Gene: Tnfsf11 MGI:1100089

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

tumor necrosis factor (ligand) superfamily, member 11

Synonyms:

Trance, RANKL, Ly109l, OPGL, osteoclast differentiation factor, ODF

Order Alleles

IMPC Data Collections

No Body Weight Data
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.

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 Tnfsf11 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 Tnfsf11 (2 diseases)
Human diseases predicted to be associated with Tnfsf11 (2231 diseases)

The table below shows human diseases associated to Tnfsf11 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Osteopetrosis, Autosomal Recessive 2		Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Persistence of primary teeth, Diaph...	OMIM:259710
Autosomal Recessive Malignant Osteopetrosis		Recurrent fractures, Macrocephaly, Hepatomegaly, Hypophosphatemia, Pulmonary artery stenosis, Spl...	ORPHA:667

The table below shows human diseases predicted to be associated to Tnfsf11 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cystic Angiomatosis Of Bone, Diffuse	Cystic angiomatosis of bone	OMIM:123880
Florid Cemento-Osseous Dysplasia	Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho...	ORPHA:83451
Osteopetrosis, Autosomal Dominant 1	Mandibular pain, Osteopetrosis, Torus palatinus, Generalized osteosclerosis, Calvarial osteoscler...	OMIM:607634
Regional Odontodysplasia	Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D...	ORPHA:83450
Dentin Dysplasia	Abnormality of dental morphology, Increased bone mineral density, Abnormal dental enamel morphology	ORPHA:1653
Immunodeficiency 32A	Lymphadenopathy	OMIM:614893
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Coxa vara, Failure to thrive, Macrocephaly, Hepatomegaly...	OMIM:259700
Amelogenesis Imperfecta	Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un...	ORPHA:88661
Dentin Dysplasia With Sclerotic Bones	Abnormality of the dentition, Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth	OMIM:125440
Buschke-Ollendorff Syndrome	Joint stiffness, Osteopoikilosis, Flexion contracture	OMIM:166700
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os...	OMIM:166600
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Osteopetrosis And Infantile Neuroaxonal Dystrophy	Osteopetrosis	OMIM:600329
Trichodentoosseous Syndrome	Widely spaced teeth, Taurodontia, Increased bone mineral density, Microdontia	OMIM:190320
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Osteopetrosis, Autosomal Recessive 2	Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Persistence of primary teeth, Diaph...	OMIM:259710
Eiken Syndrome	Short philtrum, Multiple unerupted teeth, Thick lower lip vermilion, Eruption failure, Long hallu...	OMIM:600002
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Macrocephaly, Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia, Thrombocytopenia	OMIM:615085
Osteoglosphonic Dysplasia	Abnormal bone ossification, Tooth agenesis, Severe short stature, Craniosynostosis, Micrognathia,...	ORPHA:2645
Brachyolmia Type 1, Hobaek Type	Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop...	OMIM:271530
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormality of the lymph nodes	OMIM:136580
Pyle Disease	Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios...	OMIM:265900
Osteopetrosis, Autosomal Recessive 4	Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytos...	OMIM:611490
Dysplastic Cortical Hyperostosis	Hepatomegaly, Increased bone mineral density, Splenomegaly, Microcephaly, Abnormality of limb bon...	ORPHA:2204
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia	OMIM:200900
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Mueller-Weiss Syndrome	Talipes calcaneovarus, Edema of the dorsum of feet, Joint stiffness, Sclerosis of foot bone, Limi...	ORPHA:566943
Albers-Schönberg Osteopetrosis	Short distal phalanx of finger, Abnormal leukocyte morphology, Mandibular osteomyelitis, Macrocep...	ORPHA:53
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp...	ORPHA:3416
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Hypocalcemia, Hepatomegaly, Reduced bone mineral density, Splenomegaly, Choles...	ORPHA:172
Ghosal Hematodiaphyseal Dysplasia	Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Abnormal form of the ve...	ORPHA:1802
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Osteochondrosis Of The Metatarsal Bone	Abnormality of the third metatarsal bone, Joint stiffness, Thickened cortex of bones, Sclerosis o...	ORPHA:564003
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ...	OMIM:612840
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Metaphyseal Chondrodysplasia, Spahr Type	Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Scoliosis, Gen...	ORPHA:2501
Eiken Syndrome	Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir...	ORPHA:79106
Cleidocranial Dysplasia	Macrocephaly, Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruptio...	ORPHA:1452
Melorheostosis With Osteopoikilosis	Abnormal cortical bone morphology, Osteopoikilosis	ORPHA:1879
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Trichorhinophalangeal Syndrome, Type Iii	Short metatarsal, Supernumerary tooth, Cone-shaped epiphyses of the middle phalanges of the hand,...	OMIM:190351
Osteomesopyknosis	Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler...	ORPHA:2777
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Hip subluxation, Pancytopenia, Cranial hyperostosis, Increased bone mineral density...	OMIM:259720
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal s...	OMIM:144750
Osteopathia Striata-Cranial Sclerosis Syndrome	Macrocephaly, Large iliac wing, High, narrow palate, Cleft palate, Increased bone mineral density...	ORPHA:2780
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L...	OMIM:615285
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Advanced...	OMIM:618363
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Macrocephaly, Increased bone mineral density, Craniosynostosis, Broad jaw, Facial palsy	ORPHA:178377
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Kyphosis, Coxa vara, Abnormal bone ossification...	ORPHA:2114
Failure Of Tooth Eruption, Primary	Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth	OMIM:125350
Endosteal Hyperostosis, Worth Type	Torus palatinus, Clavicular sclerosis, Generalized osteosclerosis, Mandibular prognathia, Abnorma...	ORPHA:2790
Ribbing Disease	Diaphyseal sclerosis	OMIM:601477
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Osteopetrosis, Micrognathia	OMIM:617306
Craniometaphyseal Dysplasia	Osteopetrosis, Craniofacial hyperostosis	ORPHA:1522
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Macrocephaly, Hepatomegaly, Hypophosphatemia, Pulmonary artery stenosis, Spl...	ORPHA:667
Distal Osteosclerosis	Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis	OMIM:126250
Spondyloepiphyseal Dysplasia Tarda	Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Arthralgia ...	ORPHA:93284
Desmosterolosis	Failure to thrive, Narrow mouth, Macrocephaly, Anomalous pulmonary venous return, Increased bone ...	ORPHA:35107
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum	Eruption failure, Maxillozygomatic hypoplasia, Genu valgum, Alveolar process hypoplasia, Multiple...	OMIM:273050
Weismann-Netter Syndrome	Kyphosis, Severe short stature, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bow...	OMIM:112350
Intermediate Osteopetrosis	Sandwich appearance of vertebral bodies, Dental malocclusion, Cortical sclerosis, Osteomyelitis, ...	ORPHA:210110
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Short stature, Osteopetrosis, Splenomegaly, Growth delay, Intrauterine growth retar...	OMIM:618541
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Malar flattening, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd meta...	OMIM:118651
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Short stature, Short philtrum, Platyspondyly, Cone-shaped epiphysis, D...	ORPHA:71267
