Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... |
OMIM:245480 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture, Connective tissue nevi |
OMIM:166700 |
Immunodeficiency 81 |
|
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Diabetes mellitus, Ectopic ossification |
OMIM:602475 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Isolated Osteopoikilosis |
|
Autoimmunity, Keloids, Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossifi... |
ORPHA:166119 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology, Multiple lipomas |
ORPHA:1879 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... |
OMIM:618986 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Dentin Dysplasia |
|
Abnormal dental enamel morphology, Increased bone mineral density |
ORPHA:1653 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Osteoporosis, Gout, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia |
OMIM:610947 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Craniosynostosis, Hypophosphatemia, Increased bone mineral density, Hypophosphatemic ric... |
OMIM:241520 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density |
OMIM:259660 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia |
OMIM:618406 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Melorheostosis |
|
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Atypical scarring of skin, Increa... |
ORPHA:2485 |
Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology, Inflammatory abnormality of the skin |
ORPHA:542592 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density |
OMIM:239100 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... |
ORPHA:2790 |
Flynn-Aird Syndrome |
|
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... |
OMIM:136300 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis |
OMIM:125440 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Shwachman-Diamond Syndrome |
|
Sinusitis, Eczema, Neutropenia, Leukemia, Steatorrhea, Pancytopenia, Bone marrow hypocellularity,... |
ORPHA:811 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Elevated circulating parathyroid hormone level, Diaphyseal sclerosis, Craniofacial hyperostosis, ... |
OMIM:122860 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Decreased circulating free T4 level, Central hypothyroidism, Hypercholesterolemia, Inappropriatel... |
OMIM:301033 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Splenomegaly, Skin rash, Maculopapular exanthema, Increased propor... |
ORPHA:98848 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones |
ORPHA:564003 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... |
ORPHA:566943 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... |
OMIM:616000 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Insulin-resistant diabetes mellitus, Lipodystrophy, Hypertriglyceridemia, Decreas... |
ORPHA:79085 |
Insulin Autoimmune Syndrome |
|
Autoimmunity, Arthralgia/arthritis, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypogly... |
ORPHA:411593 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Sclerosteosis |
|
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3152 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Splenomegaly, Impaired neutrophil bactericidal activity, Nonspherocytic hemolytic anemia, Cholecy... |
OMIM:613470 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant diabetes mellitus... |
ORPHA:435660 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis |
OMIM:607634 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Lymphadenitis, Abscess, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Impaired oxid... |
OMIM:618935 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hyperlipidemia, Insulin-resistant diabetes mellitus... |
ORPHA:435651 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Autoimmunity, Diabetes mellitus |
OMIM:612227 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy, Hypercholesterolem... |
OMIM:612526 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density |
OMIM:166740 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Impaired platelet aggregation, Conjunctivitis, Leukocytosis, Polycythemia, Bone marrow... |
ORPHA:2968 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Mucous Membrane Pemphigoid |
|
Autoimmunity, Atypical scarring of skin |
ORPHA:46486 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:232700 |
Distal Osteosclerosis |
|
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis |
OMIM:126250 |
Intermediate Osteopetrosis |
|
Abnormality of bone mineral density, Generalized osteosclerosis, Increased susceptibility to frac... |
ORPHA:210110 |
Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... |
OMIM:166600 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... |
OMIM:144750 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Pseudohypoparathyroidism Type 1B |
|
Elevated circulating parathyroid hormone level, Increased bone density with cystic changes, Hypoc... |
ORPHA:94089 |
Say-Barber-Miller Syndrome |
|
Abnormal T cell morphology, Eczema, Transient hypogammaglobulinemia of infancy, Decreased circula... |
ORPHA:3132 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con... |
OMIM:615703 |
Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Autoimmunity, Hypocalcemic tetany, Hypocalcemic seizures, Autoimmu... |
ORPHA:36913 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
C1Q Deficiency |
|
Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... |
OMIM:233710 |
Secondary Non-Traumatic Avascular Necrosis |
|
Autoimmunity, Abnormality of connective tissue, Systemic lupus erythematosus, Rheumatoid arthriti... |
ORPHA:399180 |
Immunodeficiency 31C |
|
Autoimmunity, Osteopenia, Diabetes mellitus, Hypothyroidism, Delayed puberty, Autoimmune hemolyti... |
OMIM:614162 |
Buschke-Ollendorff Syndrome |
|
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, C... |
ORPHA:1306 |
Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... |
OMIM:606721 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... |
OMIM:233690 |
Granulomatous Disease, Chronic, X-Linked |
|
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... |
OMIM:306400 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
Osteogenesis Imperfecta, Type Xiii |
|
Joint hypermobility, Osteoporosis, Increased bone mineral density, Umbilical hernia |
OMIM:614856 |
Pycnodysostosis |
|
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density |
OMIM:265800 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Chediak-Higashi Syndrome |
|
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... |
OMIM:214500 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Insulin-resistant diabetes mellitus, Reduced intrat... |
ORPHA:2457 |
Chédiak-Higashi Syndrome |
|
Abnormal natural killer cell morphology, Neutropenia, Abnormal platelet function, Thrombocytopeni... |
ORPHA:167 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Ankylosis, Hydroxyprolinemia, Osteoporosis, Hyperuricemia, Increased bone mineral density, Recurr... |
OMIM:239000 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Osteoporosis, Hyperuricemia, Hypercholesterolemia, Hyperosto... |
ORPHA:77296 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Ghosal Hematodiaphyseal Dysplasia |
|
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density |
OMIM:231095 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Diabetes insipidus, Hypercholesterolemia, Hypogonadism, Diabetes mellitus |
ORPHA:181393 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... |
ORPHA:98850 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of subcutaneous ad... |
OMIM:151660 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Temple Syndrome |
|
Maturity-onset diabetes of the young, Joint hypermobility, Hypercholesterolemia, Hypertriglycerid... |
OMIM:616222 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
Osteopetrosis, Autosomal Recessive 1 |
|
Osteopetrosis, Craniosynostosis, Calvarial osteosclerosis, Osteomyelitis, Pathologic fracture, In... |
OMIM:259700 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... |
ORPHA:2442 |
Insulin-Resistance Syndrome Type B |
|
Autoimmunity, Increased serum testosterone level, Type II diabetes mellitus, Abnormality of circu... |
ORPHA:2298 |
Otopalatodigital Syndrome Type 1 |
|
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... |
ORPHA:90650 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased serum leptin |
OMIM:614962 |
Albers-Schönberg Osteopetrosis |
|
Generalized osteosclerosis, Arthritis, Osteomyelitis, Mandibular osteomyelitis, Hypocalcemia, Rec... |
ORPHA:53 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased facial adipose tissue, Decreased HDL cholesterol concentration, Loss of subcutaneous ad... |
ORPHA:280365 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... |
OMIM:605814 |
Dysosteosclerosis |
|
Abnormal dental enamel morphology, Coarse metaphyseal trabecularization, Craniofacial hyperostosi... |
ORPHA:1782 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
Diastrophic Dysplasia |
|
Joint stiffness, Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger |
ORPHA:628 |
Type 1 Diabetes Mellitus |
|
Autoimmunity, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus |
OMIM:222100 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Knee osteoarthritis, Abnormal epiphyseal ossification, Localized osteoporosis... |
