Not currently registered for phenotyping at IMPC

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

Gene Summary

tumor necrosis factor receptor superfamily, member 11a, NFKB activator

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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

Disease Similarity of
Matching phenotypes Source
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Osteosclerotic Metaphyseal Dysplasia
Failure to thrive, Dense metaphyseal bands, Clavicular sclerosis, Metaphyseal dysplasia, Increase... OMIM:615198
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclerosis of the iliac wing, De... OMIM:611497
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Abnormal trabecular bone morphology, Periapical bone loss, Mandibul... ORPHA:83451
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
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Osteopetrosis, Autosomal Dominant 1
Abnormal pelvic girdle bone morphology, Recurrent fractures, Thickened cortex of long bones, Toru... OMIM:607634
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy... ORPHA:3352
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Increased bone mineral density OMIM:265880
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ... ORPHA:1879
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Mandibular osteomyelitis, Carious teeth, Extramedullary hematopoiesis, Cra... OMIM:259710
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormal dental morphology, Increased bone mineral density ORPHA:1653
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o... ORPHA:564003
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... ORPHA:1802
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leuk... OMIM:612840
Gigantiform Cementoma, Familial
Tooth malposition, Cementoma, Multiple impacted teeth OMIM:137575
Osteopetrosis, Autosomal Recessive 4
Sclerotic vertebral endplates, Splenomegaly, Reticulocytosis, Anemia, Osteopetrosis, Thrombocytop... OMIM:611490
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u... ORPHA:3416
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fractures o... OMIM:166600
Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti... ORPHA:3152
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors OMIM:183300
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis OMIM:125440
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... OMIM:166740
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia, Hepatomegaly OMIM:615085
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Sandwich appearance of vertebral bodies, Flared metaphysis, Pathologic fracture, O... OMIM:259700
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Torus palatinus, Generalized osteos... ORPHA:2790
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Gnathodiaphyseal Dysplasia
Broad jaw, Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of lo... ORPHA:53697
Failure to thrive, Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthriti... ORPHA:2485
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis, Abnormal metaphysis morphology ORPHA:1522
Mueller-Weiss Syndrome
Tibiofibular diastasis, Sclerosis of foot bone, Tibial torsion, Abnormality of the os naviculare ... ORPHA:566943
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Pyle Disease
Mandibular prognathia, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persis... OMIM:265900
Intermediate Osteopetrosis
Abnormality of the dentition, Erlenmeyer flask deformity of the femurs, Dental malocclusion, Sand... ORPHA:210110
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,... ORPHA:2204
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density OMIM:241520
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Osteopetrosis, Autosomal Recessive 3
Dental malocclusion, Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Oste... OMIM:259730
Immunodeficiency 13
Recurrent upper respiratory tract infections, Nasal polyposis, Lymphopenia, Decreased CD4:CD8 rat... OMIM:615518
Osteoglosphonic Dysplasia
Choanal atresia, Abnormal form of the vertebral bodies, Tooth agenesis, Anteverted nares, Microgn... ORPHA:2645
Osteopenia And Sparse Hair
Osteopenia, Joint hypermobility OMIM:259690
Mazabraud Syndrome
Recurrent fractures, Fibrous dysplasia of the bones ORPHA:57782
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... ORPHA:75508
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Bifid uvula, High iliac wing, Coarse metaphyseal trabecularization, Delayed ... ORPHA:2780
Eiken Syndrome
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,... OMIM:600002
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Metaphyseal Chondrodysplasia, Spahr Type
Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Reduced bone mineral ... ORPHA:2501
Familial Expansile Osteolysis
Pathologic fracture, Bowing of the long bones, Fragile teeth, Thin bony cortex, Osteolysis, Prema... OMIM:174810
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly, Abnormal bone structure ORPHA:46532
Hip Dysplasia, Beukes Type
Abnormal epiphysis morphology, Broad femoral neck, Abnormality of the epiphysis of the femoral he... ORPHA:2114
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Osteopetrosis, Anemia, Increased bone mineral density OMIM:620366
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Short thumb, Sandal gap, Limitation o... ORPHA:90650
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth... ORPHA:166277
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Cranial hyperostosis, Flared metaphysis, Ascites, Hepatosplenomegal... OMIM:259720
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Hypertrichosis Lanuginosa Congenita
Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth, Thick eyebrow, Gene... ORPHA:2222
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D... OMIM:311300
