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, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... ORPHA:83450
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Amelogenesis Imperfecta
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... ORPHA:88661
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Increased bone mineral density OMIM:166450
Florid Cemento-Osseous Dysplasia
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... ORPHA:83451
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Increased bone mineral density OMIM:265880
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Cranial hyperostosis, Thrombocytopenia, Mandibular prognathia, Osteopetrosis, Chro... OMIM:259710
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteoscleros... OMIM:607634
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Osteopetrosis, Epistaxis, Anemia, Abnormality of the lymph nodes, Spl... OMIM:612840
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocy... OMIM:611490
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Carious teeth, Spondylolysis, Micrognathia, Hypodontia, Delayed eruption of permanent teeth, Prom... OMIM:265800
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Ectopic ossification in muscle tissue, Failure to thrive, Hyperostosis, Arthritis, Increased bone... ORPHA:2485
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Hepatomegaly, Sandwich appearance of vertebral bodies, Osteopetrosis, Craniosynost... OMIM:259700
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Alveolar process hypoplasia, Maxillozygomatic hypoplasia, Eruption failure, Multiple non-erupting... OMIM:273050
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth OMIM:183300
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Anemia, Abnorma... ORPHA:1802
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Generalized osteosclerosis, Osteopetrosis, Fractures of the long bones, Bone ... OMIM:166600
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... ORPHA:2790
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones ORPHA:564003
Intermediate Osteopetrosis
Erlenmeyer flask deformity of the femurs, Sandwich appearance of vertebral bodies, Abnormality of... ORPHA:210110
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Craniodiaphyseal Dysplasia
Facial hyperostosis, Cranial hyperostosis, Diaphyseal sclerosis OMIM:218300
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Micrognathia, Ascites, Osteopetrosis, Gingival overgrowth, Decreased osteoclast cou... OMIM:259720
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Increased bone mineral density, Hypophosphatemic rickets, Rickets OMIM:241520
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Mazabraud Syndrome
Recurrent fractures, Fibrous dysplasia of the bones ORPHA:57782
Dysplastic Cortical Hyperostosis
Hepatomegaly, Limb undergrowth, Abnormality of limb bone morphology, Abnormal cortical bone morph... ORPHA:2204
Osteoglosphonic Dysplasia
Micrognathia, Abnormal form of the vertebral bodies, Craniosynostosis, Anteverted nares, Brachyda... ORPHA:2645
Pyle Disease
Carious teeth, Metaphyseal dysplasia, Hypoplastic frontal sinuses, Mandibular prognathia, Metaphy... OMIM:265900
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal sclerosi... ORPHA:166119
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedullary hematopoiesis, De... OMIM:259730
Immunodeficiency 13
B lymphocytopenia, Nasal polyposis, Recurrent upper respiratory tract infections, Decreased propo... OMIM:615518
Fgfr2-Related Bent Bone Dysplasia
Decreased calvarial ossification, Micrognathia, Short clavicles, Steep acetabular roof, Bowing of... ORPHA:313855
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Increased bone mineral density, Joint s... OMIM:136300
Gnathodiaphyseal Dysplasia
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia ORPHA:53697
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Osteopenia And Sparse Hair
Joint laxity, Osteopenia OMIM:259690
Mueller-Weiss Syndrome
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... ORPHA:566943
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Eiken Syndrome
Short middle phalanx of finger, Oligodontia, Pseudoepiphyses, Long hallux, Type A1 brachydactyly,... OMIM:600002
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Micrognathia, Cleft palate, Osteopetrosis, Bifid uvula, Delayed eruption of ... ORPHA:2780
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Craniometaphyseal Dysplasia
Depressed nasal bridge, Osteopetrosis, Wide nasal bridge, Abnormality of the metaphysis, Craniofa... ORPHA:1522
Hypertrichosis Lanuginosa Congenita
Gingival overgrowth, Delayed eruption of teeth, Thick eyebrow, Generalized hirsutism, Abnormality... ORPHA:2222
Dentinogenesis Imperfecta
Yellow-brown discoloration of the teeth, Hypocalcification of dental enamel, Pulp obliteration, G... ORPHA:49042
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Increased bone mine... ORPHA:37748
Otopalatodigital Syndrome, Type I
Cleft palate, Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Short nose, M... OMIM:311300
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Joint contracture of the hand, Osteopenia, Camptodactyly, Obesity OMIM:264010
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Brachyolmia Type 1, Hobaek Type
Flat acetabular roof, Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, ... OMIM:271530
Peroxisome Biogenesis Disorder 10A (Zellweger)
Prominent nose, Hepatomegaly, Micrognathia, High palate, Epiphyseal stippling OMIM:614882
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Familial Osteodysplasia, Anderson Type
Carious teeth, Prominent nose, Bifid femur, Depressed nasal ridge, Failure of eruption of permane... ORPHA:2769
Spondyloepiphyseal Dysplasia Tarda
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... ORPHA:93284
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... ORPHA:2972
Otopalatodigital Syndrome Type 1
Cleft palate, Depressed nasal bridge, Oligodontia, Hypoplastic frontal sinuses, Abnormal vertebra... ORPHA:90650
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... ORPHA:99798
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Thin vermilion border, Abnormality of the metaphysis, Shor... ORPHA:2370
Beta-Thalassemia Intermedia
Splenomegaly, Reduced bone mineral density, Hepatosplenomegaly, Anemia of inadequate production, ... ORPHA:231222
Greenberg Dysplasia
Epiphyseal stippling, Malar flattening, Abnormal bone structure, Multiple prenatal fractures, Sho... OMIM:215140
