalized...	ORPHA:1423
Hallermann-Streiff Syndrome	Supernumerary tooth, High, narrow palate, Reduced bone mineral density, Clinodactyly of the 5th f...	ORPHA:2108
Spermatogenic Failure 39	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili...	OMIM:618643
Wolfram-Like Syndrome	Delayed puberty, Central diabetes insipidus, Male hypogonadism, Progressive cerebellar ataxia, Gl...	ORPHA:411590
Prolactin Deficiency, Isolated	Infertility, Irregular menstruation	OMIM:264110
Pseudopseudohypoparathyroidism	Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Enamel hypoplasia, B...	OMIM:612463
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon...	ORPHA:2790
Osteoglosphonic Dysplasia	Abnormal bone ossification, Rhizomelia, Abnormal form of the vertebral bodies, Scoliosis, Tooth a...	ORPHA:2645
Caudal Regression Syndrome	Orofacial cleft, Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, Scoliosis, Abn...	ORPHA:3027
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh...	OMIM:118651
Pseudoachondroplasia	Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi...	OMIM:177170
Chst3-Related Skeletal Dysplasia	Kyphoscoliosis, Genu valgum, Irregular epiphyses, Cubitus valgus, Small epiphyses, Delayed erupti...	ORPHA:263463
Chondrodysplasia With Joint Dislocations, Gpapp Type	Irregular epiphyses of the metacarpals, Short long bone, Short metacarpal, Patellar dislocation, ...	OMIM:614078
Body Mass Index Quantitative Trait Locus 19	Increased serum leptin, Insulin resistance, Obesity, Hyperinsulinemia	OMIM:617885
48,Xxxy Syndrome	Clinodactyly of the 5th finger, Delayed eruption of teeth, Abnormal dental enamel morphology, Man...	ORPHA:96263
Bdv Syndrome	Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo...	OMIM:619326
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Diffuse pancreatic islet hype...	ORPHA:276575
Lipodystrophy, Familial Partial, Type 6	Muscular dystrophy, Skeletal muscle atrophy, Lipodystrophy, Abdominal obesity, Insulin resistance...	OMIM:615980
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Macrocephaly, Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth, Exaggerated ...	ORPHA:2025
Obesity Due To Congenital Leptin Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se...	ORPHA:66628
Autosomal Recessive Robinow Syndrome	Abnormal hip bone morphology, Sandal gap, Kyphosis, Broad thumb, Mesomelia, Wide mouth, Long phil...	ORPHA:1507
Osteosclerotic Metaphyseal Dysplasia	Clavicular sclerosis, Increased bone mineral density, Metaphyseal dysplasia, Dense metaphyseal ba...	OMIM:615198
Nance-Horan Syndrome	Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incisors, Short phalanx of fing...	OMIM:302350
Vitamin D-Dependent Rickets, Type 2A	Rickets, Fibular bowing, Delayed eruption of teeth, Delayed epiphyseal ossification, Enlargement ...	OMIM:277440
Eiken Syndrome	Eruption failure, Delayed ossification of carpal bones, Flat acetabular roof, Broad metatarsal, M...	OMIM:600002
Lethal Osteosclerotic Bone Dysplasia	Retrognathia, Large fontanelles, Gingival fibromatosis, Gingival overgrowth, Delayed cranial sutu...	ORPHA:1832
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Abnormal thumb morphology, Large fontanelles, Abnormal zygomatic bone morphology, Abnormality of ...	ORPHA:2511
Autosomal Recessive Kenny-Caffey Syndrome	Calvarial osteosclerosis, Delayed cranial suture closure, Decreased skull ossification, Thin long...	ORPHA:93324
Atelosteogenesis, Type I	Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic platyspondyly, Fibular aplasia...	OMIM:108720
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Abnormal bone ossification, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal tr...	ORPHA:1952
Chime Syndrome	Supernumerary tooth, Short philtrum, Aplasia/Hypoplasia of the phalanges of the toes, Abnormality...	ORPHA:3474
Congenital Disorder Of Glycosylation, Type Iik	Amelogenesis imperfecta, Secondary microcephaly, Diaphyseal dysplasia, Kyphoscoliosis, Osteoporos...	OMIM:614727
Obesity Due To Leptin Receptor Gene Deficiency	Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se...	ORPHA:179494
Spondyloepiphyseal Dysplasia Tarda	Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse...	ORPHA:93284
Catifa Syndrome	Tooth malposition, Delayed eruption of teeth, Increased overbite, Camptodactyly, Cleft palate, Lo...	OMIM:618761
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ...	ORPHA:93314
49,Xxxxy Syndrome	Clinodactyly of the 5th finger, Delayed eruption of teeth, Abnormal dental enamel morphology, Man...	ORPHA:96264
Osteogenesis Imperfecta, Type Xi	Osteopenia, Kyphoscoliosis, Vertebral compression fracture, Vertebral wedging, Wormian bones, Sco...	OMIM:610968
Body Mass Index Quantitative Trait Locus 20	Obesity, Hyperinsulinemia	OMIM:618406
Larsen-Like Syndrome	Kyphoscoliosis, Macrocephaly, Clinodactyly of the 5th finger, Joint dislocation, Wide anterior fo...	OMIM:608545
Trichodermodysplasia-Dental Alterations Syndrome	Supernumerary tooth, Abnormal hip bone morphology, Delayed eruption of teeth, Scoliosis, Hyperlor...	ORPHA:3353
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Delayed eruption of teeth, Wide anterior fontanel, High palate, E...	OMIM:619736
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica...	ORPHA:2484
Snijders Blok-Campeau Syndrome	Widely spaced teeth, Macrocephaly, Scoliosis, High palate, Enamel hypoplasia, Joint hypermobility...	OMIM:618205
Trisomy 4P	Abnormal palate morphology, Radial club hand, Scoliosis, Abnormality of the dentition, Microcepha...	ORPHA:1738
Osteopathia Striata-Cranial Sclerosis Syndrome	Abnormal metaphysis morphology, Retrognathia, High, narrow palate, Osteopetrosis, Macrocephaly, L...	ORPHA:2780
Dental Ankylosis	Abnormal dental enamel morphology, Mandibular prognathia, Clinodactyly of the 5th finger, Tooth a...	ORPHA:1077
Bent Bone Dysplasia Syndrome 1	Hypoplastic pubic bone, Short clavicles, Gingival overgrowth, Coronal craniosynostosis, Decreased...	OMIM:614592
Mucopolysaccharidosis, Type Iva	Hyperlordosis, Kyphosis, Wide mouth, Constricted iliac wing, Large elbow, Joint hypermobility, Co...	OMIM:253000
Momo Syndrome	Thick lower lip vermilion, Macrocephaly, Delayed eruption of teeth, High palate, Short sternum, S...	OMIM:157980
Odontoid Hypoplasia	Cervical instability, Atlantoaxial instability, Dystopic os odontoideum, Hypoplasia of the odonto...	OMIM:613628
Obesity And Hypopigmentation	Obesity, Hyperinsulinemia	OMIM:620195
Mucopolysaccharidosis, Type Iiid	Thick lower lip vermilion, Macrocephaly, Broad alveolar ridges, Elbow flexion contracture, Joint ...	OMIM:252940
Bruck Syndrome	Platyspondyly, Pterygium, Scoliosis, Bowing of the long bones, Osteoporosis, Kyphosis, Joint stif...	ORPHA:2771
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar	OMIM:114700
Autosomal Dominant Robinow Syndrome	Retrognathia, Abnormal form of the vertebral bodies, Long philtrum, Anodontia, Coxa valga, Hip di...	ORPHA:3107
Flynn-Aird Syndrome	Kyphoscoliosis, Increased bone mineral density, Osteoporosis, Joint stiffness, Carious teeth, Inc...	OMIM:136300
Rothmund-Thomson Syndrome, Type 2	Kyphoscoliosis, Supernumerary tooth, Delayed eruption of teeth, Mandibular prognathia, High palat...	OMIM:268400
Pycnodysostosis	Spondylolysis, Spondylolisthesis, Hypoplastic iliac wing, Hyperlordosis, Kyphosis, Persistent ope...	ORPHA:763
Atelosteogenesis Type Iii	Short tubular bones of the hand, Abnormal cervical curvature, Absent radius, Patellar dislocation...	ORPHA:56305
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Wormian bones, Femoral bowing, Biconcave flattened vertebrae, Dentinoge...	OMIM:166200
Gm1 Gangliosidosis Type 1	Acetabular dysplasia, Beaking of vertebral bodies T12-L3, Platyspondyly, Broad long bone diaphyse...	ORPHA:79255
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Fibular bowing, Delayed epiphyseal ossification, Delayed eruption of teeth, Enlargement ...	OMIM:264700
Duplication Of The Pituitary Gland	Abnormal odontoid process morphology, Supernumerary tooth, Retrognathia, Abnormality of joint mob...	ORPHA:314621
Clark-Baraitser syndrome	Thick lower lip vermilion, Macrocephaly, Genu valgum, Genu recurvatum, Scoliosis, Prominent media...	OMIM:300602
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Metaphyseal irregularity, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped ...	OMIM:307800
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c...	ORPHA:1802
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Retrognathia, Hip subluxation, Genu valgum, Platyspondyly, Broad mid...	OMIM:618853
Cole-Carpenter Syndrome 2	Osteopenia, Lambdoidal craniosynostosis, Macrocephaly, Platyspondyly, Narrow iliac wing, High pal...	OMIM:616294
Brachydactyly, Type E2	Short metatarsal, Delayed eruption of teeth, Oligodontia, Short metacarpal, Brachydactyly	OMIM:613382
Multicentric Osteolysis, Nodulosis, And Arthropathy	Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contractu...	OMIM:259600
Cerebellofaciodental Syndrome	Genu valgum, Clinodactyly of the 5th finger, Slender long bone, Scoliosis, Tapered finger, Microc...	OMIM:616202
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Beaking of vertebral bodies, Mesomelic arm shortening, Cone-shaped ...	OMIM:609616
Smith-Magenis Syndrome	Clinodactyly of the 5th finger, Short philtrum, Abnormal form of the vertebral bodies, Mandibular...	ORPHA:819
Acquired Partial Lipodystrophy	Lipoatrophy, Insulin resistance, Myopathy	ORPHA:79087
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic leg shortening, Cervical spinal canal stenosis, Early ossification of capital femoral ...	ORPHA:397715
Intermediate Osteopetrosis	Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Recurrent fractures...	ORPHA:210110
Mucopolysaccharidosis Type 4	Abnormal metaphysis morphology, Grayish enamel, Reduced bone mineral density, Macrocephaly, Genu ...	ORPHA:582
Hypertrichosis Lanuginosa Congenita	Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:2222
Galactokinase Deficiency	Premature ovarian insufficiency, Hyperinsulinemia, Hypergonadotropic hypogonadism, Failure to thr...	ORPHA:79237
Greenberg Dysplasia	Abnormal bone ossification, Rhizomelia, Abnormal form of the vertebral bodies, Abnormal pelvis bo...	ORPHA:1426
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Acrodysostosis	Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Cone-shaped e...	ORPHA:950
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Crumpled long bones, Delayed eruption of teeth, Abnormal form of ...	ORPHA:2050
Hypophosphatasia, Childhood	Carious teeth, Premature loss of primary teeth, Bowing of the legs, Craniosynostosis	OMIM:241510
Oculodentodigital Dysplasia	Abnormal form of the vertebral bodies, Broad alveolar ridges, Tooth agenesis, Clinodactyly, Tauro...	ORPHA:2710
Albers-Schönberg Osteopetrosis	Abnormal metaphysis morphology, Macrocephaly, Genu valgum, Abnormal metacarpal morphology, Joint ...	ORPHA:53
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Broad alveolar ridges, Abnormality of the philtrum, High palate, Tooth...	ORPHA:2863
Progressive Pseudorheumatoid Dysplasia	Kyphoscoliosis, Sclerotic vertebral endplates, Platyspondyly, Enlarged metacarpophalangeal joints...	OMIM:208230
Craniolenticulosutural Dysplasia	Osteopenia, Macrocephaly, Delayed closure of the anterior fontanelle, Delayed eruption of teeth, ...	OMIM:607812
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Obesity, Type II diabetes...	ORPHA:3085
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival overgrowth, Gingival fibromatosis, Delayed eruption of teeth	ORPHA:2027
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Vertebral wedging, Scoliosis, Multiple prenatal fractures, Biconcave vert...	OMIM:301014
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Short first metatarsal, Ulnar bowing, Epiphyseal stippling, Wide anterior...	OMIM:619135
Lipodystrophy, Familial Partial, Type 1	Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the neck, Loss of su...	OMIM:608600
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormal palate morphology, Macrocephaly, Abnormality of the dentition, Carious teeth, Radioulnar...	ORPHA:3270
Hajdu-Cheney Syndrome	Partial absence of toe, Decreased skull ossification, Kyphosis, Biconcave vertebral bodies, Long ...	ORPHA:955
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Rhizomelia, Platyspondyly, Vertebral compression fracture, Angulated humerus, Wormian...	OMIM:616229
Vertebral Hypoplasia With Lumbar Kyphosis	Vertebral hypoplasia, Lumbar kyphosis	OMIM:192900
Progressive Pseudorheumatoid Arthropathy Of Childhood	Wrist swelling, Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand ...	ORPHA:1159
Hall-Riggs Syndrome	Abnormal metaphysis morphology, Platyspondyly, Delayed eruption of teeth, Abnormal dental enamel ...	ORPHA:2107
Geroderma Osteodysplasticum	Kyphoscoliosis, Femoral bowing, Tibial bowing, Microcephaly, Biconcave vertebral bodies, Wormian ...	OMIM:231070
Smith-Mccort Dysplasia 1	Short metacarpal, Kyphosis, Microcephaly, Iliac crest serration, Hypoplastic facial bones, Metaph...	OMIM:607326
Mody	Large for gestational age, Neonatal hypoglycemia, Hypoinsulinemia, Abnormal circulating insulin c...	ORPHA:552
Cole-Carpenter Syndrome 1	Osteopenia, Reduced bone mineral density, Vertebral compression fracture, Scoliosis, Microdontia,...	OMIM:112240
Osteogenesis Imperfecta, Type Xviii	Vertebral compression fracture, Wormian bones, Femoral bowing, Abnormality of the dentition, Bowi...	OMIM:617952
Hypocalcemic Vitamin D-Resistant Rickets	Abnormal metaphysis morphology, Genu valgum, Abnormal hip bone morphology, Joint dislocation, Abn...	ORPHA:93160
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Fractures of the long bones, Wide humerus, Osteoporosis, Abnormal dental morphology, ...	ORPHA:319195
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Thoracic kyphoscoliosis, Short middle phalanx of the 5th finger, Carious teeth, Cutaneous finger ...	OMIM:203550
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,...	OMIM:609813
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Short long bone, Glossopto...	ORPHA:94068
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Lower-limb metaphyseal irregularity, Enlarged metaphyses, Scoliosis, Short long bone, Upper-limb ...	OMIM:618728
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Rhizomelia, Platyspondyly, Femoral bowing, Thoracic kyphosis, Broad thumb, ...	OMIM:619638
Oculodentodigital Dysplasia	Vertebral hyperostosis, Cubitus valgus, Joint contracture of the 5th finger, Broad alveolar ridge...	OMIM:164200
Craniometaphyseal Dysplasia, Autosomal Recessive	Macrocephaly, Flared metaphysis, Broad alveolar ridges, Mandibular prognathia, Club-shaped distal...	OMIM:218400
Prieto Syndrome	Retrognathia, Radial deviation of finger, 11 pairs of ribs, Abnormality of the dentition, Osteopo...	OMIM:309610
Hypodontia-Dysplasia Of Nails Syndrome	Conical tooth, Delayed eruption of teeth, Everted lower lip vermilion, Abnormality of the dentiti...	ORPHA:2228
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Sclerotic vertebral endplates, Rickets of the lower l...	ORPHA:289176
Osteogenesis Imperfecta, Type Xiii	Kyphoscoliosis, Thin vermilion border, Reduced bone mineral density, Limitation of knee mobility,...	OMIM:614856
Hypogonadism-Cataract Syndrome	Infertility, Male hypogonadism, Hypogonadism	OMIM:240950
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Congenital bilateral hip dislocation, Congenital knee dislocation, Joint subluxation,...	OMIM:130060
X-Linked Hypophosphatemia	Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,...	ORPHA:89936
Craniosynostosis And Dental Anomalies	Narrow palate, Supernumerary tooth, Lambdoidal craniosynostosis, Delayed eruption of teeth, Denta...	OMIM:614188