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Leukopenia, Diaphyseal dysplasia, Thrombocytopenia, Myelofibrosis... OMIM:231095
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, ... ORPHA:1423
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increased bone mine... ORPHA:37748
Peroxisome Biogenesis Disorder 10A (Zellweger)
Prominent nose, Epiphyseal stippling, Micrognathia, Hepatomegaly, High palate OMIM:614882
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Multiple non-erupting ... OMIM:620277
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Depressed nasal ridge, Bifid femur, Tooth malposition, Abnormal form of the ve... ORPHA:2769
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Natal tooth, Extramedulla... ORPHA:313855
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal cortic... ORPHA:970
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Dental maloccl... OMIM:144750
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Micrognathia, Osteopetrosis, Increased bone mineral density OMIM:617306
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... ORPHA:2972
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob... ORPHA:93284
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Delay... OMIM:617974
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal metaphysi... ORPHA:2370
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Abnormal bone ossification, Flattened epiphysis, High palate, Flat acet... ORPHA:163649
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... ORPHA:231222
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Broad phalanx, High palate, Short fo... OMIM:166250
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta, Slender long bone, Bowing of the long bones, Pseudoarthrosis, Thin bon... OMIM:619795
Craniodiaphyseal Dysplasia, Autosomal Dominant
Wide nasal bridge, Craniofacial hyperostosis, Depressed nasal bridge, Mandibular prognathia, Cran... OMIM:122860
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hyperplasia of t... ORPHA:231214
Depressed nasal bridge, Bifid uvula, Abnormality of the nose, Micromelia, Retrognathia, Micrognat... ORPHA:35107
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Dentinogenesis imperfecta, Cone-shaped epiphysis, Delayed eruption of teeth, Promi... ORPHA:71267
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hyperplasia of t... ORPHA:231226
Small hand, Carious teeth, Hypoplastic iliac wing, Hepatosplenomegaly, Micrognathia, Delayed erup... ORPHA:763
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth ORPHA:2027
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... OMIM:114000
Aplastic clavicle, Spondylolysis, Carious teeth, Narrow palate, Prominent nose, Micrognathia, Del... OMIM:265800
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Osteopetrosis, Splenomegaly OMIM:618541
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Metatropic Dysplasia
Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Micromelia, Camptodactyly... ORPHA:2635
Dysostosis, Stanescu Type
Carious teeth, Bowing of the long bones, Short neck, Increased bone mineral density, Hypoplasia o... ORPHA:1798
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Erlenmeyer flask deformity of the femurs, Craniofacial o... OMIM:618476
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Open bite, Micrognathia... ORPHA:2097
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myelofibrosis, Myelop... OMIM:254450
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Hypop... OMIM:252100
Amelo-Onycho-Hypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Fine hair, Tooth agenesis, Ab... ORPHA:1028
Cholelithiasis, Extramedullary hematopoiesis, Hyperplasia of the maxilla, Microcytic anemia, Hemo... ORPHA:846
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Finger syndactyly, Abnormal metacarpal morphology, Elbow ankylosis,... ORPHA:2658
Trisomy 9P
Dental crowding, Downturned corners of mouth, Non-midline cleft of the upper lip, Impacted tooth,... ORPHA:236
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Fibular bowing, Femoral bowing, Tibi... OMIM:600081
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu... ORPHA:85184
Diastrophic Dysplasia
Depressed nasal bridge, Ulnar deviation of finger, Hypoplastic cervical vertebrae, Abnormal form ... ORPHA:628
Albers-Sch├Ânberg Osteopetrosis
Short distal phalanx of finger, Abnormality of the dentition, Mandibular osteomyelitis, Abnormal ... ORPHA:53
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Osteopenia, Failure to thrive, Dense metaphyseal bands, Slender build, Slender long bones with na... ORPHA:50811
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Dental crowding, Long phil... OMIM:190351
Marbach-Rustad Progeroid Syndrome
Eruption failure, Micrognathia, Narrow mouth, Delayed eruption of primary teeth, Short clavicles,... OMIM:619322
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Gingival Fibromatosis-Hypertrichosis Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth, Thick eyebrow, Hirs... ORPHA:2026
Ectodermal Dysplasia With Adrenal Cyst
Breast hypoplasia, Hypoplastic nipples, Hypohidrosis, Delayed eruption of teeth OMIM:129550
Hypophosphatemic Bone Disease
Bowing of the legs, Rickets, Osteomalacia OMIM:146350
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Hypercholanemia, Familial 1
Rickets, Failure to thrive OMIM:607748
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Abnormal bo... ORPHA:1952
Autosomal Recessive Malignant Osteopetrosis
Abnormal epiphysis morphology, Delayed eruption of teeth, Premature loss of primary teeth, Abnorm... ORPHA:667
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis, Short iliac bones... OMIM:271530
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Osteopenia, Hypoplasia of the max... OMIM:620099
Ck Syndrome
