Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis |
OMIM:615269 |
Medial Condensing Osteitis Of The Clavicle |
|
Patchy reduction of bone mineral density, Elevated circulating C-reactive protein concentration, ... |
ORPHA:57196 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea, Osteopo... |
OMIM:300604 |
Xanthoma Disseminatum |
|
Osteolysis, Diabetes insipidus |
ORPHA:158003 |
X-Linked Intellectual Disability, Van Esch Type |
|
Absence of secondary sex characteristics, Coronal craniosynostosis, Type II diabetes mellitus, De... |
ORPHA:163976 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Generalized osteoporosis |
OMIM:608805 |
Hyaline Fibromatosis Syndrome |
|
Flexion contracture, Progressive flexion contractures, Osteolysis, Failure to thrive, Osteopenia,... |
OMIM:228600 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Osteopenia, Menorrhagia, Oligomenorrh... |
ORPHA:397685 |
Mu-Heavy Chain Disease |
|
Weight loss, Osteolysis, Nephropathy, Bence Jones Proteinuria, Osteoporosis |
ORPHA:100024 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteoporosis, Delayed puberty, Osteopenia |
OMIM:615271 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Decreased testicular size, Diabetes mellitus, Osteoporosis, Absence of pubertal development, Cryp... |
OMIM:610628 |
Isolated Glycerol Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Adrenocortical hypoplasia, Osteoporosis, Cryp... |
ORPHA:408 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Decreased fertility, Recurrent fractures, Absence of secondary sex characteristics, Increased cir... |
ORPHA:2410 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Osteoporosis, Primary amenorrhea |
OMIM:233300 |
X-Linked Intellectual Disability, Cilliers Type |
|
Absence of secondary sex characteristics, Coronal craniosynostosis, Decreased testicular size, Ma... |
ORPHA:163971 |
Idiopathic Hypercalciuria |
|
Abnormal circulating calcium concentration, Calcium oxalate nephrolithiasis, Parathormone-indepen... |
ORPHA:2197 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Type II diabetes mellitus, Gout, Increased LDL cholesterol concentration, Hypertriglyceridemia, O... |
OMIM:610947 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Camptodactyly, Primary amenorrhea, Hypoplasia of the uterus, Generalized joint laxity,... |
ORPHA:432 |
Immunodeficiency 12 |
|
Osteoporosis |
OMIM:615468 |
Extensor Tendons Of Finger Anomalies |
|
Camptodactyly of finger, Osteoporosis, Limitation of joint mobility |
ORPHA:3294 |
Paget Disease Of Bone 4 |
|
Osteolysis |
OMIM:606263 |
Familial Expansile Osteolysis |
|
Thin bony cortex, Pathologic fracture, Hydroxyprolinuria, Osteolysis |
OMIM:174810 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteoporosis, Delayed puberty, Osteopenia, Hypogonadism |
OMIM:615270 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Absence of pubertal development, Osteoporosis, Hypogonadism |
OMIM:615267 |
Obesity Due To Congenital Leptin Deficiency |
|
Primary amenorrhea, Hyperinsulinemia, Hypertriglyceridemia, Decreased serum estradiol, Absence of... |
ORPHA:66628 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Primary ... |
ORPHA:90796 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Winchester Syndrome |
|
Generalized osteoporosis, Carpal osteolysis, Osteolysis involving tarsal bones |
OMIM:277950 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed puberty, Primary amenorrh... |
OMIM:616033 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Primary amenorrhea, Hyperinsulinemia, Hypertriglyceridemia, Decreased serum estradiol, Absence of... |
ORPHA:179494 |
Forsythe-Wakeling Syndrome |
|
Decreased body weight, Osteoporosis, Nephrotic syndrome |
OMIM:613606 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Hypogonadism, Decreased testicular size, Small for gestational age, Decreased serum testosterone ... |
OMIM:300869 |
46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
Hyperostosis Frontalis Interna |
|
Irregular menstruation, Increased circulating prolactin concentration, Hyperostosis frontalis int... |
OMIM:144800 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Impotence, Hypogonadism, Abnormality of iron homeos... |
ORPHA:79230 |
Familial Isolated Hyperparathyroidism |
|
Primary hyperparathyroidism, Parathyroid adenoma, Hyperphosphaturia, Hypophosphatemia, Elevated c... |
ORPHA:99879 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Osteolysis, Foot acroosteolysis, Abnormal cortical bone morphology, Reduced bone mineral density |
ORPHA:970 |
Ramon Syndrome |
|
Osteolysis, Failure to thrive, Diabetes mellitus |
ORPHA:3019 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... |
ORPHA:90791 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Decreased testicular size, Small pituitary gland, Osteoporosis, Osteopenia, Cryptorchidism, Prima... |
OMIM:614880 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight, Maturity-onset diabetes of the young |
OMIM:613375 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g... |
OMIM:614841 |
Perrault Syndrome 4 |
|
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:615300 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:616030 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Bardet-Biedl Syndrome 11 |
|
Abnormality of the kidney, Obesity, Hypogonadism |
OMIM:615988 |
Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
Estrogen Resistance Syndrome |
|
Primary amenorrhea, Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex chara... |
ORPHA:785 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia, Gonadal dysgenesis, Neural tube defect |
OMIM:615041 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Abnormality of iron homeostasis, Weight loss, Stiff interphalangeal joints, Arthr... |
ORPHA:465508 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr... |
ORPHA:52901 |
Keratoderma Hereditarium Mutilans |
|
Hypogonadotropic hypogonadism, Osteolysis |
ORPHA:494 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia, Limitation of joint mobility, Metacarpal osteolysis, Osteolysi... |