ORPHA:93284 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Bone cyst, Lipodystrophy, Adipose tissue loss, Hypercholesterolemi... |
ORPHA:528 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... |
ORPHA:85188 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Elevated circulating parathyroid hormone level, Hypercalcemia, Calvarial osteosclerosis, Osteopen... |
OMIM:617994 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Joint hypermobility, Hypercholesterolemia, Precocious puberty |
ORPHA:254531 |
Poems Syndrome |
|
Sclerosis of foot bone, Abnormality of the endocrine system, Lipodystrophy, Primary adrenal insuf... |
ORPHA:2905 |
Camurati-Engelmann Disease |
|
Cortical thickening of long bone diaphyses, Reduced subcutaneous adipose tissue, Diaphyseal scler... |
OMIM:131300 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification |
ORPHA:163649 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcification |
ORPHA:75234 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Enamel hypomineralization, Increased bone mineral density |
ORPHA:3352 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Systemic lupus erythematosus, Hyperthyroidism, Rheumatoid arthritis, Hypothyroidism |
ORPHA:48377 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Pycnodysostosis |
|
Decreased serum insulin-like growth factor 1, Generalized osteosclerosis, Increased susceptibilit... |
ORPHA:763 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteopetrosis, Diaphyseal sclerosis, Osteomyelitis, Mandibular osteomyelitis, Cranial hyperostosi... |
OMIM:259710 |
Werner Syndrome |
|
Thyroid carcinoma, Type II diabetes mellitus, Chondrocalcinosis, Osteoporosis, Lipodystrophy, Hyp... |
ORPHA:902 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphology, Increased bone mineral d... |
ORPHA:289176 |
Pseudohypoparathyroidism Type 1C |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Hypocalcemic sei... |
ORPHA:79444 |
Pseudohypoparathyroidism Type 1A |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Hypocalcemic sei... |
ORPHA:79443 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
Majeed Syndrome |
|
Synovitis, Increased susceptibility to fractures, Osteomyelitis, Increased bone mineral density, ... |
ORPHA:77297 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Increased bone mineral density, Osteopenia |
ORPHA:85184 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... |
OMIM:601376 |
Gaucher Disease Type 1 |
|
Osteopenia, Pathologic fracture, Increased bone mineral density, Osteoarthritis, Delayed puberty,... |
ORPHA:77259 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Autoimmune Polyendocrinopathy Type 1 |
|
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Autoimmunity, I... |
ORPHA:3453 |
Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Laron Syndrome |
|
Hypercholesterolemia, Osteoarthritis, Abnormality of the endocrine system, Delayed puberty |
ORPHA:633 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Osteopenia, Pa... |
OMIM:112250 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose t... |
OMIM:608594 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Facial hyperostosis, Osteopetrosis, Increased bone mineral density, Coarse metaphyseal trabecular... |
ORPHA:2780 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Autoimmunity, Panniculitis, Hypertriglyceridemia |
OMIM:618398 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Congenital hypoparathyroidism, Hypocalcemic seizures, Patchy osteosclerosis, Hypocalcemia, Decrea... |
OMIM:241410 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Umbilical hernia, Insulin-resistant diabetes mellitus at puberty, Reduced intrathoracic adipose t... |
OMIM:269700 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Immunodeficiency 22 |
|
Autoimmunity, Panniculitis |
OMIM:615758 |
Nestor-Guillermo Progeria Syndrome |
|
Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Progressive clavicular acro... |
OMIM:614008 |
Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
Acquired Generalized Lipodystrophy |
|
Autoimmunity, Insulin-resistant diabetes mellitus, Unicameral bone cyst, Abnormal circulating lip... |
ORPHA:79086 |
Dysosteosclerosis |
|
Increased susceptibility to fractures, Sclerotic scapulae, Sclerosis of hand bone, Osteopenia, Cl... |
OMIM:224300 |
X-Linked Hypophosphatemia |
|
Rickets, Vertebral hyperostosis, Generalized osteosclerosis, Craniosynostosis, Hypophosphatemia, ... |
ORPHA:89936 |
Atypical Werner Syndrome |
|
Type II diabetes mellitus, Chondrocalcinosis, Abnormality of circulating leptin level, Insulin-re... |