Dental crowding, Retrognathia, Micrognathia, Abnormal cortical bone morphology, Malar flattening,... OMIM:300831
Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti... ORPHA:1525
Caffey Disease
Cortical thickening of long bone diaphyses, Cortical irregularity, Periosteal thickening of long ... ORPHA:1310
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car... ORPHA:3238
Hall-Riggs Syndrome
Platyspondyly, Depressed nasal bridge, Thick lower lip vermilion, Prominent nose, Anteverted nare... OMIM:234250
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Depressed nasal bridge, Fetal ascites, Flared metaphysis, Advanced... OMIM:215045
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Increased HbA2 hemoglobin, Increased bone mineral density, Decreased me... OMIM:616943
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Elevated circulating aspartate aminotransferase concentration, Malar flatte... OMIM:614727
Hypodontia-Dysplasia Of Nails Syndrome
Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Fine hair, Agenesis of pe... ORPHA:2228
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Cleft palate, Natal tooth, Abnormal mandible morphology OMIM:217150
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Splenomegaly, Femur fracture, Anemia, Osteopetrosis, Hepatom... OMIM:612301
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Thick eyebrow, Exagge... ORPHA:2025
Spinocerebellar Ataxia, Autosomal Recessive 20
Wide nasal base, Dental crowding, Clinodactyly, Delayed eruption of teeth, Long philtrum, Bulbous... OMIM:616354
Osseous Heteroplasia, Progressive
Ankylosis, Ectopic ossification in muscle tissue, Limb undergrowth OMIM:166350
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Decreased body weight, Brachydactyly, Short femoral neck, Small for... OMIM:618392
Greenberg Dysplasia
Rhizomelia, Abnormal pelvis bone ossification, Micromelia, Micrognathia, Decreased skull ossifica... ORPHA:1426
Aredyld Syndrome
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Mandibular prognathia, Abnorma... ORPHA:1133
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Rickets, Bulging e... OMIM:277440
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Osteoporosis, Osteolysis ORPHA:100024
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Flattened epiphysis, High palate, Dislocated radial head, Short me... OMIM:612350
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... ORPHA:199306
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S... OMIM:272460
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300554
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Depressed nasal bridge, Hypermobility of interphalangeal joints, Dentin... OMIM:613849
Frank-Ter Haar Syndrome
Wide nasal bridge, Depressed nasal bridge, Mandibular prognathia, Delayed eruption of teeth, Camp... ORPHA:137834
17Q21.31 Microduplication Syndrome
Abnormality of the dentition, Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Malar f... ORPHA:217340
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Abnormal hemoglobin, Decreased skull ossification, Short n... ORPHA:3319
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ... OMIM:118651
Platyspondyly, Depressed nasal bridge, Dentinogenesis imperfecta, Cone-shaped epiphysis, Square p... ORPHA:166272
Weismann-Netter Syndrome
Delayed eruption of permanent teeth, Fibular bowing, Lateral femoral bowing, Horizontal sacrum, C... OMIM:112350
Immunodeficiency 53
Recurrent upper respiratory tract infections, Impaired lymphocyte transformation with phytohemagg... OMIM:617585
Synostosis of joints, Craniofacial hyperostosis, Depressed nasal bridge, Mandibular prognathia, D... ORPHA:61
Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin... OMIM:118400
Fibrodysplasia Ossificans Progressiva
Abnormal vertebral morphology, Synostosis of joints, Limitation of joint mobility, Ectopic ossifi... ORPHA:337
Acromesomelic Dysplasia, Maroteaux Type
Depressed nasal bridge, Vertebral wedging, Abnormal form of the vertebral bodies, Joint stiffness... ORPHA:40
Winchester Syndrome
Carpal osteolysis, Gingival overgrowth, Osteolysis involving tarsal bones, Generalized osteoporos... OMIM:277950
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Delay... OMIM:264700
Majeed Syndrome
Failure to thrive, Osteomyelitis, Leukocytosis, Increased susceptibility to fractures, Splenomega... ORPHA:77297
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Long philtrum, Short nose, Wide nose OMIM:125700
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Irregular femoral epiphy... OMIM:618728
Gorham-Stout Disease
Osteopenia, Abnormal facial skeleton morphology, Abnormality of the temporomandibular joint, Cort... ORPHA:73
Maxillonasal Dysplasia
Short distal phalanx of finger, Depressed nasal ridge, Depressed nasal bridge, Hypoplasia of the ... ORPHA:1248
Acromicric Dysplasia
Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Long philtrum, Thic... ORPHA:969
Orofaciodigital Syndrome Type 2
Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi... ORPHA:2751
Parastremmatic Dwarfism
Genu valgum, Bowing of the long bones, Short neck, Flexion contracture, Scoliosis, Kyphosis OMIM:168400
Osteogenesis Imperfecta, Type Xiii
Wide distal femoral metaphysis, Recurrent fractures, Femoral bowing, Wide pubic symphysis, Joint ... OMIM:614856
Congenital Syphilis
Periostitis, Extramedullary hematopoiesis, Hyperplasia of the maxilla, Hepatosplenomegaly, Mulber... ORPHA:499009
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Anteverted nares, Micrognathia, Thin upper lip vermilion, Short ne... ORPHA:2015
Osteoporosis OMIM:166710
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ... OMIM:166260
Immunodeficiency 104
Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatomegaly, T lymphocytopenia OMIM:608971