Otopalatodigital Syndrome, Type I	Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior fon...	OMIM:311300
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Osteopetrosis, Abnormal trabecular bone morphology, Increased head ci...	OMIM:612301
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys...	OMIM:607778
Diastrophic Dysplasia	Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Disproportionate short-limb short stature,...	OMIM:222600
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hypodontia, Short stature, Short 1st metacarpal, Delayed eruption of teeth, Hip osteoarthritis, S...	ORPHA:63442
Isolated Osteopoikilosis	Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b...	ORPHA:166119
Osteopetrosis, Autosomal Recessive 3	Dental malocclusion, Diaphyseal sclerosis, Short stature, Extramedullary hematopoiesis, Osteopetr...	OMIM:259730
Spondylometaphyseal Dysplasia, East African Type	Coxa vara, Disproportionate short-limb short stature, Metaphyseal spurs, Metaphyseal widening, Br...	OMIM:611702
Parastremmatic Dwarfism	Kyphosis, Severe short stature, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing o...	OMIM:168400
Gigantiform Cementoma, Familial	Multiple impacted teeth, Cementoma, Tooth malposition	OMIM:137575
Short Stature, Dauber-Argente Type	Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Short statu...	OMIM:619489
Lowry-Maclean Syndrome	Cleft palate, Craniosynostosis, Microcephaly, Diaphragmatic eventration, Delayed eruption of teeth	OMIM:600252
Acrootoocular Syndrome	Cutaneous syndactyly, Delayed eruption of teeth, Sandal gap, High, narrow palate, Micrognathia, S...	ORPHA:2980
Dominant Beta-Thalassemia	Decreased mean corpuscular volume, Abnormality of the dentition, Anisocytosis, Abnormality of iro...	ORPHA:231226
Gracile Bone Dysplasia	Failure to thrive, Hypocalcemia, Flared metaphysis, Brachydactyly, Slender long bone, Hypoplastic...	OMIM:602361
Marbach-Rustad Progeroid Syndrome	Eruption failure, Narrow mouth, Short clavicles, Hypodontia, Reduced bone mineral density, Microg...	OMIM:619322
Autosomal Recessive Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Hypocalcemia, Stenosis of the medullary cavity of the...	ORPHA:93324
Pseudoachondroplasia	Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e...	ORPHA:750
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Short clavicles, Bowing of the legs, Gingival overgrowth, Extra...	ORPHA:313855
Hypocalcemic Vitamin D-Resistant Rickets	Recurrent fractures, Bone cyst, Hypophosphatemia, Hypocalcemia, Abnormal hip bone morphology, Abn...	ORPHA:93160
Fibular Hemimelia	Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo...	ORPHA:93323
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Coxa vara, Severe short stature, Short long bone, Platyspondyly, Scoliosis, Genu varum, Enlarged ...	OMIM:618728
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Cardiospondylocarpofacial Syndrome	Severe short stature, High, narrow palate, Tooth malposition, Failure of eruption of permanent te...	ORPHA:3238
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia	ORPHA:46532
Splenogonadal Fusion With Limb Defects And Micrognathia	Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth	OMIM:183300
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Beta-Thalassemia Major	Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Abnormality of ...	ORPHA:231214
Van Buchem Disease	Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density	OMIM:239100
Kenny-Caffey Syndrome, Type 1	Hypomagnesemia, Hypocalcemia, Small hand, Anemia, Congenital hypoparathyroidism, Slender long bon...	OMIM:244460
Ollier Disease	Joint stiffness, Lymphangioma, Platyspondyly, Micromelia, Abnormal cartilage morphology, Osteolys...	ORPHA:296
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Increased bone mineral density, 2-3 finger syndacty...	ORPHA:3152
Trichorhinophalangeal Syndrome Type 2	Cone-shaped epiphyses of the phalanges of the hand, Supernumerary tooth, Joint dislocation, Abnor...	ORPHA:502
Vitamin D-Dependent Rickets, Type 3	Bowing of the legs, Metaphyseal cupping, Hypophosphatemia, Hypocalcemia, Osteopenia, Flared metap...	OMIM:619073
Osteogenesis Imperfecta, Type Xii	High palate, Narrow mouth, Malar flattening, Micrognathia, Delayed eruption of teeth, Osteoporosi...	OMIM:613849
Diastrophic Dysplasia	Macrocephaly, Cleft palate, Micromelia, Symphalangism affecting the phalanges of the hand, Ulnar ...	ORPHA:628
Craniosynostosis 2	Supernumerary tooth, Craniosynostosis, Brachydactyly, Triphalangeal thumb, Bicoronal synostosis, ...	OMIM:604757
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Anemia, Lymp...	ORPHA:37748
Winchester Syndrome	Broad metacarpals, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteo...	OMIM:277950
Tricho-Dento-Osseous Syndrome	Taurodontia, Increased bone mineral density, Periapical tooth abscess, Microdontia, Widely spaced...	ORPHA:3352
Flynn-Aird Syndrome	Joint stiffness, Increased bone mineral density, Osteoporosis, Carious teeth, Increased bone dens...	OMIM:136300
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u...	ORPHA:85188
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas...	OMIM:250460
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies	High palate, Anodontia, Dental malocclusion, Narrow palate, Supernumerary tooth, Failure to thriv...	OMIM:264475
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec...	ORPHA:2779
Hall-Riggs Mental Retardation Syndrome	Irregular vertebral endplates, U-Shaped upper lip vermilion, Kyphosis, Metaphyseal dysplasia, Hyp...	OMIM:234250
Osteoglophonic Dysplasia	High palate, Broad phalanx, Craniosynostosis, Rhizomelia, Bowing of the long bones, Mandibular pr...	OMIM:166250
Odontochondrodysplasia 1	Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Delayed eruption of teeth, Sma...	OMIM:184260
Metaphyseal Chondrodysplasia, Schmid Type	Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ...	ORPHA:174
Pycnodysostosis	High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ...	ORPHA:763
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Kyphosis, Macrocephaly, Hypocalcemia, Osteopetrosis, Metaphyseal widening, Platyspondyly	OMIM:618476
Hypochondroplasia	Childhood onset short-limb short stature, Lumbar hyperlordosis, Malar flattening, Flared metaphys...	OMIM:146000
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Decreased body weight, Delayed ossification of carpal bones, Small for gestational age,...	OMIM:618392
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt...	OMIM:617780
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome	Supernumerary tooth, Micrognathia, Hypoplasia of the zygomatic bone, Carious teeth, Limitation of...	ORPHA:3145
Lenz-Majewski Hyperostotic Dwarfism	Wide mouth, Macrocephaly, Elbow ankylosis, Cleft palate, Symphalangism affecting the phalanges of...	ORPHA:2658
Refractory Anemia	Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut...	ORPHA:98826
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	High palate, Osteopenia, Platyspondyly, Delayed eruption of teeth, Tapered finger, Flat capital f...	OMIM:612350
Hypocalcemic Vitamin D-Dependent Rickets	Secondary hyperparathyroidism, Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone...	ORPHA:289157
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of femur morphology, Tooth agenesis, Narrow palate, Congenital diaphragmatic hernia, ...	ORPHA:2063
Cleidocranial Dysplasia 1	High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Absent frontal sin...	OMIM:119600
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Pseudopseudohypoparathyroidism	Short stature, Short neck, Brachydactyly, Delayed eruption of teeth, Osteoporosis, Enamel hypopla...	OMIM:612463
Alpha-Heavy Chain Disease	Hypocalcemia, Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy	ORPHA:100025
Refractory Celiac Disease	Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ...	ORPHA:398063
