Dentin Dysplasia With Sclerotic Bones |
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Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition |
OMIM:125440 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
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Delayed eruption of teeth, Osteoporosis, Cone-shaped epiphysis, Short philtrum, Dentinogenesis im... |
ORPHA:71267 |
Regional Odontodysplasia |
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Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
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Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
Dentinogenesis Imperfecta |
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Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Dentin Dysplasia, Type I |
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Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Amelogenesis Imperfecta |
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Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Osteogenesis Imperfecta, Type V |
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Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Abnormal pelvic girdle ... |
OMIM:610967 |
Florid Cemento-Osseous Dysplasia |
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Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Amelogenesis Imperfecta, Type Ij |
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Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Anonychia-Microcephaly Syndrome |
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Carious teeth, Clinodactyly of the 5th finger, Abnormality of the dentition |
ORPHA:1094 |
Osteogenesis Imperfecta, Type Xxii |
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Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... |
OMIM:619795 |
Trichodentoosseous Syndrome |
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Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth |
OMIM:190320 |
Dentinogenesis Imperfecta, Shields Type Iii |
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Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Osteogenesis Imperfecta, Type Xix |
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Osteopenia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Bowing of the a... |
OMIM:301014 |
Dentin Dysplasia, Type Ii |
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Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Osteogenesis Imperfecta, Type Xii |
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Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna... |
OMIM:613849 |
Dentin Dysplasia |
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Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
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Epiphyseal stippling, Short femur, Rhizomelia, Short humerus |
OMIM:600121 |
Vitamin D-Dependent Rickets, Type 3 |
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Osteopenia, Bowing of the legs, Flared metaphysis, Elevated circulating alkaline phosphatase conc... |
OMIM:619073 |
Ghosal Hematodiaphyseal Dysplasia |
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Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Otodental Dysplasia |
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Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
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Increased circulating osteocalcin level, Hyperphosphaturia, Elevated alkaline phosphatase of bone... |
ORPHA:157215 |
Osteogenesis Imperfecta, Type Ix |
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Recurrent fractures, Multiple prenatal fractures, Dentinogenesis imperfecta, Decreased calvarial ... |
OMIM:259440 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
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Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
Amelogenesis Imperfecta, Type Ia |
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Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300554 |
Hall-Riggs Syndrome |
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Metaphyseal dysplasia, Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Hyp... |
OMIM:234250 |
Amelogenesis Imperfecta, Type Ie |
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Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Primary Condylar Hyperplasia |
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Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Oligodontia |
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Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Pyle Disease |
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Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t... |
OMIM:265900 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tib... |
OMIM:241530 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Mandibular prognathia, Microretrognathia, Hip contracture, Inguinal hernia, Micrognathia, Carious... |
OMIM:618363 |
Odontochondrodysplasia 1 |
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Delayed eruption of teeth, Recurrent respiratory infections, Short metacarpal, Brachydactyly, Met... |
OMIM:184260 |
Odontochondrodysplasia |
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Delayed eruption of teeth, Bowing of the long bones, Coxa valga, Cone-shaped epiphysis, Joint hyp... |
ORPHA:166272 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... |
OMIM:307800 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
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Generalized hypoplasia of dental enamel, Carious teeth, Flexion contracture, Hip dislocation, Cut... |
OMIM:203550 |
Dent Disease 1 |
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Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300009 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Osteomalacia, Rickets, Renal phosphate wasting, Elevated circulating alkaline phosphatase concent... |
OMIM:193100 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen... |
OMIM:600081 |
Craniosynostosis 3 |
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Hallux valgus, Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right ... |
OMIM:615314 |
Pseudopseudohypoparathyroidism |
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Delayed eruption of teeth, Short metacarpal, Short metatarsal, Osteoporosis, Enamel hypoplasia, B... |
OMIM:612463 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
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Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Dental Ankylosis |
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Mandibular prognathia, Tooth agenesis, Clinodactyly of the 5th finger, Abnormal dental enamel mor... |
ORPHA:1077 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
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Amelogenesis imperfecta |
ORPHA:79129 |
Metaphyseal Chondrodysplasia, Spahr Type |
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Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... |
ORPHA:2501 |
Pfeiffer-Palm-Teller Syndrome |
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Enamel hypoplasia, Joint stiffness |
ORPHA:2871 |
Rhizomelic Dysplasia, Ain-Naz Type |
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Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Shaheen Syndrome |
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Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Femoral bowing, Tibial bowi... |
ORPHA:289157 |
Cleft Palate, Isolated |
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Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Endosteal Hyperostosis, Autosomal Dominant |
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Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal ... |
OMIM:144750 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
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Delayed eruption of teeth, Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short middl... |
ORPHA:63442 |
Amelogenesis Imperfecta, Type Ik |
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Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ... |
OMIM:264700 |
Melorheostosis With Osteopoikilosis |
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Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Microcephalic Primordial Dwarfism, Toriello Type |
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Recurrent respiratory infections, Downturned corners of mouth, Abnormal epiphysis morphology, Ena... |
ORPHA:2643 |
Autosomal Dominant Hypophosphatemic Rickets |
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Hyperphosphaturia, Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Elevated ci... |
ORPHA:89937 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Joint dislocation, Hyperparathyroidism, Recurrent fractures, Osteomalacia, Bone cyst, Genu varum,... |
ORPHA:93160 |
Osteochondrosis Of The Metatarsal Bone |
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Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Trichodental Dysplasia |
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Odontodysplasia, Hypodontia, Conical tooth |
OMIM:601453 |
48,Xyyy Syndrome |
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Thick lower lip vermilion, Recurrent upper respiratory tract infections, Irregularly spaced teeth... |
ORPHA:99329 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
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Dentinogenesis imperfecta |
OMIM:605594 |
Osteogenesis Imperfecta, Type Iii |
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Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... |
OMIM:259420 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
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Scarring alopecia of scalp, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters |
ORPHA:79402 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
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Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Intellectual Developmental Disorder, X-Linked 58 |
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Dental malocclusion, Short philtrum |
OMIM:300210 |
Dent Disease |
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Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay... |
ORPHA:1652 |
Tricho-Dento-Osseous Syndrome |
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Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, Enamel hypominerali... |
ORPHA:3352 |
Fanconi Renotubular Syndrome 2 |
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Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Rickets, Hyperca... |
OMIM:613388 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
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Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
Hypoplastic Femurs And Pelvis |
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Short femur, Hypoplastic pelvis |
OMIM:619545 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
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Carious teeth, Recurrent respiratory infections, Enamel hypoplasia, Thick vermilion border |
ORPHA:363523 |
Fanconi Renotubular Syndrome 1 |
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Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma... |
OMIM:134600 |
Hyperostosis Corticalis Generalisata |
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Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Cranioectodermal Dysplasia |
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Finger syndactyly, Brachydactyly, Abnormal dental enamel morphology, Craniosynostosis, Abnormalit... |
ORPHA:1515 |
Eiken Syndrome |
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Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morphology, Epiph... |
ORPHA:79106 |
Epidermolysis Bullosa, Junctional 1B, Severe |
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Carious teeth, Syndactyly, Enamel hypoplasia, Atrophic scars |
OMIM:226700 |
X-Linked Hypophosphatemia |
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Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... |
ORPHA:89936 |
Amelogenesis Imperfecta, Type Iiib |
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Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Ackerman Syndrome |
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Taurodontia, Broad philtrum |
OMIM:200970 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
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Thin upper lip vermilion, Enamel hypoplasia, Syndactyly |
OMIM:613576 |
Tooth Agenesis, Selective, 7 |
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Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Kohlschutter-Tonz Syndrome |
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Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
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Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... |
ORPHA:2972 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
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Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
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Amelogenesis imperfecta |
OMIM:104500 |
17Q11.2 Microduplication Syndrome |
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Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology |
ORPHA:139474 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
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Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Short Stature, Dauber-Argente Type |
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Delayed eruption of teeth, Long toe, Osteopenia, Arachnodactyly, Decreased fibular diameter, Long... |
OMIM:619489 |
Trichothiodystrophy 9, Nonphotosensitive |
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Joint laxity, High, narrow palate, Dental malocclusion, Brachydactyly |
OMIM:619692 |
Gnathodiaphyseal Dysplasia |
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Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... |
ORPHA:53697 |
Mulibrey Nanism |
|
Dental crowding, Absent frontal sinuses, Thickened cortex of long bones, Hypoplastic frontal sinu... |
OMIM:253250 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Amelogenesis Imperfecta, Type Iiia |
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Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Tooth Agenesis, Selective, 9 |
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Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Lowry-Maclean Syndrome |
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Delayed eruption of teeth, Craniosynostosis, Cleft palate |
OMIM:600252 |
Osteogenesis Imperfecta, Type Xi |
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Osteopenia, Joint laxity, Protrusio acetabuli, Recurrent fractures, Coxa vara, Increased suscepti... |
OMIM:610968 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2222 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp... |
OMIM:614856 |
Vitamin D-Dependent Rickets, Type 2A |
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Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ... |
OMIM:277440 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia, Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Renal Tubular Acidosis, Distal, 1 |
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Impaired urinary acidification, Osteomalacia, Distal renal tubular acidosis, Elevated circulating... |
OMIM:179800 |
Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion, Short distal phalanx of finger |
OMIM:155050 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
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Mandibular prognathia, Tapered finger, Long fingers, Dental malocclusion, High palate |
OMIM:618292 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Recurrent fractures, Micrognathia, Reduced bone mineral density, Microdontia, Coronal... |
OMIM:112240 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia |
ORPHA:79405 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o... |
ORPHA:210110 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Dental malocclusion, Hip dysp... |
ORPHA:1858 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Hypophosphatasia, Adult |
|
Arthropathy, Recurrent fractures, Osteomalacia, Rickets, Low alkaline phosphatase, Increased susc... |
OMIM:146300 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Pneumocystis jirovecii pneumonia, Conical tooth, Recurrent bacterial i... |
OMIM:300636 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Osteoporosis, ... |
OMIM:619718 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Scarring alopecia of scalp, Dental enamel pits |
OMIM:619787 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Osteopenia, Short metacarpal, Joint laxity, Camptodactyly of finger, T... |
OMIM:612350 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Recurrent fractures, High palate, Lambdoidal craniosynostosis, Cor... |
OMIM:616294 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Osteoporosis, Diaphyseal dysplasia, Ma... |
OMIM:614727 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Increased susceptibility to fractures, Reduced bone mineral density, Bowing ... |
OMIM:166220 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Dentinogenesis imperfecta, Hip dislocation, Ost... |
OMIM:616507 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Atrophic scars, Keloids, Enamel hypoplasia |
ORPHA:79406 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, H... |
ORPHA:99879 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Increased connective tissue |
OMIM:226670 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short palm, Thin upper lip vermilion, Short metacarpal, Osteopenia, Dental crowding, Avascular ne... |
OMIM:190351 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Inguinal hernia, Recu... |
ORPHA:61 |
Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Dental malocclusion, Cone-shaped epiphyses of the phalanges... |
OMIM:602849 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous... |
OMIM:613573 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2026 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Osteolysis, ... |
ORPHA:3019 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Scarring alopecia of sca... |
ORPHA:251393 |
Brittle Cornea Syndrome 1 |
|
Joint laxity, Congenital hip dislocation, Dentinogenesis imperfecta, Atypical scarring of skin |
OMIM:229200 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Inguinal hernia, Recurrent fractures, ... |
OMIM:610915 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormality of renal excretion, Coxa vara, Enthesitis, Tibial bowing, Hypocalcemic tetany, Hypoph... |
ORPHA:289176 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Stimmler Syndrome |
|
Microdontia, Abnormal dental enamel morphology |
ORPHA:3199 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Hip dyspl... |
OMIM:166200 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct... |
ORPHA:249 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup... |
OMIM:112350 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Short toe, Short metatarsal, Osteoporosis, Subcutane... |
OMIM:103580 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Delayed eruption of pe... |
OMIM:619269 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... |
OMIM:614669 |
Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia... |
OMIM:212780 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79411 |
Bile Acid Conjugation Defect 1 |
|
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Jau... |
OMIM:619232 |
Renal Tubular Acidosis Iii |
|
Osteomalacia, Rickets, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Nephrocalcino... |
OMIM:267200 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowi... |
