| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur |
OMIM:600121 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Postnatal growth retardation, Short stature, Decreased response to growth ... |
OMIM:615925 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Failure to thrive, Dense metaphyseal bands, Clavicular sclerosis, Metaphyseal dysplasia, Increase... |
OMIM:615198 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification, Diabetes mellitus |
OMIM:602475 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Obesity, Hyperinsulinemia |
OMIM:618406 |
| Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... |
ORPHA:411593 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas... |
OMIM:619598 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Fasting hyperinsulinemia, Decreased fibular diameter, Postnatal growth retardation, A... |
OMIM:619489 |
| Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased ... |
ORPHA:95619 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration |
ORPHA:2843 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... |
OMIM:609968 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
| Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Structural fo... |
ORPHA:564003 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Abdominal ob... |
OMIM:618160 |
| Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro... |
ORPHA:314811 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp... |
OMIM:601820 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Dorsocervical fat pad, Joint hypermobility, Delayed puberty, Hyperinsulinemic ... |
OMIM:616033 |
| Buschke-Ollendorff Syndrome |
|
Lower limb asymmetry, Joint stiffness, Osteopoikilosis, Connective tissue nevi, Flexion contracture |
OMIM:166700 |
| Hip Dysplasia, Beukes Type |
|
Abnormal epiphysis morphology, Broad femoral neck, Abnormality of the epiphysis of the femoral he... |
ORPHA:2114 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Functioning Gonadotropic Adenoma |
|
Ovarian cyst, Oligozoospermia, Osteopenia, Decreased response to growth hormone stimulation test,... |
ORPHA:91348 |
| Isolated Growth Hormone Deficiency, Type Iv |
|
Severe short stature, Decreased response to growth hormone stimulation test, Decreased serum insu... |
OMIM:618157 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... |
ORPHA:2235 |
| Mueller-Weiss Syndrome |
|
Tibiofibular diastasis, Equinovarus deformity, Sclerosis of foot bone, Tibial torsion, Positional... |
ORPHA:566943 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... |
OMIM:300888 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... |
ORPHA:166119 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ... |
ORPHA:1879 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Small pituitary gland, Central adrenal insufficiency, Reduced subcutaneous adipose tissue, Hypogo... |
OMIM:612079 |
| Fibular Hemimelia |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... |
ORPHA:93323 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... |
OMIM:262600 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... |
ORPHA:263458 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis, Proportionate short stature |
DECIPHER:76 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... |
ORPHA:79299 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Centr... |
ORPHA:71526 |
| Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615842 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ... |
ORPHA:293964 |
| Short Stature Due To Partial Ghr Deficiency |
|
Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty, Short stature, Growt... |
ORPHA:314802 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, ... |
OMIM:606762 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Failure to thrive, Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circul... |
OMIM:613038 |
| Melorheostosis |
|
Atypical scarring of skin, Lower limb asymmetry, Failure to thrive, Joint stiffness, Ectopic ossi... |
ORPHA:2485 |
| Adenohypophysitis |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:95512 |
| Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal posterior pituitary morphogenesis, Decrea... |
ORPHA:95513 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Increased ... |
ORPHA:71529 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Failure to thrive, Hypoglycemia |
OMIM:606528 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Large for gestational age, Excessive insulin response to gl... |
ORPHA:324575 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Osteopenia, Decreased testicular size, Cryptorchidism, Primary amenorrhea,... |
OMIM:614880 |
| Ane Syndrome |
|
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... |
ORPHA:157954 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... |
OMIM:147891 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Glucose intolerance, Gout, Type II diabetes mellitus, Hy... |
OMIM:610947 |
| Spermatogenic Failure 13 |
|
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... |
OMIM:615841 |
| Non-Functioning Pituitary Adenoma |
|
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... |
ORPHA:91349 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, R... |
ORPHA:53697 |
| Spermatogenic Failure, X-Linked, 4 |
|
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... |
