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
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Increased bone mineral density OMIM:166450
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Osteopetrosis, Torus palatinus, Generalized osteosclerosis, Calvarial osteoscler... OMIM:607634
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Mandibular osteomyelitis, Osteomyelitis, Persistence... OMIM:259710
Increased bone mineral density OMIM:265880
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Dentin Dysplasia
Abnormality of dental morphology, Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Abnormality of the third metatarsal bone, Sclerosis of foot bone, Thickened cort... ORPHA:564003
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytos... OMIM:611490
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia, Thrombocytopenia OMIM:615085
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Curved distal p... ORPHA:3152
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Joint stiffness, Failure to thrive, Increased bone mineral density, Arthritis, Hyperostosis, Ecto... ORPHA:2485
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Coxa vara, Osteomyelitis, Hepatomegaly, Increased bone m... OMIM:259700
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Crowded maxillary incisors, Multiple unerupted teeth OMIM:183300
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Abnormality of tibia mo... ORPHA:1802
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... OMIM:166740
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Eruption failure, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Multiple non-erupting... OMIM:273050
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Isolated Osteopoikilosis
Joint stiffness, Abnormality of femur morphology, Abnormal bone ossification, Sclerosis of foot b... ORPHA:166119
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Fragmented, irregular ... ORPHA:566943
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Dental malocclusion, Cortical sclerosis, Osteomyelitis, ... ORPHA:210110
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Dense metaphyseal bands, Cortical sclerosis of the iliac wing, Erlenmeyer flask de... OMIM:611497
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... OMIM:600785
Eiken Syndrome
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... ORPHA:79106
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Ribbing Disease
Diaphyseal sclerosis OMIM:601477
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Splenomegaly, Abnormality of limb bone morphology, Limb undergrow... ORPHA:2204
Body Mass Index Quantitative Trait Locus 20
Obesity, Increased bone mineral density OMIM:618406
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
Osteosclerotic Metaphyseal Dysplasia
Metaphyseal dysplasia, Clavicular sclerosis OMIM:615198
Osteopetrosis, Autosomal Recessive 3
Dental malocclusion, Diaphyseal sclerosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatospl... OMIM:259730
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Osteoglosphonic Dysplasia
Tooth agenesis, Abnormal bone ossification, Craniosynostosis, Micrognathia, Scoliosis, Abnormal f... ORPHA:2645
Immunodeficiency 13
Lymphopenia, Recurrent upper respiratory tract infections, B lymphocytopenia, T lymphocytopenia, ... OMIM:615518
Pyle Disease
Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios... OMIM:265900
Mazabraud Syndrome
Recurrent fractures, Fibrous dysplasia of the bones ORPHA:57782
Flynn-Aird Syndrome
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... OMIM:136300
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia ORPHA:46532
Eiken Syndrome
Short philtrum, Multiple unerupted teeth, Thick lower lip vermilion, Eruption failure, Long hallu... OMIM:600002
Osteopathia Striata-Cranial Sclerosis Syndrome
Large iliac wing, High, narrow palate, Cleft palate, Increased bone mineral density, Retrognathia... ORPHA:2780
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly, Enlarged epiphyses, Obesity OMIM:264010
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... ORPHA:2114
Craniometaphyseal Dysplasia
Osteopetrosis, Depressed nasal bridge, Wide nasal bridge, Abnormal metaphysis morphology, Craniof... ORPHA:1522
Hypertrichosis Lanuginosa Congenita
Gingival overgrowth, Generalized hirsutism, Thick eyebrow, Abnormality of the dentition, Delayed ... ORPHA:2222
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Dentinogenesis Imperfecta
Persistence of primary teeth, Fragile teeth, Joint hypermobility, Generalized hypoplasia of denta... ORPHA:49042
Osteopetrosis, Autosomal Recessive 5
Gingival overgrowth, Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Ex... OMIM:259720
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Bowing of the long bones, Thickened co... ORPHA:53697
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density, Leukopenia, Diaphy... OMIM:231095
Lethal Recessive Chondrodysplasia
Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbow metaphyses, Short long bone ORPHA:1423
Otopalatodigital Syndrome, Type I
Cleft palate, Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Broad distal phalanx of... OMIM:311300
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Anemia, Lymp... ORPHA:37748
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Peroxisome Biogenesis Disorder 10A (Zellweger)
High palate, Hepatomegaly, Micrognathia, Prominent nose, Epiphyseal stippling OMIM:614882
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... ORPHA:90650
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Bulbous nose, Kyphosis, Clinodactyly of the 5th finger, Tooth malposition, D... ORPHA:2769
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Arthralgia ... ORPHA:93284
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Gingival overgrowth, Short clavicles, Bowing of the legs, Extra... ORPHA:313855
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... OMIM:617974
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Short lower limbs, Abnormal epip... ORPHA:2501
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Clinodactyly of the 5th finger, Reduced bone mineral density, Thin vermilion border... ORPHA:2370
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Hypodontia, Malar flattening, Maxillozygomatic hypoplasia, Delayed eruption of teeth, Alveolar pr... ORPHA:2972
