| Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
| Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71529 |
| Obesity And Hypopigmentation |
|
Polyphagia, Hyperinsulinemia, Overgrowth, Obesity |
OMIM:620195 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis |
ORPHA:53697 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia |
ORPHA:329249 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Failure to thrive, Clavicular sclerosis |
OMIM:615198 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia |
ORPHA:1802 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age |
OMIM:618858 |
| Mazabraud Syndrome |
|
Fibrous dysplasia of the bones, Recurrent fractures |
ORPHA:57782 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... |
OMIM:616329 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
| Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin, Polyphagia |
OMIM:617885 |
| Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Gonadotropin de... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Obesity, Gonadotropin de... |
ORPHA:71526 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Summitt Syndrome |
|
Obesity, Craniosynostosis |
OMIM:272350 |
| Leptin Deficiency Or Dysfunction |
|
Polyphagia, Hypogonadism, Obesity, Decreased serum leptin |
OMIM:614962 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Ma... |
ORPHA:324575 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age |
OMIM:606176 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior, Large for gestational age |
ORPHA:356996 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia, Large for gestati... |
OMIM:601820 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I dia... |
ORPHA:276580 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density |
ORPHA:970 |
| Familial Expansile Osteolysis |
|
Pathologic fracture, Osteolysis, Thin bony cortex |
OMIM:174810 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
| Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
| Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,... |
OMIM:114000 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:369873 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
| Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios... |
ORPHA:1310 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Polyphagia, Hyperglycemia |
OMIM:222100 |
| Bardet-Biedl Syndrome 22 |
|
Polyphagia, Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility |
ORPHA:166277 |
| Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Agi... |
ORPHA:276575 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... |
ORPHA:171706 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria |
OMIM:618857 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure |
ORPHA:46532 |
| Cranio-Osteoarthropathy |
|
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness |
ORPHA:1525 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati... |
OMIM:600785 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity, Joint stiffness |
ORPHA:1078 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... |
OMIM:262190 |
| Eiken Syndrome |
|
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... |
ORPHA:79106 |
| Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, ... |
ORPHA:276556 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Pyle Disease |
|
Limited elbow extension, Thin bony cortex, Reduced bone mineral density |
OMIM:265900 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
| Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Joint stiffness, Abnormal enchondral ossification, Abnormal cortical bon... |
ORPHA:2635 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
| Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, B... |
OMIM:231095 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
| Proteus Syndrome |
|
Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosis, Thin bony cortex |
OMIM:176920 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Thin bony cortex |
ORPHA:75508 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Obesity |
OMIM:608320 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat... |
OMIM:274300 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Craniosynostosis |
ORPHA:88643 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
| Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
| Ck Syndrome |
|
Abnormal cortical bone morphology, Joint hypermobility |
OMIM:300831 |
| Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotri... |
OMIM:246700 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ... |
OMIM:166600 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Abnormal bone ossification, Epiphyseal stippling, Coarse metaphyseal trabecularization |
ORPHA:1952 |
| Osteogenesis Imperfecta, Type Xxii |
|
Multiple prenatal fractures, Recurrent fractures, Thin bony cortex, Reduced bone mineral density |
OMIM:619795 |
| Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
| Tyrosinemia Type 1 |
|
Splenomegaly, Rickets of the lower limbs |
ORPHA:882 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity, Finger joint hypermobility |
ORPHA:436141 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Self-mutilation, Polyphagia, Obesity, Aggressive behavior |
OMIM:616521 |
| Grant Syndrome |
|
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification |
ORPHA:2097 |
| Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
| Renal Glucosuria |
|
Polydipsia, Polyphagia, Glycosuria |
OMIM:233100 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero... |
OMIM:232700 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
| Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
| 14Q11.2 Microduplication Syndrome |
|
Aggressive behavior, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:261229 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Recurrent fractures, Limitation of joint mobility |
ORPHA:1486 |
| Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Schnitzler Syndrome |
|
Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Increased circulating IgM ... |
ORPHA:37748 |
| Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
| Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo... |
OMIM:611490 |
| Myosclerosis, Autosomal Recessive |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity, Neck joint contracture, Achilles ... |
OMIM:255600 |
| Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis ... |
ORPHA:73 |
| Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
| Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Lumbar hyperlordosis, Knee flexion contracture, Congenital foot contractures, Sc... |
OMIM:602484 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... |
ORPHA:293964 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis |
OMIM:300718 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Hypogonadotropic hypogonadism, Obesity |
ORPHA:177910 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia |
OMIM:620366 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ... |
ORPHA:276608 |
| Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Osteoporosis, Obesity |
OMIM:610628 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
| Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... |
ORPHA:2889 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
OMIM:616834 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... |