ORPHA:79474 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Thickened cortex of long bones, Increased bone mineral density, Hypocalcemia,... |
OMIM:127000 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Goiter, Neonatal hyperbilirubinemia, Thyroid hy... |
ORPHA:90674 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Galactokinase Deficiency |
|
Hypergalactosemia, Hypercholesterolemia, Hypergonadotropic hypogonadism, Increased level of galac... |
ORPHA:79237 |
Lenz-Majewski Hyperostotic Dwarfism |
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Elbow ankylosis, Osteopetrosis, Abnormal dental enamel morphology, Abnormal cortical bone morphol... |
ORPHA:2658 |
Osteopetrosis, Autosomal Recessive 4 |
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Recurrent fractures, Osteopetrosis |
OMIM:611490 |
Dysostosis, Stanescu Type |
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Massively thickened long bone cortices, Abnormal dental enamel morphology, Increased bone mineral... |
ORPHA:1798 |
Pemphigus Erythematosus |
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Autoimmunity, Systemic lupus erythematosus, Antinuclear antibody positivity, Anti-acetylcholine r... |
ORPHA:79480 |
Dysbetalipoproteinemia |
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Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Gout, Hyperchol... |
ORPHA:412 |
Igg4-Related Thyroid Disease |
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Anti-thyroid peroxidase antibody positivity, Autoimmunity, Goiter, Nodular goiter, Abnormality of... |
ORPHA:64744 |
Sanjad-Sakati Syndrome |
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Hypoparathyroidism, Congenital hypoparathyroidism, Patchy osteosclerosis, Abnormal dental enamel ... |
ORPHA:2323 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
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Maturity-onset diabetes of the young, Joint hypermobility, Hypercholesterolemia, Precocious puberty |
ORPHA:96184 |
Trichothiodystrophy |
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Absence of subcutaneous fat, Craniosynostosis, Osteopenia, Enamel hypoplasia, Increased bone mine... |
ORPHA:33364 |
Congenital Analbuminemia |
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Hypoproteinemia, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoalbuminemia, Increased ... |
ORPHA:86816 |
Sjogren Syndrome |
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Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
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Osteopetrosis |
OMIM:617306 |
Otopalatodigital Syndrome Type 2 |
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Tarsal synostosis, Omphalocele, Abnormal vertebral segmentation and fusion, Synostosis of carpal ... |
ORPHA:90652 |
Apolipoprotein C-Ii Deficiency |
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Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridem... |
OMIM:207750 |
Schwartz-Jampel Syndrome |
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Shoulder flexion contracture, Hip contracture, Flexion contracture of toe, Elevated circulating c... |
ORPHA:800 |
Raine Syndrome |
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Enamel hypoplasia, Arthrogryposis multiplex congenita, Hypophosphatemia, Increased bone mineral d... |
OMIM:259775 |
Gaucher Disease |
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Osteoarthritis, Abnormal bone structure, Arthrogryposis multiplex congenita, Osteopenia, Osteomye... |
ORPHA:355 |
Desmosterolosis |
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Osteopetrosis, Increased bone mineral density |
ORPHA:35107 |
Erdheim-Chester Disease |
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Diabetes insipidus, Hypogonadotropic hypogonadism, Osteomyelitis, Xanthelasma, Increased bone min... |
ORPHA:35687 |
12Q14 Microdeletion Syndrome |
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Osteopoikilosis, Diabetes mellitus |
ORPHA:94063 |
Smith-Magenis Syndrome |
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Hypercholesterolemia, Hypertriglyceridemia, Abnormality of the thyroid gland |
OMIM:182290 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Osteopetrosis, Hypocalcemia |
OMIM:618476 |
Autoimmune Polyendocrinopathy Type 3 |
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Autoimmune hypoparathyroidism, Autoimmunity, Antiphospholipid antibody positivity, Osteopenia, Au... |
ORPHA:227982 |
Mastocytosis |
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Chronic leukemia, Mastocytosis, Acute leukemia, Splenomegaly |
ORPHA:98292 |
Leukocyte Adhesion Deficiency, Type Iii |
