Gene: Tnfrsf11a MGI:1314891

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 receptor superfamily, member 11a, NFKB activator

Synonyms:

TRANCE-R, Rank

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 Tnfrsf11a 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 Tnfrsf11a (5 diseases)
Human diseases predicted to be associated with Tnfrsf11a (2089 diseases)

The table below shows human diseases associated to Tnfrsf11a by orthology or direct annotation.

Disease	Matching phenotypes	Source
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Osteopetrosis, Abnormal trabecular bone morphology, Anemia, Femur fra...	OMIM:612301
Dysosteosclerosis	Abnormal dental enamel morphology, Recurrent fractures, Irregular vertebral endplates, Hypoplasti...	ORPHA:1782
Familial Expansile Osteolysis	Premature loss of teeth, Fragile teeth, Thin bony cortex, Pathologic fracture, Osteolysis, Bowing...	OMIM:174810
Paget Disease Of Bone 2, Early-Onset	Sclerosis of skull base, Short femur, Fractures of the long bones, Femoral bowing, Osteolysis, In...	OMIM:602080
Juvenile Paget Disease	Recurrent fractures, Osteoporosis, Bowing of the long bones, Coarse metaphyseal trabecularization...	ORPHA:2801

The table below shows human diseases predicted to be associated to Tnfrsf11a by phenotypic similarity.

Disease	Matching phenotypes	Source
Regional Odontodysplasia	Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D...	ORPHA:83450
Buschke-Ollendorff Syndrome	Joint stiffness, Osteopoikilosis, Flexion contracture	OMIM:166700
Amelogenesis Imperfecta	Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un...	ORPHA:88661
Florid Cemento-Osseous Dysplasia	Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho...	ORPHA:83451
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Osteopetrosis, Autosomal Dominant 1	Mandibular pain, Osteopetrosis, Torus palatinus, Generalized osteosclerosis, Calvarial osteoscler...	OMIM:607634
Failure Of Tooth Eruption, Primary	Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth	OMIM:125350
Osteopetrosis, Autosomal Recessive 2	Chronic rhinitis due to narrow nasal airway, Mandibular osteomyelitis, Osteomyelitis, Persistence...	OMIM:259710
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste...	ORPHA:1879
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Dentin Dysplasia	Abnormality of dental morphology, Increased bone mineral density, Abnormal dental enamel morphology	ORPHA:1653
Osteochondrosis Of The Metatarsal Bone	Joint stiffness, Abnormality of the third metatarsal bone, Sclerosis of foot bone, Thickened cort...	ORPHA:564003
Osteomesopyknosis	Abnormal cortical bone morphology, Increased bone mineral density	ORPHA:2777
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ...	OMIM:612840
Gigantiform Cementoma, Familial	Multiple impacted teeth, Cementoma, Tooth malposition	OMIM:137575
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t...	ORPHA:3416
Osteopetrosis, Autosomal Recessive 4	Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytos...	OMIM:611490
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia, Thrombocytopenia	OMIM:615085
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Curved distal p...	ORPHA:3152
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os...	OMIM:166600
Dentin Dysplasia With Sclerotic Bones	Abnormality of the dentition, Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth	OMIM:125440
Melorheostosis	Joint stiffness, Failure to thrive, Increased bone mineral density, Arthritis, Hyperostosis, Ecto...	ORPHA:2485
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Coxa vara, Osteomyelitis, Hepatomegaly, Increased bone m...	OMIM:259700
Splenogonadal Fusion With Limb Defects And Micrognathia	Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth	OMIM:183300
Ghosal Hematodiaphyseal Dysplasia	Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Abnormality of tibia mo...	ORPHA:1802
Osteosclerosis With Ichthyosis And Fractures	Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi...	OMIM:166740
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum	Eruption failure, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Multiple non-erupting...	OMIM:273050
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo...	ORPHA:2790
Isolated Osteopoikilosis	Joint stiffness, Abnormality of femur morphology, Abnormal bone ossification, Sclerosis of foot b...	ORPHA:166119
Van Buchem Disease	Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density	OMIM:239100
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb...	OMIM:615285
Mueller-Weiss Syndrome	Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Fragmented, irregular ...	ORPHA:566943
Impacted Teeth, Multiple	Multiple impacted teeth, Supernumerary tooth	OMIM:308280
Intermediate Osteopetrosis	Sandwich appearance of vertebral bodies, Dental malocclusion, Cortical sclerosis, Osteomyelitis, ...	ORPHA:210110
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis, Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Erlenmeyer flask de...	OMIM:611497
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
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
Eiken Syndrome	Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir...	ORPHA:79106
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Ribbing Disease	Diaphyseal sclerosis	OMIM:601477
Dysplastic Cortical Hyperostosis	Increased bone mineral density, Splenomegaly, Abnormality of limb bone morphology, Limb undergrow...	ORPHA:2204
Body Mass Index Quantitative Trait Locus 20	Obesity, Increased bone mineral density	OMIM:618406
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u...	ORPHA:85188
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Rutherfurd Syndrome	Delayed eruption of primary teeth, Failure of eruption of permanent teeth	OMIM:180900
Osteosclerotic Metaphyseal Dysplasia	Metaphyseal dysplasia, Clavicular sclerosis	OMIM:615198
Osteopetrosis, Autosomal Recessive 3	Dental malocclusion, Diaphyseal sclerosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatospl...	OMIM:259730
Osteopenia And Sparse Hair	Osteopenia, Joint laxity	OMIM:259690
Osteoglosphonic Dysplasia	Tooth agenesis, Abnormal bone ossification, Craniosynostosis, Micrognathia, Scoliosis, Abnormal f...	ORPHA:2645
Immunodeficiency 13	Lymphopenia, Recurrent upper respiratory tract infections, B lymphocytopenia, T lymphocytopenia, ...	OMIM:615518
Pyle Disease	Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios...	OMIM:265900
Mazabraud Syndrome	Recurrent fractures, Fibrous dysplasia of the bones	ORPHA:57782
Flynn-Aird Syndrome	Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic...	OMIM:136300
Fetal Cytomegalovirus Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:294
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia	ORPHA:46532
Eiken Syndrome	Short philtrum, Multiple unerupted teeth, Thick lower lip vermilion, Eruption failure, Long hallu...	OMIM:600002
Osteopathia Striata-Cranial Sclerosis Syndrome	Large iliac wing, High, narrow palate, Cleft palate, Increased bone mineral density, Retrognathia...	ORPHA:2780
Prader-Willi Habitus, Osteopenia, And Camptodactyly	Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly, Enlarged epiphyses, Obesity	OMIM:264010
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal...	ORPHA:2114
Craniometaphyseal Dysplasia	Osteopetrosis, Depressed nasal bridge, Wide nasal bridge, Abnormal metaphysis morphology, Craniof...	ORPHA:1522