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615269
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
High palate, Slender finger, Cleft palate, Depressed nasal bridge, Short neck, Platyspondyly, Ani... ORPHA:163649
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Flared metaphysis, Micromelia, Generalized osteosclerosis,... OMIM:215045
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:600081
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Depressed nasal... ORPHA:231214
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Gingival Fibromatosis-Progressive Deafness Syndrome
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth ORPHA:2027
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Cortical sclerosis, Diaphyseal sclerosis, Depressed nasal bridge, Cran... OMIM:122860
Fused Mandibular Incisors
Abnormality of the dentition, Advanced eruption of teeth ORPHA:2287
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Depressed nasal bridge, Anisocytosis, Abnormality of the denti... ORPHA:231226
Osteoglophonic Dysplasia
High palate, Broad phalanx, Craniosynostosis, Depressed nasal bridge, Short neck, Platyspondyly, ... OMIM:166250
Narrow mouth, Increased bone mineral density, Cleft palate, Splenomegaly, Retrognathia, Micrognat... ORPHA:35107
Narrow palate, Persistence of primary teeth, Hypodontia, Increased bone mineral density, Spondylo... OMIM:265800
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short philtrum, Platyspondyly, Cone-shaped epiphysis, Delayed eruption... ORPHA:71267
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis, Hepatomegaly, Splenomegaly OMIM:618541
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... OMIM:601376
High palate, Abnormality of the dentition, Carious teeth, Hypoplasia of the maxilla, Spondylolist... ORPHA:763
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Osteogenesis Imperfecta, Type Xiii
Dislocated radial head, Decreased body weight, Increased bone mineral density, Arachnodactyly, Os... OMIM:614856
Albers-Sch├Ânberg Osteopetrosis
Short distal phalanx of finger, Abnormal leukocyte morphology, Mandibular osteomyelitis, Osteomye... ORPHA:53
Rhizomelic Chondrodysplasia Punctata, Type 3
Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Gingival Fibromatosis-Hypertrichosis Syndrome
Gingival overgrowth, Hirsutism, Thick eyebrow, Generalized hirsutism, Abnormality of the dentitio... ORPHA:2026
Trisomy 9P
Kyphosis, Clinodactyly of the 5th finger, Abnormal nasal morphology, Impacted tooth, Short neck, ... ORPHA:236
Fibromatosis, Gingival, With Distinctive Facies
High palate, Persistence of primary teeth, Thick eyebrow, Everted lower lip vermilion, Gingival f... OMIM:228560
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... ORPHA:50811
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Hepatomegaly, Splenomegaly, Craniosynostosis, Osteopetrosis, Reduced bone mi... ORPHA:667
Diastrophic Dysplasia
Joint stiffness, Kyphosis, Increased bone mineral density, Cleft palate, Depressed nasal bridge, ... ORPHA:628
Ectodermal Dysplasia With Adrenal Cyst
Breast hypoplasia, Delayed eruption of teeth, Hypohidrosis, Hypoplastic nipples OMIM:129550
Tricho-Dento-Osseous Syndrome
Taurodontia, Increased bone mineral density, Abnormal hair quantity, Periapical tooth abscess, Mi... ORPHA:3352
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Amelo-Onycho-Hypohidrotic Syndrome
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... ORPHA:1028
Dysostosis, Stanescu Type
Abnormality of the dentition, Short neck, Carious teeth, Abnormal epiphysis morphology, Hypoplasi... ORPHA:1798
Hypophosphatemic Bone Disease
Bowing of the legs, Osteomalacia, Rickets OMIM:146350
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal bone ossification, Genu varum, Bowing of the long bones, Coarse metaphyseal trabeculariz... ORPHA:1952
Hypercholanemia, Familial 1
Failure to thrive, Rickets OMIM:607748
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis, Micrognathia OMIM:617306
Osteogenesis Imperfecta, Type Xii
High palate, Narrow mouth, Malar flattening, Depressed nasal bridge, Micrognathia, Scoliosis, Del... OMIM:613849
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Osteopetrosis, Abnormal trabecular bone morphology, Anemia, Femur fra... OMIM:612301
Cardiospondylocarpofacial Syndrome
High, narrow palate, Synostosis of carpal bones, Tooth malposition, Failure of eruption of perman... ORPHA:3238
Hypodontia-Dysplasia Of Nails Syndrome
Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Agenesis of permanent teet... ORPHA:2228
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, U-Shaped upper lip vermilion, Kyphosis, Metaphyseal dysplasia, Hyp... OMIM:234250
Gaucher Disease Type 1
Kyphosis, Hepatomegaly, Increased bone mineral density, Splenomegaly, Cirrhosis, Leukopenia, Oste... ORPHA:77259
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... ORPHA:824
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Thick eyebrow, Everted lower lip vermilion, Delayed eruption of... ORPHA:2025
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abnormal trabecular bone morphol... ORPHA:75508
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Osteoporosis, Osteolysis, Anemia, Lymphadenopathy ORPHA:100024
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Arthrogryposis multiplex congenita, Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Kyphoscoliosis, Metaphyseal dysplasia, Hepatomegaly, Malar flattening, Elev... OMIM:614727
17Q21.31 Microduplication Syndrome
High palate, Clinodactyly of the 5th finger, Malar flattening, Abnormality of the dentition, Shor... ORPHA:217340
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Depressed nasal bridge, Osteopenia, Platyspondyly, Delayed eruption of teeth, Tapere... OMIM:612350
Amelogenesis Imperfecta, Type Ij
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta OMIM:617297
Aredyld Syndrome
Narrow mouth, Craniofacial hyperostosis, Hepatomegaly, Splenomegaly, Abnormal nasal morphology, S... ORPHA:1133
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent bronchiolitis, Lymphad... OMIM:619164
Marbach-Rustad Progeroid Syndrome
Eruption failure, Narrow mouth, Convex nasal ridge, Hypodontia, Short clavicles, Reduced bone min... OMIM:619322