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormality of the dentition, Kyphosis, Unilateral radial aplasia, Eruption failure, Long philtru... ORPHA:476126
Neutropenia, Chronic Familial
Periodontitis, Neutropenia, Gingivitis, Clubbing, Premature loss of teeth, Clubbing of fingers OMIM:162700
Mitochondrial Myopathy And Sideroblastic Anemia
Long philtrum, Micrognathia, Anemia, High palate, Scoliosis, Kyphosis, Short nose ORPHA:2598
Depressed nasal ridge, Hepatosplenomegaly, Short neck, Brachydactyly, Short long bone, Short nose ORPHA:221054
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Slender long bone, Abnormal hip bone morphology, Micrognathia, Abno... ORPHA:1486
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption of teeth, Abnor... ORPHA:1782
Hypophosphatasia, Adult
Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac... OMIM:146300
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Fibular bowing, Femoral bowing, Hypo... OMIM:241530
Osteogenesis Imperfecta, Type Xxiii
Osteopenia, Shallow acetabular fossae, Recurrent fractures, Genu valgum, Broad femoral head, Trun... OMIM:620639
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Pseudo-fractures, Delayed eruption of teeth, Osteomalacia, I... ORPHA:289176
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ... OMIM:184260
Proteus Syndrome
Depressed nasal bridge, Mandibular hyperostosis, Facial hyperostosis, Open mouth, Splenomegaly, T... OMIM:176920
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Abnormal epiphysis morphology, Short 1st metacarpal, Delayed eruption of teet... ORPHA:63442
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Thin bony co... OMIM:619638
Osteopetrosis With Renal Tubular Acidosis
Bone marrow hypocellularity, Tooth malposition, Abnormality of the dentition, Retrognathia, Thick... ORPHA:2785
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Wide nasal bridge, Depressed nasal bridge, Short finger, Sclerosis of skull base, ... OMIM:313420
Codas Syndrome
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Depressed nasal bridge, Abnor... ORPHA:1458
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Delayed eruption of teeth, Sparse body hair, Microdontia, Hypohidros... ORPHA:181
Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol... ORPHA:950
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Short neck, Flattened e... OMIM:251450
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, High ... OMIM:268305
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Pat... OMIM:155050
Lowry-Maclean Syndrome
Craniosynostosis, Delayed eruption of teeth, Cleft palate OMIM:600252
Arthrogryposis, Distal, Type 12
Ankle flexion contracture, Dental crowding, Knee flexion contracture, Congenital finger flexion c... OMIM:620545
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Decreased skull ossifi... ORPHA:1452
Depressed nasal bridge, Broad thumb, Abnormal epiphysis morphology, Short nose, Joint stiffness, ... ORPHA:2746
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Erlenmeyer flask deformity of the femurs, Hypersplenism, Splenomegaly, Anemia, Thromb... OMIM:610539
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Tooth agenesis, Micrognathia, Cryptorchidism, Abnormal palate morphology, Multiple unerupted teet... ORPHA:2063
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Obesity, Femoral bowing, Short long bone, Metaphysea... ORPHA:174
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Ciliary Dyskinesia, Primary, 1
Anosmia, Nasal polyposis, Chronic sinusitis, Chronic rhinitis, Absent frontal sinuses, Asplenia, ... OMIM:244400
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased interverte... OMIM:224300
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... OMIM:313500
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Tyrosinemia Type 1
Rickets of the lower limbs, Splenomegaly ORPHA:882
Roifman Syndrome
Epiphyseal dysplasia, Short toe, Underdeveloped nasal alae, Downturned corners of mouth, Long phi... ORPHA:353298
Short Stature, Dauber-Argente Type
Osteopenia, Delayed eruption of teeth, Decreased fibular diameter, Arachnodactyly, Long toe, Long... OMIM:619489
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Nasal polyposis, Abnormality of the nose, Pancreatic adenocarcinoma, Abno... ORPHA:2869
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Short phi... ORPHA:2325
Primary Ciliary Dyskinesia
Nasal polyposis, Polysplenia, Nasal congestion, Chronic sinusitis, Chronic rhinitis, Asplenia, Cl... ORPHA:244
W Syndrome
Upper lip pit, Broad uvula, Radial bowing, Clinodactyly, Submucous cleft hard palate, Hypoplasia ... ORPHA:2804
Beemer-Ertbruggen Syndrome
Wide nasal bridge, Bulbous nose, Micrognathia, Deep philtrum, Thrombocytopenia, Increased bone mi... ORPHA:1237
Depressed nasal bridge, Delayed eruption of teeth, Short neck, Enamel hypoplasia, Brachydactyly, ... OMIM:612463
Bent Bone Dysplasia Syndrome 1
Coronal craniosynostosis, Natal tooth, Hepatosplenomegaly, Micrognathia, Gingival overgrowth, Mal... OMIM:614592
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth, Sparse hair ORPHA:2266
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Craniometaphyseal Dysplasia, Autosomal Recessive
Wide nasal bridge, Depressed nasal ridge, Mandibular prognathia, Flared metaphysis, Facial hypero... OMIM:218400
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Craniofacial hyperostosis, Tooth malposition, De... ORPHA:2484
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Camptodactyly of finger, Palmar hyperhidrosis, Nail dystrophy, Oral mucosal bliste... OMIM:226650
Roifman Syndrome
Short toe, Underdeveloped nasal alae, Downturned corners of mouth, Long philtrum, Narrow nose, Ir... OMIM:616651
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Osteopenia, Carious teeth, Exocrine pancreatic insufficiency, Splenomegaly, An... OMIM:612714