Hypertrichosis Lanuginosa Congenita	Gingival overgrowth, Generalized hirsutism, Thick eyebrow, Abnormality of the dentition, Delayed ...	ORPHA:2222
Endosteal Hyperostosis, Autosomal Dominant	Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ...	OMIM:144750
Dentinogenesis Imperfecta	Persistence of primary teeth, Fragile teeth, Joint hypermobility, Generalized hypoplasia of denta...	ORPHA:49042
Osteopetrosis, Autosomal Recessive 5	Gingival overgrowth, Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Ex...	OMIM:259720
Gnathodiaphyseal Dysplasia	Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Bowing of the long bones, Thickened co...	ORPHA:53697
Ghosal Hematodiaphyseal Dysplasia	Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density, Leukopenia, Diaphy...	OMIM:231095
Lethal Recessive Chondrodysplasia	Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbow metaphyses, Short long bone	ORPHA:1423
Otopalatodigital Syndrome, Type I	Cleft palate, Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Broad distal phalanx of...	OMIM:311300
Osteopetrosis And Infantile Neuroaxonal Dystrophy	Osteopetrosis	OMIM:600329
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Anemia, Lymp...	ORPHA:37748
Distal Osteosclerosis	Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis	OMIM:126250
Peroxisome Biogenesis Disorder 10A (Zellweger)	High palate, Hepatomegaly, Micrognathia, Prominent nose, Epiphyseal stippling	OMIM:614882
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a...	ORPHA:90650
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Bulbous nose, Kyphosis, Clinodactyly of the 5th finger, Tooth malposition, D...	ORPHA:2769
Brachyolmia Type 1, Hobaek Type	Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop...	OMIM:271530
Spondyloepiphyseal Dysplasia Tarda	Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Arthralgia ...	ORPHA:93284
Fgfr2-Related Bent Bone Dysplasia	Incomplete ossification of pubis, Gingival overgrowth, Short clavicles, Bowing of the legs, Extra...	ORPHA:313855
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min...	OMIM:617974
Metaphyseal Chondrodysplasia, Spahr Type	Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Short lower limbs, Abnormal epip...	ORPHA:2501
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Narrow mouth, Clinodactyly of the 5th finger, Reduced bone mineral density, Thin vermilion border...	ORPHA:2370
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr...	ORPHA:2972
Oligodontia	Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg...	ORPHA:99798
Beta-Thalassemia Intermedia	Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,...	ORPHA:231222
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615269
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	High palate, Slender finger, Cleft palate, Depressed nasal bridge, Short neck, Platyspondyly, Ani...	ORPHA:163649
Chondrodysplasia, Blomstrand Type	Advanced ossification of carpal bones, Flared metaphysis, Micromelia, Generalized osteosclerosis,...	OMIM:215045
Otodental Dysplasia	Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ...	OMIM:166750
Axial Osteomalacia	Osteomalacia, Increased bone mineral density	OMIM:109130
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul...	OMIM:600081
Beta-Thalassemia Major	Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Depressed nasal...	ORPHA:231214
Immunodeficiency 32A	Lymphadenopathy	OMIM:614893
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2027
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Cortical sclerosis, Diaphyseal sclerosis, Depressed nasal bridge, Cran...	OMIM:122860
Fused Mandibular Incisors	Abnormality of the dentition, Advanced eruption of teeth	ORPHA:2287
Dominant Beta-Thalassemia	Decreased mean corpuscular volume, Depressed nasal bridge, Anisocytosis, Abnormality of the denti...	ORPHA:231226
Osteoglophonic Dysplasia	High palate, Broad phalanx, Craniosynostosis, Depressed nasal bridge, Short neck, Platyspondyly, ...	OMIM:166250
Desmosterolosis	Narrow mouth, Increased bone mineral density, Cleft palate, Splenomegaly, Retrognathia, Micrognat...	ORPHA:35107
Pycnodysostosis	Narrow palate, Persistence of primary teeth, Hypodontia, Increased bone mineral density, Spondylo...	OMIM:265800
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Short philtrum, Platyspondyly, Cone-shaped epiphysis, Delayed eruption...	ORPHA:71267
Pulmonary Nodular Lymphoid Hyperplasia	Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis	ORPHA:60026
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis, Hepatomegaly, Splenomegaly	OMIM:618541
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod...	OMIM:601376
Pycnodysostosis	High palate, Abnormality of the dentition, Carious teeth, Hypoplasia of the maxilla, Spondylolist...	ORPHA:763
Diamond-Blackfan Anemia 19	Steroid-responsive anemia, Anemia, Erythroid hypoplasia	OMIM:618312
Osteogenesis Imperfecta, Type Xiii	Dislocated radial head, Decreased body weight, Increased bone mineral density, Arachnodactyly, Os...	OMIM:614856
Albers-Schönberg Osteopetrosis	Short distal phalanx of finger, Abnormal leukocyte morphology, Mandibular osteomyelitis, Osteomye...	ORPHA:53
Rhizomelic Chondrodysplasia Punctata, Type 3	Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling	OMIM:600121
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari...	OMIM:204700
Gingival Fibromatosis-Hypertrichosis Syndrome	Gingival overgrowth, Hirsutism, Thick eyebrow, Generalized hirsutism, Abnormality of the dentitio...	ORPHA:2026
Trisomy 9P	Kyphosis, Clinodactyly of the 5th finger, Abnormal nasal morphology, Impacted tooth, Short neck, ...	ORPHA:236
Fibromatosis, Gingival, With Distinctive Facies	High palate, Persistence of primary teeth, Thick eyebrow, Everted lower lip vermilion, Gingival f...	OMIM:228560
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational...	ORPHA:50811
Autosomal Recessive Malignant Osteopetrosis	Recurrent fractures, Hepatomegaly, Splenomegaly, Craniosynostosis, Osteopetrosis, Reduced bone mi...	ORPHA:667
Diastrophic Dysplasia	Joint stiffness, Kyphosis, Increased bone mineral density, Cleft palate, Depressed nasal bridge, ...	ORPHA:628
Ectodermal Dysplasia With Adrenal Cyst	Breast hypoplasia, Delayed eruption of teeth, Hypohidrosis, Hypoplastic nipples	OMIM:129550
Tricho-Dento-Osseous Syndrome	Taurodontia, Increased bone mineral density, Abnormal hair quantity, Periapical tooth abscess, Mi...	ORPHA:3352
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormality of the lymph nodes	OMIM:136580
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ...	ORPHA:1028
Dysostosis, Stanescu Type	Abnormality of the dentition, Short neck, Carious teeth, Abnormal epiphysis morphology, Hypoplasi...	ORPHA:1798
Hypophosphatemic Bone Disease	Bowing of the legs, Osteomalacia, Rickets	OMIM:146350
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Abnormal bone ossification, Genu varum, Bowing of the long bones, Coarse metaphyseal trabeculariz...	ORPHA:1952
Hypercholanemia, Familial 1	Failure to thrive, Rickets	OMIM:607748
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Osteopetrosis, Micrognathia	OMIM:617306
Osteogenesis Imperfecta, Type Xii	High palate, Narrow mouth, Malar flattening, Depressed nasal bridge, Micrognathia, Scoliosis, Del...	OMIM:613849
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Osteopetrosis, Abnormal trabecular bone morphology, Anemia, Femur fra...	OMIM:612301
Cardiospondylocarpofacial Syndrome	High, narrow palate, Synostosis of carpal bones, Tooth malposition, Failure of eruption of perman...	ORPHA:3238
