Regional Odontodysplasia |
|
Abnormal dental pulp morphology, Mandibular pain, Carious teeth, Short dental root, Eruption fail... |
ORPHA:83450 |
Florid Cemento-Osseous Dysplasia |
|
Periapical bone loss, Abnormal cementum morphology, Atrophy of alveolar ridges, Abnormality of pr... |
ORPHA:83451 |
Amelogenesis Imperfecta |
|
Abnormal jaw morphology, Multiple unerupted teeth, Fragile teeth, Abnormality of permanent molar ... |
ORPHA:88661 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormality of dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Mandibular pain, Calvarial osteosclerosis, Thickened cortex of long b... |
OMIM:607634 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Abnormal cortical bone morphology, Ane... |
ORPHA:1802 |
Failure Of Tooth Eruption, Primary |
|
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth |
OMIM:125350 |
Osteopetrosis, Autosomal Recessive 2 |
|
Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Anemia, Mandibular progna... |
OMIM:259710 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Stillbirth, Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors |
OMIM:183300 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis |
OMIM:125440 |
Osteopetrosis, Autosomal Dominant 2 |
|
Generalized osteosclerosis, Bone marrow hypocellularity, Osteopetrosis, Recurrent fractures, Mand... |
OMIM:166600 |
Osteoglosphonic Dysplasia |
|
Craniosynostosis, Multiple unerupted teeth, Cryptorchidism, Tooth agenesis, Rhizomelia, Failure t... |
ORPHA:2645 |
Pyknoachondrogenesis |
|
Stillbirth, Increased bone mineral density |
OMIM:265880 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density, Widely spaced teeth, Taurodontia, Microdontia |
OMIM:190320 |
Osteopetrosis, Autosomal Recessive 1 |
|
Craniosynostosis, Increased bone mineral density, Pathologic fracture, Anemia, Femur fracture, Ca... |
OMIM:259700 |
Eiken Syndrome |
|
Oligodontia, Flattened epiphysis, Thick lower lip vermilion, Broad metatarsal, Eruption failure, ... |
OMIM:600002 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Sepsis, Hepatomegaly, Rec... |
OMIM:612840 |
Osteoglophonic Dysplasia |
|
Camptodactyly of finger, Short thumb, Short metatarsal, Rhizomelia, Choanal atresia, Broad thumb,... |
OMIM:166250 |
Pyle Disease |
|
Absent paranasal sinuses, Limited elbow extension, Reduced bone mineral density, Hypoplastic fron... |
OMIM:265900 |
Oligodontia |
|
Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru... |
ORPHA:99798 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology, Limb undergrowth, Abnormality ... |
ORPHA:2204 |
Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Recurrent viral infections, Decreased CD4:CD8 ratio, Decr... |
OMIM:615897 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Widely spaced teeth, Taurodontia, Enamel hypomineralization, Micr... |
ORPHA:3352 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Mandibular prognathia, Diaphyseal ... |
ORPHA:3416 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent candida infections, T ... |
OMIM:242870 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Abnormal cortic... |
ORPHA:3152 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Mandibu... |
ORPHA:2790 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Joint stiffness, Abnormality of the fifth metatarsal bone, Chondritis, Ab... |
ORPHA:564003 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Hepatomegaly, Failure to thrive, Thrombocytopenia, Osteopetrosis, Splenomegaly |
OMIM:615085 |
Desmosterolosis |
|
Increased bone mineral density, Retrognathia, Bifid uvula, Ambiguous genitalia, Short nose, Submu... |
ORPHA:35107 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Craniosynostosis, Recurrent sinopulmonary infections, High palate, Increased circulating IgE leve... |
OMIM:147060 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Truncal obesity, Prelingual sensorineural hearing impairment, Small for gestational age, Severe p... |
ORPHA:73272 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Retrognathia, Abnormal metaphysis morphology, Bifid uvula, Facial... |
ORPHA:2780 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis, Wide nasal bridge, Depr... |
ORPHA:1522 |
Dentinogenesis Imperfecta |
|
Grayish enamel, Knee joint hypermobility, Finger joint hypermobility, Abnormal dental pulp morpho... |
ORPHA:49042 |
Otopalatodigital Syndrome, Type I |
|
Short distal phalanx of finger, Hip dislocation, Selective tooth agenesis, Abnormality of the fif... |
OMIM:311300 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Absent isohemagglutinin level, Abnormal T cell morphology, Recurrent bacterial infections, Recurr... |
OMIM:613501 |
Familial Osteodysplasia, Anderson Type |
|
Long nose, Tooth malposition, Abnormal cortical bone morphology, Depressed nasal ridge, Malar fla... |
ORPHA:2769 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Concave nasal ridge, Abnormal cortical bone morphology, Pathologic fracture, Upper limb undergrow... |
ORPHA:166277 |
Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Reticulocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Osteopet... |
OMIM:611490 |
Ck Syndrome |
|
High palate, Retrognathia, Abnormal cortical bone morphology, Slender build, Prominent nasal brid... |
OMIM:300831 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Malar flattening, Abnormality of dental morphology, Maxillozygomatic hypoplasia, Alveolar process... |
ORPHA:2972 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Cryptorchidism, Abnormality of fibula morphology, Hip dysplasia, Tooth agenesis, Abnormal palate ... |
ORPHA:2063 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short finger, Pear-shaped nose, Avascular necrosis of the capital femoral epiphysis, Coxa magna, ... |
OMIM:190351 |
Specific Granule Deficiency 2 |
|
Conical tooth, Absent neutrophil specific granules, Tooth malposition, Anemia, Sepsis, Neutropeni... |
OMIM:617475 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating total IgM, High palate, Increased circulating IgE level, Chronic mucocutane... |
OMIM:619752 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Pathologic fracture, Anemia, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
17Q21.31 Microduplication Syndrome |
|
Delayed puberty, High palate, Abnormality of the dentition, Malar flattening, Short nose, Attenti... |
ORPHA:217340 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced bone mineral density, Eruption failure, Femur fracture, Short clavicles, Narrow mouth, Sm... |
OMIM:619322 |
Otodental Dysplasia |
|
Agenesis of premolar, Tooth ankylosis, Taurodontia, Enamel hypoplasia, Long philtrum, Delayed eru... |
OMIM:166750 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal cortical bone morphology, Abnormal metaphysis morphology, Joint... |
ORPHA:2635 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Elbow ankylosis, Abnormal cortical bone morphology, Bifid uvula, Facial hyperostosis, Choanal atr... |
ORPHA:2658 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatosplenomegaly, Increased bone mineral density, Leukocytosis, Extramedullary hematopoiesis, A... |
OMIM:259720 |
Osteopetrosis, Autosomal Recessive 3 |
|
Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Anemia, Dental malocclusi... |
OMIM:259730 |
Buschke-Ollendorff Syndrome |
|
Flexion contracture, Osteopoikilosis, Joint stiffness |
OMIM:166700 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Anemia, Recurrent bacterial infections, Lymphopenia, Thrombocytopenia... |
ORPHA:169079 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Joint stiffness, Osteoporosis, Carious teeth, Increased bone dens... |
OMIM:136300 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2027 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating total IgM, Anemia, Femur fracture, Decreased circulating IgA level, Hepatom... |
OMIM:612301 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth, Osteoporosis |
ORPHA:71267 |
Proteus Syndrome |
|
Calvarial hyperostosis, Open mouth, Facial hyperostosis, Mandibular hyperostosis, Thin bony corte... |
OMIM:176920 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal fingertip morphology, Short phalanx of finger, Abnormal trabecular... |
ORPHA:79106 |
Intermediate Osteopetrosis |
|
Hepatosplenomegaly, Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormal... |
ORPHA:210110 |
Grant Syndrome |
|
Abnormal palate morphology, Abnormal cortical bone morphology, Bowing of the long bones, Abnormal... |
ORPHA:2097 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Dental malocclusio... |
OMIM:144750 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating total IgM, Depressed nasal bridge, Decreased proportion of CD8-positive, al... |
OMIM:619824 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density, Broad jaw |
ORPHA:178377 |
Cardiospondylocarpofacial Syndrome |
|
Synostosis of carpal bones, Tooth malposition, Failure of eruption of permanent teeth, High, narr... |
ORPHA:3238 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Increased circulating IgE level, Lymphopenia, Failure to thrive, Sinusitis, Recur... |
ORPHA:277 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Ab... |
ORPHA:3344 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... |
OMIM:613493 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating total IgM, Chronic sinusitis, Decreased circulating IgA level, Recurrent ba... |
OMIM:612692 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Unilateral radial aplasia, High palate, Abnormality of the dentition, Eruption failure, Recurrent... |
ORPHA:476126 |
Immunodeficiency 12 |
|
Absent isohemagglutinin level, Clubbing, Abnormal lymphocyte count, Recurrent viral infections, R... |
OMIM:615468 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Decreased circulating total IgM, Meningitis, Decreased circulat... |
OMIM:613500 |
Cleidocranial Dysplasia |
|
Cleft palate, Supernumerary tooth, Decreased skull ossification, Carious teeth, Brachydactyly, Co... |
ORPHA:1452 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD3-positive T cells, Hepatomegaly, Recurrent herpes, Chronic oral candid... |
ORPHA:276 |
Gnathodiaphyseal Dysplasia |
|
Broad jaw, Osteopenia, Thickened cortex of long bones, Recurrent fractures, Mandibular osteomyeli... |
ORPHA:53697 |
Immunodeficiency 102 |
|
Chronic sinusitis, Partial absence of specific antibody response to Haemophilus influenzae type b... |
OMIM:301082 |
Intellectual Developmental Disorder, X-Linked 91 |
|
High palate, Short nose, Macrodontia, Short 5th finger, Small hand, Clinodactyly, Short foot, Obe... |
OMIM:300577 |
Acrodysostosis |
|
Short metatarsal, Micromelia, Short toe, Epiphyseal stippling, Abnormal morphology of ulna, Hypop... |
ORPHA:950 |
Pitt-Hopkins Syndrome |
|
Tooth malposition, Short metatarsal, Cryptorchidism, Micropenis, Triangular nasal tip, Finger cli... |
ORPHA:2896 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating total IgM, Chronic sinusitis, Abnormal T cell morphology, Decreased circula... |
OMIM:613502 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad long bones, Broad femoral head, Sclerosis of middle finger phalanx, Broad radial metaphysis... |
ORPHA:85188 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Enamel hypoplasia, Abnormal dental enamel morphology |
ORPHA:3196 |
Lowry-Maclean Syndrome |
|
Craniosynostosis, Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
Gorham-Stout Disease |
|
Patchy reduction of bone mineral density, Osteolysis, Pathologic fracture, Meningitis, Mandibular... |
ORPHA:73 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Delayed eruption of teeth, Gingival overgrowth |
ORPHA:2222 |
Autosomal Recessive Malignant Osteopetrosis |
|
Craniosynostosis, Recurrent respiratory infections, Reduced bone mineral density, Abnormal metaph... |
ORPHA:667 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Recurrent fungal infections, Decreased proportion of CD4-positive helper T cell... |
ORPHA:572 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Recurrent viral infections... |
OMIM:310350 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Dense metaphyseal bands, Failure to thrive, Clavicular sclerosis,... |
OMIM:615198 |
48,Xxyy Syndrome |
|
Chronic otitis media, Hip dysplasia, Cleft palate, Abnormal shoulder morphology, Carious teeth, T... |
ORPHA:10 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, High palate, Retrognathia, Depressed nasal bridge, Short nose, D... |
OMIM:614069 |
Chung-Jansen Syndrome |
|
High palate, Cryptorchidism, Meconium stained amniotic fluid, Hip dysplasia, Anxiety, Short nose,... |
OMIM:617991 |
Odontochondrodysplasia 1 |
|
Metaphyseal cupping, Irregular epiphyses, Micromelia, Flared iliac wing, Cone-shaped epiphyses of... |
OMIM:184260 |
Zimmermann-Laband Syndrome |
|
Macroglossia, High palate, Hallux valgus, Bifid uvula, Hepatomegaly, Gingival fibromatosis, Abnor... |
ORPHA:3473 |
Dentin Dysplasia, Type I |
|
Oligodontia, Periapical bone loss, Taurodontia, Enamel hypoplasia, Microdontia, Short dental root... |
OMIM:125400 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Oligodontia, Tooth agenesis, Anodontia, Selective tooth agenesis, Aplasia of the maxilla, Agenesi... |
OMIM:313500 |
Immunodeficiency, Common Variable, 2 |
|
Meningitis, Decreased circulating IgA level, Hepatomegaly, Impaired T cell function, Recurrent ba... |
OMIM:240500 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent bacterial infections, Failure to thrive, Recurrent ot... |
OMIM:616022 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Reduced bone mineral density, Hip dysplasia, Abnormal metaphysis morphology, Short nose, Abnormal... |
ORPHA:2370 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Recurrent respiratory infections, Recurrent infection of ... |
OMIM:605258 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Short distal phalanx of finger, Oligodontia, Depressed nasal brid... |
ORPHA:90650 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Dysmenorrhea, Small for gestational age, Cryptorchidism, Low-set ears, Polydactyly, Microphallus,... |
ORPHA:397590 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis, Micrognathia, Decreased body weight, Clinodactyly ... |
OMIM:617306 |
Cleft Lip/Palate |
|
Abnormality of dental eruption, Unilateral cleft palate, Abnormal number of permanent teeth, Clef... |
ORPHA:199306 |
Pseudopseudohypoparathyroidism |
|
Obesity, Pseudohypoparathyroidism, Osteoporosis, Short metacarpal, Short metatarsal, Enamel hypop... |
OMIM:612463 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Osteolysis, Increased circulating antibody level, Anemia, Osteoporosis, He... |
ORPHA:100024 |
Greenberg Dysplasia |
|
Rhizomelia, Micromelia, Anterior rib punctate calcifications, Decreased skull ossification, Micro... |
ORPHA:1426 |
Odontochondrodysplasia |
|
Square pelvis bone, Retrognathia, Abnormal metaphysis morphology, Short nose, Coxa valga, Microme... |
ORPHA:166272 |
Pseudoachondroplasia |
|
Generalized joint laxity, Wind-swept deformity of the knees, Osteoarthritis, Irregular epiphyses,... |
ORPHA:750 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Increased circulating IgA level, Recurrent viral infectio... |
OMIM:618048 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Chronic mucocutaneous candidiasis, Abnormal lymphocyte morpholo... |
OMIM:613953 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Supernumerary tooth, Carious teeth, Limitation of joint mobility, Micrognathia, Hypoplasia of the... |
ORPHA:3145 |
49,Xxxxy Syndrome |
|
Chronic otitis media, Hip dislocation, Cleft palate, Carious teeth, Down-sloping shoulders, Crypt... |
ORPHA:96264 |
Albers-Schönberg Osteopetrosis |
|
Generalized osteosclerosis, Short distal phalanx of finger, Abnormality of the dentition, Abnorma... |
ORPHA:53 |
Pycnodysostosis |
|
Osteolytic defects of the distal phalanges of the hand, Rhizomelia, Carious teeth, Increased susc... |
ORPHA:763 |
Diastrophic Dysplasia |
|
Short finger, Increased bone mineral density, Camptodactyly of finger, Cryptorchidism, Ulnar devi... |