OMIM:301077 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... |
ORPHA:171706 |
| Isolated Growth Hormone Deficiency, Type Ii |
|
Severe short stature, Decreased response to growth hormone stimulation test, Pituitary dwarfism, ... |
OMIM:173100 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... |
ORPHA:3329 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Pedal edema |
ORPHA:75325 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Arthralgia of the hip, Broad femoral neck, Hypopl... |
OMIM:607078 |
| Isolated Growth Hormone Deficiency, Type Ib |
|
Decreased response to growth hormone stimulation test, Short stature, Reduced circulating growth ... |
OMIM:612781 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti... |
ORPHA:3152 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Osteopenia, Growth delay, Ectopic anterior pituitary gland, Decrease... |
ORPHA:90695 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Po... |
ORPHA:453533 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Abnormal epiphysis morphology, Abnormal metaphysis morphology, Bowing of the long bones, Metaphys... |
ORPHA:2501 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Dentin Dysplasia |
|
Abnormal dental enamel morphology, Increased bone mineral density |
ORPHA:1653 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Delayed puberty, Primary am... |
OMIM:612702 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Delay... |
OMIM:617974 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Growth delay, Increased circulating prolactin concentration, Decreased circulating T4 concentrati... |
ORPHA:99832 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissu... |
ORPHA:280356 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Short stature, Obesity, Hyperinsulinemia |
ORPHA:329249 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u... |
ORPHA:3416 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Elevated circulating parathyroid hor... |
OMIM:600785 |
| X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Reduced bone mineral density, Decreased body weight, Brachydactyly, Short femoral neck, Small for... |
OMIM:618392 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Elevated circulating parathyroid hormone level, Craniofacial osteoscle... |
OMIM:122860 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Decreased skull ossification, Abnormal cardiac septum morphology, Thrombocyt... |
ORPHA:3319 |
| Gangliocytoma |
|
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor... |
ORPHA:251937 |
| Sheehan Syndrome |
|
Central adrenal insufficiency, Decreased serum estradiol, Breast hypoplasia, Obesity, Decreased f... |
ORPHA:91355 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Pituitary Hormone Deficiency, Combined, 3 |
|
Decreased response to growth hormone stimulation test, Pituitary dwarfism, Gonadotropin deficienc... |
OMIM:221750 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad... |
OMIM:617719 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Excess... |
ORPHA:276580 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenocorticotrop... |
ORPHA:231720 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormal cortical bone morphology, Limb undergrowth, Abnormal limb bone morphology, Short stature... |
ORPHA:2204 |
| Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
| Pituitary Carcinoma |
|
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... |
ORPHA:300385 |
| Pituicytoma |
|
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... |
ORPHA:251623 |
| Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h... |
OMIM:147630 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Osteopenia, Failure to thrive, Dense metaphyseal bands, Slender build, Slender long bones with na... |
ORPHA:50811 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... |
ORPHA:2790 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Precocious puberty, Small pituitary gland, Osteopenia, Central hypothyroidi... |
ORPHA:398079 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Cortical sclerosis of the iliac wing, Erlenmeyer flask deformity of the femurs, Osteopetrosis, De... |
OMIM:611497 |
| Pituitary Dwarfism With Large Sella Turcica |
|
Decreased response to growth hormone stimulation test, Hypothyroidism, Growth delay, Pituitary dw... |
OMIM:262710 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemic seizures, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycem... |
OMIM:620211 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight, Maturity-onset diabetes of the young |
OMIM:613375 |
| Glycogen Storage Disease Vi |
|
Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri... |
OMIM:232700 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Delayed epiphyseal ossification, Hip osteoarthritis, Epiphyseal dysplasia, Broad femoral neck, Ir... |
OMIM:132400 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Small pituitary gland, Decreased serum estradiol, Osteopenia, Growth delay, Absence of secondary ... |
ORPHA:2232 |
| Prader-Willi syndrome (Type 1) |
|
Hypogonadism, Truncal obesity |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Hypogonadism, Truncal obesity |
DECIPHER:53 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... |
OMIM:166740 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Excess... |
ORPHA:276575 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia... |