Hypodontia-Dysplasia Of Nails Syndrome	Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet...	ORPHA:2228
Neutrophilia, Hereditary	Hepatosplenomegaly, Neutrophilia	OMIM:162830
Hall-Riggs Mental Retardation Syndrome	Irregular vertebral endplates, U-Shaped upper lip vermilion, Kyphosis, Metaphyseal dysplasia, Hyp...	OMIM:234250
Gaucher Disease Type 1	Kyphosis, Hepatomegaly, Increased bone mineral density, Splenomegaly, Cirrhosis, Leukopenia, Oste...	ORPHA:77259
Primary Myelofibrosis	Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm...	ORPHA:824
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Gingival Fibromatosis-Facial Dysmorphism Syndrome	High palate, Gingival overgrowth, Thick eyebrow, Everted lower lip vermilion, Delayed eruption of...	ORPHA:2025
Angioosteohypotrophic Syndrome	Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abnormal trabecular bone morphol...	ORPHA:75508
Mu-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Abnormal B cell count, Osteoporosis, Osteolysis, Anemia, Lymphadenopathy	ORPHA:100024
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Arthrogryposis multiplex congenita, Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Hemoglobin D Disease	Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp...	ORPHA:90039
Congenital Disorder Of Glycosylation, Type Iik	Epiphyseal dysplasia, Kyphoscoliosis, Metaphyseal dysplasia, Hepatomegaly, Malar flattening, Elev...	OMIM:614727
17Q21.31 Microduplication Syndrome	High palate, Clinodactyly of the 5th finger, Malar flattening, Abnormality of the dentition, Shor...	ORPHA:217340
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	High palate, Depressed nasal bridge, Osteopenia, Platyspondyly, Delayed eruption of teeth, Tapere...	OMIM:612350
Amelogenesis Imperfecta, Type Ij	Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta	OMIM:617297
Aredyld Syndrome	Narrow mouth, Craniofacial hyperostosis, Hepatomegaly, Splenomegaly, Abnormal nasal morphology, S...	ORPHA:1133
Immunodeficiency 76	Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent bronchiolitis, Lymphad...	OMIM:619164
Marbach-Rustad Progeroid Syndrome	Eruption failure, Narrow mouth, Convex nasal ridge, Hypodontia, Short clavicles, Reduced bone min...	OMIM:619322
Alpha-Mannosidosis	Dental malocclusion, Gingival overgrowth, Narrow palate, Hepatomegaly, Kyphosis, Macroglossia, Sp...	ORPHA:61
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Anemia, Thromb...	ORPHA:3319
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Amelogenesis imperfecta, Carious teeth	OMIM:615887
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Frank-Ter Haar Syndrome	Wide mouth, Gingival overgrowth, Premature loss of teeth, Joint stiffness, Kyphosis, Beaking of v...	ORPHA:137834
Acromesomelic Dysplasia, Maroteaux Type	Joint stiffness, Kyphosis, Beaking of vertebral bodies, Depressed nasal bridge, Scoliosis, Abnorm...	ORPHA:40
Lenz-Majewski Hyperostotic Dwarfism	Wide mouth, Elbow ankylosis, Cleft palate, Symphalangism affecting the phalanges of the hand, Abn...	ORPHA:2658
Winchester Syndrome	Broad metacarpals, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteo...	OMIM:277950
Weismann-Netter Syndrome	Kyphosis, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral b...	OMIM:112350
Odontochondrodysplasia	Dentinogenesis imperfecta, Retrognathia, Depressed nasal bridge, Cone-shaped epiphysis, Platyspon...	ORPHA:166272
Buschke-Ollendorff Syndrome	Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Cutaneous finger syn...	ORPHA:1306
Spondyloepimetaphyseal Dysplasia, Shohat Type	Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Hepatomegaly, Narrow greate...	OMIM:602557
Acromicric Dysplasia	Joint stiffness, Bulbous nose, Narrow mouth, Abnormality of femur morphology, Fifth metacarpal wi...	ORPHA:969
Cherubism	Alveolar ridge overgrowth, Dental malocclusion, Narrow palate, Submandibular lymph node enlargeme...	OMIM:118400
Greenberg Dysplasia	Abnormal leukocyte morphology, Abnormal bone ossification, Anterior rib punctate calcifications, ...	ORPHA:1426
Osteopetrosis With Renal Tubular Acidosis	High palate, Recurrent fractures, Narrow mouth, Persistence of primary teeth, Tooth malposition, ...	ORPHA:2785
Dentin Dysplasia, Type I	Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ...	OMIM:125400
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	High palate, Recurrent fractures, Persistence of primary teeth, Craniosynostosis, Osteopenia, Eos...	OMIM:147060
Parastremmatic Dwarfism	Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing of the long bones	OMIM:168400
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Cleft palate, Micrognathia, Short neck, Abnormal vertebral morphology, Short nose, Anteverted nar...	ORPHA:2015
Spondylocarpotarsal Synostosis Syndrome	Cleft palate, Broad nasal tip, Short neck, Short nose, Block vertebrae, Vertebral segmentation de...	OMIM:272460
Osteoporosis	Osteoporosis	OMIM:166710
Neutropenia, Chronic Familial	Premature loss of teeth, Periodontitis, Gingivitis, Neutropenia, Clubbing of fingers, Clubbing	OMIM:162700
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Oral ulcer, Lymphadenopathy	OMIM:608971
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Kyphosis, Platyspondyly, Metaphyseal widening	OMIM:618476
Epiphyseal Chondrodysplasia, Miura Type	Epiphyseal dysplasia, Long hallux, Arachnodactyly, Osteopenia, Finger clinodactyly, Broad hallux	OMIM:615923
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	High palate, Kyphosis, Eruption failure, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Abno...	ORPHA:476126
Gnathodiaphyseal Dysplasia	Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, Increased susceptibility to fractures, ...	OMIM:166260
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe...	OMIM:241530
Metatropic Dysplasia	Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Platyspondyly, Hyperplasia ...	OMIM:156530
Majeed Syndrome	Metaphyseal irregularity, Failure to thrive, Osteomyelitis, Increased bone mineral density, Flexi...	ORPHA:77297
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Mitochondrial Myopathy And Sideroblastic Anemia	High palate, Kyphosis, Micrognathia, Long philtrum, Scoliosis, Short nose, Anemia	ORPHA:2598
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hypodontia, Short 1st metacarpal, Delayed eruption of teeth, Hip osteoarthritis, Short middle pha...	ORPHA:63442
X-Linked Hypohidrotic Ectodermal Dysplasia	Sparse hair, Everted lower lip vermilion, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, De...	ORPHA:181
Dysosteosclerosis	Abnormal dental enamel morphology, Recurrent fractures, Irregular vertebral endplates, Hypoplasti...	ORPHA:1782
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
Proteus Syndrome	Lymphangioma, Splenomegaly, Calvarial hyperostosis, Depressed nasal bridge, Thin bony cortex, Ope...	OMIM:176920
Pseudoachondroplasia	Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg...	ORPHA:750
Hypophosphatemic Rickets, X-Linked Recessive	Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe...	OMIM:300554
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Increased bone mineral density, Osteopenia, Broad femoral neck, Thin bony cortex, Short tubular b...	ORPHA:85184
Opsismodysplasia	Joint stiffness, Hypoplastic vertebral bodies, Hepatomegaly, Abnormally ossified vertebrae, Splen...	ORPHA:2746
