| Mounier-Kühn Syndrome |
|
Pneumonia, Recurrent bronchopulmonary infections, Tracheal stenosis, Bronchitis, Tracheobronchmeg... |
ORPHA:3347 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Congenital Respiratory-Biliary Fistula |
|
Tracheal stenosis |
ORPHA:2040 |
| Buschke-Ollendorff Syndrome |
|
Flexion contracture, Joint stiffness, Osteopoikilosis |
OMIM:166700 |
| Regional Odontodysplasia |
|
Enamel hypoplasia, Abnormal dental enamel morphology, Carious teeth, Pulp calcification, Hypoplas... |
ORPHA:83450 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Tracheal atresia |
OMIM:601612 |
| Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition, Cortical sclerosis |
OMIM:125440 |
| Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Tracheal atresia |
ORPHA:3346 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Dentinogenesis Imperfecta |
|
Joint hypermobility, Finger joint hypermobility, Generalized hypoplasia of dental enamel, Abnorma... |
ORPHA:49042 |
| Amelogenesis Imperfecta |
|
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... |
ORPHA:88661 |
| Dentin Dysplasia, Type I |
|
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... |
OMIM:125400 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Trichodentoosseous Syndrome |
|
Microdontia, Widely spaced teeth, Taurodontia, Increased bone mineral density |
OMIM:190320 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, Toe clinodactyly,... |
ORPHA:166277 |
| Tracheobronchopathia Osteochondroplastica |
|
Abnormal sputum, Tracheal calcification, Bronchitis, Pneumonia, Atelectasis, Abnormal tracheobron... |
ORPHA:3348 |
| Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
| Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
| Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density |
OMIM:259660 |
| Dentin Dysplasia |
|
Abnormal dental enamel morphology, Abnormality of dental morphology, Increased bone mineral density |
ORPHA:1653 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Osteoporosis, Delayed eruption of teeth, Short philtrum, Cone-shaped epiphysis, Dentinogenesis im... |
ORPHA:71267 |
| Osteogenesis Imperfecta, Type V |
|
Joint hypermobility, Recurrent fractures, Abnormality of the dentition, Anterior radial head disl... |
OMIM:610967 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
| Odontochondrodysplasia 1 |
|
Joint hypermobility, Nephronophthisis, Short phalanx of finger, Flared iliac wing, Flat acetabula... |
OMIM:184260 |
| Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Death in infancy, Bronchiectasis, Diverticulosis of trachea |
OMIM:275300 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Genu valgum, Carious teeth, Abnormal renal tubule morphology, Abnormality of dental morphology, A... |
ORPHA:2785 |
| Pycnodysostosis |
|
Osteolytic defects of the distal phalanges of the hand, Delayed eruption of primary teeth, Cariou... |
OMIM:265800 |
| Otodental Dysplasia |
|
Long philtrum, Pulp calcification, Ankylosis, Taurodontia, Hypodontia |
OMIM:166750 |
| Craniodiaphyseal Dysplasia |
|
Cranial hyperostosis, Facial hyperostosis, Diaphyseal sclerosis |
OMIM:218300 |
| Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
| Anonychia-Microcephaly Syndrome |
|
Carious teeth, Clinodactyly of the 5th finger, Abnormality of the dentition |
ORPHA:1094 |
| Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology |
ORPHA:3416 |
| Distal Osteosclerosis |
|
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis |
OMIM:126250 |
| Jung Syndrome |
|
Tracheal stenosis, Depressed nasal bridge, Recurrent respiratory infections, Wide nasal bridge |
ORPHA:2321 |
| Intermediate Osteopetrosis |
|
Cortical sclerosis, Erlenmeyer flask deformity of the femurs, Abnormality of dental morphology, R... |
ORPHA:210110 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification |
OMIM:125420 |
| Taurodontism, Microdontia, And Dens Invaginatus |
|
Microdontia, Dens in dente, Pulp calcification, Taurodontia |
OMIM:313490 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Square pelvis bone, Joint hyperflexibility, Bowing of the long bones, ... |
ORPHA:166272 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Bowing of the legs, Vertebral hy... |
ORPHA:89936 |
| Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Limited elbow extension, Carious teeth, Hyperostosis, Clinodactyly of the 3rd toe, Epiphyseal str... |
OMIM:604922 |
| Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
| Cranioectodermal Dysplasia |
|
Osteoporosis, Abnormal dental enamel morphology, Craniosynostosis, Taurodontia, Finger syndactyly... |
ORPHA:1515 |
| Osteogenesis Imperfecta, Type Ix |
|
Decreased calvarial ossification, Recurrent fractures, Multiple prenatal fractures, Bowing of lim... |
OMIM:259440 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Tracheal stenosis, Tracheoesophageal fistula, Laryngomalacia |
ORPHA:93941 |
| Otodental Syndrome |
|
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... |
ORPHA:2791 |
| Ovarian Dysgenesis 2 |
|
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... |
OMIM:300510 |
| Oligodontia |
|
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... |
ORPHA:99798 |
| Amelogenesis Imperfecta, Type Ia |
|
Amelogenesis imperfecta, Generalized microdontia, Taurodontia |
OMIM:104530 |
| Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Taurodontia, Finger clinodactyly, Periapical tooth abscess, Agenesis of incis... |
ORPHA:3352 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones |
ORPHA:53697 |
| Tooth Agenesis, Selective, 7 |
|
Agenesis of permanent teeth, Taurodontia |
OMIM:616724 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density |
OMIM:166740 |
| Ackerman Syndrome |
|
Broad philtrum, Taurodontia |
OMIM:200970 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density |
OMIM:241520 |
| Flynn-Aird Syndrome |
|
Osteoporosis, Carious teeth, Increased bone density with cystic changes, Increased bone mineral d... |
OMIM:136300 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615271 |
| Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
|
Oligodontia, Taurodontia |
OMIM:272980 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of tibia morphology, Craniofacial hyperostosis, Bowing of the long bones, Abnormal co... |
ORPHA:1802 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Mandibular prognathia, Torus palatinus, Generalized osteosclerosis, Ab... |
ORPHA:2790 |
| Albers-Schönberg Osteopetrosis |
|
Genu valgum, Carious teeth, Osteomyelitis, Abnormality of epiphysis morphology, Recurrent fractur... |
ORPHA:53 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Hypoplasia of penis, Tracheal stenosis |
OMIM:601427 |
| Pyle Disease |
|
Delayed eruption of teeth, Carious teeth, Genu valgum, Limited elbow extension, Mandibular progna... |
OMIM:265900 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Craniosynostosis, Femur fracture, Osteopetrosis, Increased bone mineral density, P... |