Dental malocclusion, Gingival overgrowth, Narrow palate, Hepatomegaly, Kyphosis, Macroglossia, Sp... ORPHA:61
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Anemia, Thromb... ORPHA:3319
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Frank-Ter Haar Syndrome
Wide mouth, Gingival overgrowth, Premature loss of teeth, Joint stiffness, Kyphosis, Beaking of v... ORPHA:137834
Acromesomelic Dysplasia, Maroteaux Type
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Depressed nasal bridge, Scoliosis, Abnorm... ORPHA:40
Lenz-Majewski Hyperostotic Dwarfism
Wide mouth, Elbow ankylosis, Cleft palate, Symphalangism affecting the phalanges of the hand, Abn... ORPHA:2658
Winchester Syndrome
Broad metacarpals, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteo... OMIM:277950
Weismann-Netter Syndrome
Kyphosis, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral b... OMIM:112350
Dentinogenesis imperfecta, Retrognathia, Depressed nasal bridge, Cone-shaped epiphysis, Platyspon... ORPHA:166272
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Cutaneous finger syn... ORPHA:1306
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Hepatomegaly, Narrow greate... OMIM:602557
Acromicric Dysplasia
Joint stiffness, Bulbous nose, Narrow mouth, Abnormality of femur morphology, Fifth metacarpal wi... ORPHA:969
Alveolar ridge overgrowth, Dental malocclusion, Narrow palate, Submandibular lymph node enlargeme... OMIM:118400
Greenberg Dysplasia
Abnormal leukocyte morphology, Abnormal bone ossification, Anterior rib punctate calcifications, ... ORPHA:1426
Osteopetrosis With Renal Tubular Acidosis
High palate, Recurrent fractures, Narrow mouth, Persistence of primary teeth, Tooth malposition, ... ORPHA:2785
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Recurrent fractures, Persistence of primary teeth, Craniosynostosis, Osteopenia, Eos... OMIM:147060
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing of the long bones OMIM:168400
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Cleft palate, Micrognathia, Short neck, Abnormal vertebral morphology, Short nose, Anteverted nar... ORPHA:2015
Spondylocarpotarsal Synostosis Syndrome
Cleft palate, Broad nasal tip, Short neck, Short nose, Block vertebrae, Vertebral segmentation de... OMIM:272460
Osteoporosis OMIM:166710
Neutropenia, Chronic Familial
Premature loss of teeth, Periodontitis, Gingivitis, Neutropenia, Clubbing of fingers, Clubbing OMIM:162700
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Oral ulcer, Lymphadenopathy OMIM:608971
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Kyphosis, Platyspondyly, Metaphyseal widening OMIM:618476
Epiphyseal Chondrodysplasia, Miura Type
Epiphyseal dysplasia, Long hallux, Arachnodactyly, Osteopenia, Finger clinodactyly, Broad hallux OMIM:615923
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
High palate, Kyphosis, Eruption failure, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Abno... ORPHA:476126
Gnathodiaphyseal Dysplasia
Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, Increased susceptibility to fractures, ... OMIM:166260
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:241530
Metatropic Dysplasia
Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Platyspondyly, Hyperplasia ... OMIM:156530
Majeed Syndrome
Metaphyseal irregularity, Failure to thrive, Osteomyelitis, Increased bone mineral density, Flexi... ORPHA:77297
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Kyphosis, Micrognathia, Long philtrum, Scoliosis, Short nose, Anemia ORPHA:2598
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hypodontia, Short 1st metacarpal, Delayed eruption of teeth, Hip osteoarthritis, Short middle pha... ORPHA:63442
X-Linked Hypohidrotic Ectodermal Dysplasia
Sparse hair, Everted lower lip vermilion, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, De... ORPHA:181
Abnormal dental enamel morphology, Recurrent fractures, Irregular vertebral endplates, Hypoplasti... ORPHA:1782
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Advanced... OMIM:618363
Proteus Syndrome
Lymphangioma, Splenomegaly, Calvarial hyperostosis, Depressed nasal bridge, Thin bony cortex, Ope... OMIM:176920
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... ORPHA:750
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:300554
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Osteopenia, Broad femoral neck, Thin bony cortex, Short tubular b... ORPHA:85184
Joint stiffness, Hypoplastic vertebral bodies, Hepatomegaly, Abnormally ossified vertebrae, Splen... ORPHA:2746
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Dental malocclusion, Vertebral clefting, Depressed nasal bridge, ... OMIM:155050
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate, Craniosynostosis OMIM:600252
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Sclerosis of skull base, Kyphosis, Hyperextensibility of the finger joints, Depr... OMIM:313420
Depressed nasal ridge, Hepatosplenomegaly, Short neck, Brachydactyly, Short nose, Short long bone ORPHA:221054
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Erlenmeyer flask deformity of the femurs, Osteopenia, Anemia, Thrombo... OMIM:610539
Codas Syndrome
Coronal cleft vertebrae, Short metacarpal, Depressed nasal bridge, Congenital hip dislocation, Sc... ORPHA:1458
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Ri... OMIM:146300
Maxillonasal Dysplasia
Short distal phalanx of finger, Tooth agenesis, Depressed nasal ridge, Cleft palate, Open bite, D... ORPHA:1248
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Depressed nasal bridge, Short 1st metacarpal, Short neck, Pla... OMIM:251450
Weismann-Netter Syndrome
Kyphosis, Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal h... ORPHA:3344
Ciliary Dyskinesia, Primary, 1
Chronic rhinitis, Anosmia, Chronic sinusitis, Recurrent bronchitis, Asplenia, Absent outer dynein... OMIM:244400
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Delayed eruption of teeth, Sma... OMIM:184260
High palate, Short sternum, Osteopenia, Platyspondyly, Delayed eruption of teeth, Sclerotic scapu... OMIM:224300
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Osteomalacia, Rickets OMIM:193100
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... ORPHA:822
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Abnormal salivary gland morphology ORPHA:482