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Tooth malposition, Malar flattenin...	ORPHA:2769
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Oculoskeletodental Syndrome	Hypocalcemia, Hepatomegaly, Macroglossia, Splenomegaly, Small for gestational age, Oligodontia, S...	OMIM:618440
Pseudohypoparathyroidism Type 1B	Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Decreased response to growth ...	ORPHA:94089
Metatropic Dysplasia	Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Disproportionate short-trunk short s...	OMIM:156530
Aredyld Syndrome	Narrow mouth, Craniofacial hyperostosis, Hepatomegaly, Splenomegaly, Upslanted palpebral fissure,...	ORPHA:1133
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy, Clinodactyly of the 5th toe	ORPHA:99977
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Anodontia, Increased bone mineral density, Cleft palate, Abnormal...	ORPHA:90650
Craniometadiaphyseal Dysplasia	High palate, Sclerosis of skull base, Macrocephaly, Broad long bones, Wide anterior fontanel, Mal...	OMIM:269300
Cartilage-Hair Hypoplasia	Hepatomegaly, Sparse eyebrow, Abnormally ossified vertebrae, Micromelia, Abnormality of the pancr...	ORPHA:175
Pycnodysostosis	Narrow palate, Persistence of primary teeth, Increased bone mineral density, Hypodontia, Spondylo...	OMIM:265800
Autosomal Dominant Hypophosphatemic Rickets	Bowing of the legs, Hypophosphatemia, Hypocalcemia, Osteomalacia, Iron deficiency anemia, Tooth a...	ORPHA:89937
Majeed Syndrome	Metaphyseal irregularity, Failure to thrive, Osteomyelitis, Hepatomegaly, Increased bone mineral ...	ORPHA:77297
Impacted Teeth, Multiple	Multiple impacted teeth, Supernumerary tooth	OMIM:308280
Brachydactyly, Type E1	Short clavicles, Brachydactyly, Type E brachydactyly, Multiple impacted teeth, Short metatarsal, ...	OMIM:113300
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	High palate, Slanting of the palpebral fissure, Abnormality of the dentition, Tapered finger, Pri...	ORPHA:476126
X-Linked Agammaglobulinemia	Failure to thrive, Sinusitis, Osteomyelitis, Hypocalcemia, Glossoptosis, Abnormality of the lymph...	ORPHA:47
Dentinogenesis Imperfecta	Persistence of primary teeth, Fragile teeth, Joint hypermobility, Generalized hypoplasia of denta...	ORPHA:49042
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Hamstring contractures, Scapular muscle atrophy, Pectoralis amyotrophy, Flexion contracture, Calf...	ORPHA:267
Trichorhinophalangeal Syndrome Type 1 And 3	High palate, Short distal phalanx of finger, Clinodactyly of the 5th finger, Supernumerary tooth,...	ORPHA:77258
Rutherfurd Syndrome	Delayed eruption of primary teeth, Failure of eruption of permanent teeth	OMIM:180900
Acromesomelic Dysplasia, Maroteaux Type	Joint stiffness, Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral...	ORPHA:40
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	High palate, Slender finger, Cleft palate, Platyspondyly, Anisospondyly, Hemiatrophy of upper lim...	ORPHA:163649
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Genu valgum...	ORPHA:2972
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os...	OMIM:601376
Rothmund-Thomson Syndrome	Abnormality of the dentition, Osteopenia, Delayed eruption of teeth, Microdontia, Carious teeth, ...	ORPHA:2909
Multiple Epiphyseal Dysplasia Type 1	Joint stiffness, Delayed epiphyseal ossification, Coxa vara, Short long bone, Finger joint hyperm...	ORPHA:93308
Tricho-Retino-Dento-Digital Syndrome	Supernumerary tooth, Abnormality of the dentition, Oligodontia, Brachydactyly, Short 5th metacarpal	ORPHA:1264
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi...	OMIM:181350
Ghosal Hematodiaphyseal Dysplasia	Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Leukopenia, Refrac...	OMIM:231095
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Wide anterior fontanel, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, D...	OMIM:617241
Osteopetrosis With Renal Tubular Acidosis	High palate, Hepatomegaly, Abnormality of the dentition, Pancytopenia, Bone marrow hypocellularit...	ORPHA:2785
Osteogenesis Imperfecta, Type Xiii	Dislocated radial head, Kyphoscoliosis, Decreased body weight, Increased bone mineral density, Sh...	OMIM:614856
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Agenesis of molar, Supernumerary tooth, Osteopenia, Hypogonadotropic hypogonadism, Diastema, Micr...	OMIM:619718
Melorheostosis	Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in...	ORPHA:2485
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy...	ORPHA:86841
Trisomy 9P	Kyphosis, Clinodactyly of the 5th finger, Impacted tooth, Short neck, Scoliosis, Brachydactyly, D...	ORPHA:236
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Cryptorchidism, Decreased response to growth hormone stimulation test, Small hand, ...	OMIM:241410
Congenital Disorder Of Glycosylation, Type Iik	Epiphyseal dysplasia, Kyphoscoliosis, Metaphyseal dysplasia, Hepatomegaly, Failure to thrive, Mal...	OMIM:614727
Craniometadiaphyseal Dysplasia, Wormian Bone Type	High palate, Obtuse angle of mandible, Wide anterior fontanel, Macrocephaly, Increased bone miner...	ORPHA:85184
Fetal Cytomegalovirus Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:294
Legg-Calvé-Perthes Disease	Abnormality of the dentition, Cartilage destruction, Short stature	ORPHA:2380
Beta-Thalassemia Intermedia	Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,...	ORPHA:231222
Immunodeficiency 42	Hypoplasia of the thymus	OMIM:616622
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ...	OMIM:600785
12Q14 Microdeletion Syndrome	Failure to thrive, Clinodactyly of the 5th finger, Thick eyebrow, Hypodontia, Thin vermilion bord...	ORPHA:94063
Short Rib-Polydactyly Syndrome	Cleft palate, Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Short l...	ORPHA:1505
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Premature loss of teeth, Metaphyseal dysplasia, Thin vermilion border, Short philtrum, Flared met...	OMIM:156510
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle hypertrophy, Proximal muscle weakness in lower limbs, Weakness of facial musculat...	OMIM:619566
Reticular Dysgenesis	Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis	OMIM:267500
Dysosteosclerosis	Abnormal dental enamel morphology, Recurrent fractures, Irregular vertebral endplates, Hypoplasti...	ORPHA:1782
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Adducted thumb, Decreased testicular size, Growth delay, Thrombocytopenia	OMIM:601815
Spondylometaphyseal Dysplasia, Kozlowski Type	Abnormal humeral metaphysis morphology, Platyspondyly, Disproportionate short-trunk short stature...	ORPHA:93314
Zimmermann-Laband Syndrome	High palate, Wide mouth, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossia, Micrognathi...	ORPHA:3473
Osteolysis Syndrome, Recessive	Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan...	OMIM:259610
Congenital Disorder Of Glycosylation, Type Ie	Failure to thrive, High, narrow palate, Small hand, Micrognathia, Muscular dystrophy, Upper limb ...	OMIM:608799
Hypophosphatasia	Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Bowing of the long bones, Em...	ORPHA:436
Pseudoachondroplasia	Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma...	OMIM:177170
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Muscular dystrophy, Osteoporosis	OMIM:204730
Craniodiaphyseal Dysplasia, Autosomal Dominant	Facial diplegia, Cortical sclerosis, Macrocephaly, Diaphyseal sclerosis, Craniofacial osteosclero...	OMIM:122860
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Decreased circula...	OMIM:300400
Shwachman-Diamond Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Osteopenia, Aplastic anemia, Delayed eruption of...	ORPHA:811
Oligodontia	Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg...	ORPHA:99798
Dysosteosclerosis	High palate, Short sternum, Osteopenia, Platyspondyly, Delayed eruption of teeth, Sclerotic scapu...	OMIM:224300