ORPHA:2774 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Osteoporosis |
OMIM:204730 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Primary amenorrhea, Abnormal internal genitalia, Aplasia of the uterus,... |
OMIM:273250 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Decreased fertility, Recurrent fractures, Absence of secondary sex characteristics, Anterior hypo... |
ORPHA:2235 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... |
OMIM:610489 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Increased susceptibility to fractures, Hyperphosphaturia, Hypophosphatem... |
OMIM:612286 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Joint hyperflexibility |
ORPHA:2787 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Osteolysis |
ORPHA:2776 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Juvenile Hyaline Fibromatosis |
|
Progressive flexion contractures, Osteolysis, Joint stiffness |
ORPHA:2028 |
Rothmund-Thomson Syndrome, Type 1 |
|
Male hypogonadism, Hypothyroidism, Osteoporosis, Premature ovarian insufficiency |
OMIM:618625 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Increased susceptibility to fractures, Hyperphosphaturia, Hypophosphatem... |
OMIM:612287 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... |
OMIM:228300 |
49,Xyyyy Syndrome |
|
Primary gonadal insufficiency, Generalized joint laxity, Abnormality of the testis size, External... |
ORPHA:99330 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abnormality of the kidney, Failure to thrive, Delayed puberty, Osteopenia, Hyperlipidemia, Protei... |
ORPHA:369 |
Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
Prader-Willi syndrome (Type 1) |
|
Hypogonadism, Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Hypogonadism, Truncal obesity |
DECIPHER:53 |
49,Xxxyy Syndrome |
|
Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, External geni... |
ORPHA:261534 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... |
OMIM:308700 |
Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency, Obesity, Hypogonadism |
OMIM:615987 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Adrenal insufficiency, Small for gestational age, Adrenocortical hypoplasia... |
OMIM:307030 |
Spinocerebellar Ataxia 32 |
|
Cognitive impairment, Infertility, Azoospermia, Ataxia, Testicular atrophy, Cerebellar atrophy |
OMIM:613909 |
Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Non-obstructive azoospermia, Male infertility, Elevated circulating lu... |
OMIM:618086 |
Ovarian Dysgenesis 8 |
|
Hypoplastic labia majora, Eunuchoid habitus, Elevated circulating luteinizing hormone level, Prim... |
OMIM:618187 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Osteomalacia, Hypophosphatemia, Coarse metaphyseal trabecularization, Osteol... |
ORPHA:93160 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614897 |
Ollier Disease |
|
Osteolysis, Joint stiffness, Precocious puberty |
ORPHA:296 |
Spinocerebellar Ataxia Type 32 |
|
Cognitive impairment, Azoospermia, Testicular atrophy, Male infertility, Cerebellar atrophy, Prog... |
ORPHA:276183 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Obesity, Craniosynostosis, Hypoalbuminemia |
ORPHA:88643 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... |
OMIM:618841 |
Pseudohypoparathyroidism, Type Ic |
|
Hypothyroidism, Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH ad... |
OMIM:612462 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Primary amenorrhea, Gonadoblastoma, Abnormality of female external genitalia, Decreased serum est... |
ORPHA:168563 |
Rosaï-Dorfman Disease |
|
Osteolysis |
ORPHA:158014 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hemolytic-uremic syndrome, Joint laxity, Elevated circulating creatine kinase concentration, Fail... |
OMIM:614727 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Obesity |
ORPHA:1078 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Hypoplasia of penis, Cryptorchidism, Obesity, Micropenis |
ORPHA:85274 |
Gorham-Stout Disease |
|
Osteomyelitis, Abnormal bone ossification, Osteolysis involving bones of the upper limbs, Osteoly... |
ORPHA:73 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Decreased serum leptin, Primary amenorrhea, Obesity, Mic... |
OMIM:614962 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, P... |
ORPHA:2232 |
Pseudohypoparathyroidism, Type Ia |
|
Hypothyroidism, Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH ad... |
OMIM:103580 |
Morgagni-Stewart-Morel Syndrome |
|
Hypothyroidism, Hyperuricemia, Hyperostosis frontalis interna, Obesity, Diabetes mellitus, Abnorm... |
ORPHA:77296 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Micropenis, Osteoporosis, Decreased testicular size |
OMIM:614838 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Decreased circulating... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Adrenocorticotropic hormone excess, Decreased circulating... |
ORPHA:289548 |
Maffucci Syndrome |
|
Recurrent fractures, Neoplasm of the parathyroid gland, Parathyroid adenoma, Neoplasm of the adre... |
ORPHA:163634 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... |
OMIM:136300 |
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Osteopenia |
OMIM:615266 |
Summitt Syndrome |
|
Obesity, Craniosynostosis |
OMIM:272350 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Increased susceptibility to fractures, Premature thelarche, Arthritis, Nodular goiter, Osteolysis... |
ORPHA:371428 |
Paget Disease Of Bone 3 |
|
Osteolysis, Patchy osteosclerosis, Fractures of the long bones |
OMIM:167250 |
Delayed Puberty, Self-Limited |
|
Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru... |
OMIM:619613 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micronodular ad... |
OMIM:610475 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Diabetes mellitus, Ectopic ossification |
OMIM:602475 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Multiple joint contractures, Decreased serum estradiol, Premature ovarian insufficiency, Small fo... |
ORPHA:2959 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortis... |
OMIM:615830 |