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Scoliosis, Femoral bowing, Osteoporosis, Carious teeth, Platyspondyly, Recurrent frac...	OMIM:126550
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age...	OMIM:313500
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement ...	OMIM:600081
Cidec-Related Familial Partial Lipodystrophy	Loss of gluteal subcutaneous adipose tissue, Skeletal muscle hypertrophy, Loss of subcutaneous ad...	ORPHA:435651
Gillessen-Kaesbach-Nishimura Syndrome	Narrow greater sciatic notch, Retrognathia, Wide anterior fontanel, Short long bone, Decreased sk...	OMIM:263210
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Abnormal mandible morphology, Cleft palate, Arthrogryposis multiplex congenita	OMIM:217150
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Hyperextensibility of ...	OMIM:619797
Distal Deletion 12Q	Kyphoscoliosis, Supernumerary tooth, High, narrow palate, Macrocephaly, Clinodactyly of the 5th f...	ORPHA:96149
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Campomelic Dysplasia	Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Tracheobronchomalacia, Hypop...	OMIM:114290
Pparg-Related Familial Partial Lipodystrophy	Lipoatrophy, Maternal diabetes, Abnormality of skeletal muscle fiber size, Secondary amenorrhea, ...	ORPHA:79083
Atelosteogenesis Type Ii	Sandal gap, Bilateral cleft palate, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lo...	ORPHA:56304
Cervical Vertebral Dysplasia	Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d...	OMIM:118005
Spondylometaphyseal Dysplasia, Kozlowski Type	Narrow greater sciatic notch, Kyphoscoliosis, Carpal bone hypoplasia, Cone-shaped epiphyses of th...	OMIM:184252
Spermatogenic Failure 6	Male infertility, Globozoospermia, Decreased acrosin in sperm head	OMIM:102530
Camptodactyly Syndrome, Guadalajara Type 1	Sacral dimple, Cubitus valgus, Abnormal form of the vertebral bodies, Hallux valgus, Mandibular p...	ORPHA:1327
Craniolenticulosutural Dysplasia	Thin vermilion border, Large fontanelles, Delayed eruption of teeth, Premature loss of teeth, Sco...	ORPHA:50814
Congenital Generalized Lipodystrophy	Amenorrhea, Hyperinsulinemia, Precocious puberty in females, Skeletal muscle hypertrophy, Oligome...	ORPHA:528
Infantile Liver Failure Syndrome 3	Beaking of vertebral bodies, Hypoplastic vertebral bodies, Abnormality of the epiphysis of the fe...	OMIM:618641
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Wide anterior fontanel, Mesomelia, Limb undergrowth, Shortening of all phalanges o...	OMIM:601356
Orofaciodigital Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod...	ORPHA:2751
Ramon Syndrome	Narrow palate, Gingival fibromatosis, Delayed eruption of teeth, Abnormal dental enamel morpholog...	ORPHA:3019
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Relative macrocephaly, Congenital hip dislocation, Wormian bones, Macr...	OMIM:614450
Mucopolysaccharidosis, Type Ivb	Hyperlordosis, Kyphosis, Joint stiffness, Wide mouth, Constricted iliac wing, Joint hypermobility...	OMIM:253010
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Gingival overgrowth, Scoliosis, Kyphosis, Joint stiffness, Hypoplast...	OMIM:230500
Estrogen Resistance	Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole...	OMIM:615363
Dermatosparaxis Ehlers-Danlos Syndrome	Rickets, Retrognathia, Osteopenia, Joint dislocation, Osteomalacia, Scoliosis, Osteoporosis, Coxa...	ORPHA:1901
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Thin vermilion border, Kyphoscoliosis, Second metatarsal posteriorly placed, ...	OMIM:214150
Orofaciodigital Syndrome I	Radial deviation of finger, Microcephaly, Syndactyly, Tongue nodules, Clinodactyly, Alveolar ridg...	OMIM:311200
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Metopic depression, Short clavicles, Gingival overgrowth, Steep acetabular roof, Hypo...	ORPHA:313855
Hyperinsulinism Due To Ucp2 Deficiency	Hypoglycemic seizures, Large for gestational age, Diffuse pancreatic islet hyperplasia, Hypoketot...	ORPHA:276556
Gingival Fibromatosis-Hypertrichosis Syndrome	Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2026
Codas Syndrome	Delayed eruption of teeth, Abnormal form of the vertebral bodies, Abnormal dental enamel morpholo...	ORPHA:1458
Glycogen Storage Disease 0, Liver	Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia	OMIM:240600
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, Epiphyseal stippling, Finger syndactyly, Absent ...	OMIM:308050
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Wormian bones, Scoliosis, Osteoporosis, Coxa vara, Bowing of the arm, Joint hyperm...	OMIM:619131
Osteogenesis Imperfecta, Type Vii	Osteopenia, Rhizomelia, Crumpled long bones, Vertebral compression fracture, Femoral retroversion...	OMIM:610682
Marbach-Rustad Progeroid Syndrome	Femur fracture, Reduced bone mineral density, Short clavicles, Eruption failure, Wormian bones, N...	OMIM:619322
Acrocraniofacial Dysostosis	Advanced eruption of teeth, Genu valgum, Short 1st metacarpal, Abnormal hip bone morphology, Shor...	ORPHA:949
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Wide anterior fontanel, Bilateral cleft palate, Absent d...	OMIM:619339
Orofaciodigital Syndrome Ii	Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, Scoliosis, Postaxi...	OMIM:252100
Maxillonasal Dysplasia, Binder Type	Short distal phalanx of finger, Dental malocclusion, Patchy distortion of vertebrae, Vertebral cl...	OMIM:155050
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Recurrent fractures	ORPHA:2773
Chromosome 16Q22 Deletion Syndrome	Wide anterior fontanel, High palate, Prominent metopic ridge, Microcephaly, Micrognathia, Broad h...	OMIM:614541
Elsahy-Waters Syndrome	Supernumerary tooth, Agenesis of incisor, Thick lower lip vermilion, Cervical C2/C3 vertebral fus...	OMIM:211380
Temple-Baraitser Syndrome	Everted upper lip vermilion, Delayed eruption of teeth, Triangular shaped distal phalanx of the t...	ORPHA:420561
Temtamy Preaxial Brachydactyly Syndrome	Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Microd...	ORPHA:363417
Bruck Syndrome 2	Osteopenia, Platyspondyly, Pterygium, Elbow flexion contracture, Femoral bowing, Flexion contract...	OMIM:609220
Rubinstein-Taybi Syndrome 2	Narrow palate, Retrognathia, Short 5th toe, Short first metatarsal, Increased overbite, Prominent...	OMIM:613684
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Hypoplastic iliac wing, Mandibular prognathia, Scoliosis, Abnormality of the dentition, Kyphosis,...	ORPHA:1858
Hemifacial Atrophy, Progressive	Short mandibular rami, Delayed eruption of teeth, Kyphosis, Dental malocclusion, Tongue atrophy	OMIM:141300
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Peg-shaped maxillary lateral incisors, Palat...	ORPHA:199306
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Cone-shaped epiphyses of the phalanges of the hand, Irregularity of vertebral bodies, Microcephal...	ORPHA:85172
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Abnormal metaphysis morphology, Thin vermilion border, Supernumerary tooth, Thick vermilion borde...	ORPHA:86818
Pseudodiastrophic Dysplasia	Rhizomelia, Scoliosis, Camptodactyly, Micrognathia, Hypoplasia of the odontoid process, Malar fla...	OMIM:264180
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Limited elbow extension, Narrow greater sciatic notch, Irregular epiphyses, Dysplastic iliac wing...	OMIM:608728
Smith-Mccort Dysplasia 2	Limited elbow extension, Genu valgum, Platyspondyly, Short metatarsal, Mandibular prognathia, Hyp...	OMIM:615222
Peroxisome Biogenesis Disorder 3A (Zellweger)	Wide anterior fontanel, Epiphyseal stippling	OMIM:614859
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal palate morphology, Reduced bone mineral density, Scoliosis, Open bite, Vertebral segment...	ORPHA:2617
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,...	OMIM:184250
Alpha-Mannosidosis	Narrow palate, Widely spaced teeth, Macrocephaly, Craniofacial hyperostosis, Arthritis, Mandibula...	ORPHA:61
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Platyspondyly, Short met...	ORPHA:93351
Familial Hyperprolactinemia	Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea	ORPHA:397685
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Beaking of vertebral bodies, Platyspondyly, Large tarsal bones, Flared metaphysis, Short long bon...	OMIM:215150
Hennekam Syndrome	Supernumerary tooth, Retrognathia, Short philtrum, Delayed eruption of teeth, Finger syndactyly, ...	ORPHA:2136
Trichorhinophalangeal Syndrome, Type I	Hyperlordosis, Short metacarpal, Microdontia, Cone-shaped epiphyses of the proximal phalanges of ...	OMIM:190350
Epidermolysis Bullosa, Junctional 1A, Intermediate	Enamel hypoplasia, Carious teeth, Camptodactyly of finger, Hypodontia, Oral mucosal blisters	OMIM:226650
Acromicric Dysplasia	Cone-shaped epiphysis, Thick lower lip vermilion, Short long bone, Narrow mouth, Short metacarpal...	OMIM:102370
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Rocker bottom foot, Clinodactyly of the 5th finger, Exaggerated cupid's bow, Microcephaly, Wide m...	OMIM:618506
Grant Syndrome	Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Peroxisome Biogenesis Disorder 7A (Zellweger)	Epiphyseal stippling, Wide anterior fontanel, High palate, Large posterior fontanelle, Long philtrum	OMIM:614872
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ...	ORPHA:79644
Achondroplasia	Limited elbow extension, Narrow greater sciatic notch, Short proximal phalanx of finger, Cervical...	ORPHA:15
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Short philtrum, Delayed eruption of teeth, Abnormal dental enamel morphology, Mandibular prognath...	ORPHA:2325
Osteogenesis Imperfecta, Type Xxiii	Insulin resistance, Truncal obesity, Torticollis	OMIM:620639
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition	OMIM:125440
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Retrognathia, Abnormal palate morphology, Clinodactyly of the 5th finger, Scoliosis, Carious teet...	ORPHA:1390
Osteopetrosis, Autosomal Recessive 2	Cranial hyperostosis, Osteopetrosis, Genu valgum, Diaphyseal sclerosis, Recurrent fractures, Mand...	OMIM:259710
Spondylometaphyseal Dysplasia, Schmidt Type	Narrow greater sciatic notch, Kyphoscoliosis, Short long bone, Abnormality of the epiphysis of th...	ORPHA:93316
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo...	ORPHA:2298
Frontometaphyseal Dysplasia 1	Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co...	OMIM:305620
Laron Syndrome	Delayed eruption of teeth, Microdontia, Tooth agenesis, Micrognathia, Short toe, Osteoarthritis, ...	ORPHA:633
3M Syndrome	Rocker bottom foot, Hyperlordosis, Everted lower lip vermilion, Kyphosis, Hypoplastic ischia, Hyp...	ORPHA:2616
Mandibuloacral Dysplasia	Lipoatrophy, Hyperinsulinemia, Glucose intolerance, Loss of subcutaneous adipose tissue in limbs,...	ORPHA:2457
Schimke Immuno-Osseous Dysplasia	Platyspondyly, Abnormal femoral head morphology, Abnormal primary molar morphology, Microdontia, ...	ORPHA:1830
Odontotrichoungual-Digital-Palmar Syndrome	Short first metatarsal, Mandibular prognathia, Short distal phalanx of toe, Natal tooth, Thick ve...	OMIM:601957
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Subperiosteal bone formation, Hyperostosis, Enamel hypoplasia, Pulp calcification, Taurodontia	OMIM:211900
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Short attention span, Failure to thrive, Hypogonadism, Attention deficit hyperactivity disorder, ...	ORPHA:73272
Familial Partial Lipodystrophy, Dunnigan Type	Lipoatrophy, Abnormality of skeletal muscle fiber size, Secondary amenorrhea, Skeletal muscle hyp...	ORPHA:2348
Acrofacial Dysostosis, Weyers Type	Advanced eruption of teeth, Solitary median maxillary central incisor, Clinodactyly of the 5th fi...	ORPHA:952
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor...	OMIM:311300
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res...	OMIM:301106
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Short long bone, Hyperlordosis,...	ORPHA:457395
Achondrogenesis Type 2	Abnormal bone ossification, Delayed pubic bone ossification, Short long bone, Short ribs, Hypopla...	ORPHA:93296
Diabetes Mellitus, Permanent Neonatal, 3	Athetosis, Glycosuria, Hyperglycemia, Type I diabetes mellitus, Small for gestational age	OMIM:618857
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Large fontanelles, Delayed cranial suture closu...	ORPHA:2249
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Abnormal form of the vertebral bodies, Synostosis of carp...	ORPHA:3238
Diabetes Mellitus, Permanent Neonatal, 4	Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age	OMIM:618858
Spermatogenic Failure 85	Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi...	OMIM:620490
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Tooth agenesis, Mic...	ORPHA:818
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o...	OMIM:241530
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Macrocephaly, Delayed eruption of teeth, Dental crowding, Scoliosis, High palate, Wide mouth, Lon...	OMIM:618825
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o...	OMIM:300554
Bangstad Syndrome	Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Ataxia, Abnormality of the parat...	ORPHA:1227
Aredyld Syndrome	Advanced eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology, Mandibu...	ORPHA:1133
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia, Ataxia	OMIM:618970
Autosomal Dominant Hypophosphatemic Rickets	Tooth abscess, Rickets, Bowing of the legs, Osteomalacia	ORPHA:89937
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, Fas...	ORPHA:263455
Aarskog-Scott Syndrome	Orofacial cleft, Clinodactyly of the 5th finger, Delayed eruption of teeth, Finger syndactyly, Ge...	ORPHA:915
Intellectual Disability And Myopathy Syndrome	Limited elbow extension, Scoliosis, Incisor macrodontia, Congenital hip dislocation, Achilles ten...	OMIM:619719
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Conical tooth, Narrow mouth, Microdontia, Hypoplasia of the maxilla...	OMIM:129400
Lipodystrophy, Familial Partial, Type 5	Decreased serum leptin, Lipodystrophy, Decreased adiponectin level, Diabetic ketoacidosis, Irregu...	OMIM:615238
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Abnormal zygomatic bone morphology, Abnormal cortical bone morph...	ORPHA:2769
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Reduced bone mineral density, Premature epimetaphyseal fusio...	ORPHA:85435
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Slender long bone, Scoliosis, Tapered finger, Microcephaly, Micrognathia,...	ORPHA:444072
Geroderma Osteodysplastica	Beaking of vertebral bodies, Abnormal bone ossification, Platyspondyly, Vertebral compression fra...	ORPHA:2078
Ciliary Dyskinesia, Primary, 41	Infertility, Immotile sperm	OMIM:618449
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Abnormality of bone mineral density, Temporomandibular joint ankylosis,...	ORPHA:2741
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Van Maldergem Syndrome 1	Joint hypermobility, Clinodactyly, Short 4th metacarpal, Sacral dimple, Scoliosis, Camptodactyly,...	OMIM:601390
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Abnormality of body mass ...	OMIM:616329
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Aplasia of the epiglottis, Short clavicles, Short long bone, Postaxial hand ...	OMIM:617088
Bruck Syndrome 1	Ankle flexion contracture, Platyspondyly, Pterygium, Vertebral wedging, Scoliosis, Elbow flexion ...	OMIM:259450
Lipodystrophy, Familial Partial, Type 2	Increased intramuscular fat, Hyperinsulinemia, Loss of truncal subcutaneous adipose tissue, Skele...	OMIM:151660
Muenke Syndrome	Macrocephaly, Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Thi...	OMIM:602849