OMIM:262190 |
| Estrogen Resistance |
|
Osteopenia, Hyperinsulinemia, Increased serum estradiol, Glucose intolerance, Increased circulati... |
OMIM:615363 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Anterior pi... |
ORPHA:226307 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Short toe, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Broad foot, Brachydacty... |
ORPHA:3085 |
| Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism, Short ... |
OMIM:300123 |
| Osteogenesis Imperfecta, Type Xxiii |
|
Insulin resistance, Osteopenia, Hip dislocation, Shallow acetabular fossae, Genu valgum, Broad fe... |
OMIM:620639 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
| Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Limitation of joint mobility, Short t... |
ORPHA:90650 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Increased subcutaneous truncal adipose tissue, Contractures of the large join... |
ORPHA:2457 |
| Developmental And Epileptic Encephalopathy 108 |
|
Small pituitary gland |
OMIM:620115 |
| Prader-Willi Syndrome |
|
Premature adrenarche, Xerostomia, Central adrenal insufficiency, Cryptorchidism, Primary amenorrh... |
ORPHA:739 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity, Growth delay |
ORPHA:140941 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... |
ORPHA:1988 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Severe short stature, Hypoglycemia, Decreased serum insulin-like growth factor 1, Reduced circula... |
OMIM:262400 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo... |
ORPHA:79106 |
| Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Postnatal growth r... |
OMIM:248370 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, ... |
OMIM:166260 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Postnatal growth ret... |
OMIM:616113 |
| Panhypopituitarism, X-Linked |
|
Panhypopituitarism, Pituitary dwarfism |
OMIM:312000 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Diabetes mellitus, Lipoatrophy |
ORPHA:79084 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit... |
OMIM:620303 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Enlarged metaphyses, Hypoplasia of the odontoid process, Limitation of joint mobility, Finger swe... |
ORPHA:93284 |
| Ziegler-Huang Syndrome |
|
Hypogonadism, Intrauterine growth retardation, Cryptorchidism, Elevated circulating follicle stim... |
OMIM:620501 |
| Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Obesity, Hyperinsulinemia, Ty... |
OMIM:619326 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Obesity, Short stature, Cryptorchidism |
ORPHA:85274 |
| Flynn-Aird Syndrome |
|
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... |
OMIM:136300 |
| Obesity And Hypopigmentation |
|
Obesity, Hyperinsulinemia |
OMIM:620195 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Radial metaphyseal irregularity, Genu varum, Obesity, Femoral bowing, Short long bone, Metaphysea... |
ORPHA:174 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Precocious puberty, Small pituitary gland, Osteopenia, Central hypothyroidism, Xerostomia, Failur... |
ORPHA:398069 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Decreased fertilit... |
ORPHA:2410 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Micrognathia, Glucose intol... |
OMIM:608612 |
| Obesity Due To Sim1 Deficiency |
|
Obesity, Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Obesity, Abnormal hypothalamus morphology,... |
OMIM:614963 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Osteopenia, Ectopic anterior pituitary ... |
ORPHA:95494 |
| Estrogen Resistance Syndrome |
|
Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Absence of... |
ORPHA:785 |
| Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to... |
OMIM:602080 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia |
ORPHA:35878 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia, Adrenal insufficiency, Pituitary dwarfism, Severe postnatal growth retardation, Hyp... |
OMIM:262700 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Aplasia/hypoplasia involving bones of the extremities, Short femoral neck, Abnormal foot morpholo... |
ORPHA:94068 |
| Septooptic Dysplasia |
|
Decreased response to growth hormone stimulation test, Diabetes insipidus, Short stature, Anterio... |
OMIM:182230 |
| Cog2-Cdg |
|
Small pituitary gland |
ORPHA:435934 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
| Mehmo Syndrome |
|
Male hypogonadism, Decreased response to growth hormone stimulation test, Obesity, Birth length l... |
OMIM:300148 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland |
OMIM:617395 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of the elbow, Limitation... |
ORPHA:2619 |
| Craniopharyngioma |
|
Growth delay, Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesi... |
ORPHA:54595 |
| Congenital Generalized Lipodystrophy |
|
Insulin resistance, Precocious puberty in females, Failure to thrive, Long foot, Hyperinsulinemia... |
ORPHA:528 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Decreased serum testosterone concentration, Decreased testicular size, Hypogonadism, Intrauterine... |
OMIM:300869 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,... |
OMIM:226900 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Insulin-... |
OMIM:608600 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen... |