Bardet-Biedl Syndrome 5 |
|
External genital hypoplasia, Obesity, Micropenis, Hypogonadism |
OMIM:615983 |
Aromatase Deficiency |
|
Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes mellitus, Eunuchoid ha... |
ORPHA:91 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Decreased serum insulin-like growth factor 1, Truncal obesity |
ORPHA:140941 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Hypogonadism, Hypoplasia of penis, Abnormality of t... |
ORPHA:3409 |
Osteosarcoma |
|
Osteolysis, Pathologic fracture, Weight loss |
ORPHA:668 |
Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
Perrault Syndrome 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Osteoporosis, Primary amenorrhea |
OMIM:233400 |
Functioning Gonadotropic Adenoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Increased circulating gonadotropin ... |
ORPHA:91348 |
Diabetes Insipidus, Neurohypophyseal |
|
Central diabetes insipidus, Decreased circulating osteocalcin level, Osteopenia |
OMIM:125700 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Attention deficit hyperactivity disorder, Ventriculomegaly |
OMIM:618709 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Osteoporosis, Cryptorchidism |
ORPHA:2958 |
Pseudopseudohypoparathyroidism |
|
Obesity, Pseudohypoparathyroidism, Osteoporosis |
OMIM:612463 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Hypogonadism, Stage 5 chronic kidney disease, Osteopenia, Nephronop... |
OMIM:616629 |
Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... |
ORPHA:3464 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Ectopic ossification, Obesity, Elevated circulating parathyroid hormone level,... |
ORPHA:79445 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:219080 |
Bardet-Biedl Syndrome 16 |
|
Hypogonadism, Renal dysplasia, Stage 5 chronic kidney disease, External genital hypoplasia, Renal... |
OMIM:615993 |
Tenosynovial Giant Cell Tumor |
|
Osteolysis, Joint stiffness, Localized osteoporosis, Limitation of joint mobility |
ORPHA:66627 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... |
OMIM:616000 |
Hydrocephalus, Autosomal Dominant |
|
Sagittal craniosynostosis, Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Ane Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Multiple jo... |
ORPHA:157954 |
Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Proximal tubulopathy, Recurrent fractures, Osteomalacia, Glycosuria, Hyp... |
OMIM:613388 |
Prieto Syndrome |
|
Osteoporosis, Cryptorchidism |
OMIM:309610 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity, Finger joint hypermobility |
ORPHA:436141 |
Spermatogenic Failure, X-Linked, 4 |
|
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... |
OMIM:301077 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Irregular menstruation, Increased susceptibility to fractures, Hyperaldosteronism, Increased circ... |
ORPHA:189427 |
Short Stature, Dauber-Argente Type |
|
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... |
OMIM:619489 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Abnormality of the urinary system, Premature ovarian insufficiency, Decreased serum testosterone ... |
ORPHA:101006 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Obesity, Hypercholesterolemia |
OMIM:608320 |
Desmoid Tumor |
|
Osteolysis, Abnormality of the upper urinary tract, Limitation of joint mobility, Hydronephrosis |
ORPHA:873 |
Infantile Myofibromatosis |
|
Abnormality of the kidney, Neoplasm of the pancreas, Limitation of joint mobility, Osteolysis, Hy... |
ORPHA:2591 |
Gnathodiaphyseal Dysplasia |
|
Thickened cortex of long bones, Osteopenia, Mandibular osteomyelitis, Recurrent fractures |
ORPHA:53697 |
Rhyns Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Reduced circulat... |
OMIM:602152 |
Congenital Disorder Of Glycosylation, Type Iid |
|
Hydrocephalus, Dandy-Walker malformation, Elevated circulating creatine kinase concentration |
OMIM:607091 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Increased susceptibility to fractures, Urinary bladder sphincter dysfunction, Elevated circulatin... |
ORPHA:52430 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Weight loss, Arthritis, Osteolysis, Craniofacial osteosclerosis, Hyperostosis, Ele... |
ORPHA:324964 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Epiphyseal Chondrodysplasia, Miura Type |
|
Tall stature, Abnormal circulating beta-C-terminal telopeptide concentration, Osteopenia, Increas... |
OMIM:615923 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Hyperphosphaturia,... |
ORPHA:157215 |
Hemochromatosis, Type 1 |
|
Increased serum iron, Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Increased ci... |
OMIM:235200 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis |
ORPHA:2786 |
Paget Disease Of Bone 2, Early-Onset |
|
Increased susceptibility to fractures, Hydroxyprolinuria, Osteolysis, Osteosclerosis of the ulna,... |
OMIM:602080 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Hyperpituitarism, Osteolysis, Testicular neoplasm, Ovarian cyst, Fibrous dyspla... |
ORPHA:249 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... |
OMIM:614839 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation, Orbital craniosynostosis |
ORPHA:1538 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... |
OMIM:616950 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Type I diabetes mellitus, Rickets, Failure to thrive, Polyuria, Osteoporosis |
OMIM:560000 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Fused cervical vertebrae, Osteolysis, Periostitis, Osteopenia, Elevated circulatin... |
OMIM:612852 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Shawl scrotum, Bilateral cryptorchidism, Joint laxity, T... |
OMIM:305400 |
Bardet-Biedl Syndrome 18 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Obesity |
OMIM:615995 |
Hutchinson-Gilford Progeria Syndrome |
|
Osteolysis, Generalized osteoporosis |
OMIM:176670 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Type II diabetes mellitus, Obesity, Hypertrigl... |
ORPHA:71529 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ... |