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Sco...	ORPHA:88630
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short distal phalanx of toe, Narrow mouth, Microdontia, Microcephaly, Bilateral triphalangeal thu...	OMIM:619356
Spinocerebellar Ataxia, Autosomal Recessive 20	Kyphoscoliosis, Delayed eruption of teeth, Dental crowding, Scoliosis, Relative macrocephaly, Hig...	OMIM:616354
Acrofacial Dysostosis Syndrome Of Rodriguez	Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Short philtrum, Wide anterior fontanel...	OMIM:201170
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Subperiosteal bone resorption, Delayed eruption of teeth, Delayed epiphyseal ossificatio...	ORPHA:289157
Desbuquois Dysplasia 1	Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral neck, Bifid distal phala...	OMIM:251450
Spondyloepimetaphyseal Dysplasia, Irapa Type	Limited elbow extension, Hypoplastic sacrum, Genu valgum, Short metatarsal, Upper limb undergrowt...	OMIM:271650
Pseudohypoparathyroidism, Type Ia	Short finger, Short metatarsal, Delayed eruption of teeth, Short metacarpal, Subcutaneous ossific...	OMIM:103580
Kniest Dysplasia	Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffness, Flexion contrac...	ORPHA:485
Eem Syndrome	Widely spaced teeth, Finger syndactyly, Selective tooth agenesis, Ectrodactyly, Microdontia, Abno...	ORPHA:1897
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia, Flexion contracture	OMIM:618856
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the toes, Cone-shaped epiphyses of the phalanges of the hand, Hyperlordosis, M...	OMIM:226980
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Small for gestational age	OMIM:606176
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Lumbar platyspondyly, Increased intervertebral space, Short long bon...	OMIM:618961
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Macrocephaly, Sacral dimple, Wide anterior fontanel, Kyphosis, Micrognathia	OMIM:618272
Wiedemann-Rautenstrauch Syndrome	Kyphoscoliosis, Retrognathia, Relative macrocephaly, Atlantoaxial abnormality, Short humerus, Hyp...	ORPHA:3455
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Retrognathia, Clinodactyly of the 5th finger, Periodontitis, Cone-shaped epiphyses of...	OMIM:619269
Proprotein Convertase 1/3 Deficiency	Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co...	OMIM:600955
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal palate morphology, Tarsal synostosis, Abnormal dental enamel morphology, Wide anterior f...	ORPHA:85199
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Male hypogonadism, Loss of subcutaneous adipose tissue in limbs, Joint contracture, Lipodystrophy...	OMIM:615381
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
Filippi Syndrome	Thin vermilion border, Finger clinodactyly, Short philtrum, Serrated incisors, Microdontia, Abnor...	OMIM:272440
Carpenter Syndrome 1	Flared iliac wing, Duplication of the proximal phalanx of the hallux, Genu varum, Coxa valga, Sac...	OMIM:201000
Arthrogryposis, Distal, Type 12	Ankle flexion contracture, Spinal rigidity, Clinodactyly of the 5th finger, Tapered distal phalan...	OMIM:620545
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Dental crowding, Oligodontia, Tracheobronchomalacia, Shor...	OMIM:619184
Hypophosphatemic Rickets, Autosomal Recessive, 2	Genu valgum, Hypophosphatemic rickets, Hypoplasia of teeth, Carious teeth, Coxa valga, Genu varum	OMIM:613312
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Clinodactyly of the 5th toe, Dental crowding, Short metacarpal, Microcepha...	OMIM:170390
Oculodentodigital Dysplasia, Autosomal Recessive	Thin vermilion border, Hypoplasia of the primary teeth, 2-4 toe cutaneous syndactyly, Large fonta...	OMIM:257850
Schneckenbecken Dysplasia	Macrocephaly, Platyspondyly, Snail-like ilia, Short long bone, Flat acetabular roof, Short ribs, ...	OMIM:269250
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Dental Anomalies And Short Stature	Amelogenesis imperfecta, Widely spaced teeth, Intervertebral space narrowing, Mandibular prognath...	OMIM:601216
Three M Syndrome 2	Delayed eruption of teeth, Slender long bone, Relative macrocephaly, High palate, Hyperlordosis, ...	OMIM:612921
Progeroid Syndrome, Petty Type	Wide anterior fontanel, Mandibular prognathia, Everted lower lip vermilion, Decreased skull ossif...	ORPHA:2963
Fibrochondrogenesis 2	Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Hypoplastic ilia, Hypop...	OMIM:614524
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Talon cusp, Microdontia, Short metacarpal,...	OMIM:605282
X-Linked Hypohidrotic Ectodermal Dysplasia	Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia,...	ORPHA:181
Donohue Syndrome	Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Precocious puberty, Hyperglycem...	OMIM:246200
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Supernumerary tooth, Widely spaced teeth, Conical tooth, Microdontia, Micrognathia, Hypodontia	ORPHA:90024
Osteoporosis	Osteoporosis	OMIM:166710
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Large fontanelles, Wide distal femoral metaphysis, Delayed epiphyseal ossification, Metaphyseal c...	OMIM:613320
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Malan Syndrome	Retrognathia, Advanced eruption of teeth, Macrocephaly, Mandibular prognathia, Gingival overgrowt...	OMIM:614753
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Micrognathia, Multiple unerupted teeth	OMIM:183300
Oculofaciocardiodental Syndrome	Abnormal palate morphology, Genu valgum, Solitary median maxillary central incisor, Hammertoe, Cl...	ORPHA:2712
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Retrognathia, Overjet, Thick lower lip vermilion, Short philtrum, Dental crowding, High palate, E...	OMIM:618342
Hao-Fountain Syndrome	Large fontanelles, Hallux valgus, Clinodactyly of the 5th finger, Delayed cranial suture closure	OMIM:616863
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Recurrent mandibular subluxations, Wide anterior fontanel, Gingival hyperkeratosis, G...	OMIM:225410
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Macrocephaly, Notched primary central incisor, Microcephaly, Brachydactyly, Adducted thumb	OMIM:620062
Frank-Ter Haar Syndrome	Kyphoscoliosis, Broad alveolar ridges, Short long bone, Kyphosis, Wide mouth, Wormian bones, Oste...	OMIM:249420
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Lipoatrophy, Secondary amenorrhea, Skeletal muscle hypertrophy, Decreased serum leptin, Loss of s...	ORPHA:280365
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Short long bone, Short metacarpa...	OMIM:611717
Desbuquois Dysplasia 2	Dental crowding, Relative macrocephaly, Short long bone, Flat acetabular roof, Short metacarpal, ...	OMIM:615777
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Platyspondyly, Short neck, Flared metaphysis, Short ribs, Decreased skull ossificatio...	OMIM:616897
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Congenital Syphilis	Periostitis, Osteochondrosis, Tibial bowing, High palate, Notched primary central incisor, Synovi...	ORPHA:499009
Saul-Wilson Syndrome	Platyspondyly, Short metatarsal, Madelung deformity, Cone-shaped epiphyses of the phalanges of th...	OMIM:618150
Spermatogenic Failure 81	Multiple non-erupting secondary teeth	OMIM:620277
Fibrous Dysplasia Of Bone	Abnormal femur morphology, Pathologic fracture, Osteolysis, Rickets, Abnormality of the sphenoid ...	ORPHA:249
Amelogenesis Imperfecta, Type Ij	Amelogenesis imperfecta, Widely spaced teeth, Increased overbite, Abnormal dentin morphology, Car...	OMIM:617297
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Camptodactyly of finger, Abnormal dental enamel morphology, Abnormality of the dentition, Taurodo...	ORPHA:3220
Combined Oxidative Phosphorylation Deficiency 54	Memory impairment, Lower limb muscle weakness, Hypergonadotropic hypogonadism, Obesity, Hyperglyc...	OMIM:619737
Epidermolysis Bullosa, Junctional 4, Intermediate	Carious teeth, Dental enamel pits	OMIM:619787
Char Syndrome	Clinodactyly of the 5th finger, Short philtrum, Triangular mouth, Symphalangism of the 5th finger...	ORPHA:46627
Microphthalmia, Syndromic 2	Sandal gap, Microcephaly, Bifid uvula, Long philtrum, 2-3 toe cutaneous syndactyly, Radiculomegal...	OMIM:300166
Tooth Agenesis, Selective, 3	Agenesis of permanent molar, Oligodontia, Oligodontia of primary teeth, Microdontia	OMIM:604625
Intellectual Disability, Birk-Barel Type	High, narrow palate, Limited elbow flexion/extension, Sacral dimple, Short philtrum, Foot joint c...	ORPHA:166108
Amelo-Onycho-Hypohidrotic Syndrome	Advanced eruption of teeth, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, A...	ORPHA:1028
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Cranial hyperostosis, Oligodontia, Relative macrocephaly, Natal tooth, Hypodontia	OMIM:601345
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Obesity, Hypogonadism, Primary amenorrhea	OMIM:614962
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb bone ...	ORPHA:2788
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Osteopetrosis, Macrocephaly, Calvarial osteosclerosis, Flared metaphysis, Increas...	OMIM:259700
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Coffin-Siris Syndrome 3	Joint hypermobility, Scoliosis, High palate, Microcephaly, Cleft palate, Wide mouth, Thick vermil...	OMIM:614608
Shaheen Syndrome	Enamel hypoplasia, Carious teeth, Microcephaly	OMIM:615328
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Broad metatarsal, Broad thumb, Long philtrum, Craniosynostosi...	OMIM:166250
Kenny-Caffey Syndrome, Type 1	Calvarial osteosclerosis, Slender long bone, Decreased skull ossification, Carious teeth, Short p...	OMIM:244460
Larsen Syndrome	Multiple carpal ossification centers, Spondylolysis, Short metacarpal, Dislocated wrist, Joint hy...	OMIM:150250
Mandibuloacral Dysplasia With Type B Lipodystrophy	Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca...	OMIM:608612
Intellectual Disability, Buenos-Aires Type	Reduced bone mineral density, Clinodactyly of the 5th finger, Mandibular prognathia, Open bite, H...	ORPHA:3079
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Immunodeficiency 33	Hypodontia, Conical tooth, Delayed eruption of teeth	OMIM:300636
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Short philtrum, Delayed eruption of teeth, Macrodontia, Taurodontia	ORPHA:3214
Perlman Syndrome	Femoral hernia, Hyperinsulinemia, Inguinal hernia	ORPHA:2849
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Absent trapezium, Cone-shaped epiphyses of the middle phalanges of the hand, Distal symphalangism...	OMIM:606895
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Short long bone, Flat acetabular roof, Short ribs, Hypoplastic ischia, Dumbbell-shaped long bone,...	OMIM:151210
Coffin-Lowry Syndrome	Abnormal form of the vertebral bodies, Everted lower lip vermilion, Short metacarpal, Kyphosis, M...	ORPHA:192
Failure Of Tooth Eruption, Primary	Hypodontia, Failure of eruption of permanent teeth, Persistence of primary teeth	OMIM:125350
Acrofacial Dysostosis, Catania Type	Spina bifida occulta, Microcephaly, Carious teeth, Micrognathia, Cleft palate, Short palm, Malar ...	OMIM:101805
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Abnorm...	ORPHA:3409
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Orofaciodigital Syndrome Type 14	Supernumerary tooth, Deviation of the hallux, Aplasia of the epiglottis, Postaxial hand polydacty...	ORPHA:434179
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Large fontanelles, Platyspondyly, Crumpled long bones, Tibial bo...	OMIM:166210
Pseudohypoparathyroidism, Type Ic	Short metatarsal, Delayed eruption of teeth, Short metacarpal, Osteoporosis, Enamel hypoplasia, B...	OMIM:612462
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow greater sciatic notch, Short long bone, Limitation of joint mobility, Bowing of the long b...	OMIM:224400
Polyendocrine-Polyneuropathy Syndrome	Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi...	ORPHA:453533
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes...	ORPHA:90301
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Kyphoscoliosis, Multiple carpal ossification centers, Generalized bone demineralization, Dislocat...	OMIM:143095
Cervical Vertebrae, Agenesis Of	Cervical vertebral agenesis	OMIM:214290
Van Maldergem Syndrome 2	Joint hypermobility, Clinodactyly, Short 4th metacarpal, Sacral dimple, Scoliosis, Short fourth m...	OMIM:615546
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
X-Linked Acrogigantism	Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased...	ORPHA:300373
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulating hormone concentr...	ORPHA:785
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Narrow palate, Supernumerary tooth, Secondary microcephaly, Broad distal phalanx of finger, Abnor...	ORPHA:353281
Premature Aging Syndrome, Penttinen Type	Retrognathia, Tibial bowing, Flexion contracture of finger, Short distal phalanx of finger, Scoli...	OMIM:601812
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Amelogenesis imperfecta, Hypodontia, Microcephaly, Delayed eruption of teeth	OMIM:615905
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Large fontanelles, Macrocephaly, Clinodactyly of the 5th finger, Hypoplastic coccygeal vertebrae,...	OMIM:619512
Short Syndrome	Lipoatrophy, Inguinal hernia, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, H...	OMIM:269880
Lowry-Maclean Syndrome	Osteopenia, Retrognathia, High, narrow palate, Widely patent coronal suture, Talon cusp, Osteopor...	ORPHA:2409
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Narrow palate, Abnormal palate morphology, Abnormal fibula morphology, Abnormal femur morphology,...	ORPHA:2063
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Short finger, Platyspondyly, Small epiphyses, Wormian bones, Thoracic kyphosis, H...	OMIM:300232
Infantile Systemic Hyalinosis	Osteopenia, Macrocephaly, Gingival overgrowth, Osteoporosis, Micromelia, Abnormal dental morpholo...	ORPHA:2176
Brachydactyly, Type E1	Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly, Multipl...	OMIM:113300
Placental Insufficiency	Insulin resistance, Small for gestational age	ORPHA:439167
Diamond-Blackfan Anemia 1	Retrognathia, Hypoplasia of the radius, Triphalangeal thumb, Hypoplastic coccygeal vertebrae, Spi...	OMIM:105650
Osteogenesis Imperfecta, Type Vi	Beaking of vertebral bodies, Vertebral compression fracture, Coxa vara, Biconcave vertebral bodie...	OMIM:613982
Oculocerebrorenal Syndrome Of Lowe	Cheilitis, Dental crowding, Everted lower lip vermilion, Kyphosis, Tooth agenesis, Joint stiffnes...	ORPHA:534
Sponastrime Dysplasia	Kyphoscoliosis, Relative macrocephaly, Short long bone, Short dental root, Microdontia, Biconcave...	ORPHA:93357
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Kyphoscoliosis, Arthritis, Hypoplasia of the odontoid process, Malar flattening, Irregular verteb...	OMIM:184100
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:204700
Cutis Laxa, Autosomal Recessive, Type Iia	Wide anterior fontanel, Scoliosis, High palate, Narrow mouth, Congenital hip dislocation, Microce...	OMIM:219200
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Codas Syndrome	Genu valgum, Proximal placement of thumb, Delayed eruption of teeth, Delayed ossification of carp...	OMIM:600373
Blomstrand Lethal Chondrodysplasia	Rhizomelia, Platyspondyly, Flared metaphysis, Increased bone mineral density, Metaphyseal cupping...	ORPHA:50945
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Abnormal femoral head morphology, Short long bone, Limited knee ext...	ORPHA:239
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate...	OMIM:268310