OMIM:259700 |
| Amelogenesis Imperfecta, Type Ij |
|
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth |
OMIM:617297 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Periodontitis, Moder... |
OMIM:619269 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Hip dysplasia, Carious teeth, Metaphyseal chondrodysplasia, Abnormality of epiphysis morphology, ... |
ORPHA:2501 |
| 48,Xxyy Syndrome |
|
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Hip dyspl... |
ORPHA:10 |
| Keutel Syndrome |
|
Underdeveloped nasal alae, Recurrent sinusitis, Tracheal atresia, Pulmonary artery stenosis, Calc... |
ORPHA:85202 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip dysplasia, Delayed eruption of teeth, Abnormality of epiphysis morphology, Hip osteoarthritis... |
ORPHA:63442 |
| Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency |
OMIM:608996 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Decreased calvarial ossification, Recurrent fractures, Severe generalized os... |
OMIM:259420 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Genu valgum, Carious teeth, Chronic rhinitis due to narrow nasal airway, Extramedullary hematopoi... |
OMIM:259710 |
| Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Enamel hypoplasia, Osteopenia, Down-sloping shoulders, Recurrent fractures |
ORPHA:91133 |
| Hall-Riggs Mental Retardation Syndrome |
|
Enamel hypoplasia, Osteoporosis, Thick lower lip vermilion, Hypoplasia of the primary teeth, Meta... |
OMIM:234250 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones |
OMIM:607634 |
| Pendred Syndrome |
|
Nephropathy, Tracheal stenosis |
ORPHA:705 |
| Sclerosteosis |
|
2-3 finger syndactyly, Finger syndactyly, Craniofacial hyperostosis, Abnormal cortical bone morph... |
ORPHA:3152 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:125490 |
| Trichodental Dysplasia |
|
Conical tooth, Odontodysplasia, Hypodontia |
OMIM:601453 |
| Ovarian Dysgenesis 7 |
|
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:618117 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Frontal open bite, Short phalanx of finger, Joint laxity, Recurrent mandibular subluxations, Ging... |
OMIM:225410 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Enamel hypoplasia, Carious teeth, Increased connective tissue, Scarring alopecia of scalp, Puncta... |
OMIM:226670 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615269 |
| Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia, Joint stiffness |
ORPHA:2871 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Cryptorchidism |
OMIM:274205 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Broad jaw, Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Stillbirth, Upper limb phocomelia, Polydactyly, Atypical scarring of skin, Syndactyly, Small for ... |
ORPHA:294975 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... |
OMIM:617565 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 18 |
|
Cataract |
OMIM:610019 |
| Autosomal Recessive Primary Microcephaly |
|
Thin upper lip vermilion, Vesicoureteral reflux, Unilateral renal agenesis, Abnormal cortical bon... |
ORPHA:2512 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
| Osteogenesis Imperfecta, Type Xi |
|
Protrusio acetabuli, Joint laxity, Abnormality of the dentition, Coxa vara, Increased susceptibil... |
OMIM:610968 |
| Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Short metacarpal, B... |
OMIM:612463 |
| Lichtenstein Syndrome |
|
Enamel hypoplasia, Osteoporosis, Carious teeth, Downturned corners of mouth, Neutropenia, Increas... |
OMIM:246550 |
| Junctional Epidermolysis Bullosa Inversa |
|
Enamel hypoplasia, Gastrointestinal inflammation, Carious teeth, Atrophic scars, Oral mucosal bli... |
ORPHA:79405 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Enamel hypoplasia, Hip dysplasia, Inflammation of the large intestine, Hyperechogenic kidneys, Pr... |
OMIM:614576 |
| Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
|
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Complete duplication of ... |
OMIM:129540 |
| Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia |
OMIM:301200 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
| Spastic Paraparesis And Deafness |
|
Cataract, Hypogonadism |
OMIM:312910 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Carious teeth, Horseshoe kidney, Overlapping toe, Camptodactyly, Patent ductus arteriosus, Smooth... |
ORPHA:363444 |
| Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the fifth metatarsal bone, Chondritis, Abnormality of the fourth metatarsal bone, ... |
ORPHA:564003 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615270 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Chops Syndrome |
|
Horseshoe kidney, Short nose, Laryngomalacia, Vesicoureteral reflux, Aspiration pneumonia, Trache... |
OMIM:616368 |
| Hurler-Scheie Syndrome |
|
Tracheal stenosis, Recurrent respiratory infections, Depressed nasal bridge |
OMIM:607015 |
| Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ... |
OMIM:166220 |
| Osteogenesis Imperfecta, Type X |
|
Genu valgum, Joint laxity, Generalized joint laxity, Bowing of the long bones, Osteopenia, Inguin... |
OMIM:613848 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Torus palat... |
OMIM:144750 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Neutropenia,... |
ORPHA:1830 |
| 48,Xxxy Syndrome |
|
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Radioulna... |
ORPHA:96263 |
| Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... |
OMIM:612310 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Short proximal phalanx of thumb, Short middle phalanx of finger, Short proxima... |
OMIM:251190 |
| Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... |
OMIM:612964 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Genu valgum, Abnormality of dental morphology, Hypodontia, Alveolar pr... |
ORPHA:2972 |
| 48,Xyyy Syndrome |
|
Enamel hypoplasia, Long philtrum, Dislocated radial head, Abnormal renal morphology, Radioulnar s... |
ORPHA:99329 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Enamel hypoplasia, Pulp calcification, Taurodontia, Subperiosteal bone formation, Hyperostosis, N... |
OMIM:211900 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Atrophic scars, Scarring alopecia of scalp, Oral mucosal blisters, Anemia |
ORPHA:79402 |
| Otopalatodigital Syndrome Type 1 |
|
Short hallux, Oligodontia, Abnormality of the tarsal bones, Synostosis of carpal bones, Hypoplast... |
ORPHA:90650 |
| Momo Syndrome |
|
Long philtrum, Delayed eruption of teeth, Abnormal bone ossification, Taurodontia, Thick lower li... |
ORPHA:2563 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture, Cutaneous finger syn... |
OMIM:203550 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Infertility, Cataract |