Maxillonasal Dysplasia, Binder Type	Short distal phalanx of finger, Dental malocclusion, Vertebral clefting, Depressed nasal bridge, ...	OMIM:155050
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate, Craniosynostosis	OMIM:600252
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Sclerosis of skull base, Kyphosis, Hyperextensibility of the finger joints, Depr...	OMIM:313420
Acrocephalopolydactyly	Depressed nasal ridge, Hepatosplenomegaly, Short neck, Brachydactyly, Short nose, Short long bone	ORPHA:221054
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Splenomegaly, Erlenmeyer flask deformity of the femurs, Osteopenia, Anemia, Thrombo...	OMIM:610539
Codas Syndrome	Coronal cleft vertebrae, Short metacarpal, Depressed nasal bridge, Congenital hip dislocation, Sc...	ORPHA:1458
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Ri...	OMIM:146300
Maxillonasal Dysplasia	Short distal phalanx of finger, Tooth agenesis, Depressed nasal ridge, Cleft palate, Open bite, D...	ORPHA:1248
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Depressed nasal bridge, Short 1st metacarpal, Short neck, Pla...	OMIM:251450
Weismann-Netter Syndrome	Kyphosis, Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal h...	ORPHA:3344
Ciliary Dyskinesia, Primary, 1	Chronic rhinitis, Anosmia, Chronic sinusitis, Recurrent bronchitis, Asplenia, Absent outer dynein...	OMIM:244400
Odontochondrodysplasia 1	Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Delayed eruption of teeth, Sma...	OMIM:184260
Dysosteosclerosis	High palate, Short sternum, Osteopenia, Platyspondyly, Delayed eruption of teeth, Sclerotic scapu...	OMIM:224300
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Osteomalacia, Rickets	OMIM:193100
Hereditary Spherocytosis	Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ...	ORPHA:822
Kimura Disease	Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Abnormal salivary gland morphology	ORPHA:482
Hemoglobin H Disease	Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h...	ORPHA:444463
Acrodysostosis	Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped epiphysis, D...	ORPHA:950
Immunodeficiency 75	Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia...	OMIM:619126
Metaphyseal Chondrodysplasia, Schmid Type	Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular...	ORPHA:174
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Tooth agenesis, Narrow palate, Cryptorchidism, Micrognathia, Multiple unerupted teeth, Abnormal p...	ORPHA:2063
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul...	OMIM:264700
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, C...	OMIM:612714
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Tyrosinemia Type 1	Rickets of the lower limbs, Splenomegaly	ORPHA:882
Roifman Syndrome	Epiphyseal dysplasia, Short toe, Clinodactyly of the 5th finger, Hip contracture, Delayed proxima...	ORPHA:353298
Gapo Syndrome	Eruption failure, Wide anterior fontanel, Hepatomegaly, High, narrow palate, Depressed nasal brid...	OMIM:230740
Pseudopseudohypoparathyroidism	Depressed nasal bridge, Short neck, Brachydactyly, Osteoporosis, Delayed eruption of teeth, Ename...	OMIM:612463
Hypophosphatemic Rickets, X-Linked Dominant	Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing of the legs, Trapezoida...	OMIM:307800
Metatropic Dysplasia	Joint stiffness, Kyphosis, Halberd-shaped pelvis, Coarse metaphyseal trabecularization, Clinodact...	ORPHA:2635
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Tooth agenesis, Alopecia, Short philtrum, Delayed eruption of teeth, Mandibula...	ORPHA:2325
Short Stature, Dauber-Argente Type	Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Delayed eru...	OMIM:619489
Spondyloepimetaphyseal Dysplasia With Hypotrichosis	Delayed epiphyseal ossification, Decreased hip abduction, Proximal humeral metaphyseal irregulari...	OMIM:183849
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Abnormality of the gallbladder, Abnormality of the nose, Biliary tra...	ORPHA:2869
Roifman Syndrome	Hip contracture, Short toe, Clinodactyly of the 5th finger, Hepatomegaly, Splenomegaly, Eosinophi...	OMIM:616651
Primary Ciliary Dyskinesia	Chronic rhinitis, Nasal congestion, Chronic sinusitis, Polysplenia, Nasal polyposis, Asplenia, Cl...	ORPHA:244
Immunodeficiency, Common Variable, 1	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen...	OMIM:607594
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia	OMIM:618987
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Epidermolysis Bullosa, Junctional 1A, Intermediate	Oral mucosal blisters, Hypodontia, Patchy alopecia, Camptodactyly of finger, Carious teeth, Ename...	OMIM:226650
Autosomal Recessive Hypophosphatemic Rickets	Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Tibial bowing, Coxa vara,...	ORPHA:289176
Osteopetrosis, Autosomal Dominant 3	Premature loss of teeth, Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopenia, Gingivitis,...	OMIM:618107
Mental Retardation, X-Linked 91	High palate, Small hand, Short 5th finger, Macrodontia, Short nose, Short foot, Clinodactyly	OMIM:300577
Disorder Of Bile Acid Synthesis	Rickets	ORPHA:79168
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Glycoprotein Storage Disease	Gout, Splenomegaly	OMIM:232900
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair, Advanced eruption of teeth	ORPHA:2266
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Sinusitis, Lymphopenia, Recurrent upper respiratory tract infections, B lymphocytopenia, Absence ...	ORPHA:277
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Malar flattening, Depressed nasal ridge, Short tibia, Micromelia, Short 3rd metacarpal, Limb unde...	OMIM:118651
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Myelofibrosis, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia,...	OMIM:301078
Taurodontism, Microdontia, And Dens Invaginatus	Dens in dente, Taurodontia, Microdontia, Pulp calcification	OMIM:313490
Beemer-Ertbruggen Syndrome	Bulbous nose, Increased bone mineral density, Micrognathia, Deep philtrum, Thrombocytopenia, Wide...	ORPHA:1237
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Hepatic failure, Extramedullary hematopoiesis, Cholestasis, E...	ORPHA:79303
Hypocalcemic Vitamin D-Resistant Rickets	Recurrent fractures, Bone cyst, Abnormal hip bone morphology, Osteomalacia, Genu varum, Abnormal ...	ORPHA:93160
Immunodeficiency 105	Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, Absence of lymph node germinal center, T lymp...	OMIM:619924
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic...	OMIM:603902
Hemifacial Atrophy, Progressive	Dental malocclusion, Patchy alopecia, Short mandibular rami, Poliosis, Delayed eruption of teeth,...	OMIM:141300
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Increased intervertebral space, Depressed nasal bridge, Metaphyseal ...	OMIM:618961
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Craniometaphyseal Dysplasia, Autosomal Recessive	Metaphyseal dysplasia, Bony paranasal bossing, Patchy sclerosis of finger phalanx, Flared metaphy...	OMIM:218400
Premature Aging Syndrome, Penttinen Type	Thin vermilion border, Micrognathia, Osteopenia, Narrow nose, Delayed eruption of teeth, Scoliosi...	OMIM:601812
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep...	OMIM:615559
Cernunnos-Xlf Deficiency	Bulbous nose, Lymphopenia, Convex nasal ridge, B lymphocytopenia, T lymphocytopenia, Anemia, Thro...	ORPHA:169079
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Cleft Lip/Palate	Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala...	ORPHA:199306