OMIM:607616 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Flared metaphysis, Decreased fibular diameter, Intrauterine growth retardation, Micro... |
OMIM:616897 |
| Osteogenesis Imperfecta, Type Xiii |
|
Dentinogenesis imperfecta, Increased bone mineral density, Wide distal femoral metaphysis, Umbili... |
OMIM:614856 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
| Diastrophic Dysplasia |
|
Neonatal short-limb short stature, Ulnar deviation of finger, Hypoplastic cervical vertebrae, Abn... |
ORPHA:628 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp... |
ORPHA:98754 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, ... |
ORPHA:1423 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F |
ORPHA:46532 |
| Forsythe-Wakeling Syndrome |
|
Low-set ears, Decreased body weight, Thrombocytopenia, Osteoporosis, Macrotia |
OMIM:613606 |
| Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Postnatal growth retar... |
ORPHA:254516 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Large for gestational age, Excessiv... |
ORPHA:276556 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Obesity, Increased LDL cholesterol concentration, Type II diabetes mellitus, ... |
OMIM:615703 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Re... |
OMIM:612526 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp... |
ORPHA:98793 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Pes cavus, Short stature, Increased bone mineral density, Mild intraute... |
OMIM:616943 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Broad femoral neck, Failure to thrive, Abnormal metaphysis morphology, Flat capital f... |
ORPHA:157965 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Large for gestational age, Hyperinsulinemia, Hypophosphatemic rickets, Hypoketotic hy... |
ORPHA:263455 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp... |
ORPHA:177904 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Decreased ser... |
ORPHA:67045 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... |
ORPHA:91351 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Decreased circulating T4 concentration, Central adrenal insufficiency, Cryp... |
ORPHA:177901 |
| Pituitary Apoplexy |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:95613 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... |
OMIM:616516 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... |
ORPHA:91347 |
| Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity |
OMIM:615987 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Sensorineural hearing impairment, Radioulnar synostosis, Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Increased serum leptin, Obesity, Insulin resistance, Hyperinsulinemia |
OMIM:617885 |
| Joubert Syndrome 38 |
|
Ectopic posterior pituitary, Small pituitary gland, Decreased response to growth hormone stimulat... |
OMIM:619476 |
| Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Hypogonadism, Decreased testicular size, Intrauterine growth retardation, Cryp... |
ORPHA:261483 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Obesity, Cryptorchidism, Hernia of the abdominal wall, Aplasia/Hypoplasia of the testes, Short st... |
ORPHA:3055 |
| Mody |
|
Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-... |
ORPHA:552 |
| Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Obesity |
OMIM:615983 |
| Atelosteogenesis Type Ii |
|
Hypoplastic cervical vertebrae, Equinovarus deformity, Micrognathia, Genu valgum, Broad phalanx, ... |
ORPHA:56304 |
| Non-Acquired Isolated Growth Hormone Deficiency |
|
Delayed puberty, Abdominal obesity, Short stature, Growth delay, Anterior hypopituitarism |
ORPHA:631 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Anti-t... |
OMIM:274300 |
| Joubert Syndrome 26 |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Central hypothyroidism... |
OMIM:616784 |
| Bonnemann-Meinecke-Reich Syndrome |
|
Decreased response to growth hormone stimulation test, Short stature |
ORPHA:1261 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
|
Dysphagia, Hyperactivity, Impulsivity |
OMIM:620448 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... |
ORPHA:440354 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hyperactivity, Ataxia |
OMIM:615924 |
| Intermediate Osteopetrosis |
|
Erlenmeyer flask deformity of the femurs, Cortical sclerosis, Osteomyelitis, Increased susceptibi... |
ORPHA:210110 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... |
OMIM:612447 |
| Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Obesity, Cryptorchidism, Adrenocorticotrop... |
OMIM:615926 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Cortical sclerosis, Pathologic fracture, Postnatal growth retardation, Osteo... |
OMIM:620366 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity, Cryptorchidism |
OMIM:309585 |
| Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Abnormality of carpal bone ossification, Failure to thrive, Slender long bones with n... |
OMIM:608154 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Failure to thrive in infancy, Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Meningioma |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Impotence, Hypothalamic hypothyro... |
ORPHA:2495 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Oliver-Mcfarlane Syndrome |
|
Severe short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Hypo... |