OMIM:300719 |
| Melorheostosis |
|
Ectopic ossification in muscle tissue, Increased bone mineral density, Hyperostosis, Joint stiffn... |
ORPHA:2485 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Enamel hypoplasia, Carious teeth |
OMIM:614564 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping fingers, Preaxial polydactyly, Patent ductus arteriosus, Postaxial polydactyly, Unila... |
OMIM:618142 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Delayed eruption of teeth, Dislocated radial head, Epiphyseal stippling, Short metatarsal, Short ... |
OMIM:101800 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Larsen-Like Syndrome, Lethal Type |
|
Abnormal cartilage matrix, Tracheomalacia, Laryngomalacia, Neonatal death, Pulmonary hypoplasia |
OMIM:245650 |
| Cole-Carpenter Syndrome 2 |
|
Lambdoidal craniosynostosis, Microretrognathia, Dentinogenesis imperfecta, Narrow iliac wing, Cor... |
OMIM:616294 |
| Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Genu valgum, Oligodontia, Metaphyseal irregularity, Narrow iliac wing, Joint contracture of the 5... |
OMIM:601668 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enamel hypoplasia, Delayed eruption of teeth, Bulging epiphyses, Subperiosteal bone resorption, D... |
OMIM:264700 |
| Chondrodysplasia, Blomstrand Type |
|
Squared iliac bones, Advanced tarsal ossification, Stillbirth, Generalized osteosclerosis, Flared... |
OMIM:215045 |
| Aniridia 3 |
|
Cataract |
OMIM:617142 |
| Cerebellofaciodental Syndrome |
|
Taurodontia, Macrodontia of permanent maxillary central incisor, Slender long bone, Dental malocc... |
OMIM:616202 |
| Hypophosphatemic Rickets |
|
Hyperostosis, Hypercalciuria, Joint stiffness, Renal insufficiency, Renal phosphate wasting, Hypo... |
ORPHA:437 |
| Isolated Osteopoikilosis |
|
Generalized osteosclerosis |
ORPHA:166119 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Carious teeth, Oral mucosal blisters |
ORPHA:79406 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar |
OMIM:114700 |
| Fraser Syndrome 3 |
|
Tracheal atresia, Wide nose, Abnormal lung lobation |
OMIM:617667 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Enamel hypoplasia, Delayed eruption of teeth, Carious teeth, Bulging epiphyses, Delayed epiphysea... |
OMIM:277440 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Fractures of ... |
OMIM:166600 |
| Emanuel Syndrome |
|
Long philtrum, Delayed eruption of teeth, Tooth malposition, Congenital hip dislocation, Dental c... |
ORPHA:96170 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Skin rash, Carious teeth, Allergic rhinitis, Hepatomegaly, Splenomegaly, Anemia, Anemia of inadeq... |
OMIM:612714 |
| Epidermolysis Bullosa, Junctional, Herlitz Type |
|
Enamel hypoplasia, Atrophic scars, Carious teeth, Failure to thrive |
OMIM:226700 |
| Ring Chromosome Y Syndrome |
|
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... |
ORPHA:261529 |
| Brittle Cornea Syndrome 1 |
|
Dentinogenesis imperfecta, Joint laxity, Congenital hip dislocation, Atypical scarring of skin |
OMIM:229200 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:614832 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis |
OMIM:166260 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Majeed Syndrome |
|
Metaphyseal irregularity, Weight loss, Increased bone mineral density, Increased susceptibility t... |
ORPHA:77297 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
| Osteogenesis Imperfecta, Type I |
|
Joint hypermobility, Recurrent fractures, Increased susceptibility to fractures, Dentinogenesis i... |
OMIM:166200 |
| Geleophysic Dysplasia 3 |
|
Bulbous nose, Subglottic stenosis, Pneumonia, Wide nasal bridge, Tracheal stenosis, Anteverted na... |
OMIM:617809 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Amelogenesis imperfecta, Carious teeth, Genu valgum, Microretrognathia, Pierre-Robin sequence, To... |
OMIM:618363 |
| Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephroti... |
OMIM:618349 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Craniosynostosis, Abnormal dental enamel morphology, Enlarged kidney, ... |
ORPHA:251004 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Joint hypermobility, Skin rash, Craniosynostosis, Eczematoid dermatitis, Recurrent fractures, Per... |
OMIM:147060 |
| Laryngomalacia |
|
Abnormal trachea morphology, Laryngomalacia |
OMIM:150280 |
| 49,Xxxxy Syndrome |
|
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Radioulna... |
ORPHA:96264 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Smith-Magenis Syndrome |
|
Delayed eruption of primary teeth, Short philtrum, Hand polydactyly, Toe syndactyly, Open mouth, ... |
ORPHA:819 |
| Nager Syndrome |
|
Triphalangeal thumb, Hypoplasia of the radius, Abnormal palate morphology, Unilateral renal agene... |
ORPHA:245 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormality of the larynx, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the lungs, Trachea... |
ORPHA:3301 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth |
OMIM:615887 |
| Lethal Recessive Chondrodysplasia |
|
Macroglossia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long b... |
ORPHA:1423 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Cryptorchidism, Hypoplasia of the uterus, Primary amenorrhea, Decreased circulating gonadotropin ... |
OMIM:614841 |
| Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy |
|
Hip dysplasia, Long philtrum, Thin vermilion border, Bifid distal phalanx of toe, Limited elbow e... |
OMIM:618419 |
| Camurati-Engelmann Disease |
|
Slender build, Genu valgum, Carious teeth, Mandibular prognathia, Cortical thickening of long bon... |
OMIM:131300 |
| Dens In Dente And Palatal Invaginations |
|
Dens in dente, Abnormality of the dentition |
OMIM:125300 |
| Dens Evaginatus |
|
Talon cusp, Abnormality of the dentition |
OMIM:125280 |
| Braddock Syndrome |
|
Preaxial hand polydactyly, Micrognathia, Unilateral renal agenesis, Failure to thrive |
ORPHA:52047 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Craniofacial hyperostosis, Recurren... |
ORPHA:1782 |
| Buschke-Ollendorff Syndrome |
|
Craniosynostosis, Abnormality of epiphysis morphology, Atypical scarring of skin, Flexion contrac... |
ORPHA:1306 |
| 46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Exaggerated rugosity of the ... |
OMIM:612965 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Osteolysis, Narrow palate, Gingival... |
ORPHA:3019 |
| Fryns Macrocephaly |
|
Short philtrum, Everted lower lip vermilion, Wide mouth, Macrodontia of permanent maxillary centr... |
OMIM:600302 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Craniofacial hyperostosis, Mandibular prognathia, Craniofacial osteosclerosis... |
OMIM:122860 |
| Ck Syndrome |
|
Slender build, Joint hypermobility, Dental crowding, Abnormal cortical bone morphology, Abnormal ... |
OMIM:300831 |
| Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus |
|
Enamel hypoplasia, Alaninuria |
OMIM:202900 |
| Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2204 |
| Osteogenesis Imperfecta, Type Xii |
|
Osteoporosis, Delayed eruption of teeth, Narrow mouth, Generalized osteoporosis, High palate, Mic... |
OMIM:613849 |
| Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth |
ORPHA:2222 |
| Vacterl/Vater Association |
|
Laryngomalacia, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the lungs, Congenital diaphra... |
ORPHA:887 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... |
ORPHA:168563 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:617690 |
| Hypomandibular Faciocranial Dysostosis |
|
Short nose, Laryngeal hypoplasia, Death in infancy, Abnormal tracheobronchial morphology, Trachea... |
ORPHA:1790 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Craniosynostosis, Cleft palate |
OMIM:600252 |
| Shaheen Syndrome |
|
Enamel hypoplasia, Carious teeth |
OMIM:615328 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia, Congenital hip dislocation, Omphalocele, Increased body ... |
OMIM:614450 |
| Takenouchi-Kosaki Syndrome |
|
Long philtrum, Short philtrum, Downturned corners of mouth, Overlapping toe, Camptodactyly, Paten... |
OMIM:616737 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Enamel hypoplasia, Carious teeth, Thick vermilion border, Hepatitis |
ORPHA:363523 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Talipes equinovarus, Short philtrum, Joint hypermobility, Drooling, 2-3 toe syndactyly, Unilatera... |
ORPHA:3306 |
| Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:603641 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
| Familial Expansile Osteolysis |
|
Osteolysis, Hydroxyprolinuria, Bowing of the long bones, Fragile teeth, Pathologic fracture, Thin... |
OMIM:174810 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Downturned corners of mouth, Abnormality of epiphysis morphology, Neutropenia,... |
ORPHA:2643 |
| Granulomatosis With Polyangiitis |
|
Pleuritis, Subglottic stenosis, Elevated bronchoalveolar lavage fluid neutrophil proportion, Diff... |
OMIM:608710 |
| Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Short nose, Laryngeal hypoplasia, Abnormality of the larynx, Tracheomalacia, Tracheal stenosis, H... |
OMIM:217980 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Ectopic kidney, Cleft upper lip, Cleft palate, Renal agenesis, Microgn... |
OMIM:601076 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... |
OMIM:614837 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Thin upper lip vermilion, Syndactyly, Cardiomegaly |
OMIM:613576 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
| Osteogenesis Imperfecta, Type Xiii |
|
Osteoporosis, Long philtrum, Thin vermilion border, Dislocated radial head, Joint hypermobility, ... |
OMIM:614856 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Osteoporosis, Amelogenesis imperfecta, Joint laxity, Thrombocytopenia, Metaphyseal dysplasia, Hep... |
OMIM:614727 |
| Xfe Progeroid Syndrome |
|
Enamel hypoplasia, Absence of subcutaneous fat, Cachexia, Renal insufficiency, Proteinuria |
OMIM:610965 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Short distal phalanx of finger, Unilateral renal agenesis, Cleft palate |
OMIM:601355 |
| Momo Syndrome |
|
Long philtrum, Delayed eruption of teeth, Taurodontia, Short sternum, Smooth philtrum, Large hand... |
OMIM:157980 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| Hypogonadism-Cataract Syndrome |
|
Infertility, Male hypogonadism, Hypogonadism, Cataract, Elevated circulating follicle stimulating... |
OMIM:240950 |
| Laron Syndrome |
|
Delayed eruption of teeth, Tooth agenesis, Truncal obesity, Short toe, Microdontia, Micrognathia,... |
ORPHA:633 |
| Aredyld Syndrome |
|
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Mandibular prognathia... |
ORPHA:1133 |
| Dysostosis, Stanescu Type |
|
Macroglossia, Carious teeth, Abnormal dental enamel morphology, Massively thickened long bone cor... |
ORPHA:1798 |
| 17Q11.2 Microduplication Syndrome |
|
Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology, Malar flattening |
ORPHA:139474 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Shagreen patch, Hypodontia, Hypoplasia of penis, Hypospadias, Nephroli... |
ORPHA:1816 |
| Dysosteosclerosis |
|
Oligodontia, Natal tooth, Increased susceptibility to fractures, High palate, Micrognathia, Scler... |
OMIM:224300 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Camptodactyly of finger, Midshaft hypospadias, Abnormality of the phil... |
ORPHA:2863 |
| Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Enamel hypoplasia, Mandibular prognathia, Sandal gap, High palate, Brachydactyly, Malar flattening |
OMIM:600991 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Skin rash, Glossitis, Megaloblastic anemia, Unilateral renal agenesis, Neutropenia, Stomatitis, M... |
ORPHA:79284 |
| Mulibrey Nanism |
|
Enamel hypoplasia, Dental crowding, Hypoplastic frontal sinuses, Hypodontia, Hepatomegaly, Microg... |
OMIM:253250 |
| 46,Xy Sex Reversal 7 |
|
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... |
OMIM:233420 |
| Branchioskeletogenital Syndrome |
|
Thin vermilion border, Carious teeth, Craniosynostosis, Downturned corners of mouth, Upper limb p... |
ORPHA:1299 |
| Growth Hormone Insensitivity Syndrome |
|
Delayed eruption of teeth, Abnormality of the mouth, Everted lower lip vermilion, Truncal obesity... |
ORPHA:181393 |
| Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis |
|
Abnormal tracheobronchial morphology, Microphallus, Micropenis |
OMIM:218450 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Renal phosphate wasting, Craniosynostosis, Abnormality of renal excret... |
ORPHA:289176 |
| Pseudohypoparathyroidism Type 1B |
|
Enamel hypoplasia, Delayed eruption of teeth, Cortical subperiosteal resorption of humeral metaph... |
ORPHA:94089 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enamel hypoplasia, Delayed eruption of teeth, Subperiosteal bone resorption, Rickets, Generalized... |
ORPHA:289157 |
| Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Low urinary cyclic ... |
OMIM:612462 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... |
OMIM:204700 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Tooth malposition, Craniofacial hyperostosis, Joint hyperflexibility, ... |
ORPHA:2484 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Enamel hypoplasia, Oligodontia, Short metatarsal, Short phalanx of finger, Joint laxity, Clinodac... |
OMIM:170390 |
| Williams-Beuren Region Duplication Syndrome |
|
Short philtrum, Diastema, Patent ductus arteriosus, Chronic otitis media, Unilateral renal agenes... |
OMIM:609757 |
| Dental Ankylosis |
|
Clinodactyly of the 5th finger, Mandibular prognathia, Abnormal dental enamel morphology, Tooth a... |
ORPHA:1077 |