Dyskeratosis Congenita	Periodontitis, Scoliosis, Abnormality of the dentition, Osteoporosis, Hypoplasia of the maxilla, ...	ORPHA:1775
X-Linked Dominant Chondrodysplasia Punctata	Kyphoscoliosis, Epiphyseal stippling, Anterior rib punctate calcifications, High palate, Abnormal...	ORPHA:35173
W Syndrome	Hypoplasia of the ulna, Cubitus valgus, Camptodactyly, Metatarsus adductus, Clinodactyly, Upper l...	ORPHA:2804
Steatocystoma Multiplex	Natal tooth	OMIM:184500
Coffin-Siris Syndrome 2	Thick lower lip vermilion, Short philtrum, Delayed eruption of teeth, Sandal gap, High palate, Mi...	OMIM:614607
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:300106
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho...	OMIM:620662
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Delayed pubic bone ossification, Limitation of knee mobility, Delayed cal...	OMIM:183900
Trisomy 9P	Sacral dimple, Clinodactyly of the 5th finger, Dental crowding, Non-midline cleft of the upper li...	ORPHA:236
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Kyphoscoliosis, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the han...	OMIM:210730
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Macrocephaly, Clinodactyly of the 5th finger, Genu valgum, Mandibular prognathia, Prominent finge...	OMIM:619721
Orofaciodigital Syndrome Xiv	Supernumerary tooth, Preaxial polydactyly, Aplasia of the epiglottis, Short ribs, Postaxial hand ...	OMIM:615948
Ellis-Van Creveld Syndrome	Genu valgum, Delayed eruption of teeth, Hypoplastic iliac wing, Abnormal alveolar ridge morpholog...	OMIM:225500
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Secondary microcephaly, Broad secondary alveolar ridge, High palate, Multiple suture craniosynost...	ORPHA:3369
Gigantiform Cementoma, Familial	Multiple impacted teeth, Cementoma, Tooth malposition	OMIM:137575
Silver-Russell Syndrome 2	Clinodactyly of the 5th finger, 2-3 toe syndactyly, Relative macrocephaly, Downturned corners of ...	OMIM:618905
Isolated Cleft Lip	Supernumerary maxillary incisor, Non-midline cleft of the upper lip, Velopharyngeal insufficiency...	ORPHA:199302
20P13 Microdeletion Syndrome	Polydactyly, Macrocephaly, Finger syndactyly, Wide anterior fontanel, Microcephaly, Clinodactyly,...	ORPHA:313781
Multiple Sulfatase Deficiency	Broad thumb, Hypoplastic vertebral bodies, Broad hallux	OMIM:272200
Summitt Syndrome	Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyly, Prominent m...	ORPHA:3210
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Secondary microcephaly, Enamel hypoplasia, Carious teeth, Thick vermilion border, Mild microcephaly	ORPHA:363523
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Kyphosis, Bifid uvula, Wide mouth, Symphalangism affecting the phalan...	ORPHA:2658
Osteogenesis Imperfecta, Type Xvii	Kyphoscoliosis, Reduced bone mineral density, Platyspondyly, Thin metacarpal cortices, Vertebral ...	OMIM:616507
Hypophosphatemic Rickets, Autosomal Dominant	Rickets, Osteomalacia, Hypophosphatemic rickets, Abnormality of the dentition	OMIM:193100
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Short long bone, Hyperlordosis, Metaphyseal irregularity, Long philtrum, Joint hypermobility, Hip...	OMIM:616007
Qazi-Markouizos Syndrome	High, narrow palate, Delayed ossification of carpal bones, Hypoplasia of teeth, Open mouth, Broad...	ORPHA:3010
Dent Disease 1	Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement ...	OMIM:300009
Late-Onset Junctional Epidermolysis Bullosa	Enamel hypoplasia, Carious teeth, Oral mucosal blisters	ORPHA:79406
Seckel Syndrome	Clinodactyly of the 5th finger, Sandal gap, Abnormal dental enamel morphology, Scoliosis, Tooth a...	ORPHA:808
Crisponi/Cold-Induced Sweating Syndrome 1	Limited elbow extension, Retrognathia, Kyphoscoliosis, Radial deviation of finger, Elbow flexion ...	OMIM:272430
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Widely spaced teeth, Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the ...	OMIM:617102
Atelosteogenesis Type I	Absent or minimally ossified vertebral bodies, Abnormal fibula morphology, Rhizomelia, Joint disl...	ORPHA:1190
Atkin-Flaitz Syndrome	Macrocephaly, Abnormality of the dentition, Everted lower lip vermilion, Maxillary lateral inciso...	ORPHA:1193
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Carious teeth	OMIM:615887
Lissencephaly, X-Linked, 2	Wide anterior fontanel, Long upper lip, High palate, Micrognathia, Long philtrum, Thin upper lip ...	OMIM:300215
Tetrasomy 12P	Abnormal soft palate morphology, Delayed eruption of teeth, Everted lower lip vermilion, Short ne...	ORPHA:884
White-Sutton Syndrome	Thin vermilion border, Short philtrum, Mandibular prognathia, Wormian bones, High palate, Microce...	OMIM:616364
Robinow Syndrome, Autosomal Dominant 2	Kyphoscoliosis, Dental crowding, Broad thumb, Mesomelia, Wide mouth, Short distal phalanx of fing...	OMIM:616331
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Wide anterior fontanel, Femoral bo...	OMIM:207410
Dentinogenesis Imperfecta, Shields Type Iii	Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p...	OMIM:125500
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Oligodontia, Exaggerated cup...	ORPHA:364577
Orofaciodigital Syndrome Xvii	Polydactyly, Retrognathia, High, narrow palate, Clubbing of fingers, Central Y-shaped metacarpal,...	OMIM:617926
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Hypodontia, Delayed eruption of teeth	ORPHA:1816
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Relative macrocephaly, Short long bone, Flat acetabular roof, Short...	OMIM:616300
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Radial deviation of finger, Dislocated radial head, Dental crowding, Short long bon...	OMIM:180700
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Short metacarpal, Fl...	OMIM:271665
Coffin-Siris Syndrome 6	Kyphoscoliosis, Retrognathia, High, narrow palate, Short philtrum, Micrognathia, Cleft palate, Cl...	OMIM:617808
Mycetoma	Vertebral compression fracture, Abnormal form of the vertebral bodies, Bone cyst, Abnormal append...	ORPHA:2583
Shprintzen-Goldberg Craniosynostosis Syndrome	Narrow palate, Osteopenia, Genu valgum, Dislocated radial head, Wide anterior fontanel, Genu recu...	OMIM:182212
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Broad thumb, Syndactyl...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Broad distal phalanx of finger, Dental crowding, Broad thumb, Syndactyl...	ORPHA:353277
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	High, narrow palate, Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Microcep...	OMIM:619880
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp...	OMIM:268305
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Osteopenia, Delayed eruption of teeth, Scoliosis, Gingivitis, Abnormality of the dentition, Cleft...	ORPHA:2314
Pseudohypoparathyroidism Type 1B	Diaphyseal sclerosis, Increased bone mineral density, Delayed eruption of teeth, Cortical subperi...	ORPHA:94089
Wrinkly Skin Syndrome	Osteopenia, Delayed eruption of teeth, Slender long bone, Wide anterior fontanel, Progressive mic...	OMIM:278250
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Kyphoscoliosis, Microcephaly, Carious teeth, Limb joint contracture, Hypodontia	OMIM:612079
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Decreased calvarial ossification, Multiple prenatal fractures, Wormian bones, Bowing of limbs due...	OMIM:259410
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Premature loss of teeth	OMIM:161000
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Premature loss of teeth, Dental crowding, Elbow flexion contracture, High palate, Ost...	OMIM:248370
Six2-Related Frontonasal Dysplasia	Macrocephaly, Absent/hypoplastic paranasal sinuses, Wide anterior fontanel, Prominent palatine ri...	ORPHA:488437
ERI1-related disease	Osteopenia, Limited elbow extension, Increased vertebral height, Clinodactyly of the 5th finger, ...	OMIM:608739
Developmental And Epileptic Encephalopathy 41	Microcephaly, Kyphoscoliosis, Flexion contracture, Delayed eruption of teeth	OMIM:617105
Bangstad Syndrome	Progressive cerebellar ataxia, Goiter, Primary gonadal insufficiency, Small for gestational age, ...	OMIM:210740
Dyssegmental Dysplasia, Silverman-Handmaker Type	Clubbing of fingers, Hypoplastic pubic bone, Pterygium, Short long bone, Narrow mouth, Limitation...	ORPHA:1865
Acth-Independent Macronodular Adrenal Hyperplasia 2	Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight...	OMIM:615954
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Joint hypermobility, Short 5th finger, Long philtrum, Long toe, Micromelia, H...	ORPHA:508488
Raine Syndrome	Subperiosteal bone formation, Microdontia, Microcephaly, Wide mouth, Increased bone mineral densi...	OMIM:259775
Ritscher-Schinzel Syndrome 2	Clinodactyly of the 5th finger, Short philtrum, Wide anterior fontanel, Scoliosis, Relative macro...	OMIM:300963
Achondrogenesis, Type Ii	Short tubular bones of the hand, Hypoplastic iliac wing, Short long bone, Short ribs, Cleft palat...	OMIM:200610
Acrofrontofacionasal Dysostosis 2	Sacral dimple, Wide anterior fontanel, High palate, Microcephaly, Broad thumb, Hand polydactyly, ...	OMIM:239710
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, W...	OMIM:617925
Cohen Syndrome	High, narrow palate, Genu valgum, Cubitus valgus, Short metatarsal, Short philtrum, Tapered finge...	OMIM:216550
Gomez-Lopez-Hernandez Syndrome	Thin vermilion border, Wide anterior fontanel, High palate, Malar flattening, Smooth philtrum, Wo...	OMIM:601853
Type 1 Diabetes Mellitus	Diabetes mellitus, Hyperglycemia	OMIM:222100
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Polydactyly, Supernumerary tooth, Retrognathia, Widely spaced teeth, Short 5th toe, 2-4 toe cutan...	ORPHA:268261
Nestor-Guillermo Progeria Syndrome	Thin vermilion border, Limited elbow movement, Progressive clavicular acroosteolysis, Dental malo...	OMIM:614008
Junctional Epidermolysis Bullosa Inversa	Enamel hypoplasia, Carious teeth, Oral mucosal blisters	ORPHA:79405
Antley-Bixler Syndrome	Delayed cranial suture closure, Femoral bowing, Narrow mouth, Joint stiffness, Camptodactyly of f...	ORPHA:83
Marden-Walker Syndrome	High, narrow palate, Wide anterior fontanel, Scoliosis, High palate, Narrow mouth, Camptodactyly,...	OMIM:248700
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il...	OMIM:271640
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Joint contracture of the 5th finger, Scoliosis, Kyphosis, Camptodactyly of finger, Carious teeth,...	ORPHA:1883
Campomelic Dysplasia	Fibular hypoplasia, Macrocephaly, Poorly ossified cervical vertebrae, 11 pairs of ribs, Tracheoma...	ORPHA:140
Apert Syndrome	Limited elbow movement, Broad thumb, Bifid uvula, Syndactyly, Craniosynostosis, Narrow palate, Po...	OMIM:101200
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus	OMIM:610582
Idiopathic Congenital Hypothyroidism	Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Large posterior...	ORPHA:95717
Distal Duplication 18Q	Clinodactyly of the 5th finger, High palate, Abnormal dental morphology, Carious teeth, Micrognat...	ORPHA:1716
Short Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, Weight loss, Insulin resistanc...	ORPHA:3163
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Short greater sciatic notch, Wide anterior fontanel, Femoral bowi...	ORPHA:1860
Acquired Generalized Lipodystrophy	Hyperinsulinemia, Panniculitis, Generalized lipodystrophy, Calf muscle pseudohypertrophy, Insulin...	ORPHA:79086
Familial Adenomatous Polyposis 1	Supernumerary tooth, Carious teeth, Eruption failure, Odontoma	OMIM:175100
Werner Syndrome	Lipoatrophy, Thyroid carcinoma, Secondary amenorrhea, Slender build, Type II diabetes mellitus, H...	ORPHA:902
Lipodystrophy, Congenital Generalized, Type 4	Muscular dystrophy, Hyperinsulinemia, Skeletal muscle hypertrophy, Failure to thrive, Centrally n...	OMIM:613327
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology, Wide anterior fontanel, Microcephaly, Prominence of the premax...	OMIM:614886
Hajdu-Cheney Syndrome	Kyphoscoliosis, Dislocated radial head, Biconcave vertebral bodies, Crowded carpal bones, Patholo...	OMIM:102500
Teebi Hypertelorism Syndrome 1	Dental crowding, Coronal craniosynostosis, Micrognathia, Natal tooth, Long philtrum, Sagittal cra...	OMIM:145420
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Clinodactyly of the 5th finger, Tooth malposition, Metaphyseal cupping, Clubbing of f...	OMIM:156400
Congenital Disorder Of Glycosylation, Type Iig	Kyphoscoliosis, Progressive microcephaly, Short long bone, Glossoptosis, Microcephaly, Broad femo...	OMIM:611209
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Mucopolysaccharidosis, Type Vi	Kyphoscoliosis, Hypoplastic iliac wing, Flared iliac wing, Joint stiffness, Metaphyseal irregular...	OMIM:253200
Intellectual Developmental Disorder, Autosomal Dominant 21	Thin vermilion border, Sacral dimple, Incisor macrodontia, Narrow mouth, Microcephaly, Cleft pala...	OMIM:615502
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Femoral bowing, Tibial bowing, Short long bone, Short metacarpal, J...	OMIM:608940
Greig Cephalopolysyndactyly Syndrome	1-3 toe syndactyly, Y-shaped metatarsals, Metopic synostosis, Delayed cranial suture closure, Pos...	OMIM:175700
Acrocallosal Syndrome	Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Bifid di...	OMIM:200990
Craniosynostosis 4	Retrognathia, Lambdoidal craniosynostosis, Macrocephaly, Bicoronal synostosis, Coronal craniosyno...	OMIM:600775
Vascular Malformation, Primary Intraosseous	Gingival bleeding, Ectopic tooth eruption	OMIM:606893
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Dysdiadochokinesis, Cognitive impairment, Hypothyroidism, Ataxia, Insulin resist...	OMIM:616541
Lenz-Majewski Hyperostotic Dwarfism	Relative macrocephaly, Microcephaly, Syndactyly, Joint hypermobility, Elbow flexion contracture, ...	OMIM:151050
Melnick-Needles Syndrome	Limited elbow extension, Kyphoscoliosis, Genu valgum, Osteolytic defects of the phalanges of the ...	OMIM:309350
Flynn-Aird Syndrome	Bone cyst, Scoliosis, Kyphosis, Joint stiffness, Carious teeth	ORPHA:2047
Amelogenesis Imperfecta, Type Ih	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:616221
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Micrognathia, Natal tooth, Sagittal craniosynostosis	OMIM:616901
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Large fontanelles, Wormian bones, Scoliosis, High palate, Bowing of the long bones, C...	OMIM:612940
Marshall Syndrome	Small proximal tibial epiphyses, Bifid uvula, Irregular femoral epiphysis, Long philtrum, Irregul...	OMIM:154780
Eec Syndrome	Orofacial cleft, Proximal placement of thumb, Aplasia/Hypoplasia of the thumb, Finger syndactyly,...	ORPHA:1896
Faciocardiomelic Syndrome	Osteopenia, Polydactyly, Slender long bone, Cuboid-shaped vertebral bodies, Hypoplastic pelvis, T...	OMIM:612731
Neu-Laxova Syndrome	Rickets, Retrognathia, Osteopenia, Pterygium, Abnormality of the philtrum, Scoliosis, Everted low...	ORPHA:2671
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Ankle flexion contracture, Progressive microcephaly, Microcephaly, Small anterior fontanelle, Mic...	OMIM:617802
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Short middle phalanx of finger, Tho...	OMIM:309620
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Hypoplasia of the odontoid process, Cleft palate, Kyphoscoliosis	OMIM:612913
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Abnormal palate morphology, Thick lower lip vermilion, Cubitus valgus, Narrow philtrum, Abnormal ...	ORPHA:163654
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Pathologic ...	OMIM:601559