OMIM:600175 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Increased adipose tissue, Spinal rigidity, Kyphosis, Hyperlordosis, Scoliosis |
OMIM:617404 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Spond... |
OMIM:600561 |
| Pseudopseudohypoparathyroidism |
|
Osteoporosis, Obesity |
OMIM:612463 |
| Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... |
OMIM:609223 |
| Bardet-Biedl Syndrome 9 |
|
Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia |
OMIM:615986 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... |
ORPHA:3202 |
| Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Arthritis, Decreased circulating t... |
OMIM:300310 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Summitt Syndrome |
|
Tall stature, Camptodactyly of finger, Craniosynostosis, Obesity |
ORPHA:3210 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex |
OMIM:619638 |
| Weismann-Netter Syndrome |
|
Abnormal cortical bone morphology, Anemia |
ORPHA:3344 |
| X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Increased body mass index, Enlarged pituitary gland,... |
ORPHA:300373 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
| Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Hyperactivity, Inappropriate laughter, Obesity |
ORPHA:411515 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:600081 |
| Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Failure to thrive, Hypocholesterolemia |
ORPHA:71 |
| Rigid Spine Syndrome |
|
Hip contracture, Hyperlordosis, Spinal rigidity, Elbow flexion contracture, Hamstring contracture... |
ORPHA:97244 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... |
ORPHA:96180 |
| Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... |
OMIM:604367 |
| Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis, Obesity |
ORPHA:2206 |
| Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
| Anauxetic Dysplasia 2 |
|
Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin... |
OMIM:617396 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Joint hypermobility, Recurrent fractures, Generalized osteoporosis, Thin bony cortex |
OMIM:617952 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Increased circulating IgE level, Osteoporosis, Obes... |
ORPHA:3409 |
| Pseudopseudohypoparathyroidism |
|
Ectopic ossification, Obesity |
ORPHA:79445 |
| Senior-Loken Syndrome 9 |
|
Osteopenia, Obesity |
OMIM:616629 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:300942 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... |
OMIM:620044 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Morgagni-Stewart-Morel Syndrome |
|
Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis, Obesity |
ORPHA:77296 |
| Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
| Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol use, Agitation, Co... |
ORPHA:399 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Increased body weight, Abdominal obesity |
OMIM:615954 |
| Familial Renal Glucosuria |
|
Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria |
ORPHA:69076 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Tooth abscess, Rickets, Osteomalacia |
ORPHA:89937 |
| Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thrombocytopenia, ... |
OMIM:259700 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... |
ORPHA:98870 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia |
OMIM:604484 |
| Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
| 6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
| Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic anemia, Splenomeg... |
ORPHA:77297 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Scoliosis |
OMIM:619042 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosph... |
OMIM:241530 |
| Congenital Myopathy 16 |
|
Lumbar hyperlordosis, Flexion contracture, Scoliosis, Spinal rigidity |
OMIM:618524 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity |
OMIM:615987 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume |
OMIM:611590 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Joint contracture of the hand, Scoliosis, Hyperlordosis |
OMIM:611067 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Truncal obesity, Hyperglycemia, Type II diabetes mellitus, Abdominal obesity |
OMIM:615812 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
| Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Flexion contracture, Congenital foot contraction deformities, Hyperlordosis |
ORPHA:363454 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
| Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Lumbar hyperlordosis, Ankle flexion contracture |
ORPHA:280333 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... |
ORPHA:94086 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... |
OMIM:620211 |
| Bardet-Biedl Syndrome 5 |
|
Obesity |
OMIM:615983 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Obesity |
OMIM:619737 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
| Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Obesity |
ORPHA:85274 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... |
ORPHA:1782 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Decreased circulating total IgM, Osteopetrosis... |
OMIM:612301 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Steatorrhea, Failure to thrive, Hypocholesterolemia |
OMIM:607765 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
| Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
| Potocki-Lupski Syndrome |
|
Failure to thrive, Small for gestational age, Hypocholesterolemia |
OMIM:610883 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Camptodactyly of finger, Kyphosis, Coarse hair, Joint contracture of the 5th finger... |
ORPHA:1883 |
| Fanconi Renotubular Syndrome 3 |
|
Rickets |
OMIM:615605 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
| Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... |
ORPHA:2298 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Wide anterior fontanel, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
| Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol... |
OMIM:266510 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal bone structure, Coarse metaphy... |
ORPHA:93160 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... |
ORPHA:53 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... |
OMIM:617021 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Advanced ossification of carpal bones, Obesity, Truncal obesity, Joint hypermobi... |
OMIM:618363 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis, Decreased body weight |
OMIM:617306 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Premature a... |
ORPHA:98793 |
| Trichodental Dysplasia |
|
Brittle hair, Slow-growing hair, Odontodysplasia, Fine hair, Sparse hair |
OMIM:601453 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
| Perrault Syndrome 4 |
|
Disproportionate tall stature, Osteoporosis, Obesity |
OMIM:615300 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Obesity |
OMIM:620270 |
| Dent Disease 1 |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
| Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Premature a... |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Premature a... |
ORPHA:98754 |
| Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Increased circulating farnesol concentration, Decreased LDL cholest... |
OMIM:618156 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Premature a... |