ORPHA:398079 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Type II diabetes mellitus, Infertility, Azoospermia, Oligospermia, Increase... |
OMIM:615703 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Osteoporosis |
OMIM:619971 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Irregular menstruation, Increased susceptibility to fractures, Increased circulating cortisol lev... |
ORPHA:189439 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
Warburg Micro Syndrome 1 |
|
External genital hypoplasia, Joint hypermobility, Failure to thrive, Cryptorchidism, Osteoporosis |
OMIM:600118 |
Spermatogenic Failure 2 |
|
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... |
OMIM:108420 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Hypogonadotropic hypogonadism, Osteoporosis |
ORPHA:48431 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Xq27.3Q28 Duplication Syndrome |
|
Hypogonadism, Premature ovarian insufficiency, Decreased testicular size, Failure to thrive, Trun... |
ORPHA:261483 |
Nestor-Guillermo Progeria Syndrome |
|
Flexion contracture, Limited elbow movement, Osteolysis, Decreased serum leptin, Failure to thriv... |
OMIM:614008 |
Classic Hodgkin Lymphoma |
|
Osteolysis, Weight loss |
ORPHA:391 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Obesity |
OMIM:615991 |
Adenohypophysitis |
|
Hyposthenuria, Increased circulating prolactin concentration, Gonadotropin deficiency, Decreased ... |
ORPHA:95512 |
Gaucher Disease Type 1 |
|
Increased bone mineral density, Hematuria, Osteolysis, Delayed puberty, Osteopenia, Proteinuria, ... |
ORPHA:77259 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration, Osteopenia |
OMIM:619256 |
Edinburgh Malformation Syndrome |
|
Failure to thrive, Neonatal hyperbilirubinemia, Hydrocephalus |
OMIM:129850 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Osteoporosis |
ORPHA:79301 |
Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Osteoporosis of vertebrae, Decreased circu... |
ORPHA:95619 |
Mccune-Albright Syndrome |
|
Precocious puberty, Abnormal testis morphology, Hyperphosphaturia, Hyperplasia of the Leydig cell... |
ORPHA:562 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Azoo... |
OMIM:614837 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Elevated circulating pa... |
OMIM:603233 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Osteoporosis |
OMIM:618234 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... |
ORPHA:261529 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Small for gestational age, Type I... |
OMIM:274300 |
Panhypophysitis |
|
Gonadotropin deficiency, Impotence, Decreased female libido, Decreased circulating cortisol level... |
ORPHA:95513 |
Bardet-Biedl Syndrome 4 |
|
Hypogonadism, External genital hypoplasia, Abnormality of the kidney, Renal cyst, Cryptorchidism,... |
OMIM:615982 |
Premature Aging Syndrome, Okamoto Type |
|
Diabetes mellitus, Osteoporosis |
OMIM:601811 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:98754 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Precocious puberty, Flexion contracture, Decreased te... |
OMIM:616222 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Osteogenesis Imperfecta, Type Xxii |
|
Abnormal circulating calcium concentration, Thin bony cortex, Recurrent fractures, Decreased circ... |
OMIM:619795 |
Spermatogenic Failure 77 |
|
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... |
OMIM:620103 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Aplasia/Hypoplasia of the testes, Hypoplasia of penis, Obesity, Cryptorchidism |
ORPHA:3055 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein concentration |
ORPHA:251912 |
46,Xx Gonadal Dysgenesis |
|
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Osteop... |
ORPHA:243 |
Hyperparathyroidism 4 |
|
Hypercalcemia, Osteopenia, Primary hyperparathyroidism, Nephrolithiasis, Parathyroid carcinoma |
OMIM:617343 |
Classic Galactosemia |
|
Decreased fertility in females, Secondary amenorrhea, Premature ovarian insufficiency, Oligomenor... |
ORPHA:79239 |
Kallmann Syndrome With Spastic Paraplegia |
|
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... |
OMIM:308750 |
Osteoporosis-Pseudoglioma Syndrome |
|
Increased susceptibility to fractures, Isosexual precocious puberty, Joint laxity, Osteopenia, Os... |
ORPHA:2788 |
Pituitary Adenoma 4, Acth-Secreting |
|
Increased circulating ACTH level, Hypokalemia, Pituitary adenoma, Oligomenorrhea, Abdominal obesi... |
OMIM:219090 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Urinary urgency, Decreased serum testosterone concentration |
OMIM:609195 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity, Cryptorchidism |
OMIM:309585 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:98793 |
Juvenile Paget Disease |
|
Hyperuricemia, Recurrent fractures, Coarse metaphyseal trabecularization, Cranial hyperostosis, O... |
ORPHA:2801 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Osteolysis, Joint stiffness |
ORPHA:137834 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Male hypogonadism, Diabetes mellitus, Cryptorchidism, Hypertriglyceridemia, Joint contracture, Os... |
OMIM:615381 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypogonadism, Small for gestational age, Failure to thrive, Neonatal hyperbilirubinemia, Truncal ... |
ORPHA:73272 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Delayed ossification of carpal bones, Decreased body weight, Reduced b... |
OMIM:618392 |
Prolactinoma |
|
Impotence, Anterior hypopituitarism, Decreased female libido, Secondary growth hormone deficiency... |
ORPHA:2965 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:177901 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia, Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Hypoplasia of ... |
ORPHA:181393 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea... |
ORPHA:90795 |
Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Hypophosphatemia, Hypocalcemia, Osteopenia |
OMIM:619073 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperphosphatemia, Hyperuricemia, Recurrent fractures, Increased bone mineral density, Ankylosis,... |