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped epiphysis, D... ORPHA:950
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Tooth agenesis, Narrow palate, Cryptorchidism, Micrognathia, Multiple unerupted teeth, Abnormal p... ORPHA:2063
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:264700
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, C... OMIM:612714
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Tyrosinemia Type 1
Rickets of the lower limbs, Splenomegaly ORPHA:882
Roifman Syndrome
Epiphyseal dysplasia, Short toe, Clinodactyly of the 5th finger, Hip contracture, Delayed proxima... ORPHA:353298
Gapo Syndrome
Eruption failure, Wide anterior fontanel, Hepatomegaly, High, narrow palate, Depressed nasal brid... OMIM:230740
Depressed nasal bridge, Short neck, Brachydactyly, Osteoporosis, Delayed eruption of teeth, Ename... OMIM:612463
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing of the legs, Trapezoida... OMIM:307800
Metatropic Dysplasia
Joint stiffness, Kyphosis, Halberd-shaped pelvis, Coarse metaphyseal trabecularization, Clinodact... ORPHA:2635
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Sparse scalp hair, Tooth agenesis, Alopecia, Short philtrum, Delayed eruption of teeth, Mandibula... ORPHA:2325
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Delayed eru... OMIM:619489
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Decreased hip abduction, Proximal humeral metaphyseal irregulari... OMIM:183849
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Abnormality of the gallbladder, Abnormality of the nose, Biliary tra... ORPHA:2869
Roifman Syndrome
Hip contracture, Short toe, Clinodactyly of the 5th finger, Hepatomegaly, Splenomegaly, Eosinophi... OMIM:616651
Primary Ciliary Dyskinesia
Chronic rhinitis, Nasal congestion, Chronic sinusitis, Polysplenia, Nasal polyposis, Asplenia, Cl... ORPHA:244
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Epidermolysis Bullosa, Junctional 1A, Intermediate
Oral mucosal blisters, Hypodontia, Patchy alopecia, Camptodactyly of finger, Carious teeth, Ename... OMIM:226650
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Tibial bowing, Coxa vara,... ORPHA:289176
Osteopetrosis, Autosomal Dominant 3
Premature loss of teeth, Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopenia, Gingivitis,... OMIM:618107
Mental Retardation, X-Linked 91
High palate, Small hand, Short 5th finger, Macrodontia, Short nose, Short foot, Clinodactyly OMIM:300577
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair, Advanced eruption of teeth ORPHA:2266
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Lymphopenia, Recurrent upper respiratory tract infections, B lymphocytopenia, Absence ... ORPHA:277
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Malar flattening, Depressed nasal ridge, Short tibia, Micromelia, Short 3rd metacarpal, Limb unde... OMIM:118651
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Myelofibrosis, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia,... OMIM:301078
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Beemer-Ertbruggen Syndrome
Bulbous nose, Increased bone mineral density, Micrognathia, Deep philtrum, Thrombocytopenia, Wide... ORPHA:1237
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Extramedullary hematopoiesis, Cholestasis, E... ORPHA:79303
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Abnormal hip bone morphology, Osteomalacia, Genu varum, Abnormal ... ORPHA:93160
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, Absence of lymph node germinal center, T lymp... OMIM:619924
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Hemifacial Atrophy, Progressive
Dental malocclusion, Patchy alopecia, Short mandibular rami, Poliosis, Delayed eruption of teeth,... OMIM:141300
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Increased intervertebral space, Depressed nasal bridge, Metaphyseal ... OMIM:618961
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Craniometaphyseal Dysplasia, Autosomal Recessive
Metaphyseal dysplasia, Bony paranasal bossing, Patchy sclerosis of finger phalanx, Flared metaphy... OMIM:218400
Premature Aging Syndrome, Penttinen Type
Thin vermilion border, Micrognathia, Osteopenia, Narrow nose, Delayed eruption of teeth, Scoliosi... OMIM:601812
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... OMIM:615559
Cernunnos-Xlf Deficiency
Bulbous nose, Lymphopenia, Convex nasal ridge, B lymphocytopenia, T lymphocytopenia, Anemia, Thro... ORPHA:169079
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Hepatomegaly, Scoliosis, Macrovesicular hepatic steatosis, Osteoporosis OMIM:618234
Camurati-Engelmann Disease
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Diaphyseal sclerosis, Increa... OMIM:131300
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Cleidocranial Dysplasia
Cleft palate, Depressed nasal bridge, Abnormality of the dentition, Down-sloping shoulders, Delay... ORPHA:1452
Cleidocranial Dysplasia 1
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Depressed nasal br... OMIM:119600
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Wide nose, Short nose, Long philtrum OMIM:125700
Brachydactyly, Type E1
Short clavicles, Brachydactyly, Type E brachydactyly, Multiple impacted teeth, Short metatarsal, ... OMIM:113300
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Bulbous nose, Depressed nasal bridge, Abnormality of the dentition, Osteopenia, Platyspondyly, Bi... OMIM:271510
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Reduced bone mineral density, Foot acroosteolysis, Tapered finger, ... ORPHA:970
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Recurrent aphthous stoma... OMIM:150550
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Rickets OMIM:602722
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Dentinogenesis imperfecta, Upper limb undergrowth, Pathologic fracture, Short f... ORPHA:166277
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Craniometadiaphyseal Dysplasia
High palate, Sclerosis of skull base, Broad long bones, Wide anterior fontanel, Malar flattening,... OMIM:269300
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Failure to thrive, Increased bone mineral density, Osteopenia, Short humerus... OMIM:239000
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:277440