Glucocorticoid Resistance, Generalized	Increased circulating androstenedione concentration, Increased serum testosterone level, Infertil...	OMIM:615962
Autosomal Dominant Kenny-Caffey Syndrome	Postnatal macrocephaly, Calvarial osteosclerosis, Delayed cranial suture closure, Decreased skull...	ORPHA:93325
Spondylocarpotarsal Synostosis Syndrome	Hyperlordosis, Short metacarpal, Tarsal synostosis, Bowed humerus, Scoliosis, Cleft palate, Block...	OMIM:272460
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Spondylolisthesis, Mandibular prognathia, Short long bone, Limitation of ...	OMIM:252600
Multiple Pterygium-Malignant Hyperthermia Syndrome	Advanced eruption of teeth, Finger syndactyly, Broad alveolar ridges, Scoliosis, Exaggerated cupi...	ORPHA:2215
Rothmund-Thomson Syndrome Type 2	Aplasia/hypoplasia involving bones of the upper limbs, Short metacarpal, Microdontia, Tooth agene...	ORPHA:221016
Smith-Kingsmore Syndrome	Short proximal phalanx of finger, Macrocephaly, Rhizomelia, Wide anterior fontanel, Short distal ...	OMIM:616638
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Hypoplastic sacrum, Macrocephaly, Rhizomelia, Short metatarsal, Mandibular prognathia...	OMIM:614813
Rabson-Mendenhall Syndrome	Increased circulating androgen concentration, Increased serum testosterone level, Fasting hypogly...	ORPHA:769
Craniosynostosis 6	Spina bifida occulta, Bicoronal synostosis, Right unilambdoid synostosis, Delayed cranial suture ...	OMIM:616602
Fibrochondrogenesis	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal form of the vertebral bod...	ORPHA:2021
Osteogenesis Imperfecta, Type X	Osteopenia, Genu valgum, Fibular bowing, Rhizomelia, Vertebral compression fracture, Platyspondyl...	OMIM:613848
Autosomal Recessive Cutis Laxa Type 2A	Secondary microcephaly, Wide anterior fontanel, Delayed cranial suture closure, Congenital hip di...	ORPHA:357058
Acrocephalopolydactyly	Genu recurvatum, Short long bone, Limb undergrowth, Brachydactyly, Premature closure of fontanell...	ORPHA:221054
Aromatase Deficiency	Male infertility, Hypergonadotropic hypogonadism, Eunuchoid habitus, Obesity, Type II diabetes me...	ORPHA:91
Mpi-Cdg	Hypothyroidism, Hyperinsulinemic hypoglycemia, Failure to thrive	ORPHA:79319
Tenorio Syndrome	Osteopenia, Macrocephaly, Recurrent aphthous stomatitis, Mandibular prognathia, Delayed cranial s...	OMIM:616260
Osteogenesis Imperfecta, Type Xx	Narrow palate, Retrognathia, Kyphoscoliosis, Vertebral compression fracture, Mandibular prognathi...	OMIM:618644
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:612529
Camurati-Engelmann Disease	Abnormal femur morphology, Hyperlordosis, Kyphosis, Craniofacial osteosclerosis, Coxa valga, Abno...	ORPHA:1328
Neuronal Intestinal Pseudoobstruction	Natal tooth	ORPHA:99811
Distal Duplication 5Q	Hypoplasia of the ulna, Thin vermilion border, Hypoplasia of the radius, Narrow mouth, Microcepha...	ORPHA:96097
Osteogenesis Imperfecta	Reduced bone mineral density, Abnormal femur morphology, Abnormal hip bone morphology, Abnormal f...	ORPHA:666
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Dental crowding, Arachnodactyly, Paranasal sinus hypoplasia, Bifid uv...	OMIM:300373
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Pterygium, Osteolysis involving bones of the lower limbs, Osteolys...	ORPHA:371428
Trigonocephaly 1	High, narrow palate, Lumbar hemivertebrae, Metopic synostosis, Microcephaly, Long philtrum, Crani...	OMIM:190440
Microphthalmia, Lenz Type	Orofacial cleft, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Delayed eruption o...	ORPHA:568
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Thin vermilion border, Abnormal palate morphology, Thick lower lip vermilion, Abnormal interverte...	ORPHA:2701
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Scoliosis, Osteoporosis, Ankyloglossia, Micrognathia	OMIM:619525
Epidermolysis Bullosa, Junctional 1B, Severe	Enamel hypoplasia, Carious teeth, Syndactyly	OMIM:226700
Lessel-Kreienkamp Syndrome	Clinodactyly of the 5th finger, Wide cranial sutures, Open mouth, Dental malocclusion, Thin upper...	OMIM:619149
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Retrognathia, Aplasia/hypoplasia of the femur, Broad distal phalanx of finger, Abnormal form of t...	ORPHA:2636
Gardner Syndrome	Supernumerary tooth, Odontoma, Abnormality of the dentition, Multiple unerupted teeth	ORPHA:79665
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Short long bone, Hyperlordosis, Kyphosis, Metaphyseal irregularity, Joint hypermo...	OMIM:618019
Lipodystrophy, Congenital Generalized, Type 1	Hyperinsulinemia, Generalized muscular appearance from birth, Decreased serum leptin, Reduced sub...	OMIM:608594
Anti-Glomerular Basement Membrane Disease	Arthritis, Persistence of primary teeth	ORPHA:375
Lateral Meningocele Syndrome	High, narrow palate, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Dental cro...	ORPHA:2789
Odontomicronychial Dysplasia	Premature loss of primary teeth, Premature eruption of permanent teeth, Carious teeth, Abnormalit...	ORPHA:1811
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Dubowitz Syndrome	Sandal gap, Microcephaly, Broad thumb, Wide mouth, Abnormality of thumb phalanx, Joint hypermobil...	ORPHA:235
Acrocallosal Syndrome	Wide anterior fontanel, Macrocephaly, Triphalangeal thumb, Postaxial hand polydactyly	ORPHA:36
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Sandal gap, Conical tooth, Oligodontia, Microdontia, Persistence of primary teeth, Enamel hypopla...	OMIM:618727
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Macrocephaly, Thick lower lip vermilion, Mesiodens, Narrow mouth, Long philtrum	ORPHA:314647
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Proximal amyotrophy, Distal sensory impairment, Hyperglycemia	OMIM:604484
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Idiopathic Juvenile Osteoporosis	Vertebral compression fracture, Kyphosis, Recurrent fractures, Osteoporosis	ORPHA:85193
Post-Traumatic Pituitary Deficiency	Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes...	ORPHA:95619
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Carpal bone hypoplasia, Genu valgum, Metaphyseal cupping, Narrow iliac wing, Short long bone, Sho...	OMIM:250420
Sulfite Oxidase Deficiency, Isolated	Microcephaly, Delayed eruption of teeth	OMIM:272300
Lipodystrophy, Congenital Generalized, Type 2	Decreased fertility, Hyperinsulinemia, Generalized muscular appearance from birth, Decreased seru...	OMIM:269700
Genitopatellar Syndrome	Knee flexion contracture, Delayed eruption of teeth, Hypoplastic ilia, Hypoplastic ischia, Microc...	ORPHA:85201
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Confusion, Failure to thr...	ORPHA:71212
Femoral-Facial Syndrome	Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Syndactyly, Absent verteb...	OMIM:134780
Gapo Syndrome	Abnormal metaphysis morphology, Abnormal palate morphology, Delayed eruption of teeth, Abnormal f...	ORPHA:2067
Amelogenesis Imperfecta, Type If	Amelogenesis imperfecta, Enamel hypoplasia, Dental enamel pits, Abnormality of dental color	OMIM:616270
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Tyrosinemia Type 1	Rickets of the lower limbs	ORPHA:882
Woodhouse-Sakati Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Prematu...	ORPHA:3464
Acrofacial Dysostosis, Catania Type	Abnormal palate morphology, Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndacty...	ORPHA:1786
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Abnormal dental morphology, Hypoplasia of teeth, Premature loss of primary teeth	ORPHA:248
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Secondary microcephaly, Clinodactyly of the 5th finger, Scoliosis, Dental crowding, Eruption fail...	ORPHA:476126
Neonatal Adrenoleukodystrophy	Wide anterior fontanel, Macrocephaly, Abnormal palate morphology	ORPHA:44
Occipital Horn Syndrome	Large iliac wing, Absent tibia, Kyphosis, Aplasia/hypoplasia of the humerus, Long philtrum, Joint...	ORPHA:198
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly, Carious teeth, Bilateral cleft palate, Conical tooth	ORPHA:1997
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Proximal placement of thumb, Tracheomalacia, Wide anterior fontanel, Microcephaly, Short palm, Mi...	OMIM:217980
Oslam Syndrome	Carious teeth, Clinodactyly of the 5th finger, Radioulnar synostosis	ORPHA:2760
Liang-Wang Syndrome	Gingival overgrowth, Everted lower lip vermilion, Downturned corners of mouth, Wide mouth, Macrog...	OMIM:618729
Chromosome 13Q33-Q34 Deletion Syndrome	Advanced eruption of teeth, Short philtrum, Delayed eruption of teeth, Gingival overgrowth, High ...	OMIM:619148
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Narrow palate, Retrognathia, Spina bifida occulta, Delayed eruption of teeth, Conical incisor, Hy...	OMIM:235510
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pterygium, Short long bone, Narrow mouth, Bowing of the long bones, Anisospondyly, Micromelia, Mi...	OMIM:224410
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Multiple joint dislocation, Microdontia, Arachnodactyly, Slender long bones with ...	ORPHA:536467
Garg-Mishra Progeroid Syndrome	Secondary microcephaly, Slender long bone, Dental crowding, Persistent open anterior fontanelle, ...	OMIM:620601
Hypothyroidism, Congenital, Nongoitrous, 4	Wide anterior fontanel, Macroglossia	OMIM:275100
Potocki-Shaffer Syndrome	Short philtrum, 2-5 finger cutaneous syndactyly, Downturned corners of mouth, Brachydactyly, Worm...	OMIM:601224
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia	OMIM:179830
Rothmund-Thomson Syndrome Type 1	Finger symphalangism, Osteopenia, Abnormal ulnar metaphysis morphology, Patellar hypoplasia, Meta...	ORPHA:221008
Cranioectodermal Dysplasia 3	Widely spaced teeth, Macrocephaly, Rhizomelia, Sandal gap, 2-3 toe syndactyly, Everted lower lip ...	OMIM:614099
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Carious teeth, Calvarial hyperostosis	OMIM:612714
Silver-Russell Syndrome	Cachexia, Precocious puberty, Failure to thrive in infancy, Obesity, Decreased muscle mass, Prema...	ORPHA:813
Xylt1-Cdg	Joint dislocation, Flared metaphysis, Short clavicles, Relative macrocephaly, Short long bone, Mi...	ORPHA:370930
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Wrist swelling, Osteoarthritis of the elbow, Knee osteoarthritis, Bone cyst, Polyarticular arthro...	ORPHA:2848
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow palate, Retrognathia, Macrocephaly, Short philtrum, Hypodontia, Scoliosis, Thoracic kyphos...	OMIM:620250
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Opitz-Kaveggia Syndrome	Radial deviation of finger, Dental crowding, Relative macrocephaly, Prominent fingertip pads, Bro...	OMIM:305450
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l...	ORPHA:2256
Dermatitis Herpetiformis	Dental enamel pits, Erosion of oral mucosa, Recurrent fractures, Delayed eruption of teeth	ORPHA:1656
Prader-Willi Syndrome	Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Impaire...	OMIM:176270
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Abnormal hip bone morphology, Mandibular prognathia, Narrow mouth, Microcephaly, Carious teeth, D...	ORPHA:1110
3Mc Syndrome 1	Caudal appendage, Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Sacral dimple, Spi...	OMIM:257920
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Micrognathia, Delayed cranial suture closure	ORPHA:1129
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Sacral dimple, Short long bone, Vertebral segmentation defect, Vertebral fusion	OMIM:618845
Stickler Syndrome	Reduced bone mineral density, Spondylolisthesis, Abnormal form of the vertebral bodies, Glossopto...	ORPHA:828
Silver-Russell Syndrome 1	Clinodactyly of the 5th finger, Delayed cranial suture closure, Short middle phalanx of the 5th f...	OMIM:180860
Camurati-Engelmann Disease	Genu valgum, Diaphyseal sclerosis, Increased bone mineral density, Mandibular prognathia, Scolios...	OMIM:131300
Hartsfield Syndrome	Hypoplasia of the frontal bone, Ectrodactyly, Microcephaly, Cleft upper lip, Cleft palate, Syndac...	OMIM:615465
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Micrognath...	OMIM:616367
X-Linked Intellectual Disability Due To Gria3 Mutations	Narrow palate, Macrocephaly, Short philtrum, Genu recurvatum, Mandibular prognathia, Scoliosis, S...	ORPHA:364028
Monosomy 18P	Kyphoscoliosis, Short philtrum, Tooth malposition, Microcephaly, Carious teeth, Micrognathia, Cle...	ORPHA:1598
Whipple Disease	Erectile dysfunction, Myositis, Cachexia, Hypothyroidism, Ataxia, Insulin resistance	ORPHA:3452
Ohdo Syndrome	Thin vermilion border, Widely spaced teeth, Clinodactyly of the 5th finger, Narrow mouth, Hypopla...	OMIM:249620
4H Leukodystrophy	Hypodontia, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:289494
Menkes Disease	Wormian bones, Metaphyseal spurs, Osteoporosis, Metaphyseal widening, Joint hypermobility	OMIM:309400
Multiple Synostoses Syndrome 1	Proximal/middle symphalangism of 5th toe, Radial deviation of finger, Dislocated radial head, Sho...	OMIM:186500
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Reduced bone mineral density, Hypophosphatemic rickets, Osteomalacia, Pathologic fracture, Bowing...	ORPHA:157215
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Kyph...	ORPHA:508533
Seckel Syndrome 10	Glucose intolerance, Impaired glucose tolerance, Glycosuria, Elevated circulating follicle stimul...	OMIM:617253
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Oliver Syndrome	Clinodactyly of the 5th finger, Short philtrum, Mandibular prognathia, Elbow flexion contracture,...	ORPHA:2920
Pyknoachondrogenesis	Increased head circumference, Short iliac bones, Craniofacial hyperostosis, Abnormality of mouth ...	ORPHA:3003
Hypophosphatasia, Infantile	Unossified vertebral bodies, Metaphyseal cupping, Short ribs, Abnormality of the dentition, Micro...	OMIM:241500
Microphthalmia With Limb Anomalies	Sandal gap, Abnormal form of the vertebral bodies, Tibial bowing, Short long bone, Broad thumb, H...	ORPHA:1106
Lipodystrophy, Familial Partial, Type 7	Decreased adipose tissue around neck, Distal sensory impairment, Loss of subcutaneous adipose tis...	OMIM:606721
Cdags Syndrome	Large fontanelles, Lambdoidal craniosynostosis, Short clavicles, Delayed cranial suture closure, ...	OMIM:603116
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hypoglycemia, Hyperinsulinemia, Retrograde ejaculation	ORPHA:230
Zellweger Syndrome	Macrocephaly, Epiphyseal stippling, Wide anterior fontanel, High palate, Microcephaly, Micrognathia	ORPHA:912
8P Inverted Duplication/Deletion Syndrome	Retrognathia, High, narrow palate, Clinodactyly of the 5th finger, Scoliosis, Everted lower lip v...	ORPHA:96092
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Femoral bowing, Tibial bowing, Short metacarpa...	OMIM:304120
Apc-Related Attenuated Familial Adenomatous Polyposis	Supernumerary tooth, Odontoma	ORPHA:247806
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Large fontanelles, Osteolytic defects of the phalanges of the hand, Arthritis, Arthro...	OMIM:259100
Cockayne Syndrome Type 2	Hypoplasia of the primary teeth, Mandibular prognathia, Scoliosis, Kyphosis, Enamel hypoplasia, F...	ORPHA:90322
Saethre-Chotzen Syndrome	Narrow palate, Clinodactyly of the 5th finger, Triphalangeal thumb, Abnormal form of the vertebra...	ORPHA:794
Parietal Foramina 1	Macrocephaly, Cleft upper lip, Wormian bones, Cleft palate	OMIM:168500
Familial Multiple Lipomatosis	Insulin resistance, Increased adipose tissue, Lipodystrophy	ORPHA:199276
Kleefstra Syndrome 1	Tracheobronchomalacia, Mandibular prognathia, Everted lower lip vermilion, Persistence of primary...	OMIM:610253
Heart And Brain Malformation Syndrome	High, narrow palate, Thick lower lip vermilion, Wide anterior fontanel, Everted lower lip vermili...	OMIM:616920