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Osteopetrosis |
OMIM:612840 |
Desmosterolosis |
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Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand, Ab... |
OMIM:602398 |
Megalocornea-Intellectual Disability Syndrome |
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Hypercholesterolemia, Joint hyperflexibility, Hypothyroidism, Osteopenia |
ORPHA:2479 |
Gracile Bone Dysplasia |
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Hypoplastic spleen, Asplenia |
OMIM:602361 |
Citrullinemia Type Ii |
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Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... |
ORPHA:247585 |
Osteopetrosis, Autosomal Recessive 5 |
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Osteopetrosis, Hyperbilirubinemia, Hypocalcemia |
OMIM:259720 |
Autoimmune Polyendocrinopathy Type 4 |
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Autoimmunity, Antiphospholipid antibody positivity, Osteopenia, Autoimmune thrombocytopenia, Rheu... |
ORPHA:227990 |
Mirage Syndrome |
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Leukopenia, Anemia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia, Aspiration pneumonia |
OMIM:617053 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Hypercholesterolemia, Hypoalbuminemia |
OMIM:208920 |
Gaucher Disease Type 3 |
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Increased susceptibility to fractures, Increased bone mineral density, Delayed puberty, Osteolysis |
ORPHA:77261 |
Hennekam-Beemer Syndrome |
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Mastocytosis, Pneumonia |
ORPHA:2135 |
Rett Syndrome |
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Increased serum pyruvate, Increased serum leptin, Hyperammonemia |
ORPHA:778 |
Sitosterolemia 1 |
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Hypercholesterolemia, Elevated circulating sitosterol concentration, Arthritis, Hyperapobetalipop... |
OMIM:210250 |
Megalocornea-Mental Retardation Syndrome |
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Hypercholesterolemia, Primary hypothyroidism, Osteopenia |
OMIM:249310 |
Osteopetrosis, Autosomal Recessive 3 |
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Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis |
OMIM:259730 |
Lysosomal Acid Lipase Deficiency |
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Adrenal insufficiency, Decreased HDL cholesterol concentration, Increased LDL cholesterol concent... |
OMIM:278000 |
Familial Hypocalciuric Hypercalcemia |
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Hypercalcemia, Autoimmunity, Chondrocalcinosis, Hypocalcemic seizures, Infantile hypercalcemia, R... |
ORPHA:405 |
Hyperoxaluria, Primary, Type I |
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Pathologic fracture, Increased bone mineral density, Hyperoxaluria |
OMIM:259900 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
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Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... |
ORPHA:567548 |
Smith-Magenis Syndrome |
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Hypercholesterolemia, Hypertriglyceridemia, Hypothyroidism, Joint stiffness, Precocious puberty, ... |
ORPHA:819 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... |
ORPHA:247598 |
9Q31.1Q31.3 Microdeletion Syndrome |
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Hypercholesterolemia, Type II diabetes mellitus |
ORPHA:401923 |
Lysinuric Protein Intolerance |
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Abnormal circulating serine concentration, Decreased HDL cholesterol concentration, Increased LDL... |
ORPHA:470 |
Hyperlipoproteinemia, Type I |
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Hypercholesterolemia, Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concent... |
OMIM:238600 |
Pmm2-Cdg |
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Impaired neutrophil chemotaxis, Pericarditis, Aspiration pneumonia |
ORPHA:79318 |
Nephrotic Syndrome, Type 11 |
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Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Elevated circulating creatine kinase concentration, Osteoporosis, Hypercholesterolemia, Hypertrig... |
ORPHA:264580 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
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Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypercholesterole... |
ORPHA:64753 |
Cleidocranial Dysplasia |
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Increased susceptibility to fractures, Enamel hypoplasia, Delayed pubic bone ossification, Increa... |