| Amelogenesis Imperfecta, Type Ih |
|
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... |
OMIM:616221 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Enamel hypoplasia, Hypodontia |
OMIM:616029 |
| Pseudohypoparathyroidism, Type Ia |
|
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Short finger, Short... |
OMIM:103580 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Aniridia, Cryptorchidism, Abnormality of the uterus, Abnormal vagina morphology, Gonadoblastoma, ... |
OMIM:194072 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Everted lower... |
ORPHA:2025 |
| Fibromatosis, Gingival, With Distinctive Facies |
|
Gingival fibromatosis, Everted lower lip vermilion, Thick vermilion border, Persistence of primar... |
OMIM:228560 |
| Osteogenesis Imperfecta |
|
Joint hypermobility, Carious teeth, Abnormal dental enamel morphology, Abnormality of long bone m... |
ORPHA:666 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Agenesis of permanent teeth, Abnormality of dental morphology, Everted... |
ORPHA:2228 |
| Oligomeganephronia |
|
Decreased numbers of nephrons, Proteinuria, Branchial cyst, Unilateral renal agenesis, Abnormalit... |
ORPHA:2260 |
| Diastrophic Dwarfism |
|
Hip dysplasia, Camptodactyly of finger, Abnormality of epiphysis morphology, Joint hyperflexibili... |
ORPHA:628 |
| Axial Osteomalacia |
|
Osteomalacia, Increased bone mineral density |
OMIM:109130 |
| Frank-Ter Haar Syndrome |
|
Delayed eruption of teeth, Short philtrum, Osteolysis, Camptodactyly of finger, Acne, Mandibular ... |
ORPHA:137834 |
| Catifa Syndrome |
|
Long philtrum, Delayed eruption of teeth, Tooth malposition, Camptodactyly, Inguinal hernia, Incr... |
OMIM:618761 |
| Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth |
ORPHA:2026 |
| Eiken Syndrome |
|
Oligodontia, Pseudoepiphyses, Flat acetabular roof, Delayed tarsal ossification, Long thumb, Dela... |
OMIM:600002 |
| Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Proteinuria, Persistence of primary teeth, Glomerulopathy, Anemia, Renal insufficiency... |
ORPHA:375 |
| Spastic Paraparesis-Deafness Syndrome |
|
Cataract, Hypogonadism |
ORPHA:2815 |
| Paget Disease Of Bone 3 |
|
Osteolysis, Fractures of the long bones, Patchy osteosclerosis |
OMIM:167250 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Carious teeth, Radioulnar synostosis, Abnormal palate morphology, Abnormality of the dentition, M... |
ORPHA:3270 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Obtuse angle of mandible, Abnormal diaphysis morpholo... |
ORPHA:85184 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Azoospermia, Hyp... |
OMIM:612885 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Hypergonadotropic hypogonadism, Streak ovary |
OMIM:241090 |
| Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Micropenis |
OMIM:610156 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Dislocated radial head, Camptodactyly of finger, Cigarette-paper scars... |
OMIM:612350 |
| Galactosemia Iv |
|
Prolonged neonatal jaundice, Cataract |
OMIM:618881 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Abnormal femoral neck/head morphology, Long philtrum, Abnormal bone ossification, Hemiatrophy of ... |
ORPHA:163649 |
| Bone Marrow Failure Syndrome 3 |
|
Enamel hypoplasia, Amelogenesis imperfecta, Joint hypermobility, Congenital hip dislocation, Hypo... |
OMIM:617052 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Tooth malposition, Renal hypoplasia, Lymphopenia, Unilateral renal agenesis, Limb undergrowth, Tr... |
OMIM:616541 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Arthrogryposis multiplex congenita, Natal tooth, Abnormality of the mandible, Cleft palate |
OMIM:217150 |
| Gorham-Stout Disease |
|
Mandibular pain, Osteolysis, Abnormality of finger, Abnormal bone ossification, Patchy reduction ... |
ORPHA:73 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization |
OMIM:613211 |
| Weismann-Netter Syndrome |
|
Squared iliac bones, Delayed eruption of permanent teeth, Fibular bowing, Calvarial hyperostosis,... |
OMIM:112350 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract, Premature ovarian insufficiency |
ORPHA:2278 |
| Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
| Hypophosphatasia, Childhood |
|
Carious teeth, Craniosynostosis, Elevated urine pyrophosphate, Premature loss of primary teeth, P... |
OMIM:241510 |
| Oculodentodigital Dysplasia |
|
Enamel hypoplasia, 3-4 toe syndactyly, Carious teeth, 4-5 finger syndactyly, Neurogenic bladder, ... |
OMIM:164200 |
| Osteoglosphonic Dysplasia |
|
Craniosynostosis, Abnormal bone ossification, Rhizomelia, Failure to thrive in infancy, Tooth age... |
ORPHA:2645 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bilateral renal agenesis, Patent ductus arteriosus, Unilateral renal agenesis, Vertebral fusion, ... |
OMIM:618845 |
| Diastrophic Dysplasia |
|
Costal cartilage calcification, Laryngotracheal stenosis, Hip contracture |
OMIM:222600 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Joint hypermobility, Carious teeth, Craniosynostosis, Phalangeal dislocation, Slender long bones ... |
ORPHA:536467 |
| Hypophosphatasia, Adult |
|
Carious teeth, Chondrocalcinosis, Rickets, Premature loss of permanent teeth, Recurrent fractures... |
OMIM:146300 |
| Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia, Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:613382 |
| Eec Syndrome |
|
Carious teeth, Abnormal dental enamel morphology, Split hand, Oral cleft, Xerostomia, Vesicourete... |
ORPHA:1896 |
| Raine Syndrome |
|
Enamel hypoplasia, Arthrogryposis multiplex congenita, Narrow mouth, Hydroureter, Mandibular prog... |
OMIM:259775 |
| Diethylstilbestrol Syndrome |
|
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... |
ORPHA:1916 |
| Oculodentodigital Dysplasia |
|
Neurogenic bladder, Carious teeth, Abnormal dental enamel morphology, Mandibular prognathia, Hype... |
ORPHA:2710 |
| Nance-Horan Syndrome |
|
Mulberry molar, Short phalanx of finger, Diastema, Screwdriver-shaped incisors, Supernumerary max... |
OMIM:302350 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Carious teeth, Thyroiditis, Increased susceptibility to fractures, Anemia, Gingivitis, Osteoporos... |
ORPHA:79259 |
| Epidermolysis Bullosa, Junctional, Non-Herlitz Type |
|
Camptodactyly of finger, Carious teeth, Oral mucosal blisters, Hypodontia |
OMIM:226650 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Craniosynostosis, Micrognathia, Unilateral renal agenesis, Downturned corners of mouth |
ORPHA:1064 |
| Localized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Abnormality of dental color, Dental enamel pits, Mitten deformity, Atypical sc... |
ORPHA:251393 |
| Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614129 |
| Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
| Pycnodysostosis |
|