OMIM:114000 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Mandibular prognathia, Arthrogryposis multiplex congenita, High palate, Dental malocclusion |
OMIM:608931 |
Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hallux valgus, Dental malocclusion |
OMIM:615541 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture |
OMIM:270200 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Jaundice, Hypocalcemia, Reduced bone mineral density |
ORPHA:172 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the... |
ORPHA:3145 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... |
ORPHA:2025 |
Fanconi-Bickel Syndrome |
|
Elevated gamma-glutamyltransferase level, Ketonuria, Hypouricemia, Osteomalacia, Elevated circula... |
OMIM:227810 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent sinopulmonary infections, Recurrent fractures, Craniosynostosis, Persistenc... |
OMIM:147060 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypopla... |
OMIM:620099 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Axial Osteomalacia |
|
Increased bone mineral density, Renal cyst, Osteomalacia, Elevated circulating creatine kinase co... |
OMIM:109130 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Short metatarsal, Hy... |
ORPHA:79445 |
Qazi-Markouizos Syndrome |
|
Tapered finger, High, narrow palate, Hypoplasia of teeth, Recurrent infections, Delayed ossificat... |
ORPHA:3010 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Hypertriglyceridemia, Diabetes mellitus, Elevated circulati... |
ORPHA:2088 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Dental malocclusi... |
OMIM:601957 |
Specific Granule Deficiency 2 |
|
Osteopenia, Brachydactyly, Sandal gap, Conical tooth, Recurrent pneumonia, Sepsis, Recurrent bact... |
OMIM:617475 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Malar flattening, Dental malocclusion, Widely spaced teeth |
OMIM:616108 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... |
ORPHA:970 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Osteoporosis, Enamel hypoplasia, B... |
OMIM:612462 |
Seckel Syndrome 5 |
|
Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Short... |
OMIM:613823 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Rickets, Parathyroid hyperplasia, Renal phosphate wasting, El... |
OMIM:612089 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Joint stiffness, Metaphyseal widening, Dental malocclusion, Coxa vara, Tibial b... |
OMIM:608940 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow pa... |
OMIM:613684 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Inguinal hernia, Micrognathia, G... |
OMIM:613848 |
Catifa Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Cleft lip, Cleft palate, Increased overbite, Long phi... |
OMIM:618761 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia, Onychomycosis |
OMIM:614564 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Hypophosphatemic rickets, Genu varum |
OMIM:613312 |
Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia |
OMIM:604625 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Cone-shaped epiphyses ... |
OMIM:190350 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... |
OMIM:147891 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hyperphosphaturia, Diabetes mellitus, Hypouricemia, Proteinuria, R... |
OMIM:616026 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Hypoparathyroidism, Hyperphosphaturia, Hyp... |
OMIM:156400 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Delayed cranial suture closure, Small hand, T... |
ORPHA:93324 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Flexion contr... |
ORPHA:88630 |
Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Elevated circulat... |
OMIM:615198 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Osteomalacia, Parathormone-independent increased renal tubula... |
OMIM:600740 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Achilles tendon contracture, Dental maloccl... |
OMIM:619719 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Rickets, R... |
ORPHA:213 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia |
OMIM:616029 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly |
OMIM:613382 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Nephrocalcinosis, De... |
OMIM:611590 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular condyle h... |
OMIM:602483 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Abnormality of the dentition, Clinodactyly, Oligodontia, Short 5th finger,... |
ORPHA:557003 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5th metacarpal, Brachydactyly |
ORPHA:1264 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Dental crowding, Joint hypermobility, Joint stiffness, Tracheobronchomalacia, Pierre-Robin sequen... |
OMIM:619184 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperostosis, Pulp calcification, Taurodontia, Subperiosteal bone formation, Enamel hypoplasia |
OMIM:211900 |
Mccune-Albright Syndrome |
|
Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert... |
ORPHA:562 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Anonychia With Flexural Pigmentation |
|
Carious teeth |
ORPHA:69125 |
48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Inguinal hernia, Recurrent respiratory infections, Abnormal... |
ORPHA:10 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis |
OMIM:602722 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de... |
ORPHA:1782 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp... |
OMIM:618727 |
Braddock-Carey Syndrome 1 |
|
Clinodactyly, Pierre-Robin sequence, Small hand, Cleft palate, Everted lower lip vermilion, Thick... |
OMIM:619980 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino... |
OMIM:615923 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Bowing of the legs, Elevated circulating creatinine concentration, Rickets, Am... |
OMIM:615605 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Metaphyseal dysplasia, Flared metaphysis, Delayed eruption of permanent te... |
OMIM:218400 |
Pycnodysostosis |
|
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi... |
ORPHA:763 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur... |
OMIM:612287 |
Cranioectodermal Dysplasia 4 |
|
Joint hypermobility, Sagittal craniosynostosis, Recurrent pneumonia, Hip dysplasia, Thin vermilio... |
OMIM:614378 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Mcdonough Syndrome |
|
Mandibular prognathia, Micrognathia, Open bite, Dental malocclusion, Short philtrum, Abnormal pal... |
ORPHA:2471 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth |
ORPHA:248 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Larsen-Like Syndrome |
|
Joint laxity, Wide anterior fontanel, Dental malocclusion, Cleft palate, Recurrent otitis media, ... |
OMIM:608545 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Joint laxity, Thin upper lip vermilion, Recurrent urinary tract infections, Exaggerated cupid's b... |
OMIM:619293 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Splenomegaly, Generalized aminoaciduria, Rickets of the lower limbs |
ORPHA:882 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Coxa valga, Ca... |
OMIM:269300 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular ... |
ORPHA:53 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Hypercalciuria, Increased susceptib... |
OMIM:612286 |
Seckel Syndrome 1 |
|
Ivory epiphyses, Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Micro... |
OMIM:210600 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Camptodactyly of finger, Joint... |
ORPHA:137834 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Reduced bone m... |
ORPHA:3079 |
Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Inguinal hernia, Taurodontia, High palate, Widely spaced teeth, Umbilical hernia, E... |
OMIM:618205 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Interphalangeal joint contracture of finger, Swelling of proximal int... |
ORPHA:69087 |
Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Small hand, Short foot, Slender long bone, Recurrent bacterial infections, Short p... |
OMIM:244460 |
Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Genu recurvatum, Abnormality of the kidney, Reduced bone minera... |
ORPHA:2611 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia |
OMIM:612843 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79303 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology,... |
ORPHA:1133 |
Hypophosphatasia, Childhood |
|
Carious teeth, Craniosynostosis, Premature loss of primary teeth, Bowing of the legs |
OMIM:241510 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi... |
ORPHA:2919 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens... |
OMIM:136300 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Micrognathia, Diastema, Dental malocclusion, Malar flattening, Brachydactyly |
ORPHA:436245 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly |
ORPHA:2266 |
Pycnodysostosis |
|
Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ... |
OMIM:265800 |
Scarf Syndrome |
|
Inguinal hernia, Craniosynostosis, Joint hyperflexibility, Short sternum, Long philtrum, Umbilica... |
ORPHA:3134 |
Osteoglosphonic Dysplasia |
|
Inguinal hernia, Craniosynostosis, Micrognathia, Tooth agenesis, Multiple unerupted teeth, Abnorm... |
ORPHA:2645 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Femoral bowing, Abnorm... |
ORPHA:2563 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Hypodontia, Shagreen patch |
ORPHA:1816 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Elevated alkaline phosphatas... |
ORPHA:398063 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... |
OMIM:122860 |
Oncogenic Osteomalacia |
|
Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysp... |
ORPHA:352540 |
Hamamy Syndrome |
|
Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Tape... |
OMIM:611174 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia |
OMIM:183300 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ... |
OMIM:600002 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Crumpled long bones, Protrusio acetabuli, Femoral retroversion, Bowing of the legs, M... |
OMIM:610682 |
Pili Torti |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:2889 |
Familial Expansile Osteolysis |
|
Bowing of the long bones, Osteolysis, Elevated circulating alkaline phosphatase concentration, Hy... |
OMIM:174810 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Hallux valgus, Brachydactyly, Toe syndactyly, Camptodactyly of finger, Ope... |
ORPHA:1327 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Carious teeth, Radioulnar synostosis, Abnormal palate morphology, Abnormality of the dentition |
ORPHA:3270 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Femur fracture, Pancytopenia, Craniosynostosis, In... |
OMIM:259700 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Rocker bottom foot, Wide mouth, Delayed eruption of permanent teeth, Thi... |
OMIM:618506 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Congenital diaphragmatic hernia, Recurrent infections |
ORPHA:99811 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Short thumb, Partial duplication of thumb phalanx, Widely spaced teeth, Enamel hyp... |
OMIM:620193 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of ... |
ORPHA:1525 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Scarring, Delayed eruption of primary teeth, Flexion contracture, Widely s... |
ORPHA:90322 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Oral mucosal blisters, Carious teeth, Atypical scarring of skin, Atrophic scars, Keloids, Enamel ... |
ORPHA:79410 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Abnormality of the u... |
ORPHA:2204 |
Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Bent long bone, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Decreased... |
OMIM:614592 |
Trichorhinophalangeal Syndrome Type 2 |
|
Thin upper lip vermilion, Recurrent urinary tract infections, Abnormality of the dentition, Avasc... |
ORPHA:502 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Carious teeth, Atrophic scars, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79409 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Wide anterior fontanel, Cleft pa... |
OMIM:619736 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Postaxial hand polydactyly, Small hand, Abnormal ora... |
ORPHA:952 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Omphalocele, Recu... |
ORPHA:2484 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Hypercholanemia, Familial 1 |
|
Rickets, Increased serum bile acid concentration |
OMIM:607748 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To... |
ORPHA:2863 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Aplasia/Hypoplasia of the distal phalanges of... |
OMIM:113000 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Thin upper lip vermilion, Recurrent respiratory infections, Micrognathia, Deep philtr... |
ORPHA:329178 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Microdontia,... |
ORPHA:181 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C... |
OMIM:609324 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Joint dislocation, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis of t... |
ORPHA:1901 |
Myopathy, Myofibrillar, 8 |
|
Micrognathia, Distal joint laxity, Achilles tendon contracture, Dental malocclusion, High palate,... |
OMIM:617258 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Absent frontal sinuses, High, narrow palate, Short middle phalanx of the 2nd finger... |
OMIM:119600 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Genu valgum, Glycosuria, Aminoaciduria, Hypophosphat... |
OMIM:618913 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Downturned corners... |
ORPHA:2107 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
Trisomy 4P |
|
Smooth philtrum, Camptodactyly of finger, Abnormality of the dentition, Carious teeth, Preaxial h... |
ORPHA:1738 |
Pseudohypoaldosteronism Type 2 |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth |
OMIM:161000 |
Vascular Malformation, Primary Intraosseous |
|
Umbilical hernia, Ectopic tooth eruption, Gingival bleeding |
OMIM:606893 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Supernumerary tooth, Short metacarpal, Abnormality of the dentition |
ORPHA:627 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Pes planus, Short metacarpal, Epiphyseal dysplasia, Joint stiffness, Avascular necrosis of the ca... |
OMIM:132400 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Abnormal dental enamel morphology, Abnormality of the dentition, Cariou... |
ORPHA:582 |
Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Arthrogryposis multiplex congenita, Enamel hypoplasia, Atrophic scars, Oral mucosal blisters |
OMIM:226730 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly,... |
OMIM:607765 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Thin upper lip vermilion, Dental crowding, Sandal gap, Short toe, Pierre-Robin sequen... |
OMIM:617877 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Carious ... |
OMIM:259710 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Splen... |
OMIM:211600 |
Heimler Syndrome 2 |
|
Dental crowding, Amelogenesis imperfecta |
OMIM:616617 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia, Congenital hip dislocation, Omphalocele |
OMIM:614450 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Amelia involving the lower limbs, Unilateral cleft palate, Craniosynostosi... |
ORPHA:1299 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Recurrent respiratory infectio... |
ORPHA:96263 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Parathormone-independent in... |
ORPHA:405 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Malar flattening, Enamel h... |
OMIM:618874 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, High iliac wing, Hypoplasia ... |
ORPHA:50814 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Abnormal dental enamel morphology, ... |
ORPHA:3236 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology |
ORPHA:231169 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... |
OMIM:277900 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Dental malocclusion, Prominent calcaneus, Slender long bone, Thick ver... |
OMIM:612921 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Osteomalacia, Increased urinary potassium, Chroni... |
ORPHA:3337 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Generalized joint laxity, Genu varum, Patellar hypoplasia, Short femoral ne... |
OMIM:609325 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Increased bone mineral density, Cortical subperiosteal resorption of h... |
ORPHA:94089 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Hypercalcemia, Craniosynost... |
OMIM:614732 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Abnormal dental enamel morphology, Abno... |
ORPHA:1798 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Laron Syndrome |
|
Delayed eruption of teeth, Micrognathia, Short toe, Osteoarthritis, Tooth agenesis, Microdontia, ... |
ORPHA:633 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Microgna... |
ORPHA:2980 |
Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Delayed phala... |
ORPHA:420561 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Abnormal dental morpholo... |
ORPHA:1458 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, T... |
OMIM:619797 |
Craniosynostosis 2 |
|
Bicoronal synostosis, Cleft soft palate, Craniosynostosis, Supernumerary tooth, Triphalangeal thu... |
OMIM:604757 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Micrognathia, Carious teeth, Velopharyngeal insufficiency, De... |
OMIM:613680 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar... |
ORPHA:93346 |
Eem Syndrome |
|
Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely sp... |
ORPHA:1897 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Spina bifida occulta, Short palm |
OMIM:101805 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Gingival... |
OMIM:616331 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Supernumerary tooth, Recurrent upper respiratory tract infections, ... |
OMIM:619752 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Hip contracture, Toe syndactyly, Elevated circulating creatine kinase concentration, ... |
OMIM:616809 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Rocker bottom foot, Micrognathia, Carious teeth, Coxa valga, Flexion c... |
OMIM:214150 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Oligodontia, Cranial hyperostosis, Hypodontia |
OMIM:601345 |
Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis... |
OMIM:302350 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Broad long bones, Dental crowding, Fifth finger distal phalanx clinoda... |
OMIM:257850 |
Van Buchem Disease |
|
Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Cranial ... |
OMIM:239100 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficien... |
OMIM:129400 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
OMIM:157980 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Abnormality of the dentition, Micrognathia, Avascular ... |
ORPHA:77258 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Micrognathia, High, narrow palate, Supernumerary tooth, Small hand, Oligodonti... |
ORPHA:1787 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Rena... |
ORPHA:18 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Recurrent respiratory infections, Abnormal dent... |
ORPHA:96264 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Tapered finger, Wide mouth, High palate, Long philtrum |
OMIM:618825 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Dental crowding, Micrognathia, Dental malocclusion, Wide mouth, High palat... |
OMIM:610883 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Narrow mouth, Ename... |
OMIM:226600 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Sclerotic scapulae, Dental malocclusion, 2-3 finger syndactyly... |