OMIM:239000 |
1Q21.1 Microduplication Syndrome |
|
Failure to thrive, Hydrocephalus, Attention deficit hyperactivity disorder, Arthrogryposis multip... |
ORPHA:250994 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Truncal obesity |
OMIM:240900 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulati... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulati... |
ORPHA:71526 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypermethioninemia, Methioninuria, Hyperhomocystinemia, Limitation of joint mobility, Disproporti... |
OMIM:236200 |
Dermatoosteolysis, Kirghizian Type |
|
Osteolysis, Tarsal synostosis, Osteoarthritis |
ORPHA:1657 |
Camurati-Engelmann Disease, Type 2 |
|
Knee flexion contracture, Hip contracture, Hypogonadism, Disproportionate tall stature, Delayed p... |
OMIM:606631 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Osteoporosis |
ORPHA:71267 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Impotence, Neoplasm of ... |
ORPHA:652 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Hypospadias, Osteopenia, Hypercalcemia, Cr... |
OMIM:614732 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... |
OMIM:611555 |
Central Precocious Puberty |
|
Isosexual precocious puberty, Premature thelarche, Overgrowth, Increased circulating gonadotropin... |
ORPHA:759 |
Richards-Rundle Syndrome |
|
Ketonuria, Joint stiffness, Hypergonadotropic hypogonadism, Reduced bone mineral density |
ORPHA:1399 |
Sialidosis Type 2 |
|
Nephropathy, Flexion contracture, Osteoporosis |
ORPHA:87876 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Small for gestational age, Failure to thrive, Osteopenia, Slender build |
ORPHA:50811 |
Mehmo Syndrome |
|
External genital hypoplasia, Hypoplasia of penis, Diabetes mellitus, Cryptorchidism, Obesity, Mic... |
ORPHA:85282 |
Diffuse Cutaneous Systemic Sclerosis |
|
Flexion contracture, Arthritis, Osteolysis, Dyspareunia, Oliguria, Renal insufficiency |
ORPHA:220393 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno... |
ORPHA:398073 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Delayed puberty, Hypospadias, Hypogonadotropic hypogonadism, Obesity |
ORPHA:141333 |
H Syndrome |
|
Recurrent fractures, Hypogonadism, Decreased testicular size, Abnormality of the kidney, Enlarged... |
ORPHA:168569 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
Kallmann Syndrome |
|
Decreased fertility, Recurrent fractures, Abnormal morphology of female internal genitalia, Anter... |
ORPHA:478 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... |
ORPHA:1772 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Acroosteolysis of distal phalanges (feet), Calcinosis, Osteolysis, Delayed puberty, Osteolytic de... |
ORPHA:90154 |
Bruck Syndrome 1 |
|
Knee flexion contracture, Increased susceptibility to fractures, Hip contracture, Elbow flexion c... |
OMIM:259450 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Decreased body weight, Hyperinsulinemic hypoglycemia, A... |
ORPHA:2298 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteoporosis, Osteopenia, Fractures of the long bones |
ORPHA:319195 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Joint hypermobility, Hypospadias, Delayed puberty, Micropenis, Osteopenia, Bicoronal synostosis, ... |
OMIM:619718 |
Beta-Thalassemia Intermedia |
|
Increased susceptibility to fractures, Proximal tubulopathy, Hypothyroidism, Abnormality of iron ... |
ORPHA:231222 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
African Iron Overload |
|
Abnormal thyroid morphology, Increased circulating cortisol level, Abnormality of adrenal morphol... |
ORPHA:139507 |
Felty Syndrome |
|
Weight loss, Recurrent urinary tract infections, Arthritis, Synovitis, Limitation of joint mobili... |
ORPHA:47612 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, External genital hypoplasia, Renal hypoplasia, Renal insufficiency, Obesity, Hydron... |
OMIM:615996 |
Xp21 Deletion Syndrome |
|
Adrenal insufficiency, Joint laxity, Primary adrenal insufficiency, Elevated circulating creatine... |
ORPHA:261476 |
Hall-Riggs Mental Retardation Syndrome |
|
Failure to thrive, Osteoporosis |
OMIM:234250 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Primary amenorrhea, Increased serum testosterone level, Bilateral cryp... |
ORPHA:99429 |
Werner Syndrome |
|
Hypogonadism, Diabetes mellitus, Elevated hemoglobin A1c, Hypertriglyceridemia, Osteoporosis, Red... |
OMIM:277700 |
Prader-Willi Syndrome |
|
Central hypothyroidism, Precocious puberty, Hypoplastic labia majora, Small pituitary gland, Prim... |
ORPHA:739 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Delayed ossification of carpal bones, Reduced bone mineral density |
OMIM:617974 |
Aggressive Systemic Mastocytosis |
|
Osteolysis, Pathologic fracture, Osteoporosis, Weight loss |
ORPHA:98850 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Maturity-onset diabetes of the young, Joint hypermobility, Hypercholesterolem... |
ORPHA:254531 |
Idiopathic Juvenile Osteoporosis |
|
Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Decreased testicular size, Type I diabetes mellitus, Breast aplasia, Eunuchoid habitus, Elevated ... |
ORPHA:3044 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Decreased fertility, Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Hypoplas... |
ORPHA:2234 |
Nasu-Hakola Disease |
|
Ventriculomegaly, Hydrocephalus, Bone cyst, Disinhibition, Abnormal adipose tissue morphology, Re... |
ORPHA:2770 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Joint contracture of the hand, Small for gestation... |
OMIM:214150 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Large for gestational age, Ricket... |
OMIM:616026 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Secondary amenorrhea, Decreased testicular size, Type II diabetes mellitus, Pol... |
ORPHA:3085 |
Erdheim-Chester Disease |
|
Diabetes insipidus, Osteomyelitis, Weight loss, Dysuria, Increased bone mineral density, Osteolys... |
ORPHA:35687 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity, Osteoarthritis |
ORPHA:2206 |
Hernández-Aguirre Negrete Syndrome |