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Hepatomegaly, Scoliosis, Macrovesicular hepatic steatosis, Osteoporosis	OMIM:618234
Camurati-Engelmann Disease	Sclerosis of skull base, Cortical thickening of long bone diaphyses, Diaphyseal sclerosis, Increa...	OMIM:131300
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology	OMIM:612529
Cleidocranial Dysplasia	Cleft palate, Depressed nasal bridge, Abnormality of the dentition, Down-sloping shoulders, Delay...	ORPHA:1452
Cleidocranial Dysplasia 1	High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Depressed nasal br...	OMIM:119600
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Wide nose, Short nose, Long philtrum	OMIM:125700
Brachydactyly, Type E1	Short clavicles, Brachydactyly, Type E brachydactyly, Multiple impacted teeth, Short metatarsal, ...	OMIM:113300
Otodental Syndrome	Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn...	ORPHA:2791
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Bulbous nose, Depressed nasal bridge, Abnormality of the dentition, Osteopenia, Platyspondyly, Bi...	OMIM:271510
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormal hip bone morphology, Reduced bone mineral density, Foot acroosteolysis, Tapered finger, ...	ORPHA:970
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Recurrent aphthous stoma...	OMIM:150550
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Failure to thrive, Rickets	OMIM:602722
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Dentinogenesis imperfecta, Upper limb undergrowth, Pathologic fracture, Short f...	ORPHA:166277
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Craniometadiaphyseal Dysplasia	High palate, Sclerosis of skull base, Broad long bones, Wide anterior fontanel, Malar flattening,...	OMIM:269300
Paget Disease Of Bone 5, Juvenile-Onset	Recurrent fractures, Failure to thrive, Increased bone mineral density, Osteopenia, Short humerus...	OMIM:239000
Vitamin D-Dependent Rickets, Type 2A	Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul...	OMIM:277440
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox...	OMIM:206000
Cortical Blindness, Retardation, And Postaxial Polydactyly	Short nose, Microretrognathia, Long philtrum	OMIM:218010
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Syndactyly, Po...	OMIM:615631
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa...	OMIM:603552
Chondrodysplasia With Joint Dislocations, Gpapp Type	Narrow mouth, Short toe, Cleft palate, Coronal craniosynostosis, Micrognathia, Brachydactyly, Sho...	OMIM:614078
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Reduced bone mineral density, Interphalangeal joint erosions, Osteopenia, Abnormality of limb bon...	ORPHA:85435
Ck Syndrome	High palate, Kyphosis, Malar flattening, Retrognathia, Micrognathia, Scoliosis, Hyperlordosis, Ab...	OMIM:300831
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Glossoptosis, Elevated circulating aspartate aminotransferase concentration, Jaundi...	OMIM:614876
Mucopolysaccharidosis, Type Ivb	Wide mouth, Pointed proximal second through fifth metacarpals, Hepatomegaly, Platyspondyly, Cario...	OMIM:253010
Aplasia Cutis Congenita	Finger syndactyly, Abnormality of bone mineral density, Toe syndactyly	ORPHA:1114
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Depressed nasal brid...	ORPHA:457395
Immunodeficiency 27A	Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hy...	OMIM:209950
Ramon Syndrome	Generalized hirsutism, Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Osteolysi...	ORPHA:3019
Fibrodysplasia Ossificans Progressiva	Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hallux, Spinal rigidit...	ORPHA:337
Temple-Baraitser Syndrome	High palate, Wide mouth, Depressed nasal bridge, Short phalanx of the thumb, Delayed eruption of ...	ORPHA:420561
Hall-Riggs Syndrome	Abnormal dental enamel morphology, Wide mouth, Joint stiffness, Platyspondyly, Scoliosis, Delayed...	ORPHA:2107
Neonatal Severe Primary Hyperparathyroidism	Recurrent fractures, Hepatomegaly, Abnormal metaphysis morphology, Splenomegaly	ORPHA:417
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Oral ulcer, Lymphadenopathy	OMIM:618852
Dentinogenesis Imperfecta, Shields Type Iii	Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ...	OMIM:125500
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Recurrent upper respiratory tract infections,...	OMIM:613101
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Decreased mean corpuscular volume, Failure to thrive, Hepatosplenomegaly, Hemolytic anemia, Retic...	OMIM:611590
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n...	OMIM:212050
Non-Distal Trisomy 10Q	High palate, Convex nasal ridge, Everted lower lip vermilion, Depressed nasal bridge, Micrognathi...	ORPHA:1695
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Recurrent sinusitis, Decr...	OMIM:300853
Elsahy-Waters Syndrome	High palate, Bulbous nose, Impacted tooth, Delayed eruption of teeth, Hypoplasia of the maxilla, ...	OMIM:211380
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Microdontia, Delayed eruption of teeth, Carious teeth, Coxa magna, Flat capital femor...	OMIM:190350
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen...	OMIM:617514
Brachydactyly, Type B1	Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Cutaneous finger synda...	OMIM:113000
Immunodeficiency 14A, Autosomal Dominant	Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased...	OMIM:615513
Camurati-Engelmann Disease	Abnormality of femur morphology, Hepatomegaly, Abnormality of the humerus, Delayed eruption of te...	ORPHA:1328
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Overlapping toe, Malar flattening, Craniosynostosis, Depressed nasal bridge, Osteopenia, Short ne...	OMIM:616723
X-Linked Hypophosphatemia	Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, En...	ORPHA:89936
Camptodactyly Syndrome, Guadalajara Type 1	High palate, Dental malocclusion, Narrow mouth, Short distal phalanx of finger, Short toe, Open b...	ORPHA:1327
Infantile Sialic Acid Storage Disease	High palate, Metaphyseal irregularity, Gingival overgrowth, Hepatomegaly, Vacuolated lymphocytes,...	OMIM:269920
Cerebrooculofacioskeletal Syndrome 1	Kyphoscoliosis, Coxa valga, Joint contracture of the hand, Flexion contracture, Thin vermilion bo...	OMIM:214150
Pai Syndrome	Cleft palate, Depressed nasal bridge, Bifid uvula, Abnormal oral frenulum morphology, Median clef...	ORPHA:1993
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Micromelia	OMIM:273680
Ollier Disease	Joint stiffness, Lymphangioma, Platyspondyly, Osteolysis, Abnormal cartilage morphology, Multiple...	ORPHA:296
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Immunodeficiency 72 With Autoinflammation	Hepatosplenomegaly, Increased B cell count, Clubbing of fingers, Lymphadenopathy, Increased propo...	OMIM:618982
Spondylometaphyseal Dysplasia, Kozlowski Type	Abnormal humeral metaphysis morphology, Platyspondyly, Premature osteoarthritis, Limb joint contr...	ORPHA:93314
Mucopolysaccharidosis, Type Iva	Wide mouth, Pointed proximal second through fifth metacarpals, Hepatomegaly, Anterior beaking of ...	OMIM:253000
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Bowing of the legs, Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal...	OMIM:112250
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid...	OMIM:133180
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	High palate, Lymphopenia, Persistence of primary teeth, Supernumerary tooth, Talipes equinovarus,...	OMIM:619752