ORPHA:177901 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Obesity, Osteoporosis, Recurrent fractures, Reduced bone mineral density |
ORPHA:2235 |
| Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Hyperlordosis |
OMIM:607088 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... |
ORPHA:2228 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Rickets, Osteomalacia |
OMIM:613388 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ... |
OMIM:615290 |
| Isolated Glycerol Kinase Deficiency |
|
Scoliosis, Hyperlordosis |
ORPHA:408 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
| Donohue Syndrome |
|
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Postprandial hyperglycemia, Hyp... |
OMIM:246200 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Obesity |
OMIM:615703 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Periapical tooth abscess |
ORPHA:3352 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Splenomegaly, Rickets |
OMIM:211600 |
| Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Obesity, Hypogonadism, Skin-picking, Polyphagia |
OMIM:615547 |
| Familial Anetoderma |
|
Lumbar hyperlordosis |
ORPHA:228277 |
| Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Ankle flexion contracture, Spinal rigidity, Hyperlordosis, Flexion contracture, Elbow flexion con... |
ORPHA:267 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased adiponectin level, Decreased s... |
ORPHA:79085 |
| Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
| Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa... |
ORPHA:77259 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:264700 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density |
ORPHA:157215 |
| Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to... |
OMIM:606407 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ... |
OMIM:277440 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2310 |
| Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
| Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Osteolytic defects of the phalanges... |
ORPHA:2484 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Camurati-Engelmann Disease |
|
Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,... |
OMIM:131300 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... |
ORPHA:289157 |
| Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Scoliosis, Hypoplastic ... |
OMIM:222600 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Joint hypermobility, Craniosynostosis, Obesity |
OMIM:619056 |
| Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Hypogonadism, Obesity |
OMIM:615981 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Obesity |
OMIM:300209 |
| Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Thoracic scoliosis, Achilles tendon contracture, Hyperlordosis |
ORPHA:62 |
| Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
| Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Enamel hypoplasia, Coarse hair, Hair shafts flattened at irregular interv... |
OMIM:261900 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia |
OMIM:175700 |
| Gm1-Gangliosidosis, Type Ii |
|
Splenomegaly, Sea-blue histiocytosis, Thin bony cortex, Joint stiffness |
OMIM:230600 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Failure to thrive, Hypoglycemia |
OMIM:615453 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Hyperlordosis |
ORPHA:2501 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
| Mehmo Syndrome |
|
Diabetes mellitus, Agitation, Obesity |
ORPHA:85282 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:616756 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Inguinal hernia, Fine hair |
ORPHA:1174 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia |
OMIM:612840 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide anterior fontanel, Abnormal cortical bone morphology |
OMIM:614886 |
| Mucolipidosis Type Iii |
|
Inguinal hernia, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:577 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Obesity |
ORPHA:3055 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo... |
ORPHA:848 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis |
OMIM:615761 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert... |
ORPHA:398079 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
| Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
| Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
| Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Self-injurious behavior, Agitation, Aggressive behavior, Large for gestational age |
OMIM:616116 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... |
OMIM:185000 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... |
ORPHA:228402 |
| Acrocapitofemoral Dysplasia |
|
Ovoid vertebral bodies, Hyperlordosis, Broad nail, Small nail, Scoliosis |
ORPHA:63446 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Hyperlordosis |
ORPHA:352470 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Delayed patellar ossification, Increased bone mineral density, Wide anterior fontanel, Abnormal b... |
ORPHA:163649 |
| 11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Truncal obesity, Osteoporosis |
OMIM:219080 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Keloid... |
ORPHA:2890 |
| Pachydermoperiostosis |
|
Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Arthritis, A... |
ORPHA:2796 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Truncal obesity, Osteoporosis |
OMIM:610475 |
| Naxos Disease |
|
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture |
ORPHA:34217 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem... |
ORPHA:79644 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Decreased adiponectin level, Decreased serum leptin |
OMIM:615238 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Elbow flexion contracture, Thoracic scoliosis, Lumbar hyperlordosis, Thoracic kyphosis |
ORPHA:206546 |
| Pseudohypoparathyroidism, Type Ia |
|
Subcutaneous ossification, Osteoporosis, Obesity |
OMIM:103580 |
| Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis |
OMIM:610313 |
| Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis |
OMIM:617054 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Radioulnar synostosis, Obesity, Craniosynostosis |
ORPHA:171839 |
| Nemaline Myopathy 5C, Autosomal Dominant |
|
Achilles tendon contracture, Scoliosis, Hyperlordosis |
OMIM:620389 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
| Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Kyphoscoliosis, Knee flexion contracture |
OMIM:610687 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
| Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Overweight, Recurrent hand flapping, Pica, Tall stature |
OMIM:615032 |
| Diastrophic Dysplasia |
|
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness |
ORPHA:628 |
| Adiposis Dolorosa |
|
Obesity |
OMIM:103200 |
| Xq27.3Q28 Duplication Syndrome |
|
Truncal obesity, Failure to thrive |
ORPHA:261483 |
| Bardet-Biedl Syndrome 16 |
|
Obesity |
OMIM:615993 |
| Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Kyphoscoliosis... |
ORPHA:536516 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets |
OMIM:560000 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail |
ORPHA:1882 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Advanced ossification of carpal bones, Obesity |
OMIM:614613 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Childhood-onset truncal |