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Hyperostosis cranialis interna, Refractory anemia, Myelofibrosis, Increased bone mine... OMIM:231095
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Spondyloepiphyseal Dysplasia, Nishimura Type
Cleft palate, Short nose, Slender finger, Anisospondyly, Increased bone mineral density, Antevert... ORPHA:163649
Eiken Syndrome
Limited elbow flexion, Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Meta... ORPHA:79106
Beta-Thalassemia Major
Anisopoikilocytosis, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Malar prominence, Decreased... ORPHA:231214
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Dominant Beta-Thalassemia
Splenomegaly, Hypersplenism, Hepatosplenomegaly, Malar prominence, Decreased mean corpuscular hem... ORPHA:231226
Osteoglophonic Dysplasia
Pseudoarthrosis, Short metatarsal, Short nose, Malar flattening, Anteverted nares, Short phalanx ... OMIM:166250
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Cone-shaped epiphysis, Osteoporosis, Platyspondyly, Delayed eruption of teeth, Pr... ORPHA:71267
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Kyphosis, Abnormality o... ORPHA:2114
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Foot acroosteolysis ORPHA:970
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Metaphyseal Chondrodysplasia, Spahr Type
Carious teeth, Short lower limbs, Genu varum, Metaphyseal dysplasia, Abnormality of epiphysis mor... ORPHA:2501
Metatarsus adductus, Micrognathia, Cleft palate, Depressed nasal bridge, Osteopetrosis, Short nos... ORPHA:35107
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Albers-Sch├Ânberg Osteopetrosis
Carious teeth, Abnormality of epiphysis morphology, Generalized osteosclerosis, Anemia, Arthritis... ORPHA:53
Carious teeth, Obtuse angle of mandible, Hepatosplenomegaly, Increased bone mineral density, Hypo... ORPHA:763
Familial Expansile Osteolysis
Thin bony cortex, Pathologic fracture, Osteolysis OMIM:174810
Gingival Fibromatosis-Hypertrichosis Syndrome
Hirsutism, Gingival overgrowth, Delayed eruption of teeth, Thick eyebrow, Generalized hirsutism, ... ORPHA:2026
Ectodermal Dysplasia With Adrenal Cyst
Breast hypoplasia, Hypoplastic nipples, Delayed eruption of teeth, Hypohidrosis OMIM:129550
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... OMIM:204700
Fibromatosis, Gingival, With Distinctive Facies
Irregular dentition, High palate, Delayed eruption of permanent teeth, Thick eyebrow, Everted low... OMIM:228560
Trisomy 9P
Kyphosis, Clinodactyly of the 5th finger, Non-midline cleft lip, Downturned corners of mouth, Sac... ORPHA:236
Amelo-Onycho-Hypohidrotic Syndrome
Fine hair, Abnormal dental enamel morphology, Delayed eruption of teeth, Advanced eruption of tee... ORPHA:1028
Diastrophic Dysplasia
Micrognathia, Cleft palate, Depressed nasal bridge, Short finger, Abnormality of epiphysis morpho... ORPHA:628
Autosomal Recessive Malignant Osteopetrosis
Abnormality of epiphysis morphology, Hepatomegaly, Lymphadenopathy, Chronic rhinitis, Osteopetros... ORPHA:667
Hypercholanemia, Familial 1
Failure to thrive, Rickets OMIM:607748
Osteogenesis Imperfecta, Type Xii
Micrognathia, High palate, Depressed nasal bridge, Osteoporosis, Malar flattening, Delayed erupti... OMIM:613849
Tricho-Dento-Osseous Syndrome
Widely spaced teeth, Microdontia, Enamel hypomineralization, Agenesis of incisor, Taurodontia, In... ORPHA:3352
Dysostosis, Stanescu Type
Carious teeth, Abnormal dental enamel morphology, Increased bone mineral density, Hypoplasia of t... ORPHA:1798
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Hypodontia-Dysplasia Of Nails Syndrome
Fine hair, Hypodontia, Polycystic ovaries, Delayed eruption of teeth, Conical tooth, Abnormality ... ORPHA:2228
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car... ORPHA:3238
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis, Micrognathia OMIM:617306
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Gaucher Disease Type 1
Hepatomegaly, Gingival bleeding, Ascites, Leukopenia, Biliary tract obstruction, Anemia, Splenome... ORPHA:77259
Hall-Riggs Mental Retardation Syndrome
Thick lower lip vermilion, Prominent nose, Hypoplasia of the primary teeth, Microdontia of primar... OMIM:234250
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Osteoporosis, Anemia, Splenomegaly, Osteolysis ORPHA:100024
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Metaphyseal dysplasia, Kyphoscoliosis, Osteoporosis, Malar flattening, Epiphyseal d... OMIM:614727
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Limitation of joint mobility, Pathologic fracture ORPHA:166277
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Delayed eruption of teeth, Abnormality of dental morphology, Ex... ORPHA:2025
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Rickets, Delayed epiphyseal ossification, Sp... OMIM:600785
Osteogenesis Imperfecta, Type Xiii
Joint hypermobility, Decreased body weight, Osteoporosis, Increased bone mineral density OMIM:614856
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Lymphadenopathy, Splenomegaly, Oral ulcer, T lymphocytopenia OMIM:608971
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Amelogenesis imperfecta, Increased overbite, Enamel hypoplasia OMIM:617297
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Delayed eruption of teeth, Camptodactyly of finger, Short phalanx ... OMIM:612350
17Q21.31 Microduplication Syndrome
Toe syndactyly, Micrognathia, High palate, Short philtrum, Short nose, Malar flattening, Sandal g... ORPHA:217340
Aredyld Syndrome
Hepatomegaly, Smooth philtrum, Mandibular prognathia, Abnormal dental enamel morphology, Advanced... ORPHA:1133
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:312500
Hypercholanemia, Familial, 2
Osteopenia OMIM:619256
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta OMIM:615887
Widely spaced teeth, Hepatomegaly, Depressed nasal bridge, Open bite, Macroglossia, Mandibular pr... ORPHA:61
Frank-Ter Haar Syndrome
Premature loss of teeth, Depressed nasal bridge, Short philtrum, Wide mouth, Mandibular prognathi... ORPHA:137834
Depressed nasal ridge, Short nose, Abnormality of the mouth, Hepatosplenomegaly, Short neck, Shor... ORPHA:221054
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Anemia, Abnormal hemoglobin, Decreased skull ossification,... ORPHA:3319
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Osteopetrosis, Anemia, Splenomegaly, Abnormal trabecular bone morphology, Femur fra... OMIM:612301
Osteoporosis OMIM:166710
Acromesomelic Dysplasia, Maroteaux Type