Gapo Syndrome
High, narrow palate, Depressed nasal bridge, Eruption failure, Long philtrum, Thick lower lip ver... OMIM:230740
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Macrodontia, High palate, Short foot, Short nose OMIM:300577
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Splenomegaly, Gingivitis, Anemia, Hepatomegaly, Recurrent fractures, Premature loss o... OMIM:618107
Autosomal Recessive Primary Microcephaly
Thin upper lip vermilion, Abnormal cortical bone morphology ORPHA:2512
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rickets, Osteomalacia, Trap... OMIM:307800
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Recurrent aphthous stomatitis, Au... OMIM:301078
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Neutropen... OMIM:271510
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, R... ORPHA:79303
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Coronal craniosynostosis, Short toe, Genu valgum, Limited elbow extension, Mic... OMIM:614078
Hypocalcemic Vitamin D-Resistant Rickets
Coarse metaphyseal trabecularization, Osteomalacia, Abnormal hip bone morphology, Recurrent fract... ORPHA:93160
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Dent Disease 1
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora... OMIM:300009
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... OMIM:204700
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Camurati-Engelmann Disease
Bone marrow hypocellularity, Mandibular prognathia, Carious teeth, Sclerosis of skull base, Genu ... OMIM:131300
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Patchy alopecia, Tongue atrophy, Poliosis, Short ... OMIM:141300
Rothmund-Thomson Syndrome
Carious teeth, Aplastic anemia, Aplasia/Hypoplasia of the patella, Neutropenia, Leukemia, Osteope... ORPHA:2909
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Coarse metaphyseal trabecularization, Thoracic platyspondyly, Anteverted ... OMIM:618961
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess, Lymphadenopathy, Ne... OMIM:150550
Brachydactyly, Type E1
Type E brachydactyly, Multiple impacted teeth, Short clavicles, Brachydactyly, Short metatarsal, ... OMIM:113300
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Failure to thrive OMIM:602722
Temple-Baraitser Syndrome
Broad thumb, Everted upper lip vermilion, Long hallux, Open mouth, Everted lower lip vermilion, H... ORPHA:420561
Zimmermann-Laband Syndrome 3
Wide nasal bridge, Short distal phalanx of finger, Bifid uvula, Aplasia of the distal phalanx of ... OMIM:618658
Elsahy-Waters Syndrome
Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, Wide nose, Hypo... OMIM:211380
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Chronic sinusitis, Lymphadenopathy, Arthritis, B lymphocytop... ORPHA:397596
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Diastema, Bicoronal synostosis, Agenesis of molar, Microdontia, Joint hypermobility, ... OMIM:619718
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Failure to thrive, Increased bone mineral density, Short humerus, Lateral femoral bow... OMIM:239000
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... OMIM:603552
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Recurrent sinusitis, Absent circulating B cells, Generalized lymphade... OMIM:620282
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Genu valgum, Micrognathia, Hip contracture, Flattened epiphysis, High palate, Adva... OMIM:618363
Osteogenesis Imperfecta, Type Xviii
Abnormality of the dentition, Femoral bowing, Micrognathia, Joint hypermobility, Bowing of the lo... OMIM:617952
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femoral head, Salmonella osteom... OMIM:209950
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Lymphopenia,... ORPHA:277
Craniometadiaphyseal Dysplasia
Osteopenia, Mandibular prognathia, Carious teeth, Natal tooth, Absent paranasal sinuses, Flared m... OMIM:269300
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Rickets, Dela... ORPHA:289157
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Recurrent sinusitis, Decreased proportion of class-switched ... OMIM:607594
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos... OMIM:615631
Steatocystoma Multiplex
Natal tooth OMIM:184500
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Short nec... OMIM:253000
Craniometaphyseal Dysplasia, Autosomal Dominant
Tooth malposition, Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femu... OMIM:123000
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia OMIM:179830
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Recurrent fractures, Abnormal metaphysis morphology, Splenomegaly ORPHA:417
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ... OMIM:603546
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Joint hypermobility, Everted lower lip vermilion, Convex na... ORPHA:1695
Spastic Paraplegia 18B, Autosomal Recessive
High palate, Scoliosis, Kyphosis, Joint contracture OMIM:611225
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Generalized hirsutism, Narrow palat... ORPHA:3019
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Epiphyseal stippling, Hepatomegaly... OMIM:614876
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... ORPHA:457395
X-Linked Hypophosphatemia
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, Vertebral hyp... ORPHA:89936
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatomegaly OMIM:618852
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Hall-Riggs Syndrome
Platyspondyly, Wide nasal bridge, Abnormal epiphysis morphology, Downturned corners of mouth, Del... ORPHA:2107
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells, Increased B cell cou... OMIM:618982
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volum... OMIM:611590