OMIM:269500 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Joint stiffness |
ORPHA:816 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Cleft upper lip, Carious teeth, Clinodactyly, 4-5 finger syndactyly, Hi... |
OMIM:164200 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Hyperparathyroidism, Renal insufficiency, Proteinuria, Hypercalcemia, Bone cyst, ... |
ORPHA:2668 |
Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia, Primary hyperparathyroidism, Nephrolithiasis, Parathyroid carcinoma |
OMIM:617343 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Congenital hip dislocation, Micrognathia, Oral ulcer, Reduced bone mineral... |
OMIM:617052 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, High palate, Microdo... |
ORPHA:536467 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Bowing of the long bones, Increased bone mineral density, Mic... |
OMIM:259775 |
Harrod Syndrome |
|
Arachnodactyly, Dental malocclusion, Abnormal shoulder morphology, Joint hyperflexibility, Abnorm... |
ORPHA:2115 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... |
OMIM:600373 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphos... |
ORPHA:36913 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis |
OMIM:259730 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Osteoporosis, Rickets, Proximal tubulopathy, Type I diabetes mellitus |
OMIM:560000 |
Lessel-Kreienkamp Syndrome |
|
Clinodactyly of the 5th finger, Thin upper lip vermilion, Open mouth, Dental malocclusion |
OMIM:619149 |
Ohdo Syndrome |
|
Joint laxity, Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narr... |
OMIM:249620 |
Dent Disease 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... |
OMIM:300555 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Hyperparathyroidism, Stage 3 chronic kidney disease, Cortical scl... |
OMIM:620366 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Myopathy, Centronuclear, X-Linked |
|
Arachnodactyly, Flexion contracture, Dental malocclusion, Slender toe, High palate |
OMIM:310400 |
Paget Disease Of Bone 4 |
|
Elevated circulating alkaline phosphatase concentration, Osteolysis |
OMIM:606263 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Oligodontia, High palat... |
OMIM:224300 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections, Amelogenesis imperfecta |
OMIM:612783 |
Scarf Syndrome |
|
Inguinal hernia, Short sternum, Lambdoidal craniosynostosis, Long philtrum, Umbilical hernia, Cor... |
OMIM:312830 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand |
OMIM:608257 |
Fanconi Anemia, Complementation Group S |
|
Macrodontia, Proximal placement of thumb, Dental malocclusion, Narrow palate, Clinodactyly, Thick... |
OMIM:617883 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short distal phalanx of toe, Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Mic... |
OMIM:619356 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... |
ORPHA:2050 |
Zimmermann-Laband Syndrome |
|
Hallux valgus, Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior o... |
ORPHA:3473 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Short metacarpal, Flexion contracture, Genu valgum, Irregular epiphyse... |
ORPHA:263463 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Postaxial polydactyly, Recurrent infections, Hip dysplasia, Enamel hypoplasia, Retrognathia |
OMIM:614576 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Decreased skull ossificatio... |
ORPHA:2097 |
Faciocardiomelic Syndrome |
|
Osteopenia, Micrognathia, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypopl... |
OMIM:612731 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnor... |
ORPHA:950 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
Coffin-Siris Syndrome 3 |
|
Joint laxity, Inguinal hernia, Central diaphragmatic hernia, Short distal phalanx of the 5th fing... |
OMIM:614608 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Increased circulating lactate dehydrogenase concentration... |
ORPHA:668 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Halberd-s... |
ORPHA:2635 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Shor... |
OMIM:619638 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot polydactyly, Shor... |
OMIM:258850 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor... |
ORPHA:2176 |
Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, High, narrow palate, Short palm, Failure of eruption of permanent teeth, Tooth mal... |
ORPHA:3238 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit... |
ORPHA:85435 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Seckel Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia, Cone-shaped epiphy... |
ORPHA:808 |
Nail-Patella Syndrome |
|
Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, R... |
ORPHA:2614 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi... |
OMIM:608612 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition |
OMIM:216300 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing |
OMIM:126550 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Down-sloping shoulders, Carious teeth, Joint hyperflexibility, Clinodactyly of the 5th finger, Ma... |
ORPHA:1390 |
Char Syndrome |
|
Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Persistence of primary te... |
ORPHA:46627 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hypodontia, Scarring alopecia of scalp, Oligodontia, Abnormal dental enamel morphology |
ORPHA:59303 |
Gracile Bone Dysplasia |
|
Asplenia, Flared metaphysis, Micropenis, Thin ribs, Slender long bone, Hypocalcemia, Hypoplastic ... |
OMIM:602361 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Multiple impacted teeth, Short clavicles, Type E brachydactyl... |
OMIM:113300 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Brachydactyly, Multiple joint contractures, Selective tooth agenesis, Lack of facial ... |
ORPHA:2959 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
Celiac Disease, Susceptibility To, 1 |
|
Osteoporosis, Rickets, Recurrent aphthous stomatitis, Stomatitis, Enamel hypoplasia |
OMIM:212750 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Gingival overgrowt... |
ORPHA:313855 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Increased spinal bone density, Recurrent... |
ORPHA:329475 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Joint laxity, Inguinal hernia, Grayish enamel, Carious teeth, Epiphyseal d... |
OMIM:253000 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... |
OMIM:617412 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Brachydactyly, Inguinal hernia, Sandal gap, Thick lower lip vermilion,... |
OMIM:614607 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Overlapping toe, Abnormality of the dentition, Carious teeth,... |
ORPHA:363444 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Oliver Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Dental mal... |
ORPHA:2920 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Sub... |
ORPHA:2780 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Femur fracture, Delayed eruption of primary teeth, Micrognat... |
OMIM:619322 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, High palate, Malar flatteni... |
ORPHA:2180 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Joint laxit... |
OMIM:601390 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Brachydactyly, Hypoplasia of ... |
OMIM:101800 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Increased bone mineral densi... |
ORPHA:79444 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Short palm, Finger syndactyly, Inguinal hernia, Camptodactyly of finge... |
ORPHA:915 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Recurrent urinary tract infections, Sandal gap, Joint hypermobility, C... |
OMIM:619229 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Decreased circulati... |
OMIM:241410 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, Macroglossia, Camptodactyly, High palate, Thick vermi... |
OMIM:616354 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Aminoaciduria... |
OMIM:309000 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Dental crowding, Lipoatrophy, Increased subcutaneou... |
ORPHA:2457 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:245660 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Lipoatrophy, Micrognathia, Open bite, Carious teeth, Reduced bone mineral density, Abnormal palat... |
ORPHA:2617 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Joint laxity, Inguinal hernia, Grayish enamel, Carious teeth, Epiphyseal d... |
OMIM:253010 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Syndactyly, Joint laxity, Inguina... |
OMIM:151050 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Short Syndrome |
|
Delayed eruption of teeth, Enlarged epiphyses, Joint laxity, Inguinal hernia, Lipodystrophy, Lipo... |
OMIM:269880 |
Cystinosis, Nephropathic |
|
Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hy... |
OMIM:219800 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum |
ORPHA:3214 |
Immunodeficiency 9 |
|
BCGitis, Recurrent infections, Recurrent aphthous stomatitis, Stomatitis, Amelogenesis imperfecta |
OMIM:612782 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing, High palate, ... |
ORPHA:251028 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Chronic mucocutaneous candidiasis, Recurrent cutaneous fungal i... |
OMIM:613953 |
Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... |
ORPHA:884 |
Temtamy Syndrome |
|
Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, Long philtrum... |
OMIM:218340 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, ... |
ORPHA:411629 |
Cerebellofaciodental Syndrome |
|
Tapered finger, Dental malocclusion, Shortening of all distal phalanges of the fingers, Genu valg... |
OMIM:616202 |
Cherubism |
|
Jaw swelling, Macular scar, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligod... |
OMIM:118400 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent... |
ORPHA:2314 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... |
OMIM:308990 |
Anti-Glomerular Basement Membrane Disease |
|
Arthritis, Persistence of primary teeth |
ORPHA:375 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... |
OMIM:271530 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Carious teeth, Wid... |
OMIM:607812 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermilion, Overjet, ... |
OMIM:618342 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ... |
OMIM:617974 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded maxillary incisors, Abnor... |
ORPHA:2063 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Cl... |
OMIM:615560 |
Sanjad-Sakati Syndrome |
|
Recurrent respiratory infections, Abnormal dental enamel morphology, Patchy osteosclerosis, Abnor... |
ORPHA:2323 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Camptodactyly of finger, Taurodontia, Abnormal dental enamel morphology, Abnormality of the denti... |
ORPHA:3220 |
Localized Scleroderma |
|
Fasciitis, Abnormality of the dentition, Flexion contracture, Dental malocclusion, Abnormal facia... |
ORPHA:90289 |
Usher Syndrome Type 2 |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:231178 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec... |
ORPHA:169090 |
Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Wide mouth, Enamel hypoplasia, Bifid uvula, Abnormality of the dentition |
OMIM:615802 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Par... |
OMIM:617994 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Vertebral fusion, Bowed humerus, Tarsa... |
OMIM:272460 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... |
OMIM:259600 |
Acrocraniofacial Dysostosis |
|
Craniosynostosis, Micrognathia, Tapered finger, Coxa valga, Cleft palate, Ulnar deviation of fing... |
ORPHA:949 |
Cranioectodermal Dysplasia 1 |
|
High, narrow palate, High palate, Widely spaced teeth, Microdontia, Anodontia, Joint laxity, Sagi... |
OMIM:218330 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Micrognathia, Osteoporosis, Clinodactyly of the 5th finger, Clinodactyly |
ORPHA:73272 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost... |
ORPHA:198 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization |
ORPHA:494444 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal ... |
ORPHA:2710 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Dental crowding, Micrognathia, Flexion contracture, High palate, Premature loss of te... |
OMIM:248370 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Osteopenia, Abnormal trabecular bone morpholog... |
ORPHA:2909 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... |
OMIM:617610 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Thrombocytope... |
OMIM:619743 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short philtrum,... |
ORPHA:439822 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Sagittal craniosynostosis, Micrognathia |
OMIM:616901 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Flexion contracture |
OMIM:617105 |
Camurati-Engelmann Disease, Type 2 |
|
Osteopenia, Hip contracture, Knee flexion contracture, Hyperostosis, Elevated circulating alkalin... |
OMIM:606631 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Micrognathia, Abnormality of the dentition, Thick lower lip vermilion, Dental malocclusion, Wide ... |
ORPHA:85321 |
3M Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Congenital hip dislocation, Abnormal dental en... |
ORPHA:2616 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Delayed closure o... |
OMIM:127000 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture |
OMIM:615883 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Joint laxit... |
OMIM:615546 |
Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Abnormal cortical bone morphology, Unilateral renal agenesis |
ORPHA:2512 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Short thumb, Submucous cleft hard palate... |
ORPHA:2712 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Bow... |
OMIM:241500 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... |
OMIM:616963 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Toe syndactyly, Delayed eruption of primary te... |
ORPHA:819 |
Kabuki Syndrome 2 |
|
Joint laxity, Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Hip dislocation, Cle... |
OMIM:300867 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Femoral bowing, I... |
OMIM:602080 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow... |
OMIM:614753 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Increased ur... |
OMIM:239000 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Glycosuria |
OMIM:268315 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Micrognathia, Dental malocclusion, Localized hypoplasia of dental ename... |
ORPHA:73223 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Craniosynostosis, Oral mucosal blisters, Sepsis, Recurrent infections, Atrophic scars, ... |
ORPHA:79396 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Calcium nephrolithiasis, Hypercalcemia, Chronic noninfectious lymphadenopathy, Pituit... |
ORPHA:97289 |
Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Genu v... |
OMIM:300602 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Elevated alkaline phosphatase of bone... |
ORPHA:73 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Limitation of joint mobility, Abnormal rib morphology, Abnormality of the el... |
ORPHA:1486 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Vaginal hernia, Macrodontia, Abnormal dental enamel morp... |
ORPHA:2916 |
W Syndrome |
|
Hypoplasia of the ulna, Broad uvula, Radial bowing, Metatarsus adductus, Submucous cleft hard pal... |
ORPHA:2804 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Hypodontia, Abnormality of the dentition |
ORPHA:289494 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth |
OMIM:272300 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Joint laxity, Thin upper lip vermilion, Dorsocervical fat pad, Down-sloping shoulders, Micrognath... |
ORPHA:391408 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Oligodontia, Hypodontia, Enamel hypoplasia |
OMIM:607626 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Micrognathia, Abnormal tibia morphology, Flexion contrac... |
ORPHA:666 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Carious teeth, Osteopenia, Calvarial hyperostosis |
OMIM:612714 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Abnor... |
ORPHA:3353 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Clinodactyly of the 5th finger, Tapered ... |
OMIM:609638 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... |
ORPHA:2769 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip |
OMIM:616788 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Dental crowding, Lipoatrophy, Limited elbow movement, Micrognathia, Joint stif... |
OMIM:614008 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Hig... |
ORPHA:3258 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham... |
ORPHA:2751 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Overlapping toe, Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth |
ORPHA:457365 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Increased bone mineral densi... |
ORPHA:79443 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Inguinal hernia, Arachnodactyly, Craniosynostosis, Micrognathia, Hypopl... |
OMIM:182212 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets, Stage 5 chronic kidney disease, Proteinuria |
OMIM:219900 |
Hypercholanemia, Familial, 2 |
|
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged n... |
OMIM:619256 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr... |
ORPHA:534 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Hypogonadotropic hypogonadism |
OMIM:615269 |
Blepharo-Cheilo-Odontic Syndrome |
|
Carious teeth, Finger syndactyly, Bilateral cleft lip and palate, Conical tooth |
ORPHA:1997 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor, Brachydactyly, Adducted thumb |
OMIM:620062 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Arthritis, Recurrent bact... |
OMIM:300310 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Recurrent respiratory infections, Selective tooth agenesis, Micrognathia, High, narr... |
OMIM:234100 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Sagittal crani... |
OMIM:614099 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... |
OMIM:606895 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Abnormal dental morphology, ... |
ORPHA:3253 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Tapered finger, Narrow palate, Hypoplasia of teeth, Wide mouth, Short philtrum, Thi... |
OMIM:620250 |
Xfe Progeroid Syndrome |
|
Premature loss of teeth, Absence of subcutaneous fat, Enamel hypoplasia, Corneal scarring |
OMIM:610965 |
Ck Syndrome |
|
Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility |
OMIM:300831 |
Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia, Stage 5 chronic kidney disease, Secondary hyperparathyro... |
ORPHA:280062 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Abnor... |
ORPHA:90321 |
Corneodermatoosseous Syndrome |
|
Abnormal dental enamel morphology, Carious teeth, Abnormal finger morphology, Gingivitis, Short p... |
ORPHA:3194 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Dental malocc... |
OMIM:618975 |
Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid h... |
OMIM:603233 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Hypercalcemia, Recurrent fractures, Polyuria, Splenomegaly, Primar... |
OMIM:239200 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Recurrent respiratory infections, Enamel hypoplasia |
OMIM:243150 |
Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Abnormality of the dentition, ... |
ORPHA:3163 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... |
ORPHA:94068 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi... |
OMIM:601198 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Cleft palate, Hypoplasia of teeth, Recurrent otitis media, Widely spaced teeth, Microdontia |