Roifman Syndrome	Epiphyseal dysplasia, Short toe, Clinodactyly of the 5th finger, Hip contracture, Delayed proxima...	ORPHA:353298
Dysostosis, Stanescu Type	Tooth agenesis, Increased bone mineral density, Macroglossia, Massively thickened long bone corti...	ORPHA:1798
Glycerol Kinase Deficiency	Small for gestational age, Muscular dystrophy, Osteoporosis, Pathologic fracture, Downturned corn...	OMIM:307030
Syndactyly Type 4	Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ...	ORPHA:93405
Metatropic Dysplasia	Joint stiffness, Kyphosis, Halberd-shaped pelvis, Coarse metaphyseal trabecularization, Clinodact...	ORPHA:2635
Schwartz-Jampel Syndrome	High palate, Pursed lips, Cleft palate, Abnormally ossified vertebrae, Micromelia, Genu valgum, A...	ORPHA:800
Lethal Recessive Chondrodysplasia	Macroglossia, Micrognathia, Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbo...	ORPHA:1423
Cartilage-Hair Hypoplasia	Sparse hair, Sparse eyebrow, Femoral bowing, Macrocytic anemia, Neonatal short-limb short stature...	OMIM:250250
Weismann-Netter Syndrome	Kyphosis, Abnormality of femur morphology, Tibial bowing, Severe short stature, Abnormal morpholo...	ORPHA:3344
Osteosclerosis With Ichthyosis And Fractures	Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density	OMIM:166740
Slc35A2-Cdg	Talipes equinovarus, Craniosynostosis, Increased circulating thyroglobulin level, Short tibia, Ap...	ORPHA:356961
Mu-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Abnormal B cell count, Osteoporosis, Osteolysis, Anemia, Lymphadenopathy	ORPHA:100024
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Short distal phalanx of finger, Microcephaly, Brachydactyly, Osteoporosis, Wormian bones, Joint h...	ORPHA:2787
Short Stature, Brussels Type	Delayed epiphyseal ossification, Microretrognathia, Short stature, Calcification of cartilage, Gr...	ORPHA:2867
Frank-Ter Haar Syndrome	Joint stiffness, Wide mouth, Gingival overgrowth, Premature loss of teeth, Kyphosis, Beaking of v...	ORPHA:137834
Myopathy, Distal, 3	Joint contracture of the hand, EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles,...	OMIM:610099
Odontochondrodysplasia	Dentinogenesis imperfecta, Short stature, Retrognathia, Cone-shaped epiphysis, Platyspondyly, Sco...	ORPHA:166272
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Cholestas...	OMIM:619658
Ramon Syndrome	Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Osteolysis, Abnormal dental enam...	ORPHA:3019
Vitamin D-Dependent Rickets, Type 2A	Femoral bowing, Delayed eruption of teeth, Carious teeth, Thin bony cortex, Metaphyseal irregular...	OMIM:277440
Gaucher Disease Type 1	Kyphosis, Hepatomegaly, Increased bone mineral density, Splenomegaly, Cirrhosis, Leukopenia, Oste...	ORPHA:77259
Orofaciodigital Syndrome Type 5	Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth...	ORPHA:2919
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Failure to thrive, ...	OMIM:264700
Diamond-Blackfan Anemia 6	Cleft upper lip, Increased mean corpuscular volume, Cleft palate, Tracheomalacia, Retrognathia, M...	OMIM:612561
Sanjad-Sakati Syndrome	Hypoparathyroidism, Hypocalcemia, Small hand, Abnormality of the dentition, Microcephaly, Microgn...	ORPHA:2323
Omenn Syndrome	Hepatomegaly, Splenomegaly, Alopecia, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocyto...	OMIM:603554
Chromosome 5Q Deletion Syndrome	Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia	OMIM:153550
Multiminicore Myopathy	Joint stiffness, Failure to thrive, Abnormal muscle fiber morphology, Proximal muscle weakness in...	ORPHA:598
Osteosclerotic Metaphyseal Dysplasia	Clavicular sclerosis	OMIM:615198
Muscular Dystrophy, Congenital, Lmna-Related	Congenital muscular dystrophy, Failure to thrive, Generalized amyotrophy, Flexion contracture	OMIM:613205
Hennekam Syndrome	Lymphangioma, Craniosynostosis, Short philtrum, Delayed eruption of teeth, Tooth agenesis, Spleno...	ORPHA:2136
Carpenter Syndrome 1	High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Genu valgum, Sagittal cranio...	OMIM:201000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Left ventricular hypertrophy, Mus...	OMIM:613156
Glycoprotein Storage Disease	Gout, Splenomegaly	OMIM:232900
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Overlapping toe, Clinodactyly of the 5th finger, Short stature, Camptodactyly, Short thumb	OMIM:618453
Camurati-Engelmann Disease	Slender build, Sclerosis of skull base, Cortical thickening of long bone diaphyses, Diaphyseal sc...	OMIM:131300
Premature Aging Syndrome, Penttinen Type	Thin vermilion border, Micrognathia, Osteopenia, Delayed cranial suture closure, Brachydactyly, D...	OMIM:601812
Oculocerebrodental Syndrome	Metaphyseal dysplasia, Hypocalcemia, Retrognathia, Abnormality of the dentition, Oligodontia, Sho...	ORPHA:557003
Stuve-Wiedemann Syndrome 1	Pursed lips, Femoral bowing, Ulnar deviation of finger, Carious teeth, Pulmonary hypoplasia, Cont...	OMIM:601559
Otodental Dysplasia	Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ...	OMIM:166750
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Short stature,...	OMIM:615631
Muscular dystrophy, limb-girdle, type 2R	Muscular dystrophy, Scapular winging, Elbow flexion contracture, Facial palsy	OMIM:615325
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox...	OMIM:206000
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational...	OMIM:608154
Dyssegmental Dysplasia With Glaucoma	Hip contracture, Delayed epiphyseal ossification, Malar flattening, Cleft palate, Short stature, ...	OMIM:601561
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Short 3rd metacarpal, Calcinosis, Broad distal phalanx of the thumb, S...	ORPHA:79444
Congenital Disorder Of Glycosylation, Type Ig	Failure to thrive, Hypocalcemia, Talipes equinovarus, Butterfly vertebrae, Short femur, Hypoplasi...	OMIM:607143
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism	Microcephaly, Hypoplasia of the maxilla, Craniosynostosis	OMIM:608432
Anemia, Congenital Dyserythropoietic, Type Ia	Anemia of inadequate production, Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, A...	OMIM:224120
Brachyolmia Type 1, Toledo Type	Precocious costochondral ossification, Squared-off platyspondyly, Kyphoscoliosis, Irregular verte...	OMIM:271630
Spondylometaphyseal Dysplasia, Schmidt Type	Platyspondyly, Disproportionate short-trunk short stature, Irregular acetabular roof, Genu valgum...	ORPHA:93316
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Dentinogenesis imperfecta, Toe clinodactyly, Wormian bones, Upper limb undergrowth, Pathologic fr...	ORPHA:166277
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Flexion contracture, Macroglossia, Muscular dystrophy, Microcephaly, Congenital muscular dystroph...	OMIM:613155
Spondylocostal Dysostosis 3, Autosomal Recessive	Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the...	OMIM:609813
Diamond-Blackfan Anemia 8	Thick upper lip vermilion, Increased mean corpuscular volume, Short stature, Macrocytic anemia, N...	OMIM:612563
Lethal Faciocardiomelic Dysplasia	Narrow mouth, Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5...	ORPHA:1972
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Failure to thrive, Hepatomegaly, Scoliosis, Macrovesicular hepatic steatosis, Osteoporosis	OMIM:618234
Naegeli-Franceschetti-Jadassohn Syndrome	Premature loss of teeth, Flexion contracture of finger, Supernumerary tooth, Abnormality of the d...	ORPHA:69087
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v...	OMIM:601954
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Carious teeth, Rocker bottom foot, Flexion contracture, Micrognathia, ...	OMIM:214150
Roifman Syndrome	Hepatomegaly, Prominent eyelashes, Downslanted palpebral fissures, Clinodactyly of the 5th finger...	OMIM:616651
Hypophosphatasia, Infantile	Bowing of the legs, Failure to thrive, Metaphyseal cupping, Short ribs, Craniosynostosis, Abnorma...	OMIM:241500