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... OMIM:112250
Infantile Sialic Acid Storage Disease
Osteopenia, Ascites, Anteverted nares, Gingival overgrowth, Splenomegaly, Cardiomegaly, Hepatomeg... OMIM:269920
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Hip dysplasia, Flexion contracture, Scoliosis, Short nose OMIM:618379
Camurati-Engelmann Disease
Carious teeth, Limitation of joint mobility, Abnormal tibia morphology, Genu valgum, Metaphyseal ... ORPHA:1328
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Depressed nasal bridge, Toe syndactyly, Elbow flexion contracture, Anteverted nares, ... OMIM:616809
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Carious teeth, Delayed eruption of teeth, Long philtrum, Elbow fle... OMIM:214150
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... ORPHA:93323
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
12Q14 Microdeletion Syndrome
Downturned corners of mouth, Abnormality of the spleen, Prominent nasal bridge, Micrognathia, Hyp... ORPHA:94063
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Depressed nasal bridge, Toe syndactyly, Dental malocclusion, Shor... ORPHA:1327
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Campt... OMIM:618761
Pai Syndrome
Bifid uvula, Depressed nasal bridge, Nasal polyposis, Midline defect of the nose, Median cleft up... ORPHA:1993
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Microglossia, Cleft mandible... ORPHA:364577
Anemia, Splenomegaly, Neutropenia OMIM:602079
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... OMIM:125500
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre... OMIM:300853
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal ... OMIM:113000
Ollier Disease
Platyspondyly, Abnormal cartilage morphology, Joint stiffness, Lymphangioma, Anemia, Multiple enc... ORPHA:296
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Abnormal palate morphology, Brachydac... ORPHA:1277
Rothmund-Thomson Syndrome Type 2
Carious teeth, Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of the upper... ORPHA:221016
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Pear-shap... OMIM:190350
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Reduced natural killer cell count, Recurrent upper respiratory tract infections, Cutaneous absces... OMIM:619752
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia OMIM:618987
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Micromelia OMIM:273680
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Delayed epiphyseal ossification, Metaphyseal irregularity, Fibular overgrowth, Sho... OMIM:602557
Ophthalmomandibulomelic Dysplasia
Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Limitation of joint mobi... ORPHA:2741
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Tooth agenesis, Camptodactyly of finger, Anterior hypopituitarism, Lon... ORPHA:2863
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar... ORPHA:363417
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Tooth abscess, Iron deficiency anemia, Bowing of the legs ORPHA:89937
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... ORPHA:79301
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Limitation of joint mobility, Abnormal epiphysis morphology, Premature epimetaphyseal... ORPHA:85435
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Nasal polyposis, Arthritis, Sinusitis ORPHA:183
Rothmund-Thomson Syndrome Type 1
Carious teeth, Aplastic anemia, Patellar aplasia, Neutropenia, Leukemia, Genu varum, Short metaca... ORPHA:221008
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Anteverted nares, Gingival overgrowth, Micrognathia, Median ... ORPHA:1832
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Aplastic clavicle, Metaphyseal cupping, Depressed nasal bridge, Abnormal ep... ORPHA:50945
Potocki-Shaffer Syndrome
Broad nasal tip, Downturned corners of mouth, Underdeveloped nasal alae, Depressed nasal tip, Pro... ORPHA:52022
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Osteosclerosis of the base of the skull OMIM:609993
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega... OMIM:237800
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Reduced bone mineral density ORPHA:172
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Long philtrum, Micrognathia, Narrow mou... ORPHA:261120
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Depressed nasal bridge, Metaphyseal cupping, Dysplastic sacrum, ... OMIM:613320
Peutz-Jeghers Syndrome
Nasal polyposis, Bile duct polyp, Labial melanotic macule, Biliary tract abnormality, Iron defici... OMIM:175200
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Decreased liver function, Extramedullary hematopoiesis, Ascite... OMIM:617021
Agammaglobulinemia 8B, Autosomal Recessive
Depressed nasal bridge, B Acute Lymphoblastic Leukemia, Everted upper lip vermilion, Pancytopenia... OMIM:619824
Rosaï-Dorfman Disease
Anemia, Osteolysis, Lymphadenopathy ORPHA:158014
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... OMIM:204650
Cernunnos-Xlf Deficiency
Lymphopenia, Bulbous nose, Thrombocytopenia, B lymphocytopenia, Anemia, Convex nasal ridge, T lym... ORPHA:169079
Sandhoff Disease
Hepatomegaly, Kyphosis, Splenomegaly ORPHA:796
Intellectual Developmental Disorder, Autosomal Dominant 23
Wide nasal bridge, Depressed nasal bridge, Broad distal phalanx of finger, Dental crowding, Sanda... OMIM:615761
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm,... OMIM:249710
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Failure to thrive, Splenomegaly OMIM:211600
Pseudohypoparathyroidism Type 1B
Depressed nasal bridge, Delayed eruption of teeth, Increased bone density with cystic changes, Sh... ORPHA:94089
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, D... ORPHA:2831
Fetal Akinesia Deformation Sequence 4