OMIM:275400 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Hypogonadism, Cryptorchidism, Anterior pituitary hy... |
OMIM:615849 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Abnormal pelvic girdle bone morphology, Thickened cortex of long bones, Generalized osteosclerosi... |
OMIM:607634 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Osteoporosis, Primar... |
OMIM:615300 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density |
OMIM:241520 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:66628 |
| Donohue Syndrome |
|
Precocious puberty, Postprandial hyperglycemia, Long foot, Postnatal growth retardation, Intraute... |
OMIM:246200 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
| Septo-Optic Dysplasia Spectrum |
|
Obesity, Cryptorchidism, Hypohidrosis, Maternal diabetes, Anterior pituitary hypoplasia, Short st... |
ORPHA:3157 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Metaphyseal cupping, Elevated circulating parathyroid hormone level, Flared metaphysi... |
OMIM:619073 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
| Pseudohypoparathyroidism Type 1C |
|
Pituitary resistance to thyroid hormone, Ectopic ossification, Elevated circulating parathyroid h... |
ORPHA:79444 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res... |
ORPHA:91354 |
| Hyperprolinemia, Type I |
|
Hyperprolinemia, Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:239500 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Gait ataxia, Hypertriglyceridemi... |
ORPHA:363400 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m... |
ORPHA:970 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia |
OMIM:608898 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... |
ORPHA:179494 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
| Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome |
|
Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Sho... |
OMIM:620651 |
| Fg Syndrome Type 1 |
|
Small pituitary gland, Umbilical hernia, Slender build, Cryptorchidism, Inguinal hernia, Progress... |
ORPHA:93932 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
| Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight, Anorexia |
ORPHA:99852 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Rhizomelia, Dentinogenesis imperfecta, Micromelia, Micrognathia, Genu valgum, Fibular... |
OMIM:613848 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
| Pseudohypoparathyroidism Type 1B |
|
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... |
ORPHA:94089 |
| Ivic Syndrome |
|
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... |
OMIM:147750 |
| Glycine Encephalopathy 1 |
|
Hyperglycinemia, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Obesity, Decreased ... |
OMIM:609734 |
| Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Insulin resistance, Abnormal circulating leptin concentration, Insuli... |
ORPHA:2298 |
| Monosomy 5P |
|
Small hand, Microretrognathia, Finger syndactyly, Recurrent fractures, Joint hypermobility, Abnor... |
ORPHA:281 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Flared metaphysis, Pathologic fracture, Osteomyelitis, Femur fracture, Osteope... |
OMIM:259700 |
| Smith-Magenis Syndrome |
|
Abnormal nerve conduction velocity, Head-banging, Hearing impairment, Abnormal heart morphology, ... |
OMIM:182290 |
| Bangstad Syndrome |
|
Type I diabetes mellitus, Deviation of finger, Increased circulating cortisol level, Abnormality ... |
ORPHA:1227 |
| Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Reduced bone miner... |
ORPHA:1508 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hearing impairment, Hypertriglycer... |
OMIM:144300 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... |
ORPHA:3344 |
| Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis |
OMIM:125440 |
| Pycnodysostosis |
|
Small hand, Acromelia, Hypoplastic iliac wing, Micrognathia, Short foot, Coronal craniosynostosis... |
ORPHA:763 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Decreased response to growth hormone stimulation test, Hypogonadism, Cryptorchidism, Hypothyroidi... |
ORPHA:3363 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Low-set ears, Failure to thrive, Joint hypermobility, Elevated circulating creatine kinase concen... |
OMIM:614727 |
| Chondrodysplasia, Blomstrand Type |
|
Micromelia, Flared metaphysis, Micrognathia, Short ribs, Generalized osteosclerosis, Advanced oss... |
OMIM:215045 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Ataxia-Pancytopenia Syndrome |
|
Ataxia, Acute myelomonocytic leukemia, Decreased nerve conduction velocity, Pancytopenia, Dysmetr... |
OMIM:159550 |
| Atelosteogenesis Type I |
|
Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Talipes equinovarus, Lim... |
ORPHA:1190 |
| Pelviscapular Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Elbow flexion contracture, Me... |
ORPHA:93333 |
| Ophthalmomandibulomelic Dysplasia |
|
Mesomelia, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Limitation of joint mobi... |
ORPHA:2741 |
| Albers-Schönberg Osteopetrosis |
|
Short distal phalanx of finger, Mandibular osteomyelitis, Abnormal epiphysis morphology, Osteomye... |
ORPHA:53 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Diabetes mellitus |
OMIM:608320 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Short stature, Short 5th metacarpal, Hyperinsulinemia |