Classic Multiminicore Myopathy	High palate, Multiple joint contractures, Failure to thrive, Muscle fiber atrophy, Microretrognat...	ORPHA:324604
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Short 1st metacarpal, Short neck, Platyspondyly, Monkey wrenc...	OMIM:251450
Léri-Weill Dyschondrosteosis	Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ...	ORPHA:240
Nance-Horan Syndrome	Abnormality of the dentition, Supernumerary tooth, Short metacarpal, Mandibular prognathia	ORPHA:627
Lipodystrophy, Congenital Generalized, Type 3	Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste...	OMIM:612526
Hypothyroidism, Congenital, Nongoitrous, 6	Relative macrocephaly, Macroglossia, Increased body mass index, Congenital hip dislocation, Delay...	OMIM:614450
Camurati-Engelmann Disease	Abnormality of femur morphology, Hepatomegaly, Abnormality of the humerus, Delayed eruption of te...	ORPHA:1328
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Neutropenia, Syndactyly, Osteoporosis, Macrocytic anemia, Clin...	ORPHA:2169
Spondyloepiphyseal Dysplasia, Stanescu Type	Joint stiffness, Kyphoscoliosis, Beaking of vertebral bodies, Hypoplastic ilia, Platyspondyly, Tr...	OMIM:616583
Acrofacial Dysostosis, Palagonia Type	Supernumerary tooth, High, narrow palate, Malar flattening, Small hand, Micrognathia, Oligodontia...	ORPHA:1787
Primary Myelofibrosis	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomeg...	ORPHA:824
Growth Hormone Insensitivity Syndrome	Failure to thrive, Everted lower lip vermilion, Microcephaly, Delayed eruption of teeth, Truncal ...	ORPHA:181393
Infantile Liver Failure Syndrome 1	Hepatomegaly, Long toe, Long fingers, Macrocytic anemia, Anemia, Hepatic steatosis	OMIM:615438
Hallermann-Streiff Syndrome	High palate, Dental malocclusion, Narrow mouth, Narrow palate, Supernumerary tooth, High, narrow ...	OMIM:234100
Ck Syndrome	High palate, Kyphosis, Slender build, Malar flattening, Retrognathia, Micrognathia, Scoliosis, Hy...	OMIM:300831
Osteogenesis Imperfecta, Type Xxii	Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Wormian bones, Slen...	OMIM:619795
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Macrocephaly, Hypocalcemia, Increased bone mineral density, Small for gestati...	OMIM:127000
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora...	OMIM:609223
Chondrodysplasia, Blomstrand Type	Advanced ossification of carpal bones, Malar flattening, Short ribs, Micrognathia, Flared metaphy...	OMIM:215045
Leri-Weill Dyschondrosteosis	High palate, Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valg...	OMIM:127300
Spondylocarpotarsal Synostosis Syndrome	Cleft palate, Short neck, Disproportionate short-trunk short stature, Block vertebrae, Vertebral ...	OMIM:272460
Multicentric Carpotarsal Osteolysis Syndrome	Ulnar deviation of the hand, Congenital diaphragmatic hernia, Metatarsal osteolysis, Micrognathia...	OMIM:166300
Catifa Syndrome	Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Mild microcephaly, Cam...	OMIM:618761
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	High palate, Alveolar ridge overgrowth, Hypocalcemia, Hepatomegaly, Cleft palate, Splenomegaly, M...	OMIM:235255
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Microcephaly, Muscular dystrophy, Limb-girdle muscle weakness, Flexion contracture	OMIM:609308
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Ankle flexion contracture, Increased endomysial connective tissue, Flexion contracture, Muscular ...	OMIM:617072
Brachydactyly, Type B1	Wide anterior fontanel, Joint contracture of the hand, Cutaneous finger syndactyly, Delayed crani...	OMIM:113000
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology	ORPHA:3196
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Malar flattening, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint la...	OMIM:130060
Tyrosinemia Type 1	Rickets of the lower limbs, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly	ORPHA:882
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Narrow mouth, Clinodactyly of the 5th finger, Reduced bone mineral density, Thin vermilion border...	ORPHA:2370
Brachycephaly, Trichomegaly, And Developmental Delay	High palate, Supernumerary tooth, Prominent fingertip pads, Thin vermilion border, Microcephaly, ...	OMIM:617412
Grant Syndrome	Joint dislocation, Open bite, Abnormality of the glenoid fossa, Micrognathia, Joint hyperflexibil...	ORPHA:2097
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Growth delay, Hypersegmentation of neutrophil nuclei	OMIM:229100
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Flexion contracture, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle weakn...	OMIM:608423
Rothmund-Thomson Syndrome, Type 2	High palate, Supernumerary tooth, Talipes equinovarus, Small for gestational age, Small hand, Mic...	OMIM:268400
Muscular Dystrophy, Congenital, Merosin-Positive	Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph...	OMIM:609456
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Acromesomelic Dysplasia 2A	Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H...	OMIM:200700
Folate Malabsorption, Hereditary	Leukopenia, Oral ulcer, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia	OMIM:229050
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange...	OMIM:609616
Osteogenesis Imperfecta, Type V	Recurrent fractures, Limited pronation/supination of forearm, Dentinogenesis imperfecta, Anterior...	OMIM:610967
Craniometaphyseal Dysplasia, Autosomal Recessive	Metaphyseal dysplasia, Macrocephaly, Patchy sclerosis of finger phalanx, Flared metaphysis, Club-...	OMIM:218400
Hallermann-Streiff Syndrome	Abnormality of the fontanelles or cranial sutures, Recurrent fractures, Abnormality of the tongue...	ORPHA:2108
Poems Syndrome	Sclerosis of skull base, Sclerosis of foot bone, Metaphyseal sclerosis, Polycythemia, Sclerosis o...	ORPHA:2905
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Delayed eruption of teeth, Microdontia, Carious teeth, Coxa magna, Flat capital femor...	OMIM:190350
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Delayed eruption of teeth, Thin bony cortex, Thin metacarpal cortices, C1-C2 subluxat...	OMIM:259600
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short distal phalanx of finger, Dental malocclusion, Kyphosis, Short stature, Abnormality of the ...	ORPHA:1858
Singleton-Merten Syndrome 1	Expanded metacarpals with widened medullary cavities, Tendon rupture, Osteopenia, Carious teeth, ...	OMIM:182250
Celiac Disease, Susceptibility To, 1	Infertility, Decreased circulating IgA level, Alopecia, Short stature, Rickets, Osteoporosis, Mac...	OMIM:212750
Orofaciodigital Syndrome Viii	High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Telecanthus, Recurrent aspiratio...	OMIM:300484
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta	Dentinogenesis imperfecta, Epiphyseal streaking, Clinodactyly of the 4th toe, Wormian bones, Limi...	OMIM:604922
Smith-Mccort Dysplasia 1	Multicentric femoral head ossification, Kyphosis, Beaking of vertebral bodies, Metaphyseal irregu...	OMIM:607326
Teeth, Supernumerary	Supernumerary tooth, Mesiodens	OMIM:187100
Alpha-Mannosidosis	Dental malocclusion, Gingival overgrowth, Macrocephaly, Narrow palate, Hepatomegaly, Macroglossia...	ORPHA:61
Oncogenic Osteomalacia	Abnormality of femur morphology, Tibial bowing, Hypophosphatemia, Fibrous dysplasia of the bones,...	ORPHA:352540
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia, Growth delay	OMIM:243320
Wt Limb-Blood Syndrome	Hypoplastic anemia, Clinodactyly of the 5th finger, Absent thumb, Retrognathia, Micrognathia, Uln...	OMIM:194350
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations	Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of...	ORPHA:93360
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	High palate, Persistence of primary teeth, Supernumerary tooth, Talipes equinovarus, Increased su...	OMIM:619752