Wide nasal bridge, Retrognathia, Micrognathia, Short neck, Camptodactyly, High palate, Rocker bot... OMIM:618393
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Dental crowding, Delayed eruption of teeth, Underdeveloped nasal alae, Long philtrum, Anteverted ... OMIM:618825
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures OMIM:615066
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Microdontia, Thin upper lip v... OMIM:619736
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Overlapping fingers, Radioulnar synostosis, Limited pronation/supination of f... OMIM:616738
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Delayed eruption of te... ORPHA:508542
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Carpal bone hypoplasia, Short neck, Thoracolumbar scoliosis, Short metacarpal, S... OMIM:616723
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Pitt-Hopkins Syndrome
Tooth malposition, Small hand, Failure of eruption of permanent teeth, Finger clinodactyly, Trian... ORPHA:2896
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... OMIM:616221
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Leukopenia, Joint stiffness, Splenomegaly, Joint hypermobility, Hepatomegaly, Reduce... OMIM:620210
Lipoid Proteinosis
Abnormal oral mucosa morphology, Nasal polyposis, Microglossia, Thick lower lip vermilion, Abnorm... ORPHA:530
Aarskog-Scott Syndrome
Wide nasal bridge, Abnormality of the dentition, Small hand, Hypoplasia of the maxilla, Finger sy... ORPHA:915
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious... OMIM:271630
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Hepatomeg... OMIM:253010
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Wide nasal bridge, Dental crowding, Retrognathia, Thick lower lip vermilion, Anteverted nares, Mi... OMIM:618342
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short distal phalanx of finger, Anosmia, Abnormality of the vertebral col... OMIM:302950
Ciliary Dyskinesia, Primary, 35
Nasal polyposis, Abdominal situs ambiguus, Chronic sinusitis, Chronic rhinitis OMIM:617092
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Reduced bone miner... ORPHA:1508
Diamond-Blackfan Anemia 8
Wide nasal bridge, Increased mean corpuscular volume, Thick upper lip vermilion, Macrocytic anemi... OMIM:612563
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Wide mouth, Thin upper lip vermilion, Everted lower lip vermilion, Short p... ORPHA:2429
3M Syndrome
Short neck, Everted lower lip vermilion, Hypoplastic ischia, Bulbous nose, Increased vertebral he... ORPHA:2616
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Cleft soft palate, Micrognathia, Short nose, Oligodontia, Thin upper l... OMIM:616331
Mucopolysaccharidosis Type 4
Platyspondyly, Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Spinal... ORPHA:582
Pierpont Syndrome
Broad nasal tip, Short toe, Prominent fingertip pads, Short finger, Widely spaced teeth, Malar fl... OMIM:602342
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Joint stiffness, Gingival overgrowth, Narrow mouth, Splenomegaly, Protrud... OMIM:230600
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Arthritis OMIM:611762
Odontomicronychial Dysplasia
Abnormality of the dentition, Carious teeth, Short nail, Premature loss of primary teeth, Prematu... ORPHA:1811
Terminal Osseous Dysplasia
Toe clinodactyly, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg shortening, Dep... OMIM:300244
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Sparse eyebrow, Sparse scalp hair, Natal tooth, Cranial hyperostosis, Oligodontia, Sparse eyelash... OMIM:601345
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft upper lip, Bifid uvula, Nasal polyposis, High palate OMIM:155145
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Mandibular prognathia, Cone-shaped epiphysis, Anteverted nares, Malar fla... OMIM:614613
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Clinodactyly, Long philtrum, Anteverted nares, Micrognathia, Unilambdoid synos... OMIM:618577
Raine Syndrome
Natal tooth, Long hallux, Micrognathia, Narrow mouth, Protruding tongue, Bowing of the long bones... OMIM:259775
Abnormal oral mucosa morphology, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morp... ORPHA:507
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Wide mouth, Exaggerated cupid's bow, Thick vermilion border, Clinodactyly of th... OMIM:618506
Hypothyroidism, Congenital, Nongoitrous, 6
Anemia, Congenital hip dislocation, Macroglossia, Delayed eruption of teeth OMIM:614450
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Depressed nasal ridge, Sandal gap, Ascites, Micrognathia, Narrow mouth, Splenomegaly, Anemia, Thi... ORPHA:1046
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Epiphyseal stippling, Decreased liver function, Wide nasal bridge OMIM:614870
Cyclic Neutropenia
Recurrent tonsillitis, Periodontitis, Atrophy of alveolar ridges, Cervical lymphadenopathy, Lymph... ORPHA:2686
Marshall-Smith Syndrome
Choanal atresia, Slender long bone, Retrognathia, Anteverted nares, Gingival overgrowth, Reduced ... ORPHA:561
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Abnormal eyebrow morphology, Decreased fertility, Generalized hirsutis... ORPHA:1816
Shaheen Syndrome
Carious teeth, Enamel hypoplasia, Hypohidrosis OMIM:615328
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Posterior wedging of vertebral bodies, High iliac wing, Carious teeth,... ORPHA:50814
Granulomatosis With Polyangiitis
Nasal mucosa vasculitis, Oral ulcer, Granulomatosis, Sinusitis, Concave nasal ridge OMIM:608710
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Microglossia, Short tibia, Short thumb, Sandal gap, Radial c... ORPHA:1972
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Periodontitis, Bulbous nose, Brachydactyly, Neutrophilia, Short... OMIM:266265