Spondylometaphyseal Dysplasia, Algerian Type	Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Flared femoral metaphysi...	OMIM:184253
Emanuel Syndrome	Kyphoscoliosis, Sacral dimple, Broad jaw, Delayed eruption of teeth, Tooth malposition, Dental cr...	ORPHA:96170
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormality of the dentition, Carious teeth, Abnormal oral mucosa morphology, Hypodontia, Ankylos...	ORPHA:659
Aarskog-Scott Syndrome	Radial deviation of finger, Short neck, Hyperextensibility of the finger joints, Short 5th finger...	OMIM:305400
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Kyphoscoliosis, Hypophosphatemic rickets, Abnormality of dental color, Abnormal finge...	OMIM:163200
Apert Syndrome	Narrow palate, Large fontanelles, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Fin...	ORPHA:87
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Rubinstein-Taybi Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, High palate, Abnormality of the dentition, Mic...	ORPHA:783
De Barsy Syndrome	Osteopenia, Kyphoscoliosis, Adducted thumb, Delayed eruption of teeth, Progressive microcephaly, ...	ORPHA:2962
Tetrasomy 5P	Macrocephaly, Clinodactyly of the 5th finger, Short hallux, Wide anterior fontanel, High palate, ...	ORPHA:3309
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Maturity-onset diabetes of the young, Hyperglycemia	OMIM:609812
Meier-Gorlin Syndrome 5	Slender long bone, Prominent metopic ridge, Hypoplasia of the maxilla, Microcephaly, Micrognathia...	OMIM:613805
Ectodermal Dysplasia/Short Stature Syndrome	Hypodontia, Enamel hypoplasia, Delayed eruption of teeth	OMIM:616029
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Oligodontia, Natal tooth, Hypodontia, Hip dislocation	OMIM:614381
Recon Progeroid Syndrome	Thin vermilion border, Proximal placement of thumb, Dental crowding, Microcephaly, Arachnodactyly...	OMIM:620370
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Conical tooth, Everted lower lip vermilion, Microdontia, Hypoplasia ...	OMIM:305100
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone...	OMIM:250220
Mucolipidosis Ii Alpha/Beta	Short long bone, Flat acetabular roof, Flared iliac wing, Wide mouth, Bullet-shaped phalanges of ...	OMIM:252500
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, Micromelia, Short uvula, Short lingual frenulum, Short long bone, High palate, Flat ...	OMIM:614091
Familial Adenomatous Polyposis	Supernumerary tooth, Eruption failure, Odontoma, Abnormality of the dentition, Abnormal cementum ...	ORPHA:733
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wing, Short long bone, Wi...	ORPHA:2502
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Delayed cranial suture closure, Wormian bones, Joint hypermobility, Adducted thumb, O...	OMIM:616603
Kabuki Syndrome 2	Joint hypermobility, Short 5th finger, Prominent fingertip pads, High palate, Microcephaly, Micro...	OMIM:300867
Amelocerebrohypohidrotic Syndrome	Amelogenesis imperfecta, Abnormal dental enamel morphology, Yellow-brown discoloration of the tee...	ORPHA:1946
Mccune-Albright Syndrome	Abnormal femur morphology, Abnormal facial skeleton morphology, Aneurysmal bone cyst, Scoliosis, ...	ORPHA:562
Multiple Endocrine Neoplasia Type 4	Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop...	ORPHA:276152
Retinitis Pigmentosa	Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism	ORPHA:791
Symptomatic Form Of Hfe-Related Hemochromatosis	Erectile dysfunction, Decreased libido, Infertility, Testicular atrophy, Hypothyroidism, Decrease...	ORPHA:465508
Epidermolysis Bullosa, Lethal Acantholytic	Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Natal tooth, Synd...	OMIM:609638
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Advanced eruption of teeth, Widely spaced teeth, Macrocephaly, Progressive microcephaly, Everted ...	OMIM:617865
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Den Hoed-De Boer-Voisin Syndrome	Amelogenesis imperfecta, Secondary microcephaly, Widely spaced teeth, Sandal gap, Delayed eruptio...	OMIM:619229
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Emanuel Syndrome	Sacral dimple, Broad jaw, Dental crowding, Scoliosis, High palate, Kyphosis, Congenital hip dislo...	OMIM:609029
Turnpenny-Fry Syndrome	Hypoplasia of the primary teeth, Dental crowding, Relative macrocephaly, Thoracic kyphoscoliosis,...	OMIM:618371
Orofaciodigital Syndrome Xix	Narrow palate, Retrognathia, Cleft soft palate, Midline notching of lower lip, High palate, Narro...	OMIM:620107
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Irregular menstruation, Decreased circulating ACTH concentration, Memory impairment, Macronodular...	ORPHA:189427
Andersen-Tawil Syndrome	Clinodactyly of the 5th toe, Abnormality of dental color, Dental crowding, Oligodontia, 2-3 toe s...	ORPHA:37553
Jalili Syndrome	Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color	ORPHA:1873
Monosomy 9Q22.3	Polydactyly, Orofacial cleft, Macrocephaly, Odontogenic keratocysts of the jaw, Delayed eruption ...	ORPHA:77301
Mucopolysaccharidosis, Type Ii	Thick lower lip vermilion, Widely spaced teeth, Macrocephaly, Delayed eruption of teeth, Tracheob...	OMIM:309900
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, M...	OMIM:266920
Cog1-Cdg	Osteopenia, Kyphoscoliosis, Butterfly vertebrae, Rhizomelia, Progressive microcephaly, Short long...	ORPHA:263508
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Glycosuria, Ketotic hypoglycemia, Failure to thrive, Postprandial hyperglycemia	ORPHA:2089
Stuve-Wiedemann Syndrome 2	Scoliosis, Short long bone, Bowing of the long bones, Camptodactyly	OMIM:619751
Bardet-Biedl Syndrome 9	Obesity, Truncal obesity, Hyperglycemia, Irregular menstruation	OMIM:615986
Gapo Syndrome	High, narrow palate, Thick lower lip vermilion, Wide anterior fontanel, Eruption failure, Delayed...	OMIM:230740
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Short philtrum, Delayed eruption of teeth, High palate, Everted lower lip vermilion, Microcephaly...	OMIM:615866
Mandibuloacral Dysplasia With Type A Lipodystrophy	Large fontanelles, Wormian bones, Osteolytic defects of the distal phalanges of the hand, Limitat...	ORPHA:90153
Hurler Syndrome	Diaphyseal undertubulation, Cranial hyperostosis, Macrocephaly, Short clavicles, Gingival overgro...	OMIM:607014
Lateral Meningocele Syndrome	Dental crowding, Wormian bones, Scoliosis, High palate, Kyphosis, Biconcave vertebral bodies, Sho...	OMIM:130720
Sweeney-Cox Syndrome	Short philtrum, Wide anterior fontanel, Short clavicles, High palate, Narrow mouth, Median cleft ...	OMIM:617746
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Joint subluxation, Hyperextensibility of the finger joints, Wormian bones, Hyperlordosis, Scolios...	OMIM:617821
Spondyloenchondrodysplasia	Platyspondyly, Juvenile rheumatoid arthritis, Delayed eruption of teeth, Arthritis, Hypoplastic i...	ORPHA:1855
Prolidase Deficiency	Reduced bone mineral density, Genu valgum, Abnormal hip bone morphology, Carious teeth, Micrognat...	ORPHA:742
Sotos Syndrome	Narrow palate, Advanced eruption of teeth, High, narrow palate, Macrocephaly, Genu valgum, Mandib...	OMIM:117550
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Dent Disease	Rickets, Delayed epiphyseal ossification, Enlargement of the wrists, Enlargement of the ankles, E...	ORPHA:1652
Robinow Syndrome	Kyphoscoliosis, Mesomelic arm shortening, Acromesomelia, Broad alveolar ridges, Dental crowding, ...	ORPHA:97360
Congenital Disorder Of Glycosylation, Type If	Thin vermilion border, Wide anterior fontanel, Flexion contracture, Microcephaly	OMIM:609180
Congenital Disorder Of Glycosylation, Type Ib	Hyperinsulinemic hypoglycemia, Failure to thrive	OMIM:602579
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Anterior tibial bowing, Dislocated radial head, Hypoplastic ...	OMIM:605274
Leprechaunism	Hyperinsulinemia, Fasting hypoglycemia, Decreased body weight, Increased circulating renin level,...	ORPHA:508
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Delayed eruption of teeth	ORPHA:2238
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Recurrent fractures, Osteomalacia	OMIM:613388
Bardet-Biedl Syndrome 1	Nephrogenic diabetes insipidus, Left ventricular hypertrophy, Obesity, Ataxia, Hypogonadism, Abdo...	OMIM:209900
Laron Syndrome	Short long bone, Limb undergrowth, Abnormal joint morphology	OMIM:262500
Localized Junctional Epidermolysis Bullosa	Abnormality of dental color, Enamel hypoplasia, Dental enamel pits, Limb joint contracture	ORPHA:251393
Ellis Van Creveld Syndrome	Thin vermilion border, Genu valgum, Cubitus valgus, Delayed eruption of teeth, Conical incisor, A...	ORPHA:289
Holoprosencephaly 9	Agenesis of incisor, Thick lower lip vermilion, Solitary median maxillary central incisor, Short ...	OMIM:610829
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Macrocephaly, Delaye...	ORPHA:667
2Q31.1 Microdeletion Syndrome	Sandal gap, Everted lower lip vermilion, Kyphosis, Microcephaly, Long philtrum, Abnormal fibula m...	ORPHA:251014
Pseudohypoparathyroidism Type 1C	Short 4th metacarpal, Short metatarsal, Delayed eruption of teeth, Increased bone mineral density...	ORPHA:79444
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Short philtrum, Mandibular prognathia, Calcaneovalgus deformity, Prominent metopic ridge, Microce...	ORPHA:521445
Mitochondrial Complex I Deficiency, Nuclear Type 18	Wide anterior fontanel, Macrocephaly	OMIM:618240
Monosomy 13Q34	Metrorrhagia, Insulin resistance, Obesity	ORPHA:96168
Singleton-Merten Syndrome 1	Eruption failure, Short dental root, Expanded phalanges with widened medullary cavities, Coxa val...	OMIM:182250
Atypical Werner Syndrome	Delayed puberty, Lipoatrophy, Calf muscle hypertrophy, Hypogonadism, Fasting hyperinsulinemia, Ch...	ORPHA:79474
Rhyns Syndrome	Osteopenia, Short long bone, Osteoporosis, Short femoral neck, Radial bowing, Brachydactyly	OMIM:602152
Orofacial Cleft 15	Palate fistula, Bilateral cleft palate, Agenesis of lateral incisor, Bilateral cleft lip	OMIM:616788
Lacrimoauriculodentodigital Syndrome 2	Abnormal thumb morphology, Conical tooth, Microdontia, Carious teeth, Duplication of thumb phalan...	OMIM:620192
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Kyphoscoliosis, Prominent fingertip pads, Glossoptosis, Micr...	OMIM:602535
Hypokalemic Periodic Paralysis	Adrenocortical adenoma, Abnormal muscle fiber morphology, Postprandial hyperglycemia, Increased i...	ORPHA:681
Mucopolysaccharidosis, Type Vii	Narrow greater sciatic notch, Large iliac wing, Kyphosis, Joint stiffness, Proximal tapering of m...	OMIM:253220
Iniencephaly	Rocker bottom foot, Orofacial cleft, Rhizomelia, Hyperlordosis, Narrow mouth, Mandibular aplasia,...	ORPHA:63259
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Carious teeth, Flexion contracture, Narrow foramen obturatorium, Osteolysis	ORPHA:220393
Meier-Gorlin Syndrome 7	Bowing of the legs, Dislocated radial head, Wide anterior fontanel, Progressive microcephaly, Clu...	OMIM:617063
Baraitser-Winter Cerebrofrontofacial Syndrome	Osteochondrosis, Retrognathia, Thin vermilion border, Large fontanelles, Delayed cranial suture c...	ORPHA:2995
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Abnormal dental enamel morphology, Bilateral cleft palate, Hyperlordosis, Abno...	ORPHA:3253
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Failure to thrive, Hypoglycemia, Hyperglycemia, Progressive neurologic deterioration	OMIM:615453
Beaulieu-Boycott-Innes Syndrome	Microcephaly, Carious teeth, Velopharyngeal insufficiency, Micrognathia, Dental malocclusion	OMIM:613680
Microphthalmia, Syndromic 3	Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Vertebral fusion	OMIM:206900
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth	OMIM:129550
Wrinkly Skin Syndrome	Osteopenia, Kyphoscoliosis, Delayed eruption of teeth, Progressive microcephaly, Wormian bones, H...	ORPHA:2834
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Osteoporosis	OMIM:560000
Dentinogenesis Imperfecta 1	Yellow-brown discoloration of the teeth, Dentinogenesis imperfecta	OMIM:125490
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Restrictive Dermopathy 1	Rocker bottom foot, Kyphoscoliosis, Large fontanelles, Wide anterior fontanel, Short clavicles, T...	OMIM:275210
Bloom Syndrome	Premature ovarian insufficiency, Male infertility, Azoospermia, Oligozoospermia, Adipose tissue l...	ORPHA:125
Alstrom Syndrome	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Diabetes insipidus, Hype...	OMIM:203800
Van Der Woude Syndrome 2	Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit	OMIM:606713
Dyskeratosis Congenita, Autosomal Recessive 1	Pterygium, Osteoporosis, Microdontia, Microcephaly, Carious teeth, Oral leukoplakia	OMIM:224230
Immunodeficiency 49	Wormian bones, Micrognathia, Natal tooth, Short philtrum	OMIM:617237
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Retrognathia, Thin lower lip vermilion, Abnormality of the dentition, Camptodactyly, Overlapping ...	ORPHA:363444
Peroxisome Biogenesis Disorder 1A (Zellweger)	Rocker bottom foot, High, narrow palate, Macrocephaly, Cubitus valgus, Epiphyseal stippling, Wide...	OMIM:214100
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Retrognathia, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hy...	ORPHA:96334
Alg9-Cdg	Narrow greater sciatic notch, Abnormal bone ossification, Rhizomelia, Flared metaphysis, Hitchhik...	ORPHA:79328
Peters-Plus Syndrome	Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Short metacarpal, Microc...	OMIM:261540
Tremor-Ataxia-Central Hypomyelination Syndrome	Hypodontia, Oligodontia, Delayed eruption of teeth	ORPHA:447896
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Camptodactyly of finger, Cleft palate,...	ORPHA:306542
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets	OMIM:211600
Kleefstra Syndrome Due To A Point Mutation	Thick lower lip vermilion, Tracheomalacia, Abnormality of the dentition, Microcephaly, Natal toot...	ORPHA:261652
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Camptodactyly, Micrognathia, Malar flattening, Dental malocclusion, Joint contracture of the hand	OMIM:608257
Familial Thyroid Dyshormonogenesis	Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Large posterior...	ORPHA:95716
Celiac Disease, Susceptibility To, 1	Rickets, Recurrent aphthous stomatitis, Stomatitis, Osteoporosis, Enamel hypoplasia	OMIM:212750
Mandibuloacral Dysplasia With Type B Lipodystrophy	Delayed puberty, Insulin resistance, Calcinosis, Generalized lipodystrophy	ORPHA:90154
Peroxisome Biogenesis Disorder 11A (Zellweger)	Wide anterior fontanel, Large fontanelles	OMIM:614883
Cutis Laxa, Autosomal Recessive, Type Iiia	Large fontanelles, Wormian bones, Scoliosis, Narrow mouth, Congenital hip dislocation, Wide crani...	OMIM:219150
Miller-Dieker Lissencephaly Syndrome	Polydactyly, Sacral dimple, Clinodactyly of the 5th finger, Delayed eruption of teeth, Camptodact...	OMIM:247200
Lethal Congenital Contracture Syndrome 10	Narrow palate, Stiff neck, Femoral bowing, High palate, Short long bone, Short neck, Micrognathia...	OMIM:617022
Thanatophoric Dysplasia, Type I	Macrocephaly, Platyspondyly, Short greater sciatic notch, Flared metaphysis, Femoral bowing, Shor...	OMIM:187600
Stüve-Wiedemann Syndrome	Flexion contracture of finger, Sacral dimple, Scoliosis, Elbow flexion contracture, Abnormality o...	ORPHA:3206
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Precocious puberty, ...	ORPHA:96182
Zimmermann-Laband Syndrome 1	Macrocephaly, Short philtrum, Delayed eruption of teeth, Gingival fibromatosis, Hyperextensibilit...	OMIM:135500
Steinert Myotonic Dystrophy	Facial diplegia, Impotence, Cognitive impairment, Abnormality of the tongue muscle, Decreased res...	ORPHA:273