ORPHA:66518 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Failure to thrive, Increased bone mineral density, Ankylosis, Short humerus, Lateral ... |
OMIM:239000 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
| Kyphomelic Dysplasia |
|
Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humer... |
OMIM:211350 |
| Atelosteogenesis, Type I |
|
Radial bowing, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Aplasia/Hypoplasia of... |
OMIM:108720 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Slender finger, Hemiatrophy of upper limb, Micrognathia, Delayed patellar ossification, Abnormal ... |
ORPHA:163649 |
| Hypoalphalipoproteinemia, Primary, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:604091 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Secondary growth hormone deficiency, Adrenocorticotropin deficient adrenal insufficiency, Increas... |
ORPHA:91350 |
| Galactokinase Deficiency |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia, Small for gestational age, Hypergonadotropic h... |
ORPHA:79237 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Micrognathia, Clinodactyly of the 5th finger, Decreased body weight, Osteopetrosis, Short stature... |
OMIM:617306 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Sensorineural hearing impairment, Lipodystrophy, Loss of subcutaneous adipose... |
OMIM:615381 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:610539 |
| Achondroplasia |
|
Rhizomelia, Radial bowing, Flared metaphysis, Femoral bowing, Limited elbow extension, Trident ha... |
OMIM:100800 |
| Pseudohypoparathyroidism Type 1A |
|
Pituitary resistance to thyroid hormone, Ectopic ossification, Elevated circulating parathyroid h... |
ORPHA:79443 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Poems Syndrome |
|
Increased circulating prolactin concentration, Sclerosis of hand bone, Hypogonadism, Sclerosis of... |
ORPHA:2905 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fractures o... |
OMIM:166600 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Ventricular septal defect, Lethargy, Megaloblast... |
ORPHA:49827 |
| Werner Syndrome |
|
Insulin resistance, Small hand, Chondrocalcinosis, Hypogonadism, Slender build, Joint stiffness, ... |
ORPHA:902 |
| Lipase Deficiency, Combined |
|
Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia |
OMIM:246650 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Osteogenesis Imperfecta, Type Xxii |
|
Slender long bone, Decreased circulating osteocalcin level, Bowing of the long bones, Pseudoarthr... |
OMIM:619795 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Ankle flexion contracture, Abnormal circulating creatine kinase concentration, Sensorineural hear... |
OMIM:617519 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Obesity, Primary amenorrhea, Decreased serum leptin |
OMIM:614962 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular... |
ORPHA:85184 |
| Bardet-Biedl Syndrome 16 |
|
Hypogonadism, Obesity, Short stature |
OMIM:615993 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... |
ORPHA:93356 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Obesity, Short stature, Abnormality of the hypothalamus-pituitary axis, Hypergonadot... |
ORPHA:2183 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Rhizomelia, Short tibia, Failure to thrive, Sandal gap, Hypoglycemia, Short humerus, Short ribs, ... |
OMIM:607143 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Adrenocorticotropin deficient adrenal insufficiency, Failure to thrive, Decreased response to gro... |
ORPHA:293978 |
| Majeed Syndrome |
|
Failure to thrive, Osteomyelitis, Increased susceptibility to fractures, Synovitis, Cachexia, Wei... |
ORPHA:77297 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Lipodystrophy, Hypertriglyceridemia, Lip... |
OMIM:613877 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Abnormal dental enamel morpholog... |
ORPHA:1782 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
| Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures |
OMIM:615066 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Limitation of joint mobility, Abnormal epiphysis morphology, Premature epimetaphyseal... |
ORPHA:85435 |
| Metaphyseal Anadysplasia 2 |
|
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... |
OMIM:613073 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function |
ORPHA:231393 |
| Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Small pituitary gland |
OMIM:614195 |
| Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Micromelia, Joint stiffness, Femoral bowing, Bowing of the long bones, Abnormal... |
ORPHA:1860 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
| Malaria |
|
Gait imbalance, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Thromb... |
ORPHA:673 |
| Perlman Syndrome |
|
Hyperinsulinemia, Micrognathia, Femoral hernia, Inguinal hernia |
ORPHA:2849 |
| Prolactinoma |
|
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... |
ORPHA:2965 |
| Fish-Eye Disease |
|
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
| Ovarian Dysgenesis 8 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Ele... |
OMIM:618187 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| X-Linked Hypophosphatemia |
|
Cellulitis, Limitation of joint mobility, Genu valgum, Bowing of the long bones, Genu varum, Vert... |