Depressed nasal bridge, Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones,... ORPHA:40
Lenz-Majewski Hyperostotic Dwarfism
Cleft palate, Symphalangism affecting the phalanges of the hand, Abnormal dental enamel morpholog... ORPHA:2658
Depressed nasal bridge, Cone-shaped epiphysis, Bowing of the long bones, Short nose, Platyspondyl... ORPHA:166272
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, Recurrent bronchiolitis, T lymphoc... OMIM:619164
Marbach-Rustad Progeroid Syndrome
Hypodontia, Micrognathia, Smooth philtrum, Short clavicles, Eruption failure, Convex nasal ridge,... OMIM:619322
Weismann-Netter Syndrome
Delayed eruption of permanent teeth, Fibular bowing, Horizontal sacrum, Lateral femoral bowing, K... OMIM:112350
Acromicric Dysplasia
Thick lower lip vermilion, Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Lo... ORPHA:969
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness ORPHA:1525
Dentin Dysplasia, Type I
Microdontia, Periapical bone loss, Pulp obliteration, Abnormality of dental morphology, Taurodont... OMIM:125400
Osteopetrosis With Renal Tubular Acidosis
Thick lower lip vermilion, Hepatomegaly, Micrognathia, High palate, Leukopenia, Osteopetrosis, To... ORPHA:2785
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Micrognathia, Cleft palate, Abnormal vertebral morphology, Short nose, Thin upper lip vermilion, ... ORPHA:2015
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Wide nose, Craniosynostosis, Osteopenia, Joint hypermobility, Recurrent fractures, P... OMIM:147060
Alveolar ridge overgrowth, Oligodontia, Jaw swelling, Narrow palate, Submandibular lymph node enl... OMIM:118400
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Genu varum, Limb undergrowth, Metaphyseal irregularity, Thin vermilion border, Dela... OMIM:602557
Greenberg Dysplasia
Micrognathia, Anterior rib punctate calcifications, Rhizomelia, Decreased skull ossification, Bra... ORPHA:1426
Hypophosphatemic Bone Disease
Osteomalacia, Rickets OMIM:146350
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta OMIM:613211
Caffey Disease
Calvarial hyperostosis, Cortical irregularity, Periosteal thickening of long tubular bones OMIM:114000
Spondylocarpotarsal Synostosis Syndrome
Cleft palate, Failure of eruption of permanent teeth, Capitate-hamate fusion, Short nose, C2-C3 s... OMIM:272460
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Short middle phalanx of finger, Hip osteoarthritis, Abnormality of epiphysis morpholo... ORPHA:63442
Neutropenia, Chronic Familial
Premature loss of teeth, Neutropenia, Clubbing, Periodontitis, Gingivitis, Clubbing of fingers OMIM:162700
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Metaphyseal widening, Osteopetrosis, Platyspondyly, Kyphosis OMIM:618476
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, High palate, Long philtrum, Short nose, Anemia, Kyphosis, Scoliosis ORPHA:2598
Parastremmatic Dwarfism
Genu valgum, Kyphosis, Flexion contracture, Short neck, Scoliosis OMIM:168400
Spondylometaphyseal Dysplasia, X-Linked
Depressed nasal bridge, Hip contracture, Tapered finger, Short finger, Platyspondyly, Knee flexio... OMIM:313420
X-Linked Hypohidrotic Ectodermal Dysplasia
Everted upper lip vermilion, Microdontia, Delayed eruption of teeth, Everted lower lip vermilion,... ORPHA:181
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Cleft palate, Pierre-Robin sequence, Hip contracture, Short long bone, Microretrog... OMIM:618363
Hypophosphatasia, Adult
Rickets, Increased susceptibility to fractures, Osteomalacia, Pathologic fracture, Recurrent frac... OMIM:146300
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... ORPHA:750
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Cleft palate, Arthrogryposis multiplex congenita OMIM:217150
Proteus Syndrome
Mandibular hyperostosis, Thin bony cortex, Depressed nasal bridge, Lymphangioma, Splenomegaly, Op... OMIM:176920
Lowry-Maclean Syndrome
Cleft palate, Craniosynostosis, Delayed eruption of teeth OMIM:600252
Maxillonasal Dysplasia
Depressed nasal ridge, Cleft palate, Depressed nasal bridge, Microdontia, Open bite, Mandibular p... ORPHA:1248
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short nose, Patchy distortion of vertebrae, Short columella, Vertebral cl... OMIM:155050
Codas Syndrome
Depressed nasal bridge, Coronal cleft vertebrae, Abnormality of epiphysis morphology, Abnormal fo... ORPHA:1458
Hypophosphatemic Rickets, Autosomal Dominant
Osteomalacia, Hypophosphatemic rickets, Rickets OMIM:193100
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Osteopenia, Hypersplenism, Erlenmeyer flask deformity of the ... OMIM:610539
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Smooth philtrum, Genu varum, Short metatarsal, Short nose, Malar flat... OMIM:251450
Hepatomegaly, Depressed nasal bridge, Tapered finger, Abnormality of epiphysis morphology, Short ... ORPHA:2746
Odontochondrodysplasia 1
Genu varum, Delayed eruption of teeth, Short phalanx of finger, Flat acetabular roof, Short long ... OMIM:184260
Irregular vertebral endplates, Abnormal dental enamel morphology, Platyspondyly, Delayed eruption... ORPHA:1782
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Micrognathia, High palate, 2-3 toe syndactyly, Eruption failure, Long philtrum, Tapered finger, P... ORPHA:476126
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Hereditary Spherocytosis
Hepatomegaly, Anemia, Cholelithiasis, Gout, Splenomegaly, Extramedullary hematopoiesis, Increased... ORPHA:822
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Abnormality of femur mor... ORPHA:3344
Kimura Disease
Lymphadenopathy, Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia ORPHA:482
Caffey Disease
Cortical thickening of long bone diaphyses, Cortical irregularity, Calvarial hyperostosis, Perios... ORPHA:1310
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Increased intervertebral space, Oligodontia, Delayed eruption of teeth, Absent frontal sinuses, P... OMIM:224300
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Asplenia, Recurrent bronchitis, Chronic rhinitis, Absent outer dynein arms, Chro... OMIM:244400
Abnormality of the ulna, Epiphyseal stippling, Short metatarsal, Abnormal form of the vertebral b... ORPHA:950
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Abnormal diaphysis morphology, Micrognathia, High palate, Thin bony cortex, Overtubulated long bo... ORPHA:85184
Majeed Syndrome
Leukocytosis, Cachexia, Synovitis, Hypochromic microcytic anemia, Failure to thrive, Increased su... ORPHA:77297