ORPHA:2728 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Epiphyseal dysplasia, Hyponatremia, Congenital hip dislocation, Calcinosis, Splenomeg... |
OMIM:617913 |
Idiopathic Hypercalciuria |
|
Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat... |
ORPHA:2197 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Conical tooth, Invasive fungal infection, Recurrent mycobacterial infections, Severe ... |
ORPHA:98813 |
Intellectual Disability, Birk-Barel Type |
|
Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma... |
ORPHA:166108 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Thin upper lip vermilion, Bowing of the long bones, Cortical irregularity, Micrognath... |
OMIM:249420 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Inguinal hernia, Metatarsus adductus, Thick lowe... |
OMIM:123450 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Enamel hypoplasia, Chronic mucocutaneous candidiasis, Chronic oral candidiasis |
OMIM:240300 |
Flynn-Aird Syndrome |
|
Carious teeth, Bone cyst, Joint stiffness |
ORPHA:2047 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Osteopenia, Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infecti... |
ORPHA:486 |
Filippi Syndrome |
|
2-4 toe syndactyly, Cutaneous syndactyly, Finger clinodactyly, Thin vermilion border, Short philt... |
OMIM:272440 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Carious teeth, Reduced subcutaneous adipose tissue, Limb joint contracture, Hypodontia |
OMIM:612079 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Thin upper lip vermilion, Natal tooth, Dental crowding, Sagittal craniosynostosis, M... |
OMIM:145420 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Delayed closure of the anterior fontanelle, Wide anterior fontanel... |
OMIM:614886 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
Kilquist Syndrome |
|
Mandibular prognathia, Coxa valga, 2-3 toe syndactyly, Hypoplasia of teeth, Wide mouth |
OMIM:619080 |
Epiphyseal Dysplasia, Baumann Type |
|
Carpal bone aplasia, Pes planus, Epiphyseal dysplasia, Joint laxity, Hypoplasia of the femoral he... |
OMIM:610797 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Developmental And Epileptic Encephalopathy 100 |
|
Recurrent respiratory infections, Tented upper lip vermilion, Micrognathia, Protruding tongue, Bi... |
OMIM:619777 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Dental ma... |
ORPHA:1855 |
Knobloch Syndrome 2 |
|
Recurrent respiratory infections, Enamel hypoplasia, Micrognathia |
OMIM:618458 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Infantile Myofibromatosis |
|
Hypercalcemia, Abnormality of the kidney, Bone cyst, Limitation of joint mobility, Osteolysis, Ab... |
ORPHA:2591 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Hiatus hernia, Persistence of primary teeth, Recurrent upper respiratory tract i... |
OMIM:619769 |
Oslam Syndrome |
|
Carious teeth, Radioulnar synostosis, Clinodactyly of the 5th finger |
ORPHA:2760 |
Trisomy 9P |
|
Dental crowding, Non-midline cleft lip, Impacted tooth, Downturned corners of mouth, Clinodactyly... |
ORPHA:236 |
Atkin-Flaitz Syndrome |
|
Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor... |
ORPHA:1193 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
Chime Syndrome |
|
Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,... |
ORPHA:3474 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D... |
OMIM:605282 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl... |
ORPHA:33364 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Ankylosis, Abnormal... |
ORPHA:659 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Hypercalcemia, Renal hamartoma, Primary hyperparathyroidism, Osteoporosis, N... |
ORPHA:99880 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of the 5th fin... |
ORPHA:2636 |
Hypophosphatasia |
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Bowing of the long bones, Hypercalcemia, Recurrent fractures, Craniosynostosis, Abnormal rib morp... |
ORPHA:436 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
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Hepatomegaly, Increased urine succinate level, Congestive heart failure, Decreased plasma free ca... |
OMIM:619048 |
Hypocalcemia, Autosomal Dominant 2 |
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Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
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Tapered finger, Supernumerary tooth, Thin vermilion border, Thick vermilion border, Malar flatten... |
ORPHA:86818 |
Fibrodysplasia Ossificans Progressiva |
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Hallux valgus, Progressive cervical vertebral spine fusion, Ectopic ossification in tendon tissue... |
OMIM:135100 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
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Abnormal dental morphology, Abnormal dental enamel morphology, Aplastic clavicle, Micrognathia, T... |
ORPHA:85199 |
Rhyns Syndrome |
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Osteopenia, Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnor... |
ORPHA:140976 |
Proteus Syndrome |
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Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Thin bony cortex |
OMIM:176920 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
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Natal tooth, Recurrent lower respiratory tract infections, Ankle flexion contracture, Micrognathia |
OMIM:617802 |
Carpenter Syndrome 1 |
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Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... |
OMIM:201000 |
Odontomicronychial Dysplasia |
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Premature eruption of permanent teeth |
OMIM:601319 |
Genetic Recurrent Myoglobinuria |
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Elevated hepatic transaminase, Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise... |
ORPHA:99845 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
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Finger syndactyly, Abnormal dental enamel morphology, Joint stiffness, Hip dislocation, Short mid... |
ORPHA:1005 |
Osteopetrosis, Autosomal Recessive 5 |
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Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Splenomegaly, Leukocy... |
OMIM:259720 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Hallermann-Streiff Syndrome |
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Natal tooth, Recurrent fractures, Tracheomalacia, Micrognathia, Abnormality of the dentition, Hig... |
ORPHA:2108 |
Juvenile Nephropathic Cystinosis |
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Abnormal long bone morphology, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular... |
ORPHA:411634 |
Parathyroid Carcinoma |
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Renal insufficiency, Hypercalcemia, Renal hamartoma, Primary hyperparathyroidism, Osteoporosis, N... |
ORPHA:143 |
Multiple Pterygium Syndrome, Escobar Variant |
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Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ... |
OMIM:265000 |
Hajdu-Cheney Syndrome |
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Osteopenia, Joint laxity, Inguinal hernia, Micrognathia, Absent frontal sinuses, Dental malocclus... |
OMIM:102500 |
Rothmund-Thomson Syndrome, Type 2 |
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Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Micrognathia, Short... |
OMIM:268400 |
Nephronophthisis 2 |
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Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
Alopecia Antibody Deficiency |
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Recurrent respiratory infections, Abnormality of dental color |
ORPHA:1006 |
Osteopathia Striata With Cranial Sclerosis |
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Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli... |
OMIM:300373 |
Atelosteogenesis Type Ii |
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Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Hypoplastic cervical ve... |
ORPHA:56304 |
Chronic Mucocutaneous Candidiasis |
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Recurrent respiratory infections, Recurrent urinary tract infections, Abnormal dental enamel morp... |
ORPHA:1334 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Mandibular prognathia, Advanced eruption of teeth, High palate |
OMIM:262190 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
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Abnormal dental enamel morphology |
ORPHA:257 |
Mandibulofacial Dysostosis With Alopecia |
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Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
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Delayed eruption of teeth, Natal tooth, Hip dislocation, Oligodontia, Hypodontia |
OMIM:614381 |
Takenouchi-Kosaki Syndrome |
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Thin upper lip vermilion, Inguinal hernia, Overlapping toe, Proximal placement of thumb, Tapered ... |
OMIM:616737 |
Faciodigitogenital Syndrome, Autosomal Recessive |
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Syndactyly, Vertebral fusion, Inguinal hernia, Down-sloping shoulders, Metatarsus adductus, Trism... |
OMIM:227330 |
Chronic Atrial And Intestinal Dysrhythmia |
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Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Femoral-Facial Syndrome |
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Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor... |
ORPHA:1988 |
Diabetes Insipidus, Neurohypophyseal |
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Osteopenia, Decreased circulating osteocalcin level, Central diabetes insipidus |
OMIM:125700 |
Rothmund-Thomson Syndrome Type 2 |
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Osteopenia, Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger, Genu varum, S... |
ORPHA:221016 |
Coffin-Lowry Syndrome |
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Hypoplasia of the maxilla, High palate, Widely spaced teeth, Advanced eruption of teeth, Short me... |
ORPHA:192 |
Cerebellar-Facial-Dental Syndrome |
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Inguinal hernia, Foot joint contracture, Micrognathia, Tapered finger, Dental malocclusion, Alveo... |
ORPHA:444072 |
Rothmund-Thomson Syndrome Type 1 |
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Delayed eruption of teeth, Osteopenia, Short metacarpal, Abnormal trabecular bone morphology, Abn... |
ORPHA:221008 |
Schimke Immuno-Osseous Dysplasia |
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Wide capital femoral epiphyses, Abnormal femoral head morphology, Abnormal primary molar morpholo... |
ORPHA:1830 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... |
OMIM:156500 |
Lenz-Majewski Hyperostotic Dwarfism |
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Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
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Narrow mouth, Cleft palate, Recurrent infections, Thin vermilion border, Long philtrum, Incisor m... |
OMIM:615502 |
Paget Disease Of Bone 3 |
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Fractures of the long bones, Elevated circulating alkaline phosphatase concentration, Osteolysis,... |
OMIM:167250 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
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Carious teeth, Joint contracture of the 5th finger, Arachnodactyly, Camptodactyly of finger |
ORPHA:1883 |
Hypoparathyroidism, Familial Isolated, 2 |
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Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se... |
OMIM:618883 |
Langer Mesomelic Dysplasia |
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Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Amelogenesis Imperfecta, Type Ig |
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Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
Brachydactylous Dwarfism, Mseleni Type |
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Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint... |
ORPHA:2619 |
Recon Progeroid Syndrome |
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Joint laxity, Prominence of the premaxilla, Dental crowding, Arachnodactyly, Proximal placement o... |
OMIM:620370 |
Neu-Laxova Syndrome |
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Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Hypogonadism, Arthrogryposi... |
ORPHA:2671 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
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Hip contracture, Abnormality of the knee, Broad radial metaphysis, Protrusio acetabuli, Broad fem... |
ORPHA:99642 |
Kleefstra Syndrome 1 |
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Mandibular prognathia, Natal tooth, Recurrent respiratory infections, Protruding tongue, Persiste... |
OMIM:610253 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
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Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79403 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
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Natal tooth, Scarring alopecia of scalp, Short philtrum, Cleft palate |
OMIM:617337 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasia of the distal... |
ORPHA:364577 |
Gnathodiaphyseal Dysplasia |
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Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
Osteoglophonic Dysplasia |
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Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... |
OMIM:166250 |
Osteogenesis Imperfecta, Type Xviii |
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Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, F... |
OMIM:617952 |
Blomstrand Lethal Chondrodysplasia |
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Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Aplastic... |
ORPHA:50945 |
Lowry-Maclean Syndrome |
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Osteopenia, Inguinal hernia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the m... |
ORPHA:2409 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
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Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars... |
OMIM:617102 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
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Short palm, Micrognathia, Carious teeth, Trismus, Tapered finger, Adducted thumb, Elbow flexion c... |
OMIM:272430 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
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Hypospadias, Dilated cardiomyopathy, Flexion contracture, Micropenis, Bradycardia, Hypertrophic c... |
OMIM:618815 |
Hypoparathyroidism, Familial Isolated, 1 |
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Hypoparathyroidism, Decreased circulating parathyroid hormone level, Nephrocalcinosis, Hyperphosp... |
OMIM:146200 |
Distal Duplication 18Q |
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Abnormal dental morphology, Arachnodactyly, Camptodactyly of finger, Micrognathia, Carious teeth,... |
ORPHA:1716 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler... |
OMIM:618476 |
Pelviscapular Dysplasia |
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Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, Hypercalcemia, Cranio... |
ORPHA:251004 |
Autosomal Recessive Malignant Osteopetrosis |
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Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splenomegaly, Abnormal rib morph... |
ORPHA:667 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Elevated circulating creatine kinase concentration, Osteolysis, Increased susceptibility to fract... |
ORPHA:52430 |
Gapo Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Joint hyperflexibility, Abnormal ... |
ORPHA:2067 |
2P21 Microdeletion Syndrome |
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Nephrolithiasis, Hypogonadism, Hypocalcemia, Cystinuria |
ORPHA:163693 |
Ivic Syndrome |
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Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
Nephronophthisis 16 |
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Renal insufficiency, Stage 5 chronic kidney disease, Aortic valve stenosis, Pulmonic stenosis, Po... |
OMIM:615382 |
Pachyonychia Congenita |
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Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia |
ORPHA:2309 |
Familial Multiple Lipomatosis |
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Odontogenic keratocysts of the jaw, Bowing of the long bones, Lipodystrophy, Increased adipose ti... |
ORPHA:199276 |
Autosomal Dominant Hypocalcemia |
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Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, ... |
ORPHA:428 |
Agammaglobulinemia 4, Autosomal Recessive |
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Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Chronic sinusitis |
OMIM:613502 |
Cockayne Syndrome A |
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Mandibular prognathia, Hip contracture, Reduced subcutaneous adipose tissue, Delayed eruption of ... |
OMIM:216400 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
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Delayed eruption of teeth, Oligodontia, Hypodontia |
ORPHA:447896 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Chronic sinusitis, Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Cartilage-Hair Hypoplasia |
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Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Short palm, Neutropenia, Abnormal bone... |
ORPHA:175 |
Phelan-Mcdermid Syndrome |
|
Micrognathia, Dental malocclusion, 2-3 toe syndactyly, Recurrent infections, High palate, Widely ... |
OMIM:606232 |
Lipoyltransferase 1 Deficiency |
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Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Bradycardia, Pulmonary arterial h... |
OMIM:616299 |
Aggressive Systemic Mastocytosis |
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Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... |
ORPHA:98850 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Broad hallux, Overlapping toe, Micrognathia, Genu valgum, Broad thumb, Contracture of the proxima... |
ORPHA:293967 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Pancytopenia, Elevated hepatic transaminase, Recurrent urinary tract in... |
OMIM:613658 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Thin upper lip vermilion, Syndactyly, Brachydactyly, Velopharyngeal insufficiency, Submucous clef... |
OMIM:614701 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... |
OMIM:618729 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Exaggerated cupid's bow, Recurrent infections, Fused teeth, High palate, S... |
OMIM:300896 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia, Mildly elevated creatine kinase |
OMIM:620265 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Advanced eruption ... |
OMIM:617865 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Arthrogryposis And Ectodermal Dysplasia |
|
Abnormal dental enamel morphology, Cleft upper lip, Cleft palate, Orofacial cleft, Atypical scarr... |
OMIM:601701 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Recurre... |
OMIM:613493 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Arthropathy, Diabetes mellitus, Increased circulating ferritin con... |
ORPHA:79230 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hypocalcemia, Anemia, Lymphadenopathy |
ORPHA:100025 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ... |