ORPHA:89936 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Failure to thrive, Cardiomyopathy, Anorexia, Splenomegaly, Hyperammonemia, Letharg... |
ORPHA:79312 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Failure to thrive, Hypoglycemia, Delayed puberty, Short stature, Osteoporosis, Growth... |
ORPHA:369 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... |
OMIM:228300 |
| Biemond Syndrome Type 2 |
|
Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Short stature |
ORPHA:141333 |
| Camurati-Engelmann Disease |
|
Slender build, Sclerosis of skull base, Genu valgum, Reduced subcutaneous adipose tissue, Delayed... |
OMIM:131300 |
| Pseudopseudohypoparathyroidism |
|
Obesity, Pseudohypoparathyroidism, Enamel hypoplasia, Short stature, Osteoporosis |
OMIM:612463 |
| Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Lower limb asymmetry, Hypoglycemia, Postnatal growth retardation, Polydactyly, Decreased body wei... |
ORPHA:231140 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Osteopenia, Failure to thrive, Hyperinsulinemia, Lipodystrophy, Osteoporosis,... |
OMIM:613327 |
| Thalidomide Embryopathy |
|
Insulin resistance, Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humeru... |
ORPHA:3312 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Failure to thrive, Clinodactyly, Hypoglycemia, Hypogonadism, Postnatal growth... |
ORPHA:73272 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Hyperostosis, ... |
OMIM:144750 |
| Dysosteosclerosis |
|
Short diaphyses, Osteopenia, Disproportionate short stature, Broad femoral neck, Absent paranasal... |
OMIM:224300 |
| Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Postnatal growth retardation, Intrauterine growth retardation, Decreased body weight,... |
OMIM:608747 |
| Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Pituitary hypothyroidism, Anterior pituitary hypoplasia |
OMIM:619983 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Hypoglycemia, Cardiomyopathy, Hearing impairment, Thrombocytopenia |
ORPHA:67048 |
| Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsuline... |
ORPHA:79086 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity, Decreased fertility, Abnormal testis morphology, Short stature |
ORPHA:2233 |
| Endocardial Fibroelastosis |
|
Anterior hypopituitarism, Cryptorchidism |
ORPHA:2022 |
| Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Fractured rib, Osteopenia, Metaphyseal spurs, Umbilical hernia, Femoral bowi... |
OMIM:618188 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Optic atrophy, Recurrent fractures, Splenomegaly, Reticulocytosis, Osteopetrosis, Thrombocytopeni... |
OMIM:611490 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... |
OMIM:229070 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea |
OMIM:233300 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymmetry, Osteomalacia, Ricket... |
ORPHA:289176 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Limitation of joint mobility, Radial bowing, Hypoplastic cervical vertebrae, Premature osteoarthr... |
ORPHA:93307 |
| Orthostatic Hypotension 1 |
|
Reduced circulating prolactin concentration, Retrograde ejaculation |
OMIM:223360 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Failure to thrive, Splenomegaly, Osteopetrosis, Thrombocytopenia, Anemia, Facial p... |
OMIM:615085 |
| Epiphyseal Dysplasia, Baumann Type |
|
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Joint hypermob... |
OMIM:610797 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm... |
OMIM:619755 |
| Beta-Thalassemia |
|
Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal hemoglobin, Thrombocytopen... |
ORPHA:848 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Temple Syndrome |
|
Maturity-onset diabetes of the young, Recurrent otitis media, Obesity, Joint hypermobility, Hyper... |
OMIM:616222 |
| 12Q14 Microdeletion Syndrome |
|
Failure to thrive, Intrauterine growth retardation, Micrognathia, Short stature, Clinodactyly of ... |
ORPHA:94063 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Diaphyseal dysplasia, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
| Prader-Willi Syndrome |
|
Small hand, Clinodactyly, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Short foot, S... |
OMIM:176270 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... |
OMIM:612462 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... |
ORPHA:158057 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Intrauterine growth retardation, Obesity |
OMIM:620270 |
| Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Failure to thrive, Hypertriglyceridemia |
OMIM:614480 |
| 15Q24 Microdeletion Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Postnatal growth retard... |
ORPHA:94065 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... |
OMIM:151660 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Congenital hypothyroidism, Obesity |
ORPHA:88643 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Thiamine-responsive ... |
OMIM:249270 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Short stature, Obesity |
OMIM:619058 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Absence of pubertal development, Decreased testicular size, Obesity, Cryptorchidism, Hypogonadotr... |
OMIM:610628 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Short stature, Obesity, Delayed puberty, Cryptorchidism |
OMIM:301900 |
| Specific Granule Deficiency 2 |
|