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Long fingers, Arachnodactyly, Delayed eruption of teeth, Reduced bone... OMIM:619489
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormal palate morphology, Crowded maxillary incisors, Micrognathia, Narrow palate, Cryptorchidi... ORPHA:2063
Tyrosinemia Type 1
Rickets of the lower limbs, Splenomegaly ORPHA:882
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flared humeral metaphysis, Long coccyx, Short finger, Epi... OMIM:156530
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Metatropic Dysplasia
Abnormal cortical bone morphology, Coarse metaphyseal trabecularization, Camptodactyly of finger,... ORPHA:2635
Depressed nasal bridge, Short metatarsal, Osteoporosis, Delayed eruption of teeth, Enamel hypopla... OMIM:612463
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... OMIM:619126
Roifman Syndrome
Underdeveloped nasal alae, Delayed proximal femoral epiphyseal ossification, Hip contracture, Bro... ORPHA:353298
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Carious teeth, Hepatomegaly, Allergic rhinitis, Anemia, Splenomegaly, Osteopenia, Calvarial hyper... OMIM:612714
Ck Syndrome
Joint hypermobility, Slender build, Abnormal cortical bone morphology OMIM:300831
Gapo Syndrome
Thick lower lip vermilion, Hepatomegaly, Micrognathia, High, narrow palate, Depressed nasal bridg... OMIM:230740
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Premature loss of teeth, Anemia, Splenomegaly, Osteopenia, Gingivitis, Recurrent fr... OMIM:618107
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Roifman Syndrome
Hepatomegaly, Underdeveloped nasal alae, Narrow nose, Hip contracture, Long philtrum, Lymphadenop... OMIM:616651
Mental Retardation, X-Linked 91
High palate, Short nose, Small hand, Short 5th finger, Short foot, Clinodactyly, Macrodontia OMIM:300577
Buschke-Ollendorff Syndrome
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, O... ORPHA:1306
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Hypodontia, Micrognathia, High palate, 2-3 toe syndactyly, Tapered finger, Short nose, Kyphosis, ... OMIM:617061
Peutz-Jeghers Syndrome
Abnormality of the gallbladder, Neoplasm of the nose, Biliary tract neoplasm, Pancreatic adenocar... ORPHA:2869
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair, Advanced eruption of teeth ORPHA:2266
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Sinusitis, Recurrent upper respiratory tract infections, Lymph... ORPHA:277
Gnathodiaphyseal Dysplasia
Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteopenia OMIM:166260
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Depressed nasal ridge, Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergro... OMIM:118651
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Pulp calcification, Taurodontia, Microdontia OMIM:313490
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Rickets, Failure to thrive, Delayed epiphyseal ossification, Recurrent fracture... OMIM:600081
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Primary Ciliary Dyskinesia
Asplenia, Chronic rhinitis, Chronic sinusitis, Clubbing, Nasal congestion, Nasal polyposis, Polys... ORPHA:244
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Lumbar platyspondyly, Increased intervertebral space, Depressed nasal bridge, Beaking of vertebra... OMIM:618961
Beemer-Ertbruggen Syndrome
Micrognathia, Wide nasal bridge, Deep philtrum, Bulbous nose, Increased bone mineral density, Thr... ORPHA:1237
Premature Aging Syndrome, Penttinen Type
Micrognathia, Narrow nose, Thin vermilion border, Prominent nasal bridge, Delayed eruption of tee... OMIM:601812
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Hemifacial Atrophy, Progressive
Poliosis, Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion, ... OMIM:141300
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hepatomegaly, Osteoporosis, Kyphosis, Macrovesicular hepatic steatosis, Scoliosis OMIM:618234
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Craniometaphyseal Dysplasia, Autosomal Recessive
Delayed eruption of permanent teeth, Club-shaped distal femur, Metaphyseal dysplasia, Bony parana... OMIM:218400
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose, Osteopenia, Long philtrum OMIM:125700
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Craniometadiaphyseal Dysplasia
Carious teeth, High palate, Genu varum, Microdontia, Broad long bones, Mandibular prognathia, Scl... OMIM:269300
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis imperfecta OMIM:612529
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu varum, Neutropenia, Metaphyseal irregularity, Malar flattening, Short nose, Short dental roo... OMIM:271510
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... ORPHA:199306
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Rickets OMIM:602722
Ohdo Syndrome
Widely spaced teeth, Micrognathia, Smooth philtrum, Depressed nasal bridge, Long philtrum, Short ... OMIM:249620
Cleidocranial Dysplasia
Sinusitis, Carious teeth, Cleft palate, Abnormal dental enamel morphology, Delayed eruption of te... ORPHA:1452
Camurati-Engelmann Disease
Carious teeth, Cortical thickening of long bone diaphyses, Mandibular prognathia, Bone marrow hyp... OMIM:131300
Otodental Syndrome
Carious teeth, Pulp calcification, Long philtrum, Odontoma, Abnormal dental enamel morphology, Gi... ORPHA:2791
Cleidocranial Dysplasia
Cleft palate, Malar flattening, Aplastic clavicle, Absent frontal sinuses, Increased bone mineral... OMIM:119600
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Syndactyly, Poikilocytos... OMIM:615631
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... OMIM:150550
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Cernunnos-Xlf Deficiency
B lymphocytopenia, Convex nasal ridge, Anemia, Bulbous nose, Lymphopenia, Thrombocytopenia, T lym... ORPHA:169079
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose, Microretrognathia, Long philtrum OMIM:218010
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Cleft palate, Short nose, Wide nasal bridge, Genu valgum, Short foot, Short metacar... OMIM:614078
Ramon Syndrome
Abnormal dental enamel morphology, Delayed eruption of teeth, Narrow palate, Generalized hirsutis... ORPHA:3019
Hall-Riggs Syndrome
Prominent nose, Wide mouth, Abnormality of epiphysis morphology, Abnormal dental enamel morpholog... ORPHA:2107
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Enamel hypomineralization, Anterior open-bite malocclusion, Amelogenesis imperfecta OMIM:617217
Mucopolysaccharidosis, Type Iva