OMIM:119600 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Cog4-Cdg |
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Hypercholesterolemia |
ORPHA:263501 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Elevated circulating creatine kinase concentration, Osteoporosis, Hypercholesterolemia, Hypertrig... |
ORPHA:79240 |
Blomstrand Lethal Chondrodysplasia |
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Synostosis of joints, Increased bone mineral density |
ORPHA:50945 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum ... |
OMIM:619662 |
Williams Syndrome |
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Hypercalcemia, Type II diabetes mellitus, Abnormal circulating lipid concentration, Elevated circ... |
ORPHA:904 |
Pearson Syndrome |
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Hepatomegaly, Neutropenia, Thrombocytopenia, Macronodular cirrhosis, Bone marrow hypocellularity,... |
ORPHA:699 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hyperlipidemia, Increased susceptibility to fractures, Osteoporosis, Gout, Hyperuricemia, Hyperch... |
ORPHA:79259 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Hypercholesterolemia, Hypothyroidism, Hypopituitarism |
ORPHA:90065 |
Hutchinson-Gilford Progeria Syndrome |
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Limitation of movement at ankles, Osteoarthritis, Absence of subcutaneous fat, Osteolytic defects... |
ORPHA:740 |
Microphthalmia, Syndromic 9 |
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Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
Galloway-Mowat Syndrome 7 |
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Hypercholesterolemia |
OMIM:618348 |
Low Phospholipid-Associated Cholelithiasis |
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Hypercholesterolemia, Diabetes mellitus |
ORPHA:69663 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Elevated circulating creatine kinase concentration, Hypercholesterolemia, Delayed puberty, Hypert... |
ORPHA:370 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypercholesterolemia, Lipoatrophy, Pulmonary carcinoid tumor, Hypertriglyceridemia |
ORPHA:363618 |
Primary Hyperoxaluria |
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Generalized osteosclerosis, Recurrent fractures, Hyperoxaluria |
ORPHA:416 |
Sclerosteosis 1 |
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Facial palsy secondary to cranial hyperostosis, Sclerotic scapulae, Cortically dense long tubular... |
OMIM:269500 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis, Hypocalcemic seizures |
OMIM:612301 |
Gaisböck Syndrome |
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Hyperproteinemia, Gout, Hyperuricemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceride... |
ORPHA:90041 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Diabetes insipidus, Hypokalemia, Umbilical hernia, Hypophosphatemia, Arthritis, Abn... |
ORPHA:534 |
Autosomal Recessive Malignant Osteopetrosis |
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Osteopetrosis, Craniosynostosis, Hypophosphatemia, Reduced bone mineral density, Hypocalcemia, Re... |
ORPHA:667 |
Lowe Oculocerebrorenal Syndrome |
|
Rickets, Elevated maternal serum alpha-fetoprotein, Joint contracture of the hand, Pathologic fra... |
OMIM:309000 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypercholesterolemia |
OMIM:615812 |
Osteopetrosis With Renal Tubular Acidosis |
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Elevated circulating creatine kinase concentration, Osteopetrosis, Secondary hyperparathyroidism,... |
ORPHA:2785 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Hyponatremia, Primary adrenal insufficiency, Hypercholesterolemia, Xanthelasma, Ste... |
ORPHA:275761 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Male hypogonadism |
OMIM:619471 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sclerosis of skull base, Thickened cortex of long bones, Increased density of long bones |
OMIM:269150 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Joint hypermobility, Decreased circulating copper concentration |
OMIM:300972 |
Steinert Myotonic Dystrophy |
|
Testicular atrophy, Non-medullary thyroid carcinoma, Secondary hyperparathyroidism, Abnormality o... |
ORPHA:273 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Papillary thyroid carcinoma, Hypertriglyceridemia |
OMIM:118450 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Diabetes insipidus, Elevated circulating creatinine concentration, Hyperbilirubinemia, Osteopenia... |
OMIM:619534 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
Asthma, Susceptibility To |
|
|
OMIM:600807 |