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose, Microretrognathia, Long philtrum OMIM:218010
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Syndactyly, Po... OMIM:615631
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Chondrodysplasia With Joint Dislocations, Gpapp Type
Narrow mouth, Short toe, Cleft palate, Coronal craniosynostosis, Micrognathia, Brachydactyly, Sho... OMIM:614078
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Reduced bone mineral density, Interphalangeal joint erosions, Osteopenia, Abnormality of limb bon... ORPHA:85435
Ck Syndrome
High palate, Kyphosis, Malar flattening, Retrognathia, Micrognathia, Scoliosis, Hyperlordosis, Ab... OMIM:300831
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Glossoptosis, Elevated circulating aspartate aminotransferase concentration, Jaundi... OMIM:614876
Mucopolysaccharidosis, Type Ivb
Wide mouth, Pointed proximal second through fifth metacarpals, Hepatomegaly, Platyspondyly, Cario... OMIM:253010
Aplasia Cutis Congenita
Finger syndactyly, Abnormality of bone mineral density, Toe syndactyly ORPHA:1114
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Depressed nasal brid... ORPHA:457395
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hy... OMIM:209950
Ramon Syndrome
Generalized hirsutism, Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Osteolysi... ORPHA:3019
Fibrodysplasia Ossificans Progressiva
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hallux, Spinal rigidit... ORPHA:337
Temple-Baraitser Syndrome
High palate, Wide mouth, Depressed nasal bridge, Short phalanx of the thumb, Delayed eruption of ... ORPHA:420561
Hall-Riggs Syndrome
Abnormal dental enamel morphology, Wide mouth, Joint stiffness, Platyspondyly, Scoliosis, Delayed... ORPHA:2107
Neonatal Severe Primary Hyperparathyroidism
Recurrent fractures, Hepatomegaly, Abnormal metaphysis morphology, Splenomegaly ORPHA:417
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Oral ulcer, Lymphadenopathy OMIM:618852
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Recurrent upper respiratory tract infections,... OMIM:613101
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Failure to thrive, Hepatosplenomegaly, Hemolytic anemia, Retic... OMIM:611590
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Non-Distal Trisomy 10Q
High palate, Convex nasal ridge, Everted lower lip vermilion, Depressed nasal bridge, Micrognathi... ORPHA:1695
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Recurrent sinusitis, Decr... OMIM:300853
Elsahy-Waters Syndrome
High palate, Bulbous nose, Impacted tooth, Delayed eruption of teeth, Hypoplasia of the maxilla, ... OMIM:211380
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Microdontia, Delayed eruption of teeth, Carious teeth, Coxa magna, Flat capital femor... OMIM:190350
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Cutaneous finger synda... OMIM:113000
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Camurati-Engelmann Disease
Abnormality of femur morphology, Hepatomegaly, Abnormality of the humerus, Delayed eruption of te... ORPHA:1328
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Malar flattening, Craniosynostosis, Depressed nasal bridge, Osteopenia, Short ne... OMIM:616723
X-Linked Hypophosphatemia
Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, En... ORPHA:89936
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Dental malocclusion, Narrow mouth, Short distal phalanx of finger, Short toe, Open b... ORPHA:1327
Infantile Sialic Acid Storage Disease
High palate, Metaphyseal irregularity, Gingival overgrowth, Hepatomegaly, Vacuolated lymphocytes,... OMIM:269920
Cerebrooculofacioskeletal Syndrome 1
Kyphoscoliosis, Coxa valga, Joint contracture of the hand, Flexion contracture, Thin vermilion bo... OMIM:214150
Pai Syndrome
Cleft palate, Depressed nasal bridge, Bifid uvula, Abnormal oral frenulum morphology, Median clef... ORPHA:1993
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Micromelia OMIM:273680
Ollier Disease
Joint stiffness, Lymphangioma, Platyspondyly, Osteolysis, Abnormal cartilage morphology, Multiple... ORPHA:296
Anemia, Neutropenia, Splenomegaly OMIM:602079
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased B cell count, Clubbing of fingers, Lymphadenopathy, Increased propo... OMIM:618982
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Premature osteoarthritis, Limb joint contr... ORPHA:93314
Mucopolysaccharidosis, Type Iva
Wide mouth, Pointed proximal second through fifth metacarpals, Hepatomegaly, Anterior beaking of ... OMIM:253000
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Bowing of the legs, Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal... OMIM:112250
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
High palate, Lymphopenia, Persistence of primary teeth, Supernumerary tooth, Talipes equinovarus,... OMIM:619752
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Ophthalmomandibulomelic Dysplasia
Lateral humeral condyle aplasia, Camptodactyly of finger, Synostosis of carpal bones, Micromelia,... ORPHA:2741
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Tooth agenesis, Cryptorchidism, Micrognathia, Camptodactyly of finger, Delayed erupt... ORPHA:2863
Developmental And Epileptic Encephalopathy 73
Flexion contracture, Scoliosis, Narrow nasal bridge, Short nose, Hip dysplasia OMIM:618379
Autosomal Dominant Hypophosphatemic Rickets
Bowing of the legs, Osteomalacia, Iron deficiency anemia, Tooth abscess, Rickets ORPHA:89937
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Dent Disease 1
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul... OMIM:300009
Agammaglobulinemia 8B, Autosomal Recessive
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, Anemia, B Acute Lym... OMIM:619824
Craniometaphyseal Dysplasia, Autosomal Dominant
Sclerosis of skull base, Tooth malposition, Bony paranasal bossing, Erlenmeyer flask deformity of... OMIM:123000
Multicentric Osteolysis, Nodulosis, And Arthropathy
Bulbous nose, Osteopenia, Delayed eruption of teeth, Thin bony cortex, C1-C2 subluxation, Thin me... OMIM:259600
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Osteoporosis, Biliary tract abnormality, Elevated hepatic ... ORPHA:79301
Catifa Syndrome
Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Camptodactyly, Cleft l... OMIM:618761
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets OMIM:613388