|
Delayed puberty, Obesity |
ORPHA:2139 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Obesity, Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus, Elevated circulating alpha-aminoadipic semialdehyde concentration |
OMIM:266100 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... |
OMIM:619755 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Hydrocephalus, Elbow flexion contracture |
OMIM:619470 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hypogonadism, Decreased testicular size, Failure to thrive, Decreased serum testosterone concentr... |
OMIM:201100 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis |
OMIM:241100 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Bifid scrotum, Perineal hypospadias, Hypoplasia of the vagina, True hermaphroditism... |
OMIM:278850 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Hypogonadism, Abnormal testis morphology, Type II diabetes mellitus, Hypoplasia... |
ORPHA:791 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Infantile Systemic Hyalinosis |
|
Camptodactyly of finger, Increased susceptibility to fractures, Recurrent fractures, Osteomalacia... |
ORPHA:2176 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
Pachydermoperiostosis |
|
Osteomyelitis, Arthritis, Abnormal cortical bone morphology, Limitation of joint mobility, Osteol... |
ORPHA:2796 |
Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Glycosuria, Abnormality of the kidne... |
ORPHA:552 |
Parathyroid Carcinoma |
|
Nephroblastoma, Primary hyperparathyroidism, Pancreatic adenocarcinoma, Uterine leiomyoma, Thyroi... |
ORPHA:143 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Flexion contracture, Precocious puberty, Small pituitary gland, Primary a... |
ORPHA:398069 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Osteoporosis, Recurrent fractures |
OMIM:126550 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Advanced ossification of carpal bones, Diabetes mellitus, Hypospadias, Cryptorchidism, Congenital... |
OMIM:614613 |
Ruijs-Aalfs Syndrome |
|
Elbow flexion contracture, Decreased body weight, Osteoporosis, Hypogonadism |
OMIM:616200 |
Hyperzincemia With Functional Zinc Depletion |
|
Osteoporosis, Increased serum zinc |
OMIM:601979 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Obesity, Hyperlipidemia |
ORPHA:329249 |
Kleeblattschaedel |
|
Hydrocephalus, Craniosynostosis |
OMIM:148800 |
Polyembryoma |
|
Irregular menstruation, Isosexual precocious puberty, Macroorchidism, Increased serum testosteron... |
ORPHA:180229 |
Spermatogenic Failure 14 |
|
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... |
OMIM:615842 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Irregular menstruation, Hyperphosphatemia, Precocious puberty, Hyperthyroidism, Recurrent fractur... |
ORPHA:457059 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Hypercholesterolemia, Hypertriglyceridemia, Renal tubular acidosis, Eleva... |
ORPHA:264580 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... |
ORPHA:90794 |
Osteogenesis Imperfecta, Type Xii |
|
Osteoporosis, Generalized osteoporosis, Recurrent fractures, Hyperextensibility of the finger joints |
OMIM:613849 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Flexion contracture, Decreased circulating dehydroepiandrosterone-sulfate co... |
ORPHA:95699 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Failure to thrive, Osteoporosis, Elevated circulating phytanic acid concentr... |
OMIM:266510 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Flexion contracture, Acroosteolysis of distal phalanges (feet), Breast aplasia, Limitation of joi... |
ORPHA:90153 |
Thymic Neuroendocrine Tumor |
|
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... |
ORPHA:97289 |
Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Delayed puberty, Polycystic ovaries,... |
OMIM:615363 |
Borjeson-Forssman-Lehmann Syndrome |
|
Delayed puberty, Micropenis, Cryptorchidism, Obesity, Hypoplasia of the prostate |
OMIM:301900 |
Laurence-Moon Syndrome |
|
Type II diabetes mellitus, Hypoplasia of penis, Cryptorchidism, Renal insufficiency, Obesity, Dis... |
ORPHA:2377 |
Neural Tube Defects, Susceptibility To |
|
Multiple lipomas, Myelomeningocele, Anencephaly, Hydrocephalus, Spina bifida occulta, Lipoma |
OMIM:182940 |
Adrenocortical Carcinoma |
|
Increased serum estradiol, Hyperaldosteronism, Increased circulating cortisol level, Adrenocortic... |
ORPHA:1501 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Obesity, Hypogonadism, Renal dysplasia |
OMIM:615985 |
Propionic Acidemia |
|
Hyperglycinemia, Failure to thrive, Increased level of hippuric acid in urine, Hyperammonemia, Os... |
OMIM:606054 |
Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Hydrocephalus, Attention deficit hyperactivity disorder, Frontal... |
ORPHA:261102 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephroblastoma, Primary hyperparathyroidism, Pancreatic adenocarcinoma, Uterine leiomyoma, Parath... |
ORPHA:99880 |
Bardet-Biedl Syndrome 2 |
|
External genital hypoplasia, Diabetes mellitus, Obesity, Hypogonadism |
OMIM:615981 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Failure to thrive, Megacystis, Abnormality of the urinary system, ... |
ORPHA:977 |
Bruck Syndrome |
|
Osteoporosis, Joint stiffness, Recurrent fractures, Arthrogryposis multiplex congenita |
ORPHA:2771 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Camptodactyly, Osteoporosis |
OMIM:616006 |
Mehmo Syndrome |
|
Decreased response to growth hormone stimulation test, Small for gestational age, Male hypogonadi... |
OMIM:300148 |
Macrosomia Adiposa Congenita |
|
Obesity, Large for gestational age, Adrenocortical adenoma |
OMIM:248100 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Decreased testicular size, Bilateral cryptorchidism, Renal agenesis, Osteoporosis, Delayed pubert... |
ORPHA:2326 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Rickets of the lower limbs, Sparse bone trab... |
OMIM:600785 |
Cranioectodermal Dysplasia |
|
Osteoporosis, Craniosynostosis, Joint hyperflexibility |
ORPHA:1515 |
Osteogenesis Imperfecta, Type Xiii |