Amelogenesis Imperfecta, Type Ie	Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia	OMIM:301200
Ophthalmomandibulomelic Dysplasia	Lateral humeral condyle aplasia, Camptodactyly of finger, Synostosis of carpal bones, Micromelia,...	ORPHA:2741
Short Stature-Wormian Bones-Dextrocardia Syndrome	High palate, Tooth agenesis, Cryptorchidism, Micrognathia, Camptodactyly of finger, Delayed erupt...	ORPHA:2863
Developmental And Epileptic Encephalopathy 73	Flexion contracture, Scoliosis, Narrow nasal bridge, Short nose, Hip dysplasia	OMIM:618379
Autosomal Dominant Hypophosphatemic Rickets	Bowing of the legs, Osteomalacia, Iron deficiency anemia, Tooth abscess, Rickets	ORPHA:89937
Omenn Syndrome	Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l...	OMIM:603554
Dent Disease 1	Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul...	OMIM:300009
Agammaglobulinemia 8B, Autosomal Recessive	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, Anemia, B Acute Lym...	OMIM:619824
Craniometaphyseal Dysplasia, Autosomal Dominant	Sclerosis of skull base, Tooth malposition, Bony paranasal bossing, Erlenmeyer flask deformity of...	OMIM:123000
Multicentric Osteolysis, Nodulosis, And Arthropathy	Bulbous nose, Osteopenia, Delayed eruption of teeth, Thin bony cortex, C1-C2 subluxation, Thin me...	OMIM:259600
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Cirrhosis, Osteoporosis, Biliary tract abnormality, Elevated hepatic ...	ORPHA:79301
Catifa Syndrome	Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Camptodactyly, Cleft l...	OMIM:618761
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets	OMIM:613388
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia, Sinusitis, Nasal polyposis, Arthritis	ORPHA:183
Teeth Present At Birth	Natal tooth	OMIM:187050
12Q14 Microdeletion Syndrome	Clinodactyly of the 5th finger, Hypodontia, Thin vermilion border, Abnormality of the nares, Micr...	ORPHA:94063
Amelogenesis Imperfecta, Type Iiia	Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion	OMIM:130900
Kerion Celsi	Lymphadenopathy, Recurrent cutaneous abscess formation	ORPHA:499
Indolent Systemic Mastocytosis	Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Osteoporosis, Mastocytosis, Increased ...	ORPHA:98848
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Sparse bone trabeculae, Subperiosteal bone resorption, Tibial bo...	ORPHA:289157
Immunodeficiency 7	Lymphadenopathy, Hypereosinophilia	OMIM:615387
Pseudoachondroplasia	Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma...	OMIM:177170
Hyperbilirubinemia, Shunt, Primary	Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid...	OMIM:237800
Hyperphosphatasia With Mental Retardation Syndrome 6	High palate, Hip contracture, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Shortening of a...	OMIM:616809
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Potocki-Shaffer Syndrome	Broad nasal tip, Depressed nasal tip, Short philtrum, Micrognathia, Decreased skull ossification,...	ORPHA:52022
Immunodeficiency 64	Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ...	OMIM:618534
Lethal Osteosclerotic Bone Dysplasia	Gingival overgrowth, Depressed nasal ridge, Retrognathia, Micrognathia, Short neck, Gingival fibr...	ORPHA:1832
Blomstrand Lethal Chondrodysplasia	Distal shortening of limbs, Metaphyseal cupping, Increased bone mineral density, Malar flattening...	ORPHA:50945
14Q11.2 Microdeletion Syndrome	High palate, Narrow mouth, Toe clinodactyly, Everted lower lip vermilion, Depressed nasal bridge,...	ORPHA:261120
Rhizomelic Dysplasia, Patterson-Lowry Type	Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Abnormal ...	ORPHA:2831
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M...	OMIM:614470
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Nasal polyposis, Oral melanotic macule, Biliary tract abnormality, Iron...	OMIM:175200
Chondrodysplasia Punctata 1, X-Linked Recessive	Short distal phalanx of finger, Depressed nasal bridge, Abnormality of the vertebral column, Shor...	OMIM:302950
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Tooth agenesis, Convex nasal ridge, Micrognathia, Brachydactyly, Mesomelia, Abnormal shoulder mor...	ORPHA:1277
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy, Osteolysis	ORPHA:158014
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly	OMIM:183350
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Osteosclerosis of the base of the skull, Subperiosteal bone formation	OMIM:609993
Peroxisome Biogenesis Disorder 6A (Zellweger)	Decreased liver function, Epiphyseal stippling, Hepatomegaly, Wide nasal bridge	OMIM:614870
Grant Syndrome	Open bite, Abnormality of the glenoid fossa, Micrognathia, Depressed nasal bridge, Joint hyperfle...	ORPHA:2097
Macrocephaly/Autism Syndrome	Lymphopenia, Hepatomegaly, Splenomegaly, Depressed nasal bridge, Long philtrum, Short nose	OMIM:605309
Renal Tubular Acidosis Iii	Osteomalacia, Rickets	OMIM:267200
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Anemia, Hypochromic Microcytic, With Iron Overload 1	Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver	OMIM:206100
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia	OMIM:615234
Frontometaphyseal Dysplasia 1	High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er...	OMIM:305620
Gorham-Stout Disease	Mandibular pain, Abnormality of femur morphology, Abnormality of finger, Lymphangioma, Abnormal b...	ORPHA:73
Fanconi Renotubular Syndrome 3	Bowing of the legs, Rickets	OMIM:615605
Osteogenesis Imperfecta, Type Xiv	Recurrent fractures, Osteopenia, Increased susceptibility to fractures, Femoral bowing	OMIM:615066
Ciliary Dyskinesia With Excessively Long Cilia	Sinusitis, Chronic rhinitis, Abnormal respiratory motile cilium morphology, Recurrent bronchitis,...	OMIM:242680
Intellectual Developmental Disorder, Autosomal Dominant 23	Dental crowding, Kyphosis, Bulbous nose, Postaxial polydactyly, Depressed nasal bridge, Micrognat...	OMIM:615761
Sandhoff Disease	Kyphosis, Hepatomegaly, Splenomegaly	ORPHA:796
Fetal Akinesia Deformation Sequence 4	High palate, Kyphosis, Flexion contracture, Retrognathia, Micrognathia, Short neck, Camptodactyly...	OMIM:618393
Immunodeficiency 102	Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p...	OMIM:301082
Amelogenesis Imperfecta, Type Ic	Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati...	OMIM:204650
Mental Retardation, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Gingival overgrowth, Narrow mouth, Hepatomegaly, Sea-blue histiocytosis, Hypopla...	OMIM:230600
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	High palate, Dental crowding, Overjet, Hepatomegaly, Persistence of primary teeth, Hypodontia, Ev...	OMIM:618342
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse scalp hair, Hypodontia, Sparse eyebrow, Sparse eyelashes, Oligodontia, Natal tooth, Hypopl...	OMIM:601345
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb...	OMIM:619220
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Reduced bone mineral density, Splenomegaly, Cholestasis, Jaundice	ORPHA:172
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked delay in erup...	OMIM:104570
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly	OMIM:206400
Aarskog-Scott Syndrome	Cleft upper lip, Clinodactyly of the 5th finger, Finger syndactyly, Cleft palate, Everted lower l...	ORPHA:915
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Failure to thrive, Rickets, Splenomegaly	OMIM:211600