Delayed eruption of teeth, Short toe, Osteolysis, Narrow palate, Abnormality of dental morphology... |
ORPHA:763 |
| Amelogenesis Imperfecta, Type If |
|
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color |
OMIM:616270 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Tracheal calcification, Hydronephrosis, Tracheal stenosis |
OMIM:302960 |
| Otopalatodigital Syndrome Type 2 |
|
Oligodontia, Tarsal synostosis, Narrow mouth, Flared iliac wing, Hypoplastic frontal sinuses, Omp... |
ORPHA:90652 |
| Clark-Baraitser syndrome |
|
Genu valgum, Joint laxity, Short palm, Maxillary lateral incisor microdontia, Exaggerated median ... |
OMIM:300602 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Cataract, Abnormality of the ovary, Decreased testicular size |
ORPHA:1875 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Large iliac wing, Osteopetrosis, High iliac wing, Increased bone miner... |
ORPHA:2780 |
| Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
| Oculocerebrodental Syndrome |
|
Enamel hypoplasia, Oligodontia, Abnormality of the dentition, Metaphyseal dysplasia, Clinodactyly... |
ORPHA:557003 |
| Xanthoma Disseminatum |
|
Abnormality of the larynx, Abnormality of the pharynx, Abnormal bronchus morphology |
ORPHA:158003 |
| 7Q11.23 Microduplication Syndrome |
|
Joint hypermobility, Thin vermilion border, Craniosynostosis, Patent ductus arteriosus, Congenita... |
ORPHA:96121 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Enamel hypoplasia, Postaxial hand polydactyly, Tarsal synostosis, Toe syndactyly, Broad toe, Shor... |
OMIM:263540 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Tracheal stenosis, Laryngeal stenosis, Abnormal bronchus morphology |
ORPHA:93352 |
| Acrofacial Dysostosis 1, Nager Type |
|
Patent ductus arteriosus, Absent radius, Triphalangeal thumb, Micrognathia, Hallux valgus, Limite... |
OMIM:154400 |
| Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Clinodactyly of the 3rd finger, Chronic oral candidiasis, Clinodactyly of the 4th finger, Decreas... |
ORPHA:221139 |
| Seckel Syndrome 1 |
|
Enamel hypoplasia, Dislocated radial head, Cone-shaped epiphyses of the phalanges of the hand, De... |
OMIM:210600 |
| Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia, Joint stiffness |
OMIM:261560 |
| 12Q14 Microdeletion Syndrome |
|
Thin vermilion border, Horseshoe kidney, Downturned corners of mouth, Renal hypoplasia, Hypodonti... |
ORPHA:94063 |
| Cleft Lip/Palate |
|
Abnormal number of permanent teeth, Agenesis of lateral incisor, Recurrent otitis media, Oral cle... |
ORPHA:199306 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Open bite, Carious teeth, Abnormal dental enamel morphology, Narrow palate, Hematuria, Open mouth... |
ORPHA:534 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Abnormal dental enamel morphology, Supernumerary tooth |
ORPHA:3196 |
| Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta |
|
Amelogenesis imperfecta, Delayed eruption of teeth, Hypodontia |
OMIM:615905 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Enamel hypoplasia, Short distal phalanx of finger, Ulnar bowing, Narrow pelvis bone, Limited elbo... |
OMIM:210720 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis, Cleft upper lip, Cleft palate |
OMIM:244200 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Tracheal calcification, Short nose, Laryngeal calcification, Tracheal stenosis, Pulmonary artery ... |
ORPHA:79345 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Underdeveloped nasal alae, Wide nasal bridge, Laryngomalacia, Tracheal stenosis, Recurrent respir... |
ORPHA:2637 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Genu valgum, Carious teeth, Hypoplasia of teeth, Hyperphosphaturia, Hypophosphatemic rickets, Gen... |
OMIM:613312 |
| Caffey Disease |
|
Cortical irregularity, Calvarial hyperostosis, Periosteal thickening of long tubular bones |
OMIM:114000 |
| Cleidocranial Dysplasia |
|
Enamel hypoplasia, Narrow palate, Hypoplastic frontal sinuses, Increased bone mineral density, In... |
OMIM:119600 |
| Sjogren-Larsson Syndrome |
|
Enamel hypoplasia |
OMIM:270200 |
| Cataract-Microcornea Syndrome |
|
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy |
ORPHA:1377 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Recurrent pneumonia, Recurrent otitis media, Neutropenia, Sa... |
OMIM:617475 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Enamel hypoplasia, Joint laxity, Patent ductus arteriosus, Recurrent urinary tract infections, Sh... |
OMIM:619293 |
| Schnitzler Syndrome |
|
Skin rash, Leukocytosis, Increased bone mineral density, Hepatomegaly, Anemia, Splenomegaly, Arth... |
ORPHA:37748 |
| Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Grant Syndrome |
|
Open bite, Abnormality of the glenoid fossa, Joint hyperflexibility, Abnormal palate morphology, ... |
ORPHA:2097 |
| Cerebellar-Facial-Dental Syndrome |
|
Long philtrum, Taurodontia, Macrodontia of permanent maxillary central incisor, Slender long bone... |
ORPHA:444072 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density |
OMIM:231095 |
| Coffin-Siris Syndrome 10 |
|
Clinodactyly, Wide mouth, Persistence of primary teeth |
OMIM:618506 |
| Hydrolethalus |
|
Tracheal atresia, Laryngomalacia |
ORPHA:2189 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Stillbirth, Micrognathia, Multiple unerupted teeth |
OMIM:183300 |
| Thymic Aplasia With Fetal Death |
|
Pulmonary hypoplasia, Ureteral agenesis, Stillbirth |
OMIM:274210 |
| Brachydactyly, Type B1 |
|
Broad thumb, Short middle phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the ha... |
OMIM:113000 |
| Orofaciodigital Syndrome Type 5 |
|
Enamel hypoplasia, Accessory oral frenulum, Postaxial polysyndactyly of foot, Postaxial hand poly... |
ORPHA:2919 |
| Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
| Orofaciodigital Syndrome Type 2 |
|
Y-shaped metacarpals, Hypoplasia of teeth, Tongue nodules, Broad first metatarsal, Natal tooth, H... |
ORPHA:2751 |
| Atkin-Flaitz Syndrome |
|
Genu valgum, Joint laxity, Short palm, Maxillary lateral incisor microdontia, Exaggerated median ... |
OMIM:300431 |
| Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Partial fusion of carpals, Long phalanx of finger, Wrist flexion contracture, High p... |
OMIM:305620 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Enamel hypoplasia, Folliculitis, Carious teeth, Scarring alopecia of scalp, Conjunctivitis, Kerat... |
OMIM:612843 |
| Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Multiple non-erupting secondary teeth, Genu valgum, Delayed eruption of primary teeth, Eruption f... |
OMIM:273050 |
| Renal Hypoplasia |
|
Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth... |
ORPHA:93101 |
| Endocrine-Cerebroosteodysplasia |
|
Microphallus, Hyperechogenic kidneys, Enlarged kidney, Polydactyly, Micropenis, Natal tooth, Prea... |
OMIM:612651 |
| Craniometadiaphyseal Dysplasia |
|
Genu valgum, Carious teeth, Dental crowding, Mandibular prognathia, Natal tooth, Broad long bones... |
OMIM:269300 |
| Primary Hyperoxaluria |
|
Nephrocalcinosis, Calcium oxalate nephrolithiasis, Hematuria, Elevated urine glycolate, Recurrent... |
ORPHA:416 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of limb bone morphology, Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, ... |
OMIM:118100 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Osteopetrosis, Distal renal tubular acidosis, Cranial hyperostosis,... |
OMIM:259730 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... |
ORPHA:363417 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology |
ORPHA:970 |
| Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Abnorm... |
ORPHA:2107 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Steep acetabular roof, Incomplete ossification of pubis, Extramedullary hematopoiesis, Natal toot... |
ORPHA:313855 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Downturned corners of mouth, Camptodactyly, Patent ductus arteriosus, Long philtrum, Flexion cont... |
ORPHA:487796 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal dental enamel morphology, Mandibular prognathia, Abnormality of the metacarpal bones, In... |
ORPHA:2658 |
| Galactosemia Ii |
|
Prolonged neonatal jaundice, Cataract |
OMIM:230200 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Dental malocclusion, Short mandibular rami, Tongue atrophy |
OMIM:141300 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Nephronophthisis, Macroglossia, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphysis,... |
OMIM:266920 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Flared iliac wing, Patent ductus arteriosus, Neutropenia, Acetabular dysplasia, Anemia, Leukopeni... |
OMIM:617303 |
| Craniosynostosis And Dental Anomalies |
|
Delayed eruption of teeth, Craniosynostosis, Lambdoidal craniosynostosis, Short phalanx of finger... |
OMIM:614188 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Enamel hypoplasia, Conical tooth, Cutaneous finger syndactyly, 2-3 toe cutaneous syndactyly, Wide... |
OMIM:613573 |
| Gaucher Disease Type 1 |
|
Osteolysis, Hematuria, Increased bone mineral density, Pancytopenia, Thrombocytopenia, Hepatomega... |
ORPHA:77259 |
| Cleidocranial Dysplasia |
|
Open bite, Carious teeth, Abnormal dental enamel morphology, Mandibular prognathia, Abnormality o... |
ORPHA:1452 |
| Rubinstein-Taybi Syndrome 2 |
|
Carious teeth, Narrow palate, Broad thumb, Broad hallux, Syndactyly, Retrognathia, Increased over... |
OMIM:613684 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus, Amenorrhea |
OMIM:277000 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Carious teeth, Failure to thrive |
OMIM:616353 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Oligomenorrhea, Hypopl... |
OMIM:615300 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Stillbirth, Micrognathia, Extramedullary hematopoiesis, Osteopetrosis, Pancytopenia, Thrombocytop... |
OMIM:259720 |
| Cleft Palate, Deafness, And Oligodontia |
|
Short hallux, Sandal gap, Cleft soft palate, Oligodontia of primary teeth, No permanent dentition |
OMIM:216300 |
| Rothmund-Thomson Syndrome |
|
Skin rash, Carious teeth, Abnormal dental enamel morphology, Hypoplasia of teeth, Neutropenia, Sm... |
ORPHA:2909 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Camptodactyly of finger, Abnormal dental enamel morphology, Taurodontia, Large hands, Abnormality... |
ORPHA:3220 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
| Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
Delayed eruption of teeth, Narrow palate, Short phalanx of finger, Finger syndactyly, Short foot,... |
OMIM:264475 |
| Potocki-Shaffer Syndrome |
|
Short philtrum, Downturned corners of mouth, Nephroblastoma, Decreased skull ossification, Anemia... |
ORPHA:52022 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Delayed eruption of teeth, Short philtrum, Abnormal dental enamel morphology, Mandibular prognath... |
ORPHA:2325 |
| Dyskeratosis Congenita |
|
Oral leukoplakia, Osteoporosis, Carious teeth, Taurodontia, Abnormality of neutrophils, Periodont... |
ORPHA:1775 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteoporosis, Macular scar, Ankylosis, Hydroxyprolinuria, Bowing of the long bones, Recurrent fra... |
OMIM:239000 |
| Trichoodontoonychial Dysplasia With Bone Deficiency |
|
Enamel hypoplasia, Anodontia |
OMIM:275450 |
| Trichorhinophalangeal Syndrome, Type I |
|
Coxa magna, Long philtrum, Carious teeth, Delayed eruption of teeth, Narrow palate, Short metatar... |
OMIM:190350 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Thin vermilion border, Lipoatrophy, Slender long bone, Osteopenia, Mic... |
OMIM:601812 |
| Cockayne Syndrome Type 2 |
|
Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of the primary teeth, Scarring, ... |
ORPHA:90322 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion |
OMIM:612529 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Abnormal cortical bone morphology, Coa... |
ORPHA:2635 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Hepatosplenomegaly, Anemia |
OMIM:273680 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Camptodactyly of finger, 4-5 finger syndactyly, Craniosynostosis, 2-5 finger syndactyly, Narrow m... |
ORPHA:468631 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Oligodontia, Agenesis of lateral incisor, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... |
OMIM:313500 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Skin rash, Craniosynostosis, Cellulitis, Joint hyperflexibility, Chron... |
ORPHA:2314 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Abnormality of the gingiva, Eosinophilia |
ORPHA:517 |
| Gastrointestinal Defects And Immunodeficiency Syndrome |
|
Enamel hypoplasia, Interface hepatitis, Autoimmune hemolytic anemia, Omphalocele, Hypoplasia of t... |
OMIM:243150 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... |
OMIM:618841 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis, Adducted thumb, Hernia, Talipes equinovarus, Hip dislocation, Osteopenia |
OMIM:616603 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Enamel hypoplasia, Joint hypermobility, Oligodontia, Dental crowding, Pierre-Robin sequence, Thic... |
OMIM:619184 |
| Pseudohypoparathyroidism Type 1C |
|
Enamel hypoplasia, Delayed eruption of teeth, Short fifth metatarsal, Short 3rd metacarpal, Short... |
ORPHA:79444 |
| Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia, Deep philtrum, Micrognathia, Increased bone mineral density |
ORPHA:1237 |
| Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Enamel hypoplasia, Osteoporosis, Thrombocytosis, Rickets, Thyroiditis, St... |
OMIM:212750 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... |
ORPHA:983 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
| H Syndrome |
|
Abnormality of the kidney, Osteolysis, Bronchiectasis, Microcytic anemia, Enlarged kidney, Campto... |
ORPHA:168569 |
| Atkin-Flaitz Syndrome |
|
Everted lower lip vermilion, Abnormality of the dentition, Thick vermilion border, Maxillary late... |
ORPHA:1193 |
| Diaphanospondylodysostosis |
|
Nephroblastomatosis, Enlarged kidney, Nephrogenic rest, Cystic renal dysplasia, Hammertoe, Absent... |
OMIM:608022 |
| Acrofacial Dysostosis, Weyers Type |
|
Overlapping fingers, Postaxial hand polydactyly, Abnormality of the dentition, Hypodontia, Solita... |
ORPHA:952 |
| Isolated Agammaglobulinemia |
|
Skin rash, Cellulitis, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Thr... |
ORPHA:229717 |
| Eem Syndrome |
|
Carious teeth, Abnormality of dental morphology, Finger syndactyly, Ectrodactyly, Selective tooth... |
ORPHA:1897 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Postaxial hand polydactyly, Erythroderma, Unilateral renal agenesis, Umbilical hernia, Multicysti... |
OMIM:308205 |
| Nail-Patella Syndrome |
|
Enamel hypoplasia, Abnormality of tibia morphology, Hematuria, Iliac horns, Abnormal digit morpho... |
ORPHA:2614 |
| X-Linked Non-Syndromic Intellectual Disability |
|
Shortening of all distal phalanges of the fingers, Long philtrum, Delayed eruption of teeth, Clin... |
ORPHA:777 |
| Familial Hyperprolactinemia |
|
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia |
ORPHA:397685 |
| Coach Syndrome 1 |
|
Nephronophthisis, Postaxial hand polydactyly, Unilateral renal agenesis, Wide mouth, Hepatomegaly... |
OMIM:216360 |
| Smith-Lemli-Opitz Syndrome |
|
Hip subluxation, Epiphyseal stippling, Dental crowding, Patent ductus arteriosus, Metatarsus addu... |
OMIM:270400 |
| Kallmann Syndrome With Spastic Paraplegia |
|
High palate, Micropenis, Eunuchoid habitus, Unilateral renal agenesis |
OMIM:308750 |
| Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Mandibular prognathia, Recurrent urinary tract infections, Ureteral at... |
OMIM:614527 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Thick vermilion border, Short 1s... |
OMIM:601957 |
| Craniofacioskeletal Syndrome |
|
Hypoplastic frontal sinuses, Choanal atresia, Hydronephrosis, Tracheal stenosis, Hypospadias |
OMIM:300712 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Talipes equinovarus, Renal insufficiency, Pierre-Robin sequence, Rhizomelia, Camptodactyly, Osteo... |
OMIM:611209 |
| Hypophosphatasia |
|
Craniosynostosis, Bowing of the long bones, Recurrent fractures, Abnormality of the dentition, Fa... |
ORPHA:436 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, A... |
ORPHA:432 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Long philtrum, Thin vermilion border, Craniosynostosis, Toe syndactyly, Radioulnar synostosis, Re... |
ORPHA:171839 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Short philtrum, Taurodontia, High, narrow palate, Macrodontia |
ORPHA:3214 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation, Carious teeth, Mitten deformity, Atrophic scars, Abnormality of th... |
ORPHA:79409 |
| Orofaciodigital Syndrome Vi |
|
Preaxial hand polydactyly, Toe syndactyly, Renal agenesis, Central Y-shaped metacarpal, Tongue no... |
OMIM:277170 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization |
OMIM:617217 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Club-shaped distal femur, Patchy sclerosis of finger phalanx, Metaphyseal ... |
OMIM:218400 |
| Desmosterolosis |
|
Renal agenesis, Narrow mouth, Micromelia, Patent ductus arteriosus, Osteopetrosis, Increased bone... |
ORPHA:35107 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Skin rash, Osteolysis, Abnormality of epiphysis morphology, ... |
ORPHA:324964 |
| Geleophysic Dysplasia 1 |
|
Camptodactyly of finger, Short nose, Wrist flexion contracture, Joint contracture of the hand, Tr... |
OMIM:231050 |
| Neurofaciodigitorenal Syndrome |
|
Triphalangeal thumb, Unilateral renal agenesis |
OMIM:256690 |
| Testicular Agenesis |
|
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... |
ORPHA:325124 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Unilateral renal agenesis, Renal agenesis, Retrognathia, Fused cervical vertebrae, Submucous clef... |
OMIM:619227 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Genu valgum, Macroglossia, Broad distal phalanx of finger, Hydroureter, Bilateral renal agenesis,... |
OMIM:619194 |
| Immunodeficiency, Common Variable, 6 |
|
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... |
OMIM:613496 |
| Tetrasomy 12P |
|
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ... |
ORPHA:884 |
| Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis |
|
Enamel hypoplasia, Shovel-shaped maxillary central incisors, Increased overbite, Dental crowding |
OMIM:600907 |
| Meier-Gorlin Syndrome 8 |
|
Narrow mouth, Renal hypoplasia, Thick vermilion border, Decreased body weight, Micrognathia |
OMIM:617564 |
| Immunodeficiency 33 |
|
Conical tooth, Delayed eruption of teeth, Hypodontia |
OMIM:300636 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Long philtrum, Macroglossia, Delayed eruption of teeth, Talipes equinovarus, Dental crowding, Cam... |
OMIM:616354 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted lower lip vermilion, Short distal phalanx of finger, Microdont... |
ORPHA:181 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Recurrent fractures, Hepatomegaly, Anemia, Splenomegaly, Gingivitis, Osteopenia, Premature loss o... |
OMIM:618107 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Enamel hypoplasia, 3-4 toe syndactyly, Oligodontia, Scarring alopecia of scalp, Persistence of pr... |
OMIM:618727 |
| Aarskog-Scott Syndrome |
|
Long philtrum, Delayed eruption of teeth, Camptodactyly of finger, Finger syndactyly, Joint hyper... |
ORPHA:915 |
| Proteus Syndrome |
|
Open mouth, Multiple lipomas, Mandibular hyperostosis, Thin bony cortex, Splenomegaly, Facial hyp... |
OMIM:176920 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet... |
OMIM:257850 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Enamel hypoplasia, Narrow mouth, Mitten deformity, Atrophic scars, Flexion contracture, Corneal s... |
OMIM:226600 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Limited wrist movement, Localized osteoporosis, Flattened femoral head, Increased bone mineral de... |
ORPHA:93284 |
| Blomstrand Lethal Chondrodysplasia |
|
Long philtrum, Abnormality of epiphysis morphology, Synostosis of joints, Rhizomelia, Natal tooth... |
ORPHA:50945 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Osteoporosis, Delayed eruption of teeth, Abnormality of the mouth, Clinodactyly of the 5th finger... |
ORPHA:73272 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hamartoma of tongue, Postaxial polydactyly, Short digit, Micropenis, Femoral bowing, Enlarged kid... |
OMIM:613091 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... |
|