ORPHA:93325 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Elevated circulating alkaline phosphatase concentration, Paget disease of bone, Elevated circulat... |
OMIM:615422 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Short palm, Micrognathia, Hypoplastic ilia, Patellar ... |
ORPHA:85201 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Severe cytomegalovirus infection, Conical incisor, Molluscum contagiosum, Recurrent bacterial inf... |
OMIM:300291 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti... |
OMIM:619381 |
Prolidase Deficiency |
|
Recurrent respiratory infections, Recurrent cystitis, Arachnodactyly, Micrognathia, Carious teeth... |
ORPHA:742 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Decreased fibular diameter, Micrognathia, Multiple pre... |
OMIM:616897 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Short humerus, Hypoplastic scapulae, Omphalo... |
OMIM:309350 |
Dyskeratosis Congenita |
|
Recurrent respiratory infections, Recurrent fractures, Abnormality of the dentition, Hypoplasia o... |
ORPHA:1775 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Anterior open-bite malocclusion |
ORPHA:83601 |
Osteopetrosis With Renal Tubular Acidosis |
|
Abnormal circulating enzyme concentration or activity, Pancytopenia, Recurrent fractures, Elevate... |
ORPHA:2785 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... |
OMIM:268305 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short palm, Dental crowding, Abnormality of the dentition, Micrognathia, Unilateral radial aplasi... |
ORPHA:476126 |
Trichothiodystrophy 3, Photosensitive |
|
Carious teeth, Natal tooth, Recurrent infections, Eclabion |
OMIM:616395 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal met... |
ORPHA:2370 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Syndactyly, Micrognathia, Cleft lip, Clinodactyly, Dental malocclusion, Gingival ove... |
OMIM:616894 |
Costello Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Thick lower lip vermilion, Narro... |
ORPHA:3071 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Hallux valgus, Dental crowding, Broad hallux, S... |
OMIM:614188 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Carious teeth, Deep philtrum, Thick lower lip vermilion, Thin vermilion border, Abnormal palate m... |
ORPHA:2701 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercho... |
OMIM:612526 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ... |
ORPHA:158687 |
Atelis Syndrome 1 |
|
Carious teeth, Recurrent infections, High palate, Long philtrum |
OMIM:620184 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Recurrent respiratory infections, Abnormal dental m... |
ORPHA:2136 |
Schwartz-Jampel Syndrome |
|
Micrognathia, Coxa vara, High palate, Wrist flexion contracture, Pursed lips, Increased bone mine... |
ORPHA:800 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal mor... |
ORPHA:1328 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone... |
ORPHA:94090 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath... |
OMIM:203330 |
Noonan Syndrome 4 |
|
Wide mouth, Thick vermilion border, Dental malocclusion |
OMIM:610733 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Hyperparathyroidism, Short femur, Wide cranial sutures, Recurrent fractures, Metaphys... |
OMIM:618188 |
Camurati-Engelmann Disease |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Increased bone mineral density, Cario... |
OMIM:131300 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Lipodystrophy, Micrognathia, Hypoplasia of the ... |
OMIM:209885 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Brachydactyly, Delayed ossification of carpal bones, Short femoral neck, Reduced bone mineral den... |
OMIM:618392 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t... |
ORPHA:2750 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... |
OMIM:211380 |
Duplication Of The Pituitary Gland |
|
Abnormality of joint mobility, Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide... |
ORPHA:314621 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Inguinal hernia, Tapered finger, Abnormality of the dentition, Thick lower lip vermi... |
ORPHA:261652 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Hypoplasia of teeth |
OMIM:234050 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Flexion contracture of finger, Brachydactyly, Lipoatrophy, Recurrent f... |
OMIM:601812 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Delayed puberty |
OMIM:615271 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Limited hip extension, Bowing of the legs,... |
OMIM:100800 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Cleft palate, Abnormal fibula mor... |
ORPHA:1812 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth,... |
ORPHA:79408 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Pachyonychia Congenita 2 |
|
Oral leukoplakia, Natal tooth, Angular cheilitis |
OMIM:167210 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Hip subluxation, Reduced bone mineral density |
OMIM:620200 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstiti... |
OMIM:619902 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infecti... |
ORPHA:331235 |
Immunodeficiency 12 |
|
Recurrent viral infections, Clubbing, Cheilitis, Osteoporosis, Recurrent bacterial infections, Re... |
OMIM:615468 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Osteopenia, Proteinuria, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia, B... |
OMIM:611555 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Supernumerary tooth, Widely spaced teeth, Hypodontia, Microdontia |
ORPHA:90024 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Conical tooth, M... |
ORPHA:1071 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive... |
ORPHA:247353 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:618235 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent otitis media, Chronic sinusitis, R... |
OMIM:612692 |
Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Coxa valga, Sagittal craniosynostosis, Craniosynostosis, ... |
OMIM:616580 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Clinodactyly, Thick vermilion border, Everted lower lip vermilion, Hig... |
OMIM:615866 |
Hermansky-Pudlak Syndrome 2 |
|
Thin upper lip vermilion, Chronic oral candidiasis, Carious teeth, Recurrent pneumonia, Recurrent... |
OMIM:608233 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Martin-Probst Syndrome |
|
Micrognathia, Thick lower lip vermilion, Dental malocclusion, Wide mouth, Umbilical hernia, Malar... |
OMIM:300519 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Joint laxity, Arachnodactyly, Broad hallux, Dental malocclusion, High palate, Short finger, Malar... |
OMIM:601552 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy... |
ORPHA:157965 |
8P Inverted Duplication/Deletion Syndrome |
|
Micrognathia, High, narrow palate, Long fingers, Abnormality of dental eruption, Hip dislocation,... |
ORPHA:96092 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Smooth philtrum, Finger syndactyly, Inguinal hernia, Abnormality of the dentit... |
ORPHA:1786 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital... |
ORPHA:2239 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Omphalocele, Hamartoma of tongue, Postaxial polydactyly, Cleft li... |
OMIM:616300 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Abnormal pelvic girdle bone morphology, Paget disease of bone, Elevated alkaline phosphatase of b... |
OMIM:167320 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se... |
OMIM:614868 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:568 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Inguinal hernia, Split hand, Thick lower lip vermilion, Flexion contra... |
OMIM:309900 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Duplication of thumb phalanx, Conical tooth, Carious teeth, Abnormal thumb morphology, Hypodontia... |
OMIM:620192 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Abnormality of the dentition... |
ORPHA:96169 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Abnormality of dental color, Recurrent fractures, Abnormal toe morphology, Abnormal f... |
OMIM:163200 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis, Hypoalbum... |
ORPHA:37042 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Erosion of oral mucosa, Recurrent urinary tract infections, Abnormal oral mucosa morphology, Abno... |
ORPHA:79404 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin level, Ab... |
ORPHA:2410 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Thin upper lip vermilion, Hypoplastic distal radial epiphyses, Recurrent respiratory ... |
OMIM:182250 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... |
ORPHA:93307 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Proteinuria, Abnormal circulating fatty-acid concentration, Hyperi... |
ORPHA:263455 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Idiopathic Congenital Hypothyroidism |
|
Umbilical hernia, Delayed proximal femoral epiphyseal ossification, Bradycardia, Neonatal hyperbi... |
ORPHA:95717 |
Emanuel Syndrome |
|
Broad jaw, Chronic oral candidiasis, Inguinal hernia, Congenital hip dislocation, Dental crowding... |
OMIM:609029 |
Usher Syndrome |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:886 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo... |
ORPHA:2363 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Inguinal hernia, Exaggerated cupid's bow, Arachnodactyly, Camptodactyly of fin... |
ORPHA:2215 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,... |
OMIM:240500 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Renal insufficiency, Proteinuria, Ankle swelling, Wrist swelling, Stage 5 chronic kid... |
OMIM:166300 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo... |
ORPHA:1110 |
Treacher-Collins Syndrome |
|
Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, H... |
ORPHA:861 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Joint stiffness, Reduced bone mineral density, Abnormal hip bone morph... |
ORPHA:577 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex... |
OMIM:608836 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Abnormal dental enamel ... |
ORPHA:464 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiac ... |
OMIM:212138 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Congestive heart failure, Myocarditis, Hypovolemia, Abnormal b... |
ORPHA:31824 |
Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Hernia, Finger syndactyly, Abnormal dental morphology, Abnormal ... |
ORPHA:2092 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism |
OMIM:615266 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Open bite, Abnormality of the ... |
OMIM:115150 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Inguinal hernia, Congenital hip dislocation, Dental crowdin... |
ORPHA:96170 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Osteomyelitis, Thrombocytopenia, Hepatitis, Arthritis, Hyp... |
ORPHA:47 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevat... |
OMIM:613327 |
Pachydermoperiostosis |
|
Osteomyelitis, Elevated circulating growth hormone concentration, Splenomegaly, Limitation of joi... |
ORPHA:2796 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corners of mouth, Short phi... |
ORPHA:1507 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Short palm, Hypoplastic iliac wing, Spina bifida occulta, Gingival ove... |
OMIM:235510 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m... |
OMIM:618371 |
Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Reduced bone mineral density, Glossoptos... |
ORPHA:828 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Diffuse Cutaneous Systemic Sclerosis |
|
Carious teeth, Flexion contracture, Osteolysis, Arthritis, Narrow foramen obturatorium |
ORPHA:220393 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho... |
ORPHA:1896 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Brachydactyly, Craniosynostosis, Micrognathia, Carious teeth, Absent thum... |
ORPHA:96097 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteolysis, Lymphaden... |
ORPHA:100024 |
Oculoskeletodental Syndrome |
|
Renal agenesis, Hypercalcemia, Splenomegaly, Elbow flexion contracture, Hypercalciuria, Mucopolys... |
OMIM:618440 |
Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Osteopenia, Sinusitis, Osteomyelitis, Recurrent viral infections, Cari... |
ORPHA:811 |
Andersen-Tawil Syndrome |
|
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi... |
ORPHA:37553 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co... |
ORPHA:94086 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Lipodystrophy, Cellulitis, Advanced er... |
ORPHA:2348 |
Immunodeficiency 49 |
|
Natal tooth, Umbilical hernia, Short philtrum, Micrognathia |
OMIM:617237 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Arachnodactyly, Carious teeth, Brachydactyly |
ORPHA:377 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Increased susceptibility to fractures, Recurrent fractures, Femoral bowing |
OMIM:615066 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Tented upper lip vermilion, Overlapping toe, Proximal ... |
ORPHA:487796 |
Familial Adenomatous Polyposis 1 |
|
Carious teeth, Supernumerary tooth, Eruption failure, Multiple lipomas, Odontoma, Keloids |
OMIM:175100 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive h... |
ORPHA:330001 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Cockayne Syndrome B |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Delayed eruption of primary teeth, Ca... |
OMIM:133540 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Elevated circulating alkaline phosphatase concentration, Osteoporosis |
ORPHA:529665 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Splenomegaly, Nephropathy, Elevated circulating creatinine concentrati... |
ORPHA:29073 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Foot oligodactyly, Amelia |
OMIM:601357 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Nephrolith... |
OMIM:606407 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Estrogen Resistance Syndrome |
|
Osteopenia, Elevated tissue non-specific alkaline phosphatase, Increased circulating gonadotropin... |
ORPHA:785 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Abnormalit... |
ORPHA:783 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Dental crowding, Persistence of primary teet... |
ORPHA:97360 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Inguinal hernia, Arachnodactyly, Pr... |
ORPHA:284984 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Hyperammonemia, Bradycardia, Hyperalaninemia, Hypertroph... |
OMIM:614702 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney |
OMIM:615285 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Overlapping toe, Micr... |
OMIM:619148 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... |
OMIM:305600 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Inguinal hernia, Large for gestational age, Umbilical hernia, Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Broad hallux, Cleft soft palate, Accessory oral frenulum, Type A brachydactyly, C... |
OMIM:620107 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Osteopenia, Inguinal hernia, Congenital hip dislocation, Lipodystrophy... |
ORPHA:2962 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur... |
OMIM:180849 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Metaphyseal wid... |
ORPHA:93357 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... |
OMIM:231095 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, High, narrow palate, Downturned corners of mouth, Bifid uvula, Joint laxity, Exaggera... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, High, narrow palate, Downturned corners of mouth, Bifid uvula, Joint laxity, Exaggera... |
ORPHA:352665 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Hypocalcemia, Nephropathy, Hypothyroidism, Short distal ... |
ORPHA:1563 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Postaxial hand polydact... |
OMIM:610829 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Hamartoma of tongue, Micrognathia, Postaxial polydactyly, Cleft lip, Wide anterior f... |
OMIM:617925 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Conical incisor, Radial deviation of the 3rd finge... |
OMIM:149730 |
Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypopl... |
OMIM:603457 |
Opsismodysplasia |
|
Short metacarpal, Anterior rib cupping, Squared iliac bones, Hypoplastic pubic bone, Flat acetabu... |
OMIM:258480 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Inguinal hernia, Joint stiffness, Carious teeth,... |
OMIM:253200 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Osteomyelitis, Recurrent urinary tract infections, Elevated circulating crea... |
ORPHA:36234 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Decreased circulating cortisol level, Hypopar... |
ORPHA:199299 |
Johanson-Blizzard Syndrome |
|
Microdontia, Oligodontia, Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:2315 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Thin upper lip vermilion, Joint hypermobility, Carious teeth, High palate, Long philtrum, Smooth ... |
OMIM:620191 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Ring Chromosome 10 Syndrome |
|
Renal hypoplasia/aplasia, Sandal gap, Hypocalcemia, Tapered finger |
ORPHA:1438 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... |
OMIM:608022 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact... |
ORPHA:87 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ... |
ORPHA:439232 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Ulnar deviation of the wrist, Elbow contracture, Pa... |
OMIM:618162 |
Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Hyperphosphaturia, Calcification of the auricular cartilage, Elevated al... |
ORPHA:51608 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border |
OMIM:620114 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalc... |
OMIM:601678 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentr... |
ORPHA:94093 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
Monosomy 18P |
|
Micrognathia, Carious teeth, Cleft palate, Downturned corners of mouth, Short philtrum, Hypodonti... |
ORPHA:1598 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Chand Syndrome |
|
Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol... |
ORPHA:1401 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat... |
ORPHA:289 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Tapered finger, Long fingers, Calcaneovalgus d... |
ORPHA:521445 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Accessory oral frenulum, Postaxial polydactyly, Supernumerary tooth, Postaxial ... |
OMIM:617088 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Hyperpepsinogenemia I, Cardiom... |
OMIM:615745 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Carious teeth, Premature loss of teeth, Oral leukoplakia |
OMIM:616353 |
Timothy Syndrome |
|
Prolonged QT interval, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Bradycardia... |
OMIM:601005 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Micrognathia, ... |
OMIM:247200 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint dislocation, Recurrent urinary tract infections, Joint stiffness, Splenomegaly, Reduced bon... |
OMIM:620210 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Recurrent upper respiratory tract inf... |
ORPHA:508542 |
Sotos Syndrome |
|
Mandibular prognathia, Joint laxity, High, narrow palate, Long metacarpals, Narrow jaw, Narrow pa... |
OMIM:117550 |
7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Short lingual frenulum, Craniosynostosis, Micrognathia... |
ORPHA:96121 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, High palate, Wid... |
OMIM:143095 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gout, Hypertension, Foc... |
OMIM:232200 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Cystic Echinococcosis |
|
