Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition |
OMIM:125440 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta, Osteoporosis |
ORPHA:71267 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2222 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Arthrogryposis multiplex congenita, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Familial Expansile Osteolysis |
|
Osteolysis, Elevated circulating alkaline phosphatase concentration, Pathologic fracture, Prematu... |
OMIM:174810 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta |
ORPHA:79129 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia |
OMIM:183300 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Paget Disease Of Bone 4 |
|
Elevated circulating alkaline phosphatase concentration, Osteolysis |
OMIM:606263 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
Trichodental Dysplasia |
|
Odontodysplasia, Hypodontia, Conical tooth |
OMIM:601453 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility, Dentinogene... |
ORPHA:166277 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Craniosynostosis, Cleft palate |
OMIM:600252 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Joint hyperflexibility, Hip osteoarthritis, Hypodontia |
ORPHA:63442 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Osteolysis, Abnormality of the dentition |
ORPHA:2776 |
Hypophosphatasia, Adult |
|
Premature loss of permanent teeth, Osteomalacia, Premature loss of primary teeth, Recurrent fract... |
OMIM:146300 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Hyperextensibility at e... |
OMIM:610967 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia, Joint stiffness |
ORPHA:2871 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2026 |
Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... |
ORPHA:2025 |
Xanthoma Disseminatum |
|
Abnormal lip morphology, Osteolysis |
ORPHA:158003 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna... |
OMIM:613849 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
Gorham-Stout Disease |
|
Osteopenia, Abnormality of the temporomandibular joint, Osteomyelitis, Elevated alkaline phosphat... |
ORPHA:73 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Recurrent fractures, Multiple prenatal fractures, Dentinogenesis imperfecta, Joint hy... |
OMIM:301014 |
Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Gingival fibroma... |
OMIM:228600 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of lim... |
OMIM:259440 |
Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Osteolysis, ... |
ORPHA:3019 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Dental enamel pits |
OMIM:619787 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral density, Dentinogenesis im... |
OMIM:619795 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Trichodentoosseous Syndrome |
|
Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth |
OMIM:190320 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Medial Condensing Osteitis Of The Clavicle |
|
Limited shoulder movement, Patchy reduction of bone mineral density |
ORPHA:57196 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth, Osteopenia, Reduced bone mineral density |
OMIM:619489 |
Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp... |
OMIM:618761 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Juvenile Hyaline Fibromatosis |
|
Progressive flexion contractures, Joint stiffness, Gingival fibromatosis, Osteolysis, Gingival ov... |
ORPHA:2028 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth |
OMIM:161000 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Carious teeth, Generalized hypoplasia of dental enamel, Flexion contracture |
OMIM:203550 |
17Q11.2 Microduplication Syndrome |
|
Malar flattening, Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology |
ORPHA:139474 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Joint hyperflexibility, Retrognathia, Dentinogenesis imperfecta |
ORPHA:166272 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Increased spinal bone density, Recurrent... |
ORPHA:329475 |
Osteosclerotic Metaphyseal Dysplasia |
|
Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Clavicul... |
OMIM:615198 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Heimler Syndrome 1 |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:234580 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis... |
OMIM:122860 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth |
ORPHA:99811 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Elevated circulating alkaline phosphatase concentration, Osteolysis,... |
OMIM:167250 |
Osteosarcoma |
|
Increased circulating lactate dehydrogenase concentration, Abnormal lactate dehydrogenase level, ... |
ORPHA:668 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Osteomalacia, Abnormality of the dentition, Rickets, Elevated circulating alkaline phosphatase co... |
OMIM:193100 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Recurrent fractures, Micrognathia, Reduced bone mineral density, Microdontia, Coronal... |
OMIM:112240 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Enamel hypoplasia |
OMIM:226700 |
Anonychia With Flexural Pigmentation |
|
Carious teeth |
ORPHA:69125 |
Hypophosphatasia, Childhood |
|
Carious teeth, Premature loss of primary teeth, Low alkaline phosphatase, Craniosynostosis |
OMIM:241510 |
Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Gingival bleeding |
OMIM:606893 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Camptodactyly of finger, Joint stiffness, Osteo... |
ORPHA:137834 |
Weismann-Netter Syndrome |
|
Calvarial hyperostosis, Delayed eruption of permanent teeth |
OMIM:112350 |
Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79402 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Thick vermilion border |
ORPHA:363523 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Cl... |
OMIM:144750 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o... |
ORPHA:210110 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia |
OMIM:613576 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Elevated circulating alkaline phosp... |
OMIM:126550 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the... |
ORPHA:3145 |
Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
Congenital Myopathy 14 |
|
Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexion contracture, El... |
OMIM:618414 |
Hall-Riggs Syndrome |
|
Thick lower lip vermilion, Osteoporosis, Microdontia of primary teeth, Hypoplasia of the primary ... |
OMIM:234250 |
Stimmler Syndrome |
|
Microdontia, Abnormal dental enamel morphology |
ORPHA:3199 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia, Osteoporosis |
OMIM:612463 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Osteolysis, Downturned corne... |
ORPHA:2774 |
Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Malabsorption, Congenital ... |
ORPHA:77297 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Hypodontia |
ORPHA:1816 |
Van Buchem Disease |
|
Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Cranial ... |
OMIM:239100 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Apnea, Fatty replacement of skeletal muscle, Flexion contracture, Congen... |
OMIM:256030 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion |
ORPHA:181 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density |
ORPHA:970 |
Craniosynostosis 3 |
|
Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right unicoronal syno... |
OMIM:615314 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Carious teeth, Reduced bone mineral density, Abnormality of the dentition |
ORPHA:2501 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Microretrognathia, Hip contracture, Micrognathia, Carious teeth, Pierre-Ro... |
OMIM:618363 |
Hypophosphatasia, Infantile |
|
Apnea, Elevated plasma pyrophosphate, Craniosynostosis, Bowing of the legs, Hypercalcemia, Increa... |
OMIM:241500 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ... |
OMIM:166220 |
Hutchinson-Gilford Progeria Syndrome |
|
Malar flattening, Osteolysis, Generalized osteoporosis, Micrognathia |
OMIM:176670 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Ankylosis, Abnormal... |
ORPHA:659 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Respiratory insuffici... |
ORPHA:97229 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Apnea, Thrombocytopenia, Cerebellar hemorrhage, Tachypnea, Osteoporos... |
OMIM:606054 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Ataxia, Elevated circulating creatine kinase concentration... |
ORPHA:42 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... |
OMIM:259420 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Cachexia, Congestive heart failure, Flexion contracture, Limitation of j... |
ORPHA:157973 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration,... |
OMIM:613312 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Seizure, Hepatic vascular malformations, Cerebral cavernous malformation |
OMIM:116860 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens... |
OMIM:136300 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Recurrent fractures, Increased susceptibility to fractures, Dentinogene... |
OMIM:610968 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Hip contracture, Prolonged b... |
ORPHA:169805 |
Snakebite Envenomation |
|
Myocardial infarction, Neuromuscular dysphagia, Intracranial hemorrhage, Vomiting, Respiratory pa... |
ORPHA:449285 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Carious teeth, Radioulnar synostosis, Abnormal palate morphology, Abnormality of the dentition |
ORPHA:3270 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car... |
ORPHA:3238 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Osteopenia, Dental crowding, Carious teeth, Wide anterior fon... |
OMIM:269300 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Enamel hypoplasia |
ORPHA:251393 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To... |
ORPHA:2863 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Ataxia, Cachexia, Malabsorption, Gastrointestinal dysmotility, Rag... |
OMIM:613662 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Congest... |
ORPHA:52430 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Intracr... |
ORPHA:85212 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia |
OMIM:616029 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, Enamel hypominerali... |
ORPHA:3352 |
Keratoderma Hereditarium Mutilans |
|
Osteolysis, Cleft palate |
ORPHA:494 |
Junctional Epidermolysis Bullosa Inversa |
|
Carious teeth, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79405 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... |
ORPHA:952 |
48,Xyyy Syndrome |
|
Thick lower lip vermilion, Irregularly spaced teeth, Radioulnar synostosis, High palate, Long phi... |
ORPHA:99329 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Premature loss of primary teeth, Hypoplasia of teeth |
ORPHA:248 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Cachexia, Diarrhea, Gait ataxia, Weight loss, Seizure, Vomiting, Status epi... |
OMIM:612075 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow |
OMIM:618506 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Elevated circulating alkaline phosphatase concentration, Osteomalacia, Rickets, Tooth abscess |
ORPHA:89937 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Osteolysis, Increased susceptibility to fractures, Sclerosis of skul... |
OMIM:602080 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased muscle mass, Gastrointestinal dysmotility, R... |
ORPHA:298 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, High palate, Joi... |
OMIM:147060 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Joint laxity, High, narrow palate, Dental malocclusion |
OMIM:619692 |
Benign Familial Infantile Epilepsy |
|
Apnea, Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Generalized cloni... |
ORPHA:306 |
Pycnodysostosis |
|
Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ... |
OMIM:265800 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Premature loss of primary teeth, Abnormality of the dentition, Recurrent fractures,... |
ORPHA:93160 |
Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion |
OMIM:155050 |
Eem Syndrome |
|
Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely spaced teeth, Microdo... |
ORPHA:1897 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl... |
ORPHA:169802 |
Rosaï-Dorfman Disease |
|
Osteolysis |
ORPHA:158014 |
Heimler Syndrome 2 |
|
Dental crowding, Amelogenesis imperfecta |
OMIM:616617 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Enamel hypoplasia |
ORPHA:2643 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Intestinal perforation, Osteolysis involving bones of the upper limbs, Bloody diarrhea, Intracran... |
ORPHA:464321 |
Mu-Heavy Chain Disease |
|
Osteoporosis, Osteolysis |
ORPHA:100024 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Carious teeth, Enamel hypoplasia |
OMIM:226670 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Finger joint hypermobilit... |
OMIM:166200 |
Familial Cervical Artery Dissection |
|
Abnormal circulating lipid concentration, Carotid artery dissection, Transient ischemic attack, F... |
ORPHA:36382 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Recurrent fractures, High palate, Lambdoidal craniosynostosis, Cor... |
OMIM:616294 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Hyponatremia, Ataxia, Myositis, Myocardi... |
ORPHA:3452 |
Variant Abeta2M Amyloidosis |
|
Multiple bony cystic lesions, Abnormal vascular morphology, Intestinal perforation, Abnormal skel... |
ORPHA:314652 |
2Q24 Microdeletion Syndrome |
|
Central apnea, Toe syndactyly, Small for gestational age, Camptodactyly of finger, Long fingers, ... |
ORPHA:1617 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Hypomagnesemia, Diarrhea, Clubbing, Xerostomia, Hematochezia, Hamartomat... |
OMIM:175500 |
Brittle Cornea Syndrome 1 |
|
Joint laxity, Dentinogenesis imperfecta |
OMIM:229200 |
Aggressive Systemic Mastocytosis |
|
Bone pain, Neutropenia, Portal hypertension, Leukocytosis, Osteoporosis, Hepatosplenomegaly, Lymp... |
ORPHA:98850 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Oligodontia, Cranial hyperostosis, Hypodontia |
OMIM:601345 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Cachexia, Tapered finger, Malabsorption, Splenomegaly, Diarrh... |
ORPHA:2930 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Osteoporosis, Delayed ossification of carpal bones, Long philtrum, Den... |
OMIM:184260 |
Benign Familial Neonatal Epilepsy |
|
Apnea, Simple febrile seizure, Focal-onset seizure, Focal autonomic seizure, Focal tonic seizure,... |
ORPHA:1949 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... |
ORPHA:98878 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Carious teeth, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79406 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Osteoglosphonic Dysplasia |
|
Craniosynostosis, Micrognathia, Tooth agenesis, Multiple unerupted teeth, Abnormal bone ossification |
ORPHA:2645 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H... |
OMIM:619736 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Carious ... |
OMIM:259710 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Apnea, Cardiac arrest, Bilateral tonic-clonic seizure, Focal motor seizure, Vomitin... |
OMIM:618235 |
Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Apnea, Clonic seizure, Chorea, Athetosis, Myoclonus, Dysphagia, Increased vari... |
OMIM:617235 |
Christianson Syndrome |
|
Decreased muscle mass, Generalized-onset seizure, Cachexia, Dysphagia, Gait ataxia, Joint hyperfl... |
ORPHA:85278 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Recurrent f... |
ORPHA:1782 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Ataxia, Apnea, Split hand, Respiratory insufficiency, Vascular granular osmiophilic material depo... |
OMIM:610127 |
Pili Torti, Early-Onset |
|
Enamel hypoplasia |
OMIM:261900 |
Congenital Factor Xiii Deficiency |
|
Post-partum hemorrhage, Delayed onset bleeding, Inflammation of the large intestine, Ecchymosis, ... |
ORPHA:331 |
Idiopathic Bronchiectasis |
|
Myocardial infarction, Crackles, Productive cough, Dyspnea, Wheezing, Cachexia, Clubbing, Bronchi... |
ORPHA:60033 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... |
ORPHA:53697 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Red... |
OMIM:614856 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating alkaline p... |
OMIM:600785 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic disc pallor, Skeletal muscle atrophy, Ataxia, Apnea, Optic atrophy, Respiratory insufficien... |
OMIM:618228 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia |
OMIM:614450 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Dyspnea, Asthma, Chronic pulmonary obstruction... |
ORPHA:1163 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Delayed eruption of permanent teeth, Broad alveolar ridges, Patchy scleros... |
OMIM:218400 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Limb joint contracture, Cachexia, Flexion contracture,... |
OMIM:618186 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the dentition, Osteoarthritis, Osteolysis, Oligodontia |
ORPHA:1657 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Hepatomegaly, Ataxia, Apnea, Optic atrophy, Respiratory insufficiency, Seizure, Vomiting, Dysphag... |
OMIM:618226 |
Laron Syndrome |
|
Delayed eruption of teeth, Micrognathia, Osteoarthritis, Tooth agenesis, Microdontia |
ORPHA:633 |
Mirage Syndrome |
|
Intracranial hemorrhage, Leukopenia, Gastroesophageal reflux, Aspiration pneumonia, Achalasia, Hy... |
OMIM:617053 |
Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Abnormal femur morphology, Cough, Ecchymosis, Abnormal bleeding, Hepatosplen... |
ORPHA:464329 |
Sneddon Syndrome |
|
Facial palsy, Cerebral hemorrhage, Hypertension, Atrophic scars, Seizure, Ischemic stroke, Stroke... |
OMIM:182410 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Wei... |
ORPHA:3226 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Myelofibrosis, Skeletal muscle atrophy, Generalized lymphadenopathy, Cholan... |
ORPHA:3260 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi... |
OMIM:202400 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Facial palsy, Recurrent fractures, Mandibular osteo... |
ORPHA:53 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Carious teeth, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79411 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Recurrent fractures, Osteoporosis, Reduced bone mineral density, Dentinogenesis imp... |
OMIM:616507 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia |
OMIM:618349 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Failure to thrive, Pancytopenia, Femur fracture, Facial palsy, Increased bone miner... |
OMIM:259700 |
Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Micrognathia, Radioulnar synostosis, Hypodontia, Malar flatten... |
OMIM:212780 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum |
OMIM:618825 |
Oslam Syndrome |
|
Carious teeth, Radioulnar synostosis |
ORPHA:2760 |
Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Micrognathia, Gingival overgrowth, Decreased calvarial ossification, Malar flattenin... |
OMIM:614592 |
Pseudo-Torch Syndrome 3 |
|
Apnea, Cerebral hemorrhage, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentra... |
OMIM:618886 |
Hypophosphatasia |
|
Bowing of the long bones, Failure to thrive in infancy, Hypercalcemia, Craniosynostosis, Recurren... |
ORPHA:436 |
Pili Torti |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:2889 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... |
ORPHA:884 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermilion, Overjet, ... |
OMIM:618342 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperostosis, Pulp calcification, Taurodontia, Subperiosteal bone formation, Enamel hypoplasia |
OMIM:211900 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Apneic episodes in infancy, Seizure, Failure to thrive, Flexion contracture |
ORPHA:500545 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
Pontocerebellar Hypoplasia Type 4 |
|
Central apnea, Respiratory failure requiring assisted ventilation, Seizure, Myoclonus, Arthrogryp... |
ORPHA:166063 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Flexion contracture |
OMIM:270200 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrogna... |
OMIM:619269 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Hepatomegaly, Apnea, Congestive heart failure, Bradycardia, Left ventricular hyp... |
OMIM:619048 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth |
OMIM:101805 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Abnormal metaphysis morphology, Recurrent fractures |
ORPHA:417 |
Benign Familial Neonatal-Infantile Seizures |
|
Apnea, Bilateral tonic-clonic seizure, Tonic seizure, Focal clonic seizure, Episodic ataxia, Neon... |
ORPHA:140927 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Anti-Glomerular Basement Membrane Disease |
|
Arthritis, Persistence of primary teeth |
ORPHA:375 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Ataxia, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Seizure, Status ... |
ORPHA:71277 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... |
OMIM:614669 |
Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... |
ORPHA:89936 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Thick lower lip vermilion, Wi... |
OMIM:619797 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Osteomalacia, Abnormal zygomatic bone morphology, Fibrous dysplasia of the bone... |
ORPHA:249 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnor... |
ORPHA:1328 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Reticulocytosis, Hepatomegaly, Increased bone mineral density, Facial palsy, R... |
OMIM:611490 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Thin upper lip vermilion, Dental crowding, Low alkaline phosphatase |
OMIM:618879 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, High, narrow palate, Flexion ... |
ORPHA:171433 |
Heparin-Induced Thrombocytopenia |
|
Myocardial infarction, Pulmonary embolism, Autoimmune thrombocytopenia, Abnormal onset of bleedin... |
ORPHA:3325 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Apnea, Optic atrophy, Seizure, Myopathy, Hypertrophic cardiomyopathy |
OMIM:618236 |
Joubert Syndrome 33 |
|
Splenomegaly, Syndactyly, Ataxia, Apnea |
OMIM:617767 |
48,Xxyy Syndrome |
|
Inguinal hernia, Ataxia, Abnormal dental enamel morphology, Apnea, Cryptorchidism, Asthma, Obesit... |
ORPHA:10 |
Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Osteopenia, Telangiectasia of the skin, Camptodactyly ... |
ORPHA:2176 |
Mulibrey Nanism |
|
Dental crowding, Absent frontal sinuses, Thickened cortex of long bones, Hypoplastic frontal sinu... |
OMIM:253250 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
Pseudohypoaldosteronism Type 2 |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Elevated circulating creatine kinase concentration, Split h... |
ORPHA:168486 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth |
OMIM:619356 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia, Histiocytosis |
ORPHA:139436 |
Ravine Syndrome |
|
Ataxia, Apnea, Abnormal auditory evoked potentials, Decreased body weight, Failure to thrive |
ORPHA:99852 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Recurrent fractures, Bone pain, Abnormal neck blood vessel... |
ORPHA:319487 |
Developmental And Epileptic Encephalopathy 99 |
|
Central apnea, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizur... |
OMIM:619606 |
Primary Myelofibrosis |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Port... |
ORPHA:824 |
Seckel Syndrome 5 |
|
Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hypodontia, Ename... |
OMIM:613823 |
Developmental And Epileptic Encephalopathy 61 |
|
Apnea, Bilateral tonic-clonic seizure with focal onset, Optic atrophy, Seizure, High palate, Foca... |
OMIM:617933 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Bone pain, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Leukocytosis,... |
ORPHA:98849 |
Mazabraud Syndrome |
|
Fibrous dysplasia of the bones, Bone pain, Recurrent fractures |
ORPHA:57782 |
Bile Acid Conjugation Defect 1 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
OMIM:619232 |
Monosomy 5P |
|
Finger syndactyly, Inguinal hernia, Recurrent fractures, Small hand, Joint hyperflexibility, High... |
ORPHA:281 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Apnea, Ataxia, Myoclonic seizure, Seizure, Vomiting, Myoclonus |
OMIM:618225 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Apnea, Bilateral tonic-clonic seizure, Respiratory insufficiency, Seizure, High palate, Gastroeso... |
ORPHA:209370 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Enamel hypoplasia, Widely spaced teeth, Conical tooth |
OMIM:613573 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Dental crowding, Limited elbow movement, Micrognathia, Joint stiffness, Flexio... |
OMIM:614008 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Dyspnea, Thrombocytopenia, Splenomegaly, Bo... |
OMIM:230800 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Multifocal seizures, Apnea, Focal motor status epilepticus, Focal-onset seizure,... |
OMIM:614498 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Cerebral hemorrhage, Pulmonary embolism, Seizure, Anemia, Purpura |
OMIM:614514 |
Tricho-Retino-Dento-Digital Syndrome |
|
Oligodontia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:1264 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Elevated circulating creatine kinase concentration, Increased muscle lipid content, Knee f... |
OMIM:608836 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Bilateral tonic-clonic seizure, Cachexia, Chorea, Dysmetria, Gait ataxia, Dysphagia |
OMIM:618093 |
Rett Syndrome |
|
Skeletal muscle atrophy, Apnea, Intermittent hyperventilation, Cachexia, Gait ataxia, Short foot,... |
OMIM:312750 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth... |
ORPHA:1133 |
Pontocerebellar Hypoplasia, Type 6 |
|
Generalized-onset seizure, Apnea, Elbow contracture, Narrow palate, Seizure, Gastroesophageal ref... |
OMIM:611523 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl... |
OMIM:273800 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:245660 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Dental malocclusion, Abnormality of the dentition |
ORPHA:1858 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated ... |
OMIM:211600 |
Seizures, Benign Familial Infantile, 1 |
|
Generalized-onset seizure, Apnea, Bilateral tonic-clonic seizure with focal onset, Focal-onset se... |
OMIM:601764 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea, Hypoglycinemia, Hyposerinemia, Seizure, Myoclonus |
OMIM:610992 |
Ollier Disease |
|
Osteolysis, Joint stiffness |
ORPHA:296 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea, Ataxia, Clonic seizure, Chorea, Optic atrophy, Seizure, Status epile... |
ORPHA:79097 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Elevated circulating creatine kinase concentration, Respiratory insufficiency, Respiratory... |
OMIM:613869 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia, Joint stiffness |
ORPHA:1216 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Recurrent fractures, Carious teeth, Delayed epiphyseal ossification, R... |
OMIM:277440 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... |
OMIM:605809 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Malar flattening, Dental malocclusion, Widely spaced teeth |
OMIM:616108 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Impaired pain sensation, Joint stiffness, Bone cyst, S... |
ORPHA:2047 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay |
|
Osteopenia, Seizure, Recurrent fractures |
OMIM:619884 |
Mucopolysaccharidosis Type 1 |
|
Inguinal hernia, Sinusitis, Apnea, Abnormality of the tonsils, Malabsorption, Cough, Congestive h... |
ORPHA:579 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Enamel hypoplasia |
OMIM:612843 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Generalized-onset seizure, Jejunal atresia, Apnea, Febrile status epilepticus, Tapered finger, To... |
OMIM:612949 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Eosinophilia, Malabsorption, Elevat... |
ORPHA:2070 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Osteopenia, Joint laxity, Camptodactyly of finger, Dental malocclusion... |
OMIM:612350 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Decreased calvarial o... |
OMIM:610915 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Recurrent fractures, Abnormal neck blood vessel morphology... |
ORPHA:97290 |
Pontocerebellar Hypoplasia Type 2 |
|
Apnea, Bilateral tonic-clonic seizure with generalized onset, Simple febrile seizure, Oral-pharyn... |
ORPHA:2524 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Rectal prolapse, Hamartomatous polyposis, Intestinal bleeding, Protein-losin... |
ORPHA:79076 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Small for gestational age, Optic atrophy, Bronchiectasis, Respiratory insufficiency, Neutr... |
OMIM:618253 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Joint stiffness, Flexi... |
ORPHA:1979 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy, Weight loss |
ORPHA:52416 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Seizure, Optic atrophy, Recurrent fractures |
ORPHA:2773 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Craniofacial osteosclerosis, Osteolysis, Hyperostosis, Arthritis |
ORPHA:324964 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Recurrent fracture... |
OMIM:619377 |
Alexander Disease Type I |
|
Ataxia, Cachexia, Seizure, Vomiting, Dysphagia, Palatal tremor, Failure to thrive |
ORPHA:363717 |
Diffuse Cutaneous Systemic Sclerosis |
|
Carious teeth, Arthritis, Flexion contracture, Osteolysis |
ORPHA:220393 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Joint stiffness, Downturned corners... |
ORPHA:2107 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Microvesicular hepatic steatosis, Chorea, Reduced bone mineral densit... |
ORPHA:404454 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Char Syndrome |
|
Persistence of primary teeth, No permanent dentition, Symphalangism of the 5th finger, Thick verm... |
ORPHA:46627 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ... |
ORPHA:2919 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... |
ORPHA:465 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Re... |
ORPHA:93941 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ... |
OMIM:601216 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Apnea, Metatarsus adductus, Cry... |
OMIM:214110 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Apnea, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Respiratory insufficiency, ... |
OMIM:617290 |
Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Neonatal respiratory distress, Apnea, Flexion contracture, Hyperammonemia, Seiz... |
OMIM:610015 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Secretory diarrhea, Abnormal blood ion concentration, Iron defici... |
ORPHA:37042 |
Infantile Myofibromatosis |
|
Gingival fibromatosis, Bone cyst, Osteolysis, Limitation of joint mobility |
ORPHA:2591 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular condyle h... |
OMIM:602483 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Diar... |
ORPHA:99828 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Bowel incontinence, Cachexia, Joint stiffness, Optic atroph... |
ORPHA:702 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachexia, Tapered fi... |
OMIM:616801 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse ... |
OMIM:264700 |
Camurati-Engelmann Disease, Type 2 |
|
Osteopenia, Hip contracture, Knee flexion contracture, Hyperostosis, Elevated circulating alkalin... |
OMIM:606631 |
Immunodeficiency 27A |
|
Abnormal bronchus physiology, Hypoplasia of the femoral head, Pneumonia, Splenomegaly, Diarrhea, ... |
OMIM:209950 |
Idiopathic Achalasia |
|
Wheezing, Dysphagia, Weight loss, Gastroesophageal reflux, Cough, Decreased prealbumin level, Rec... |
ORPHA:930 |
Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Delayed phala... |
ORPHA:420561 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Dyspnea, Abnormal cardiovascular system physiology, Abnormal ... |
ORPHA:50251 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Seizures, Benign Familial Infantile, 3 |
|
Focal impaired awareness seizure, Apnea, Bilateral tonic-clonic seizure with focal onset, Bilater... |
OMIM:607745 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aplasia/Hypoplasia of fingers, Cleft pal... |
ORPHA:141152 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti... |
ORPHA:69087 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, Macroglossia, Camptodactyly, High palate, Thick vermi... |
OMIM:616354 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Cachexia, Joint stiffness, Abnormal thumb morphology, High, narrow palat... |
ORPHA:3242 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Carious teeth, Joint hyperflexibility, Malar flattening, Retrognathia, Abnormal palate morphology |
ORPHA:1390 |
Menkes Disease |
|
Joint laxity, Epileptic spasm, Decreased circulating ceruloplasmin concentration, Metaphyseal spu... |
OMIM:309400 |
Tenosynovial Giant Cell Tumor |
|
Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness |
ORPHA:66627 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Vertebral fusion, Delayed eruption of permanent teeth, Camptodactyly |
OMIM:113000 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Arachnodactyly, Recurrent fractures, Pulmonary embolis... |
ORPHA:394 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Thrombocyt... |
ORPHA:77259 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage, Respiratory insufficiency |
OMIM:215550 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Central apnea, Bilateral tonic-clonic seizure, Dysmetria, Gait ataxia, Gastroesophageal reflux, H... |
OMIM:615031 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Flexion contracture, Osteoporosis, Elbow ... |
OMIM:214150 |
Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Seizure, Vomiting, Bone marrow hypocellularity, ... |
OMIM:243500 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Seizure, Apnea |
OMIM:615228 |
Alopecia Antibody Deficiency |
|
Abnormality of dental color |
ORPHA:1006 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Hip contracture, Elbow flexion contracture, Knee flexion contracture, Elevated circul... |
OMIM:616809 |
Blepharo-Cheilo-Odontic Syndrome |
|
Carious teeth, Bilateral cleft lip and palate, Conical tooth |
ORPHA:1997 |
Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Flexion contracture |
OMIM:617105 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Knee flexion contracture, Femoral bowing, Tibial bowing, Smooth tongue, Short tibia, Short... |
OMIM:601559 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Hypodontia, Abnormality of the dentition |
ORPHA:289494 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Hepatomegaly, Methylmalonic acidemia, Cerebellar hemorrhage, Hyperammonemia... |
OMIM:251000 |
Osteopetrosis, Autosomal Dominant 2 |
|
Facial palsy, Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, General... |
OMIM:166600 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Cachexia, Joint stiffness |
ORPHA:1144 |
Eiken Syndrome |
|
Persistence of primary teeth, Delayed epiphyseal ossification, Thick lower lip vermilion, Eruptio... |
OMIM:600002 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Respiratory failure, Respiratory insufficiency, Tonic seizure |
OMIM:611722 |
Fibrodysplasia Ossificans Progressiva |
|
Progressive cervical vertebral spine fusion, Ectopic ossification in tendon tissue, Ectopic ossif... |
OMIM:135100 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Camptodactyly of finger, Open bite, Abnormality of dental eruption, Dental... |
ORPHA:1327 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, De... |
OMIM:620099 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Ataxia, Retinal telangiectasia, Metaphyseal sclerosis, Thro... |
OMIM:612199 |
Coffin-Siris Syndrome 3 |
|
Joint laxity, Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permanent teeth, Thick ... |
OMIM:614608 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Ataxia, Apnea, Facial hypotonia, Flexion contracture, Small hand, Obesity, Choreoathetosis, Seizu... |
OMIM:300055 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Elevated circulating alkaline phosphatase concentration |
OMIM:619073 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Skeletal muscle atrophy, Congenital hip dislocation, Multiple joint contractures, ... |
OMIM:618291 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... |
ORPHA:2198 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Elevated circulating alkaline p... |
OMIM:307800 |
Wilson Disease |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Bone pain, Increased body weight, Hepatit... |
ORPHA:905 |
Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Centrally nucleate... |
OMIM:615368 |
Refractory Celiac Disease |
|
Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Increase... |
ORPHA:398063 |
Sneddon Syndrome |
|
Chorea, Arterial stenosis, Intracranial hemorrhage, Hypertension, Seizure |
ORPHA:820 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth |
OMIM:620193 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia, Weight loss, Elevated carcinoem... |
ORPHA:100083 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Micrognathia, Abnormality of the dentition, Osteolysis, Osteolytic defects of the distal phalange... |
ORPHA:90154 |
Papillon-Lefèvre Syndrome |
|
Severe periodontitis, Premature loss of primary teeth, Abnormality of the dentition, Osteolysis, ... |
ORPHA:678 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Camptodactyly of finger, Cleft upper lip, Hypoplasia of the maxilla, A... |
ORPHA:915 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... |
ORPHA:90068 |
Braddock-Carey Syndrome 1 |
|
Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, Thick vermilion border, Camptod... |
OMIM:619980 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Apnea, Respiratory insufficiency, Knee flexion contracture, Distal arthrogryposis, Dysphagia, Cam... |
OMIM:618198 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth |
OMIM:272300 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Advanced eruption of teeth, High palate |
OMIM:262190 |
Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Ataxia, Cachexia, Abnormal circulating creatine concentration, Chorea, Ile... |
ORPHA:52503 |
Pulmonary Blastoma |
|
Weight loss, Dyspnea, Recurrent pneumonia, Cough |
ORPHA:64741 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Pain insensitivity, Osteomyelitis, Impaired temperature sensation, Distal sensory impairment, Lim... |
ORPHA:36386 |
Desmoid Tumor |
|
Limitation of joint mobility, Osteolysis |
ORPHA:873 |
Abetal34V Amyloidosis |
|
Somatic sensory dysfunction, Abnormal cerebral vascular morphology, Cerebral hemorrhage, Stroke, ... |
ORPHA:324703 |
Wolman Disease |
|
Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Anemia |
ORPHA:75233 |
Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy, Leukopenia, Vomiting, Nausea, Hepatomegaly, Delayed skeletal maturation,... |
OMIM:222700 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization |
ORPHA:494444 |
Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Elevated circulating ... |
OMIM:185070 |
Developmental And Epileptic Encephalopathy 101 |
|
Apnea, Limb joint contracture, Seizure, Gastroesophageal reflux, Third degree atrioventricular bl... |
OMIM:619814 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Osteolysis i... |
ORPHA:371428 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Apnea, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myo... |
OMIM:600721 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Bowing of the long bones, Apnea, Recurrent fractures, Craniosynostosis, Optic nerve... |
ORPHA:667 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alv... |
OMIM:616050 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Stomatitis |
OMIM:612852 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Carious teeth, Limb joint contracture, Hypodontia |
OMIM:612079 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Hypoplastic ilia, Flare... |
OMIM:615349 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Apnea, Infantile spasms, Cryptorchidism, Jaundice, Flexion contracture, Respiratory insufficiency... |
OMIM:608093 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Micrognathia, Generalized joint laxity, Decreased calvarial ossificatio... |
OMIM:613848 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Micrognathia, Crowded maxillary incisors, Narrow palate, Tooth agenesis, Multiple unerupted teeth... |
ORPHA:2063 |
Multiple Enchondromatosis, Maffucci Type |
|
Multiple enchondromatosis, Pathologic fracture |
OMIM:614569 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar... |
OMIM:618727 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Abnormal hemidiaphragm morphology, Asthma, Tachypnea, Pneum... |
ORPHA:2257 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Carious teeth, Osteopenia, Calvarial hyperostosis |
OMIM:612714 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Recurrent fractures, Abnormal dental enamel morphology, Micrognathia, ... |
ORPHA:2050 |
Lysosomal Acid Lipase Deficiency |
|
Precocious atherosclerosis, Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated ... |
ORPHA:275761 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Short philtrum, Cleft palate |
OMIM:617337 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Enamel hypoplasia, Subcutaneous ossification, Osteoporosis |
OMIM:103580 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Sagittal craniosynostosis, Micrognathia |
OMIM:616901 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Cachexia, Decreased nerve c... |
ORPHA:206436 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Central apnea, Dysmetria, Gait ataxia, Seizure, Hypomimic face |
ORPHA:320385 |
Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Infantile spasms, Impaired pain sensation, Small hand,... |
ORPHA:3095 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Multiple prenata... |
OMIM:616867 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... |
ORPHA:100025 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Supernumerary tooth, Increased susceptibility to fractures, High pa... |
OMIM:619752 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Failure to thrive, Craniosynostosis, Protruding tongue, Accelerated ske... |
ORPHA:561 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Skeletal muscle atrophy, Angina pectoris, Abnormal large intestine morpholo... |
ORPHA:109 |
Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Thick lower lip vermilion, Cleft palate, Wide mouth, Macroglossia, Thi... |
OMIM:614607 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Congestive heart failure, Dysphagia, Short long b... |
OMIM:619751 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Apnea, Central hypoventilation, Respiratory insufficiency, Seizure, Gastroesophageal reflux, Myoc... |
OMIM:300673 |
Pachyonychia Congenita 2 |
|
Oral leukoplakia, Natal tooth, Angular cheilitis |
OMIM:167210 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo... |
ORPHA:774 |
Primary Angiitis Of The Central Nervous System |
|
Cerebral vasculitis, Transient ischemic attack, Ataxia, Intracranial hemorrhage, Seizure, Pseudop... |
ORPHA:140989 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Tachypnea, Leukopenia, Hepatomegaly, Ataxia, Leukocytosis, Dilated cardiomyopathy, Seizure... |
ORPHA:20 |
Menkes Disease |
|
Venous insufficiency, Chorea, Intracranial hemorrhage, Hernia, Osteoporosis, Seizure, Joint hyper... |
ORPHA:565 |
Focal Facial Dermal Dysplasia Type Iv |
|
Scarring, Focal-onset seizure, Cleft palate, Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Hyper... |
ORPHA:35909 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Pycnodysostosis |
|
Joint laxity, Obtuse angle of mandible, Increased bone mineral density, Delayed eruption of prima... |
ORPHA:763 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Arachnodactyly, Cachexia, Elbow flexion contracture, Small hand, Knee flexion co... |
ORPHA:371364 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Submucous cleft hard palate, Cleft palat... |
ORPHA:2712 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Bone pain, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramu... |
ORPHA:79 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, M... |
OMIM:224300 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... |
ORPHA:3002 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:614483 |
Leukodystrophy, Hypomyelinating, 4 |
|
Choreoathetosis, Seizure, Flexion contracture, Apnea |
OMIM:612233 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Ataxia, Apnea, Central hypoventilation, Optic atrophy, Dysmetria, Seizure, Respiratory failure, D... |
OMIM:618233 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Chorea, Low plasma citrulline, Ragged-red muscle fibers, Gait ataxia, Hyperventilation, He... |
ORPHA:255210 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Delayed eruption of primary teeth, Flexion contracture, Widely spaced prim... |
ORPHA:90322 |
Solitary Bone Cyst |
|
Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone cyst, Patho... |
ORPHA:83468 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Ataxia, Elevated circulating creatine kinase concentration, Cachexia, De... |
ORPHA:1933 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Apneic episodes precipitated by illness, fat... |
OMIM:312170 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Tachycardia, Apnea, Episodic tachypnea, Bilateral tonic-clonic seizure, Seizur... |
ORPHA:79264 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, An... |
OMIM:608013 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... |
OMIM:600081 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth |
ORPHA:457365 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Osteopenia, Elevated alkaline phosphatase of bone origin |
OMIM:615923 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Enamel hypoplasia, Osteoporosis |
OMIM:612462 |
Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Ivory epiphyses of the distal ph... |
OMIM:190350 |
Dysplasia Epiphysealis Hemimelica |
|
Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Accele... |
ORPHA:1822 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Accessory oral frenulum, Flexion contracture, Osteolysis involving bones of the upper limbs, Oste... |
ORPHA:88630 |
Qazi-Markouizos Syndrome |
|
High, narrow palate, Hypoplasia of teeth, Delayed ossification of carpal bones, Open mouth, Broad... |
ORPHA:3010 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Glos... |
ORPHA:93346 |
Marbach-Rustad Progeroid Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Eruption failure, ... |
OMIM:619322 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Cerebral hemo... |
OMIM:619897 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Bicoronal synostosis, Dental crowding, Joint stiffness, Tracheobronchomalacia, Pierre-Robin seque... |
OMIM:619184 |
Gamma-Heavy Chain Disease |
|
Neoplasm of the tongue, Rheumatoid arthritis, Osteolysis, Abnormal palate morphology |
ORPHA:100026 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Elevated circulating alkaline phosphatase con... |
OMIM:620366 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... |
ORPHA:99147 |
Maffucci Syndrome |
|
Recurrent fractures, Osteolysis |
ORPHA:163634 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Bilateral tonic-clonic seizure, Epistaxis, Intracranial hemorrhage, Hyperten... |
ORPHA:369929 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormality of the dentition, Flexion contracture, Limitation of joint mobility, Osteolysis, High... |
ORPHA:90153 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... |
ORPHA:289157 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Intramuscular hematoma, ... |
OMIM:227500 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum |
ORPHA:3214 |
Classic Hodgkin Lymphoma |
|
Osteolysis |
ORPHA:391 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Carious teeth, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79409 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Flexion contracture, Long philtrum |
ORPHA:263463 |
Codas Syndrome |
|
Delayed eruption of teeth, Joint hyperflexibility, Abnormal dental morphology, Abnormal dental en... |
ORPHA:1458 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Arthrogryposis multiplex congenita, Enamel hypoplasia, Oral mucosal blisters |
OMIM:226730 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
OMIM:157980 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Taurodontia, High palate, Widely spaced teeth, Enamel hypoplasia |
OMIM:618205 |
Felty Syndrome |
|
Sinusitis, Limitation of joint mobility, Osteolysis, Synovitis, Arthritis |
ORPHA:47612 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Sub... |
ORPHA:2780 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc... |
ORPHA:2788 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Apnea, Small for gestational age, Diarrhea, Peritonitis, Leukocytosis, Blood... |
ORPHA:391673 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Absent oss... |
OMIM:166210 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal bleeding, Inguinal hernia, Congenital hip dislocation, Ataxia, Generalized-onset seizure... |
ORPHA:357058 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Autoimmune thrombocytopenia, Abnormal ery... |
ORPHA:324636 |
Pontocerebellar Hypoplasia, Type 16 |
|
Skeletal muscle atrophy, Apnea, Optic atrophy, Seizure, Dysphagia, Limb hypertonia |
OMIM:619527 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... |
ORPHA:83469 |
Cerebral Cavernous Malformations 2 |
|
Cerebral hemorrhage, Telangiectasia, Seizure, Stroke, Cerebral cavernous malformation |
OMIM:603284 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Apnea, Elevated circulating creatine kinase concentration, Coxa vara, Hi... |
ORPHA:800 |
Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea, Facial palsy, Proximal placement of thumb, Hip dislocation,... |
OMIM:314580 |
Oculoskeletodental Syndrome |
|
Abnormality of the dentition, Oligodontia, Microdontia, Enamel hypoplasia, Retrognathia |
ORPHA:557003 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Osteopenia, Bone cyst, Seizure, Myoclonus, Pathologic fracture |
OMIM:618193 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Unilateral cleft palate, Craniosynostosis, Abnormality of the dentition, H... |
ORPHA:1299 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Abno... |
ORPHA:2314 |
Alg6-Cdg |
|
Ataxia, Jaundice, Decreased LDL cholesterol concentration, Shortening of all distal phalanges of ... |
ORPHA:79320 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Cerebral hemorrhage, Stroke, Myoclonus, Dysphagia |
ORPHA:324708 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Joint contracture of the 5th finger, Camptodactyly of finger |
ORPHA:1883 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Osteopenia, Inguinal hernia, Short femur, Hyperparathyroidism, Metaphyseal ... |
OMIM:618188 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Recurrent fractures |
OMIM:620368 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myelofibrosis, Angina pectoris, Epistaxis, Portal hype... |
ORPHA:729 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Recurrent fractures, Dyspnea, Splenomegaly, Tachypnea, P... |
OMIM:239200 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Central apnea, Ataxia, Malabsorption, Joint stiffness, Abnormal mese... |
ORPHA:3463 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Skeletal muscle atrophy, Apnea, Flexion contracture, Ragged-red muscle fibe... |
ORPHA:17 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Eosinophilia, Dyspnea, Leukocytosis, Thrombocytopenia, Weight loss, Anemia |
ORPHA:517 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, R... |
ORPHA:1452 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Prolonged bleeding following procedure, Hypoglycemic seizures, Inflammation of the la... |
ORPHA:79259 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Hepatomegaly, Abnormal thumb morphology, Patent ductus arteriosus, Diarrhe... |
ORPHA:1842 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Grange Syndrome |
|
Aortic regurgitation, Syndactyly, Patent ductus arteriosus, Arterial stenosis, Increased suscepti... |
ORPHA:79094 |
Juvenile Paget Disease |
|
Bowing of the long bones, Recurrent fractures, Cranial hyperostosis, Optic atrophy, Osteoporosis,... |
ORPHA:2801 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Apnea, Bradycardia, Respiratory failure |
OMIM:616277 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Aganglionic megacolon, Cachexia, Tapered finger, Seizure, Hypocalcemia |
ORPHA:1438 |
Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Cerebral hemorrhage, Patent ductus arteriosus, Seizure, Stroke, Short finger, Clinoda... |
OMIM:300049 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
Acute Promyelocytic Leukemia |
|
Bone pain, Leukopenia, Neutropenia, Ecchymosis, Abnormal bleeding, Leukocytosis, Lymphadenopathy,... |
ORPHA:520 |
Rhabdoid Tumor |
|
Hypercalcemia, Thrombocytopenia, Respiratory insufficiency, Weight loss, Lymphadenopathy, Hyperte... |
ORPHA:69077 |
Pulmonary Arteriovenous Malformation |
|
Liver abscess, Myocardial infarction, Iron deficiency anemia, Gastrointestinal infarctions, Cough... |
ORPHA:2038 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Micrognathia, Gingival overgrowth, Decreased calvarial ossification, Cor... |
ORPHA:313855 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyse... |
OMIM:112250 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Osteopenia, Apnea, Metaphyseal widening, Flexion contracture, Knee flexion ... |
ORPHA:3206 |
Pachyonychia Congenita |
|
Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia |
ORPHA:2309 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Oral-pharyngeal dysphagia, Chorea, Gastrointestinal dysmotility, Cho... |
ORPHA:2131 |
Biotinidase Deficiency |
|
Hepatomegaly, Apnea, Ataxia, Splenomegaly, Diarrhea, Tachypnea, Optic atrophy, Hyperammonemia, Se... |
OMIM:253260 |
Gracile Bone Dysplasia |
|
Asplenia, Flared metaphysis, Decreased skull ossification, Slender long bone, Seizure, Hypocalcem... |
OMIM:602361 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Osteopenia, Decreased muscle mass, Congenital hip dislocation, Arachnodacty... |
OMIM:271225 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth |
OMIM:609638 |
Takayasu Arteritis |
|
Myocardial infarction, Vascular dilatation, Vasculitis, Arterial stenosis, Weight loss, Anemia, H... |
ORPHA:3287 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Wide anterior fontanel, Failure to thrive, Apnea, Seizure |
OMIM:614883 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Dysphagia, Weight loss, Increased susceptibility to fractures, Seizure, Aspira... |
ORPHA:216866 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru... |
OMIM:612921 |
Presynaptic Congenital Myasthenic Syndromes |
|
Joint laxity, Congenital hip dislocation, Ataxia, Sudden episodic apnea, Intermittent episodes of... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Joint laxity, Congenital hip dislocation, Ataxia, Sudden episodic apnea, Intermittent episodes of... |
ORPHA:590 |
Mycetoma |
|
Prominent superficial veins, Osteomyelitis, Abnormality of the lymphatic system, Bone cyst, Osteo... |
ORPHA:2583 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand |
OMIM:608257 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Abnormal circulatin... |
OMIM:241530 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Clubbing, Intraalveolar phospholipid ac... |
OMIM:265120 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Seizure, Arteriovenous malform... |
ORPHA:624 |
Moynahan Syndrome |
|
Seizure, Cachexia |
ORPHA:2574 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Cerebral hemorrhage, Nausea, Congestive heart failure, Cranial nerve compression, ... |
ORPHA:94080 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Rickets of the lower limbs |
ORPHA:882 |
Dural Sinus Malformation |
|
Papilledema, Somatic sensory dysfunction, Ataxia, Cerebral hemorrhage, Subarachnoid hemorrhage, C... |
ORPHA:97339 |
Trisomy 9P |
|
Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth |
ORPHA:236 |
Congenital Myopathy 11 |
|
Neonatal respiratory distress, Patent ductus arteriosus, Apneic episodes in infancy, Abnormal cir... |
OMIM:619967 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Apnea, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Optic atro... |
ORPHA:395 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia |
OMIM:614381 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Elevated circulating deoxyuridine concentration, Gastroparesis, Intestinal p... |
OMIM:603041 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Apnea, Thrombocytopenia, Splenomegaly, Dysphagia, Stridor, Anemia, Seizure, Gastroe... |
OMIM:230900 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Osteolytic defects of the pha... |
ORPHA:2484 |
Immunoerythromyeloid Hypoplasia |
|
Absent leukocyte alkaline phosphatase |
OMIM:242880 |
Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Apnea, Central hypoventilation, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Sm... |
OMIM:620167 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Intracranial hemorrhage, Vomiting, Cough, Ecchymosis, Nausea, Internal hemo... |
ORPHA:340 |
Sudden Infant Death Syndrome |
|
Apneic episodes in infancy |
OMIM:272120 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated creatine kinase after exercise, Sudden cardiac death, Elevated circulating acylcarnitine... |
ORPHA:99901 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Cryptorchidism, Osteoporosis, Obesi... |
ORPHA:3409 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Erythrodontia, Jaundice, Osteolysis, Pathologic fracture, Joint contracture of the hand |
OMIM:263700 |
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 |
Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Abnormal bone ossifica... |
ORPHA:2563 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
Abeta Amyloidosis, Italian Type |
|
Seizure, Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... |
OMIM:257850 |
Diencephalic Syndrome |
|
Optic atrophy, Cachexia, Decreased body weight |
ORPHA:1672 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology |
ORPHA:3353 |
Acquired Purpura Fulminans |
|
Shock, Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Prolonged ... |
ORPHA:49566 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Carious teeth, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79410 |
Hyperekplexia 3 |
|
Apnea, Bilateral tonic-clonic seizure, Hiatus hernia, Syncope, Gastroesophageal reflux, Myoclonus... |
OMIM:614618 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Osteopenia, Recurrent fractures, Delayed skeletal maturation, 2-3 toe syndactyly, Seizure, Joint ... |
ORPHA:2324 |
Neutrophilia, Hereditary |
|
Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
Paget Disease Of Bone 6 |
|
Elevated circulating alkaline phosphatase concentration, Osteoarthritis, Recurrent fractures |
OMIM:616833 |
Tarp Syndrome |
|
Meckel diverticulum, Failure to thrive, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of ... |
OMIM:311900 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Small for gestational age, Rocker bottom foot, Calcaneovalgus deformi... |
ORPHA:3078 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Inguinal hernia, Ataxia, Apnea, Portal hypertension, Congenital hepatic fibrosis, P... |
ORPHA:1454 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Vomiting, Cough |
ORPHA:137935 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Persistence of primary teeth |
OMIM:619769 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
Tenorio Syndrome |
|
Osteopenia, Joint laxity, Apnea, Raynaud phenomenon, Recurrent pneumonia, Macroglossia, Seizure, ... |
OMIM:616260 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Rocker bottom foot, Seizure, Dysphagia, Hypoplastic spleen, Adducted thumb |
ORPHA:89844 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the pa... |
ORPHA:2552 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hyp... |
OMIM:170390 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Internal hem... |
ORPHA:335 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Dental crowding, Sagittal craniosynostosis, Micrognathia, ... |
OMIM:145420 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Intestinal obstruction, Respiratory insufficiency, Weight loss, L... |
ORPHA:26790 |
H Syndrome |
|
Hallux valgus, Hypertriglyceridemia, Lipodystrophy, Recurrent fractures, Malabsorption, Microcyti... |
ORPHA:168569 |
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 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Increased bone mineral density, Ataxia, Splenomegaly, Delayed skeleta... |
ORPHA:77261 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Thrombocytopenia, Patent ductus arteriosus, Diarrhea, Elevated circulating creatini... |
OMIM:608104 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Oligodontia, Hypodontia |
ORPHA:447896 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79303 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Skeletal muscle atrophy, Cerebral hemorrhage, Nemaline bodies, Abnormality ... |
OMIM:620278 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Elevated circulating alkaline phosphatase concentration, Paget disease of bone |
OMIM:615422 |
Chromomycosis |
|
Ankylosis, Osteolysis, Abnormal oral cavity morphology |
ORPHA:182 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... |
OMIM:263400 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Osteoporosis, Micrognathia |
ORPHA:73272 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Increased connective tissue, Multiple prenatal fractures, ... |
ORPHA:171430 |
Congenital Tracheomalacia |
|
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... |
ORPHA:95430 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormal tibia morphology, Flexion contracture, Bone pain, Abnormal femur morphology,... |
ORPHA:666 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Apnea, Central hypoventilation, Chronic constipation, Respiratory failure, Episodic hypertension,... |
OMIM:619483 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy, Chori... |
OMIM:277175 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Cerebral hemorrhage, Focal motor seizure, Seizure, Stroke |
ORPHA:542310 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Bicoronal synostosis, Diastema, Agenesis of molar, Supernumerary tooth, Osteoporosis,... |
OMIM:619718 |
Cerebral Cavernous Malformations 3 |
|
Seizure, Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Joint laxity, Thin upper lip vermilion, Exaggerated cupid's bow, Flexion contracture, Dental malo... |
OMIM:619293 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Decreased... |
OMIM:616829 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Ankle flexion contracture, Micrognathia |
OMIM:617802 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Vomiting, Cough, Ataxia, Portal hypertension, Abnormal mesentery morp... |
ORPHA:284 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia |
OMIM:618107 |
Gaucher Disease |
|
Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Bone pain, Che... |
ORPHA:355 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Epiphysea... |
ORPHA:950 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Diar... |
OMIM:607765 |
Myasthenic Syndrome, Congenital, 16 |
|
High palate, Apnea |
OMIM:614198 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Abnormal lef... |
ORPHA:99827 |
Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Osteolysis, Synovitis, Enthesiti... |
ORPHA:793 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Narrow mouth, Enamel hypoplasia, Flexion contracture, Oral mucosal blisters |
OMIM:226600 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Elevated circulating ... |
OMIM:300845 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Brain abscess, Bowel incontinence, Congestive heart failure,... |
OMIM:616482 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Carious teeth, Microdontia, Hypodontia, Conical tooth |
OMIM:620192 |
X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Cac... |
ORPHA:85293 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Recurrent fractures, Venous insufficiency, Congestive heart failure, Reduced bone mineral density... |
ORPHA:137608 |
Developmental And Epileptic Encephalopathy 90 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Apneic episodes in infancy, Constipation, Fo... |
OMIM:301058 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth... |
ORPHA:2980 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Elevated circulating alkaline phosphatase concentration, Osteoporosis |
ORPHA:529665 |
Usher Syndrome Type 2 |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:231178 |
Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Hypoventilation, Hepatomegaly, Apnea, ... |
ORPHA:79330 |
Joubert Syndrome 9 |
|
Seizure, Hepatic fibrosis, Apnea, Episodic tachypnea |
OMIM:612285 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Elbow flexion cont... |
OMIM:259450 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Dental crowding, Micrognathia, Flexion contracture, Hypoplasia of teeth, Progressive clavicular a... |
OMIM:608612 |
Fatal Familial Insomnia |
|
Apnea, Ataxia, Weight loss, Constipation, Abnormal autonomic nervous system physiology, Myoclonus... |
OMIM:600072 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Carious teeth... |
ORPHA:2769 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hepatic fibrosis, Ecchymosis, Papilledema, Bilateral tonic-clonic seiz... |
ORPHA:2072 |
Xp21 Deletion Syndrome |
|
Joint laxity, Decreased muscle mass, Hypertriglyceridemia, Elevated circulating creatine kinase c... |
ORPHA:261476 |
Joubert Syndrome 30 |
|
Seizure, Postaxial hand polydactyly, Tachypnea, Apnea |
OMIM:617622 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Limitation of joint mobility, Cardio... |
ORPHA:79327 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at... |
ORPHA:1876 |
Marshall-Smith Syndrome |
|
Apnea, Large sternal ossification centers, Accelerated skeletal maturation, Bilateral cryptorchid... |
OMIM:602535 |
Scarf Syndrome |
|
Craniosynostosis, Joint hyperflexibility, Long philtrum, Enamel hypoplasia, Hypocalcification of ... |
ORPHA:3134 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Prolonged prothrombin ti... |
OMIM:277450 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... |
ORPHA:79106 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Tracheobronc... |
OMIM:610253 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Calcinosis, Telangiectas... |
ORPHA:2909 |
Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Flexion contracture, Atrioventricular block, Reduced bone mineral density, Aspiratio... |
ORPHA:581 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Elevated circulating C-reac... |
ORPHA:1302 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Cherry red spot of the macula, Abnormal blee... |
ORPHA:77293 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Joint laxity, Carious teeth, Cle... |
OMIM:607812 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Diarrhea, Hyperlipidemia, Vomiting, Protein-losing enteropathy, Hypoalbuminemia,... |
OMIM:615863 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Inguinal hernia, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, A... |
ORPHA:2462 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Overlapping toe, Apnea, Flexion contracture, Elbow flexion contrac... |
OMIM:617301 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Recurrent fractures, Micrognathia, Absent frontal sinuses, Open bite, Abnormality of ... |
ORPHA:955 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Tracheoesophageal fistula, St... |
ORPHA:142 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eosinophilia, Eosinophilic infiltration of the esophagus, Subarachnoid hemor... |
OMIM:243700 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Recurrent fractures, Increased circulating gonadotropin level, Delayed skeletal maturation, Osteo... |
ORPHA:2410 |
Mccune-Albright Syndrome |
|
Accelerated skeletal maturation, Bone pain, Abnormal femur morphology, Gastroesophageal reflux, A... |
ORPHA:562 |
Lowry-Maclean Syndrome |
|
Osteopenia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, nar... |
ORPHA:2409 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Increased serum beta-hexosaminidase, Metaphyseal widening, Hepatomegaly, Split hand, ... |
OMIM:252500 |
Systemic Sclerosis |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Gas... |
ORPHA:90291 |
Mcdonough Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia |
ORPHA:2471 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Cranial nerve compress... |
ORPHA:652 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Carious teeth, Cortical thickening of long bone diaphyses, Decreased skull ossification, Calvaria... |
ORPHA:93324 |
Leishmaniasis |
|
Abnormal bleeding, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, ... |
ORPHA:507 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Small for gestational age, Decreased fibular diameter,... |
OMIM:616897 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Osteomyelitis le... |
OMIM:256810 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Apnea, Respiratory insufficiency, Seizure, Joint contracture, Myoclonus, Hypertrophic cardiomyopathy |
OMIM:614462 |
Ohdo Syndrome |
|
Joint laxity, Micrognathia, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Narr... |
OMIM:249620 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2... |
OMIM:612394 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Autoim... |
OMIM:614162 |
Osteopathia Striata With Cranial Sclerosis |
|
Apnea, Osteopathia striata, Craniofacial osteosclerosis, Gastroesophageal reflux, High palate, Cl... |
OMIM:300373 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Metaphyseal widening, Flexion contracture, Abnormal fing... |
ORPHA:536471 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... |
OMIM:300554 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Mala... |
ORPHA:47 |
Rapp-Hodgkin Syndrome |
|
Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal insufficiency, Small, c... |
OMIM:129400 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Apnea, Optic nerve hypoplasia, Joint stiffness, Flexion cont... |
OMIM:609069 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Generalized-onset seizure, Apnea, Rocker bottom foot, Postaxial polydactyly, Long fingers, Optic ... |
OMIM:617527 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Increased susceptibility to fractures, Recurrent fractures, Femoral bowing |
OMIM:615066 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Absent trapezium, Pulp calcification, Microdontia, Distal foot symphalangism, Distal symphalangis... |
OMIM:606895 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Macroglossia, Elevated circulating alkaline phosphatase concentration, Tented upper lip vermilion... |
OMIM:616025 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Portal vein thrombosis, Pulmonary embolism |
ORPHA:82 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Increased bone mineral density, Micrognathia, Protruding tong... |
OMIM:259775 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, High, narrow palate, Abnormal left ventricular function, Abno... |
ORPHA:91387 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, E... |
ORPHA:289176 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Optic disc pallor, Hepatomegaly, Skeletal muscle atrophy, Ataxia, Apnea, Optic neuropathy, Bilate... |
OMIM:252010 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Micrognathia, Knee flexion contracture, Elevated circulating alkalin... |
OMIM:156400 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph... |
ORPHA:2494 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Hypoventilation, Skeletal muscle atrophy, Apnea, Facial palsy, Stridor, Dysphagia, Arthrogryposis... |
OMIM:617143 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Abnormal bleeding, Hepatomegaly, Villous atrophy, Diarrhea, Vomiting, Protein-losing enteropathy,... |
OMIM:602579 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Epileptic spasm, Apnea, Bilateral tonic-clonic seizure wit... |
ORPHA:314655 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Apnea, Elevated circulating growth hormone concentration, Large for gestational age, Multiple pan... |
ORPHA:79644 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Carious teeth, Premature loss of teeth, Oral leukoplakia |
OMIM:616353 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Delayed eruption of teeth, Hip contracture, Interphalangeal joint contracture of fing... |
OMIM:259600 |
Poems Syndrome |
|
Sclerosis of hand bone, Papilledema, Lipodystrophy, Thrombocytosis, Sclerosis of foot bone, Metap... |
ORPHA:2905 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Osteopenia, Multiple joint contractures, Metaphyseal widening, High palate,... |
ORPHA:536467 |
Parkes Weber Syndrome |
|
Abnormal femoral metaphysis morphology, Cerebral arteriovenous malformation, Spinal arteriovenous... |
ORPHA:90307 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Malabsorption, Diarrhea, Weight loss, Leukopenia, Failure to thrive, ... |
ORPHA:33355 |
Arthrogryposis, Distal, Type 2A |
|
Knee flexion contracture, High palate, Hernia, Spina bifida occulta, Wrist flexion contracture, N... |
OMIM:193700 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... |
ORPHA:96263 |
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:616917 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... |
ORPHA:470 |
Rin2 Syndrome |
|
Cryptorchidism, Aortic aneurysm, Increased susceptibility to fractures, High palate, Umbilical he... |
ORPHA:217335 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Apnea, Rocker bottom foot, Long fingers, Postaxial hand ... |
ORPHA:521426 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorrhage, Thrombocytopenia, Patent ... |
OMIM:617397 |
Chime Syndrome |
|
Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Osteolysis, Cleft ... |
ORPHA:3474 |
Familial Thrombocytosis |
|
Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegal... |
ORPHA:71493 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Hypomethioninemia, Pulmonary embolism, Megaloblastic anemia, Hyperhomocysti... |
ORPHA:79282 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Micrognathia, Carious teeth, Trismus, Elbow flexion contracture, High palate, Narrow mouth, Retro... |
OMIM:272430 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Stiff interphalangeal joints, Hepatomegaly, Portal hypertension, Osteoporo... |
ORPHA:465508 |
Joubert Syndrome 7 |
|
Central apnea, Ataxia, Episodic tachypnea, Postaxial polydactyly, Postaxial hand polydactyly, Tac... |
OMIM:611560 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
Seckel Syndrome 1 |
|
Dental crowding, Selective tooth agenesis, Micrognathia, Dental malocclusion, Elbow flexion contr... |
OMIM:210600 |
Beaulieu-Boycott-Innes Syndrome |
|
Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Micrognathia |
OMIM:613680 |
Silver-Russell Syndrome |
|
Decreased muscle mass, Sandal gap, Failure to thrive in infancy, Cachexia, Cryptorchidism, Delaye... |
ORPHA:813 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Episodic tachypnea, Seizure, Apneic episodes in infancy, Dysphagia, Meckel diverticulum |
ORPHA:163961 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Prolonged bleeding time, Inguinal hernia, Femoral hernia, Abnormality of subcutaneous... |
ORPHA:1901 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Apnea, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Cardiorespiratory arrest, Strido... |
OMIM:608800 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Apnea, Acute hepatic steatosis, Seizure, Vomiting, Failure to thrive |
OMIM:210200 |
Hepatoerythropoietic Porphyria |
|
Osteopenia, Abnormal circulating enzyme concentration or activity, Erythrodontia, Osteoporosis, O... |
ORPHA:95159 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Pain insensitivity, Osteomyelitis, Small for gestational age, Rocker bottom foot, Bilateral tonic... |
ORPHA:453510 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea... |
OMIM:620300 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Diaphragmatic eventration, Spinal muscular atrophy, Multiple prena... |
OMIM:616866 |
Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Osteopenia, Joint laxity, Abnormal circulating enzyme concentration or act... |
ORPHA:309282 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Vomiting, Protein-losin... |
ORPHA:79319 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Hepatomegaly, Tachycardia, Intermittent hyperventilation, Episodic tachypne... |
ORPHA:348 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Chorea, Upper-limb joint contracture, Lower-limb joint... |
ORPHA:300605 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Tarp Syndrome |
|
Finger syndactyly, Failure to thrive, Extramedullary hematopoiesis, Apnea, Rocker bottom foot, Po... |
ORPHA:2886 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw |
ORPHA:199276 |
Dpagt1-Cdg |
|
Prolonged QT interval, Hepatomegaly, Epileptic spasm, Lipodystrophy, Ataxia, Arachnodactyly, Gene... |
ORPHA:86309 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C... |
ORPHA:1164 |
Bruck Syndrome 2 |
|
Osteopenia, Inguinal hernia, Flexion contracture, Elbow flexion contracture, Femoral bowing, Knee... |
OMIM:609220 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Ataxia, Celiac disease, Diarrhea, Osteoporosis, Rickets, Weight loss, Iron def... |
OMIM:212750 |
Superficial Siderosis |
|
Abnormal bleeding, Ataxia, Lower limb muscle weakness, Subarachnoid hemorrhage, Impaired temperat... |
ORPHA:247245 |
Joubert Syndrome 23 |
|
Tachypnea, Polydactyly, Apnea |
OMIM:616490 |
Glass Syndrome |
|
Inguinal hernia, Apnea, Arachnodactyly, Anterior tibial bowing, Bilateral tonic-clonic seizure, F... |
OMIM:612313 |
Gm1 Gangliosidosis |
|
Gastroesophageal reflux, Aspiration pneumonia, Cherry red spot of the macula, Ataxia, Bilateral t... |
ORPHA:354 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Elevated creatine kinase after exercise, Sudden episodic apnea, Elevated circulatin... |
ORPHA:159 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Cryptorchidism, Delayed ske... |
OMIM:618440 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Intestinal perforation, Vomiting, Gastroesophageal reflu... |
ORPHA:85450 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Impaired distal proprioception, Impaired pro... |
ORPHA:14 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Epileptic spasm, Ataxia, Apnea, Bilateral tonic-clonic seizure, Protruding tongue, Tonic seizure,... |
OMIM:619580 |
Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Osteoporosis, Respiratory insuffi... |
ORPHA:2771 |
Campomelic Dysplasia |
|
Respiratory distress, Apnea, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hy... |
OMIM:114290 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Bone pain... |
ORPHA:29073 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Tachypnea, Reduced bone mineral density, Vomiting, Gastroesophageal reflux, High pala... |
OMIM:613658 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... |
ORPHA:53719 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Prader-Willi Syndrome |
|
Osteopenia, Gastroparesis, Decreased response to growth hormone stimulation test, Impaired temper... |
ORPHA:739 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Pulmonary embolism, Malabsorption, Diarrhea, Clubbing, Iron... |
OMIM:226300 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Vomiting, High palate, Neutropenia, Short phala... |
ORPHA:221016 |
Immunodeficiency 49 |
|
Natal tooth, Short philtrum, Micrognathia |
OMIM:617237 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Apnea, Hyperkalemia, Seizure, Vomiting |
OMIM:240200 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, F... |
OMIM:610921 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, L... |
OMIM:610682 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Prolonged bleeding time, Bowing of the long bones, Osteopenia, Small for gesta... |
OMIM:616229 |
Coach Syndrome 2 |
|
Congenital hepatic fibrosis, Elevated circulating creatinine concentration, Hypertension, Apneic ... |
OMIM:619111 |
Hyperekplexia 1 |
|
Inguinal hernia, Apnea, Hip dislocation, Aspiration, Seizure, Myoclonus, Umbilical hernia, Noctur... |
OMIM:149400 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Dorsocervical fat pad, Hyperlipidemia, Pituitary adenoma, Osteoporosis, Increased body weight, Pr... |
ORPHA:189427 |
Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Osteoporosis, Corneal scarring, Cleft palate, Increased susceptibi... |
ORPHA:90354 |
Trichothiodystrophy 3, Photosensitive |
|
Carious teeth, Natal tooth, Eclabion |
OMIM:616395 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... |
ORPHA:96264 |
Genitopatellar Syndrome |
|
Hip contracture, Apnea, Hypoplastic ilia, Cryptorchidism, Patellar aplasia, Knee flexion contract... |
ORPHA:85201 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Wheezing, Recurrent tonsillitis, Hyper... |
ORPHA:171876 |
Mohr-Tranebjaerg Syndrome |
|
Increased susceptibility to fractures, Intrinsic hand muscle atrophy, Dysphagia |
OMIM:304700 |
Greenberg Dysplasia |
|
Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomelia, Hypoplasi... |
OMIM:215140 |
Orofaciodigital Syndrome Type 6 |
|
Mesoaxial polydactyly, Syndactyly, Failure to thrive, Ataxia, Apnea, Episodic tachypnea, Hamartom... |
ORPHA:2754 |
Pfapa Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Weight loss, Lymphadenopathy, Arthritis |
ORPHA:42642 |
Hamamy Syndrome |
|
Osteopenia, Thin upper lip vermilion, Recurrent fractures, Craniosynostosis, Micrognathia, Dental... |
OMIM:611174 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Hypercalcemia, ... |
ORPHA:97289 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Pain insensitivity, Abnormal dental enamel morphology, Craniosynostosis, Hypercalcemia, Recurrent... |
ORPHA:251004 |
Infantile Neuroaxonal Dystrophy |
|
Ataxia, Flexion contracture, Optic atrophy, Seizure, Apneic episodes in infancy, Constipation, Ab... |
ORPHA:35069 |
Joubert Syndrome |
|
Aganglionic megacolon, Ataxia, Apnea, Episodic tachypnea, Seizure, Hand polydactyly, Foot polydac... |
ORPHA:475 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Leukocytosis, Thromb... |
ORPHA:90060 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Camptod... |
ORPHA:464 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to... |
OMIM:259410 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Intestinal polyposis, Apnea, Rhabdomyosarcoma, Osteolysis, Cleft palate, Co... |
ORPHA:1052 |
Fanconi Renotubular Syndrome 1 |
|
Elevated circulating alkaline phosphatase concentration, Rickets, Osteomalacia |
OMIM:134600 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Mediastinal lymphadenopathy, Clubb... |
ORPHA:79128 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, High palate, Abno... |
ORPHA:93315 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Recurrent fractures, Limitation of joint mobility, Slender long bone, Ab... |
ORPHA:1486 |
Recon Progeroid Syndrome |
|
Joint laxity, Prominence of the premaxilla, Dental crowding, Delayed eruption of permanent teeth,... |
OMIM:620370 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Megaloblastic anemia, Intraventricular hemorrhage, Cleft palate, Hyperhomocyst... |
ORPHA:79284 |
Biotinidase Deficiency |
|
Respiratory distress, Ataxia, Apnea, Optic neuropathy, Bilateral tonic-clonic seizure, Infantile ... |
ORPHA:79241 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis, Elevate... |
OMIM:239000 |
Tuberculosis |
|
Weight loss, Cough |
ORPHA:3389 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Pathologi... |
OMIM:112200 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Nausea |
ORPHA:403 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Elevated alkaline phosphatase of bone origin, Scleros... |
ORPHA:85188 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Dental crowding, Micrognathia, Joint stiffness, Flexion contracture, Elbow flexion co... |
OMIM:248370 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Increased bone mineral density, Diaphyseal sclerosis, Increased bone d... |
ORPHA:94089 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo... |
ORPHA:1110 |
Bilateral Perisylvian Polymicrogyria |
|
Ectopic posterior pituitary, Apnea, Infantile spasms, Protruding tongue, Weakness of facial muscu... |
ORPHA:98889 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Dyspnea, Mediastinal lymphadenopathy, Abnormality on pulmonar... |
ORPHA:133 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Liver abscess, Lung abscess, Congestive heart failure, Diarrhea, Dyspnea,... |
ORPHA:67 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... |
ORPHA:2929 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Dilated cardiomyopath... |
ORPHA:280679 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating alkaline phosphatase concentration, Jaundice, Elevated circulating alanine a... |
OMIM:619658 |
Osteoglophonic Dysplasia |
|
Respiratory distress, Osteopenia, Short metatarsal, High palate, Short palm, Short phalanx of fin... |
OMIM:166250 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... |
ORPHA:1071 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Crackles, Elevated circulating C-reactive protein conc... |
ORPHA:2902 |
Acute Liver Failure |
|
Hepatic necrosis, Hepatocellular necrosis, Intracranial hemorrhage, Vomiting, Nausea, Hyperventil... |
ORPHA:90062 |
Bohring-Opitz Syndrome |
|
Apnea, Facial hypotonia, Limitation of joint mobility, Bilateral wrist flexion contracture, Optic... |
ORPHA:97297 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Nonproductive cough, Odynophagia, Bloody diar... |
ORPHA:99826 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension, Hyp... |
ORPHA:251274 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Diarrhea, Chronic pulmonary obstruction, Pneumothorax, B... |
ORPHA:411703 |
Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Hypodontia, Furrowed tongue |
ORPHA:140936 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Intestinal pseudo-obstruction, Impaired distal proprioception, Ragged-re... |
OMIM:607459 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Di... |
ORPHA:103910 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Osteomyelitis, Cerebral hemorrhage, Hepatosplenomegaly, Panniculitis, B lymphocytopenia, Neutropenia |
OMIM:301081 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Cle... |
OMIM:239300 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Ataxia, Pneumonia, Elevated circulating... |
ORPHA:420741 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Xerostom... |
ORPHA:85443 |
Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth |
OMIM:180920 |
Achondrogenesis Type 1A |
|
Femoral hernia, Recurrent fractures, Abnormal enchondral ossification, Short foot, Short palm, Um... |
ORPHA:93299 |
Joubert Syndrome With Oculorenal Defect |
|
Aganglionic megacolon, Ataxia, Apnea, Tachypnea, Seizure, Hand polydactyly, Foot polydactyly |
ORPHA:2318 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Thick vermilion border, Everted lower lip vermilion, High palate, Shor... |
OMIM:615866 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Ataxia, Abnormal atrioventricular conducti... |
ORPHA:3208 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Neonatal respiratory distress, Apnea, Limited hip extension, Flexion contracture, Re... |
OMIM:614653 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Apnea, Low plasma citrulline, Optic atrophy, Seizure, Increased hepatic echogenicit... |
OMIM:261680 |
Acrocraniofacial Dysostosis |
|
Craniosynostosis, Micrognathia, Cleft palate, Short philtrum, Advanced eruption of teeth |
ORPHA:949 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal acetabulum morphology, Apnea, Postaxial polydactyly, Supernumerary nipple, Proximal femo... |
ORPHA:397715 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Apnea, Dysmetria, Gait ataxia, Seizure, High palate, Focal impaired awareness seizure, Clinodacty... |
OMIM:618056 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t... |
ORPHA:192 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Osteopenia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased respo... |
ORPHA:811 |
8P Inverted Duplication/Deletion Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of dental eruption, Wide mouth, Contractures of th... |
ORPHA:96092 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Nausea |
ORPHA:404 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... |
OMIM:300048 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Apnea, Dyspnea, Seizure, Hyperventilation |
OMIM:229700 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Apnea, Diarrhea, Cardiorespiratory arrest, Choreoathetosis, Athetosis, Constipation,... |
OMIM:608643 |
Familial Dysautonomia |
|
Abnormal peritoneum morphology, Hyponatremia, Orthostatic hypotension, Tachycardia, Ataxia, Recur... |
ORPHA:1764 |
Joubert Syndrome With Renal Defect |
|
Aganglionic megacolon, Apnea, Ataxia, Cleft palate, Seizure, Hand polydactyly, Abnormal pattern o... |
ORPHA:220497 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Ataxia, Apnea, Small for gestational age, Bilateral tonic-clonic seizure, Gastrointestinal dysmot... |
OMIM:617799 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Chorea, Knee osteoarthritis... |
ORPHA:1304 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Pontocerebellar Hypoplasia, Type 7 |
|
Skeletal muscle atrophy, Apnea, Ataxia, Cryptorchidism, Optic atrophy, Choreoathetosis, Seizure, ... |
OMIM:614969 |
Ogden Syndrome |
|
Congenital hip dislocation, Apnea, Generalized-onset seizure, Microvesicular hepatic steatosis, V... |
OMIM:300855 |
Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Apnea, Bradycardia |
OMIM:208155 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Peripheral arteriovenous fist... |
ORPHA:90308 |
Fibronectin Glomerulopathy |
|
Hypertension, Hypoalbuminemia, Cerebral hemorrhage |
ORPHA:84090 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Paresthesia, Palpitations, Abnorma... |
ORPHA:231625 |
Mixed Connective Tissue Disease |
|
Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Avascular necrosis, Prolonged bleeding... |
ORPHA:809 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Apnea, Bilateral tonic-clonic seizure, Splenomegaly, Neutropenia, Focal myoclonic s... |
OMIM:617050 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Natal tooth, Cleft palate |
ORPHA:158687 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Abnormal dental enamel morphology, Abnormality of the dentition, ... |
ORPHA:1798 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Hyponatremia, Neonatal respiratory distress, Apnea, Ataxia, Bilateral tonic... |
OMIM:618426 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Protein-losing enteropathy, Neutropenia, Chronic... |
OMIM:613502 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Central apnea, Skeletal muscle atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochok... |
OMIM:615157 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed eruption of primary teeth, Micrognathia, Absent frontal s... |
OMIM:119600 |
Short Syndrome |
|
Delayed eruption of teeth, Joint laxity, Micrognathia, Dental malocclusion, Downturned corners of... |
OMIM:269880 |
3M Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Joint hyperflexibility, Everted low... |
ORPHA:2616 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Weight loss |
ORPHA:79238 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Myelofibrosis, Intestinal obstruction, Generalized lym... |
ORPHA:160 |
Dent Disease 1 |
|
Bulging epiphyses, Thin bony cortex, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay... |
OMIM:300009 |
Ramon Syndrome |
|
Delayed eruption of teeth, Juvenile rheumatoid arthritis, Gingival fibromatosis, Narrow palate |
OMIM:266270 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Oligodontia, Hypodontia, Enamel hypoplasia |
OMIM:607626 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... |
OMIM:613217 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Congenital contracture, Progressive gait ataxia, Retinal arteriolar cons... |
ORPHA:191 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Failure to thrive, Long fingers, Diarrhea, Flexion contracture, Optic atrophy, S... |
OMIM:601110 |
Chylomicron Retention Disease |
|
Impaired vibratory sensation, Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes... |
OMIM:246700 |
Zygomycosis |
|
Fasciitis, Sinusitis, Abnormal cranial nerve morphology, Acute infectious pneumonia, Unusual gast... |
ORPHA:73263 |
Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Ataxia, Apnea, Cleft palate, Seizure, Hand polydactyly, Foot polydactyly, ... |
ORPHA:220493 |
Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Joint hyperflexibility, Everted l... |
ORPHA:2067 |
Andersen-Tawil Syndrome |
|
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathi... |
ORPHA:37553 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Rocker bottom foot, Thromb... |
ORPHA:163979 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage, Nausea, Congestive heart failu... |
ORPHA:276621 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Elevated alkaline phosphatase of bone origin, Osteomalacia, Reduced bone mineral density, Hypopho... |
ORPHA:157215 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Chronic d... |
ORPHA:90362 |
Craniosynostosis 2 |
|
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Bicoronal synost... |
OMIM:604757 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Small hand, Short foot, Seizure, Abnormal autonomic nervous system physiology, Hyperventil... |
OMIM:617903 |
Proteus Syndrome |
|
Decreased muscle mass, Pulmonary embolism, Neoplasm of the thymus, Abnormal finger morphology, Cl... |
ORPHA:744 |
Johanson-Blizzard Syndrome |
|
Microdontia, Oligodontia, Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:2315 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Dupuytren contracture, Acute hepatitis, Limited elbow movement, Tr... |
ORPHA:39812 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Inflammation of the large intes... |
OMIM:614700 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Hig... |
ORPHA:740 |
Pachydermoperiostosis |
|
Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, Abnormal cortic... |
ORPHA:2796 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... |
ORPHA:545 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Low alkaline phosphatase, Ankle flexion contracture |
OMIM:619985 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Decreased skull ossification, Calvarial osteosclerosis |
OMIM:244460 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Exaggerated cupid's bow, Camptodactyly of finger, Narrow mouth, Abnormal mandible morphology, Cle... |
ORPHA:2215 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Apnea |
OMIM:616896 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Seizure, Apneic episodes in infancy, Generalized amyotrophy |
OMIM:610006 |
Marfan Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Limited elbow movement, High, narrow palate, Emphysema, Arac... |
ORPHA:558 |
Otopalatodigital Syndrome, Type I |
|
Selective tooth agenesis, Absent frontal sinuses, Capitate-hamate fusion, Limited knee flexion, C... |
OMIM:311300 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis |
OMIM:259730 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Rickets |
OMIM:616026 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Precocious atherosclerosis, Abnormal tibia morphology, Abnormal finger morphology, Ab... |
ORPHA:909 |
Unilateral Polymicrogyria |
|
Apnea, Epistaxis, Pulmonary arteriovenous malformation, Infantile spasms, Focal-onset seizure, Se... |
ORPHA:268943 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Rectal prolapse, Cutaneous finger syndactyly, Protein-losing enteropathy, Hypoalbuminemia, Short ... |
OMIM:235510 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Advanced eruption of teeth |
ORPHA:2348 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Patent ductus arteriosus, Jaundice, Neutropenia, Hypopnea, Seizure, Respiratory failure, B... |
OMIM:617248 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Wide mouth |
ORPHA:1231 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Decreased testicular size, Broad hallux, Cryptorchidism, Generalized joint laxity, Sm... |
ORPHA:251028 |
Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Increased hema... |
ORPHA:284227 |
Slc39A8-Cdg |
|
Osteopenia, Sudden episodic apnea, Failure to thrive in infancy, Craniosynostosis, Abnormal blood... |
ORPHA:468699 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy, Weight loss |
ORPHA:86893 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Paget disease of bone, Elevated alkaline phosphatase of bone origin |
OMIM:167320 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Vertebral hyperostosis, T... |
OMIM:164200 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Inguinal hernia, Recurrent fractures, Arterial rupture, Reduced bone mineral density, Bruising su... |
OMIM:619115 |
Cog8-Cdg |
|
Skeletal muscle atrophy, Ataxia, Spontaneous hematomas, Prolonged prothrombin time, Seizure, Prot... |
ORPHA:95428 |
Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp... |
ORPHA:131 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Metaphyseal widening, Flexion contracture, Delayed proximal femoral epiphyseal ossification, High... |
OMIM:271640 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Micrognathia, Cleft l... |
OMIM:619148 |
Kleefstra Syndrome Due To A Point Mutation |
|
Tracheomalacia, Natal tooth, Thick lower lip vermilion, Abnormality of the dentition |
ORPHA:261652 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Seizure, Bone cyst, Pathologic fracture, Myoclonus |
OMIM:221770 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... |
OMIM:619381 |
Hypermobile Ehlers-Danlos Syndrome |
|
Apnea, Venous insufficiency, Gastrointestinal dysmotility, Anorectal anomaly, Osteoarthritis, Gas... |
ORPHA:285 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Myocardial infarction, Gastroesophageal reflux, Cough, Vasculitis, Respirato... |
ORPHA:183 |
Occipital Horn Syndrome |
|
Osteopenia, Venous insufficiency, High, narrow palate, Coxa vara, Humerus varus, Gastroesophageal... |
ORPHA:198 |
Neurological Conditions Associated With Aminoacylase 1 Deficiency |
|
Seizure, Vomiting, Apnea |
ORPHA:137754 |
Diarrhea 12, With Microvillus Atrophy |
|
Osteopenia, Villous atrophy, Microvillus inclusions, Secretory diarrhea, Bronchiectasis, Vomiting... |
OMIM:619445 |
Myeloproliferative Disease, Autosomal Recessive |
|
Reduced leukocyte alkaline phosphatase |
OMIM:254700 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Apnea, Decreased response ... |
OMIM:619503 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Wide mouth, Enamel hypoplasia, Bifid uvula, Abnormality of the dentition |
OMIM:615802 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Recurrent fractur... |
ORPHA:2785 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Thin upper lip vermilion, Elevated circulating alkaline phosphatase concentration, Tented upper l... |
OMIM:615716 |
Joubert Syndrome 21 |
|
Apnea, Ataxia, Dyspnea, Splenomegaly, Optic atrophy, Megalopapilla, Seizure, Respiratory failure,... |
OMIM:615636 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Congenital diaphragmatic hernia, Accelerated skeletal maturation, Shoulder dislocatio... |
OMIM:245600 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Apnea, Gastroesophageal reflux, Aspiration pneumonia, Joint laxity, Hypoventilation, ... |
ORPHA:438213 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Nause... |
ORPHA:244242 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating a... |
ORPHA:2088 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, ... |
OMIM:243150 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Neonatal epiphyseal ... |
OMIM:101800 |
Seckel Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Cachexia, Craniosynostosis, Delayed skeletal matur... |
ORPHA:808 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Pain insensitivity, Telangiectasia of the skin, ... |
ORPHA:679 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper... |
ORPHA:819 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Elevated ... |
OMIM:614576 |
Kabuki Syndrome 2 |
|
Joint laxity, Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, High p... |
OMIM:300867 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal dental morphology, Camptodactyly of finger, Abnormality of th... |
ORPHA:568 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Cachexia, Supernumerary nipple, Cr... |
ORPHA:217346 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Hypocholesterolemia, Acanthocytosis, Increased hepatocellular lipid droplet... |
ORPHA:71 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Persistence of primary teeth, Carious teeth, Cortical thickening of long bone diaphyses, Decrease... |
ORPHA:93325 |
Scarf Syndrome |
|
Coronal craniosynostosis, Enamel hypoplasia, Lambdoidal craniosynostosis, Long philtrum |
OMIM:312830 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Short palm, Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea, Brachydactyly |
ORPHA:3217 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Impaired vibratory sensation, Pain insensitivity, Osteomyelitis, Recurrent fractures, Impaired pa... |
OMIM:608654 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Foot joint contracture, Delayed eruption of primary teeth, Abnormality of ... |
ORPHA:90321 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Cachexia |
ORPHA:1389 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Malabsorption, ... |
ORPHA:440437 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central apnea, Osteopenia, Gastroparesis, Small for gestational age, Decreased response to growth... |
ORPHA:98754 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Multiple joint contractures, Dental crowding, Micrognathia,... |
ORPHA:96170 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hepatomegaly, Hypoventilation, Recurrent fractures, Optic atrophy, Seizure, High palate, Overlapp... |
OMIM:606056 |
Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis, Parest... |
ORPHA:3165 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Osteoarthritis, Vomiting, Hypoalbuminemia, Hep... |
OMIM:277900 |
Bone Marrow Failure Syndrome 3 |
|
Micrognathia, Oral ulcer, Reduced bone mineral density, Downturned corners of mouth, Hypodontia, ... |
OMIM:617052 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:174050 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Upper limb muscle weakness, ... |
ORPHA:494424 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Diarrhea, Weight loss, Decreased intestinal transit time, High palate, Failu... |
OMIM:620045 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn... |
ORPHA:321 |
Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Intracranial hemorrhage, Seizure, Incre... |
ORPHA:447788 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Intraventricular h... |
OMIM:619055 |
Camurati-Engelmann Disease |
|
Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Corti... |
OMIM:131300 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central apnea, Osteopenia, Gastroparesis, Small for gestational age, Decreased response to growth... |
ORPHA:98793 |
Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Eosinophilia, Left ventricular diastolic dysfunction, Congest... |
ORPHA:75566 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Joubert Syndrome 14 |
|
Ataxia, Postaxial polydactyly, Optic atrophy, Cleft palate, Intracranial hemorrhage, Hypertension |
OMIM:614424 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Joint hypermobility, Carious teeth, Widely spaced teeth, Yellow-brown ... |
OMIM:619229 |
Myotonia, Potassium-Aggravated |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Stridor, Skeletal mu... |
OMIM:608390 |
Cystinosis |
|
Portal hypertension, Malabsorption, Rickets, Myopathy, Hypokalemia, Vomiting, Hypophosphatemia, F... |
ORPHA:213 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Thick lower lip vermilion, Flexion contracture, Macroglossia, Widely s... |
OMIM:309900 |
Lynch Syndrome |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Pancreatic adenocarcinoma, Neoplasm of the pan... |
ORPHA:144 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Flexion contracture, Cleft palate, Increased susceptibility to fractures, Amyop... |
OMIM:312150 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abnormality of the tes... |
ORPHA:400 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Clubbing, Bronchiectasis, Wheezing, ... |
ORPHA:79127 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Osteomalacia, Respiratory insufficiency due to muscle weakness, Diarrhea, Ricke... |
ORPHA:18 |
Trisomy 18 |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Esophageal atres... |
ORPHA:3380 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central apnea, Osteopenia, Gastroparesis, Small for gestational age, Decreased response to growth... |
ORPHA:177904 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Abnormality of the dentition, Micrognathia, Eruption failure, High palate, Long ... |
ORPHA:476126 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Seizure, Purpura |
OMIM:612304 |
Knobloch Syndrome 2 |
|
Enamel hypoplasia, Micrognathia |
OMIM:618458 |
Xfe Progeroid Syndrome |
|
Cachexia, Absence of subcutaneous fat, Optic atrophy, Corneal scarring, Hypertension, Hypoalbumin... |
OMIM:610965 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central apnea, Osteopenia, Gastroparesis, Small for gestational age, Decreased response to growth... |
ORPHA:177901 |
Emanuel Syndrome |
|
Broad jaw, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Cleft palate, High p... |
OMIM:609029 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Diarrhea, Splenomegaly, In... |
OMIM:601847 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Chronic noninfectious lymphadenopathy, Right ve... |
ORPHA:97287 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Villous atrophy, Generalized-onset seizure, Flexion contracture, Dysmetria, Vomiting,... |
OMIM:212065 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short phi... |
ORPHA:521445 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Calf muscle pseudohypertrophy, Ataxia, Elevated circulating creatin... |
ORPHA:96180 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Macrocytic anemia, Hypoparathyroidism, ... |
ORPHA:199299 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Prolonged QRS complex, Apnea, Left axis deviation, Congestive heart failure... |
OMIM:261740 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's... |
ORPHA:261494 |
Carpenter Syndrome 1 |
|
Sagittal craniosynostosis, Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia,... |
OMIM:201000 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Cryptorchidism, Decreased calvarial ossification, Recurrent fractures, Joint hyperflexibility |
ORPHA:2772 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... |
OMIM:611590 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Abnormal long bone morphology, Telangiectases of the cheeks, Limited sh... |
ORPHA:576 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... |
ORPHA:103907 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Orofaciodigital Syndrome Xvi |
|
Inguinal hernia, Apnea, Ataxia, Hamartoma of tongue, Postaxial hand polydactyly, Postaxial foot p... |
OMIM:617563 |
Chronic Bilirubin Encephalopathy |
|
Central apnea, Hemolytic anemia, Abnormal auditory evoked potentials, Seizure, Hypoalbuminemia, P... |
ORPHA:529808 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Recurrent fractures, Micrognathia, Abnormality of the dentition, High, narrow palate... |
ORPHA:2108 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Inguin... |
ORPHA:90349 |
Acute Bilirubin Encephalopathy |
|
Central apnea, Hemolytic anemia, Abnormal auditory evoked potentials, Seizure, Hypoalbuminemia, P... |
ORPHA:529799 |
Familial Adenomatous Polyposis 1 |
|
Eruption failure, Supernumerary tooth, Carious teeth, Odontoma |
OMIM:175100 |
Giant Cell Arteritis |
|
Glossitis, Pericarditis, Ataxia, Epistaxis, Sudden cardiac death, Joint stiffness, Cough, Mediast... |
ORPHA:397 |
Keppen-Lubinsky Syndrome |
|
Decreased testicular size, Failure to thrive, Lipodystrophy, Dyspnea, Flexion contracture, Recurr... |
ORPHA:435628 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Ataxia, Diarrhea, Osteoporosis, Rickets, Vomiting, Myoclonus, Failure to thrive |
OMIM:560000 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Chronic diarrhea, Decreased in... |
OMIM:615237 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Villous atrophy, Medial calcification of large arteries, T lymphocytopenia, Autoimmun... |
ORPHA:391487 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Seizure, Fetal intraventricular hemorrhage, High palate, Constipation, Clinodactyly of the 5th fi... |
OMIM:618480 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Telangiectasia of the skin, Recurren... |
ORPHA:1775 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Myocardial infarction, Bowel incontinence, Congestive heart failure, ... |
ORPHA:330001 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph... |
OMIM:209885 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Congenital hip dislocation, Arachnodactyly,... |
ORPHA:536545 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Ataxia, Tachypnea, Hyperammonemia, Weight loss, Seizure, Thrombocytopenia |
ORPHA:79242 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Flexion contracture of finger, Recurrent fractures, Micrognathia, Hypo... |
OMIM:601812 |
Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Right ventricular failure, Dyspnea, Mediastinal lymphadenopathy, Lym... |
ORPHA:199241 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cervical C5/C6 verte... |
ORPHA:87 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, R... |
ORPHA:140 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Carious teeth, Dental malocclusion |
OMIM:615560 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Venous insufficiency, Abn... |
ORPHA:33276 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Joint stiffness, Congestive heart failure, Osteoarthritis, Hypertension, Hype... |
ORPHA:1345 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration |
OMIM:214900 |
Whim Syndrome |
|
Abnormal small intestine morphology, Lymphopenia, Sinusitis, Pneumonia, Lymphadenitis, Recurrent ... |
ORPHA:51636 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Anal stenosis, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Cachexia, ... |
ORPHA:647 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Bone cyst, Osteolysis |
ORPHA:2396 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Chronic diarrhea, I... |
OMIM:304790 |
Hirschsprung Disease |
|
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy... |
ORPHA:388 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Overlapping toe, Intestinal malrotation, Cerebral hemorrhage, Hiatus hernia, Cryptorchidism, Pate... |
OMIM:616682 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Sudden episodic apnea, Bilateral cryptorchidism, Neuromuscular dysphagia, Seizure, Hip dysplasia,... |
ORPHA:466722 |
Adamantinoma |
|
Pathologic fracture, Bone pain, Hypercalcemia |
ORPHA:55881 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, High, narrow palate, Generali... |
OMIM:619472 |
Joubert Syndrome 1 |
|
Central apnea, Optic disc pallor, Hemifacial spasm, Ataxia, Episodic tachypnea, Protruding tongue... |
OMIM:213300 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ataxia, Diarrhea, Tachypnea, Leukocytosis, Hyperammonemia, Weight loss, Hypertensio... |
ORPHA:134 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Limited elbow movement, Sagittal craniosynostos... |
OMIM:101200 |
Lathosterolosis |
|
Toe syndactyly, Foam cells with lamellar inclusion bodies, Bilobate gallbladder, Increased mean p... |
OMIM:607330 |
Kcnq2-Related Epileptic Encephalopathy |
|
Seizure, Epileptic spasm, Apnea, Generalized tonic seizure |
ORPHA:439218 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Flexion contracture, Cleft palate, Increased susceptibility to fractures, Amyop... |
OMIM:253290 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Femoral bowing,... |
OMIM:617952 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... |
OMIM:211380 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... |
ORPHA:100082 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage, Nausea, Congestive heart failu... |
ORPHA:29072 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... |
ORPHA:100080 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Increased bone mineral density, Protruding tongue, Micrognathia, Long philtrum, Mala... |
ORPHA:50945 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Femoral b... |
OMIM:231070 |
Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Inflammation of the large intestine, Cough, Emphysema, Abnormal sali... |
OMIM:181000 |
Grange Syndrome |
|
Syndactyly, Recurrent fractures, Carotid artery stenosis, Renovascular hypertension, Increased su... |
OMIM:602531 |
Fryns-Smeets-Thiry Syndrome |
|
Arachnodactyly, Cachexia, Patellar aplasia, Hip dislocation, Joint hyperflexibility |
ORPHA:2058 |
Sotos Syndrome |
|
Mandibular prognathia, Joint laxity, High, narrow palate, Narrow jaw, Narrow palate, High palate,... |
OMIM:117550 |
Fanconi-Bickel Syndrome |
|
Elevated circulating aspartate aminotransferase concentration, Osteomalacia, Intrahepatic cholest... |
OMIM:227810 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Micrognathia, Dental malocclusion, Localized hypoplasia of dental ename... |
ORPHA:73223 |
Juvenile Dermatomyositis |
|
Bundle branch block, Myositis, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:93672 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Pericarditis, Hepatomegaly, Acute pancreatitis, Portal hypertension, Optic atro... |
OMIM:619487 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Dyspnea, Mediastinal lymphadenopathy, Weight loss, Cough, Abnormal vena c... |
ORPHA:99868 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Aganglionic megacolon, Decreased heart rate variability, Apnea, Central hypovent... |
OMIM:209880 |
Juvenile Huntington Disease |
|
Ataxia, Chorea, Weight loss, Gait ataxia, Progressive cerebellar ataxia, Seizure, Myoclonus |
ORPHA:248111 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... |
ORPHA:699 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Osteoporosis... |
OMIM:268400 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Diarrhea, Leukocytosis, Cardiorespiratory arrest, Weight loss, Pleural... |
ORPHA:188 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, De... |
OMIM:234100 |
Peripheral Primitive Neuroectodermal Tumor |
|
Abnormal bleeding, Neoplasm of the pancreas, Somatic sensory dysfunction, Torticollis, Elevated c... |
ORPHA:370348 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Recurrent pneumo... |
OMIM:609465 |
Kilquist Syndrome |
|
Mandibular prognathia, Wide mouth, Hypoplasia of teeth |
OMIM:619080 |
Joubert Syndrome 3 |
|
Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608629 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Ataxia, Infantile spasms, Chorea, Subdural hemorrhage, Retinal hemorrhage, Athetosis, Seizure, Dy... |
ORPHA:25 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Apnea, Hypercapnia, Respiratory insufficiency, Seizure, Apneic episodes... |
OMIM:618222 |
Osteogenesis Imperfecta, Type Vi |
|
Joint laxity, Protrusio acetabuli, Coxa vara, Increased susceptibility to fractures |
OMIM:613982 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia |
OMIM:612287 |
Amyotrophic Lateral Sclerosis 20 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615426 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
Chikungunya |
|
Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Arthritis, Gingival bleeding, St... |
ORPHA:324625 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Arachnodactyly, Protrusio acetabuli, Abnormal dental enamel morphology, ... |
ORPHA:828 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Thoracic aortic aneurysm, Elevated circulating C-reactive protein concent... |
ORPHA:449400 |
Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Coxa valga, Bowing of the legs, Osteoporosis, Coxa vara, Bowing of the arm, ... |
OMIM:619131 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Seizure, Craniosynostosis, Moyamoya phenomenon |
ORPHA:401986 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79403 |
Joubert Syndrome 2 |
|
Central apnea, Ataxia, Episodic tachypnea, Postaxial hand polydactyly, Optic disc coloboma, Posta... |
OMIM:608091 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Paroxysmal atrial fibrillation, Elevated circulating creatine kinase concen... |
OMIM:164310 |
Nail-Patella Syndrome |
|
Contracture of the distal interphalangeal joint of the fingers, Achilles tendon contracture, Flex... |
ORPHA:2614 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Flexion contracture, Subd... |
ORPHA:90324 |
Dermatitis Herpetiformis |
|
Microcytic anemia, Bone pain, Recurrent fractures, Malabsorption |
ORPHA:1656 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat... |
ORPHA:289 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Chronic pancreatitis, Cryptor... |
OMIM:307030 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Craniopharyngioma |
|
Papilledema, Enlarged pituitary gland, Myocardial infarction, Neoplasm of the anterior pituitary,... |
ORPHA:54595 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... |
OMIM:177850 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... |
OMIM:274000 |
Semilobar Holoprosencephaly |
|
Central apnea, Failure to thrive, Decreased response to growth hormone stimulation test, Flexion ... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Failure to thrive, Decreased response to growth hormone stimulation test, Flexion ... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Failure to thrive, Decreased response to growth hormone stimulation test, Flexion ... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Failure to thrive, Decreased response to growth hormone stimulation test, Flexion ... |
ORPHA:93924 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug... |
ORPHA:723 |
Geroderma Osteodysplastica |
|
Recurrent fractures, Osteoporosis, Hip dislocation, Joint hyperflexibility, Abnormal epiphysis mo... |
ORPHA:2078 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft palate, Camptodactyly, J... |
OMIM:247200 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Craniosynostosis, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Mal... |
OMIM:123790 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Inguinal hernia, Decreased muscle mass, Craniosynostosis, Tapered finger, Dyse... |
ORPHA:2953 |
Neu-Laxova Syndrome |
|
Osteopenia, Abnormality of the philtrum, Osteomalacia, Micrognathia, Trismus, Submucous cleft har... |
ORPHA:2671 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa... |
OMIM:300990 |
Corneodermatoosseous Syndrome |
|
Carious teeth, Abnormal dental enamel morphology, Gingivitis |
ORPHA:3194 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Pericarditis, Viral hepat... |
ORPHA:91139 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic a... |
ORPHA:35858 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Ataxia, Retroperitoneal fibrosis, Congestive heart... |
ORPHA:35687 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Abnormal intestin... |
OMIM:619079 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Increased susceptibility to fractures, Osteoporosis, Hypophosphatemia |
OMIM:612286 |
Congenital Left Ventricular Aneurysm |
|
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal T-wave, Arrhythmia |
ORPHA:1055 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Recurrent fractures, Abnormal toe morphology, Abnormal finger morphology, Coarctation... |
OMIM:163200 |
Scedosporiosis |
|
Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Arthralgia/arthritis, Osteomyelitis, ... |
ORPHA:449280 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Block vertebrae, Tarsal synostosis, Capitate-hamate fusion, Cleft palate, Carpa... |
OMIM:272460 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulating alkaline phosphatas... |
OMIM:619484 |
Developmental And Epileptic Encephalopathy 80 |
|
Tented upper lip vermilion, Protruding tongue, Micrognathia, Wide mouth, Elevated circulating alk... |
OMIM:618580 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Hypoalbuminemia,... |
ORPHA:171 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Microdontia, Enamel hypoplasia, Retrognathia, Limited elbow extension |
OMIM:210720 |
Caroli Disease |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Vomiting, Hepatic fibrosis, Nausea, He... |
ORPHA:53035 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Joint laxity, Micrognathia, Abnor... |
OMIM:151050 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, Oligoarthritis, T lymphocytopeni... |
OMIM:619510 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu... |
OMIM:311200 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Multi... |
OMIM:601186 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Camptodac... |
ORPHA:2136 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Erythrodontia, Osteoporosis, Osteolysis |
ORPHA:79277 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Long toe, Osteopenia, Bowing of the long bones, Joint laxity, Arachnodactyly, Phalangeal dislocat... |
OMIM:130070 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Lipoatrophy, Congestive heart failure, Emphysema, Intracranial hemorrhage, ... |
ORPHA:363618 |
Attrv30M Amyloidosis |
|
Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Constipation, Abnormal autonomic n... |
ORPHA:85447 |
Acute Transverse Myelitis |
|
Impaired vibratory sensation, Orthostatic hypotension, Somatic sensory dysfunction, Gastroparesis... |
ORPHA:139417 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Renal hypophosphatemia, Osteomalacia, El... |
ORPHA:1652 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth |
OMIM:300952 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Dysesthesia, Cranial nerve compression, Odynophagia, Jaw claudication,... |
ORPHA:221098 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Small intestinal dysmotility, Sinus bradycardia, Hypopnea, Chronic consti... |
OMIM:619482 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f... |
ORPHA:100075 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Elbow contracture, Knee flexion contracture, Sclerosis of skull base, Elevated circulating alkali... |
OMIM:618162 |
Huntington Disease-Like 2 |
|
Chorea, Weight loss |
ORPHA:98934 |
Mccune-Albright Syndrome |
|
Intestinal polyposis, Craniofacial hyperostosis, Hyperparathyroidism, Elevated circulating growth... |
OMIM:174800 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Cleft lip, Hypoplastic facial bones, Cleft p... |
OMIM:616300 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Right ventricular fail... |
ORPHA:100078 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Juvenile rheumatoid arthritis, Dental malocclusion, Arthritis |
ORPHA:1855 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Rheumatoid Arthritis |
|
Swan neck-like deformities of the fingers, Elevated circulating C-reactive protein concentration,... |
OMIM:180300 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ... |
ORPHA:83 |
Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Osteopenia, Abnormal trabecular bone morphology, Abnormal dental ename... |
ORPHA:221008 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Left unicoronal synostosis, Elevated circulating alkaline phosphatase concentration, Tented upper... |
OMIM:614749 |
Q Fever |
|
Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis... |
ORPHA:781 |
Specific Granule Deficiency 1 |
|
Low neutrophil alkaline phosphatase |
OMIM:245480 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Bruising susceptibility, Recurrent fractures, Arterial rupture, Joint hypermobility |
OMIM:619120 |
Isolated Biliary Atresia |
|
Hepatomegaly, Hypopituitarism, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaun... |
ORPHA:30391 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Limb joint contracture, Flexion contracture, Alveolar ridge overgrowth... |
OMIM:301072 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Joint laxity, Progressive flexion contractures, Ataxia, Equinus calcaneus, Chorea,... |
ORPHA:522077 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Abnorma... |
ORPHA:70591 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Joint hyperflexib... |
ORPHA:77301 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Elevated circulating alkaline phosphatase concentration, Elevated hepat... |
ORPHA:263455 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Avascular necrosis, Ataxia, Vasculitis, Lymp... |
ORPHA:117 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Bone cyst, Flexion contracture, Osteolysis, Abnormal palate morphology |
ORPHA:3042 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Rickets, Osteomalacia |
OMIM:613388 |
Boudin-Mortier Syndrome |
|
Joint laxity, Malar flattening, Elevated alkaline phosphatase of bone origin |
OMIM:619543 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Microdontia, Carious teeth, Oral leukoplakia, Osteoporosis |
OMIM:224230 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, Postaxial h... |
OMIM:235255 |
Pulmonary Alveolar Microlithiasis |
|
Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxygen desaturati... |
ORPHA:60025 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Tented upper lip vermilion, Exaggerated cupid's bow, Craniosynostosis, Micrognathia, ... |
ORPHA:369837 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline ... |
OMIM:235555 |
Thymoma |
|
Myositis, Aplastic anemia, Pure red cell aplasia, Dyspnea, Imbalanced hemoglobin synthesis, Ulcer... |
ORPHA:99867 |
Meningioma |
|
Reduced circulating prolactin concentration, Neoplasm of the anterior pituitary, Upper limb muscl... |
ORPHA:2495 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic f... |
OMIM:613489 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... |
OMIM:171420 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hemolytic an... |
OMIM:615846 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Bicarbonaturia, Osteomalacia, Cryptorchidism,... |
OMIM:309000 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Elevated circulating aspartate aminotransferase concentration, Micrognathia, Wide anterior fontan... |
OMIM:614866 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Chorea, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Neonatal death, Neonatal respiratory distress, Esophageal atresia, Patent ductus arteri... |
OMIM:265380 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Recurrent fractures, Reduced circulating prolactin concentration, Delayed skeletal maturation, Os... |
ORPHA:2235 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia... |
ORPHA:210122 |
Codas Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Generalized joint laxity, Delayed ossification of c... |
OMIM:600373 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Gastroesophageal reflux, Hyponatremia, Abnormal dental enamel... |
ORPHA:534 |
Faciocardiomelic Syndrome |
|
Osteopenia, Micrognathia, Dental malocclusion, Wide mouth, Long philtrum, Thin bony cortex, Hyper... |
OMIM:612731 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Decreased muscle mass, Recurrent fractures, Long fingers... |
OMIM:309583 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Elevated circulating alkaline phosphatase concentration |
OMIM:615424 |
Complete Atrioventricular Septal Defect |
|
Crackles, Tachypnea, Atrioventricular block, Abnormal EKG, Hepatomegaly, Intercostal retractions,... |
ORPHA:1329 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Enamel hypoplasia |
OMIM:240300 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Delayed eruption of teeth, Hyperextensibility of the finger joints, Gingiv... |
OMIM:135500 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Seizure |
ORPHA:2481 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... |
ORPHA:731 |
Inhalational Anthrax |
|
Respiratory distress, Abnormal sweat gland morphology, Dyspnea, Focal autonomic seizure with epig... |
ORPHA:247257 |
Lead Poisoning |
|
Delayed eruption of teeth, Cranial hyperostosis |
ORPHA:330015 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Joint laxity, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... |
OMIM:617093 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... |
ORPHA:913 |
Spastic Paraplegia Type 2 |
|
Ataxia, Bowel incontinence, Pulmonary embolism, Limitation of joint mobility, Optic atrophy |
ORPHA:99015 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Prolonged prothrombin... |
OMIM:214950 |
Arachnoid Cyst |
|
Facial palsy, Subarachnoid hemorrhage, Cranial nerve compression, Distal sensory impairment, Seiz... |
ORPHA:2356 |
Medulloblastoma |
|
Ataxia, Cerebellar hemorrhage, Adenomatous colonic polyposis, Dysmetria, Progressive cerebellar a... |
ORPHA:616 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic sei... |
OMIM:614231 |
Developmental And Epileptic Encephalopathy 95 |
|
Joint laxity, Multiple joint contractures, Deep philtrum, Gingival overgrowth, Low alkaline phosp... |
OMIM:618143 |
Myotonia Fluctuans |
|
Stridor, Apnea, Spasticity of facial muscles |
ORPHA:99734 |
Kallmann Syndrome |
|
Ataxia, Recurrent fractures, Cryptorchidism, Delayed skeletal maturation, Obesity, Cleft palate, ... |
ORPHA:478 |
Fanconi Renotubular Syndrome 3 |
|
Rickets |
OMIM:615605 |
Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Diarrhea, Bone pain, Horner syndrome, Weight loss, Hypertension, Myoclonus, Failure to th... |
OMIM:256700 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l... |
ORPHA:369950 |
Gapo Syndrome |
|
Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, Long philtrum, Jo... |
OMIM:230740 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Weight loss, Lymphocytosis, Hyp... |
ORPHA:514 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Micrognathia, Protruding tongue, Bilateral camptodactyly, Elbow flexi... |
OMIM:619777 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Ectopic ossification, Enamel hypoplasia, Increased bone mineral density |
ORPHA:79444 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition |
ORPHA:2036 |
Estrogen Resistance Syndrome |
|
Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Elevated tissue non-specific alkaline ... |
ORPHA:785 |
Yellow Fever |
|
Elevated circulating creatine kinase concentration, Vomiting, Nausea, Internal hemorrhage, Abnorm... |
ORPHA:99829 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Intestinal malrotation, Camptodactyly of finger, Respiratory insufficiency, Duodena... |
ORPHA:1759 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Downturned corners of mouth, Ele... |
ORPHA:247262 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Arachnodactyly, Apnea |
ORPHA:1129 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Elevated circulating aspartate aminotransferase concentration, Portal hype... |
OMIM:278000 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Increased bone mineral density, Optic neuropathy, Raynaud phenomenon, Arterial occ... |
OMIM:259900 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, High palate, Abdominal aortic an... |
OMIM:613795 |
Focal Myositis |
|
Myositis, Limitation of joint mobility, Elevated circulating creatine kinase concentration, Weigh... |
ORPHA:48918 |
Primary Hyperoxaluria |
|
Optic disc pallor, Hyperoxaluria, Recurrent fractures, Heart block, Raynaud phenomenon, Arterial ... |
ORPHA:416 |
Cirrhotic Cardiomyopathy |
|
Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Hepatomegaly, Increas... |
ORPHA:57777 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Congestive hear... |
ORPHA:3092 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Intraventricular hemorrhage, Chronic constipation, Aspiration pneumonia, Failure to t... |
OMIM:616430 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrow... |
ORPHA:769 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology, Joint stiffness, F... |
ORPHA:85408 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Elevated circulating alkaline phos... |
ORPHA:263501 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Sagittal craniosynostosis, Hyp... |
OMIM:614188 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Inguinal hernia, Intestinal malrotation, Cryptorchidism, Patent ductus ... |
OMIM:102500 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Pulmonary embolism, Chorea, Vomiting, Hypocal... |
ORPHA:94093 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Osteopenia, Narrow mouth, Generalized joint laxity, High palate, Small... |
ORPHA:2962 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Advanced eruption of teeth, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the ... |
ORPHA:280365 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Isaacs Syndrome |
|
Calf muscle hypertrophy, Weight loss, Distal sensory impairment |
ORPHA:84142 |
Neurofibromatosis Type 1 |
|
Ataxia, Recurrent fractures, Joint stiffness, Cryptorchidism, Arterial stenosis, Genu valgum, Chr... |
ORPHA:636 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Deep philtrum, High palate, Open mouth, Retrognathia |
ORPHA:1675 |
Acquired Hypertrichosis Lanuginosa |
|
Chronic diarrhea, Lymphadenopathy, Weight loss, Macroglossia, Ovarian neoplasm, Glossitis |
ORPHA:2221 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Limited elbow extension and supination, Shor... |
OMIM:180700 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Enamel hypoplasia, Smooth tongue, Craniosynostosis, Oral mucosal blisters |
ORPHA:79396 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Pancreatic lymphangiectasis, Postaxial hand polydactyly, Splenomeg... |
ORPHA:1655 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Thin upper lip vermilion, Micrognathia, Wide anterior fontanel, Downturned corners of mouth, Elev... |
OMIM:618548 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Cleft palate, Osteolytic defec... |
OMIM:309350 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Hyperglycinemia |
OMIM:619063 |
Addison Disease |
|
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Hypoparathyroidism, Primary testicular ... |
ORPHA:85138 |
Gardner Syndrome |
|
Odontoma, Multiple unerupted teeth, Supernumerary tooth, Abnormality of the dentition |
ORPHA:79665 |
Pmm2-Cdg |
|
Respiratory distress, Osteopenia, Multiple joint contractures, Intracranial hemorrhage, Vomiting,... |
ORPHA:79318 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn... |
ORPHA:275766 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Vomiting,... |
OMIM:619991 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Dental crowding, Persistence of primary teeth, Micrognathia, Dental mal... |
ORPHA:97360 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Exaggerated cupid's bow, Fused teeth, High palate, Short philtrum, Thick v... |
OMIM:300896 |
Nelson Syndrome |
|
Testicular neoplasm, Pituitary corticotropic cell adenoma, Quadriceps muscle atrophy, Adrenocorti... |
ORPHA:199244 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Cough, Vasculit... |
ORPHA:900 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl... |
ORPHA:33364 |
Cryptococcosis |
|
Osteomyelitis, Osteolysis |
ORPHA:1546 |
Grfoma |
|
Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Intermittent ... |
ORPHA:97261 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Crackles, Dyspnea, Clubbing, Intraalveolar phospholip... |
ORPHA:747 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Gingival overgrowth |
ORPHA:508542 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Generalized-onset seizure, Decreased response to growth hormone stimulation ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Generalized-onset seizure, Decreased response to growth hormone stimulation ... |
ORPHA:363958 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia, Small bowel diverticula, Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration |
OMIM:221400 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Congenital diaphragmatic hernia, Proximal placement of thumb, Tapered finge... |
ORPHA:251071 |
Huntington Disease-Like 1 |
|
Chorea, Dysmetria, Weight loss, Abnormal shoulder morphology, Gait ataxia, Seizure |
ORPHA:157941 |
Osteogenesis Imperfecta, Type Xv |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility |
OMIM:615220 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Diarrhea, Weight loss, Inflammation of the large intestine |
OMIM:191390 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Proximal placement of thumb, Large for gestational age, Prominent fing... |
OMIM:229850 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Tapered finger, Intraventricular hemorrhage, Hydrocele testis, Seizure, Co... |
OMIM:613603 |
Chronic Hiccup |
|
Abnormality of the diaphragm, Weight loss |
ORPHA:396 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Decreased serum iron, Diarrhea, Chronic... |
OMIM:614602 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Elevated circulating alkaline phosphatase concentration, Intrahepatic cholestasis, Jaundice |
OMIM:605479 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Medial calcification of large arteries, Abnormal retinal artery morphology,... |
ORPHA:51608 |
Fanconi Anemia |
|
Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of the liver, Hi... |
ORPHA:84 |
Vipoma |
|
Secretory diarrhea, Benign gastrointestinal tract tumors, Hepatomegaly, Intermittent jaundice, He... |
ORPHA:97282 |
Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Pericarditis, Elevated circulating C-reactive protein ... |
ORPHA:767 |
Somatostatinoma |
|
Hepatomegaly, Intermittent jaundice, Constipation, Neoplasm of the small intestine, Subcutaneous ... |
ORPHA:97283 |
Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:613291 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Secre... |
OMIM:619573 |
Brittle Cornea Syndrome 2 |
|
Inguinal hernia, Recurrent fractures, Umbilical hernia, Bruising susceptibility, Joint hypermobility |
OMIM:614170 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Weight loss |
ORPHA:411593 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Velopharyngeal insufficiency, Submucous c... |
OMIM:223370 |
Dextrocardia |
|
Abnormal EKG, Congenital hip dislocation, Intestinal malrotation, Abnormality of the spleen, Abno... |
ORPHA:1666 |
Cap Polyposis |
|
Atrophic gastritis, Diarrhea, Weight loss, Hematochezia, Constipation, Colorectal polyposis |
ORPHA:160148 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Respiratory distress, Sudden cardiac death, Malabsorption, Intestina... |
ORPHA:537 |
Nocardiosis |
|
Respiratory distress, Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Produ... |
ORPHA:31204 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Failure to thrive in infancy, Dec... |
OMIM:606367 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Cardiac arrest, Eosinophilia, Dyspnea, Myocarditis, Hepatitis, Weight loss, Lymphadenopathy, Inte... |
ORPHA:139402 |
Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, Heart block, Anteriorly placed anus, High palate, Dislocated radial head, 2-4... |
OMIM:617063 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Apnea, Meconium ileus, Respiratory insufficiency, Knee flexion contracture, Weakness of facial mu... |
OMIM:617239 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Increased bone mineral density, Reduced bone mineral density, Hyperost... |
ORPHA:79443 |
Ppoma |
|
Hepatomegaly, Intermittent jaundice, Constipation, Intestinal carcinoid, Neoplasm of the small in... |
ORPHA:97278 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... |
OMIM:613812 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Accelerated skeletal maturation, Testicular adrenal rest tumor, Polycystic ovaries, Intracranial ... |
ORPHA:90795 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Thick upper lip vermilion, Medi... |
OMIM:612651 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Sagittal craniosynostosis, High, narrow palate, Osteoporosis, High palate, Widely s... |
OMIM:218330 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Chorea, Weight loss, Seizure, Abnormal circulating cholesterol concent... |
ORPHA:399 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Neonatal respiratory distress, Intestinal malrotation, Congenital diaphragma... |
ORPHA:2847 |
Malignant Peritoneal Mesothelioma |
|
Dyspnea, Peritonitis, Ileus, Weight loss |
ORPHA:168811 |
Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Chronic diarrhea, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal finger morphology, Short palm, Large iliac wing, Clinodactyly of the 5th fin... |
ORPHA:2636 |
Xq12-Q13.3 Duplication Syndrome |
|
Everted lower lip vermilion, Low alkaline phosphatase |
ORPHA:314389 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Mic... |
OMIM:619525 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Diarrhea, Ulcerative colitis, Weight loss, Inflammation of the large inte... |
OMIM:266600 |
Familial Isolated Restrictive Cardiomyopathy |
|
Orthopnea, Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmi... |
ORPHA:75249 |
Alg9-Cdg |
|
Villous atrophy, Narrow greater sciatic notch, Vomiting, Gastroesophageal reflux, Abnormal bone o... |
ORPHA:79328 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Estrogen Resistance |
|
Osteopenia, Elevated alkaline phosphatase of bone origin |
OMIM:615363 |
Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Generalized lymphadenopathy, Ataxia, Ele... |
ORPHA:50918 |
Central Diabetes Insipidus |
|
Hyponatremia, Diarrhea, Weight loss, Seizure, Failure to thrive |
ORPHA:178029 |
Exudative Vitreoretinopathy 1 |
|
Vitreous hemorrhage, Recurrent fractures, Retinal neovascularization |
OMIM:133780 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating aspartate aminotransferase concentration, Portal hypertension, Jaundice, Ele... |
OMIM:619662 |
Primary Biliary Cholangitis |
|
Portal hypertension, Jaundice, Osteoporosis, Hepatitis, Elevated circulating alkaline phosphatase... |
ORPHA:186 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Elevated circulating C-reactive protein concentration, Perianal abscess, Diarr... |
OMIM:301074 |
Congenital Fiber-Type Disproportion Myopathy |
|
Congenital hip dislocation, Flexion contracture, Knee flexion contracture, High palate, Aspiratio... |
ORPHA:2020 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Sudden cardiac death, Myocardial infarction, Cough, Dyspnea, Diarrhe... |
ORPHA:36426 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Biliary atr... |
OMIM:615710 |
Glucagonoma |
|
Hepatomegaly, Acanthocytosis, Intermittent jaundice, Constipation, Subcutaneous lipoma, Elevated ... |
ORPHA:97280 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Oligodontia, Hypodontia, Conical tooth |
OMIM:308300 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Cleft palate, Decreased calvarial ossi... |
OMIM:617925 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Elevated circulating aspartate aminotransferase concentration, Cleft l... |
OMIM:280000 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Joint laxity, Thin upper lip vermilion, Vertebral fusion, Tented upper lip vermilion, Dental crow... |
OMIM:268310 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Orthostatic hypotension, Hypercalcemia, Myocardial infarction, D... |
ORPHA:95409 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatic failure, Elevated alkaline phosphatase of bone origin, Pro... |
OMIM:616828 |
Idiopathic Juvenile Osteoporosis |
|
Bone pain, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Proximal ... |
OMIM:613406 |
Trigonocephaly 1 |
|
Omphalocele, High, narrow palate, Meckel diverticulum, Craniosynostosis |
OMIM:190440 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Tibial bowing, Increased sus... |
OMIM:259770 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Peptic ulcer, Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Bone pai... |
OMIM:600740 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Aplasia/Hypoplasia of the gallbladder, Hern... |
ORPHA:264450 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Generalized joint laxity, High palate, Ecchymosis, Joint laxity, Tricuspid regurgitation, Arachno... |
OMIM:601776 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Joint stiffness, Carious teeth, Flexion contracture, Macroglossia |
OMIM:253200 |
Erythrokeratodermia Variabilis |
|
Brachydactyly, Weight loss, Abnormal testis morphology, Tapered finger |
ORPHA:317 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Delayed eruption of primary teeth, Carious teeth, Limitat... |
OMIM:216400 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Decreased muscle mass, Arachnodactyly, Recurrent fractures, Cryptorchidism, Osteoporosi... |
ORPHA:3063 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Erosion of oral mucosa, Foot joint contracture, Oral mucosal blisters, Carious teeth,... |
ORPHA:79408 |
Cornelia De Lange Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft upper lip, High, narrow ... |
OMIM:122470 |
Trichohepatoneurodevelopmental Syndrome |
|
Joint laxity, Dental crowding, Downturned corners of mouth, Macroglossia, Wide mouth, Distal arth... |
OMIM:618268 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Hepatic fibrosis, Hypoalbuminemia, Intractable diarrhea, Bifid uvula, Hepatomega... |
OMIM:222470 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Micrognathia, Pierre-Robin sequence, Flexion contracture, Gingival overgrowth, E... |
OMIM:300868 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Arteriosclerosis, Cachexia, Optic atrophy, Ataxia |
ORPHA:220295 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Patent ductus arteriosus, Limitation of joint mobility, Symphalangism af... |
ORPHA:2547 |
Syndromic Diarrhea |
|
Villous atrophy, Bloody diarrhea, Abnormality of the liver, Colitis, Hypoplasia of the thymus, He... |
ORPHA:84064 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Hypermobility of distal interphalangeal joints, Finger joint hypermobility, Hypermobility of inte... |
OMIM:130050 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Rhabdomyolysis, Weight loss, Hypokalemia, Palpitations, Goiter |
OMIM:188580 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Optic atrophy, Recurrent fractures, Rickets |
OMIM:268315 |
Nephroblastoma |
|
Hypertension, Weight loss, Lymphadenopathy, Neoplasm of the liver |
ORPHA:654 |
Coccidioidomycosis |
|
Arthritis, Osteomyelitis, Osteolysis |
ORPHA:228123 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Peptic ulcer, Hypercalcemia, Testicular neoplasm, Shortened QT interva... |
ORPHA:143 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Viral hepatitis, Abnormal circulating protein concentration, Palpable purpur... |
ORPHA:48435 |
Diarrhea 9 |
|
Diarrhea, Failure to thrive, Villous atrophy |
OMIM:618168 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Craniosynostosis, Abnormality of the dentition, Micrognathia, Submucou... |
ORPHA:235 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Osteoporosis, Ost... |
OMIM:182250 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating alpha-fetoprotein concentration, Abnormal liver sonography, Biliary tract ab... |
ORPHA:90003 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intestinal obstruction, Jaun... |
ORPHA:1333 |
Eisenmenger Syndrome |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar... |
ORPHA:97214 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Primary hyperparathyroidism, Weight loss, Lymphadenopathy, Abnormal liver parenchyma mo... |
ORPHA:1332 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Opitz Gbbb Syndrome |
|
Natal tooth, Craniosynostosis, Micrognathia, Cleft lip, Cleft palate, High palate, Hypodontia, Lo... |
ORPHA:2745 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Precocious atherosclerosis, Pulmonary embolism, Periana... |
ORPHA:444490 |
Pitt-Hopkins Syndrome |
|
Wide mouth, Thick vermilion border, Short philtrum, Failure of eruption of permanent teeth, Tooth... |
ORPHA:2896 |
Pheochromocytoma |
|
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,... |
OMIM:171300 |
Metachromatic Leukodystrophy |
|
Ataxia, Bowel incontinence, Abnormal stomach morphology, Decreased nerve conduction velocity, Abn... |
ORPHA:512 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Craniosynostosis, Micrognathia, Portal hypertension, Elevated circ... |
OMIM:620005 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Skeletal muscle atrophy, Cachexia, Short hard palate, Genu varum |
ORPHA:1969 |
Yao Syndrome |
|
Pericarditis, Asthma, Diarrhea, Xerostomia, Weight loss, Arthritis |
OMIM:617321 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Pituitary hypothyroidism, Intracranial hemorrhage, Inc... |
ORPHA:91350 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Diarrhea, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Colitis, Stea... |
ORPHA:309031 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ... |
ORPHA:309108 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Osteopenia, Joint hypermobility, Carious teeth, Hig... |
OMIM:278250 |
Hydranencephaly |
|
Stiff neck, Optic nerve hypoplasia, Abnormal internal carotid artery morphology, Dilatation of th... |
ORPHA:2177 |
Huntington Disease-Like 2 |
|
Chorea, Weight loss |
OMIM:606438 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Thick lower lip vermilion, Wid... |
ORPHA:1465 |
Perry Syndrome |
|
Central hypoventilation, Hypotension, Weight loss |
ORPHA:178509 |
Specc1L-Related Hypertelorism Syndrome |
|
Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, Advanced erup... |
ORPHA:1519 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Postaxial ha... |
OMIM:200995 |
Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Cough, Emphysema, Hemol... |
ORPHA:797 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Bicarbonaturia, Bone pain, Weight loss, Hypophosphatemia, Increased s... |
ORPHA:3337 |
Familial Adenomatous Polyposis |
|
Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Abnormal cementum ... |
ORPHA:733 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Skeletal muscle atrophy, Failure to thrive in infancy, Oral-pharyngea... |
OMIM:219800 |
Cat Eye Syndrome |
|
Meckel diverticulum, Anal stenosis, Intestinal malrotation, Rectal fistula, Absent radius, Patent... |
OMIM:115470 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber mo... |
ORPHA:79102 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets |
OMIM:612089 |
Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har... |
OMIM:300166 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Subcutaneous hem... |
ORPHA:743 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Delayed eruption of teeth, Decreased hip abduction, Limited hip extension, Camptodactyly of finge... |
OMIM:143095 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss, Menorrhagia, Constipation |
ORPHA:168816 |
Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Abnormal dental enamel morphology, Mal... |
ORPHA:79430 |
Rat-Bite Fever |
|
Pericarditis, Myocarditis, Diarrhea, Lymphadenitis, Oligoarthritis, Tendonitis, Weight loss, Anem... |
ORPHA:31205 |
Helsmoortel-Van Der Aa Syndrome |
|
Joint laxity, Thin upper lip vermilion, Carious teeth, High, narrow palate, Thick lower lip vermi... |
OMIM:615873 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Purpura, Abnormal cerebral vascular morphology, Pulmonary embolism |
ORPHA:745 |
Vascular Ehlers-Danlos Syndrome |
|
Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, High, narrow palate... |
ORPHA:286 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Osteopenia, Carious teeth, Generalized joint laxity, High palate, Smal... |
ORPHA:2834 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena... |
ORPHA:2363 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Wide mouth, Elevated circulating alkaline phosphatase concentration, Tented upper lip vermilion, ... |
OMIM:614207 |
Abeta Amyloidosis, Dutch Type |
|
Seizure, Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Mungan Syndrome |
|
Tricuspid regurgitation, Gastroparesis, Intestinal pseudo-obstruction, Barrett esophagus, Hypoper... |
OMIM:611376 |
Kindler Syndrome |
|
Carious teeth, Periodontitis, Oral leukoplakia, Gingivitis |
OMIM:173650 |
Adnp Syndrome |
|
Joint laxity, Thin upper lip vermilion, Thick lower lip vermilion, Advanced eruption of teeth, Sm... |
ORPHA:404448 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Respi... |
OMIM:608710 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Lobulated tongue, Median cleft lip and palate |
OMIM:269860 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Vulval varicose vein, Weight loss, Varicose veins, Syncope,... |
ORPHA:71273 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Osteoporosis, Osteolysis, Abnormality of the sphenoid sinus, Thickened cortex of long... |
ORPHA:97685 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Dilation of Virchow-Robin spaces, Elevated circulating creatine kinase concentr... |
OMIM:175780 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Portal hypertension, Biliary hyperplasi... |
ORPHA:567983 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal stenosis, Hypoperistalsis, Cough, Dyspnea, Esophageal neoplasm, Weight loss, Abnormal ... |
ORPHA:1018 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Joint stiffness, Cartilage destruction, Diarrh... |
ORPHA:29207 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Protract... |
OMIM:209920 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Odynophagia, Leukopenia, Erythroid hyperplasia, Hemoly... |
ORPHA:447 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Reduced C-peptide level, Weight loss, Neoplasm of the liver, Cons... |
ORPHA:2126 |
Aspartylglucosaminuria |
|
Joint laxity, Hepatomegaly, Diarrhea, Vacuolated lymphocytes, Delayed skeletal maturation, Macrog... |
OMIM:208400 |
Netherton Syndrome |
|
Villous atrophy, Allergic rhinitis, Asthma, Hypereosinophilia, Chronic rhinitis, Failure to thriv... |
OMIM:256500 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Panniculitis, Hemophagocytosis, Weight loss |
ORPHA:86884 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Accelerated skeletal maturation, Narrow greater sciatic notch, S... |
OMIM:312870 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Hepatomegaly, Small for gestational age, Refractory sidero... |
OMIM:557000 |
Mowat-Wilson Syndrome |
|
Cleft hard palate, Asplenia, Gastrointestinal dysmotility, Flexion contracture, Calcaneovalgus de... |
ORPHA:2152 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Myocardial... |
ORPHA:99889 |
Abetalipoproteinemia |
|
Abetalipoproteinemia, Fat malabsorption, Ataxia, Acanthocytosis |
OMIM:200100 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal ste... |
ORPHA:2470 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth... |
OMIM:615948 |
Cockayne Syndrome B |
|
Mandibular prognathia, Delayed eruption of primary teeth, Carious teeth, Limitation of joint mobi... |
OMIM:133540 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting, Weight loss |
ORPHA:30925 |
Restrictive Dermopathy 1 |
|
Natal tooth, Limb joint contracture, Micrognathia, Ankylosis, Submucous cleft hard palate, Tempor... |
OMIM:275210 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Hypovolemia, Weight loss, ... |
ORPHA:99885 |
Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ... |
ORPHA:221 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Optic atr... |
ORPHA:3205 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Secretory diarrhea, Hematochezia, Protein-los... |
OMIM:618183 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
Graves Disease, Susceptibility To, 1 |
|
Goiter, Congestive heart failure, Weight loss |
OMIM:275000 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Enlarged ovaries, Pneumonia, Abnormality of body weight... |
ORPHA:2298 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Cryptorchidism, Diarrhea, Hyperkalemia, Testicular adrenal rest tumor, Hypoglycemic... |
ORPHA:361 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Epileptic spasm, Infantile spasms, Focal-onset seizure, Pituitary adenoma, ... |
ORPHA:805 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hypogeusia, Low alkaline phosphatase |
OMIM:201100 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level... |
OMIM:613095 |
Restrictive Dermopathy |
|
Osteopenia, Natal tooth, Multiple joint contractures, Camptodactyly of finger, Micrognathia, Subm... |
ORPHA:1662 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Panniculitis, Weight loss |
ORPHA:33577 |
Pallister-Hall Syndrome |
|
Natal tooth, Microglossia, Cleft palate, Cleft upper lip |
OMIM:146510 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Supernumerary tooth,... |
ORPHA:818 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration |
OMIM:600803 |
Alpha-2-Plasmin Inhibitor Deficiency |
|
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax |
OMIM:262850 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Micrognathia, Abnormality of the gingiva, Wide mouth, Macroglossia, Sc... |
ORPHA:798 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Vomiting, Hypercalcemia, Weight loss |
OMIM:143880 |
Pseudoaminopterin Syndrome |
|
Sagittal craniosynostosis, Micrognathia, Limited elbow movement, Orofacial cleft, High palate, Sh... |
ORPHA:221120 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Gastroesophageal reflux, Accessory spleen, Vertebral fusion, Pseudoepiphys... |
OMIM:194190 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Bronchiectasi... |
ORPHA:99921 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Joint laxity, Delayed epiphyseal ossification, G... |
ORPHA:93357 |
Choreoacanthocytosis |
|
Impaired vibratory sensation, Hepatomegaly, Bilateral tonic-clonic seizure, Elevated circulating ... |
ORPHA:2388 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Failure to thrive, Duodenitis, Bloody diarrhea |
OMIM:614328 |
Doors Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Sagittal craniosynostosis, Abnormality of the d... |
ORPHA:79500 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thin upper lip vermilion, Natal tooth, Micrognathia, Carious teeth, Downturned co... |
OMIM:620186 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Meckel diverticulum, Abnormal stomach morphology, Ascending aorta hypoplasi... |
ORPHA:141127 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Spontaneous pneumothorax, Protein-losing enteropathy |
OMIM:618154 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Pulmonary embolism, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abn... |
ORPHA:567548 |
Rubinstein-Taybi Syndrome 1 |
|
Joint laxity, Thin upper lip vermilion, Dental crowding, Joint hypermobility, Micrognathia, Hypop... |
OMIM:180849 |
Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Weight loss, Joint hyperflexib... |
ORPHA:3163 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:49041 |
Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Respiratory arrest |
OMIM:168605 |
Oromandibular Dystonia |
|
Respiratory distress, Torticollis, Weight loss, Dysphagia |
ORPHA:93958 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Natal tooth, Dental crowding, Carious teeth, Supernumerary tooth, Talon cusp, Denta... |
ORPHA:353281 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Enlarged pituitary gland, Supraventricular arrhythmia, Elevated circulating growth ho... |
ORPHA:91347 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Flexion contracture, Anteriorly plac... |
OMIM:601803 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Tachycardia, Hypokalemia, Weight loss |
OMIM:613239 |
Down Syndrome |
|
Short palm, Joint laxity, Aganglionic megacolon, Sandal gap, Protruding tongue, Pulmonary artery ... |
OMIM:190685 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Enamel hypoplasia, Erosion of oral mucosa, Abnormal oral mucosa morphology, Osteoporosis |
ORPHA:79404 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Joint laxity, Hypoplasia of the maxilla, Abnormality of alkaline phosphatase level, Delayed ossif... |
OMIM:300106 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Osteopenia, Inguinal hernia, Joint laxity, Congestive heart failure, Dilata... |
ORPHA:90348 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Jaundice |
ORPHA:69665 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Skeletal muscle hypertrophy, Osteoarthritis, Subdural hemorrhage |
OMIM:619714 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Syndactyly, Meckel diverticulum, Small for gestational... |
ORPHA:1708 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated... |
OMIM:605814 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Mixed total anomalous pulmonary venous connection, Apneic episodes in infan... |
ORPHA:99125 |
Meckel Syndrome, Type 1 |
|
Thin upper lip vermilion, Natal tooth, Camptodactyly of finger, Cleft upper lip, Micrognathia, Cl... |
OMIM:249000 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Diarrhea, Jaundice, Abnormal lymph node morphology, We... |
ORPHA:677 |
African Trypanosomiasis |
|
Impaired proprioception, Choreoathetosis, Vomiting, Nausea, Abnormal EKG, Papilledema, Hepatomega... |
ORPHA:3385 |
Osteogenesis Imperfecta, Type Xx |
|
Multiple prenatal fractures, High palate, Narrow palate |
OMIM:618644 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Micrognathia, Limitation of joint mobilit... |
ORPHA:79474 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... |
ORPHA:97286 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy |
ORPHA:99978 |
Diethylstilbestrol Syndrome |
|
Central apnea, Small for gestational age, Cryptorchidism, Testicular dysgenesis, Abnormal testis ... |
ORPHA:1916 |
Serkal Syndrome |
|
Malrotation of small bowel, Congenital diaphragmatic hernia, Pulmonic stenosis |
ORPHA:139466 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Osteomalacia, Peptic ulcer, Hypercalcemia, Hypermagnesemia, Hypocalcemic ... |
ORPHA:405 |
Charge Syndrome |
|
Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Cleft palate, Hypopl... |
ORPHA:138 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltransferase level |
ORPHA:247691 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Leukocytosis, Weight loss,... |
ORPHA:764 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Weight l... |
ORPHA:100086 |
Wiedemann-Rautenstrauch Syndrome |
|
Delayed eruption of teeth, Natal tooth, Micrognathia, Flexion contracture, Hypoplastic facial bon... |
OMIM:264090 |
Coffin-Siris Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Joint laxity, Conical tooth, Thick lower lip... |
OMIM:135900 |
Microvillus Inclusion Disease |
|
Diarrhea, Abnormal small intestinal villus morphology, Hypovolemia, Villous atrophy |
ORPHA:2290 |
Joubert Syndrome 5 |
|
Central apnea, Ataxia, Episodic tachypnea, Cleft palate, Neonatal breathing dysregulation |
OMIM:610188 |
Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Joint laxity, Cleft upper lip, Dental malocclusion, Cleft palate, Olig... |
OMIM:305600 |
Liposarcoma |
|
Varicose veins, Paresthesia, Weight loss |
ORPHA:69078 |
Gerstmann-Straussler Disease |
|
Limb ataxia, Weight loss, Gait ataxia, Myoclonus, Truncal ataxia, Lower limb muscle weakness |
OMIM:137440 |
Renal Cysts And Diabetes Syndrome |
|
Abnormality of alkaline phosphatase level, Gout, Elevated hepatic transaminase |
OMIM:137920 |
Visceral Myopathy 1 |
|
Aganglionic megacolon, Gastroparesis, Intestinal pseudo-obstruction, Pancreatitis, Diarrhea, Cons... |
OMIM:155310 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Cryptorchidism, Aplasia/Hyp... |
OMIM:219000 |
Floating-Harbor Syndrome |
|
Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Wide mouth, Oligodontia, ... |
ORPHA:2044 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Micrognathia, Knee flexion contracture, Radioulnar sy... |
OMIM:606170 |
Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Micrognathia, Joint stiffness, Cleft palate, Downturned corners of mou... |
ORPHA:199 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Seizure, Episodic vomiting, Cerebral hemorrhage |
ORPHA:221061 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Diarrhea, Weight loss, Vomiting, Hypernatremia, Failure to thrive |
ORPHA:35710 |
Colonic Atresia |
|
Omphalocele, Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inve... |
ORPHA:1198 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm... |
ORPHA:228116 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Joint laxity, Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Tal... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Joint laxity, Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Tal... |
ORPHA:353277 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss |
OMIM:605543 |
Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Hypokalemia, Constipation, Vomiting, Hypophosphatemia,... |
ORPHA:411629 |
Igg4-Related Kidney Disease |
|
Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitonea... |
ORPHA:449395 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic f... |
OMIM:617156 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration |
ORPHA:521219 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Interface hepatitis, Elevated circulating alkaline phosphatase con... |
ORPHA:562639 |
Norrie Disease |
|
Cachexia, Venous insufficiency, Cryptorchidism, Optic atrophy, Seizure, Failure to thrive |
ORPHA:649 |
Adrenocortical Carcinoma |
|
Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss, Hypertension, Hypokal... |
ORPHA:1501 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Intrahepatic cholestasis, Jaundice, Elevated ... |
ORPHA:480520 |
Goodpasture Syndrome |
|
Crackles, Increased DLCO, Tachypnea, Weight loss, Increased blood urea nitrogen, Restrictive vent... |
OMIM:233450 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Submucous cleft hard palate, Cleft palate, Widely spaced teeth, Tooth ... |
OMIM:235730 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Pancreatic calcification, Chronic calcifying pa... |
ORPHA:103918 |
Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Malabsorption, Obesity, Villous atrophy |
OMIM:600955 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Retroperitoneal fibrosis, Xerostomia, Enlarged lacrimal glands, Weight loss, Enlargemen... |
ORPHA:79078 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Natal tooth, Thin upper lip vermilion, Camptodactyly of finger, Abnormality of the de... |
ORPHA:3455 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Lip telan... |
OMIM:613471 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Constipation, Anemia |
ORPHA:52417 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss, Chronic constipation, Dysphagia, Orthostatic hypotension due to autonomic dysfunctio... |
ORPHA:411602 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Alpha-Fetoprotein Deficiency |
|
Decreased circulating alpha-fetoprotein concentration |
OMIM:615969 |
Acrodermatitis Enteropathica |
|
Malabsorption, Chronic diarrhea, Furrowed tongue, Weight loss, Failure to thrive, Glossitis |
ORPHA:37 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... |
ORPHA:247598 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Accelerated skeletal maturation, Diarrhea, Weight loss, Thyroid hyperp... |
ORPHA:424 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Portal hy... |
ORPHA:84081 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Hyponatremia, Accelerated skeletal maturation, Hypovolemia, Hyperkalemia, Testicular adren... |
ORPHA:90794 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
Leukemia, Chronic Myeloid |
|
Reduced leukocyte alkaline phosphatase |
OMIM:608232 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Elevated circulating aspartate aminotransferase concentration, Portal hypertension, J... |
OMIM:619534 |
Pallister-Hall Syndrome |
|
Microretrognathia, Natal tooth, Accessory oral frenulum, Cleft lip, Cleft palate, Distal arthrogr... |
ORPHA:672 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Elevated ... |
OMIM:124000 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cl... |
ORPHA:261537 |
Sotos Syndrome |
|
Joint laxity, Hip contracture, Ankle flexion contracture, Abnormality of the dentition, Craniosyn... |
ORPHA:821 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cl... |
ORPHA:261552 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Elevated circulating C-reactive protein concentration, Elevated c... |
ORPHA:91500 |
Familial Gestational Hyperthyroidism |
|
Goiter, Diarrhea, Thyroid hyperplasia, Weight loss |
ORPHA:99819 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Juvenile Nephropathic Cystinosis |
|
Elevated alkaline phosphatase of bone origin |
ORPHA:411634 |