Lipoid Proteinosis	High palate, Abnormal oral mucosa morphology, Tongue nodules, Microglossia, Thick lower lip vermi...	ORPHA:530
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Gingival overgrowth, Lymphopenia, Leukopenia, Short humerus, Brachydactyly, Delayed eruption of t...	ORPHA:508542
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Lymphadenitis, He...	OMIM:618986
Zimmermann-Laband Syndrome 3	High palate, Kyphosis, Gingival overgrowth, Short distal phalanx of finger, Long hallux, Absent d...	OMIM:618658
Pseudohypoparathyroidism Type 1B	Diaphyseal sclerosis, Increased bone mineral density, Depressed nasal bridge, Short neck, Delayed...	ORPHA:94089
Carpenter Syndrome 1	High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Depressed nasal bridge, Shor...	OMIM:201000
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615270
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Wide mouth, Kyphosis, Everted lower lip vermilion, Short philtrum, Scoliosis, Short nose, Mandibu...	ORPHA:2429
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	High palate, Wide mouth, Dental crowding, Low hanging columella, Long philtrum, Delayed eruption ...	OMIM:618825
Spinocerebellar Ataxia, Autosomal Recessive 20	High palate, Dental crowding, Macroglossia, Long philtrum, Delayed eruption of teeth, Scoliosis, ...	OMIM:616354
Amelogenesis Imperfecta, Type Ih	Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent...	OMIM:616221
Coxoauricular Syndrome	Abnormality of femur morphology, Reduced bone mineral density, Micromelia, Abnormal pelvic girdle...	ORPHA:1508
Mucopolysaccharidosis Type 4	Spinal canal stenosis, Wide mouth, Kyphosis, Reduced bone mineral density, Abnormality of the den...	ORPHA:582
Mesomelic Limb Shortening And Bowing	Bowing of the legs, Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Camptodac...	OMIM:249710
Hypothyroidism, Congenital, Nongoitrous, 6	Anemia, Congenital hip dislocation, Delayed eruption of teeth, Macroglossia	OMIM:614450
Teebi Hypertelorism Syndrome 2	High palate, Wide anterior fontanel, Clinodactyly of the 5th finger, Cleft palate, Everted lower ...	OMIM:619736
Robinow Syndrome, Autosomal Dominant 2	Wide mouth, Triangular mouth, Cleft palate, Depressed nasal bridge, Abnormality of the dentition,...	OMIM:616331
Rothmund-Thomson Syndrome Type 2	High palate, Cleft palate, Metaphyseal sclerosis, Long nose, Abnormality of the dentition, Osteop...	ORPHA:221016
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Malar flattening, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint la...	OMIM:130060
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	High palate, Nasal polyposis, Bifid uvula, Median cleft lip	OMIM:155145
Congenital Disorder Of Glycosylation, Type Il	Wide mouth, Kyphosis, Hepatomegaly, Depressed nasal bridge, Hepatosplenomegaly, Short neck, Long ...	OMIM:608776
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Osteoarthritis, Cone-shaped epiphysis, Brachydactyly...	OMIM:618618
Cyclic Neutropenia	Periodontitis, Sinusitis, Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonit...	ORPHA:2686
Temtamy Preaxial Brachydactyly Syndrome	Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A...	ORPHA:363417
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Short philtrum, Hypohidrosis, Nail dystrophy, Natal tooth, Hypoplastic sweat glands	OMIM:617337
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly	ORPHA:231393
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Abnormal eyebrow morphology, Generalized hirsutism, Hypodontia, Delayed eruption of teeth, Decrea...	ORPHA:1816
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
3M Syndrome	Bulbous nose, Short neck, Congenital hip dislocation, Delayed eruption of teeth, Hypoplasia of th...	ORPHA:2616
Pierpont Syndrome	Short toe, Prominent median palatal raphe, Long upper lip, Everted lower lip vermilion, Thin verm...	OMIM:602342
Shashi-Pena Syndrome	Kyphosis, Retrognathia, Broad nasal tip, Scoliosis, Osteoporosis	OMIM:617190
Familial Scheuermann Disease	Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3135
Caffey Disease	Cortical irregularity, Cortical thickening of long bone diaphyses, Periosteal thickening of long ...	ORPHA:1310
Chromosome 16P13.3 Duplication Syndrome	Bulbous nose, Short toe, Malar flattening, Short phalanx of finger, Tapered finger, Camptodactyly...	OMIM:613458
Marshall-Smith Syndrome	Gingival overgrowth, Craniosynostosis, Retrognathia, Reduced bone mineral density, Scoliosis, Sle...	ORPHA:561
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Overlapping toe, Clinodactyly of the 5th finger, Camptodactyly, Short thumb	OMIM:618453
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	High palate, Irregular tarsal ossification, Cone-shaped epiphyses of the phalanges of the hand, H...	OMIM:226980
Leishmaniasis	Hepatomegaly, Abnormal oral cavity morphology, Rhinitis, Splenomegaly, Leukopenia, Abnormal macro...	ORPHA:507
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Thick upper lip vermilion, Macrocytic anemia, Short nose, Neut...	OMIM:612563
Pitt-Hopkins Syndrome	Abnormal palate morphology, Wide mouth, Tooth malposition, Failure of eruption of permanent teeth...	ORPHA:2896
Shaheen Syndrome	Enamel hypoplasia, Hypohidrosis, Carious teeth	OMIM:615328
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Splenomegaly, Arthritis, Recurrent aphthous stomatitis, Lymphadenopathy	OMIM:611762
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex...	OMIM:602450
Tetrasomy 12P	Thick upper lip vermilion, Sparse hair, Abnormal soft palate morphology, Everted lower lip vermil...	ORPHA:884
Disorder Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Reduced bone mineral density, Thin vermilion border, Short philtrum, Short neck, Spina ...	ORPHA:2983
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Amelogenesis imperfecta, Hypodontia	OMIM:615905
Terminal Osseous Dysplasia	Mesomelic leg shortening, Short toe, Multiple joint contractures, Toe clinodactyly, Malar flatten...	OMIM:300244
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies	High palate, Abnormal abdomen morphology, Anodontia, Dental malocclusion, Narrow palate, Supernum...	OMIM:264475
Acrocraniofacial Dysostosis	Cleft palate, Craniosynostosis, Micrognathia, Short philtrum, Abnormality of the vertebral column...	OMIM:201050
Achondrogenesis	Micrognathia, Short neck, Long philtrum, Abnormality of bone mineral density, Short nose, Antever...	ORPHA:932
Rhizomelic Syndrome, Urbach Type	High palate, Kyphosis, Abnormality of the tongue, Short distal phalanx of finger, Wide anterior f...	ORPHA:3098
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen...	ORPHA:75564
Fibular Hemimelia	Craniosynostosis, Arthralgia of the hip, Thrombocytopenia, Abnormality of fibula morphology, Genu...	ORPHA:93323
Congenital Disorder Of Glycosylation, Type Iig	High palate, Vertebral segmentation defect, Butterfly vertebrae, Cleft palate, Small hand, Left v...	OMIM:611209
Immunodeficiency 33	Delayed eruption of teeth, Conical tooth, Hypodontia	OMIM:300636
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s...	OMIM:619846
Hemoglobin E Disease	Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol...	ORPHA:2133
Otopalatodigital Syndrome Type 2	Cleft palate, Depressed nasal bridge, Short nose, Bowing of the long bones, Carpal synostosis, In...	ORPHA:90652
Ciliary Dyskinesia With Defective Radial Spokes	Chronic rhinitis, Sinusitis, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes	OMIM:242670