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Short thumb, Overlapping toe, Camptodactyly, Clinodactyly of the 5th finger, Kyphosis OMIM:618453
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Fanconi Renotubular Syndrome 3
Rickets, Bowing of the legs OMIM:615605
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Hypoplasia of the odontoid process, Postaxial foo... ORPHA:508533
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Premature osteoa... OMIM:130060
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... OMIM:602450
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Poems Syndrome
Visceromegaly, Polycythemia, Sclerosis of hand bone, Ascites, Sclerosis of foot bone, Sclerotic v... ORPHA:2905
Tetrasomy 12P
Sparse eyebrow, Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick uppe... ORPHA:884
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Ivory epiphyses of the toes, Genu valgu... OMIM:226980
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Bifid uvula, Dumbbell-shaped femur, Sandal gap, Limitation of joint mobilit... ORPHA:1427
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Choanal atresia, Depressed nasal bridge, Punctate vertebral calci... ORPHA:1914
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Hypoplastic acetabulae, Kyphosis, Splenomegaly, Flared iliac wing, Hepatomegaly, S... OMIM:230650
Difference Of Sex Development-Intellectual Disability Syndrome
Downturned corners of mouth, Genu valgum, Short neck, Thin vermilion border, Spina bifida occulta... ORPHA:2983
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Carpal synostosis, Fibular aplasia, Micrognathia, Narrow mouth, Anodo... ORPHA:90652
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis OMIM:242670
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Short neck, Me... OMIM:613330
Ring Chromosome 8 Syndrome
Anteverted nares, Deviation of finger, Short nose, Abnormal palate morphology ORPHA:1450
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Abnormality of the dentition, Vertebral wedging, Elbow ... OMIM:259450
Pfapa Syndrome
Splenomegaly, Abnormal oral cavity morphology, Lymphadenopathy, Arthritis, Recurrent pharyngitis,... ORPHA:42642
Immunodeficiency 33
Hypodontia, Conical tooth, Delayed eruption of teeth OMIM:300636
Stickler Syndrome Type 1
Platyspondyly, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Long philtrum, Abnormal ... ORPHA:90653
Singleton-Merten Syndrome 1
Shallow acetabular fossae, Carious teeth, Hypoplastic distal radial epiphyses, Genu valgum, Hip d... OMIM:182250
Kenny-Caffey Syndrome, Type 2
Abnormality of the medullary cavity of the long bones, Thickened cortex of long bones, Anemia, In... OMIM:127000
Congenital Atransferrinemia
Anemia, Arthritis, Abnormality of the pancreas ORPHA:1195
Bone Marrow Failure Syndrome 6
Osteopenia, Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemogl... OMIM:618849
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Depressed nasal ridge, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Short nose ORPHA:1355
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Depressed nasal bridge, Kyphosis, Abnormal form of the vertebral ... ORPHA:3098
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Anemia, Thromboc... ORPHA:848
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Open mouth, Everted lower lip vermilion, High palate, Short metacarpal... ORPHA:192
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Stippling of the epiphyses of the distal phalanges of the hand, S... ORPHA:79345
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Reduced bone mineral density, Bowing... ORPHA:157215
Distal Duplication 18Q
Progressive intervertebral space narrowing, Choanal atresia, Carious teeth, Deviation of finger, ... ORPHA:1716
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Kniest Dysplasia
Delayed epiphyseal ossification, Rhizomelia, Dumbbell-shaped femur, Limitation of joint mobility,... OMIM:156550
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... ORPHA:3409
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Aplasia of the nasal bon... ORPHA:93357
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Chronic sinusitis, Absent outer dynein arms, Nasal congestion OMIM:616037
Acrocraniofacial Dysostosis
Broad thumb, Genu valgum, Micrognathia, Choanal atresia, Ulnar deviation of finger, Short 1st met... ORPHA:949
Sialidosis Type 2
Ascites, Splenomegaly, Hepatomegaly, Osteoporosis, Flexion contracture, Kyphosis ORPHA:87876
Abnormal enchondral ossification, Long philtrum, Anteverted nares, Micrognathia, Short neck, Abno... ORPHA:932
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Anodontia, Oligodontia, Tapered finger, Everted lower lip vermilion, Scoliosis, Kyphosis, Wide nose ORPHA:276630
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Wide nasal bridge, Osteopenia, Abnormality of the dentition, Delayed eruption of teeth, Osteomyel... ORPHA:2314
Clark-Baraitser syndrome
Broad nasal tip, Exaggerated median tongue furrow, Widely-spaced maxillary central incisors, Thic... OMIM:300602
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ... ORPHA:100026
Weiss-Kruszka Syndrome
Exaggerated cupid's bow, Prominent nasal tip, Clinodactyly of the 5th finger, Broad philtrum, Pro... ORPHA:502430
Three M Syndrome 2
Short 5th finger, Depressed nasal bridge, Dental malocclusion, Clinodactyly, Slender long bone, D... OMIM:612921
Specific Granule Deficiency 2
Osteopenia, Tooth malposition, Conical tooth, Sandal gap, Absent neutrophil specific granules, Am... OMIM:617475
Aggressive Systemic Mastocytosis
Pathologic fracture, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Incr... ORPHA:98850
Shwachman-Diamond Syndrome
Carious teeth, Aplastic anemia, Pancytopenia, Oral ulcer, Impaired neutrophil chemotaxis, Acute m... ORPHA:811
Aplasia Cutis Congenita