ORPHA:628 |
Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocy... |
OMIM:607624 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip dysplasia, Abnormal epiphysis morphology, Short middle phalanx of finger, Short middle phalan... |
ORPHA:63442 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Limb undergrowth, Malar flattening, Short tibia, Short 4th metacarpal, Short 3rd metacarpal, Micr... |
OMIM:118651 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Recurrent bacterial infe... |
OMIM:606843 |
Acrootoocular Syndrome |
|
Grayish enamel, Short toe, Supernumerary tooth, Pseudopapilledema, Small for gestational age, Con... |
ORPHA:2980 |
Osseous Heteroplasia, Progressive |
|
Ectopic ossification in muscle tissue, Ankylosis, Limb undergrowth |
OMIM:166350 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Chronic hepatitis, Hepatomegaly, Recurrent lower respiratory tract infections, ... |
OMIM:308230 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Arthrogryposis multiplex congenita, Abnormal mandible morphology, Natal tooth, Cleft palate |
OMIM:217150 |
Macrophage Activation Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat... |
ORPHA:158061 |
Vitamin D-Dependent Rickets, Type 2A |
|
Rickets, Secondary hyperparathyroidism, Bulging epiphyses, Enamel hypoplasia, Failure to thrive, ... |
OMIM:277440 |
Aredyld Syndrome |
|
Craniofacial hyperostosis, Abnormal nasal morphology, Mandibular prognathia, Hepatomegaly, Cachex... |
ORPHA:1133 |
48,Xxxy Syndrome |
|
Chronic otitis media, Hip dislocation, Cleft palate, Carious teeth, Down-sloping shoulders, Crypt... |
ORPHA:96263 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent viral infections, Recurrent bacterial infections, Lymphopenia, Recurrent fungal infecti... |
OMIM:614868 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Abnormality of the philtrum, Camptodactyly of finger, Cryptorchidism, Tooth agenesis, High palate... |
ORPHA:2863 |
Isolated Osteopoikilosis |
|
Sclerosis of foot bone, Increased bone mineral density, Sclerotic foci in hand bones, Abnormal lo... |
ORPHA:166119 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Premature loss of teeth, Recurrent viral infections, Recurren... |
ORPHA:486 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Concave nasal ridge, Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis... |
OMIM:122860 |
Osteopetrosis With Renal Tubular Acidosis |
|
Tooth malposition, Hepatomegaly, Narrow mouth, Thick lower lip vermilion, Leukopenia, Prominence ... |
ORPHA:2785 |
Mueller-Weiss Syndrome |
|
Fragmented, irregular epiphyses, Sclerosis of foot bone, Tibiofibular diastasis, Knee osteoarthri... |
ORPHA:566943 |
Cleidocranial Dysplasia 2 |
|
Congenital pseudoarthrosis of the clavicle, Down-sloping shoulders, Short distal phalanx of finge... |
OMIM:620099 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Second metatarsal posteriorly placed, Rocker bottom foot, Thin vermilion border, Carious teeth, J... |
OMIM:214150 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Metaphyseal widening, Increased skull ossifica... |
OMIM:618476 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Abnormal hip bone mo... |
ORPHA:970 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased proportion of CD3-positive T cells, Hepatomegaly, Recurrent fungal infections, Reduced ... |
ORPHA:331206 |
Elsahy-Waters Syndrome |
|
Bifid uvula, Shortening of all phalanges of fingers, Supernumerary tooth, Bilateral cryptorchidis... |
OMIM:211380 |
Short Stature, Dauber-Argente Type |
|
Reduced bone mineral density, Delayed eruption of teeth, Osteopenia |
OMIM:619489 |
Lethal Recessive Chondrodysplasia |
|
Macroglossia, Generalized osteosclerosis, Limb undergrowth, Flared elbow metaphyses, Micromelia, ... |
ORPHA:1423 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Broad nasal tip, Decreased specific antibody response to vaccination, Decreased circulating total... |
ORPHA:221139 |
Brachydactyly, Type E1 |
|
Type E brachydactyly, Short metatarsal, Short metacarpal, Short clavicles, Multiple impacted teet... |
OMIM:113300 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Osteopetrosis, Splenomegaly |
OMIM:618541 |
Amelogenesis Imperfecta, Type Ij |
|
Widely spaced teeth, Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Increased overbite |
OMIM:617297 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating total IgM, Cervical lymphadenopathy, Fail... |
OMIM:618987 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Camptodactyly of finger, High palate, Bifid uvula, Flattened epiphysis, Dislocated radial head, S... |
OMIM:612350 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Abnormality of dental morphology, Gingival fibromatosis, Everted lower lip vermilion... |
ORPHA:2025 |
Immunodeficiency 64 With Lymphoproliferation |
|
Hepatosplenomegaly, Increased circulating IgA level, Recurrent infections, Cervical lymphadenopat... |
OMIM:618534 |
Schnitzler Syndrome |
|
Increased bone mineral density, Leukocytosis, Anemia, Hepatomegaly, Arthritis, Increased circulat... |
ORPHA:37748 |
Familial Expansile Osteolysis |
|
Premature loss of teeth, Osteolysis, Fragile teeth, Pathologic fracture, Thin bony cortex, Bowing... |
OMIM:174810 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased proportion of naive CD8 T cells, Persistent CMV viremia, Chronic lymphatic leukemia, De... |
OMIM:616005 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Decreased proportion of CD3-positive T cells, Recurrent aphthous stom... |
ORPHA:275 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Calvarial osteosclerosis, Recurrent bacterial infections, Slender long bone, Congenital h... |
OMIM:244460 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgA level, Recurrent bacterial infe... |
OMIM:608106 |
Acrocephalopolydactyly |
|
Hepatosplenomegaly, Limb undergrowth, Short nose, Short long bone, Depressed nasal ridge, Brachyd... |
ORPHA:221054 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Short distal phalanx of finger, Recurrent respiratory infections, Hip ... |
ORPHA:2484 |
Bent Bone Dysplasia Syndrome 1 |
|
Hepatosplenomegaly, Coronal craniosynostosis, Malar flattening, Clitoral hypertrophy, Short clavi... |
OMIM:614592 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Decreased circulating total IgM, Frequent Giardia lamblia infes... |
OMIM:300310 |
Pierpont Syndrome |
|
Broad nasal tip, Widely spaced teeth, Hearing impairment, Prominent median palatal raphe, Short t... |
OMIM:602342 |
Whim Syndrome 1 |
|
Abnormal morphology of female internal genitalia, Recurrent bacterial infections, Decreased circu... |
OMIM:193670 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Conical tooth, Abnormality of the dentition, Agenesis of permanent teeth, Abnormality of dental m... |
ORPHA:2228 |
Osteogenesis Imperfecta, Type Xxii |
|
Reduced bone mineral density, Multiple prenatal fractures, Slender long bone, Recurrent fractures... |
OMIM:619795 |
Caffey Disease |
|
Calvarial hyperostosis, Increased circulating antibody level, Cortical thickening of long bone di... |
ORPHA:1310 |
Immunodeficiency 104 |
|
Failure to thrive secondary to recurrent infections, Chronic mucocutaneous candidiasis, Hepatomeg... |
OMIM:608971 |
Trichorhinophalangeal Syndrome Type 2 |
|
Hip dysplasia, Protruding ear, Supernumerary tooth, Thick nasal alae, Cone-shaped epiphyses of th... |
ORPHA:502 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Limited elbow extension, Coronal craniosynostosis, Hip dysplasia, Limb undergrowth, Capitate-hama... |
OMIM:614078 |
Coffin-Siris Syndrome 2 |
|
Short distal phalanx of finger, Cleft palate, Hearing impairment, Thick lower lip vermilion, Brac... |
OMIM:614607 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Cleft palate, Cleft upper lip, Low-set, posteriorly rotated ears, Crypto... |
ORPHA:915 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Recurrent fungal infections, B lymphocytopenia, Reduced red cell adenosine deaminas... |
OMIM:102700 |
Immunodeficiency 62 |