Raine Syndrome	High palate, Wide mouth, Cleft palate, Depressed nasal bridge, Short neck, Microdontia, Short nos...	OMIM:259775
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Bulbous nose, Hepatomegaly, Craniosynostosis, Long nose, Depressed nasal bridge, Short nose, Seve...	ORPHA:508533
Simpson-Golabi-Behmel Syndrome, Type 2	High palate, Wide mouth, U-Shaped upper lip vermilion, Cleft palate, Recurrent upper respiratory ...	OMIM:300209
Congenital Atransferrinemia	Anemia, Abnormality of the pancreas, Arthritis	ORPHA:1195
Melnick-Needles Syndrome	Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl...	ORPHA:2484
Beta-Thalassemia	Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Reduced bone mineral density, He...	ORPHA:848
Microcephalic Primordial Dwarfism, Toriello Type	Micrognathia, Short middle phalanx of toe, Enamel hypoplasia, Short proximal phalanx of hallux, S...	OMIM:251190
Spastic Paraplegia 18, Autosomal Recessive	High palate, Kyphosis, Scoliosis	OMIM:611225
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Achondrogenesis Type 1A	Recurrent fractures, Micrognathia, Short neck, Long philtrum, Short nose, Short foot, Anteverted ...	ORPHA:93299
Rothmund-Thomson Syndrome	Abnormality of the dentition, Osteopenia, Aplastic anemia, Delayed eruption of teeth, Microdontia...	ORPHA:2909
Stickler Syndrome Type 1	Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis mo...	ORPHA:90653
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Micrognathia, Unilambdoid synostosis, Long philtrum, Scoliosis, Short nose, Clinodactyly, Antever...	OMIM:618577
Distal Trisomy 18Q	High palate, Clinodactyly of the 5th finger, Arachnodactyly, Micrognathia, Camptodactyly of finge...	ORPHA:1716
Urban-Rogers-Meyer Syndrome	Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Micrognathia, Camptodactyly of fin...	ORPHA:3409
Singleton-Merten Syndrome 1	Expanded metacarpals with widened medullary cavities, Osteopenia, Carious teeth, Osteolytic defec...	OMIM:182250
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Bowing of the legs, Hypophosphatemic rickets, Reduced bone mineral density, Osteomalacia, Patholo...	ORPHA:157215
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Narrow mouth, Depressed nasal ridge, Splenomegaly, Thin vermilion border, Micrognathia, Sandal ga...	ORPHA:1046
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Recurren...	OMIM:618849
Shwachman-Diamond Syndrome	Exocrine pancreatic insufficiency, Hepatomegaly, Osteopenia, Aplastic anemia, Delayed eruption of...	ORPHA:811
Craniolenticulosutural Dysplasia	High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, High iliac wing, Long ph...	ORPHA:50814
Sponastrime Dysplasia	Depressed nasal bridge, Microdontia, Hypoplasia of the nasal bone, Genu valgum, Rhizomelia, Hip s...	ORPHA:93357
Odontomicronychial Dysplasia	Abnormality of the dentition, Premature loss of primary teeth, Premature eruption of permanent te...	ORPHA:1811
Osteogenesis Imperfecta, Type Xxii	Recurrent fractures, Reduced bone mineral density, Slender long bone, Thin bony cortex, Pseudoart...	OMIM:619795
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Narrow mouth, Abnormal oral cavity morphology, Depressed nasal ridge, Short nose, Anteverted nares	ORPHA:1355
Ring Chromosome 8 Syndrome	Anteverted nares, Short nose, Abnormal palate morphology, Deviation of finger	ORPHA:1450
Felty Syndrome	Sinusitis, Hepatomegaly, Rhinitis, Splenomegaly, Abnormal lymphocyte morphology, Thrombocytopenia...	ORPHA:47612
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	High palate, Retrognathia, Depressed nasal bridge, Short nose, Anteverted nares	OMIM:614069
Ciliary Dyskinesia, Primary, 35	Chronic rhinitis, Chronic sinusitis, Nasal polyposis	OMIM:617092
Bare Lymphocyte Syndrome, Type I	Recurrent bronchitis, Chronic sinusitis, Nasal polyposis	OMIM:604571
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te...	OMIM:618386
Clark-Baraitser syndrome	Kyphosis, Maxillary lateral incisor microdontia, Prominent median palatal raphe, Broad nasal tip,...	OMIM:300602
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly	OMIM:607685
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count	OMIM:618261
Specific Granule Deficiency 2	Tooth malposition, Osteopenia, Brachydactyly, Thrombocytopenia, Sandal gap, Conical tooth, Neutro...	OMIM:617475
Brachydactyly, Type E2	Oligodontia, Delayed eruption of teeth	OMIM:613382
Burkitt Lymphoma	Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Neoplasm ...	ORPHA:543
Pde4D Haploinsufficiency Syndrome	Broad phalanx, Depressed nasal bridge, Short philtrum, Cone-shaped epiphysis, Upper limb undergro...	ORPHA:439822
Pfapa Syndrome	Hepatomegaly, Abnormal oral cavity morphology, Splenomegaly, Arthritis, Recurrent pharyngitis, Ly...	ORPHA:42642
Ciliary Dyskinesia, Primary, 42	Recurrent sinusitis, Chronic rhinitis, Nasal polyposis	OMIM:618695
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Anodontia, Kyphosis, Everted lower lip vermilion, Oligodontia, Scoliosis, Tapered finger, Wide nose	ORPHA:276630
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, T lymphocytopenia	OMIM:233650
Coffin-Lowry Syndrome	High palate, Wide mouth, Depressed nasal bridge, Broad finger, Delayed eruption of teeth, Advance...	ORPHA:192
Babesiosis	Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Recurrent pharyngitis,...	ORPHA:108
Gamma-Heavy Chain Disease	Abnormal palate morphology, Hepatomegaly, Splenomegaly, Rheumatoid arthritis, Autoimmune thromboc...	ORPHA:100026
Chst3-Related Skeletal Dysplasia	Kyphoscoliosis, Flexion contracture, Long philtrum, Delayed eruption of teeth, Scoliosis, Abnorma...	ORPHA:263463
Congenital Disorder Of Glycosylation, Type Iic	Periodontitis, Bulbous nose, Neutrophilia, Brachydactyly, Short foot, Reduction of neutrophil mot...	OMIM:266265
Sialidosis Type 2	Kyphosis, Hepatomegaly, Flexion contracture, Splenomegaly, Osteoporosis, Ascites	ORPHA:87876
Acrocraniofacial Dysostosis	Cleft palate, Craniosynostosis, Short 1st metacarpal, Short philtrum, Advanced eruption of teeth,...	ORPHA:949
Three M Syndrome 2	High palate, Dental malocclusion, Prominent nasal tip, Lumbar hyperlordosis, Malar flattening, De...	OMIM:612921
Vitamin K Antagonist Embryofetopathy	Short distal phalanx of finger, Macroglossia, Depressed nasal bridge, Short neck, Brachydactyly, ...	ORPHA:1914
Autosomal Dominant Hyper-Ige Syndrome	Recurrent fractures, Osteomyelitis, Cleft palate, Craniosynostosis, Abnormality of the dentition,...	ORPHA:2314
Sarcoidosis	Bone cyst, Hepatomegaly, Abnormality of the lymph nodes, Eosinophilia, Leukopenia, Thrombocytopen...	ORPHA:797
Dyssegmental Dysplasia With Glaucoma	Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Malar flattening, Cleft...	OMIM:601561
Ciliary Dyskinesia, Primary, 19	Recurrent sinusitis, Rhinitis, Absent inner and outer dynein arms, Nasal polyposis	OMIM:614935
Aggressive Systemic Mastocytosis	Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Osteoporosis, Throm...	ORPHA:98850
Verheij Syndrome	Hemivertebrae, Short neck, Long philtrum, Scoliosis, Short 5th finger, Short nose, Thin upper lip...	OMIM:615583
Laron Syndrome	Short toe, Tooth agenesis, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Microgna...	ORPHA:633
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple...	OMIM:616860
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616

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