Branchioskeletogenital Syndrome	Upper limb peromelia, Microcephaly, Bifid uvula, Craniosynostosis, Abnormality of the vertebral s...	ORPHA:1299
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Rhizomelia, Platyspondyly, Flared metaphysis, Scoliosis, Short long...	ORPHA:85167
Pseudohypoparathyroidism Type 1A	Short 4th metacarpal, Reduced bone mineral density, Short metatarsal, Delayed eruption of teeth, ...	ORPHA:79443
Yunis-Varon Syndrome	Rocker bottom foot, Broad secondary alveolar ridge, Absent sternal ossification, Abnormal finger ...	ORPHA:3472
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Conical incisor, Carious teeth, Enamel hypoplasia	OMIM:614564
Hyperparathyroidism, Transient Neonatal	Osteopenia, Subperiosteal bone formation, Fractured rib, Femoral bowing, Short long bone, Metaphy...	OMIM:618188
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Clinodactyly of the 5th finger, Conical tooth, Delayed eruption of teeth, Ab...	ORPHA:1071
Multiple Osteochondromas	Abnormal femur morphology, Limitation of knee mobility, Deformed forearm bones, Abnormal lower li...	ORPHA:321
Ane Syndrome	Kyphoscoliosis, Premature loss of teeth, Microcephaly, Carious teeth, Hypodontia, Multiple joint ...	ORPHA:157954
Atelis Syndrome 2	Attention deficit hyperactivity disorder, Hyperinsulinemia, Dysmetria, Elevated circulating thyro...	OMIM:620185
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Macrocephaly, Persistence of primary teeth	OMIM:619769
Incontinentia Pigmenti	Orofacial cleft, Spina bifida occulta, Delayed eruption of teeth, Finger syndactyly, Abnormal den...	ORPHA:464
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, 4-5 finger syndactyly, Camptodactyly of toe, Natal tooth, Cleft p...	ORPHA:158687
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets	OMIM:611590
Kleefstra Syndrome	Advanced eruption of teeth, Delayed eruption of teeth, Tracheomalacia, Mandibular prognathia, Exa...	ORPHA:261494
D-Bifunctional Protein Deficiency	Osteopenia, Retrognathia, Large fontanelles, Macrocephaly, Hammertoe, Delayed cranial suture clos...	OMIM:261515
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Macrocephaly, Wide anterior fontanel, Scoliosis, High palate, Congenital hip dislocation, Contrac...	ORPHA:457279
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, 10 pairs of ribs, Cleft soft palate, 11 pairs of ribs, Short hard...	OMIM:117650
Congenital Heart Defects And Skeletal Malformations Syndrome	Thin vermilion border, Clinodactyly of the 5th finger, Sandal gap, Dental crowding, Scoliosis, Hi...	OMIM:617602
Baller-Gerold Syndrome	Limited elbow movement, Carpal bone aplasia, Oligodactyly, Bifid uvula, Absent thumb, Short humer...	OMIM:218600
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Dislocated radial head, Microcephaly, Long philtrum, Hypoplasia of t...	OMIM:122470
Lowe Oculocerebrorenal Syndrome	Rickets, Wrist swelling, Genu valgum, Platyspondyly, Pathologic fracture, Osteomalacia, Finger sw...	OMIM:309000
Schinzel-Giedion Syndrome	Kyphoscoliosis, Retrognathia, Stiff elbow, Broad alveolar ridges, Tibial bowing, Wide mouth, Shor...	ORPHA:798
Achondrogenesis, Type Ia	Hypoplasia of the radius, Hypoplastic sacrum, Unossified vertebral bodies, Severe limb shortening...	OMIM:200600
Phocomelia, Schinzel Type	Hypoplasia of the radius, High, narrow palate, Fibular aplasia, Abnormal tibia morphology, Aplasi...	ORPHA:2879
Donnai-Barrow Syndrome	Wide anterior fontanel, Macrocephaly, Malar flattening, Short sternum	OMIM:222448
Short-Rib Thoracic Dysplasia 12	Short finger, Macrocephaly, Short long bone, Short ribs, Median cleft palate, Hypoplastic scapula...	OMIM:269860
Geleophysic Dysplasia 1	Osteopenia, Cone-shaped epiphysis, Platyspondyly, Short long bone, Wrist flexion contracture, Sho...	OMIM:231050
Dihydropyrimidine Dehydrogenase Deficiency	Retrognathia, Macrocephaly, Delayed eruption of teeth, High palate, Micromelia, Microcephaly, Epi...	ORPHA:1675
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Carious teeth, Clinodactyly, Down-sloping shoulders, Microretrognathia, Dental malocclusion, Tape...	OMIM:615560
Ogden Syndrome	High, narrow palate, Everted upper lip vermilion, Delayed cranial suture closure, Scoliosis, Broa...	ORPHA:276432
Acquired Aneurysmal Subarachnoid Hemorrhage	Memory impairment, Cognitive impairment, Hypothyroidism, Hyperglycemia, Progressive neurologic de...	ORPHA:90065
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Joint stiffness, Microcephal...	OMIM:139210
Gitelman Syndrome	Delayed puberty, Maternal diabetes, Graves disease, Hashimoto thyroiditis, Primary hyperaldostero...	ORPHA:358
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Dental malocclusion, Osteopetrosis, Diaphyseal sclerosis	OMIM:259730
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Microdontia, Micrognathia	OMIM:610706
Beare-Stevenson Cutis Gyrata Syndrome	Narrow palate, Limited elbow extension, Gingival overgrowth, High palate, Narrow mouth, Bifid uvu...	OMIM:123790
Mpdu1-Cdg	Thin vermilion border, Wide anterior fontanel, Prominent frontal sinuses	ORPHA:79323
Gorlin Syndrome	Orofacial cleft, Macrocephaly, Abnormal vertebral morphology, Odontogenic keratocysts of the jaw,...	ORPHA:377
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Wide anterior fontanel	OMIM:619064
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Endocrine-Cerebroosteodysplasia	Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Tibial bowing, Median cleft p...	OMIM:612651
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Wide anterior fontanel	OMIM:617241
Cherubism	Narrow palate, Oligodontia, Jaw swelling, Dental malocclusion, Multiple impacted teeth, Alveolar ...	OMIM:118400
Abdominal Obesity-Metabolic Syndrome 3	Abdominal obesity, Hyperglycemia, Type II diabetes mellitus, Truncal obesity	OMIM:615812
Isolated Permanent Neonatal Diabetes Mellitus	Lower-limb joint contracture, Glycosuria, Reduced pancreatic beta cells, Failure to thrive, Ataxi...	ORPHA:99885
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Cleft hard palate, Broad distal phalanx of finger, Clinodactyly of the 5th finger, Delayed erupti...	OMIM:300990
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Scoliosis, Femoral bowing, Shor...	OMIM:613091
Mend Syndrome	Sacral dimple, Wide anterior fontanel, 2-3 toe syndactyly, High palate, Kyphosis, Asymmetry of th...	ORPHA:401973
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Widely spaced teeth, Delayed eruption of teeth, Gingival overgrowth, Scoliosis, Microdontia, Micr...	OMIM:301072
Shwachman-Diamond Syndrome	Osteopenia, Vertebral compression fracture, Delayed eruption of teeth, Oral ulcer, Abnormal finge...	ORPHA:811
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Wide anterior fontanel	ORPHA:95715
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Delayed cranial suture closure, Scoliosis, High palate, Flexion contracture, Thick vermilion bord...	OMIM:619383
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Pachyonychia Congenita	Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia	ORPHA:2309
Chand Syndrome	Agenesis of maxillary incisor, Short fifth metatarsal, Abnormal oral frenulum morphology, Commiss...	ORPHA:1401
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Oligodontia, Abnormality of the dentition, Microdontia, Microcephaly	ORPHA:2315
Menkes Disease	Abnormal metaphysis morphology, Abnormal palate morphology, Tarsal synostosis, Chondrocalcinosis,...	ORPHA:565
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Broad alveolar ridges, Abnormal finger morpho...	ORPHA:79500
Corneodermatoosseous Syndrome	Abnormal metacarpal morphology, Abnormal dental enamel morphology, Abnormal finger morphology, Gi...	ORPHA:3194
Dyskeratosis Congenita, Autosomal Recessive 6	Microcephaly, Carious teeth, Premature loss of teeth, Oral leukoplakia	OMIM:616353
Lacrimoauriculodentodigital Syndrome 3	Widely spaced teeth, Enamel hypoplasia, Carious teeth, Partial duplication of thumb phalanx, Shor...	OMIM:620193
Say-Barber-Miller Syndrome	Thin vermilion border, Patellar hypoplasia, Tooth malposition, Ankle clonus, Scoliosis, Elbow fle...	ORPHA:3132
Pallister-Hall Syndrome	Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Hip dislo...	OMIM:146510
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Long philtrum, Thin vermilion border, Clinodactyly of the 2nd finger, Conical incisor...	ORPHA:73223
Transaldolase Deficiency	Thin vermilion border, Short philtrum, Wide anterior fontanel, Wide mouth, Short neck, Deep philtrum	OMIM:606003
Isolated Exencephaly	Hypoplasia of the frontal bone, Abnormal facial skeleton morphology	ORPHA:563612
Aspartylglucosaminuria	Beaking of vertebral bodies, Abnormal vertebral morphology, Abnormal cortical bone morphology, An...	ORPHA:93
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Macrocephaly, Rhizomelia, Wide anterior fontanel, Femoral bowing, Tibial bowing, Kyphosis, Mesome...	OMIM:616482
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Donnai-Barrow Syndrome	Wide anterior fontanel, Macrocephaly	ORPHA:2143
Amelogenesis Imperfecta, Type Ig	Amelogenesis imperfecta, Gingival fibromatosis, Dagger-shaped pulp calcifications, Gingival overg...	OMIM:204690
Craniofacial Microsomia 1	Transverse facial cleft, Genu valgum, Branchial anomaly, Maxillozygomatic hypoplasia, Scoliosis, ...	OMIM:164210
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Orofacial cleft, Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, Short long bone...	OMIM:615630
Barber-Say Syndrome	Thin vermilion border, Widely spaced teeth, Clinodactyly of the 5th finger, Delayed eruption of t...	OMIM:209885
Pancreatic And Cerebellar Agenesis	Failure to thrive, Reduced subcutaneous adipose tissue, Hyperglycemia, Flexion contracture, Hypog...	OMIM:609069
Opitz Gbbb Syndrome	Solitary median maxillary central incisor, Wide anterior fontanel, High palate, Microcephaly, Cle...	OMIM:300000
Trichothiodystrophy 3, Photosensitive	Eclabion, Carious teeth, Natal tooth	OMIM:616395
Hunter-Macdonald Syndrome	Large fontanelles, Clinodactyly of the 5th finger, Cubitus valgus, Short philtrum, 2-3 toe syndac...	OMIM:611962
Opitz Gbbb Syndrome	Large fontanelles, Tracheomalacia, Hypodontia, Vertebral segmentation defect, High palate, Ankylo...	ORPHA:2745
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Sifrim-Hitz-Weiss Syndrome	Macrocephaly, Fused cervical vertebrae, Short clavicles, Flat acetabular roof, Bifid uvula, Short...	OMIM:617159
Saethre-Chotzen Syndrome	Narrow palate, Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Absent first metatars...	OMIM:101400
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Cleft palate, Short philtrum	OMIM:617337
Chilton-Okur-Chung Neurodevelopmental Syndrome	Microcephaly, Wide mouth, Joint hypermobility, Cone-shaped epiphysis, Agenesis of incisor, Short ...	OMIM:619841
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Wide anterior fontanel, Scoliosis, Micrognathia, Downturned corners of mouth, Smooth philtrum, Lo...	OMIM:618548
Bardet-Biedl Syndrome	Childhood-onset truncal obesity, Impaired fasting glucose, Abnormality of the endocrine system, H...	ORPHA:110
Hennekam-Beemer Syndrome	Thick lower lip vermilion, Clinodactyly of the 5th finger, Delayed cranial suture closure, Scolio...	ORPHA:2135
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Microcephaly, Long phi...	OMIM:608670
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Short metacarpal, Arachno...	ORPHA:95699
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Genu valgum, Osteolytic defects of the phalanges of the hand, Short philtrum, Sandal ...	OMIM:619127
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Thick vermilion border, Macrodontia of permanent maxillary central incisor, Open mouth	OMIM:620114
Autosomal Recessive Spastic Paraplegia Type 77	Kyphoscoliosis, Retrognathia, Macrodontia of permanent maxillary central incisor, Hip dysplasia	ORPHA:466722
Progressive Supranuclear Palsy	Abnormal synaptic transmission, Memory impairment, Dementia, Cognitive impairment	ORPHA:683
Schinzel-Giedion Midface Retraction Syndrome	Short 1st metacarpal, Wide distal femoral metaphysis, Wormian bones, Tibial bowing, Postaxial han...	OMIM:269150
Pitt-Hopkins Syndrome	Abnormal palate morphology, Short metatarsal, Short philtrum, Tooth malposition, Scoliosis, Micro...	ORPHA:2896
Curry-Jones Syndrome	Unicoronal synostosis, Bicoronal synostosis, Triphalangeal hallux, Wormian bones, Broad thumb, Du...	OMIM:601707
Trisomy 10P	Thin vermilion border, Retrognathia, Orofacial cleft, Thumb contracture, Hemivertebrae, High pala...	ORPHA:171929
Rubinstein-Taybi Syndrome 1	Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Dental crowding, Hypoplasti...	OMIM:180849
Solitary Fibrous Tumor	Hypoglycemia, Hypoinsulinemia, Weight loss, Recurrent hypoglycemia	ORPHA:2126
Pachyonychia Congenita 2	Natal tooth, Angular cheilitis, Oral leukoplakia	OMIM:167210
Cartilage-Hair Hypoplasia	Limited elbow extension, Metaphyseal cupping, Scoliosis, Femoral bowing, Abnormal pelvic girdle b...	OMIM:250250
Fanconi-Bickel Syndrome	Fasting hypoglycemia, Impaired glucose tolerance, Glycosuria, Failure to thrive, Diabetes mellitu...	ORPHA:2088
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Wide anterior fontanel, Thoracolumbar scoliosis, Long philtrum, Sagittal craniosynost...	OMIM:610199
Toriello-Carey Syndrome	Abnormal palate morphology, Wide anterior fontanel, High palate, Microcephaly, Micrognathia, Clef...	ORPHA:3338
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Abnormality of primary teeth, Incisor macrodontia, High palate, Microcephaly, Tented upper lip ve...	ORPHA:438216
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Thick lower lip vermilion, Macrocephaly, Clinodactyly of the 5th finger, Del...	ORPHA:369950
Helsmoortel-Van Der Aa Syndrome	Sandal gap, Prominent fingertip pads, Hyperlordosis, Everted lower lip vermilion, Microdontia, Sh...	OMIM:615873
Ayme-Gripp Syndrome	Mandibular prognathia, Delayed cranial suture closure, Narrow mouth, Abnormality of the dentition...	OMIM:601088
Focal Dermal Hypoplasia	Midclavicular aplasia, Short ribs, Short metacarpal, Microcephaly, Split foot, Joint hypermobilit...	OMIM:305600
Hutchinson-Gilford Progeria Syndrome	Retrognathia, Reduced bone mineral density, Dental crowding, Relative macrocephaly, Limitation of...	ORPHA:740
Kilquist Syndrome	Mandibular prognathia, 2-3 toe syndactyly, Hypoplasia of teeth, Wide mouth, Coxa valga	OMIM:619080
Rett Syndrome	Progressive language deterioration, Failure to thrive, Increased serum leptin, Skeletal muscle at...	ORPHA:778
Cockayne Syndrome Type 1	Hypoplasia of the primary teeth, Foot joint contracture, Mandibular prognathia, Scoliosis, Abnorm...	ORPHA:90321
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Delayed cranial suture closure, Microdontia, Microcephaly, Micrognathia, Thick ...	OMIM:620005
Ramon Syndrome	Narrow palate, Gingival fibromatosis, Delayed eruption of teeth, Scoliosis, Kyphosis, Juvenile rh...	OMIM:266270
Dubowitz Syndrome	Sacral dimple, Clinodactyly of the 5th finger, Delayed eruption of teeth, High palate, Microcepha...	OMIM:223370
Bile Acid Synthesis Defect, Congenital, 1	Rickets	OMIM:607765
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Hypophosphatemic rickets	OMIM:612089
Cockayne Syndrome B	Square pelvis bone, Hypoplastic iliac wing, Mandibular prognathia, Limitation of joint mobility, ...	OMIM:133540
Enamel-Renal Syndrome	Amelogenesis imperfecta, Delayed eruption of teeth, Yellow-brown discoloration of the teeth, Abno...	ORPHA:1031
Peroxisome Biogenesis Disorder 5A (Zellweger)	Large fontanelles, Cubitus valgus, Epiphyseal stippling, Wide anterior fontanel, High palate, Cam...	OMIM:614866