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Sinusitis, Nasal polyposis, Arthritis ORPHA:183
Teeth Present At Birth
Natal tooth OMIM:187050
12Q14 Microdeletion Syndrome
Clinodactyly of the 5th finger, Hypodontia, Thin vermilion border, Abnormality of the nares, Micr... ORPHA:94063
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Kerion Celsi
Lymphadenopathy, Recurrent cutaneous abscess formation ORPHA:499
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Osteoporosis, Mastocytosis, Increased ... ORPHA:98848
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Subperiosteal bone resorption, Tibial bo... ORPHA:289157
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Hyperphosphatasia With Mental Retardation Syndrome 6
High palate, Hip contracture, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Shortening of a... OMIM:616809
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Potocki-Shaffer Syndrome
Broad nasal tip, Depressed nasal tip, Short philtrum, Micrognathia, Decreased skull ossification,... ORPHA:52022
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... OMIM:618534
Lethal Osteosclerotic Bone Dysplasia
Gingival overgrowth, Depressed nasal ridge, Retrognathia, Micrognathia, Short neck, Gingival fibr... ORPHA:1832
Blomstrand Lethal Chondrodysplasia
Distal shortening of limbs, Metaphyseal cupping, Increased bone mineral density, Malar flattening... ORPHA:50945
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Toe clinodactyly, Everted lower lip vermilion, Depressed nasal bridge,... ORPHA:261120
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Abnormal ... ORPHA:2831
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Nasal polyposis, Oral melanotic macule, Biliary tract abnormality, Iron... OMIM:175200
Chondrodysplasia Punctata 1, X-Linked Recessive
Short distal phalanx of finger, Depressed nasal bridge, Abnormality of the vertebral column, Shor... OMIM:302950
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Convex nasal ridge, Micrognathia, Brachydactyly, Mesomelia, Abnormal shoulder mor... ORPHA:1277
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Osteolysis ORPHA:158014
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Osteosclerosis of the base of the skull, Subperiosteal bone formation OMIM:609993
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Epiphyseal stippling, Hepatomegaly, Wide nasal bridge OMIM:614870
Grant Syndrome
Open bite, Abnormality of the glenoid fossa, Micrognathia, Depressed nasal bridge, Joint hyperfle... ORPHA:2097
Macrocephaly/Autism Syndrome
Lymphopenia, Hepatomegaly, Splenomegaly, Depressed nasal bridge, Long philtrum, Short nose OMIM:605309
Renal Tubular Acidosis Iii
Osteomalacia, Rickets OMIM:267200
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver OMIM:206100
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Frontometaphyseal Dysplasia 1
High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er... OMIM:305620
Gorham-Stout Disease
Mandibular pain, Abnormality of femur morphology, Abnormality of finger, Lymphangioma, Abnormal b... ORPHA:73
Fanconi Renotubular Syndrome 3
Bowing of the legs, Rickets OMIM:615605
Osteogenesis Imperfecta, Type Xiv
Recurrent fractures, Osteopenia, Increased susceptibility to fractures, Femoral bowing OMIM:615066
Ciliary Dyskinesia With Excessively Long Cilia
Sinusitis, Chronic rhinitis, Abnormal respiratory motile cilium morphology, Recurrent bronchitis,... OMIM:242680
Intellectual Developmental Disorder, Autosomal Dominant 23
Dental crowding, Kyphosis, Bulbous nose, Postaxial polydactyly, Depressed nasal bridge, Micrognat... OMIM:615761
Sandhoff Disease
Kyphosis, Hepatomegaly, Splenomegaly ORPHA:796
Fetal Akinesia Deformation Sequence 4
High palate, Kyphosis, Flexion contracture, Retrognathia, Micrognathia, Short neck, Camptodactyly... OMIM:618393
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p... OMIM:301082
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Gingival overgrowth, Narrow mouth, Hepatomegaly, Sea-blue histiocytosis, Hypopla... OMIM:230600
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Dental crowding, Overjet, Hepatomegaly, Persistence of primary teeth, Hypodontia, Ev... OMIM:618342
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Sparse scalp hair, Hypodontia, Sparse eyebrow, Sparse eyelashes, Oligodontia, Natal tooth, Hypopl... OMIM:601345
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Reduced bone mineral density, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Yellow-brown discoloration of the teeth, Marked delay in erup... OMIM:104570
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Aarskog-Scott Syndrome
Cleft upper lip, Clinodactyly of the 5th finger, Finger syndactyly, Cleft palate, Everted lower l... ORPHA:915
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Failure to thrive, Rickets, Splenomegaly OMIM:211600
Lipoid Proteinosis
High palate, Abnormal oral mucosa morphology, Tongue nodules, Microglossia, Thick lower lip vermi... ORPHA:530
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Gingival overgrowth, Lymphopenia, Leukopenia, Short humerus, Brachydactyly, Delayed eruption of t... ORPHA:508542
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Lymphadenitis, He... OMIM:618986
Zimmermann-Laband Syndrome 3
High palate, Kyphosis, Gingival overgrowth, Short distal phalanx of finger, Long hallux, Absent d... OMIM:618658
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone mineral density, Depressed nasal bridge, Short neck, Delayed... ORPHA:94089
Carpenter Syndrome 1
High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Depressed nasal bridge, Shor... OMIM:201000
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteopenia, Osteoporosis OMIM:615270
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Wide mouth, Kyphosis, Everted lower lip vermilion, Short philtrum, Scoliosis, Short nose, Mandibu... ORPHA:2429
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Wide mouth, Dental crowding, Low hanging columella, Long philtrum, Delayed eruption ... OMIM:618825
Spinocerebellar Ataxia, Autosomal Recessive 20
High palate, Dental crowding, Macroglossia, Long philtrum, Delayed eruption of teeth, Scoliosis, ... OMIM:616354
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Coxoauricular Syndrome