Chst3-Related Skeletal Dysplasia	Kyphoscoliosis, Flexion contracture, Long philtrum, Delayed eruption of teeth, Scoliosis, Abnorma...	ORPHA:263463
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul...	OMIM:600081
Fibromatosis, Gingival, With Distinctive Facies	High palate, Macrocephaly, Persistence of primary teeth, Everted lower lip vermilion, Gingival fi...	OMIM:228560
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Short 3rd metacarpal, Calcinosis, Broad distal phalanx of the thumb, S...	ORPHA:79443
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Flexion contracture of thumb, Hepatomegaly, Hepatoblastoma, Absent glenoid fossa, Clinodactyly of...	ORPHA:96334
Osteopetrosis, Autosomal Dominant 3	Premature loss of teeth, Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopenia, Gingivitis,...	OMIM:618107
Melnick-Needles Syndrome	Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl...	ORPHA:2484
Spondyloepimetaphyseal Dysplasia, Shohat Type	Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Hepatomegaly, Lumbar hyperl...	OMIM:602557
Kniest Dysplasia	Cleft palate, Short neck, Platyspondyly, Disproportionate short-trunk short stature, Hypoplastic ...	OMIM:156550
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	High palate, Recurrent fractures, Persistence of primary teeth, Craniosynostosis, Osteopenia, Eos...	OMIM:147060
Bruck Syndrome 1	Hip contracture, Kyphosis, Coxa vara, Short stature, Platyspondyly, Scoliosis, Osteoporosis, Prot...	OMIM:259450
Pseudohypoparathyroidism, Type Ia	Short toe, Subcutaneous ossification, Brachydactyly, Delayed eruption of teeth, Osteoporosis, Ena...	OMIM:103580
Cranioectodermal Dysplasia 1	High palate, Hepatomegaly, Microdontia, Malformation of the hepatic ductal plate, Hepatic cysts, ...	OMIM:218330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Joint contracture of the hand, Macroglossia, Skeletal muscle hypertrophy, Calf muscle hypertrophy...	OMIM:608840
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Sclerosis of skull base, Kyphosis, Severe short stature, Hyperextensibility of t...	OMIM:313420
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Myelofibrosis, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia,...	OMIM:301078
Short Stature-Wormian Bones-Dextrocardia Syndrome	High palate, Tooth agenesis, Micrognathia, Camptodactyly of finger, Brachydactyly, Delayed erupti...	ORPHA:2863
Hall-Riggs Syndrome	Joint stiffness, Wide mouth, Failure to thrive, Short stature, Platyspondyly, Scoliosis, Delayed ...	ORPHA:2107
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy	Postnatal growth retardation, Contractures of the large joints, Osteoporosis, Short stature	OMIM:608278
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Flexion contracture, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle f...	OMIM:603511
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti...	ORPHA:3202
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Abnormal hip bone morphology, Foot acroosteolysis, Abnormality of t...	ORPHA:970
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase level	OMIM:615909
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Kyphosis, Disproportionate short-limb short stature, Dentinogenesis imperfec...	OMIM:259440
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Metaphyseal dysplasia, Macrocephaly, Decreased response to growth hormone s...	OMIM:614732
Adenocarcinoma Of The Esophagus	Obesity, Lymphadenopathy, Clinodactyly of the 5th toe	ORPHA:99976
Acromicric Dysplasia	Narrow mouth, Fifth metacarpal with ulnar notch, Severe short stature, Short metacarpal, Cone-sha...	OMIM:102370
Spondyloepimetaphyseal Dysplasia, Shohat Type	Platyspondyly, Short neck, Abnormal epiphysis morphology, Generalized bone demineralization, Prem...	ORPHA:93352
Osebold-Remondini Syndrome	Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short...	OMIM:112910
Muscular Dystrophy, Congenital, 1B	Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid...	OMIM:604801
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo...	OMIM:604286
Congenital Muscular Dystrophy Without Intellectual Disability	Facial diplegia, Reduced muscle fiber alpha dystroglycan, EMG: myopathic abnormalities, Limb-gird...	ORPHA:370980
Spondyloepimetaphyseal Dysplasia With Joint Laxity	High palate, Cleft palate, Platyspondyly, Ulnar deviation of finger, Abnormal epiphysis morpholog...	ORPHA:93359
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss...	ORPHA:93346
Gingival Fibromatosis-Facial Dysmorphism Syndrome	High palate, Gingival overgrowth, Macrocephaly, Everted lower lip vermilion, Delayed eruption of ...	ORPHA:2025
Autoimmune Polyendocrinopathy Type 4	Thymoma, Alopecia, Hypergonadotropic hypogonadism, Osteopenia, Leukopenia, Xerostomia, Autoimmune...	ORPHA:227990
Rigid Spine Muscular Dystrophy 1	High palate, Failure to thrive, Increased endomysial connective tissue, Decreased body weight, Fl...	OMIM:602771
Urban-Rogers-Meyer Syndrome	Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Short stature, Micrognathia, Campt...	ORPHA:3409
Atelosteogenesis, Type Ii	Lacunar halos around chondrocytes, Lumbar hyperlordosis, Malar flattening, Cleft palate, Horizont...	OMIM:256050
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen...	ORPHA:75564
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Failure to thrive, Severe intrauterine growth retardation, Clinodactyly of the 5th finger, Small ...	ORPHA:73272
Acromesomelic Dysplasia, Grebe Type	Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydacty...	ORPHA:2098
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Ankle flexion contracture, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, ...	OMIM:613818
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Congenital muscular dystrophy, Cubitus valgus, Joint hyperflexibility, Hypogonadism	ORPHA:1875
Mucopolysaccharidosis, Type Ivb	Wide mouth, Pointed proximal second through fifth metacarpals, Hepatomegaly, Platyspondyly, Cario...	OMIM:253010
Autoimmune Polyendocrinopathy Type 3	Thymoma, Graves disease, Alopecia, Hypergonadotropic hypogonadism, Osteopenia, Leukopenia, Xerost...	ORPHA:227982
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2027
Ullrich Congenital Muscular Dystrophy 1	High palate, Muscle fiber necrosis, Torticollis, Slender build, Failure to thrive, Talipes equino...	OMIM:254090
Acrodysostosis	Short toe, Abnormal morphology of ulna, Open bite, Hypoplasia of the radius, Cone-shaped epiphysi...	ORPHA:950
Microcephaly-Micromelia Syndrome	Forearm undergrowth, Narrow mouth, Talipes equinovarus, Short palpebral fissure, Cleft palate, Cr...	OMIM:251230
Neu-Laxova Syndrome	Cleft palate, Osteopenia, Micromelia, Hypogonadism, Pterygium, Trismus, Skeletal muscle atrophy, ...	ORPHA:2671
Brachydactyly, Type E2	Short stature, Oligodontia, Brachydactyly, Delayed eruption of teeth, Short metatarsal, Short met...	OMIM:613382
Paget Disease Of Bone 5, Juvenile-Onset	Premature loss of teeth, Failure to thrive, Macrocephaly, Relative macrocephaly, Increased bone m...	OMIM:239000
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating IgG level, Cervical lymphadenopathy, Abnormally low T cell receptor excisio...	OMIM:618987
Vitamin B12-Unresponsive Methylmalonic Acidemia	Pancreatitis, Hepatomegaly, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia	ORPHA:27
Marinesco-Sjögren Syndrome	Abnormality of finger, Coxa valga, Microcephaly, Muscular dystrophy, Hip dysplasia, Avascular nec...	ORPHA:559
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Muscular dystrophy, Calf muscle pseudohypertrophy, Scapular winging, Limited shoulder movement, A...	ORPHA:62
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased...	OMIM:254110
Dysspondyloenchondromatosis	Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Short stature, Osteoarth...	ORPHA:85198
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Abnormality of the d...	ORPHA:457395