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Thin vermilion border, Sacral dimple, Clinodactyly of the 5th finger, Short philtrum,...	ORPHA:363611
Aymé-Gripp Syndrome	Rocker bottom foot, Large fontanelles, Clinodactyly of the 5th finger, Oligodontia, Delayed crani...	ORPHA:1272
Cystinosis	Rickets	ORPHA:213
Cockayne Syndrome A	Square pelvis bone, Hypoplastic iliac wing, Mandibular prognathia, Limitation of joint mobility, ...	OMIM:216400
Coffin-Lowry Syndrome	Everted lower lip vermilion, Short metacarpal, Kyphosis, Microcephaly, Delayed closure of the ant...	OMIM:303600
Alg12-Cdg	Overlapping fingers, Abnormal bone ossification, Clinodactyly of the 5th finger, Proximal placeme...	ORPHA:79324
Lead Poisoning	Cranial hyperostosis, Delayed eruption of teeth	ORPHA:330015
Adnp Syndrome	Polydactyly, Advanced eruption of teeth, Thick lower lip vermilion, Sandal gap, Abnormal finger m...	ORPHA:404448
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Gingival overgrowth, Short metacarpal, Rhizomelic arm shortening, Shor...	ORPHA:508542
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Kyphoscoliosis, Platyspondyly, Pathologic fracture, Vertebral compression fracture, S...	OMIM:259770
Frontofacionasal Dysplasia	Orofacial cleft, Hypoplasia of the frontal bone, Cleft upper lip, Bifid uvula, Malar flattening	OMIM:229400
Floating-Harbor Syndrome	Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Micro...	OMIM:136140
Beta-Ketothiolase Deficiency	Hypoglycemia, Hyperglycemia, Ataxia, Weight loss	ORPHA:134
Turner Syndrome Due To Structural X Chromosome Anomalies	Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid...	ORPHA:99413
Mosaic Monosomy X	Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid...	ORPHA:99228
Monosomy X	Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid...	ORPHA:99226
Turner Syndrome	Delayed puberty, Premature ovarian insufficiency, Hyperinsulinemia, Secondary amenorrhea, Thyroid...	ORPHA:881
Fontaine Progeroid Syndrome	Retrognathia, Everted lower lip vermilion, Microdontia, Microcephaly, Syndactyly, Short distal ph...	OMIM:612289
Cole Disease	Hyperglycemia	OMIM:615522
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Coffin-Siris Syndrome	Thick lower lip vermilion, Delayed eruption of teeth, Scoliosis, Microcephaly, Clinodactyly, Wide...	ORPHA:1465
Bloom Syndrome	Clinodactyly of the 5th finger, Microcephaly, Hand polydactyly, Malar flattening, Syndactyly, Age...	OMIM:210900
Congenital Bile Acid Synthesis Defect Type 2	Rickets	ORPHA:79303
Wiedemann-Rautenstrauch Syndrome	Hypoplastic facial bones, Short humerus, Long philtrum, Long toe, Clinodactyly, Genu varum, Delay...	OMIM:264090
Incontinentia Pigmenti	Kyphoscoliosis, Conical tooth, Delayed eruption of teeth, Oligodontia, Hemivertebrae, Microcephal...	OMIM:308300
Cornelia De Lange Syndrome 6	Clinodactyly of the 5th finger, Scoliosis, Microcephaly, Arachnodactyly, Short palm, Down-sloping...	OMIM:620568
Necrotizing Enterocolitis	Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis	ORPHA:391673
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Widely spaced teeth, Bowed humerus, Short lingual frenulum, Short long bone, Microdontia, Short h...	OMIM:619479
Coffin-Siris Syndrome 1	Retrognathia, Sandal gap, Dislocated radial head, Prominent fingertip pads, Microdontia, Kyphosis...	OMIM:135900
Generalized Glucocorticoid Resistance Syndrome	Abnormal circulating testosterone concentration, Increased urinary cortisol level, Oligozoospermi...	ORPHA:786
Yunis-Varon Syndrome	Absent sternal ossification, Broad alveolar ridges, Flat acetabular roof, Decreased skull ossific...	OMIM:216340
Osteopetrosis With Renal Tubular Acidosis	Retrognathia, Osteopetrosis, Thick lower lip vermilion, Tooth malposition, High palate, Abnormali...	ORPHA:2785
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Polydactyly, Scoliosis, Short long bone, Brachydactyly	OMIM:613819
Restrictive Dermopathy	Osteopenia, Temporomandibular joint ankylosis, Narrow mouth, Decreased skull ossification, Thorac...	ORPHA:1662
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Widely spaced teeth, Thick lower lip vermilion, Clinodactyly of the 5th finger, Short philtrum, D...	OMIM:280000
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia, Chondrocalcinosis	OMIM:600740
Hypomagnesemia 3, Renal	Amelogenesis imperfecta, Rickets, Genu valgum, Short metacarpal, Enamel hypoplasia, Bowing of the...	OMIM:248250
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Osteoporosis	ORPHA:309031
Floating-Harbor Syndrome	Kyphoscoliosis, Dislocated radial head, Short metacarpal, Microdontia, Wide mouth, Clinodactyly, ...	ORPHA:2044
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Periodontitis, Oral ulcer, Gingivitis, Osteoporosis, Carious teeth, Gout, Delayed eru...	ORPHA:79259
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Oligodontia, Scoliosis, Everted lower lip vermilion, Kyphosis, Anodontia, Tapered finger	ORPHA:276630
Vacterl With Hydrocephalus	Retrognathia, Hypoplasia of the radius, Abnormal form of the vertebral bodies, Hemivertebrae, Mic...	ORPHA:3412
Cornelia De Lange Syndrome	Proximal placement of thumb, Oligodactyly, Joint stiffness, Microcephaly, Long philtrum, Hip disl...	ORPHA:199
Keppen-Lubinsky Syndrome	Generalized lipodystrophy, Decreased serum leptin, Lack of facial subcutaneous fat, Failure to th...	OMIM:614098
Barber-Say Syndrome	Wide mouth, Delayed eruption of teeth	ORPHA:1231
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Fibular hypoplasia, Hip subluxation, Abnormal vertebral morphology, Cervical C2/C3 vertebral fusi...	ORPHA:444077
Meckel Syndrome, Type 1	Foot polydactyly, Postaxial polydactyly, Radial deviation of finger, Short neck, Postaxial hand p...	OMIM:249000
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Retrognathia, Downturned corners of mouth, Short long bone, Short philtrum	OMIM:301110
Ogden Syndrome	Everted upper lip vermilion, Sandal gap, Microcephaly, Long philtrum, Narrow palate, Short philtr...	OMIM:300855
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Delayed closure of the anterior fontanelle, Abnormality of the me...	OMIM:127000
Genitopatellar Syndrome	Knee flexion contracture, Delayed eruption of teeth, Scoliosis, Inferior pubic ramus hypoplasia, ...	OMIM:606170
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology	OMIM:612301
Mitchell-Riley Syndrome	Diabetes mellitus, Hyperglycemia	OMIM:615710
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Kyphoscoliosis, Abnormality of the sphenoid sinus, Macrocephaly, Abnormal tibia morphology, Genu ...	ORPHA:363700
Isolated Thyroid-Stimulating Hormone Deficiency	Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, Large posterior...	ORPHA:90674
Charge Syndrome	Polydactyly, Abnormal tibia morphology, Clinodactyly of the 5th finger, Abnormal soft palate morp...	ORPHA:138
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Macrocephaly, Femoral bowing, Short long bone, Short ribs, Acetabular spurs...	OMIM:615503
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Diastasis recti, Flexion contracture, Arthrogryposis multiplex congenita, Postpr...	ORPHA:440713
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Adducted thumb, Large fontanelles, Joint dislocation, Delayed cranial suture closure, Scoliosis, ...	OMIM:601776
Kindler Epidermolysis Bullosa	Short 4th metacarpal, Cheilitis, Periodontitis, Finger syndactyly, Abnormal dental enamel morphol...	ORPHA:2908
Lacrimoauriculodentodigital Syndrome	Microdontia, Bifid uvula, Absent thumb, Syndactyly, Clinodactyly, Hypoplasia of the radius, Scoli...	ORPHA:2363
Developmental And Epileptic Encephalopathy 111	Wide anterior fontanel, Macrocephaly	OMIM:620504
Fanconi-Bickel Syndrome	Rickets, Osteomalacia	OMIM:227810
Thyrotoxic Periodic Paralysis	Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goiter, Thyrotoxicos...	ORPHA:79102
Multiple Acyl-Coa Dehydrogenase Deficiency	Wide anterior fontanel, Macrocephaly, Hyperlordosis	ORPHA:26791
Specc1L-Related Hypertelorism Syndrome	Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Clinodactyly of the 5th finge...	ORPHA:1519
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Reduced bone mineral density, Scoliosis, High palate, Microcephaly, Joint hy...	OMIM:613658
Pallister-Killian Syndrome	Kyphoscoliosis, Relative macrocephaly, Everted lower lip vermilion, Bifid uvula, Wide mouth, Long...	OMIM:601803
Lacrimoauriculodentodigital Syndrome 1	Microdontia, Bilateral triphalangeal thumbs, Absent radius, Delayed eruption of primary teeth, Hy...	OMIM:149730
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Delayed cranial suture closure, Macroglossia, Malar flattening	OMIM:613038
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Multiple joint dislocation, Dental crowding, Hyperlordosis, Internally rotated shoulders, Agenesi...	OMIM:619503
Dend Syndrome	Hyperglycemia	ORPHA:79134
Odontoonychodermal Dysplasia	Conical incisor, Smooth tongue, Abnormality of primary teeth, Hypodontia, Agenesis of permanent t...	OMIM:257980
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Large fontanelles, Sacral dimple, Finger syndactyly, Delayed cranial suture closure, Broad thumb,...	ORPHA:2211
Multiple Acyl-Coa Dehydrogenase Deficiency	Wide anterior fontanel, Macrocephaly	OMIM:231680
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Tooth malposition, Bifid uvula, Failure of eruption of permanent teeth, Cleft palate, Submucous c...	ORPHA:2250
Costello Syndrome	Limited elbow movement, Thick lower lip vermilion, Macrocephaly, Tracheomalacia, Wide anterior fo...	OMIM:218040
Coffin-Siris Syndrome 12	Hip subluxation, Macrocephaly, Ridged cranial sutures, Delayed cranial suture closure, Scoliosis,...	OMIM:619325
Distal Renal Tubular Acidosis	Rickets, Osteomalacia, Reduced bone mineral density, Increased susceptibility to fractures	ORPHA:18
Pallister-Hall Syndrome	Mesoaxial polydactyly, Oligodactyly, Broad thumb, Bifid uvula, Polydactyly affecting the 3rd fing...	ORPHA:672
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Scoliosis, High palate, Persistence of primary teeth, Joint hypermobility, Craniosyno...	OMIM:147060
Cockayne Syndrome	Progressive microcephaly, Primary microcephaly, Scoliosis, Kyphosis, Congenital contracture, Abno...	ORPHA:191
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short ...	OMIM:263520
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Short finger, Delayed cranial suture closure, Delayed proximal femoral epiphyseal ossification, H...	ORPHA:226307
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	2-3 toe syndactyly, Delayed cranial suture closure, High palate, Scoliosis, Microcephaly, Smooth ...	OMIM:618653
Microphthalmia, Syndromic 1	Kyphoscoliosis, Orofacial cleft, High, narrow palate, Radial deviation of finger, Tooth malpositi...	OMIM:309800
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Ankyloglossia, Carious teeth, Micrognathia, Bifid uvula, Natal tooth, Downturned ...	OMIM:620186
Tooth Agenesis, Selective, 4	Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Agenesis of permanent teeth,...	OMIM:150400
Intellectual Developmental Disorder, Autosomal Dominant 54	Microcephaly, Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth	OMIM:617799
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth	OMIM:300952
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Inguinal hernia, Aplasia of the left hemidiaphragm, Glycosuria, ...	OMIM:600001
Pyruvate Carboxylase Deficiency	Failure to thrive, Hypoglycemia, Hyperglycemia, Ataxia	ORPHA:3008
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Failure to thrive, Rhabdomyolysis, Hyperglycemia, Ataxia, Recurrent hyp...	OMIM:124000
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Cleft lip, Notched primary central incisor	OMIM:620519
Chromosome 1P36 Deletion Syndrome, Distal	Orofacial cleft, Clinodactyly of the 5th finger, 11 pairs of ribs, Delayed closure of the anterio...	OMIM:607872
Familial Hypocalciuric Hypercalcemia	Osteomalacia, Chondrocalcinosis	ORPHA:405
Alström Syndrome	Precocious puberty in females, Primary hypothyroidism, Cognitive impairment, Ataxia, Decreased ci...	ORPHA:64
Hypermobile Ehlers-Danlos Syndrome	High, narrow palate, Abnormality of the wrist, Joint dislocation, Dental crowding, Gingival overg...	ORPHA:285
Autosomal Dominant Cutis Laxa	Osteopenia, Genu recurvatum, Delayed cranial suture closure, Wormian bones, Scoliosis, Abnormal c...	ORPHA:90348
Scalp-Ear-Nipple Syndrome	Abnormality of the dentition, Delayed eruption of teeth	ORPHA:2036
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Dental crowding, Arachnodactyly, Bifid uvula, Syndactyly, Adducted thumb, Long toe, Primary micro...	ORPHA:261537
Pmm2-Cdg	Elevated circulating thyroid-stimulating hormone concentration, Abnormal subcutaneous fat tissue ...	ORPHA:79318
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Hyperglycemia	OMIM:620423
Sotos Syndrome	Increased head circumference, Ankle flexion contracture, Macrocephaly, Abnormal vertebral morphol...	ORPHA:821
Wilson Disease	Osteomalacia, Osteoporosis, Osteoarthritis, Joint hypermobility, Chondrocalcinosis	OMIM:277900
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes...	ORPHA:293987
Aplasia Of Lacrimal And Salivary Glands	Carious teeth	OMIM:180920
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Truncal ataxia, Failure to thrive, Hyperglycemia, Ataxia, Left ventricular hyper...	OMIM:220111
Scorpion Envenomation	Glycosuria, Rhabdomyolysis, Priapism, Hyperglycemia, Ataxia, Paresthesia	ORPHA:466677
Liver Disease, Severe Congenital	Inguinal hernia, Short attention span, Abnormal circulating thyroid hormone concentration, Failur...	OMIM:619991
Cystinosis, Nephropathic	Rickets, Hypophosphatemic rickets, Genu valgum, Metaphyseal widening	OMIM:219800
Primary Fanconi Renotubular Syndrome	Osteomalacia, Hypophosphatemic rickets, Increased susceptibility to fractures	ORPHA:3337
1P36 Deletion Syndrome	Clinodactyly of the 5th finger, 11 pairs of ribs, Delayed cranial suture closure, Scoliosis, Narr...	ORPHA:1606
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Dental crowding, Abnormal jaw morphology, Arachnodactyly, Bifid uvula, Syndactyly, Adducted thumb...	ORPHA:261552
Mowat-Wilson Syndrome	Dental crowding, Everted lower lip vermilion, Microcephaly, Bifid uvula, Syndactyly, Adducted thu...	ORPHA:2152
Beckwith-Wiedemann Syndrome	Large fontanelles, Otosclerosis, Mandibular prognathia, Wide anterior fontanel, Prominent metopic...	ORPHA:116
Immunodeficiency 82 With Systemic Inflammation	Oral ulcer, Arthritis, Joint swelling, Osteomalacia, Osteomyelitis	OMIM:619381
Currarino Syndrome	Aplasia/Hypoplasia of the sacrum, Sacrococcygeal teratoma	ORPHA:1552
Anemia, Congenital Dyserythropoietic, Type Iv	Wide anterior fontanel	OMIM:613673
Generalized Arterial Calcification Of Infancy	Stippled calcification of the elbow, Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal...	ORPHA:51608
Medulloblastoma	Progressive macrocephaly, Back pain, Delayed cranial suture closure	ORPHA:616
Denys-Drash Syndrome	Wide anterior fontanel	OMIM:194080
Intellectual Developmental Disorder, X-Linked 19	Kyphoscoliosis, Thick lower lip vermilion, Dental crowding, Scoliosis, Everted lower lip vermilion	OMIM:300844
Mowat-Wilson Syndrome	Widely spaced teeth, Tooth malposition, Delayed eruption of teeth, Microcephaly, Cleft palate, Su...	OMIM:235730
Leukocyte Adhesion Deficiency	Hyperinsulinemic hypoglycemia, Vaginitis	ORPHA:2968

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 Rps6ka3

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 Rps6ka3.

No publications found that use IMPC mice or data for Rps6ka3.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Rps6ka3^em1(IMPC)Bay	Exon Deletion	Mice
Rps6ka3^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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