|
Enuresis nocturna, Recurrent fractures, Decreased body weight, Increased bone mineral density, Jo... |
OMIM:614856 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Parathyroid hyperp... |
OMIM:617994 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia, Reduced bone mineral density |
ORPHA:172 |
47,Xyy Syndrome |
|
Macroorchidism, Cerebellar dysplasia, Increased serum testosterone level, Dysgenesis of the cereb... |
ORPHA:8 |
Summitt Syndrome |
|
Camptodactyly of finger, Obesity, Craniosynostosis, Tall stature |
ORPHA:3210 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Precocious puberty, Small for gestational age, Maturity-onset diabetes of t... |
ORPHA:96184 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Hypercholesterolemia, Hypertriglyceridemia, Renal tubular acidosis, Eleva... |
ORPHA:79240 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Large for gestational age, Hypogonadism |
OMIM:617119 |
Gonadoblastoma |
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Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... |
ORPHA:206484 |
Partial Androgen Insensitivity Syndrome |
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Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
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Symmetric polyarthritis, Synovitis, Limitation of joint mobility, Osteopenia, Elevated circulatin... |
ORPHA:85435 |
Cortisone Reductase Deficiency 1 |
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Infertility, Precocious puberty, Obesity, Oligomenorrhea |
OMIM:604931 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
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Nephroblastoma, Gonadoblastoma, Streak ovary, Abnormality of the uterus, Nephropathy, Hypospadias... |
OMIM:194072 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
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Osteoporosis, Osteopenia |
ORPHA:529665 |
Werner Syndrome |
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Decreased fertility, Hypogonadism, Thyroid carcinoma, Abnormal testis morphology, Increased bone ... |
ORPHA:902 |
Gaucher Disease Type 3 |
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Increased susceptibility to fractures, Increased bone mineral density, Hematuria, Osteolysis, Del... |
ORPHA:77261 |
Glycogen Storage Disease Ia |
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Hyperuricemia, Enlarged kidney, Gout, Delayed puberty, Decreased glomerular filtration rate, Hype... |
OMIM:232200 |
Carcinoma Of Esophagus |
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Obesity, Weight loss |
ORPHA:70482 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Synostosis of carpal bones, Osteoporosis, Limitation of joint mobility, Osteoarthritis |
ORPHA:93351 |
Gnathodiaphyseal Dysplasia |
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Increased susceptibility to fractures, Osteomyelitis, Osteopenia, Diaphyseal cortical sclerosis |
OMIM:166260 |
Woodhouse-Sakati Syndrome |
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Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... |
OMIM:241080 |
Insulin-Like Growth Factor I Deficiency |
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Decreased serum insulin-like growth factor 1, Decreased body weight, Elevated circulating growth ... |
OMIM:608747 |
Bardet-Biedl Syndrome 7 |
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Obesity, Hypogonadism |
OMIM:615984 |
Duchenne And Becker Muscular Dystrophy |
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Elevated circulating creatine kinase concentration, Joint stiffness, Reduced bone mineral density |
ORPHA:262 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
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Osteolysis, Ankylosis |
ORPHA:659 |
Mycetoma |
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Osteomyelitis, Painless fractures due to injury, Abnormal bone structure, Bone cyst, Pathologic f... |
ORPHA:2583 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
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Renal agenesis, Radioulnar synostosis, Hypospadias, Cryptorchidism, Renal hypoplasia, Obesity, Cr... |
ORPHA:171839 |
Galactosemia |
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Decreased fertility, Hypergalactosemia, Increased level of galactitol in plasma, Secondary amenor... |
ORPHA:352 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
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Decreased fertility, Obesity, Hypogonadism, Abnormal testis morphology |
ORPHA:2233 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
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Hydroureter, Large for gestational age, Renal cyst, Ureteral stenosis, Osteopenia, Nephrocalcinos... |
OMIM:615398 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Recurrent fractures, Enlarged kidney, Membranoproliferative glomerulonephritis, Increased blood u... |
ORPHA:251004 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
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Camptodactyly of finger, Camptodactyly of toe, Osteoarthritis of the elbow, Bone cyst, Osteoporos... |
ORPHA:2848 |
Hypophosphatemic Rickets And Hyperparathyroidism |
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Renal phosphate wasting, Parathyroid hyperplasia, Hypophosphatemia, Rickets, Elevated circulating... |
OMIM:612089 |
Menkes Disease |
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Osteoporosis, Decreased circulating ceruloplasmin concentration, Joint laxity |
OMIM:309400 |
48,Xxyy Syndrome |
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Decreased testicular size, Type II diabetes mellitus, Infertility, Radioulnar synostosis, Hypopla... |
ORPHA:10 |
Tsh-Secreting Pituitary Adenoma |
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Enlarged pituitary gland, Impotence, Decreased female libido, Euthyroid hyperthyroxinemia, Increa... |
ORPHA:91347 |
Porphyria, Congenital Erythropoietic |
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Joint contracture of the hand, Red urine, Pink urine, Osteolysis, Osteopenia, Pathologic fracture... |
OMIM:263700 |
Prader-Willi Syndrome |
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Precocious puberty, Adrenal insufficiency, Primary amenorrhea, Abdominal obesity, External genita... |
OMIM:176270 |
Prolactin Deficiency With Obesity And Enlarged Testes |
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Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Intellectual Developmental Disorder, X-Linked 91 |
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Obesity |
OMIM:300577 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Increased bone mineral density, Hypophosphatemia, Rickets, Hypophosphatemic rickets, Craniosynost... |
OMIM:241520 |
Progressive Pseudorheumatoid Dysplasia |
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Camptodactyly of finger, Joint contracture of the hand, Joint stiffness, Osteoporosis, Osteoarthr... |
OMIM:208230 |
Fanconi Renotubular Syndrome 1 |
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Aminoaciduria, Osteomalacia, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Renal ... |
OMIM:134600 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
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Enuresis, Obesity, Failure to thrive in infancy |
OMIM:613670 |
Adenocarcinoma Of The Esophagus |
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Obesity |
ORPHA:99976 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
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Osteolytic defects of the phalanges of the hand, Arthritis, Limitation of joint mobility, Disprop... |
OMIM:259100 |
Refractory Celiac Disease |
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Weight loss, Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Osteoporosis, Hypoa... |
ORPHA:398063 |
Thrombocytopenia 6 |
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Osteoporosis, Myelofibrosis |
OMIM:616937 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Large for gestational age, Increased circulating free fatty acid level, Abnormal circulating insu... |
ORPHA:293964 |
Hepatoerythropoietic Porphyria |
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Abnormal circulating porphyrin concentration, Purple urine, Red urine, Osteolysis, Osteopenia, Re... |
ORPHA:95159 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
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Hydrocephalus |
ORPHA:1008 |
Amish Lethal Microcephaly |
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Organic aciduria, Osteoporosis, Decreased skull ossification, Limitation of joint mobility |
ORPHA:99742 |
Aicardi-Goutieres Syndrome 9 |
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Hypothyroidism, Weight loss, Recurrent urinary tract infections, Stage 5 chronic kidney disease, ... |
OMIM:619487 |
Kennedy Disease |
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Decreased fertility, Type II diabetes mellitus, Testicular atrophy, Erectile dysfunction |
ORPHA:481 |
Hypophosphatemic Rickets, Autosomal Dominant |
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Renal phosphate wasting, Osteomalacia, Hypophosphatemia, Rickets, Hypophosphatemic rickets |
OMIM:193100 |
Gamma-Heavy Chain Disease |
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Osteolysis, Rheumatoid arthritis |
ORPHA:100026 |
Lipodystrophy, Familial Partial, Type 5 |
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Irregular menstruation, Increased C-peptide level, Diabetic ketoacidosis, Decreased serum leptin,... |
OMIM:615238 |
Dandy-Walker Syndrome |
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Dilated fourth ventricle, Hydrocephalus |
OMIM:220200 |
Abdominal Obesity-Metabolic Syndrome 1 |
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Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
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Abdominal obesity |
OMIM:605572 |
Axial Osteomalacia |
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Renal cyst, Increased bone mineral density, Elevated circulating creatine kinase concentration, O... |
OMIM:109130 |
Methylcobalamin Deficiency Type Cble |
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Hemolytic-uremic syndrome, Glomerulopathy, Hyperhomocystinemia, Hypomethioninemia, Failure to thr... |
ORPHA:2169 |
Dent Disease 1 |
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Renal phosphate wasting, Thin bony cortex, Aminoaciduria, Proximal tubulopathy, Recurrent fractur... |
OMIM:300009 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Hyperinsulinemia, Flexion contracture, Elevated circulating creatine kinase concentration, Failur... |
OMIM:613327 |
Lysinuric Protein Intolerance |
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Hyperlysinuria, Ornithinuria, Glomerulonephritis, Hypercholesterolemia, Argininuria, Renal fibros... |
ORPHA:470 |
Glycogen Storage Disease Ib |
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Hyperuricemia, Enlarged kidney, Gout, Delayed puberty, Decreased glomerular filtration rate, Panc... |
OMIM:232220 |
Fanconi Renotubular Syndrome 3 |
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Aminoaciduria, Glycosuria, Hyperphosphaturia, Rickets, Low-molecular-weight proteinuria, Elevated... |
OMIM:615605 |
Spermatogenic Failure, X-Linked, 2 |
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Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Indolent Systemic Mastocytosis |
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Osteoporosis |
ORPHA:98848 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Hyperinsulinemia, Flexion contracture, Acroosteolysis of distal phalanges (feet), Stage 5 chronic... |
OMIM:608612 |
Familial Dysautonomia |
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Glomerulopathy, Recurrent fractures, Abnormality of the kidney, Osteolysis, Hyponatremia, Renal i... |
ORPHA:1764 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Intellectual Developmental Disorder, X-Linked 97 |
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Obesity |
OMIM:300803 |
Laron Syndrome |
|