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Cleft palate, Osteopenia, Osteoporosis, Macrocytic anemia, Tri...	OMIM:612562
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Myopathy, Myofibrillar, 6	EMG: myopathic abnormalities, Muscular dystrophy, Myofibrillar myopathy, Knee flexion contracture...	OMIM:612954
48,Xxyy Syndrome	Infertility, Taurodontia, Clinodactyly of the 5th finger, Azoospermia, Cleft palate, Open bite, H...	ORPHA:10
Immunodeficiency 105	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat...	OMIM:619924
Pseudohypoparathyroidism, Type Ic	Brachydactyly, Delayed eruption of teeth, Osteoporosis, Enamel hypoplasia, Hypocalcemic tetany, H...	OMIM:612462
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ...	ORPHA:2585
Gapo Syndrome	Wide anterior fontanel, Eruption failure, Hepatomegaly, High, narrow palate, Sparse eyebrow, Spar...	OMIM:230740
Spondyloepiphyseal Dysplasia Congenita	Cleft palate, Abnormally ossified vertebrae, Short neck, Platyspondyly, Upper limb undergrowth, D...	ORPHA:94068
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Tibial bowing, Radial bowing, Splenomegaly, Abnormally ossified vertebrae, Micrognathia, Upslante...	ORPHA:3035
Autosomal Recessive Hypophosphatemic Rickets	Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Spinal canal stenosis, Ti...	ORPHA:289176
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Micrognathia, Sparse eyelashes, Macrocytic anemia	OMIM:300946
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Cari...	OMIM:226670
Angioosteohypotrophic Syndrome	Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abnormal trabecular bone morphol...	ORPHA:75508
Frontometaphyseal Dysplasia 1	High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Scapular w...	OMIM:305620
Immunodeficiency 27A	Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hy...	OMIM:209950
Hereditary Spherocytosis	Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ...	ORPHA:822
Acrocephalopolydactyly	Genu recurvatum, Hepatosplenomegaly, Brachydactyly, Limb undergrowth, Epicanthus, Short long bone	ORPHA:221054
Thymic Neuroendocrine Tumor	Pituitary null cell adenoma, Pituitary adenoma, Chronic noninfectious lymphadenopathy, Osteopenia...	ORPHA:97289
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Autosomal Recessive Distal Osteolysis Syndrome	Short distal phalanx of finger, Abnormality of the dentition, Osteolysis, Hypoplasia of the maxilla	ORPHA:2776
Buschke-Ollendorff Syndrome	Joint stiffness, Recurrent fractures, Abnormal metaphysis morphology, Craniosynostosis, Flexion c...	ORPHA:1306
Duplication Of The Pituitary Gland	Abnormality of joint mobility, Wide mouth, Abnormality of the tongue, Decreased body weight, Supe...	ORPHA:314621
Mucopolysaccharidosis Type 4	Spinal canal stenosis, Wide mouth, Kyphosis, Reduced bone mineral density, Short stature, Abnorma...	ORPHA:582
Axial Osteomalacia	Osteomalacia, Increased bone mineral density	OMIM:109130
Mental Retardation, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Anodontia, Everted lower lip vermilion, Short stature, Oligodontia, Scoliosis, Tapered ...	ORPHA:276630
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, C...	OMIM:612714
Fetal Akinesia Deformation Sequence 4	High palate, Kyphosis, Flexion contracture, Retrognathia, Micrognathia, Short neck, Camptodactyly...	OMIM:618393
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2222
Lethal Osteosclerotic Bone Dysplasia	Gingival overgrowth, Retrognathia, Micrognathia, Microcephaly, Delayed cranial suture closure, Gi...	ORPHA:1832
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12	Calf muscle hypertrophy, EMG: myopathic abnormalities, Muscular dystrophy, Pelvic girdle muscle w...	OMIM:611307
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Oral ulcer, Lymphadenopathy	OMIM:618852
Camptodactyly Syndrome, Guadalajara Type 1	High palate, Dental malocclusion, Narrow mouth, Short distal phalanx of finger, Short toe, Open b...	ORPHA:1327
Three M Syndrome 2	High palate, Dental malocclusion, Lumbar hyperlordosis, Severe short stature, Malar flattening, S...	OMIM:612921
Diamond-Blackfan Anemia 11	Anemia of inadequate production, Cleft palate, Absent thumb, Hypoplasia of the radius, Short stat...	OMIM:614900
Temple-Baraitser Syndrome	High palate, Wide mouth, Short phalanx of the thumb, Delayed eruption of teeth, Long eyelashes, T...	ORPHA:420561
Microphthalmia With Limb Anomalies	High palate, Cleft palate, Macrodontia, Sandal gap, Hypoplasia of the maxilla, Bowing of the long...	ORPHA:1106
Dpm1-Cdg	U-Shaped upper lip vermilion, Failure to thrive, Long hallux, High, narrow palate, Micrognathia, ...	ORPHA:79322
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet	Micrognathia, Broad phalanx, Broad metatarsal, Prominent metopic ridge	OMIM:275595
Mucopolysaccharidosis, Type Iva	Wide mouth, Pointed proximal second through fifth metacarpals, Hepatomegaly, Anterior beaking of ...	OMIM:253000
Autosomal Recessive Robinow Syndrome	Wide mouth, Macrocephaly, Abnormality of the dentition, Short philtrum, Tented upper lip vermilio...	ORPHA:1507
Orofaciodigital Syndrome Iii	Supernumerary tooth, Short sternum, Bifid tongue, Bifid uvula, Microdontia, Postaxial hand polyda...	OMIM:258850
Temtamy Preaxial Brachydactyly Syndrome	Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A...	ORPHA:363417
Laron Syndrome	Short toe, Tooth agenesis, Micrognathia, Osteoarthritis, Brachydactyly, Delayed eruption of teeth...	ORPHA:633
Muscular Dystrophy, Congenital, Megaconial Type	Microcephaly, Muscular dystrophy, Congenital muscular dystrophy, Facial palsy, Myopathy	OMIM:602541
Double Outlet Right Ventricle	Hypoparathyroidism, Failure to thrive, Narrow mouth, Hypocalcemia, Abnormality of cartilage of ex...	ORPHA:3426
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Dental malocclusion, Joint stiffness, Metaphyseal irregularity, Tibial bowing, Metaphyseal cuppin...	OMIM:608940
Codas Syndrome	Short metacarpal, Short stature, Congenital hip dislocation, Scoliosis, Delayed eruption of teeth...	ORPHA:1458
Wolfram Syndrome, Mitochondrial Form	Megaloblastic anemia, Sideroblastic anemia, Neutropenia, Diabetes mellitus, Thrombocytopenia, Dia...	OMIM:598500
Congenital Bile Acid Synthesis Defect Type 2	Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Extramedullary hematop...	ORPHA:79303
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	High palate, Alveolar ridge overgrowth, Hypocalcemia, Hepatomegaly, Hypoproteinemia, Splenomegaly...	ORPHA:1655
Sponastrime Dysplasia	Platyspondyly, Biconcave vertebral bodies, Microdontia, Hypoplasia of the nasal bone, Genu valgum...	ORPHA:93357
Immunodeficiency 75	Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:619126
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Failure to thrive, Kyphosis, Narrow mouth, Short stature, Tongue fasciculations, Hip dysplasia	OMIM:620007
Cherubism	Alveolar ridge overgrowth, Dental malocclusion, Narrow palate, Submandibular lymph node enlargeme...	OMIM:118400
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased circulating IgA lev...	OMIM:601859
Gorham-Stout Disease	Abnormality of femur morphology, Mandibular pain, Abnormality of finger, Lymphangioma, Abnormal b...	ORPHA:73
Rhizomelic Chondrodysplasia Punctata, Type 1	Kyphoscoliosis, Severe short stature, Cleft palate, Flexion contracture, Malar flattening, Microg...	OMIM:215100
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Oral ulcer, Pneumonia, Failure to thrive secondary...	OMIM:608971
Multiple Epiphyseal Dysplasia, Lowry Type	Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati...	ORPHA:166016
Familial Scheuermann Disease	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3135
Cole-Carpenter Syndrome	Recurrent fractures, Kyphosis, Short stature, Micrognathia, Scoliosis, Delayed eruption of teeth,...	ORPHA:2050
Hyperbilirubinemia, Shunt, Primary	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid...	OMIM:237800