|
Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin... |
OMIM:618459 |
Osteogenesis Imperfecta, Type Xii |
|
Generalized osteoporosis, High palate, Malar flattening, Osteoporosis, Bowing of the arm, Narrow ... |
OMIM:613849 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Reduced natural killer cell activity, Recurrent lower respiratory tract infections,... |
OMIM:615559 |
Rothmund-Thomson Syndrome |
|
Selective tooth agenesis, Short thumb, Abnormal trabecular bone morphology, Supernumerary tooth, ... |
ORPHA:2909 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Abnormal cortical bone morphology, Sepsis, Wide anterior fontanel, Abnormality of the male genita... |
OMIM:614886 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Meningitis... |
OMIM:212050 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Recurrent respiratory infections, Recurren... |
OMIM:615513 |
Sponastrime Dysplasia |
|
Hip dislocation, Generalized joint laxity, Rhizomelia, Metaphyseal irregularity, Flattened humera... |
ORPHA:93357 |
Trisomy 9P |
|
Abnormal nasal morphology, Dental crowding, Brachydactyly, Downturned corners of mouth, Non-midli... |
ORPHA:236 |
Temple-Baraitser Syndrome |
|
Short distal phalanx of finger, Broad thumb, Short phalanx of the thumb, Thick nasal alae, Triang... |
ORPHA:420561 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Tooth agenesis, Anemia, Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel ... |
ORPHA:2325 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, High palate, Flattened epiphysis, Flat acetabular roof, Wide ante... |
ORPHA:163649 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Broad nasal tip, Short nose, Attention deficit hyperactivity disorder, Syndactyly, M... |
OMIM:619736 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr... |
ORPHA:174 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Protruding ear, Smooth philtrum, Thick lower lip vermilion, Overjet, Wide nasal bridge, Thick ver... |
OMIM:618342 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Chronic oral candidiasis, Hepatosplenomegaly, Recurrent bacterial skin infections, Lymphadenitis,... |
ORPHA:911 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Rickets of the lower limbs, Genu varum, Bulging epiphyses, Bowing of the long bones, Del... |
OMIM:600785 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Complete or near-complete absence of specific antibody re... |
ORPHA:70593 |
Ollier Disease |
|
Osteolysis, Abnormal metaphysis morphology, Joint stiffness, Anemia, Precocious puberty, Multiple... |
ORPHA:296 |
Selective Igm Deficiency |
|
Chronic sinusitis, Recurrent shingles, Decreased specific antibody response to vaccination, Decre... |
ORPHA:331235 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Limb undergrowth, Hypoplastic vertebral bodies, Coxa valga, Hepatomegaly, Sea-bl... |
OMIM:230600 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Severe infection, Chronic oral candidiasis, Decreased proportion of naive T cells, Severe viral i... |
ORPHA:83471 |
Ramon Syndrome |
|
Osteolysis, Gingival fibromatosis, Narrow palate, Delayed eruption of teeth, Abnormal dental enam... |
ORPHA:3019 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia,... |
OMIM:608184 |
Acromicric Dysplasia |
|
Joint stiffness, Short nose, Short metacarpal, Abnormal epiphysis morphology, Anteverted nares, N... |
ORPHA:969 |
Gardner Syndrome |
|
Adrenocortical adenoma, Congenital hypertrophy of retinal pigment epithelium, Astrocytoma, Piloma... |
ORPHA:79665 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Craniosynostosis, Cryptorchidism, Micropenis, Malar flattening, Obesity, Short nose, Short colume... |
ORPHA:171839 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal palate morphology, Tooth agenesis, Mesomelia, Abnormal shoulder morphology, Convex nasal... |
ORPHA:1277 |
Van Buchem Disease |
|
Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis |
OMIM:239100 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Secondary hyperparathyroidism, Bulging epiphyses, Enamel hypoplasia, Failure to thrive, ... |
OMIM:264700 |
Opsismodysplasia |
|
Recurrent respiratory infections, Abnormal metaphysis morphology, Joint stiffness, Hypoplastic ve... |
ORPHA:2746 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections, Lymphadenopathy |
OMIM:616126 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia, Perianal abscess, B lymphocytopenia, Sple... |
OMIM:619437 |
Hennekam Syndrome |
|
Camptodactyly of finger, Tooth agenesis, Narrow mouth, Supernumerary tooth, Pulmonary lymphangiec... |
ORPHA:2136 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections, Abnor... |
OMIM:308220 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent infections, Hemophagocytosis, Recurrent aphthous stomatitis, Bone marrow hypocellularit... |
OMIM:301078 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Rhizomelia, Metaphyseal irregularity, Short dental root, Small epiphyses, Flat capital femoral ep... |
OMIM:271510 |
Non-Distal Duplication 10Q |
|
High palate, Cryptorchidism, Low-set, posteriorly rotated ears, Cognitive impairment, Short nose,... |
ORPHA:1695 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Absent tonsils, BCGitis, Increased circulating IgE level, Sepsis, He... |
OMIM:602450 |
Specific Granule Deficiency 1 |
|
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... |
OMIM:245480 |
Carpenter Syndrome 1 |
|
Agenesis of permanent teeth, Polysplenia, Preaxial foot polydactyly, Aplasia/Hypoplasia of the mi... |
OMIM:201000 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Reduced natural killer cell activity, Chronic oral candidiasis, Impaired ADP-induce... |
OMIM:608233 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... |
OMIM:619924 |
Dysostosis, Stanescu Type |
|
Macroglossia, Increased bone mineral density, Abnormality of the dentition, Tooth agenesis, Abnor... |
ORPHA:1798 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hepatosplenomegaly, Concave nasal ridge, Recurrent respiratory infections, Recurrent viral infect... |
OMIM:606367 |
Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Limited elbow extension, Broad nasal tip, Vertebral fusion, Capitate-hamate... |
OMIM:272460 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Malar flattening, Short ribs, Advanced ossification of carpal bones, ... |
OMIM:215045 |
Clark-Baraitser Syndrome |
|
High palate, Low-set ears, Depressed nasal bridge, Hyperactivity, Anxiety, Exaggerated cupid's bo... |
OMIM:617752 |
Otodental Syndrome |
|
Abnormal dental pulp morphology, Agenesis of premolar, Taurodontia, Abnormal dental enamel morpho... |
ORPHA:2791 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD3-positive T cells, Recurrent lower respiratory tract infections, Decre... |
ORPHA:169154 |
Mannose-Binding Lectin Deficiency |
|
Disseminated cryptosporidium infection, Recurrent herpes, Failure to thrive, Recurrent Klebsiella... |
OMIM:614372 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent streptococcus pneumoniae infections, Recurrent bacterial infections, Recurrent staphylo... |
ORPHA:70592 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Molluscum contagiosum, Increased circulating IgE level, Herpes simplex enceph... |
OMIM:618982 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Meningitis, Failure to thrive secondary to recurrent infections, Arthritis, Failure to thrive, Pu... |
OMIM:601457 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Abnormality of the dentition, Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2026 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Macroglossia, Camptodactyly, High palate, Wide nasal base, Broad philtrum, Hepatomegaly, Dental c... |
OMIM:616354 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Osteolysis, Premature loss of teeth, Joint stiffness, Mandibular prognat... |
ORPHA:137834 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Micrognathia,... |
ORPHA:1486 |
Gapo Syndrome |
|
Eruption failure, Breast hypoplasia, Hypoplastic nipples, Wide anterior fontanel, Short nose, Hep... |
OMIM:230740 |
Macrocephaly/Autism Syndrome |
|
High palate, Large for gestational age, Depressed nasal bridge, Penile freckling, Recurrent infec... |
OMIM:605309 |
Hall-Riggs Syndrome |
|
Abnormal metaphysis morphology, Joint stiffness, Limb undergrowth, Abnormal dental enamel morphol... |
ORPHA:2107 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent sinopulmonary infections, Decreased circulating total IgM, Disseminated molluscum conta... |
OMIM:243700 |
Alazami-Yuan Syndrome |
|
High palate, Cryptorchidism, Prominent nasal bridge, Hyperactivity, Underdeveloped nasal alae, Sh... |
OMIM:617126 |
Pgm3-Cdg |
|
Chronic sinusitis, Hemolytic anemia, Decreased proportion of CD3-positive T cells, Recurrent fung... |
ORPHA:443811 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Bony paranasal bossing, Patchy sclerosis of finger phalanx, Facial hyperostosis, Mandibular progn... |
OMIM:218400 |
Autosomal Recessive Omodysplasia |
|
Craniosynostosis, Depressed nasal bridge, Cryptorchidism, Abnormal metaphysis morphology, Rhizome... |
ORPHA:93329 |
Immunodeficiency 33 |
|
Increased circulating IgA level, Conical tooth, Decreased circulating total IgM, Recurrent bacter... |
OMIM:300636 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Open mouth, Broad nasal tip, Retrognathia, Malar flattening, Failure to thrive in infancy, Anxiet... |
OMIM:613670 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Cryptorchidism, Malar flattening, Obesity, Short metatarsal, Advanced ossification of carpal bone... |
OMIM:614613 |
Desbuquois Dysplasia 1 |
|
Partial duplication of the distal phalanx of the hallux, Flattened epiphysis, Short metatarsal, A... |
OMIM:251450 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... |
OMIM:300400 |
Fgfr2-Related Bent Bone Dysplasia |
|
Hepatosplenomegaly, Coronal craniosynostosis, Extramedullary hematopoiesis, Clitoral hypertrophy,... |
ORPHA:313855 |
Adult Idiopathic Neutropenia |
|
Recurrent infections, Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent bac... |
ORPHA:2688 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
High palate, Depressed nasal bridge, Hip dysplasia, Limb undergrowth, Knee flexion contracture, S... |
OMIM:616809 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Self-mutilation, Cryptorchidism, Decreased fetal movement, Genu varum, Hyperactivity, Mandibular ... |
OMIM:604317 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG, Recurrent bacterial infections, Recurrent respiratory in... |
OMIM:613495 |
Distal Duplication 18Q |
|
Deviation of finger, Camptodactyly of finger, Cryptorchidism, High palate, Low-set, posteriorly r... |
ORPHA:1716 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Rec... |
OMIM:618986 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Recurrent urinary tract infections, Abnorma... |
OMIM:613179 |
Developmental And Epileptic Encephalopathy 73 |
|
Hip dysplasia, Restlessness, Short nose, Irritability, Failure to thrive, Narrow nasal bridge, Se... |
OMIM:618379 |
Pseudohypoparathyroidism, Type Ia |
|
Short finger, Hypogonadism, Obesity, Osteoporosis, Short metatarsal, Short metacarpal, Pseudohypo... |
OMIM:103580 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Hemangioma, Low-set ears, Obesity, Anxiety, Posteriorly rotated ears, Attention deficit hyperacti... |
ORPHA:444002 |
14Q11.2 Microdeletion Syndrome |
|
High palate, Deep philtrum, Short nose, Everted lower lip vermilion, Toe syndactyly, Narrow mouth... |
ORPHA:261120 |
Ghosal Hematodiaphyseal Dysplasia |
|
Increased bone mineral density, Leukopenia, Bone marrow hypocellularity, Refractory anemia, Throm... |
OMIM:231095 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Tooth agenesis, Abnormal dental enamel morphology, Abnormality of dental morphology, Everted lowe... |
ORPHA:1028 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Decreased circulating total IgM, Meningitis, Decreased circulat... |
OMIM:619707 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Agitation, Widely spaced teeth, Hearing impairment, Camptodactyly, Cryptorchidism, Short nose, Do... |
ORPHA:369891 |
Trichorhinophalangeal Syndrome, Type I |
|
Short metatarsal, Coxa magna, Osteoarthritis, Narrow palate, Carious teeth, Flat capital femoral ... |
OMIM:190350 |
16P12.1P12.3 Triplication Syndrome |
|
Short 5th finger, Bilateral cryptorchidism, Thin vermilion border, Large earlobe, Brachydactyly, ... |
ORPHA:485405 |
Catifa Syndrome |
|
Camptodactyly, Tooth malposition, Cleft lip, Cleft palate, Long philtrum, Delayed eruption of tee... |
OMIM:618761 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Craniosynostosis, Recurrent respiratory infections, Abnormality of the dentition, Increased circu... |
ORPHA:2314 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Increased bone mineral density, High palate, Abnormal diaphysis morphology, Malar flattening, Wid... |
ORPHA:85184 |
Pde4D Haploinsufficiency Syndrome |
|
Short metatarsal, Hearing impairment, Short toe, Cone-shaped epiphysis, Short phalanx of finger, ... |
ORPHA:439822 |
Diabetes Insipidus, Neurohypophyseal |
|
Short nose, Osteopenia, Wide nose, Long philtrum, Central diabetes insipidus |
OMIM:125700 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, Leukocytosis, Decreased circulating IgA level, Reduced natural k... |
OMIM:619281 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Retrognathia, Cleft palate, Mesomelic leg shortening, Mesomelic arm shor... |
OMIM:249710 |
Codas Syndrome |
|
Extrahepatic biliary duct atresia, Midline defect of the nose, Congenital hip dislocation, Short ... |
ORPHA:1458 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral density |
OMIM:241520 |
Bare Lymphocyte Syndrome, Type Ii |
|
Biliary tract abnormality, Cholangitis, Recurrent urinary tract infections, Recurrent viral infec... |
OMIM:209920 |
Infantile Systemic Hyalinosis |
|
Aplasia/Hypoplasia of the thymus, Camptodactyly of finger, Joint stiffness, Polycystic ovaries, O... |
ORPHA:2176 |
Shwachman-Diamond Syndrome |
|
Hypopituitarism, Metaphyseal chondrodysplasia, Hepatomegaly, Macrocytic anemia, Proximal femoral ... |
ORPHA:811 |
Cleidocranial Dysplasia 1 |
|
Hip dislocation, Cleft palate, Narrow palate, Supernumerary tooth, Increased susceptibility to fr... |
OMIM:119600 |
Laron Syndrome |
|
Tooth agenesis, Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Truncal obesity, Mi... |
ORPHA:633 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Limb undergrowth, Metaphyseal widening, Short ribs, Short nose, Anteverted nares, Brachydactyly, ... |
OMIM:618961 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Bicoronal synostosis, Diastema, Osteoporosis, Microdontia, Osteopenia, Supernumerary tooth, Joint... |
OMIM:619718 |
Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Tooth agenesis, Abnormal cortical bone morphology, Abnormal diaphysis mo... |
ORPHA:2710 |
C Syndrome |
|
Hip dislocation, Hepatomegaly, Micromelia, Toe syndactyly, Thick anterior alveolar ridges, Postax... |
OMIM:211750 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent viral infections, Increased circulating IgE level, Re... |
ORPHA:217390 |
Terminal Osseous Dysplasia |
|
Depressed nasal tip, Camptodactyly of finger, Camptodactyly of toe, Thick vermilion border, Malar... |
OMIM:300244 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Interphalangeal joint contracture of finger, Thin bony cortex, Broad metatarsal, Camptodactyly of... |
OMIM:259600 |
Bone Dysplasia, Lethal Holmgren Type |
|
Recurrent respiratory infections, Depressed nasal ridge, Abnormal diaphysis morphology, Anemia, S... |
ORPHA:1842 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Narrow mouth, Preaxial hand polydactyly, Decreased proportion of CD4-positive helpe... |
ORPHA:508533 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Recurrent respiratory infections, Short nose, Osteoarthritis, Delayed epiphyseal ossification, Sm... |
OMIM:618618 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
High palate, Hip dislocation, Retrognathia, Limb undergrowth, Short nose, Recurrent lower respira... |
OMIM:618005 |
Fetal Akinesia Deformation Sequence 4 |
|
Camptodactyly, Cryptorchidism, Decreased fetal movement, Retrognathia, High palate, Low-set ears,... |
OMIM:618393 |
Rothmund-Thomson Syndrome Type 2 |
|
Tooth agenesis, Pathologic fracture, Finger symphalangism, Abnormal trabecular bone morphology, C... |
ORPHA:221016 |
Familial Adenomatous Polyposis |
|
Congenital hypertrophy of retinal pigment epithelium, Adenocarcinoma of the small intestine, Colo... |
ORPHA:733 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Cryptorchidism, Recurrent infections, Polydactyly, Short nose, Hypoplasti... |
OMIM:616910 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Abnormality of dental eruption, Short distal phalanx of finger, Camptodactyly of finger, Toe synd... |
ORPHA:1327 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand, Persisten... |
OMIM:265800 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Congenital hip dislocation, Anemia, Delayed eruption of teeth, Increased body weigh... |
OMIM:614450 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, B lymphocytopenia, Pancytopenia, De... |
OMIM:616873 |
Tonne-Kalscheuer Syndrome |
|
Widely spaced teeth, Broad thumb, Narrow mouth, Brachydactyly, Cryptorchidism, Micropenis, Shynes... |
OMIM:300978 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat... |
ORPHA:540 |
Dysosteosclerosis |
|
Oligodontia, Diaphyseal thickening, Increased susceptibility to fractures, Short sternum, Absent ... |
OMIM:224300 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal fear/anxiety-related behavior, Meningioma, Pilomatrixoma, Broad thumb, Narrow palate, Su... |
ORPHA:353281 |
Tricho-Retino-Dento-Digital Syndrome |
|
Oligodontia, Abnormality of the dentition, Supernumerary tooth |
ORPHA:1264 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Recurrent ba... |
OMIM:202700 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Metaphyseal cupping, Flat acetabular roof, Short ribs, Deep philtrum, ... |
OMIM:613320 |
Pseudohypoparathyroidism, Type Ic |
|
Hypogonadism, Obesity, Osteoporosis, Short metatarsal, Short metacarpal, Pseudohypoparathyroidism... |
OMIM:612462 |
Cherubism |
|
Oligodontia, Jaw swelling, Multiple impacted teeth, Narrow palate, Dental malocclusion, Alveolar ... |
OMIM:118400 |
Camurati-Engelmann Disease |
|
Abnormality of the humerus, Slender build, Abnormal diaphysis morphology, Hepatomegaly, Cachexia,... |
ORPHA:1328 |
Rothmund-Thomson Syndrome, Type 2 |
|
High palate, Cryptorchidism, Congenital hip dislocation, Small for gestational age, Short thumb, ... |
OMIM:268400 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short distal phalanx of finger, Camptodactyly of finger, High palate, Abnormality of the dentitio... |
ORPHA:77258 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Post-vaccination polio, Recurrent otitis media, B lymphocytopenia, Agammaglobulinemia, Recurrent ... |
OMIM:616941 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Short nose, Short stature, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Depre... |
ORPHA:1355 |
Majeed Syndrome |
|
Increased bone mineral density, Leukocytosis, Hepatomegaly, Cachexia, Failure to thrive, Metaphys... |
ORPHA:77297 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Cryptorchidism, Ambiguous genitalia, Deep philtrum, Thrombocytope... |
ORPHA:1237 |
Hutchinson-Gilford Progeria Syndrome |
|
Abnormal nasal tip morphology, Hip dislocation, Osteolytic defects of the distal phalanges of the... |
ORPHA:740 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Malar flattening, Short nose, Decreased circulating IgA level, Reduced natural kill... |
OMIM:242860 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly, Recurrent infections |
OMIM:606445 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Oligodontia, Tooth malposition, Complete duplication of the middle phalanx of the 3rd finger, Nar... |
ORPHA:363417 |
Craniometadiaphyseal Dysplasia |
|
Absent paranasal sinuses, High palate, Genu varum, Malar flattening, Wide anterior fontanel, Coxa... |
OMIM:269300 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Cryptorchidism, Micropenis, Bifid uvula, Recurrent bacterial infections, Decreased response to gr... |
OMIM:241410 |
Smith-Magenis Syndrome |
|
Delayed puberty, Chronic otitis media, Cleft palate, Toe syndactyly, Cleft upper lip, Brachydacty... |
ORPHA:819 |
Hemifacial Atrophy, Progressive |
|
Tongue atrophy, Dental malocclusion, Short mandibular rami, Delayed eruption of teeth |
OMIM:141300 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Rickets, Secondary hyperparathyroidism, Genu varum, Irregular, rachitic-like metaphyses, Enamel h... |
ORPHA:289157 |
Angioosteohypotrophic Syndrome |
|
Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abnormal trabecular bone mo... |
ORPHA:75508 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short nose, Cleft palate, Anteverted nares, Micrognathia, Thin upper lip vermilion |
ORPHA:2015 |
Autosomal Dominant Robinow Syndrome |
|
Camptodactyly of finger, Oligodontia, Hip dislocation, Hip dysplasia, Median cleft lip and palate... |
ORPHA:3107 |
Smith-Kingsmore Syndrome |
|
Short distal phalanx of finger, Cryptorchidism, Open mouth, Large for gestational age, Wide anter... |
OMIM:616638 |
Mulibrey Nanism |
|
Hypoplastic frontal sinuses, Hepatomegaly, Enamel hypoplasia, Recurrent lower respiratory tract i... |
OMIM:253250 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Narrow mouth, Narrow palate, Supernumerary tooth, Thin vermilion border... |
OMIM:234100 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion, Carious teet... |
OMIM:204700 |
Boomerang Dysplasia |
|
Abnormality of the humerus, Cryptorchidism, Abnormal morphology of ulna, Aplasia/Hypoplasia of th... |
ORPHA:1263 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Hepatomegaly, Recurrent lower respiratory tract infections, Cleft ... |
OMIM:612541 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Decreased testicular size, Radial club hand, Cryptorchidism, ... |
OMIM:617053 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Short nose, Delayed eruption of permanent teeth, Rocker bottom foot, Anteverted nares, Thick verm... |
OMIM:618506 |
Familial Adenomatous Polyposis 1 |
|
Carcinoma, Adrenocortical adenoma, Congenital hypertrophy of retinal pigment epithelium, Astrocyt... |
OMIM:175100 |
4H Leukodystrophy |
|
Delayed puberty, Abnormality of the dentition, Decreased response to growth hormone stimulation t... |
ORPHA:289494 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Thrombocytopenia, Osteopetrosis |
ORPHA:3240 |
Immunodeficiency, Common Variable, 11 |
|
Decreased proportion of class-switched memory B cells, Recurrent respiratory infections, Increase... |
OMIM:615767 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Abnormality of bone mineral density, Temporomandibular joint ankylosis, ... |
ORPHA:2741 |
Maxillonasal Dysplasia, Binder Type |
|
Short distal phalanx of finger, Short nose, Short columella, Dental malocclusion, Depressed nasal... |
OMIM:155050 |
Camurati-Engelmann Disease |
|
Diaphyseal sclerosis, Increased bone mineral density, Slender build, Anemia, Cortical thickening ... |
OMIM:131300 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Broad nasal tip, Short metatarsal, Hearing impairment, Elevated circulating thyroid-stimulating h... |
OMIM:101800 |
Periventricular Nodular Heterotopia 7 |
|
Cryptorchidism, Short nose, Optic disc pallor, Micrognathia, Failure to thrive, Contracture of th... |
OMIM:617201 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Central vertebral hypoplasia, Limb undergrowth, Short ribs, Hepatomegaly, Delayed epi... |
OMIM:602557 |
Achondrogenesis Type 1A |
|
Short nose, Abnormal enchondral ossification, Anteverted nares, Micromelia, Long philtrum, Short ... |
ORPHA:93299 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt... |
OMIM:233650 |
Perlman Syndrome |
|
Open mouth, Cryptorchidism, Retrognathia, Low-set ears, Posteriorly rotated ears, Short nose, Cap... |
ORPHA:2849 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Broad philtrum, Short nose, Anteverted nares, Hypoplastic female external genital... |
OMIM:618577 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Camptodactyly of finger, Abnormal palate morphology, Protruding ear, Short nose, Death in infancy... |
ORPHA:1495 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Open mouth, High palate, Prominent nasal bridge, Restlessness, Agitation, Hyperactivity, Anxiety,... |
OMIM:300558 |
Prolidase Deficiency |
|
Concave nasal ridge, High palate, Increased circulating antibody level, Anemia, Short nose, Hepat... |
OMIM:170100 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Rickets, Bulging epiphyses, Failure to thrive, Delayed epiphyseal ossification, Femoral bowing, S... |
OMIM:600081 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Short distal phalanx of finger, Oligodontia, Calvarial osteosclerosis, Cleft palate, Broad thumb,... |
OMIM:616331 |
Immunodeficiency 76 |
|
Lymphopenia, Recurrent pneumonia, B lymphocytopenia, Lymphadenopathy, Recurrent bronchiolitis, Sp... |
OMIM:619164 |
Heart-Hand Syndrome Type 2 |
|
Abnormality of the humerus, Hand polydactyly, Cryptorchidism, Abnormal palate morphology, Abnorma... |
ORPHA:1350 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Amelogenesis imperfecta, Taurodontia, Enamel hypoplasia, Generalized microdontia |
OMIM:104530 |
Ohdo Syndrome |
|
Depressed nasal bridge, Cryptorchidism, Hypoplasia of teeth, Widely spaced teeth, Short nose, Sho... |
OMIM:249620 |
Chime Syndrome |
|
Thick vermilion border, Osteolysis, Hip dislocation, Abnormality of the dentition, Depressed nasa... |
ORPHA:3474 |
Mohr Syndrome |
|
Partial duplication of the phalanges of the hallux, Broad nasal tip, Preaxial foot polydactyly, C... |
OMIM:252100 |
Maxillonasal Dysplasia |
|
Short distal phalanx of finger, Tooth agenesis, Abnormal nostril morphology, Short nose, Mandibul... |
ORPHA:1248 |
Nance-Horan Syndrome |
|
Abnormality of the dentition, Prominent nasal bridge, Protruding ear, Mandibular prognathia, Reti... |
ORPHA:627 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Short thumb, Penoscrotal transposition, Choanal atresia, Hearing impairment, Small for gestationa... |
OMIM:619148 |
Brachydactyly, Type B1 |
|
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Vertebral fusion, Micropen... |
OMIM:113000 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Hip dysplasia, Smooth philtrum, 11 pairs of ribs, Recurrent infections, Depressed nasal tip, Cryp... |
OMIM:620005 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Craniosynostosis, Cryptorchidism, Micropenis, Short nose, Decreased response to growth hormone st... |
OMIM:614732 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, Recurrent shingles, Nasal polyposis, Lymphopenia, Recurrent otitis media... |
OMIM:615518 |
Immunodeficiency 15A |
|
Decreased proportion of memory B cells, Recurrent respiratory infections, Chronic mucocutaneous c... |
OMIM:618204 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Retrognathia, Abnormal metaphysis morphology, Abnormal hip bone morpholo... |
ORPHA:2631 |
Potocki-Shaffer Syndrome |
|
Micropenis, Short nose, Underdeveloped nasal alae, Downturned corners of mouth, Multiple exostose... |
OMIM:601224 |
Rhizomelic Chondrodysplasia Punctata |
|
Abnormality of the dentition, Abnormal metaphysis morphology, Limb undergrowth, Rhizomelia, Abnor... |
ORPHA:177 |
Autosomal Recessive Robinow Syndrome |
|
Chronic otitis media, Short distal phalanx of finger, Camptodactyly of finger, Ankyloglossia, Hea... |
ORPHA:1507 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Rocker bottom foot, Proximal femoral epiphysiolysis, Flattened femoral head, Tibial metaphyseal i... |
ORPHA:457395 |
Fraxe Intellectual Disability |
|
Prominent nasal bridge, Hyperactivity, Agitation, Prominent ear helix, Intrauterine growth retard... |
ORPHA:100973 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Gapo Syndrome |
|
Hemangioma, Choanal atresia, Hearing impairment, Thick nasal alae, Delayed eruption of teeth, Abn... |
ORPHA:2067 |
Gaucher Disease Type 1 |
|
Increased bone mineral density, Osteolysis, Gingival bleeding, Leukopenia, Increased circulating ... |
ORPHA:77259 |
Chromosome 3Q29 Deletion Syndrome |
|
Small for gestational age, Low-set ears, Prominent nasal bridge, Hyperactivity, Anxiety, Posterio... |
OMIM:609425 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Periapical bone loss, Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Hallermann-Streiff Syndrome |
|
Choanal atresia, Narrow mouth, Supernumerary tooth, Abdominal situs inversus, Cryptorchidism, Mal... |
ORPHA:2108 |
Pachydermoperiostosis |
|
Elevated circulating growth hormone concentration, Osteolysis, Abnormal cortical bone morphology,... |
ORPHA:2796 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Oligodontia, Cleft palate, Hearing impairment, Facial capillary hemangioma, Microglossia, Brachyd... |
ORPHA:364577 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Delayed puberty, Thick lower lip vermilion, Brachydactyly, Emotional lability, Cryptorchidism, Mi... |
OMIM:300354 |
Growth Hormone Insensitivity Syndrome |
|
Hypogonadism, Truncal obesity, Short stature, Failure to thrive, Hypoplasia of penis, Everted low... |
ORPHA:181393 |
Singleton-Merten Syndrome 1 |
|
Hip dislocation, Smooth philtrum, Carious teeth, Short dental root, Expanded phalanges with widen... |
OMIM:182250 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Low-set ears, Cryptorchidism, Short nose, Intrauterine growth retardation, Optic atrophy, Decreas... |
OMIM:615419 |
Weismann-Netter Syndrome |
|
Calvarial hyperostosis, Lateral femoral bowing, Delayed eruption of permanent teeth, Anterior tib... |
OMIM:112350 |
Lethal Osteosclerotic Bone Dysplasia |
|
Low-set ears, Retrognathia, Depressed nasal ridge, Median cleft lip and palate, Posteriorly rotat... |
ORPHA:1832 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Abnormal palate morphology, Deep philtrum, Sho... |
ORPHA:2701 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short distal phalanx of finger, Open mouth, Short nose, Microdontia, Delayed eruption of permanen... |
OMIM:619356 |
Diastrophic Dysplasia |
|
Short finger, Cystic lesions of the pinnae, Small for gestational age, Glabellar hemangioma, Ulna... |
OMIM:222600 |
Fetal Hydantoin Syndrome |
|
Short distal phalanx of finger, Cryptorchidism, Low-set, posteriorly rotated ears, Neoplasm, Abno... |
ORPHA:1912 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Metaphyseal cupping, Short ribs, Rhizomelia, Malar flattening, Sh... |
ORPHA:50945 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
Non-Distal Duplication 13Q |
|
Hemangioma, High palate, Cryptorchidism, Abnormality of the dentition, Cognitive impairment, Abno... |
ORPHA:1702 |
Hypophosphatasia, Adult |
|
Rickets, Pathologic fracture, Osteomalacia, Premature loss of primary teeth, Premature loss of pe... |
OMIM:146300 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Fractured radius, Micropenis, Decreased fibular diameter, Limb undergr... |
OMIM:616897 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Self-mutilation, Agenesis of permanent teeth, Cleft palate, Broad thumb, Narrow mouth, Abnormalit... |
ORPHA:251028 |
Achondrogenesis Type 1B |
|
Short nose, Abnormal enchondral ossification, Anteverted nares, Micromelia, Long philtrum, Microg... |
ORPHA:93298 |
Ring Chromosome 8 Syndrome |
|
Deviation of finger, Abnormal palate morphology, Polyhydramnios, Short nose, Anteverted nares, Ro... |
ORPHA:1450 |
Osteogenesis Imperfecta, Type Xviii |
|
Generalized osteoporosis, Abnormality of the dentition, Femoral bowing, Joint laxity, Recurrent f... |
OMIM:617952 |
Schwartz-Jampel Syndrome |
|
Hip dysplasia, Cachexia, Cleft palate, Shoulder flexion contracture, Narrow mouth, Supernumerary ... |
ORPHA:800 |
Rothmund-Thomson Syndrome Type 1 |
|
Tooth agenesis, Finger symphalangism, Abnormal trabecular bone morphology, Carious teeth, Short p... |
ORPHA:221008 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Thistle tube shaped pulp, Pulp calcification |
OMIM:125420 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Cryptorchidism, Ambiguous genitalia, Malar flattening, Rhizomelia, Short nose, Hyp... |
ORPHA:93328 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphyseal trabecularization, ... |
ORPHA:1782 |
Sweet Syndrome |
|
Abnormality of tumor necrosis factor secretion, Acne inversa, Predominantly dermal neutrophilic i... |
ORPHA:3243 |
12Q14 Microdeletion Syndrome |
|
Prominent nasal bridge, Failure to thrive, Wide nose, Downturned corners of mouth, Thin vermilion... |
ORPHA:94063 |
Atelosteogenesis, Type Ii |
|
Depressed nasal bridge, Dumbbell-shaped femur, Short greater sciatic notch, Limb undergrowth, Mal... |
OMIM:256050 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections, Abs... |
OMIM:608957 |
Coffin-Lowry Syndrome |
|
Short distal phalanx of finger, Protruding ear, Abnormal diaphysis morphology, Widely spaced teet... |
ORPHA:192 |
Trichothiodystrophy 3, Photosensitive |
|
Increased circulating IgA level, Eclabion, Recurrent infections, Lymphopenia, Failure to thrive, ... |
OMIM:616395 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral hepatitis, Meningitis, Recurrent enteroviral infe... |
OMIM:307200 |
Acrofacial Dysostosis, Palagonia Type |
|
Oligodontia, Unilateral cleft lip, Malar flattening, Finger syndactyly, Short 4th metacarpal, Hig... |
ORPHA:1787 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Leukopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Short metacarpal, Re... |
ORPHA:508542 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased specific antibody response to vaccination, B lymphocytopenia, Recurrent infections, Rec... |
OMIM:614700 |
Char Syndrome |
|
Hand polydactyly, Depressed nasal ridge, Supernumerary nipple, Malar flattening, Mesoaxial foot p... |
ORPHA:46627 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Fifth finger distal phalanx clinodactyly, Broad long bones, Narrow mouth, Thin vermilion border, ... |
OMIM:257850 |
Teebi Hypertelorism Syndrome 1 |
|
Shawl scrotum, Anxiety, Short nose, Short stature, Micrognathia, Dental crowding, Anteverted nare... |
OMIM:145420 |
Acrocallosal Syndrome |
|
Bifid uvula, Preaxial foot polydactyly, Cleft palate, Toe syndactyly, Narrow mouth, Prominent pal... |
OMIM:200990 |
Cranio-Osteoarthropathy |
|
Deviation of finger, Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthriti... |
ORPHA:1525 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Camptodactyly of finger, Cryptorchidism, Prominent nasal bridge, Cognitive impairment, Posteriorl... |
ORPHA:2083 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Broad nasal tip, Abnormal diaphysis morphology, Narrow mouth, Hepatosple... |
ORPHA:354 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Recurrent infections, Hemolytic anemia, Increased circulating a... |
OMIM:614470 |
Acute Lung Injury |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Camptodactyly, Open mouth, High palate, Low-set ears, Pierre-Robin sequence, Posteriorly rotated ... |
OMIM:613604 |
Intellectual Developmental Disorder, X-Linked 104 |
|
High palate, Retrognathia, Hyperactivity, Abnormal pinna morphology, Bifid nasal tip, Tremor, Wid... |
OMIM:300983 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed puberty, Short distal phalanx of finger, Hypoplasia of the uterus, Short nose, Intrauteri... |
OMIM:615866 |
Fibrous Dysplasia Of Bone |
|
Rickets, Abnormality of the humerus, Pathologic fracture, Cortical irregularity, Osteomalacia, Th... |
ORPHA:249 |
Immunodeficiency 70 |
|
Decreased circulating total IgM, Decreased circulating total IgA, Decreased circulating total IgG... |
OMIM:618969 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Single umbilical artery, Solitary median maxillary central incisor, Thin vermilion border, Cariou... |
OMIM:613026 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
High palate, Prominent nasal bridge, Underdeveloped nasal alae, Attention deficit hyperactivity d... |
OMIM:618825 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Ruvalcaba Syndrome |
|
Delayed puberty, Cryptorchidism, Proximal placement of thumb, Short nose, Intrauterine growth ret... |
ORPHA:3121 |
Pallister-Hall-Like Syndrome |
|
Postaxial foot polydactyly, Hip dislocation, Micropenis, Glioma, Short nose, Occipital encephaloc... |
OMIM:241800 |
Cri-Du-Chat Syndrome |
|
Self-mutilation, Bifid uvula, Conspicuously happy disposition, Short metatarsal, Hearing impairme... |
OMIM:123450 |
Short Rib-Polydactyly Syndrome |
|
Abnormal long bone morphology, Absent or minimally ossified vertebral bodies, Polydactyly, Short ... |
ORPHA:1505 |
Fibular Hemimelia |
|
Oligodactyly, Short tibia, Toe syndactyly, Short toe, Fibular aplasia, Abnormal morphology of uln... |
ORPHA:93323 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Broad nasal tip, Ankyloglossia, Widely spaced teeth, Septo-optic dysplasia, Broad finger, Smooth ... |
OMIM:619841 |
Coffin-Siris Syndrome 3 |
|
Macroglossia, High palate, Delayed eruption of permanent teeth, Cleft palate, Wide nose, Antevert... |
OMIM:614608 |
Vici Syndrome |
|
Cleft palate, Abnormality of the thymus, Recurrent fungal infections, Decreased proportion of CD4... |
OMIM:242840 |
Brachydactyly, Type E2 |
|
Oligodontia, Delayed eruption of teeth |
OMIM:613382 |
Marshall-Smith Syndrome |
|
Craniosynostosis, Reduced bone mineral density, Open mouth, Retrognathia, Short nose, Choanal atr... |
ORPHA:561 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Open mouth, Broad nasal tip, Overweight, Retrognathia, Abnormality of the ear, Hypoplastic helice... |
ORPHA:391372 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Tooth agenesis, Flattened epiphysis, Truncal obesity, Advanced ossification of carpal bones, Clef... |
OMIM:618363 |
Achondrogenesis Type 2 |
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Hypoplastic ilia, Short ribs, Delayed proximal femoral epiphyseal ossification, Micromelia, Short... |
ORPHA:93296 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
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Hip dysplasia, Protruding ear, Widely spaced teeth, Cupped ear, Polyphagia, Impaired social inter... |
OMIM:156200 |
Acrocraniofacial Dysostosis |
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Craniosynostosis, Short distal phalanx of finger, Partial duplication of the distal phalanx of th... |
ORPHA:949 |
Lead Poisoning |
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Delayed puberty, Decreased male libido, Abnormality of the menstrual cycle, Oligospermia, Small f... |
ORPHA:330015 |
Achondrogenesis |
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Abnormality of bone mineral density, Short nose, Abnormal enchondral ossification, Anteverted nar... |
ORPHA:932 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Intermittent thrombocytopenia, Recurrent infections, Abscess, Recurrent aphthous stomatitis, Neut... |
OMIM:150550 |
Osteosclerosis With Ichthyosis And Fractures |
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Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures |
OMIM:166740 |
Spondyloepiphyseal Dysplasia Tarda |
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Localized osteoporosis, Abnormality of the tibial plateaux, Cleft palate, Flattened femoral head,... |
ORPHA:93284 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Cryptorchidism, Tooth malposition, Absent nares, Bifid uvula, Hypogonadism, External genital hypo... |
ORPHA:2250 |
Immunodeficiency 34 |
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Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis |
OMIM:300645 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Recurrent respiratory infections, Aplastic anemia, Hemophagocytosis, Meningitis, Hepatomegaly, Fu... |
OMIM:308240 |
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