Abnormality of femur morphology, Reduced bone mineral density, Micromelia, Abnormal pelvic girdle... ORPHA:1508
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Wide mouth, Kyphosis, Reduced bone mineral density, Abnormality of the den... ORPHA:582
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Camptodac... OMIM:249710
Hypothyroidism, Congenital, Nongoitrous, 6
Anemia, Congenital hip dislocation, Delayed eruption of teeth, Macroglossia OMIM:614450
Teebi Hypertelorism Syndrome 2
High palate, Wide anterior fontanel, Clinodactyly of the 5th finger, Cleft palate, Everted lower ... OMIM:619736
Robinow Syndrome, Autosomal Dominant 2
Wide mouth, Triangular mouth, Cleft palate, Depressed nasal bridge, Abnormality of the dentition,... OMIM:616331
Rothmund-Thomson Syndrome Type 2
High palate, Cleft palate, Metaphyseal sclerosis, Long nose, Abnormality of the dentition, Osteop... ORPHA:221016
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Malar flattening, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint la... OMIM:130060
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Nasal polyposis, Bifid uvula, Median cleft lip OMIM:155145
Congenital Disorder Of Glycosylation, Type Il
Wide mouth, Kyphosis, Hepatomegaly, Depressed nasal bridge, Hepatosplenomegaly, Short neck, Long ... OMIM:608776
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Osteoarthritis, Cone-shaped epiphysis, Brachydactyly... OMIM:618618
Cyclic Neutropenia
Periodontitis, Sinusitis, Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonit... ORPHA:2686
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... ORPHA:363417
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Short philtrum, Hypohidrosis, Nail dystrophy, Natal tooth, Hypoplastic sweat glands OMIM:617337
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Abnormal eyebrow morphology, Generalized hirsutism, Hypodontia, Delayed eruption of teeth, Decrea... ORPHA:1816
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
3M Syndrome
Bulbous nose, Short neck, Congenital hip dislocation, Delayed eruption of teeth, Hypoplasia of th... ORPHA:2616
Pierpont Syndrome
Short toe, Prominent median palatal raphe, Long upper lip, Everted lower lip vermilion, Thin verm... OMIM:602342
Shashi-Pena Syndrome
Kyphosis, Retrognathia, Broad nasal tip, Scoliosis, Osteoporosis OMIM:617190
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Caffey Disease
Cortical irregularity, Cortical thickening of long bone diaphyses, Periosteal thickening of long ... ORPHA:1310
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Short toe, Malar flattening, Short phalanx of finger, Tapered finger, Camptodactyly... OMIM:613458
Marshall-Smith Syndrome
Gingival overgrowth, Craniosynostosis, Retrognathia, Reduced bone mineral density, Scoliosis, Sle... ORPHA:561
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Overlapping toe, Clinodactyly of the 5th finger, Camptodactyly, Short thumb OMIM:618453
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
High palate, Irregular tarsal ossification, Cone-shaped epiphyses of the phalanges of the hand, H... OMIM:226980
Hepatomegaly, Abnormal oral cavity morphology, Rhinitis, Splenomegaly, Leukopenia, Abnormal macro... ORPHA:507
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Thick upper lip vermilion, Macrocytic anemia, Short nose, Neut... OMIM:612563
Pitt-Hopkins Syndrome
Abnormal palate morphology, Wide mouth, Tooth malposition, Failure of eruption of permanent teeth... ORPHA:2896
Shaheen Syndrome
Enamel hypoplasia, Hypohidrosis, Carious teeth OMIM:615328
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Splenomegaly, Arthritis, Recurrent aphthous stomatitis, Lymphadenopathy OMIM:611762
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Lymphopenia, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... OMIM:602450
Tetrasomy 12P
Thick upper lip vermilion, Sparse hair, Abnormal soft palate morphology, Everted lower lip vermil... ORPHA:884
Disorder Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Reduced bone mineral density, Thin vermilion border, Short philtrum, Short neck, Spina ... ORPHA:2983
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Amelogenesis imperfecta, Hypodontia OMIM:615905
Terminal Osseous Dysplasia
Mesomelic leg shortening, Short toe, Multiple joint contractures, Toe clinodactyly, Malar flatten... OMIM:300244
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Abnormal abdomen morphology, Anodontia, Dental malocclusion, Narrow palate, Supernum... OMIM:264475
Acrocraniofacial Dysostosis
Cleft palate, Craniosynostosis, Micrognathia, Short philtrum, Abnormality of the vertebral column... OMIM:201050
Micrognathia, Short neck, Long philtrum, Abnormality of bone mineral density, Short nose, Antever... ORPHA:932
Rhizomelic Syndrome, Urbach Type
High palate, Kyphosis, Abnormality of the tongue, Short distal phalanx of finger, Wide anterior f... ORPHA:3098
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... ORPHA:75564
Fibular Hemimelia
Craniosynostosis, Arthralgia of the hip, Thrombocytopenia, Abnormality of fibula morphology, Genu... ORPHA:93323
Congenital Disorder Of Glycosylation, Type Iig
High palate, Vertebral segmentation defect, Butterfly vertebrae, Cleft palate, Small hand, Left v... OMIM:611209
Immunodeficiency 33
Delayed eruption of teeth, Conical tooth, Hypodontia OMIM:300636
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... OMIM:619846
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Otopalatodigital Syndrome Type 2
Cleft palate, Depressed nasal bridge, Short nose, Bowing of the long bones, Carpal synostosis, In... ORPHA:90652
Ciliary Dyskinesia With Defective Radial Spokes
Chronic rhinitis, Sinusitis, Nasal polyposis, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Raine Syndrome
High palate, Wide mouth, Cleft palate, Depressed nasal bridge, Short neck, Microdontia, Short nos... OMIM:259775
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Bulbous nose, Hepatomegaly, Craniosynostosis, Long nose, Depressed nasal bridge, Short nose, Seve... ORPHA:508533
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Wide mouth, U-Shaped upper lip vermilion, Cleft palate, Recurrent upper respiratory ... OMIM:300209
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas, Arthritis ORPHA:1195
Melnick-Needles Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... ORPHA:2484