Majeed Syndrome	Anemia of inadequate production, Decreased mean corpuscular volume, Osteomyelitis, Flexion contra...	OMIM:609628
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities, Microceph...	OMIM:606612
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Torticollis, Cleft palate, Arthrogryposis multiplex congenita, Natal tooth, Abnormal mandible mor...	OMIM:217150
Coffin-Siris Syndrome 10	Wide mouth, Microcephaly, Persistence of primary teeth, Clinodactyly	OMIM:618506
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Abnormality of finger, Large iliac wing, Malar flattening, Delayed cranial suture closure, Microc...	ORPHA:2511
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Short stature, Congenital bilateral hip dislocation, Small for gestational age	ORPHA:85288
Facioscapulohumeral Muscular Dystrophy 2, Digenic	Scapulohumeral muscular dystrophy, Scapular winging, Pelvic girdle muscle weakness, Foot dorsifle...	OMIM:158901
Acrodysostosis 1 With Or Without Hormone Resistance	Cone-shaped epiphyses of the phalanges of the hand, Mild postnatal growth retardation, Calvarial ...	OMIM:101800
Anemia, Sideroblastic, 1	Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ...	OMIM:300751
Otopalatodigital Syndrome Type 2	Cleft palate, Downslanted palpebral fissures, Pulmonary hypoplasia, Bowing of the long bones, Car...	ORPHA:90652
Chime Syndrome	Supernumerary tooth, Hypodontia, Cleft palate, Aplasia/Hypoplasia of the phalanges of the toes, A...	ORPHA:3474
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Wide anterior fontanel, Narrow greater sciatic notch, Postaxial polydactyly, Preaxial polydactyly...	OMIM:617925
Orofaciodigital Syndrome Ix	High palate, Accessory oral frenulum, Cleft palate, Short tibia, Microcephaly, Abnormality of the...	OMIM:258865
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Abnormal abdomen ...	OMIM:241530
Acromesomelic Dysplasia 2C	Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr...	OMIM:201250
Infantile Myofibromatosis	Neoplasm of the pancreas, Bone cyst, Neoplasm of the lung, Gingival fibromatosis, Osteolysis, Hyp...	ORPHA:2591
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Minicore Myopathy With External Ophthalmoplegia	High palate, Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter,...	OMIM:255320
Autoimmune Hypoparathyroidism	Hypocalcemia, Increased bone mineral density, Autoimmune hypoparathyroidism, Hypocalcemic tetany,...	ORPHA:36913
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Jaundice	OMIM:613839
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me...	ORPHA:34515
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Granulocytopenia, Cleft palate, Sparse eyebrow, Short stature, Micrognathia, Bifid uvula, Macrocy...	OMIM:606164
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Kniest Dysplasia	Flexion contracture of finger, Cleft palate, Short neck, Platyspondyly, Disproportionate short-tr...	ORPHA:485
Hypophosphatasia, Adult	Recurrent fractures, Premature loss of primary teeth, Osteomalacia, Premature loss of permanent t...	OMIM:146300
Fibrous Dysplasia Of Bone	Abnormality of femur morphology, Ovarian cyst, Abnormality of the humerus, Thin bony cortex, Abno...	ORPHA:249
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Kyphosis, Tibial bowing, Dentinogenesis imperfecta, Disproportionate short-l...	OMIM:259420
Combined Oxidative Phosphorylation Deficiency 18	Intrauterine growth retardation, Macrocytic anemia	OMIM:615578
Immunodeficiency 64	Increased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Cervical lymphade...	OMIM:618534
Elsahy-Waters Syndrome	High palate, Dental malocclusion, Cervical C2/C3 vertebral fusion, Supernumerary tooth, Malar fla...	OMIM:211380
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Hepatomegaly, Absent isohemagglutinin level, Splenomegaly, ...	OMIM:615559
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Cone-shaped epiphyses of the toes, Macrocephaly, Cone-shaped epiphyses of the 4th toe, Cone-shape...	ORPHA:397973
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Muscular dystrophy, Skeletal muscle atrophy, Flexion contracture	OMIM:613723
Progressive Pseudorheumatoid Dysplasia	Joint stiffness, Kyphoscoliosis, Coxa vara, Joint contracture of the hand, Enlarged metacarpophal...	OMIM:208230
Ring Chromosome 10 Syndrome	Hypocalcemia, Thin vermilion border, Micrognathia, Cachexia, Long philtrum, Tapered finger, Downs...	ORPHA:1438
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	High palate, Hypertrichosis, Short stature, Hepatosplenomegaly, Hypothyroidism, Deep philtrum, Mi...	OMIM:619750
Rhizomelic Syndrome, Urbach Type	High palate, Kyphosis, Abnormality of the tongue, Short distal phalanx of finger, Cleft palate, S...	ORPHA:3098
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Muscular dystrophy, Talipes equinovarus, Flexion contracture, Skeletal muscle hypertrophy	OMIM:611588
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy, Osteolysis	ORPHA:158014
X-Linked Hypophosphatemia	Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo...	ORPHA:89936
Rothmund-Thomson Syndrome Type 2	High palate, Cleft palate, Metaphyseal sclerosis, Abnormality of the dentition, Osteopenia, Spars...	ORPHA:221016
Craniosynostosis And Dental Anomalies	High palate, Dental malocclusion, Narrow palate, Supernumerary tooth, 2-3 toe syndactyly, Coronal...	OMIM:614188
Diamond-Blackfan Anemia 4	Short stature, Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Growth delay, Reticulocytopenia	OMIM:612527
Spinocerebellar Ataxia, Autosomal Recessive 20	High palate, Dental crowding, Relative macrocephaly, Talipes equinovarus, Macroglossia, Long phil...	OMIM:616354
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Talipes equinovarus, Macroglossia, Triangular tongue, Muscular dystrophy, Calf muscle hypertrophy...	OMIM:616827
Pitt-Hopkins Syndrome	Abnormal palate morphology, Wide mouth, Failure to thrive, Growth delay, Tooth malposition, Failu...	ORPHA:2896
Hypodontia-Dysplasia Of Nails Syndrome	Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet...	ORPHA:2228
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Tooth agenesis, Alopecia, Short philtrum, Delayed eruption of teeth, Mandibula...	ORPHA:2325
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor...	OMIM:615513
Acrofacial Dysostosis Syndrome Of Rodriguez	High palate, Overlapping toe, Wide anterior fontanel, Narrow mouth, Talipes equinovarus, Short ti...	OMIM:201170
3M Syndrome	Short neck, Congenital hip dislocation, Delayed eruption of teeth, Hypoplasia of the ulna, Hypopl...	ORPHA:2616
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Microcephaly, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cleft palate	OMIM:615350
Momo Syndrome	High palate, Thick upper lip vermilion, Dental malocclusion, Taurodontia, Abnormal bone ossificat...	ORPHA:2563
Myopathy, Myofibrillar, 2	EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w...	OMIM:608810
48,Xxxy Syndrome	Cleft palate, Abnormal social behavior, Down-sloping shoulders, Delayed eruption of teeth, Cariou...	ORPHA:96263
Formiminoglutamic Aciduria	Megaloblastic anemia, Anemia	ORPHA:51208
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Narrow mouth, Absent thumb, Short femur, Thin vermilion border, Short tibia, Microcephaly, Hypopl...	OMIM:612447
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic...	OMIM:603902
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Premature loss of teeth, Periodontitis, Cone-shaped epiphyses of the phalanges of the hand, Denti...	OMIM:619269
Essential Thrombocythemia	Acute leukemia, Myelofibrosis, Abnormal platelet morphology, Splenomegaly	ORPHA:3318
Orofaciodigital Syndrome Type 10	Retrognathia, Micrognathia, Long philtrum, Cleft soft palate, Short toe, Telecanthus, Oligodactyl...	ORPHA:2756
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Short stature, Thrombocytopenia, Diabetes mellitus

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