Carious teeth, Epiphyseal deformities of tubular bones, Osteoporosis, Kyphosis, Scoliosis, Widely... OMIM:253000
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Epiphyseal stippling, Glossoptosis, Elevated circulating aspartate aminotransferase... OMIM:614876
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Recurrent fractures, Abnormality of the metaphysis, Splenomegaly ORPHA:417
Brachydactyly, Type E1
Short clavicles, Short metatarsal, Short metacarpal, Brachydactyly, Multiple impacted teeth, Type... OMIM:113300
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short nose, Malar flattening, Prominent calcaneus, Toe clinodactyly, Limited elbow extension, Sho... ORPHA:457395
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Partial fusion of carpals, Delayed eruption of teeth, Camptodactyly of fi... OMIM:305620
Dentinogenesis Imperfecta, Shields Type Iii
Periapical bone loss, Anterior open-bite malocclusion, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Failure to thrive, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volum... OMIM:611590
Mucopolysaccharidosis, Type Ivb
Carious teeth, Epiphyseal deformities of tubular bones, Osteoporosis, Kyphosis, Scoliosis, Widely... OMIM:253010
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis, Oral ulcer OMIM:618852
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Ectopic ossification in muscle tissue, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:337
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Hypoplasia of the femoral head, Lym... OMIM:209950
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Short metatarsal, Delayed eruption of teeth, Coxa magna, Cone-shaped epiphyses of ... OMIM:190350
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Recurrent upper respiratory tract infe... OMIM:613101
Brachydactyly, Type B1
Cutaneous finger syndactyly, Delayed eruption of permanent teeth, Short middle phalanx of finger,... OMIM:113000
Robinow Syndrome, Autosomal Dominant 2
Micrognathia, Dental crowding, Depressed nasal bridge, Long philtrum, Cleft soft palate, Broad th... OMIM:616331
Lichtenstein Syndrome
Carious teeth, Neutropenia, Ulnar deviation of finger, Increased susceptibility to fractures, Ost... OMIM:246550
Non-Distal Trisomy 10Q
Micrognathia, High palate, Depressed nasal bridge, Convex nasal ridge, Short nose, Everted lower ... ORPHA:1695
Temple-Baraitser Syndrome
Malar flattening, Delayed eruption of teeth, Long hallux, Anteverted nares, Thick nasal alae, Eve... ORPHA:420561
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Small epiphyses, Depressed nasal bridge, Proximal femoral epiphysiolysis, Narrow pelvis bone, Cra... OMIM:616723
Camptodactyly Syndrome, Guadalajara Type 1
Hallux valgus, Toe syndactyly, High palate, Depressed nasal bridge, Open bite, Mandibular prognat... ORPHA:1327
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Cervical platyspondyly, Abnormal ilium morphology, Genu varu... ORPHA:93314
Camurati-Engelmann Disease
Carious teeth, Abnormality of the vertebral column, Abnormality of the ulna, Metaphyseal dysplasi... ORPHA:1328
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets OMIM:613388
Infantile Sialic Acid Storage Disease
Hepatomegaly, High palate, Ascites, Vacuolated lymphocytes, Metaphyseal irregularity, Gingival ov... OMIM:269920
Grant Syndrome
Decreased skull ossification, Abnormal cortical bone morphology, Joint hyperflexibility ORPHA:2097
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Recurrent bronchitis, Lymphadenopathy, Splenomegaly, Autoimmune thro... OMIM:300853
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Micromelia OMIM:273680
Ollier Disease
Lymphangioma, Anemia, Platyspondyly, Abnormality of the metaphysis, Multiple enchondromatosis, Ab... ORPHA:296
Pai Syndrome
Cleft palate, Depressed nasal bridge, Bifid uvula, Abnormal oral frenulum morphology, Nasal polyp... ORPHA:1993
Anemia, Neutropenia, Splenomegaly OMIM:602079
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Short Stature-Wormian Bones-Dextrocardia Syndrome
Micrognathia, High palate, Abnormality of the philtrum, Long eyelashes, Delayed eruption of teeth... ORPHA:2863
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Fragmented, irregular epiphyses, Limi... OMIM:177170
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Microdontia, Amelogenesis imperfecta OMIM:301200
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, S... OMIM:617514
Gorham-Stout Disease
Abnormality of ethmoid bone, Abnormality of femur morphology, Osteolysis involving bones of the l... ORPHA:73
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly, Wide nasal bridge, Epiphyseal stippling OMIM:614870
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Developmental And Epileptic Encephalopathy 73
Short nose, Hip dysplasia, Narrow nasal bridge, Flexion contracture, Scoliosis OMIM:618379
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Osteoporosis, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated... ORPHA:79301
Peutz-Jeghers Syndrome
Nasal polyposis, Iron deficiency anemia, Labial melanotic macule, Neoplasm of the pancreas, Clubb... OMIM:175200
Hyperphosphatasia With Mental Retardation Syndrome 6
Prominent nasal tip, 2-3 toe syndactyly, High palate, Depressed nasal bridge, Hip contracture, Wi... OMIM:616809
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Increased proportion of memory T cells, Lymphadenopathy, Hepatosplenomega... OMIM:618982
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti... OMIM:237800
Catifa Syndrome
Cleft palate, Long philtrum, Tooth malposition, Delayed eruption of teeth, Cleft lip, Increased o... OMIM:618761
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Osteoporosis, Abnormal mast cell morphology, Splenomegaly, Increas... ORPHA:98848
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Eosinophilia, Nasal polyposis, Arthritis ORPHA:183
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... OMIM:603554
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Amelogenesis imperfecta, Dental malocclusion OMIM:130900
Multicentric Osteolysis, Nodulosis, And Arthropathy
C1-C2 subluxation, Hip contracture, Delayed eruption of teeth, Bulbous nose, Protrusio acetabuli,... OMIM:259600
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Micrognathia, Median cleft lip and palate, Mandibular aplasia, Short nose,... ORPHA:1832
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Kerion Celsi
Lymphadenopathy, Recurrent cutaneous abscess formation ORPHA:499
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
12Q14 Microdeletion Syndrome
Abnormality of the spleen, Hypodontia, Micrognathia, Wide nose, Thin vermilion border, Prominent ... ORPHA:94063
Renal Tubular Acidosis Iii
Osteomalacia, Rickets OMIM:267200
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Craniometaphyseal Dysplasia, Autosomal Dominant
Abnormality of the vertebral column, Club-shaped distal femur, Bony paranasal bossing, Mandibular... OMIM:123000
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal cortical bone morphology, Limitation of joint mobility ORPHA:1486
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Blomstrand Lethal Chondrodysplasia
Micrognathia, Depressed nasal bridge, Long philtrum, Abnormality of epiphysis morphology, Bowing ... ORPHA:50945
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Mandibular prognathia, Wide nose, Abnormal form of the vertebral bodies, S... ORPHA:2831
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Hypodontia, Sparse eyelashes, Cranial hyperostosis, Oligodontia, Sparse and thin eyebrow, Sparse ... OMIM:601345
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
Intellectual Developmental Disorder, Autosomal Dominant 23
Micrognathia, Smooth philtrum, Depressed nasal bridge, Long philtrum, Postaxial polydactyly, Broa... OMIM:615761
Chondrodysplasia Punctata 1, X-Linked Recessive
Abnormality of the vertebral column, Depressed nasal bridge, Epiphyseal stippling, Short nose, Sh... OMIM:302950
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal palate morphology, Micrognathia, Convex nasal ridge, Mesomelia, Tooth agenesis, Brachyda... ORPHA:1277
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Micrognathia, High palate, Depressed nasal bridge, Long philtrum, Short nose, Dee... ORPHA:261120
Rosaï-Dorfman Disease
Lymphadenopathy, Anemia, Osteolysis ORPHA:158014
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
Macrocephaly/Autism Syndrome
Hepatomegaly, Depressed nasal bridge, Long philtrum, Short nose, Splenomegaly, Lymphopenia OMIM:605309
Potocki-Shaffer Syndrome
Underdeveloped nasal alae, Micrognathia, Broad nasal tip, Short philtrum, Anemia, Prominent nasal... ORPHA:52022
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Aarskog-Scott Syndrome
Cleft palate, Long philtrum, Cleft upper lip, Abnormal vertebral segmentation and fusion, Small h... ORPHA:915
Anemia, Hypochromic Microcytic, With Iron Overload 1
Abnormality of the liver, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Immunodeficiency 33
Hypodontia, Delayed eruption of teeth, Conical tooth OMIM:300636
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Reduced bone mineral density, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia, Abnormality of the mouth OMIM:162800
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Rickets, Failure to thrive, Delayed epiphyseal ossification, Recurrent fracture... OMIM:241530
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Fetal Akinesia Deformation Sequence 4
Micrognathia, High palate, Rocker bottom foot, Arthrogryposis multiplex congenita, Kyphosis, Retr... OMIM:618393
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Dental enamel pits, ... OMIM:616221
Ameloonychohypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Marked delay in eruption of permanent teeth, Hypocalcifi... OMIM:104570
Sandhoff Disease
Hepatomegaly, Kyphosis, Splenomegaly ORPHA:796
Andersen Cardiodysrhythmic Periodic Paralysis
Cleft palate, Oligodontia, Short metatarsal, Malar flattening, Clinodactyly of the 5th toe, Bulbo... OMIM:170390
Cholestasis, Progressive Familial Intrahepatic, 1
Failure to thrive, Splenomegaly, Osteopenia, Rickets OMIM:211600
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Long philtrum, Macroglossia, Wide nasal base, Delayed eruption of teeth, Clinodactyl... OMIM:616354
Lipoid Proteinosis
Thick lower lip vermilion, High palate, Tongue nodules, Abnormality of the gingiva, Microglossia,... ORPHA:530
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Osteomalacia, Sp... OMIM:300554
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Depressed nasal bridge, Diaphyseal sclerosis, Delayed... ORPHA:94089
Zimmermann-Laband Syndrome 3
Thick lower lip vermilion, High palate, Triphalangeal thumb, Broad nasal tip, Gingival overgrowth... OMIM:618658
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphology, Increased bone mineral d... ORPHA:289176
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Oligodontia, Short nose, Hypoplasia... ORPHA:363417
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Lymphadenitis, Abnormally low T cell receptor excisio... OMIM:618986
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Depressed nasal bridge, Wide mouth, Ascites, Long philtrum, Short nose, Kyphosis, H... OMIM:608776
Raine Syndrome
Cleft palate, Short nose, Malar flattening, Long hallux, Increased bone mineral density, Choanal ... OMIM:259775
Shashi-Pena Syndrome
Broad nasal tip, Osteoporosis, Kyphosis, Retrognathia, Scoliosis OMIM:617190
Ciliary Dyskinesia With Excessively Long Cilia
Abnormal respiratory motile cilium morphology, Sinusitis, Recurrent bronchitis, Chronic rhinitis,... OMIM:242680
Rothmund-Thomson Syndrome Type 2
Carious teeth, Cleft palate, Neutropenia, Genu varum, Leukemia, Abnormal dental enamel morphology... ORPHA:221016
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Anemia, Congenital hip dislocation, Delayed eruption of teeth OMIM:614450
Aplasia Cutis Congenita
Abnormality of bone mineral density ORPHA:1114
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Delayed eruption... ORPHA:508542
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Recurrent fractures, Osteoporosis, Increased bone mineral density OMIM:239000
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular tarsal ossification, Epiphyseal dysplasia, Hip subluxation, Carpal bone hypoplasia, Con... OMIM:226980
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Spondyloepiphyseal Dysplasia, Nishimura Type
Cone-shaped epiphysis, Short nose, Small hand, Delayed epiphyseal ossification, Osteoarthritis, B... OMIM:618618
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Short philtrum, Nail dystrophy, Hypohidrosis, Hypoplastic sweat glands, Natal tooth OMIM:617337
3M Syndrome
Abnormal dental enamel morphology, Delayed eruption of teeth, Bulbous nose, Anteverted nares, Hyp... ORPHA:2616
Carpenter Syndrome 1
Genu varum, Malar flattening, Joint contracture of the hand, Deviation of finger, Shallow acetabu... OMIM:201000
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Hypodontia, Delayed eruption of teeth, Abnormal eyebrow morphology, Generalized hirsutism, Decrea... ORPHA:1816