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Reduced bone mineral density, He... ORPHA:848
Microcephalic Primordial Dwarfism, Toriello Type
Micrognathia, Short middle phalanx of toe, Enamel hypoplasia, Short proximal phalanx of hallux, S... OMIM:251190
Spastic Paraplegia 18, Autosomal Recessive
High palate, Kyphosis, Scoliosis OMIM:611225
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Achondrogenesis Type 1A
Recurrent fractures, Micrognathia, Short neck, Long philtrum, Short nose, Short foot, Anteverted ... ORPHA:93299
Rothmund-Thomson Syndrome
Abnormality of the dentition, Osteopenia, Aplastic anemia, Delayed eruption of teeth, Microdontia... ORPHA:2909
Stickler Syndrome Type 1
Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis mo... ORPHA:90653
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Micrognathia, Unilambdoid synostosis, Long philtrum, Scoliosis, Short nose, Clinodactyly, Antever... OMIM:618577
Distal Trisomy 18Q
High palate, Clinodactyly of the 5th finger, Arachnodactyly, Micrognathia, Camptodactyly of finge... ORPHA:1716
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Micrognathia, Camptodactyly of fin... ORPHA:3409
Singleton-Merten Syndrome 1
Expanded metacarpals with widened medullary cavities, Osteopenia, Carious teeth, Osteolytic defec... OMIM:182250
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Bowing of the legs, Hypophosphatemic rickets, Reduced bone mineral density, Osteomalacia, Patholo... ORPHA:157215
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Narrow mouth, Depressed nasal ridge, Splenomegaly, Thin vermilion border, Micrognathia, Sandal ga... ORPHA:1046
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Recurren... OMIM:618849
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Osteopenia, Aplastic anemia, Delayed eruption of... ORPHA:811
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Premature loss of teeth, Thin vermilion border, High iliac wing, Long ph... ORPHA:50814
Sponastrime Dysplasia
Depressed nasal bridge, Microdontia, Hypoplasia of the nasal bone, Genu valgum, Rhizomelia, Hip s... ORPHA:93357
Odontomicronychial Dysplasia
Abnormality of the dentition, Premature loss of primary teeth, Premature eruption of permanent te... ORPHA:1811
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Reduced bone mineral density, Slender long bone, Thin bony cortex, Pseudoart... OMIM:619795
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Abnormal oral cavity morphology, Depressed nasal ridge, Short nose, Anteverted nares ORPHA:1355
Ring Chromosome 8 Syndrome
Anteverted nares, Short nose, Abnormal palate morphology, Deviation of finger ORPHA:1450
Felty Syndrome
Sinusitis, Hepatomegaly, Rhinitis, Splenomegaly, Abnormal lymphocyte morphology, Thrombocytopenia... ORPHA:47612
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Retrognathia, Depressed nasal bridge, Short nose, Anteverted nares OMIM:614069
Ciliary Dyskinesia, Primary, 35
Chronic rhinitis, Chronic sinusitis, Nasal polyposis OMIM:617092
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Chronic sinusitis, Nasal polyposis OMIM:604571
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... OMIM:618386
Clark-Baraitser syndrome
Kyphosis, Maxillary lateral incisor microdontia, Prominent median palatal raphe, Broad nasal tip,... OMIM:300602
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
Specific Granule Deficiency 2
Tooth malposition, Osteopenia, Brachydactyly, Thrombocytopenia, Sandal gap, Conical tooth, Neutro... OMIM:617475
Brachydactyly, Type E2
Oligodontia, Delayed eruption of teeth OMIM:613382
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Neoplasm ... ORPHA:543
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Depressed nasal bridge, Short philtrum, Cone-shaped epiphysis, Upper limb undergro... ORPHA:439822
Pfapa Syndrome
Hepatomegaly, Abnormal oral cavity morphology, Splenomegaly, Arthritis, Recurrent pharyngitis, Ly... ORPHA:42642
Ciliary Dyskinesia, Primary, 42
Recurrent sinusitis, Chronic rhinitis, Nasal polyposis OMIM:618695
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Anodontia, Kyphosis, Everted lower lip vermilion, Oligodontia, Scoliosis, Tapered finger, Wide nose ORPHA:276630
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Coffin-Lowry Syndrome
High palate, Wide mouth, Depressed nasal bridge, Broad finger, Delayed eruption of teeth, Advance... ORPHA:192
Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Recurrent pharyngitis,... ORPHA:108
Gamma-Heavy Chain Disease
Abnormal palate morphology, Hepatomegaly, Splenomegaly, Rheumatoid arthritis, Autoimmune thromboc... ORPHA:100026
Chst3-Related Skeletal Dysplasia
Kyphoscoliosis, Flexion contracture, Long philtrum, Delayed eruption of teeth, Scoliosis, Abnorma... ORPHA:263463
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Bulbous nose, Neutrophilia, Brachydactyly, Short foot, Reduction of neutrophil mot... OMIM:266265
Sialidosis Type 2
Kyphosis, Hepatomegaly, Flexion contracture, Splenomegaly, Osteoporosis, Ascites ORPHA:87876
Acrocraniofacial Dysostosis
Cleft palate, Craniosynostosis, Short 1st metacarpal, Short philtrum, Advanced eruption of teeth,... ORPHA:949
Three M Syndrome 2
High palate, Dental malocclusion, Prominent nasal tip, Lumbar hyperlordosis, Malar flattening, De... OMIM:612921
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Macroglossia, Depressed nasal bridge, Short neck, Brachydactyly, ... ORPHA:1914
Autosomal Dominant Hyper-Ige Syndrome
Recurrent fractures, Osteomyelitis, Cleft palate, Craniosynostosis, Abnormality of the dentition,... ORPHA:2314
Bone cyst, Hepatomegaly, Abnormality of the lymph nodes, Eosinophilia, Leukopenia, Thrombocytopen... ORPHA:797
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Malar flattening, Cleft... OMIM:601561
Ciliary Dyskinesia, Primary, 19
Recurrent sinusitis, Rhinitis, Absent inner and outer dynein arms, Nasal polyposis OMIM:614935
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Osteoporosis, Throm... ORPHA:98850
Verheij Syndrome
Hemivertebrae, Short neck, Long philtrum, Scoliosis, Short 5th finger, Short nose, Thin upper lip... OMIM:615583
Laron Syndrome
Short toe, Tooth agenesis, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Microgna... ORPHA:633
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616