Elevated hepatic transaminase, Eosinophilia, Abscess, Jaundice, Bone cyst, Renal cyst, Membranous... |
ORPHA:400 |
Autosomal Dominant Robinow Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Downturned corners of m... |
ORPHA:3107 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Tetanus |
|
Tachycardia, Stiff neck, Elevated circulating creatine kinase concentration, Elevated urinary nor... |
ORPHA:3299 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent otitis media,... |
OMIM:607594 |
Cohen Syndrome |
|
Short metacarpal, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Tapered finger, S... |
OMIM:216550 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Gardner Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Odontoma, Multiple unerupted teeth, Lipoma, Ke... |
ORPHA:79665 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
ORPHA:280365 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Familial Thyroid Dyshormonogenesis |
|
Delayed proximal femoral epiphyseal ossification, Bradycardia, Umbilical hernia, Abnormal circula... |
ORPHA:95716 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Elevated hepatic iron con... |
ORPHA:231222 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Overlapping toe, Craniosynostosis, Gingival overgrowth, Narrow palate, High palate, ... |
OMIM:123790 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Hyperalaninemia, Bradycardia |
OMIM:614654 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Carious teeth, Narrow mouth, Wide ant... |
OMIM:219200 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Amelogenesis imperfecta |
OMIM:248190 |
Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Hypodontia, Furrowed tongue |
ORPHA:140936 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, ... |
OMIM:303600 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, High palate, Clinoda... |
ORPHA:235 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Hypocalcemia, Neutropenia, Hyp... |
ORPHA:699 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the ma... |
OMIM:305100 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Delayed epiphyseal ossification, Bradycardia, Umbilical hernia, Absent... |
ORPHA:226313 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Gm1-Gangliosidosis, Type Ii |
|
Coxa valga, Joint stiffness, Splenomegaly, Patent ductus arteriosus, Decreased beta-galactosidase... |
OMIM:230600 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Wide mouth |
ORPHA:1231 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Patent ductus arteriosus, Anemia, T... |
ORPHA:2123 |
Lead Poisoning |
|
Delayed eruption of teeth, Cranial hyperostosis |
ORPHA:330015 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Overlapping toe, Micrognathia, Carious teet... |
OMIM:613026 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Reduced bone ... |
ORPHA:1508 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Recurrent viral infections, Recurrent pneumonia, Recurrent ba... |
OMIM:243700 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Rocker bottom foot, Micrognathia, Carious teeth, Tapered finger, Alveolar ridge overgrowth, Downt... |
OMIM:620070 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Osteopenia, Inguinal hernia, Congenital hip dislocation, Lipodystrophy... |
ORPHA:2834 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Recurrent respiratory infections, Tented upper ... |
ORPHA:261494 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Flexion contracture, Hyperammonemia, Bradycardia, Camptodactyly |
OMIM:610015 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytop... |
ORPHA:848 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ... |
OMIM:268310 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Sandal gap, Hypospadias, Patent ductus arteriosus, Hypoplasia of the ... |
OMIM:607143 |
Johnson Neuroectodermal Syndrome |
|
Carious teeth, Preaxial hand polydactyly, Cleft palate, Hand polydactyly, Everted lower lip vermi... |
ORPHA:2316 |
Analbuminemia |
|
Patent ductus arteriosus, Osteoporosis, Elevated circulating transferrin concentration, Increased... |
OMIM:616000 |
Ane Syndrome |
|
Multiple joint contractures, Lipoatrophy, Carious teeth, Hypodontia, Premature loss of teeth |
ORPHA:157954 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Natal tooth, Recurrent urinary tract infections, Recurrent respiratory infections, ... |
ORPHA:353281 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Broad hallux, Sandal gap, Persistence of primary teeth, Supernumerary ... |
OMIM:300166 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Joint laxity, Narrow palate, Recurrent infections, Short upper lip, Thick ... |
ORPHA:364028 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gout, Hyp... |
OMIM:232220 |
Adamantinoma |
|
Pathologic fracture, Hypercalcemia |
ORPHA:55881 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Recurrent herpes, Sinusitis, Recurrent viral infections, Recurr... |
ORPHA:572 |
H Syndrome |
|
Hypertriglyceridemia, Lipodystrophy, Recurrent fractures, Abnormality of the kidney, Abnormal car... |
ORPHA:168569 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc... |
OMIM:143880 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short femur, Dental crowding, Micrognathia, ... |
OMIM:300990 |
Mannosidosis, Alpha B, Lysosomal |
|
Mandibular prognathia, Inguinal hernia, Gingival overgrowth, Femoral bowing, Macroglossia, Recurr... |
OMIM:248500 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Congestive heart failure, Splenomegaly, Flexion contracture, Nephrotic... |
OMIM:617303 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro... |
OMIM:278000 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Elevated circul... |
OMIM:276700 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Sh... |
OMIM:300106 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Joint hyperflexib... |
ORPHA:77301 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Carious teeth, Osteoporosis, Oral ulcer, Gingivitis, Increased susceptibility to frac... |
ORPHA:79259 |
Carpenter Syndrome 2 |
|
High, narrow palate, Preaxial polydactyly, Coxa vara, Knee flexion contracture, Cutaneous finger ... |
OMIM:614976 |
Poikiloderma With Neutropenia |
|
Joint laxity, Micrognathia, Carious teeth, Joint stiffness, Recurrent bronchopulmonary infections... |
OMIM:604173 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Microdontia, Carious teeth, Oral leukoplakia, Osteoporosis |
OMIM:224230 |
Rhyns Syndrome |
|
Osteopenia, Renal insufficiency, Radial bowing, Decreased response to growth hormone stimulation ... |
OMIM:602152 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Osteopenia, Congenital hip dislocation, Inguinal he... |
OMIM:278250 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Sinusitis,... |
ORPHA:83471 |
Chromomycosis |
|
Ankylosis, Osteolysis, Atypical scarring of skin, Recurrent bacterial infections, Abnormal oral c... |
ORPHA:182 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Failure to thrive, Joint contracture of the 5th finger, Bradycardia, Atrioventricular block |
OMIM:614407 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Syndactyly, Median cleft lip, Bowed forearm bones, Bilateral cleft lip, Sandal gap, ... |
OMIM:612651 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potass... |
ORPHA:79102 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious... |
ORPHA:369837 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodact... |
ORPHA:2908 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Smooth tongue, Short tibia... |
OMIM:601559 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Ramon Syndrome |
|
Delayed eruption of teeth, Juvenile rheumatoid arthritis, Gingival fibromatosis, Narrow palate |
OMIM:266270 |
Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... |
OMIM:618849 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Delayed eruption of teeth, Hyperextensibility of the finger joints, Short ... |
OMIM:135500 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Low neutrophil al... |
OMIM:245480 |
Cockayne Syndrome Type 3 |
|
Carious teeth, Enamel hypoplasia, Flexion contracture |
ORPHA:90324 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Elevated circulating alkaline phosphatase concentration, Renal cyst, Increased total bilirubin |
OMIM:174050 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Limb joint contracture, Tapered finger, Flexion contracture, Alveolar ... |
OMIM:301072 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Hypogonadism, Osteoporosis, Absence of pubertal development |
OMIM:615267 |
Cln3 Disease |
|
Left ventricular hypertrophy, T-wave inversion, Urinary bladder sphincter dysfunction, Bradycardia |
ORPHA:228346 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... |
OMIM:617222 |
Paget Disease Of Bone 6 |
|
Elevated circulating alkaline phosphatase concentration, Nephrocalcinosis, Osteoarthritis, Recurr... |
OMIM:616833 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Clinodactyly, Short philtrum |
OMIM:603585 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Bloom Syndrome |
|
Syndactyly, Recurrent upper respiratory tract infections, Agenesis of maxillary lateral incisor, ... |
OMIM:210900 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia, Coxa valga |
OMIM:191420 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Bowing of the long bones, Recurrent fractures, Camptod... |
ORPHA:3206 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Odontoma, Supernumerary tooth, Lipoma |
ORPHA:247806 |
Nasu-Hakola Disease |
|
Bone cyst, Limitation of joint mobility, Acute leukemia, Reduced bone mineral density, Abnormal e... |
ORPHA:2770 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Absent leukocyte alkaline phosphatase |
OMIM:242880 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Distal Deletion 12Q |
|
Median cleft lip, Broad hallux, Overlapping toe, Micrognathia, High, narrow palate, Supernumerary... |
ORPHA:96149 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Reduced circulating aldolase concentration, Jaundice, Chronic kidney disease... |
ORPHA:469 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Abnormal dental morphology, Delayed eruption of primary teet... |
ORPHA:191 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thyroid lymphangiectasia, Splenomegaly, Postaxial hand polydactyly, Hypocalcemia, Micropenis, Hep... |
OMIM:235255 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Broad hallux, Deviation of the hallux, Hamartoma of tongue, Accessory oral fre... |
ORPHA:434179 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Chronic oral candidiasis, Recurrent urinary tract infections, Recurrent ear infection... |
ORPHA:221139 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Deep philtrum, High palate, Open mouth, Retrogna... |
ORPHA:1675 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Osteopenia, Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Clubbing of fingers, Bone... |
OMIM:614742 |
Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
Gapo Syndrome |
|
Micrognathia, High, narrow palate, Wide anterior fontanel, Thick lower lip vermilion, Eruption fa... |
OMIM:230740 |
Estrogen Resistance |
|
Osteopenia, Increased circulating osteocalcin level, Elevated alkaline phosphatase of bone origin... |
OMIM:615363 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Hypogonadism, Osteoporosis, Delayed puberty |
OMIM:615270 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Tricuspid regurgitation, Achilles tendon contracture, Osteoporosis, Bradycardia,... |
OMIM:620351 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent infections, Recurrent bacterial infections, Recurrent fu... |
ORPHA:2688 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Recurrent en... |
OMIM:307200 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Dental crowding, Abnormality of the d... |
ORPHA:769 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Iron deficiency anemia, Tub... |
ORPHA:358 |
Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Reduced bone mineral density, Abnorm... |
ORPHA:1414 |
Monosomy 22Q13.3 |
|
Dental crowding, Dental malocclusion, Umbilical hernia, Clinodactyly of the 5th finger, Malar fla... |
ORPHA:48652 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Joint laxity, Duplicated collecting system, Elevated circulating aspartate aminotransferase conce... |
OMIM:617093 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Clubbing, Hypokalemia, Clubbing of fingers, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated hepatic transaminase, Hypercalcemia, Exercise-induced myoglobinuria, Abnormal lactate de... |
ORPHA:284426 |
Tuberous Sclerosis 1 |
|
Dental enamel pits, Gingival fibromatosis, Shagreen patch |
OMIM:191100 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Advanced eruption of ... |
ORPHA:818 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaund... |
OMIM:214900 |
Adnp Syndrome |
|
Joint laxity, Thin upper lip vermilion, Inguinal hernia, Recurrent urinary tract infections, Broa... |
ORPHA:404448 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Proteinuria, Joint stiffness, Heparan sulfate excretion in ... |
ORPHA:505248 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Super... |
OMIM:615948 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l... |
ORPHA:369950 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Inguinal hernia, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teet... |
ORPHA:2250 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Arachnodactyly, Sandal gap, Joint hypermobility, Carious teeth, Congenital diaph... |
OMIM:617602 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Syndactyly, Inguinal hernia, Micrognathia, Carious teeth, Velopharynge... |
OMIM:223370 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Osteopenia, Pancytopenia, Portal hypertension, Bone marrow hypocellularity, Abnormally low T cell... |
OMIM:617341 |
Primary Intestinal Lymphangiectasia |
|
Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia... |
ORPHA:90362 |
Cinca Syndrome |
|
Joint dislocation, Elevated circulating C-reactive protein concentration, Abnormality of neutroph... |
ORPHA:1451 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... |
OMIM:613095 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Lymphadenopathy, Anemia, Hematuria, Thrombocytopenia |
ORPHA:69077 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Aortic regurgitation, Hepatomegaly, Inguinal hernia, Increased serum beta-hexosaminid... |
OMIM:252500 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Genu valgum, Small pituitary gland, Micropenis |
OMIM:614880 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Limb joint contracture, Bradycardia |
OMIM:619814 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent respiratory infections, Recurrent herpes, Recurrent urinary tract infections, Recurrent... |
ORPHA:183675 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Splenomegaly, Postaxial hand polydactyly, Abnormal renal morphology, Hepatosplenomegaly, Hypocalc... |
ORPHA:1655 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Thick lower lip vermilion, Rec... |
ORPHA:1465 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Hypercalcemia, Hurthle cell thyroid adenoma, Nephrolithiasis, Papillary rena... |
OMIM:145001 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Low alkaline phosphatase, Brachydactyly |
OMIM:618879 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Long philtrum, Thick lower lip vermilion, Mesiodens, Narrow mouth |
ORPHA:314647 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Recurrent urinary tract infections, Abnormality of the dentition |
ORPHA:2036 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Micrognathia, Widely spaced teeth, Short philtrum... |
OMIM:619841 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Neutrophilia, Abscess, Elevated circulating C-reactive protein concent... |
OMIM:612852 |
Bruck Syndrome 2 |
|
Osteopenia, Wormian bones, Flexion contracture, Elbow flexion contracture, Knee flexion contractu... |
OMIM:609220 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypospadias, Abnormality of the kidney, Maturit... |
OMIM:137920 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Joint contracture, Bradycardia |
OMIM:614498 |
Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, High, narrow palate, ... |
OMIM:122470 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth |
OMIM:300952 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone co... |
OMIM:618183 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Hypospadias, Rocker bottom foot, Thrombocytope... |
ORPHA:163979 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Inguinal hernia, Micrognathia, Supernumerary tooth, Osteoporosis, Recurrent otitis media, Ankylog... |
OMIM:619525 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Natal tooth, Brachydactyly, Median cleft lip, Hypoplastic scapulae, Inguinal hernia,... |
OMIM:269860 |
Primary Biliary Cholangitis |
|
Portal hypertension, Conjugated hyperbilirubinemia, Abnormality of the thyroid gland, Jaundice, O... |
ORPHA:186 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Broad hallux, Supernumerary... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, High palate, Joint laxity, Syndactyly, Broad hallux, Supernumerary... |
ORPHA:353277 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio... |
ORPHA:911 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Overlapping toe, Abnormality of the kidney, Reduced bone mineral density |
ORPHA:466926 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Conjugated hyperbilirubinemia, Renal cyst, Elevated gamma-gl... |
OMIM:614866 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
Lathosterolosis |
|
Elevated hepatic transaminase, Toe syndactyly, Increased mean platelet volume, Acanthocytosis, In... |
OMIM:607330 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial ne... |
OMIM:616629 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... |
OMIM:610984 |
Richards-Rundle Syndrome |
|
Reduced bone mineral density, Ketonuria, Hypergonadotropic hypogonadism, Joint stiffness |
ORPHA:1399 |
Familial Adenomatous Polyposis |
|
Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Lipoma, Abnormal c... |
ORPHA:733 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Elevated alkali... |
OMIM:616828 |
Pitt-Hopkins Syndrome |
|
Tapered finger, Hiatus hernia, Broad fingertip, Short metatarsal, Small hand, Wide mouth, Finger ... |
ORPHA:2896 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ... |
ORPHA:438216 |
Restrictive Dermopathy 1 |
|
Natal tooth, Limb joint contracture, Rocker bottom foot, Micrognathia, Wide anterior fontanel, An... |
OMIM:275210 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... |
ORPHA:173 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Splenomegaly, Anemia... |
OMIM:612301 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Inguinal hernia, Hypospadias, Bradycardia, Pulmonary arterial hypertension, Failure to thrive |
OMIM:619272 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Internally rotat... |
OMIM:619503 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Short toe, Orofacial cleft, Thin vermilion border, Everted lower ... |
ORPHA:1519 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Hip dysplasia, Retrognathia |
ORPHA:466722 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Recurrent respiratory infections, Inguinal hernia, Abnormal morphology of ... |
ORPHA:93 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Raynaud phenomenon, Weight loss, Pulmonary venous hypertension, Abnormality of conn... |
ORPHA:79128 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Anuria, Leukocytosis, Hyperkale... |
ORPHA:544482 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Carious teeth, Premature loss of teeth, Osteoporosis, Oral leukoplakia |
OMIM:127550 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Myoglobinuria, Hyperkalemia, Ventricular tachycardia, Prema... |