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture OMIM:179800
Pierpont Syndrome
Widely spaced teeth, Smooth philtrum, Broad nasal tip, Long upper lip, Short finger, Wide nose, S... OMIM:602342
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Median cleft lip, High palate, Nasal polyposis, Bifid uvula OMIM:155145
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Short philtrum, Wide mouth, Mandibular prognathia, Short nose, Kyphosis, Everted lower lip vermil... ORPHA:2429
Mucopolysaccharidosis Type 4
Carious teeth, Spinal canal stenosis, Wide mouth, Abnormality of epiphysis morphology, Bowing of ... ORPHA:582
Chromosome 16P13.3 Duplication Syndrome
Tapered finger, Long fingers, Short nose, Malar flattening, Proximal placement of thumb, Hip disl... OMIM:613458
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Cyclic Neutropenia
Sinusitis, Premature loss of permanent teeth, Peritonitis, Lymphadenopathy, Periodontitis, Perian... ORPHA:2686
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Abnormal bone structure, Coarse metaphyseal trabecularization, Recurrent fractures, Os... ORPHA:93160
Terminal Osseous Dysplasia
Cleft palate, Mesomelic leg shortening, Abnormal hand bone ossification, Mesomelic arm shortening... OMIM:300244
Shaheen Syndrome
Carious teeth, Enamel hypoplasia, Hypohidrosis OMIM:615328
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Micrognathia, High palate, Anodontia, Kyphoscoliosis, Supernumerary tooth, Wide nasal base, Delay... OMIM:264475
Mesomelic Limb Shortening And Bowing
Micrognathia, Cleft palate, Mesomelic leg shortening, Bowing of the legs, Mesomelic arm shortenin... OMIM:249710
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger, Overlapping toe OMIM:618453
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Congenital Disorder Of Glycosylation, Type Iig
Micrognathia, Cleft palate, Smooth philtrum, Pierre-Robin sequence, High palate, Butterfly verteb... OMIM:611209
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Congenital bilateral hip dislocation, Increased susceptibility to fractures, Malar flattening, Os... OMIM:130060
Hepatomegaly, Abnormal oral cavity morphology, Leukopenia, Lymphadenopathy, Rhinitis, Anemia, Spl... ORPHA:507
Ciliary Dyskinesia, Primary, 5
Sinusitis, Recurrent bronchitis, Rhinitis, Nasal polyposis, Recurrent sinusitis OMIM:608647
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Broad ischia, Increased intervertebral space, Short nose, Cervical spi... ORPHA:508533
Marshall-Smith Syndrome
Increased susceptibility to fractures, Craniosynostosis, Gingival overgrowth, Bowing of the long ... ORPHA:561
Micrognathia, Long philtrum, Abnormality of bone mineral density, Short nose, Anteverted nares, S... ORPHA:932
Tetrasomy 12P
Long philtrum, Thick upper lip vermilion, Delayed eruption of teeth, Abnormal soft palate morphol... ORPHA:884
Otopalatodigital Syndrome Type 2
Cleft palate, Pierre-Robin sequence, Oligodontia, Short nose, Malar flattening, Increased bone mi... ORPHA:90652
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Short nose, Thick upper lip ve... OMIM:612563
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Osteomalacia, Tooth abscess, Rickets ORPHA:89937
Acrocraniofacial Dysostosis
Abnormality of the vertebral column, Metatarsus adductus, Micrognathia, Cleft palate, Short philt... OMIM:201050
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Osteosclerosis of the base of the skull, Subperiosteal bone formation OMIM:609993
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Hypodontia, Delayed eruption of teeth, Amelogenesis imperfecta OMIM:615905
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Syndactyly, Poikilocytosis, Reticulocytosis, P... OMIM:224120
Hepatomegaly, Hepatitis, Abnormal hemoglobin, Cholelithiasis, Anemia, Splenomegaly, Reduced bone ... ORPHA:848
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Arthritis, Splenomegaly, Recurrent aphthous stomatitis OMIM:611762
Achondrogenesis Type 1A
Micrognathia, Long philtrum, Short nose, Recurrent fractures, Short foot, Short palm, Anteverted ... ORPHA:93299
Sponastrime Dysplasia
Neutropenia, Metaphyseal irregularity, Short nose, Obtuse angle of mandible, Short dental root, S... ORPHA:93357
Pitt-Hopkins Syndrome
Abnormal palate morphology, Short philtrum, Wide mouth, Failure of eruption of permanent teeth, T... ORPHA:2896
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Chronic rhinitis, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Stickler Syndrome Type 1
Cleft palate, Long philtrum, Abnormality of epiphysis morphology, Short nose, Platyspondyly, Join... ORPHA:90653
Craniolenticulosutural Dysplasia
Carious teeth, Posterior wedging of vertebral bodies, Smooth philtrum, High palate, Microdontia, ... ORPHA:50814
Microcephalic Primordial Dwarfism, Toriello Type
Micrognathia, Short middle phalanx of finger, Neutropenia, Radial deviation of finger, Short foot... OMIM:251190
Rothmund-Thomson Syndrome
Carious teeth, Neutropenia, Leukemia, Aplasia/Hypoplasia of the radius, Abnormal dental enamel mo... ORPHA:2909
Rhizomelic Syndrome, Urbach Type
Micrognathia, High palate, Cleft palate, Triphalangeal thumb, Depressed nasal bridge, Abnormality... ORPHA:3098
Distal Trisomy 18Q
Carious teeth, Micrognathia, High palate, Short nose, Progressive intervertebral space narrowing,... ORPHA:1716
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Widely spaced teeth, Hepatomegaly, High palate, Hepatic fibrosis, Microdontia, Wide mouth, Macrog... OMIM:266920
Baker-Gordon Syndrome
Prominent nasal tip, Smooth philtrum, Short nose, Thin upper lip vermilion, Scoliosis, Joint laxity OMIM:618218
Spastic Paraplegia 18, Autosomal Recessive
High palate, Scoliosis, Kyphosis OMIM:611225
Congenital Atransferrinemia
Anemia, Arthritis, Abnormality of the pancreas ORPHA:1195
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Micrognathia, Flexion contracture of toe, Abnormality of epiphysis morphology, Ab... ORPHA:3409
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Anterior open-bite malocclusi... OMIM:204650
Melnick-Needles Syndrome
Micrognathia, Short clavicles, Abnormality of the pubic bone, Bowing of the long bones, Tooth mal... ORPHA:2484
Amelogenesis Imperfecta, Type Iiic
Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion, Hypocalcification of de... OMIM:618386
Odontomicronychial Dysplasia
Premature loss of primary teeth, Abnormality of the dentition, Short nail, Premature eruption of ... ORPHA:1811
Shwachman-Diamond Syndrome
Carious teeth, Sinusitis, Neutropenia, Pancreatic hypoplasia, Leukemia, Metaphyseal irregularity,... ORPHA:811
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Ciliary Dyskinesia, Primary, 22
Sinusitis, Rhinitis, Absent inner and outer dynein arms, Nasal polyposis, Recurrent sinusitis OMIM:615444
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Cleft palate, Wide mouth, U-Shaped upper lip vermilion, Tapered finger, Short finger... OMIM:300209
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Abnormal oral cavity morphology, Depressed nasal ridge, Short nose, Narrow mouth, Anteverted nares ORPHA:1355
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Intervertebral space narrowing, Broad tibial metaphyses, I... OMIM:271630
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Depressed nasal bridge, Short nose, Retrognathia, Anteverted nares OMIM:614069
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Sclerotic scapulae, Absen... OMIM:601376
Ophthalmomandibulomelic Dysplasia
Abnormality of bone mineral density, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of the... ORPHA:2741
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Clark-Baraitser syndrome
Thick lower lip vermilion, Broad nasal tip, Exaggerated median tongue furrow, Tapered finger, Max... OMIM:300602
Chst3-Related Skeletal Dysplasia
Irregular epiphyses, Intervertebral space narrowing, Small epiphyses, Long philtrum, Kyphoscolios... ORPHA:263463
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Felty Syndrome
Sinusitis, Hepatomegaly, Neutropenia, Synovitis, Lymphadenopathy, Rhinitis, Abnormal lymphocyte m... ORPHA:47612
Pde4D Haploinsufficiency Syndrome
Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Short nose, Malar flatt... ORPHA:439822
X-Linked Hypophosphatemia
Genu varum, Rickets, Reduced bone mineral density, Odontodysplasia, Bowing of the legs, Flared il... ORPHA:89936
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Tibial bowing, Thin bony cortex, Fibular bowing, Subperiosteal bone resorption, Ri... OMIM:277440
Ciliary Dyskinesia, Primary, 35
Chronic rhinitis, Nasal polyposis, Chronic sinusitis OMIM:617092
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Depressed nasal ridge, Micrognathia, Ascites, Anemia, Thin vermilion border, Sandal gap, Splenome... ORPHA:1046
Hurler Syndrome
C1-C2 subluxation, Splenomegaly, Hepatosplenomegaly, Anteverted nares, Calvarial hyperostosis, En... OMIM:607014
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Micrognathia, Long philtrum, Short nose, Wide nasal bridge, Clinodactyly, Unilambdoid synostosis,... OMIM:618577
Coffin-Lowry Syndrome
Abnormal form of the vertebral bodies, Delayed eruption of teeth, Brachydactyly, Anteverted nares... ORPHA:192
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Cleft palate, Craniosynostosis, Wide nasal bridge, Delayed eruption of teeth, Osteo... ORPHA:2314
Three M Syndrome 2
Prominent nasal tip, High palate, Depressed nasal bridge, Long philtrum, Malar flattening, Promin... OMIM:612921
Pfapa Syndrome
Hepatomegaly, Abnormal oral cavity morphology, Lymphadenopathy, Arthritis, Splenomegaly, Recurren... ORPHA:42642
Specific Granule Deficiency 2
Neutropenia, Absent neutrophil specific granules, Tooth malposition, Anemia, Amelogenesis imperfe... OMIM:617475
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypomineralization, Enamel hypoplasia, Amelogenesis imperfecta OMIM:614832
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Ciliary Dyskinesia, Primary, 42
Chronic rhinitis, Nasal polyposis, Recurrent sinusitis OMIM:618695
Hepatomegaly, Leukopenia, Clinodactyly of the 5th toe, Splenomegaly, Hepatic failure, Limitation ... ORPHA:108
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality of the pancreas, Abnormali... ORPHA:543
Acrocraniofacial Dysostosis
Cleft palate, Triphalangeal thumb, Abnormal form of the vertebral bodies, Short 1st metacarpal, A... ORPHA:949
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Oligodontia, Tapered finger, Wide nose, Kyphosis, Everted lower lip vermilion, Scoliosis, Anodontia ORPHA:276630
Sialidosis Type 2
Hepatomegaly, Ascites, Osteoporosis, Kyphosis, Splenomegaly, Flexion contracture ORPHA:87876
Elsahy-Waters Syndrome
Thick lower lip vermilion, Abnormality of the vertebral column, High palate, Long philtrum, Mandi... OMIM:211380
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Verheij Syndrome
Vertebral fusion, Hemivertebrae, Long philtrum, Short nose, Wide nasal bridge, Clinodactyly, Shor... OMIM:615583
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Laron Syndrome
Depressed nasal ridge, Micrognathia, Microdontia, Delayed eruption of teeth, Aplasia/Hypoplasia i... ORPHA:633
Ring Chromosome 8 Syndrome
Deviation of finger, Abnormal palate morphology, Short nose, Anteverted nares ORPHA:1450
Dyssegmental Dysplasia With Glaucoma
Cleft palate, Broad long bones, Hip contracture, Malar flattening, Delayed epiphyseal ossificatio... OMIM:601561
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Rickets, Failure to thrive, Delayed epiphyseal ossification, Recurrent fracture... OMIM:264700
Lymphoproliferative Syndrome 3
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Farber Lipogranulomatosis
Hepatomegaly, Osteolysis involving bones of the feet, Arthritis, Splenomegaly, Lipogranulomatosis... OMIM:228000
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Micrognathia, Convex nasal ridge, Abnormal reticulocyte morphology, Kyphosis, Fused cervical vert... ORPHA:2522
Bare Lymphocyte Syndrome, Type I
Chronic sinusitis, Nasal polyposis, Recurrent bronchitis OMIM:604571
Achondrogenesis Type 1B
Micrognathia, Long philtrum, Short nose, Short foot, Anteverted nares, Short neck, Abnormal encho... ORPHA:93298
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Depressed nasal ridge, Metaphyseal dysplasia, Abnormality of femur morphology, Abno... ORPHA:1842
Hepatomegaly, Micrognathia, Adducted thumb, Long fingers, Abnormality of finger, Hepatosplenomega... ORPHA:79333
Smith-Mccort Dysplasia 1
Irregular epiphyses, Hypoplastic facial bones, Genu varum, Hypoplastic scapulae, Beaking of verte... OMIM:607326
Bruck Syndrome 1
Ankle flexion contracture, Hip contracture, Vertebral wedging, Increased susceptibility to fractu... OMIM:259450
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Gamma-Heavy Chain Disease
Neoplasm of the tongue, Hepatomegaly, Abnormal palate morphology, Lymphadenopathy, Abnormal lymph... ORPHA:100026
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly