| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia |
ORPHA:46532 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity, Hypomagnesemia |
OMIM:616418 |
| Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
| Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Genu recurvatum, Kyphosis, Thick lower lip vermil... |
OMIM:300602 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... |
OMIM:613845 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia |
OMIM:244460 |
| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
| Filippi Syndrome |
|
Dystonia, Wide nasal bridge, Thin vermilion border, Short philtrum, Hypodontia, Decreased body we... |
OMIM:272440 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Lumbar hyperlordosis, Congenital hip dislocation, Achilles tendon contr... |
OMIM:619719 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Hypoplastic fron... |
ORPHA:90650 |
| Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Thin upper lip vermilion, Small for gestational age, Short neck, ... |
OMIM:615583 |
| Intellectual Disability, Birk-Barel Type |
|
Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow pal... |
ORPHA:166108 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Accelerated skeletal maturation, Micrognathia, Irregular vertebral endplat... |
OMIM:618363 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... |
ORPHA:88661 |
| Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Vaginal hernia, Macrodontia, Abnormal dental enamel morp... |
ORPHA:2916 |
| Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Inguinal hernia, Genu recurvatum, Camptodactyly of finger, Short neck,... |
ORPHA:915 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Wide nasal bridge, Gingival overgrowth, Downturned corners of... |
OMIM:618729 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
| Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen... |
ORPHA:49042 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Delayed eruption of... |
OMIM:113000 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Hypomagnesemia 2, Renal |
|
Hypokalemia, Chondrocalcinosis, Hypomagnesemia |
OMIM:154020 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali... |
ORPHA:3352 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Abnormal spaced incisors, Tarsal synostosis, Micrognathia, Hypop... |
ORPHA:363417 |
| Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Primary Intestinal Lymphangiectasia |
|
Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, H... |
ORPHA:90362 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med... |
ORPHA:313892 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
| Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
| Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Carious teeth, Hemivertebrae, Wide nasal bridge, Vertebr... |
ORPHA:377 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Hyperlordosis, Carious teeth, Abnormality of the dentition, Delayed skeletal maturation, Reduced ... |
ORPHA:2501 |
| Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip vermilion, Maxil... |
ORPHA:1193 |
| Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Thin upper lip vermilion, Macrodontia, Sho... |
ORPHA:2332 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Trichodentoosseous Syndrome |
|
Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth |
OMIM:190320 |
| Hypophosphatasia, Adult |
|
Arthropathy, Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss... |
OMIM:146300 |
| Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Inguinal hernia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Delayed e... |
ORPHA:2409 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... |
ORPHA:3202 |
| Diaphanospondylodysostosis |
|
Cleft palate, Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral ... |
ORPHA:66637 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Vertebral fusion, Hip contracture, Inguinal hernia, Elbow contracture, Multiple pterygia, Short n... |
OMIM:178110 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha... |
OMIM:619743 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia |
OMIM:618314 |
| Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Micrognathia, Hypoplasia of ... |
OMIM:216550 |
| Hall-Riggs Syndrome |
|
U-Shaped upper lip vermilion, Kyphosis, Delayed skeletal maturation, Thick lower lip vermilion, O... |
OMIM:234250 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
| Rubinstein-Taybi Syndrome 2 |
|
Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High palate, Increas... |
OMIM:613684 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope... |
OMIM:618849 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thin upper lip vermilion, Thoracolumbar scoliosis, Short neck, Micrognathia, Flexion contracture,... |
OMIM:616549 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Diastema, Deep philtrum, Talon cusp, Cleft palate, Radioulnar synostosis, Carp... |
OMIM:605282 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Cleft upper lip, Short neck, Cleft palate, Abnormal verte... |
OMIM:244600 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... |
ORPHA:98870 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Ventral hernia, Thoracic scoliosis, Inguinal hernia, Short neck, Micrognathia, Osteoa... |
OMIM:618000 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Mandibular prognathia, Genu recurvatum, Slender build, Kyphosis, Narrow palate, Sho... |
ORPHA:364028 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Wide cranial sutures, Dental crowding, Micrognathia, Long nose, Hypopl... |
OMIM:257850 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypomagnesemia |
OMIM:619908 |
| Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Sacral dimple, Cleft palate, Thin vermilion border, Narrow mouth, Incisor macrodontia, Long philtrum |
OMIM:615502 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Joint stiffness, Hypoplasia of the odontoid process, De... |
ORPHA:485 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
| Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Cleft palate, Abnormality of the vertebral column, Scolio... |
ORPHA:2345 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrog... |
OMIM:606612 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Increased bone mineral density, Failure to thrive, Tarsal synostosis, Camptodactyly ... |
ORPHA:90652 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,... |
ORPHA:37042 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Abnormal dental enamel morphology, Abnormality of the dentition, Kyphosis, High... |
ORPHA:96169 |
| Lateral Meningocele Syndrome |
|
Smooth philtrum, Vertebral fusion, Inguinal hernia, Dental crowding, Short neck, Micrognathia, Ky... |
OMIM:130720 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Carious teeth, Osteoporosis, Inc... |
OMIM:136300 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft upper lip, Short neck, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 ve... |
OMIM:214300 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Multiple lipomas, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis |
OMIM:145981 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Scoliosis, Thoracic hemiver... |
OMIM:309620 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck,... |
OMIM:272460 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Osteomalacia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis |
OMIM:600740 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Reduced bone mineral density, High palate, Abnormal bone ossification, Abnormal verte... |
ORPHA:93315 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal scle... |
OMIM:144750 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Lipoatrophy, Micrognathia, Carious teeth, Kyphosis, Open bite, Reduced bone mineral density, Vert... |
ORPHA:2617 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens... |
ORPHA:848 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
| Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Everted low... |
OMIM:618067 |
| East Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
ORPHA:199343 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Vertebral segmentation defect |
OMIM:618845 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal dental morphology, Hyperlordosis, Micrognathia, Kyphosis, Short neck, Malar prominence, ... |
ORPHA:2522 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Hemivertebrae, Scoliosis, Butterfly vertebrae |
OMIM:122600 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... |
OMIM:265000 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Short neck, Micrognathia, Hypoplasia of the maxilla, Lar... |
OMIM:213980 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Narrow mouth, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Short philtrum, Camptod... |
OMIM:617333 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Thoracic he... |
OMIM:268310 |
| Autosomal Dominant Hypocalcemia |
|
Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Narrow mouth, Delayed skeletal maturation, Spina bifida occulta, Wide ... |
OMIM:235510 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Exaggerated startle response, Tented upper lip vermilion, Wide nasal br... |
ORPHA:438216 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Carious teeth, Flexion contract... |
OMIM:203550 |
| Pycnodysostosis |
|
Persistent open anterior fontanelle, Increased bone mineral density, Delayed eruption of primary ... |
OMIM:265800 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Scoliosis |
OMIM:607155 |
| Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio... |
OMIM:601678 |
| Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... |
OMIM:135100 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Thoracic hemivertebrae, Scoliosis |
ORPHA:1436 |
| Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re... |
ORPHA:210110 |
| Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Small for gestational age, Hypomagnesemia, Thrombocytopenia, Splen... |
ORPHA:699 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Elbow dislocation, Anterior vertebral fusion, Radioulnar synostosis, Shoulder dislocation, Long p... |
OMIM:171480 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Mandibular prognathia, Natal tooth, Dental crowding, Microdontia, Carious teeth, Genu... |
OMIM:269300 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Failure to thrive in infancy, Periostitis, Osteolysis, Fused cervical ... |
OMIM:612852 |
| Gitelman Syndrome |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia, Failure to thrive, Chondrocalcinosis |
OMIM:263800 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... |
OMIM:185000 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... |
OMIM:617021 |
| Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Cervical kyphosis, Cleft upper lip, Elbow dislocation, Dislocated... |
OMIM:150250 |
| Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Delaye... |
ORPHA:582 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Exaggerat... |
OMIM:620114 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ... |
ORPHA:405 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
| Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Foot joint contracture, Short neck, Micrognathia, Delayed skeletal maturation, D... |
ORPHA:444072 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
| Cranioectodermal Dysplasia |
|
Abnormal dental enamel morphology, Craniosynostosis, Abnormality of the dentition, Osteoporosis, ... |
ORPHA:1515 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Small for gestational age, Cleft upper ... |
OMIM:610443 |
| Lamb-Shaffer Syndrome |
|
Micrognathia, Fused cervical vertebrae, Thick vermilion border, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Glos... |
ORPHA:93346 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
| Marshall Syndrome |
|
Thick upper lip vermilion, Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Thick lower... |
OMIM:154780 |
| Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Widely spaced teeth, Anterior beaking of lumbar vertebrae, Joi... |
OMIM:253000 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... |
ORPHA:79102 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Inguinal hernia, Trismus, Deep philtrum, Dental malocclusion, Hyperextensible h... |
OMIM:227330 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... |
ORPHA:763 |
| Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat... |
ORPHA:289 |
| Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Osteomyelitis, Recurrent fractures, Abnormality of the dentition, Mandibular o... |
ORPHA:53 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
| Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Micrognathia, Kyphosis, Cleft lip, Spinal canal stenosis, Cleft palate, Fused c... |
ORPHA:1724 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Thoracic hemivertebrae, Scoliosis |
ORPHA:1445 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmenta... |
OMIM:118100 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Robinow Syndrome |
|
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Persiste... |
ORPHA:97360 |
| Nance-Horan Syndrome |
|
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Mulberry molar, Diastema |
OMIM:302350 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Dental crowdi... |
OMIM:608612 |
| Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Kyphoscoliosis, Dystonia, Macrodontia of permanent maxillary central incisor... |
ORPHA:466722 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor |
OMIM:620062 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:612780 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Enlargement of the ankles, Recurrent fractures, Carious teeth, Delayed... |
OMIM:277440 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Hypomagnesemia, Abnormal circulating neopterin concentration, Abnormal circulating biopterin conc... |
ORPHA:1578 |
| Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hypoch... |
OMIM:241200 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Hemivertebra... |
OMIM:613686 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Platyspondyly, Scoliosis |
OMIM:126550 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Amelogenesis imperfecta, Hypomagnesemia |
OMIM:248190 |
| Gitelman Syndrome |
|
Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Failure to th... |
ORPHA:358 |
| Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Kyphoscoliosis, Clef... |
OMIM:109400 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Failure to thrive in infancy, Splenomegaly, Rickets, Reduced blood urea nitrogen, H... |
OMIM:219800 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar hyperlordosis, Small for gestational age, Overweight, Downturned corners of mouth, Lumbar ... |
OMIM:617796 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of cani... |
ORPHA:364577 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Increased ... |
ORPHA:2169 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Small for gestational age, Hypochloremia, Hypokalemia, Increased circulating renin ... |
ORPHA:89938 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product... |
ORPHA:231222 |
| Camurati-Engelmann Disease |
|
Mandibular prognathia, Reduced subcutaneous adipose tissue, Increased bone mineral density, Cario... |
OMIM:131300 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Mandibul... |
OMIM:259710 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Micrognathia, Hyperlordosis, Dental malocclusion, Wide nasal bridge, Lo... |
ORPHA:73223 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hypoplasia of the... |
ORPHA:3145 |
| Dysostosis, Stanescu Type |
|
Persistent open anterior fontanelle, Increased bone mineral density, Abnormal dental enamel morph... |
ORPHA:1798 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
| Frontometaphyseal Dysplasia |
|
Limited elbow movement, Micrognathia, Oligodontia, Spina bifida occulta, Wrist flexion contractur... |
ORPHA:1826 |
| Hypomagnesemia 3, Renal |
|
Failure to thrive, Hyperuricemia, Hypomagnesemia |
OMIM:248250 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Atrophic scars, Enamel hypoplasia, Failure to thrive |
OMIM:226700 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Carious teeth, Delayed skeletal maturation, Calvarial hyperostosis, Failure to thrive |
OMIM:612714 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Overweight, Cervical C2/C3 vertebral fusion, Thin upper lip vermilion |
ORPHA:370010 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Peg-shaped maxillary lateral incisors, Microdontia |
OMIM:610706 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Kyphoscoliosis, Short neck, Micrognathia, Carious teeth, Trismus, Narrow mouth, Elbow flexion con... |
OMIM:272430 |
| Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cer... |
OMIM:617190 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Submucous cleft soft palate, Un... |
ORPHA:2751 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Dental crowding, Increased subcutaneou... |
ORPHA:2457 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
| Cerebellofaciodental Syndrome |
|
Short neck, Delayed skeletal maturation, Dental malocclusion, Genu valgum, Taurodontia, Scoliosis... |
OMIM:616202 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Delayed skeletal maturation, Genu valgum, Hypoplasia of teeth, Hypophosphatemic ri... |
OMIM:613312 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
| Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
| Myhre Syndrome |
|
Mandibular prognathia, Vertebral fusion, Thin upper lip vermilion, Small for gestational age, Sho... |
OMIM:139210 |
| 48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Abnormal dental enamel morphol... |
ORPHA:96263 |
| Mucopolysaccharidosis, Type Ivb |
|
Joint laxity, Mandibular prognathia, Inguinal hernia, Ulnar deviation of the wrist, Ovoid vertebr... |
OMIM:253010 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Carious teeth, High palate, Scoliosis... |
OMIM:219200 |
| Caudal Regression Syndrome |
|
Joint stiffness, Aplasia/Hypoplasia of the sacrum, Orofacial cleft, Hypoplastic vertebral bodies,... |
ORPHA:3027 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Long nose, Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Thin upper lip vermilion, Sacral dimple, Inguinal hernia, Small for gestational age, ... |
ORPHA:363611 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Li... |
OMIM:248370 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Glossoptosis, Spina bifida o... |
ORPHA:1452 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
| Kbg Syndrome |
|
Vertebral fusion, Tented upper lip vermilion, Macrodontia, Short neck, Delayed skeletal maturatio... |
OMIM:148050 |
| W Syndrome |
|
Elbow dislocation, Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodact... |
ORPHA:2804 |
| Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
| Wolf-Hirschhorn Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Orofacial cleft, Downturned corners of mouth... |
OMIM:194190 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced bone mineral den... |
OMIM:617052 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Posterior wedging of vertebr... |
ORPHA:50814 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Micrognathia, Hip dislocation, Cleft palate, Fused cervical ve... |
ORPHA:3320 |
| Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Elbow disloca... |
ORPHA:2769 |
| Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur... |
OMIM:180849 |
| Duane Retraction Syndrome |
|
Short neck, Micrognathia, Spina bifida occulta, Wide nasal bridge, Abnormal form of the vertebral... |
ORPHA:233 |
| Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Vertebral fusion, Inguinal hernia, Congenital hip dislocation, Omphalocele... |
ORPHA:373 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Craniosyn... |
OMIM:259700 |
| Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... |
OMIM:252100 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... |
OMIM:277410 |
| Isolated Cleft Lip |
|
Small for gestational age, Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-mi... |
ORPHA:199302 |
| Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Sagittal craniosynostosis, Limited elbow moveme... |
OMIM:101200 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Bicoronal synostosis, Diastema, Kyphosis, Supernumerary tooth, Agenesis of molar, Ost... |
OMIM:619718 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Hemolytic anemia, Hip contracture, Inguinal hernia, Flexion ... |
OMIM:619503 |
| Momo Syndrome |
|
Delayed eruption of teeth, Short neck, Delayed skeletal maturation, Thick lower lip vermilion, De... |
OMIM:157980 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Submucous cleft hard palate, Retrognathia, Fused cervical vertebrae, Spina bifida occulta, Butter... |
OMIM:619227 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
| Helix Syndrome |
|
Hypokalemia, Hypermagnesemia |
OMIM:617671 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Natal tooth, Dental crowding, Avascular necrosis of the capital femoral epiphysis, ... |
ORPHA:353281 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Enlarged interphalangeal joints, Genu recurvatum, Interphalangeal joint contracture of finger, Jo... |
OMIM:151200 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Smooth philtrum, Dental crowding, Congenital diaphragmatic hernia, Long nose, Kyphosis, Carious t... |
OMIM:617602 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernu... |
OMIM:271520 |
| Atelosteogenesis, Type I |
|
Short neck, Thoracic platyspondyly, Elbow dislocation, Micrognathia, Cleft palate, Knee dislocati... |
OMIM:108720 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... |
OMIM:211380 |
| Craniolenticulosutural Dysplasia |
|
Osteopenia, Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Delayed closure of... |
OMIM:607812 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Multiple joint dislocation, High palate, M... |
ORPHA:536467 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Hiatus hernia, Cleft upper lip, Cleft palate, Mult... |
ORPHA:50 |
| Hereditary Methemoglobinemia |
|
Small for gestational age, Methemoglobinemia |
ORPHA:621 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231226 |
| Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cervical C5/C6 verte... |
ORPHA:87 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Microretrognathia, Thoracic scoliosis, Cervical hemivertebrae, Thin upper ... |
ORPHA:508498 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231214 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... |
OMIM:241150 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Abnormal trabecular bone morphology, Delayed eruption of teeth, Sm... |
ORPHA:221016 |
| Odontoonychodermal Dysplasia |
|
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... |
OMIM:257980 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Absent trapezium, Pulp calcification, Absent scaphoid, Absent trapezoid bone, Microdontia, Distal... |
OMIM:606895 |
| Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Hiatus hernia, Cleft upper lip, Hemivertebrae, Cle... |
OMIM:304050 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Flexion contracture, Failure to thrive, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Fanconi Anemia, Complementation Group I |
|
Fused cervical vertebrae, Decreased body weight, Short neck |
OMIM:609053 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Doors Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Sagittal craniosynostosis, Abnormality of the d... |
ORPHA:79500 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Congenital hip dislocation, Elbow contracture, Deep philtrum, Pierre-Robin seque... |
OMIM:617137 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Sacral dimple, Inguinal hernia, Tented upper lip vermi... |
OMIM:613458 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Osteoporosis, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia... |
OMIM:127550 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
| Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
| Peters-Plus Syndrome |
|
Short lingual frenulum, Limited elbow movement, Short neck, Micrognathia, Hypoplasia of the maxil... |
OMIM:261540 |
| Chops Syndrome |
|
High, narrow palate, Obesity, Downturned corners of mouth, Long philtrum, Tracheomalacia, Cervica... |
OMIM:616368 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Joint laxity, Natal tooth, Dental crowding, Micrognathia, Avascular necrosis of the capital femor... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Joint laxity, Natal tooth, Dental crowding, Micrognathia, Avascular necrosis of the capital femor... |
ORPHA:353277 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Failure to thrive, Micrognathia, Contracture of the distal interphalangeal joint... |
ORPHA:83617 |
| Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Palate fistula, Bilateral cleft lip |
OMIM:616788 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Umbilical hernia, Overweight, Hiatus hernia |
OMIM:619769 |
| Arboleda-Tham Syndrome |
|
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Dystonia, Craniosynostosis, E... |
OMIM:616268 |
| Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Downturned corners of mouth, Narrow m... |
ORPHA:1780 |
| Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Fused cervical vertebrae, Bifid uvula, Flat acetabular roof |
OMIM:617159 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Delayed eruption of teeth, Small for gestational... |
ORPHA:2909 |
| Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Delayed skeletal maturation, Wi... |
OMIM:157800 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperostosis, Subperiosteal bone formation, Taurodontia, Pulp calcification, Enamel hypoplasia |
OMIM:211900 |
| Aspartylglucosaminuria |
|
Mandibular prognathia, Inguinal hernia, Joint stiffness, Carious teeth, Abnormality of the dentit... |
ORPHA:93 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... |
ORPHA:124 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, 4-5 metacarpal synostosi... |
OMIM:268305 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Persistence of hemoglobin F, Ane... |
OMIM:260400 |
| Tooth Agenesis, Selective, 4 |
|
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... |
OMIM:150400 |
| Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies, Short neck, Abnormal pri... |
ORPHA:1830 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Wormian bones, Micrognathia, Obesity, Downturned corners of mouth, Glos... |
ORPHA:444077 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Hemivertebrae, Butterfly vertebrae, Vertebral hypoplasia |
OMIM:206900 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Microretrognathia, Delayed eruption of teeth, Congenital hip dislocation, Inguinal he... |
OMIM:278250 |
| Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Vertebral segmentation defect, Radial club hand |
ORPHA:959 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Cranial hyperostosis, Imbalan... |
ORPHA:330015 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... |
ORPHA:268882 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin |
ORPHA:423479 |
| Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De... |
OMIM:610829 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Patellar aplasia, Hip dislocation, Cleft palate, Fused cervical vertebrae, Patellar... |
OMIM:274000 |
| Saethre-Chotzen Syndrome |
|
Long nose, Hypoplasia of the maxilla, Cleft of chin, Narrow palate, Cleft palate, Radioulnar syno... |
OMIM:101400 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Short dental root... |
OMIM:182250 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Duane-Radial Ray Syndrome |
|
Fused cervical vertebrae, Shoulder dislocation, Spina bifida occulta, Scoliosis |
OMIM:607323 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia |
ORPHA:99867 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele, Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Failure to thrive |
OMIM:306955 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Smooth philtrum, Thin upper lip vermilion, Aplasia of the right hemidiaphr... |
OMIM:619841 |
| Chand Syndrome |
|
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... |
ORPHA:1401 |
| Craniofacial Microsomia 1 |
|
Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Hemivertebrae, Cleft p... |
OMIM:164210 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious... |
OMIM:149730 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Flexion contracture, Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Bloom Syndrome |
|
Malar flattening, Small for gestational age, Agenesis of maxillary lateral incisor |
OMIM:210900 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Umbilical hernia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
| Branchiooculofacial Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Micrognathia, Cleft of chin, Elbow flexion contracture, Clef... |
OMIM:113620 |
| Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Failure to thrive in infancy, Osteomalacia, Abnormal calcification of th... |
ORPHA:51608 |
| Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici... |
ORPHA:97214 |
| Microphthalmia, Syndromic 1 |
|
Lumbar hyperlordosis, Dental crowding, Kyphoscoliosis, Cleft upper lip, High, narrow palate, Agen... |
OMIM:309800 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Failure to thrive, Microcytic anemia |
OMIM:618811 |