ORPHA:423 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Increased circ... |
ORPHA:26793 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Sinusitis, Recurrent viral infections, Recurrent opportunisti... |
OMIM:613179 |
Felty Syndrome |
|
Recurrent urinary tract infections, Splenomegaly, Thrombocytopenia, Limitation of joint mobility,... |
ORPHA:47612 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Fractures of the long bones, Splenomegaly, Osteolysis, Hepatosple... |
ORPHA:464329 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Noonan Syndrome 1 |
|
Micrognathia, High, narrow palate, Dental malocclusion, Cleft palate, Synovitis, High palate, Rad... |
OMIM:163950 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Aminoaciduria, Bradycardia, Micropenis, Failure to thrive |
OMIM:220120 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Genu valgum, Reduced bone mineral density, Hypogonadism, Spina bifida occulta |
ORPHA:2983 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Metaphyseal widening, Triangular shaped distal phalanges of the ha... |
ORPHA:73230 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Abnormality of cartilage of external ear, Hypocalcemia, Truncus arteriosus, A... |
ORPHA:3426 |
Free Sialic Acid Storage Disease |
|
Splenomegaly, Nephrotic syndrome, Proteinuria, Reduced bone mineral density |
ORPHA:834 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Primary Hyperoxaluria |
|
Recurrent fractures, Abnormality of the dentition, Generalized osteosclerosis, Rootless teeth, Ab... |
ORPHA:416 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Splenomegaly, Osteolysis, Lymphadenopathy |
ORPHA:391 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Jaundice, Bicarbonatur... |
OMIM:229600 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Prominent fingertip pads, M... |
OMIM:615873 |
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:616917 |
Proximal Renal Tubular Acidosis |
|
Enamel hypomineralization, Reduced bone mineral density |
ORPHA:47159 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bon... |
OMIM:301078 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Limb und... |
OMIM:602557 |
Werner Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate ... |
OMIM:277700 |
Campomelic Dysplasia |
|
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel... |
OMIM:114290 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Genu recurvatum, Reduced bone mineral density, Joint hyperflexibility, Slender long bone, Cubitus... |
ORPHA:1185 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Decreased s... |
ORPHA:79239 |
Cerebrocostomandibular Syndrome |
|
Short humerus, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft soft palate, Mic... |
OMIM:117650 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Proximal placement of thumb, Micrognathia, Hypoplasia of the maxilla, Lim... |
OMIM:261540 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Dupuytren contracture, Acute hepatitis, Limited elbow movement, Ja... |
ORPHA:39812 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Joint stiffness, Patent ductus arteriosus, Broad phalanges of the hand, Broad r... |
OMIM:277600 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Redu... |
ORPHA:1488 |
46,Xx Gonadal Dysgenesis |
|
Osteopenia, Streak ovary, Arachnodactyly, Increased circulating gonadotropin level, Reduced bone ... |
ORPHA:243 |
Hermansky-Pudlak Syndrome |
|
Abnormal dental enamel morphology |
ORPHA:79430 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Abnormality of the gingiva, Tibial bowing, Short philtrum, High palate, Wide anteri... |
ORPHA:798 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Small for gestational age, Elevated circulating C-reactive protein con... |
ORPHA:90051 |
Liver Disease, Severe Congenital |
|
Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concentration, Join... |
OMIM:619991 |
Loeys-Dietz Syndrome 3 |
|
Joint laxity, Uterine prolapse, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Craniosynos... |
OMIM:613795 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, Cystic renal... |
OMIM:615415 |
Opitz Gbbb Syndrome |
|
Omphalocele, Natal tooth, Inguinal hernia, Craniosynostosis, Micrognathia, Congenital diaphragmat... |
ORPHA:2745 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Hypocalcemia, Vesicoureteral reflux, Hypothyroidism, Hypoparathyroidism... |
ORPHA:567 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Elevated urinary norepinephrine level, Elevated ur... |
ORPHA:94080 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype... |
ORPHA:73224 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal age... |
ORPHA:2237 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Arrhythmia, Bradycardia |
OMIM:609286 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Erythrodontia, Osteolysis, Corneal scarring, Atypical scarring of skin, Pathologic fr... |
OMIM:263700 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Oral ulcer, Gingivitis, Recurrent bacterial infections, Chronic oral candidiasis, Stomati... |
OMIM:308230 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Pallister-Hall Syndrome |
|
Natal tooth, Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, ... |
OMIM:146510 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con... |
OMIM:615424 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Grade II v... |
OMIM:619377 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Generalized b... |
OMIM:215250 |
Adrenomyodystrophy |
|
Abnormality of the urinary system, Primary adrenal insufficiency, Megacystis, Reduced bone minera... |
ORPHA:977 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-... |
ORPHA:829 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Small for gestational age, Elevated circulating creatine kinase con... |
OMIM:618775 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... |
ORPHA:470 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Elevated circu... |
ORPHA:263501 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Brad... |
ORPHA:90673 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Narrow greater sciatic notch, Short palm,... |
OMIM:312870 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Scarring, Conical tooth, Oligodontia, Hypodontia |
OMIM:308300 |
Hutchinson-Gilford Progeria Syndrome |
|
Short lingual frenulum, Dental crowding, Micrognathia, Osteoarthritis, Reduced bone mineral densi... |
ORPHA:740 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Chronic hepatic failure, Hypocalcemia, Equinus calcaneus |
ORPHA:746 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Joint stiffness, Flexion contracture, Reduced bone mineral density, Type I diabetes mellitus, Abn... |
ORPHA:1979 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Abnormal renal corticomedullary differentiation, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Williams-Beuren Syndrome |
|
Hallux valgus, Osteopenia, Joint laxity, Inguinal hernia, Recurrent urinary tract infections, Dow... |
OMIM:194050 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis |
OMIM:239199 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Broad 2nd toe, Cleft lip, Clinodactyly, Thick lower l... |
OMIM:280000 |
Craniofacioskeletal Syndrome |
|
Hypospadias, Patent ductus arteriosus, Small hand, Short foot, Hypocalcemia, Short palm, Clinodac... |
OMIM:300712 |
Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Small for gestational age, Bradycardia, Hypotension |
ORPHA:391673 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Dental crowding, Cleft upper lip, Aplasia/Hypoplasia of the phal... |
OMIM:219000 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Doors Syndrome |
|
Short lingual frenulum, Abnormal finger morphology, Downturned corners of mouth, Widely spaced te... |
ORPHA:79500 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Broad hallux, Vesicoureteral reflux, Shortening of all distal phalanges of the fingers, Elevated ... |
OMIM:614749 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Congenital hip dislocation, Cleft maxillary alveolar ridge, Finger clinodactyly, ... |
ORPHA:508488 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... |
OMIM:614473 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Reduced bone mineral den... |
OMIM:620232 |
Vici Syndrome |
|
Recurrent respiratory infections, Everted upper lip vermilion, Median cleft lip, Cleft upper lip,... |
OMIM:242840 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Say-Barber-Miller Syndrome |
|
Craniosynostosis, Micrognathia, Carious teeth, Hip dislocation, Elbow flexion contracture, Patell... |
ORPHA:3132 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Splenomegaly, Jaundice, Intrahepatic cholestasis, Elevated circula... |
OMIM:235555 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Tetrasomy 9P |
|
Recurrent urinary tract infections, Median cleft lip and palate, Dental crowding, Abnormal dental... |
ORPHA:3310 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Inguinal hernia, Recurrent urinary tract infections, Cleft soft palate, Tapered fi... |
ORPHA:268261 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... |
ORPHA:31826 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Failure to thrive, Delayed proximal femoral epiphyseal ossification, Umbilical hernia, Bradycardi... |
ORPHA:90674 |
Pgm3-Cdg |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent viral infections, Recurrent pneumonia,... |
ORPHA:443811 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Recurrent bacterial skin infections, Erythrodontia, Scarring, Scarring alopecia of sc... |
ORPHA:95159 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, 11 pairs of ribs, Severe B lymphocytopenia, Dela... |
OMIM:620005 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia... |
OMIM:194080 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... |
OMIM:210710 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Elevated circulating creatine kinase concentration, Sinus bradycardia, Second degree atrioventric... |
OMIM:616812 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
Fraser Syndrome |
|
Omphalocele, Finger syndactyly, Toe syndactyly, Dental crowding, Cleft upper lip, Dental malocclu... |
ORPHA:2052 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Metaphyseal chondrodysplasia, Enlargement of the wrists, Large knee, Reduced bone mineral density |
ORPHA:83629 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Xp21 Deletion Syndrome |
|
Joint laxity, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine ... |
ORPHA:261476 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circula... |
OMIM:605814 |
Greenberg Dysplasia |
|
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomel... |
OMIM:215140 |
Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Abnormal dental enamel morphology, Macrodactyly, Metatarsus val... |
ORPHA:744 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Angulated humerus, Bowing of the long bones, Multiple rib fractures, Recurrent fractu... |
OMIM:616229 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Tapered finger, Short toe, Abnormal renal morphology, Elevated circulating alkaline phosphatase c... |
OMIM:239300 |
Williams Syndrome |
|
Osteopenia, Micrognathia, Microdontia, Clinodactyly of the 5th finger, Spina bifida occulta, Join... |
ORPHA:904 |
Alg9-Cdg |
|
Omphalocele, Hepatomegaly, Hypoplasia of the bladder, Tricuspid regurgitation, Lipodystrophy, Ure... |
ORPHA:79328 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Recurrent viral infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Re... |
OMIM:102700 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Joint hypermobility, Genu valgum |
OMIM:617798 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Thickening of the tubular basement membrane, Portal hypertension, ... |
ORPHA:84081 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth |
OMIM:617799 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in... |
OMIM:615816 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Sepsis, Short philtrum, Joint contracture of the 5th finger, Prominent fingertip pads... |
ORPHA:363611 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... |
ORPHA:2235 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... |
OMIM:610489 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Recurrent upper respiratory tract infections, Recurrent pneumoni... |
ORPHA:51636 |
Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Short femur, Micrognathia, Short toe, Genu valgum,... |
OMIM:616145 |
Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Stiff neck, Elevated circulating C-reactive protein concentration, My... |
ORPHA:319213 |
Xq12-Q13.3 Duplication Syndrome |
|
Decreased serum insulin-like growth factor 1, Elevated circulating creatine kinase concentration,... |
ORPHA:314389 |
Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth |
OMIM:180920 |
Small Cell Carcinoma Of The Bladder |
|
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia |
ORPHA:284400 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Scarring, Abnormality of the dentition, Carious teeth, A... |
ORPHA:158668 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Joint stiffness, Broad metatarsal, Patent ductus arteriosus, Elbow flexion cont... |
OMIM:608328 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Myeloproliferative Disease, Autosomal Recessive |
|
Reduced leukocyte alkaline phosphatase, Myeloproliferative disorder |
OMIM:254700 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Recurrent joint dislocation, Recurrent fractures, Joint hypermobility, Reduced bone mineral density |
OMIM:619115 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Hepatomegaly, Craniosynostosis, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... |
ORPHA:216694 |
Boudin-Mortier Syndrome |
|
Joint laxity, Mallet finger, Long toe, Arachnodactyly, Elevated alkaline phosphatase of bone orig... |
OMIM:619543 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Recurrent fractures, Long fingers, Osteoporosis, Long ha... |
OMIM:309583 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Coxa vara, Reduced bone mineral density, Tibial bowing, Iron deficiency anemia, Hypoplastic iliac... |
ORPHA:93315 |
Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... |
OMIM:150400 |
Restrictive Dermopathy |
|
Osteopenia, Natal tooth, Multiple joint contractures, Camptodactyly of finger, Micrognathia, Subm... |
ORPHA:1662 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
OMIM:619662 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Diabetes mellitus, Increased circulating thyroglobulin level, Sagittal craniosynostos... |
OMIM:610199 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Thyroidi... |
ORPHA:64744 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Avascular necrosis of the capital femoral epip... |
OMIM:613990 |
Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Conical tooth, Prominent interphalangeal joints, Short philtrum,... |
OMIM:135900 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:601495 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Partial development of the penile shaft, Bradycardia |
OMIM:608800 |
Phakomatosis Pigmentovascularis |
|
Reduced bone mineral density |
ORPHA:2875 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... |
ORPHA:2839 |
Floating-Harbor Syndrome |
|
Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, Clinodactyly... |
OMIM:136140 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Recurrent mycobacterial infections, Clubbing, Recurrent otiti... |
ORPHA:244 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Inguinal hernia, Recurrent urinary tract infec... |
OMIM:612541 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, ... |
ORPHA:508 |
Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level |
OMIM:610768 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Congenital hip dislocation, Congenital diaphragmatic hernia, Microgna... |
OMIM:601803 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Elevated ... |
OMIM:619484 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Alveolar ridge overgrowth, Corneal scarring, Painless fractures due to ... |
ORPHA:642 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Low alkaline phosphatase, Ankle flexion contracture |
OMIM:619985 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp... |
OMIM:145981 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Recurrent respiratory infections, Inguinal hernia, Abnormal pelvis bone morphology, ... |
ORPHA:2273 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull... |
OMIM:619727 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Neoplasm of the thyroid gland, Recurrent fractures, Reduced bone mineral density |
ORPHA:137608 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis, Osteopetrosis |
OMIM:612840 |
Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Renal insufficiency, Hyper... |
ORPHA:95409 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Splenomegaly, Ureteral atresia, Stage 5 c... |
OMIM:208540 |
Leukocyte Adhesion Deficiency |
|
Recurrent urinary tract infections, Sinusitis, Severe periodontitis, Osteomyelitis, Recurrent sta... |
ORPHA:2968 |
Acute Panmyelosis With Myelofibrosis |
|
Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Bradycardia, Congenital foot contractures |
ORPHA:565624 |
Ogden Syndrome |
|
Global glomerulosclerosis, Inguinal hernia, Cardiomegaly, Ventricular tachycardia, Premature vent... |
OMIM:300855 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Splenomegaly, Elevated circulating alkaline phosphatase concentrat... |
OMIM:613489 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Micrognathia, High, narrow palate, Abnormal finger m... |
ORPHA:3472 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Natal tooth, Recurrent respiratory infections, Broad ha... |
OMIM:620186 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Reduced bone minera... |
ORPHA:168558 |
Cystic Fibrosis |
|
Osteopenia, Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurr... |
ORPHA:586 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... |
OMIM:605258 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Thin bony co... |
OMIM:605822 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections |
OMIM:608957 |
Meckel Syndrome, Type 1 |
|
Omphalocele, Thin upper lip vermilion, Natal tooth, Bowing of the long bones, Syndactyly, Camptod... |
OMIM:249000 |
Charge Syndrome |
|
Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Abnormal tibia morph... |
ORPHA:138 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Proteinuria, Avascular necrosis of the capital femoral epiphysis, Elevated cir... |
ORPHA:247691 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocell... |
OMIM:613989 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Increased susceptibility to fractures, Reduced bone m... |
ORPHA:561 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:613500 |
Floating-Harbor Syndrome |
|
Short metacarpal, Brachydactyly, Persistence of primary teeth, Hypoplasia of the maxilla, Carious... |
ORPHA:2044 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Congenital hip dislocation, Micrognathia, Patellar ap... |
OMIM:606170 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, V... |
ORPHA:116 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Decreased circulating parathyroid hor... |
OMIM:188400 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat... |
ORPHA:276621 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrahepatic cholest... |
OMIM:613812 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Ele... |
OMIM:601847 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia |
ORPHA:35710 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Flexion contracture, Downturned corners of mouth, Genu varum, Long toe, Absence of ... |
OMIM:264090 |
Kindler Syndrome |
|
Carious teeth, Periodontitis, Oral leukoplakia, Gingivitis |
OMIM:173650 |
Sarcoidosis |
|
Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hypothyroidis... |
ORPHA:797 |
Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Absent thumb, Bone marrow hypocellularity, Pelvic kidney, Anemia |
OMIM:617244 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infection... |
ORPHA:731 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Limited hip extension, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hy... |
OMIM:614653 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Telangiectasia of the skin, Multiple lipomas, Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent lower respiratory tract infecti... |
OMIM:613501 |
Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Paraganglioma of head and neck, Elevated urinary catecholamine level, Hypercalcemia... |
ORPHA:653 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat... |
ORPHA:29072 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:608266 |
Sheehan Syndrome |
|
Hyponatremia, Orthostatic hypotension, Obesity, Hyposthenuria, Palpitations, Bradycardia |
ORPHA:91355 |
Al-Gazali Syndrome |
|
Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Broad distal pha... |
OMIM:609465 |
Al Amyloidosis |
|
Renal insufficiency, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormal... |
ORPHA:85443 |
Trichohepatoneurodevelopmental Syndrome |
|
Joint laxity, Overlapping toe, Splenomegaly, Patent ductus arteriosus, Hip dislocation, Short foo... |
OMIM:618268 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Lymphopenia, Hypocalcemia |
ORPHA:2306 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Tachycardia, Recurrent myoglobinuria, Elevated circulating creatine kinase concentrat... |
ORPHA:368 |
Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Renal insufficiency, Elevated circulating creatine kinase conce... |
ORPHA:99826 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Acute hepatic failure, Elevated hepatic transaminase, Abnormal eosinophil morphology,... |
ORPHA:171 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Small hand, Abnormal rib morphology, Short foot, Micropenis, Spina bifida occulta, Th... |
ORPHA:488434 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia, Weight loss |
ORPHA:221098 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Abnormal lef... |
ORPHA:99827 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Reduced bone mineral density, Ureterocele, Vesicoureteral reflux... |
ORPHA:2911 |
Encephalitis Lethargica |
|
Urinary incontinence, Stiff neck, Bradycardia |
ORPHA:83600 |
Chediak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Gingivitis, Recurren... |
OMIM:214500 |
Proximal Spinal Muscular Atrophy |
|
Multiple joint contractures, Flexion contracture, Elbow flexion contracture, Knee flexion contrac... |
ORPHA:70 |
Cornelia De Lange Syndrome |
|
Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Downturned corners of... |
ORPHA:199 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Arachnodactyly, Abnormality of neutrophils, Reduced bone mineral density, Abnormal hip bone morph... |
ORPHA:2720 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur... |
OMIM:145980 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Knee dislocation, Hypoa... |
OMIM:619534 |
Chédiak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent staphylococcal i... |
ORPHA:167 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Metaphyseal sclerosis, Thrombocytopenia, Osteoporosis, Incr... |
OMIM:612199 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical ... |
OMIM:130650 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Osteomyelitis, Recurrent infection of the gastrointestinal tract,... |
OMIM:608184 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Increased circulating lactate dehydrogenase concentrat... |
ORPHA:86841 |
Caroli Disease |
|
Liver abscess, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, In... |
ORPHA:53035 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, Hypothyroidism,... |
OMIM:609053 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing, Thin ribs, Decreased calvar... |
OMIM:620076 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Dental crowding, Down-sloping shoulders, Cleft upper lip, High, narrow palate, Clinod... |
OMIM:309800 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hand monodactyly,... |
OMIM:214800 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ... |
OMIM:605479 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Low alkaline phosphatase, Decreased serum zinc, Hypogonadism, Decreased serum testo... |
OMIM:201100 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Micrognathia, Abnormal tibia morphology, Bone cyst, Genu valgum, Abnormality of the sp... |
ORPHA:363700 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Yellow Fever |
|
Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Supravent... |
ORPHA:99829 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Downturned corners of mouth, Short philtrum, Premature loss of teeth, Loss of facial ... |
ORPHA:3455 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Anemia of inadequate production, Absent thumb, Unilateral radial aplasia,... |
OMIM:614900 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections |
OMIM:193670 |
Developmental And Epileptic Encephalopathy 95 |
|
Joint laxity, Short fourth metatarsal, Multiple joint contractures, Brachydactyly, Low alkaline p... |
OMIM:618143 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Micrognathia, Mandibular apla... |
ORPHA:2556 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Dark yellow urine, Conjugated hyperbilirubinemia, Splenomegaly, Ja... |
ORPHA:30391 |
Amyotrophic Lateral Sclerosis 20 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615426 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro... |
ORPHA:75564 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Elevated circulating alkaline phosphatase concentration, Shortening of all distal phalanges of th... |
OMIM:615716 |
Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Inc... |
OMIM:241200 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Osteopenia, Micrognathia, Deep philtrum, Clinodactyly of the 5th finger, P... |
OMIM:150230 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Polydactyly, Flexion contracture |
ORPHA:17 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Limitation of joint mobility, Bilateral wrist flexion contracture, Fixed elbow flex... |
ORPHA:97297 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Increased circulating ferritin concentration,... |
ORPHA:210136 |
Johanson-Blizzard Syndrome |
|
Joint laxity, Diabetes mellitus, Hypospadias, Elevated circulating aspartate aminotransferase con... |
OMIM:243800 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Pheochromocytoma, Hypercalcemia, Elevated urinary norepinephrine level, Proteinuria |
OMIM:171420 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Tibial bowing, Hypoplasia of first ribs, Broad ribs, Micropenis,... |
OMIM:269150 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Liver abscess, Abnormality of the kidney, Portal hypertension, Hyp... |
ORPHA:480520 |
Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele, Hepatomegaly, Block vertebrae, Renal agenesis, Cardiomegaly, Horseshoe kidney, Pulmo... |
OMIM:306955 |
X Small Rings |
|
Joint laxity, Toe syndactyly, Tapered finger, Fetal pyelectasis, Osteoporosis, 2-3 toe syndactyly... |
ORPHA:96201 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma... |
ORPHA:913 |
Alkaptonuria |
|
Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Nephrolithiasis, Reduc... |
ORPHA:56 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lipodystrophy, Recurrent viral infections, Recurrent bacterial infections, Clinodactyly, Brachyda... |
OMIM:618048 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Prima... |
ORPHA:227990 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:616025 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Pallister-Hall Syndrome |
|
Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Accessory oral frenulum, Cl... |
ORPHA:672 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Inguinal hernia, Large for gestational age, Camp... |
ORPHA:500095 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Conjugated hyper... |
OMIM:617156 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Aut... |
ORPHA:227982 |
Vipoma |
|
Diabetes mellitus, Hypercalcemia, Follicular thyroid carcinoma, Elevated circulating growth hormo... |
ORPHA:97282 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... |
ORPHA:69665 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Rocker bottom foot, Radial club hand, Sepsis, Recurrent bacte... |
OMIM:617053 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Hypocalcemia |
OMIM:192430 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Overweight, Delayed proximal femoral epiphyseal ossification, Bradycardia, Umbilical hernia, Abno... |
ORPHA:226307 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
Monosomy 13Q34 |
|
Hypercalcemia, Postaxial hand polydactyly, Fetal pyelectasis, Postaxial foot polydactyly, Osteoch... |
ORPHA:96168 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Flexion contracture, Sinus bradycardia, Congenital contracture, Arthrogryposis multiplex congenit... |
OMIM:618397 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Hepatitis, Lymphadenopath... |
ORPHA:549 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Severe recurrent varicella, Recurrent oppo... |
ORPHA:276 |
Bare Lymphocyte Syndrome, Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... |
OMIM:209920 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, ... |
ORPHA:567983 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
ORPHA:169079 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Elevated circulating al... |
ORPHA:67 |
Griscelli Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leukopenia, Bone ... |
ORPHA:381 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Abnormal lactate dehydrogenase level, Bone marrow hypocellu... |
ORPHA:98827 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Hip contracture, Bilateral fetal pyelectasis, Patent ductus arterio... |
OMIM:300868 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger |
OMIM:618367 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Tachycardia, Palpitations, Weight loss |
OMIM:188580 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ... |
OMIM:131100 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Chronic noninfect... |
ORPHA:100085 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Reduced bone mineral density, Long fibula, Abnormal metaphysis morphology, Lymphopenia, Anemia |
ORPHA:935 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Submucous cleft hard palate, Cleft palate, Widely spaced teeth, Recurr... |
OMIM:235730 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Sandal gap, Long fingers, Cutaneous syndactyly, Hypocalcemia, Toe clinodactyly, Hyd... |
OMIM:620330 |
Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hyperlipidemia, Abnormal femur morphology, Redu... |
ORPHA:324 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Duplication of thumb phalanx, Short thumb, Anemia, Bone mar... |
OMIM:616435 |
Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
Somatostatinoma |
|
Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality ... |
ORPHA:97283 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1... |
ORPHA:77293 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
Meacham Syndrome |
|
Enlarged kidney, Aplasia of the left hemidiaphragm, Aplasia of the right hemidiaphragm, Horseshoe... |
OMIM:608978 |
Developmental And Epileptic Encephalopathy 80 |
|
Increased urine alpha-ketoglutarate concentration, Tapered finger, Elevated circulating alkaline ... |
OMIM:618580 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Patent ductus arteriosus, Reduce... |
ORPHA:1556 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Leukopenia, Bone marrow hypocellula... |
OMIM:619151 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaco... |
ORPHA:445038 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... |
ORPHA:261537 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Absen... |
OMIM:227645 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections |
OMIM:616873 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Pancytopenia, Renal artery aneurysm, Elevated circulating C-reacti... |
OMIM:615688 |
Cardiac-Urogenital Syndrome |
|
Tachycardia, Congenital diaphragmatic hernia, Enlarged kidney, Patent urachus, Tracheomalacia, Mi... |
OMIM:618280 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Umbilical hernia, Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia |
OMIM:218700 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Hepatomegaly, Failure to thrive, Right ventricula... |
ORPHA:1329 |
Ppoma |
|
Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality of the thyroid glan... |
ORPHA:97278 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Shortening of all distal phalanges of the fingers, Hip dysplasia, Elevated circulating alkaline p... |
ORPHA:247262 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Tricuspid regurgitation, Joint hypermobility, Sinus bradycardia |
OMIM:261990 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypergonadotropic hypogonadism, Hypospadias, Elevated circulating luteinizing hormone level, Abse... |
ORPHA:90796 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections |
OMIM:202700 |
Glucagonoma |
|
Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Acanthocytos... |
ORPHA:97280 |
Immunodeficiency 87 And Autoimmunity |
|
Recurrent viral infections, Sepsis, Cleft palate, Persistent EBV viremia, Severe cytomegalovirus ... |
OMIM:619573 |
Grfoma |
|
Hypercalcemia, Elevated circulating growth hormone concentration, Neoplasm of the thymus, Abnorma... |
ORPHA:97261 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, Thrombocytopeni... |
OMIM:603467 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Finger clinodacty... |
ORPHA:79474 |
Isovaleric Acidemia |
|
Pancytopenia, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
Pheochromocytoma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Pheochromocytoma, Renal artery... |
OMIM:171300 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Fanconi Anemia, Complementation Group D2 |
|
Ectopic kidney, Aplasia of the 1st metacarpal, Reticulocytopenia, Neutropenia, Micropenis, Pelvic... |
OMIM:227646 |
Autoimmune Lymphoproliferative Syndrome |
|
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... |
ORPHA:3261 |
Sotos Syndrome |
|
Ureteral duplication, Flexion contracture, Vesicoureteral reflux, Hypothyroidism, Joint laxity, H... |
ORPHA:821 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent viral infections, Severe varicella zoster infection, ... |
OMIM:606367 |
Hypocomplementemic Urticarial Vasculitis |
|
Arthritis, Meningitis, Recurrent bacterial infections |
ORPHA:36412 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... |
ORPHA:261552 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leukemia, Bone marr... |
ORPHA:3226 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C... |
ORPHA:137675 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Wide anterior fontanel, Elevated circulating alkaline phosphatase concentr... |
OMIM:618548 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Dark urine, Jaundice, Elevated circulating alkaline phosphatase co... |
ORPHA:521219 |
3-Methylglutaconic Aciduria, Type Viii |
|
Failure to thrive, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Bradycardia |
OMIM:617248 |
Idiopathic Bronchiectasis |
|
Recurrent lower respiratory tract infections, Clubbing, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Inguinal hernia, Congenital diaphragmatic hernia, Bradycardia, Pulmonary insufficiency, Joint hyp... |
OMIM:614437 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Ketonuria, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutropenia, Thrombocy... |
OMIM:614520 |
Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, Short thumb, T-cell acute lymphoblastic leukemias, Bone marrow hypocellul... |
OMIM:605724 |
Reynolds Syndrome |
|
Calcinosis, Elevated hepatic transaminase, Splenomegaly, Jaundice, Elevated circulating alkaline ... |
OMIM:613471 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:618116 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Myeloid leukemia |
OMIM:614743 |
Bone Marrow Failure Syndrome 1 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity |
OMIM:614675 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Granuloma... |
ORPHA:562639 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Recurrent upper respiratory tract infections, Persistent EBV viremia, Rec... |
OMIM:616005 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Recurren... |
ORPHA:331206 |
Immunodeficiency 21 |
|
Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Rec... |
OMIM:614172 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Thrombocytopenia, Urethral stenosis,... |
OMIM:305000 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Elevated circulating alkaline phosphatase concentration, Shortening of all distal phalanges of th... |
OMIM:614207 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration |
OMIM:600803 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Lacticaciduria, Tubulointerstitial nephritis, El... |
OMIM:124000 |
Aplastic Anemia |
|
Aplastic anemia, Bone marrow hypocellularity |
OMIM:609135 |
Fanconi Anemia, Complementation Group J |
|
Short thumb, Bone marrow hypocellularity |
OMIM:609054 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... |
OMIM:233710 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... |
OMIM:233690 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Bowing of the legs, Precocious puberty, Osteoporosis, Osteolysis, Renovascular hypert... |
ORPHA:97685 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... |
OMIM:306400 |
Postinfectious Vasculitis |
|
Persistent human papillomavirus infection, Severe varicella zoster infection, Invasive fungal inf... |
ORPHA:48435 |
Omenn Syndrome |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections |
OMIM:603554 |
Complement Component 5 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... |
OMIM:619767 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia |
ORPHA:88 |
Immunodeficiency 47 |
|
Recurrent bacterial infections, Joint hypermobility, Recurrent infections |
OMIM:300972 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:619693 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Recurrent bacterial infections |
OMIM:615895 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:613987 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Urinary incontinence, Sinus bradycardia |
OMIM:619482 |
Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections |
OMIM:607676 |
Leukemia, Chronic Myeloid |
|
Reduced leukocyte alkaline phosphatase, Ph-positive acute lymphoblastic leukemia, Chronic myeloge... |
OMIM:608232 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Multicystic kidney dysplasia, Missing ri... |
ORPHA:2308 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Bone marrow hypocellularity |
OMIM:615190 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Intermittent jaundice, Elevated gamma-glutamyltransferase ... |
ORPHA:100086 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity |
OMIM:616553 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Pancytopenia, Bone marrow hypocellularity |
OMIM:613988 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Absent thumb, Absent radius, Renal hypoplasia, Bone marrow hypocellula... |
OMIM:614083 |
Sickle Cell Disease |
|
Recurrent bacterial infections |
OMIM:603903 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |