Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
Vitamin D-Dependent Rickets, Type 3 |
|
Bowing of the legs, Metaphyseal cupping, Hypophosphatemia, Hypocalcemia, Elevated circulating par... |
OMIM:619073 |
Hypophosphatemic Bone Disease |
|
Bowing of the legs, Hypophosphatemia, Osteomalacia, Rickets |
OMIM:146350 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... |
OMIM:241520 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Infantile hypercalcemia, Parathyroid adenoma, Elevated circulating parathyroid ... |
ORPHA:99879 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Osteopenia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insuff... |
OMIM:613388 |
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Secondary hyperparathyroidism, Abnormality of the parathyroid gland, Abnormal circulating calcium... |
ORPHA:140286 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Failure to thrive, Disproportionate short-limb short stature, Short femur, Short humerus, Rhizome... |
OMIM:600121 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma |
OMIM:608266 |
Hyperparathyroidism 4 |
|
Nephrolithiasis, Parathyroid carcinoma, Osteopenia, Primary hyperparathyroidism, Hypercalcemia |
OMIM:617343 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Short stature, Elevated circ... |
OMIM:612089 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
Pseudohypoparathyroidism, Type Ii |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemia, Hyperphos... |
OMIM:203330 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Osteomalacia... |
OMIM:134600 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Failure to thrive, Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Hyperparathyroidism, Ne... |
OMIM:239199 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Osteomalacia, Rickets |
OMIM:193100 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal... |
OMIM:307800 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis |
OMIM:126250 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Bone cyst, Proteinuria, Renal insufficiency, Hypercalcemia, Glomerulopathy, Hyperparathyroidism |
ORPHA:2668 |
Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
Alopecia Areata 2 |
|
Alopecia totalis, Alopecia universalis, Patchy alopecia, Alopecia of scalp |
OMIM:610753 |
Cerebellar Ataxia And Ectodermal Dysplasia |
|
Ataxia, Sparse hair, Alopecia |
OMIM:212835 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Bone cyst, Hypophosphatemia, Hypocalcemia, Abnormal hip bone morphology, Sho... |
ORPHA:93160 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Elevated circulating alkaline phosphatase concentration, Elevated circulating parathyroid hormone... |
OMIM:264700 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Growth delay, Cortical thickening of long bone diaphyses, Hypocalcemia, Postnatal growth retardat... |
ORPHA:93324 |
Renal Tubular Acidosis Iii |
|
Nephrolithiasis, Hypokalemia, Osteomalacia, Bicarbonate-wasting renal tubular acidosis, Nephrocal... |
OMIM:267200 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Brachydactyly, Hyperphosphatemia, O... |
OMIM:603233 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphatemia, Hypocalcemic se... |
OMIM:618883 |
Vitamin D-Dependent Rickets, Type 2A |
|
Elevated circulating alkaline phosphatase concentration, Elevated circulating parathyroid hormone... |
OMIM:277440 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Congenital hypoparathyroidism, Hypercalciuria, Hyperphosphatemia, P... |
ORPHA:2239 |
Hypercholanemia, Familial 1 |
|
Failure to thrive, Increased serum bile acid concentration, Rickets, Steatorrhea |
OMIM:607748 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Severe short stature, Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral n... |
OMIM:619598 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrolithiasis, Hypokalemia, Hypocalcemia, Osteomalacia, Pathologic fracture, Distal renal tubul... |
OMIM:179800 |
Hypotrichosis Simplex |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes |
ORPHA:55654 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... |
OMIM:615605 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated circulating parathyroid hormone level, Femoral bowing, Thin bony cortex, Subperiosteal b... |
ORPHA:289157 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Elevated circulating alkaline phosphatase concentration, Femoral bowing, Thin bony cortex, Renal ... |
OMIM:241530 |
Alopecia Universalis Congenita |
|
Alopecia universalis, Absent eyebrow, Absent pubic hair, Absent eyelashes, Absent axillary hair |
OMIM:203655 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Femoral bowing, Thin bony cortex, Proximal tubulopathy, Renal phosphate wasting, Metaphyseal irre... |
OMIM:300554 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Craniosynostosis, Micropenis, Osteopenia, ... |
OMIM:614732 |
Hypophosphatemic Rickets |
|
Elevated circulating alkaline phosphatase concentration, Elevated circulating parathyroid hormone... |
ORPHA:437 |
Dent Disease 1 |
|
Femoral bowing, Glycosuria, Thin bony cortex, Proximal tubulopathy, Stage 5 chronic kidney diseas... |
OMIM:300009 |
Hypotrichosis 5 |
|
Sparse eyelashes, Alopecia, Thin eyebrow, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
Hypotrichosis 4 |
|
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair |
OMIM:146550 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hyperphosphate... |
ORPHA:94090 |
Satoyoshi Syndrome |
|
Amenorrhea, Alopecia universalis, Malabsorption, Hypoplasia of the uterus, Alopecia, Short statur... |
OMIM:600705 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypophosphatemic rickets, Hypop... |
ORPHA:157215 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Fai... |
OMIM:600081 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Nephrolithiasis, Pancreatitis, Parathyroid adenoma, Hypocalciuria, Hypercalciuria, Hypercalcemia,... |
OMIM:145980 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc... |
OMIM:616963 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Eunuchoid habitus, Cleft palate, Osteopenia, Depressed nasal bridge, Primary amenorrhe... |
ORPHA:432 |
Alopecia Areata 1 |
|
Alopecia universalis, Patchy alopecia, Alopecia totalis, Trachyonychia, Nail pits |
OMIM:104000 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hurthle cell thyroid adenoma, Nephrolithiasis, Parathyroid adenoma, Parathyroid carcinoma, Nephro... |
OMIM:145001 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia, Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis, Rickets |
OMIM:602722 |
Idiopathic Hypercalciuria |
|
Renal calcium wasting, Osteopenia, Calcium oxalate nephrolithiasis, Osteoporosis, Hypercalciuria |
ORPHA:2197 |
Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Aminoaciduria, Renal tubular atrophy, Short stature, Hyposthenuria, Glycosuria,... |
OMIM:308990 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation, Hypocalcemia |
OMIM:615361 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Osteopenia, Osteoporosis, Hypercalciu... |
OMIM:612286 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Elevated circulating parathyroid hormone level, Osteopenia, Metacarpal periosteal thickening, Ach... |
OMIM:617994 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia, Osteomalacia, Hyperphosphaturia, Rickets |
ORPHA:89937 |
Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Elevated ser... |
ORPHA:556037 |
Acromesomelic Dysplasia 2A |
|
Disproportionate short-limb short stature, Flexion contracture, Short femur, Hypoplasia of the ra... |
OMIM:200700 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... |
ORPHA:97289 |
Alopecia Universalis |
|
Alopecia universalis, Absent eyebrow, Absent eyelashes, Patchy alopecia |
ORPHA:701 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Elevated ser... |
ORPHA:556030 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Disproportionate short-limb short stature, Short femur, Hypoplasia of the radius, Short tibia, Ab... |
OMIM:601376 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Hypotrichosis 11 |
|
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... |
OMIM:615059 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Increased ci... |
OMIM:610600 |
Fanconi-Bickel Syndrome |
|
Failure to thrive, Growth delay, Hypophosphatemia, Renal tubular acidosis, Hepatomegaly, Elevated... |
ORPHA:2088 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hy... |
OMIM:601198 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Osteopenia, Primary amenorrh... |
OMIM:614837 |
Cystinosis |
|
Renal tubular dysfunction, Failure to thrive, Polydipsia, Hypophosphatemia, Hypokalemia, Aminoaci... |
ORPHA:213 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs, Generalized aminoaciduria |
ORPHA:882 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hypocalcemia, Hyperphosphate... |
OMIM:146200 |
Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis |
OMIM:607634 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Short distal phalanx of finger, Renal hypophosphatemia |
OMIM:241519 |
Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Increased circulating renin level, Hy... |
OMIM:203400 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomelia, Intrauterine growth retarda... |
OMIM:601560 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Alopecia totalis |
ORPHA:1014 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... |
ORPHA:90796 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Dent Disease |
|
Renal hypophosphatemia, Hyperuricosuria, Glycosuria, Hematuria, Thin bony cortex, Proteinuria, Pr... |
ORPHA:1652 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Cleft palate, Short nose, Shawl scrotum, Widow's peak, Round face, Bilateral ... |
OMIM:305400 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Bulbous nose, Constipation, Decreased circulating androgen concentration, Elbow ankylosis, Cranio... |
ORPHA:95699 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair |
ORPHA:505 |
Osteopenia And Sparse Hair |
|
Osteopenia, Joint laxity |
OMIM:259690 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... |
ORPHA:70482 |
Estrogen Resistance Syndrome |
|
Delayed epiphyseal ossification, Hyperinsulinemia, Hypoplasia of the uterus, Absence of pubertal ... |
ORPHA:785 |
Satoyoshi Syndrome |
|
Amenorrhea, Abnormality of femur morphology, Nephrogenic diabetes insipidus, Hypoplasia of the ut... |
ORPHA:3130 |
Mccune-Albright Syndrome |
|
Abnormality of femur morphology, Pancreatitis, Abnormal endocrine physiology, Benign gastrointest... |
ORPHA:562 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Nail pits, Congenital alopecia totalis, Ridged nail, T lymphocytopenia |
ORPHA:169095 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Congenital hypothyroidism, Hypoalbuminemia, Obesity, Cardiomegaly |
ORPHA:88643 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Coxa vara, Flat capital femoral epiphysis, Short femur, Short stature, Micrognathia, Wide capital... |
OMIM:147891 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, Abnormal heart morphology |
DECIPHER:16 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia |
OMIM:614928 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... |
ORPHA:2722 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia, Reduced bone mineral density |
ORPHA:172 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Limb ataxia, Hand tremor, Truncal ataxia, Memory impairment, Gait disturbance, Tremor, ... |
ORPHA:98764 |
Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Abnormal vagina morphology, Hypoplasia of the uterus, Thick e... |
ORPHA:247768 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Decreased response to growth ... |
ORPHA:94089 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia, Splenomegaly, Alopecia, Dysgammaglobulinemia, Growth delay, Anemia |
ORPHA:100025 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Aminoaciduria, Short stature, Glycosuria, Large for gestational age, Proteinuri... |
OMIM:616026 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating renin level,... |
ORPHA:95409 |
Gitelman Syndrome |
|
Failure to thrive, Hypomagnesemia, Hypokalemia, Polydipsia, Polyuria, Hypocalciuria, Nocturia, Pa... |
OMIM:263800 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Osteomyelitis, Hypovolemic shock, Glucocortocoid-insensitive primary hyperaldoste... |
ORPHA:171876 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Apparent Mineralocorticoid Excess |
|
Failure to thrive, Polydipsia, Hypokalemia, Decreased circulating aldosterone level, Intrauterine... |
ORPHA:320 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Renal juxtaglomerular cell hypertro... |
OMIM:601678 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Hypocalcemia, Small hand, Congenital hypoparathyroidism, Birth length less than 3... |
OMIM:244460 |
Addison Disease |
|
Thymoma, Decreased circulating cortisol level, Orthostatic hypotension, Increased circulating ren... |
ORPHA:85138 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative ... |
OMIM:619398 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... |
OMIM:600740 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
Fibrous Dysplasia Of Bone |
|
Abnormality of femur morphology, Elevated circulating alkaline phosphatase concentration, Ovarian... |
ORPHA:249 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos... |
OMIM:300635 |
Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... |
ORPHA:2790 |
Candidiasis, Familial, 1 |
|
Abnormality of the endocrine system, Alopecia |
OMIM:114580 |
Dent Disease 2 |
|
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Short stature, Elevated circulating crea... |
OMIM:300555 |
Hyperparathyroidism, Neonatal Severe |
|
Metaphyseal irregularity, Failure to thrive, Hypophosphatemia, Recurrent fractures, Aminoaciduria... |
OMIM:239200 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Short 1st metacarpal, Primary amenorrhea, Hypoplasia of the ulna,... |
OMIM:609441 |
Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Primary amenorrhea, Acne, Bilateral cryptorchidism, Increased antimullerian hormone... |
ORPHA:99429 |
Albers-Schönberg Osteopetrosis |
|
Short distal phalanx of finger, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hyp... |
ORPHA:53 |
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Woolly hair, Alopecia, Hypergonadotropic hypogonadism, Woolly scalp hair, Decreased testicular size |
OMIM:601217 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Abnormality of the thyroid gland, Graves disease, Alopecia, Primary adrenal i... |
ORPHA:3143 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density |
OMIM:166740 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Increased circulating renin level, Decreased circulating al... |
ORPHA:90791 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperactive renin-angiotensin system, Failure to thrive, Hypotension, Increased circulating renin... |
OMIM:177735 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hirsutism, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Di... |
OMIM:612526 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:168558 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Coxa valga, Hypercalcemia |
OMIM:191420 |
Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:289548 |
Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Primary ameno... |
OMIM:615300 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Long eyelashes, Hypogonadism, Growt... |
ORPHA:163693 |
Familial Hypoaldosteronism |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Proximal renal... |
ORPHA:427 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Severe short stature, Flexion contracture, Cleft palate, Severe failure to thrive, Alopecia, Flar... |
OMIM:215100 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Ri... |
OMIM:146300 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Clinodactyly of the 5th finger, Severe short stature, Nephropathy, Proteinuria, Hypertension |
ORPHA:2820 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Reduced bone mineral density, Osteopenia, Arachnodactyly, Primary amenorrhea, Short... |
ORPHA:243 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Distal renal tubular acidosis, Isothenuria, Nephrocalcinosis, Rickets |
OMIM:611590 |
Mantle Cell Lymphoma |
|
Splenomegaly, Anorexia, Abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy |
ORPHA:52416 |
Estrogen Resistance |
|
Hyperinsulinemia, Hypoplasia of the uterus, Osteopenia, Primary amenorrhea, Acne |
OMIM:615363 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
Celiac Disease, Susceptibility To, 1 |
|
Infertility, Failure to thrive, Hypocalcemia, Decreased circulating IgA level, Steatorrhea, Alope... |
OMIM:212750 |
Multiple Endocrine Neoplasia Type 2 |
|
Medullary thyroid carcinoma, Elevated circulating parathyroid hormone level, Nephrolithiasis, Pri... |
ORPHA:653 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Pancreati... |
OMIM:145981 |
Multiple Endocrine Neoplasia Type 1 |
|
Melena, Increased serum serotonin, Pituitary growth hormone cell adenoma, Thymoma, Intestinal car... |
ORPHA:652 |
Preeclampsia |
|
Chronic kidney disease, Small for gestational age, Abnormality of the kidney, Increased body mass... |
ORPHA:275555 |
L-Ferritin Deficiency |
|
Decreased circulating ferritin concentration, Alopecia |
OMIM:615604 |
Multiple Endocrine Neoplasia, Type Iia |
|
Medullary thyroid carcinoma, Parathyroid adenoma, Increased circulating cortisol level, Elevated ... |
OMIM:171400 |
Cystinosis, Nephropathic |
|
Polydipsia, Hepatomegaly, Glycosuria, Hematuria, Genu valgum, Proteinuria, Weight loss, Failure t... |
OMIM:219800 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... |
ORPHA:189427 |
X-Linked Hypophosphatemia |
|
Elevated circulating alkaline phosphatase concentration, Craniosynostosis, Upper limb metaphyseal... |
ORPHA:89936 |
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Alopecia universalis, Congenital alopecia totalis |
OMIM:104130 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Abs... |
OMIM:612964 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Coxa vara, Severe short stature, Short long bone, Enlarged metaphyses, Irregular femoral epiphysi... |
OMIM:618728 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Low anterior hairline, Hepatomegaly, Small for gestational age, Renal agenesis, Spl... |
OMIM:618440 |
Androgen Insensitivity Syndrome |
|
Labial hypoplasia, Blind vagina, Sparse axillary hair, Absent facial hair, Elevated circulating l... |
OMIM:300068 |
Multiple Endocrine Neoplasia, Type Iib |
|
Medullary thyroid carcinoma, Thick eyebrow, Pes cavus, Pheochromocytoma, Proximal femoral epiphys... |
OMIM:162300 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Isolated Osteopoikilosis |
|
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... |
ORPHA:166119 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Elevated c... |
ORPHA:79303 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hip contracture, Clinodactyly of the 5th finger, Metaphyseal cupping, Hypopho... |
OMIM:156400 |
Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia |
|
Primary hyperparathyroidism |
OMIM:600166 |
Melorheostosis |
|
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... |
ORPHA:2485 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed ossification of carpal bones, ... |
OMIM:607078 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Functioning Gonadotropic Adenoma |
|
Impotence, Ovarian cyst, Osteopenia, Central diabetes insipidus, Enlarged polycystic ovaries, Pit... |
ORPHA:91348 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Alopecia, T lymphocytopenia, Ridged nail, Nail dystrophy, Nail pits, Decreased helper T cell prop... |
OMIM:601705 |
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia, Sparse body hair, Onychogryposis of toenails, Dystrophic toenail, Alopecia of scalp |
OMIM:617294 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Severe intrauterine growth retardation, Hypocalcemia, Decreased response to growth hormone stimul... |
OMIM:241410 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Gait imbalance, Akinesia, Freezing of gait, Loss of ambulation, Blepharospasm, Falls, Unsteady ga... |
ORPHA:240094 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... |
OMIM:228300 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... |
OMIM:610755 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Zollinger-Ellison Syndrome |
|
Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, Adrenocort... |
ORPHA:913 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis |
OMIM:615269 |
Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone level, Short 3rd metacar... |
ORPHA:79444 |
Mccune-Albright Syndrome |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Precocious puberty, Hyperth... |
OMIM:174800 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Generalized hirsutism, Hypocalcemia, Short stature, Nephropathy, Anonychia, H... |
ORPHA:1563 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Hypocalcemia, Short stat... |
ORPHA:2238 |
Corticobasal Syndrome |
|
Akinesia, Bradykinesia, Memory impairment, Gait disturbance, Tremor, Somatic sensory dysfunction,... |
ORPHA:454887 |
Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Elevated circulating parathyroid hormone level, Short 3rd metacar... |
ORPHA:79443 |
X-Linked Intellectual Disability, Cilliers Type |
|
Failure to thrive, Clinodactyly of the 5th finger, Decreased serum testosterone concentration, Cr... |
ORPHA:163971 |
Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Rickets, Stage 5 chronic kidney disease |
OMIM:219900 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Poor suck, Weight loss, Abnormal esop... |
ORPHA:2198 |
East Syndrome |
|
Hypomagnesemia, Hypokalemia, Polydipsia, Abnormal urinary electrolyte concentration, Salt craving... |
ORPHA:199343 |
Slc35A2-Cdg |
|
Transient nephrotic syndrome, Craniosynostosis, Osteopenia, Hip subluxation, Limb joint contractu... |
ORPHA:356961 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Sudden cardiac death, Gout, Osteoporosis, Hypertriglyceridemia, Myocardial infarc... |
OMIM:610947 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Polydipsia, Renal juxtaglomerular c... |
OMIM:241200 |
Oliver-Mcfarlane Syndrome |
|
Severe short stature, Decreased response to growth hormone stimulation test, Hypoplasia of penis,... |
OMIM:275400 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Flexion contracture |
OMIM:615883 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... |
OMIM:166600 |
Pseudohypoparathyroidism, Type Ia |
|
Short toe, Short stature, Elevated circulating parathyroid hormone level, Brachydactyly, Osteopor... |
OMIM:103580 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... |
ORPHA:168563 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Mesoaxial hand polydactyly, Short fourth metatarsal, Micropenis, Polyuria, Brachydact... |
OMIM:615994 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypomagnesemia, Hypokalemia, Polydipsia, Short stature, Polyuria, Hypocalciuria, Salt craving, In... |
OMIM:612780 |
Schwartz-Jampel Syndrome, Type 1 |
|
High palate, Congenital hip dislocation, Micromelia, Long eyelashes in irregular rows, Anterior b... |
OMIM:255800 |
Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Streak ovary, Alopecia, Osteopenia, Hypogonadism, Hypoplasia of the uterus, Dec... |
ORPHA:3464 |
Timothy Syndrome |
|
Hypocalcemia, Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, H... |
OMIM:601005 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Sparse eyebrow, Clitoral hypoplasia, Pyloric stenosis, Bifid distal phalanx of the thumb, Hypopla... |
OMIM:618419 |
Flynn-Aird Syndrome |
|
Joint stiffness, Osteoporosis, Increased bone mineral density, Increased bone density with cystic... |
OMIM:136300 |
Sclerosteosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis |
ORPHA:3152 |
Primary Fanconi Renotubular Syndrome |
|
Hyperuricosuria, Glycosuria, Renal sodium wasting, Weight loss, Stage 5 chronic kidney disease, H... |
ORPHA:3337 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Failure to thrive, Hepatomegaly, Jaundice, Intrahepatic cholestasis with episodic... |
OMIM:211600 |
Juvenile Nephropathic Cystinosis |
|
Polydipsia, Glycosuria, Elevated circulating creatinine concentration, Proteinuria, Proximal tubu... |
ORPHA:411634 |
Seckel Syndrome 7 |
|
Intrauterine growth retardation, Hypoplasia of the uterus, Abnormal carpal morphology, Severe sho... |
OMIM:614851 |
Coffin-Siris Syndrome 9 |
|
High palate, Hypertrichosis, Long nose, Depressed nasal bridge, Short nose, Long eyelashes, Intra... |
OMIM:615866 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... |
OMIM:616050 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
Kennerknecht syndrome |
|
High palate, Abdominal obesity, Malrotation of colon, Hypoplasia of the uterus, Toe clinodactyly,... |
OMIM:600908 |
Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Failure to thrive, Polyuria, Hypercalciuria, Infantile hypercalcemia, Weight los... |
OMIM:143880 |
Bartter Syndrome, Type 3 |
|
Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassium, Polyuria, Hypocal... |
OMIM:607364 |
Short Stature, Dauber-Argente Type |
|
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Short statu... |
OMIM:619489 |
Pseudohypoparathyroidism, Type Ic |
|
Short stature, Elevated circulating parathyroid hormone level, Brachydactyly, Osteoporosis, Hypot... |
OMIM:612462 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis |
ORPHA:564003 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Decreased circulating cortisol level, Premature thelarche, Long penis, Testicular adren... |
ORPHA:90795 |
Disorder Of Bile Acid Synthesis |
|
Rickets |
ORPHA:79168 |
Parc Syndrome |
|
Absent eyebrow, Absent eyelashes, Alopecia |
OMIM:600331 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... |
ORPHA:3361 |
Medullary Thyroid Carcinoma |
|
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Elevated calcitonin, ... |
ORPHA:1332 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Recurrent fractures, Reduced bone mineral density, Hypergonadotropic hypogonadism, Short stature,... |
ORPHA:2410 |
5-Oxoprolinase Deficiency |
|
Reduced 5-oxoprolinase level, Enterocolitis, Abdominal pain, Diarrhea, Vomiting |
OMIM:260005 |
Parathyroid Carcinoma |
|
Polydipsia, Elevated circulating parathyroid hormone level, Weight loss, Nephrolithiasis, Thyroid... |
ORPHA:143 |
Apparent Mineralocorticoid Excess |
|
Failure to thrive, Decreased circulating aldosterone level, Hypokalemia, Growth delay, Small for ... |
OMIM:218030 |
Aromatase Deficiency |
|
Delayed epiphyseal ossification, Generalized hirsutism, Female infertility, Type II diabetes mell... |
ORPHA:91 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Diarrhea, Osteoporosis, Vomiting, Type I diabetes mellitus, Rickets |
OMIM:560000 |
Femoral-Facial Syndrome |
|
Coxa vara, Renal hypoplasia/aplasia, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short ... |
ORPHA:1988 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Ventricular septal defect, Intrauterine growth retardation, Cardiomegaly, Flexion con... |
OMIM:616897 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased specific pneumococcal antibody level, Red... |
OMIM:615897 |
Amoebiasis Due To Entamoeba Histolytica |
|
Acute colitis, Bloody diarrhea, Elevated circulating alkaline phosphatase concentration, Abnormal... |
ORPHA:67 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... |
OMIM:602032 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hypoplasia of the uterus, Mi... |
OMIM:614841 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Joint stiffness, Delayed epiphyseal ossification, Epiphyseal dysplasia, Disproportionate short-li... |
OMIM:132400 |
Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
Helix Syndrome |
|
Nephrolithiasis, Hypokalemia, Polyuria, Hypocalciuria, Xerostomia, Hypohidrosis, Anhidrosis, Rena... |
OMIM:617671 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Labial hypoplasia, Sparse eyebrow, Tapered finger, Long eyelashes, Aplastic/hypoplastic toenail, ... |
OMIM:619293 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Failure to thrive, Decreased circulating IgG level, Mucoid diarrhea, Inflammatio... |
OMIM:615767 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Short stature, Broad femoral neck... |
OMIM:609324 |
Osteopetrosis, Autosomal Recessive 1 |
|
Coxa vara, Failure to thrive, Hypocalcemia, Osteomyelitis, Increased bone mineral density, Hepato... |
OMIM:259700 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Hypokalemia, Polyuria, Hypercalciuria, Adrenal hyperplasia, Decreased circulating ren... |
OMIM:613677 |
49,Xyyyy Syndrome |
|
Abnormality of the testis size, Large carpal bones, Decreased serum testosterone concentration, E... |
ORPHA:99330 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Hypocalcemia, Severe short stature, Increased bone mineral density, Small for... |
OMIM:127000 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Osteoporos... |
OMIM:618187 |
Crandall Syndrome |
|
Pili torti, Brittle hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Fine hai... |
ORPHA:202 |
Ovarian Dysgenesis 2 |
|
Hirsutism, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenor... |
OMIM:300510 |
Moynahan Syndrome |
|
Alopecia, Cachexia, Sparse hair, Hypogonadism |
ORPHA:2574 |
Neu-Laxova Syndrome |
|
External genital hypoplasia, Cleft palate, Depressed nasal ridge, Osteopenia, Micromelia, Polymic... |
ORPHA:2671 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypospadias, Depressed nasal bridge, Polydactyly, Hypoplastic ischia, Short nose, Decreased circu... |
OMIM:616910 |
Immunodeficiency 76 |
|
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Ch... |
OMIM:619164 |
Distal Renal Tubular Acidosis |
|
Nephrolithiasis, Failure to thrive, Hypokalemia, Aminoaciduria, Decreased glomerular filtration r... |
ORPHA:18 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Short stature, Hypoplasia of th... |
OMIM:112910 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Nephronophthisis, Short stature, Cone-shaped epiphysis, Abnormality of bo... |
ORPHA:3156 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... |
ORPHA:1646 |
Adamantinoma |
|
Hypercalcemia, Pathologic fracture |
ORPHA:55881 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Elevated circulating parathyroid hormone level, Nephrolithiasis, Thyroid carcinoma, P... |
ORPHA:99880 |
Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Impotence, Sparse eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Osteopenia, Alopecia, Pr... |
ORPHA:2232 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Hyperbilirubinemia, Steatorrhea, Diarrhea, Hypocholesterolemia, Rickets |
OMIM:607765 |
Calciphylaxis |
|
Secondary hyperparathyroidism, Ectopic ossification, Hyperphosphatemia, Stage 5 chronic kidney di... |
ORPHA:280062 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Intrauterine growth retardation, Proteinuria, Elevated hepatic transaminase |
OMIM:189800 |
Pde4D Haploinsufficiency Syndrome |
|
Broad phalanx, Broad face, Elevated circulating parathyroid hormone level, Depressed nasal bridge... |
ORPHA:439822 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia, Genu recurvatum, Reduced bone mineral density, Talipes, Short metacarpal, Toe s... |
ORPHA:2611 |
Idiopathic Achalasia |
|
Gastroesophageal reflux, Decreased prealbumin level, Recurrent aspiration pneumonia, Malnutrition... |
ORPHA:930 |
Osteopetrosis, Autosomal Dominant 3 |
|
Recurrent fractures, Osteopenia, Hyperparathyroidism |
OMIM:618107 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Myocardial infarction, Glomerular subendothelial elec... |
ORPHA:54370 |
X-Linked Intellectual Disability, Van Esch Type |
|
Failure to thrive, Type II diabetes mellitus, Decreased serum testosterone concentration, Cryptor... |
ORPHA:163976 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... |
OMIM:619665 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Hypocalcemia, Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short... |
OMIM:607143 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Abnormal circulating calcium concentration, Reduced bone mineral density, Sh... |
OMIM:619795 |
Thumb Deformity And Alopecia |
|
Alopecia, Short thumb, Short stature |
OMIM:188150 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Acne, Abnormal hair morphology, M... |
ORPHA:3000 |
Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Decreased response to growth hormon... |
OMIM:606407 |
Mueller-Weiss Syndrome |
|
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... |
ORPHA:566943 |
Medullary Sponge Kidney |
|
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria |
ORPHA:1309 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Ventricular septal defect, Bloody diarrhea, Colonic atresia, Jejunal atresia, Lymph... |
OMIM:243150 |
Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short toe, Disproportionate short-limb short stature, Short tibia, Aplasia of th... |
ORPHA:2098 |
Nephropathy, Deafness, And Hyperparathyroidism |
|
Nephropathy, Hyperparathyroidism, Parathyroid hyperplasia, Renal insufficiency |
OMIM:256120 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Abdominal obesity, Bulbous nose, Decreased serum testosterone concentration, Cryptorchidism, Smal... |
OMIM:300869 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Bilateral renal atrophy, Metatarsal osteolysis, Hypertension, Microg... |
OMIM:166300 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Severe intrauterine growth retardation, Hypocalcemia, Convex nasal ridge, Hyp... |
ORPHA:2323 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Irregular acetabular roof, Genu valg... |
OMIM:156500 |
Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
X-Linked Agammaglobulinemia |
|
Osteomyelitis, Hypocalcemia, Short stature, Alopecia, Arthritis, Autoimmunity, Neutropenia, Agamm... |
ORPHA:47 |
Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Hypoplas... |
OMIM:617719 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Autoimmunity, Decreased circulating antibody l... |
ORPHA:169079 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple... |
OMIM:613101 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Disproport... |
OMIM:127300 |
Paget Disease Of Bone 2, Early-Onset |
|
Sclerosis of skull base, Short femur, Fractures of the long bones, Femoral bowing, Osteolysis, In... |
OMIM:602080 |
Hypertension And Brachydactyly Syndrome |
|
Short stature, Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Hypertension, Short... |
OMIM:112410 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal calcium-phosphate regulating hormone level, Recurrent fractures, Precocious puberty, Abn... |
ORPHA:457059 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size |
OMIM:619689 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with ... |
OMIM:617006 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Progressive cerebellar ataxia, Cognitive impairment, Tremor, Gait ataxia |
ORPHA:98773 |
Gracile Bone Dysplasia |
|
Failure to thrive, Hypocalcemia, Short stature, Flared metaphysis, Brachydactyly, Slender long bo... |
OMIM:602361 |
Oncogenic Osteomalacia |
|
Abnormality of femur morphology, Tibial bowing, Hypophosphatemia, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
Parkinson Disease 17 |
|
Tremor, Akinesia, Bradykinesia, Resting tremor |
OMIM:614203 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Short Rib-Polydactyly Syndrome |
|
Nephronophthisis, Cone-shaped epiphysis, Micromelia, Hepatic cysts, Bowing of the long bones, Int... |
ORPHA:1505 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short stature, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia... |
OMIM:612447 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Decreased level of 1,5 anhydroglucitol in serum, Polyuria, Polyphagia, Diabetes mellitus |
OMIM:222100 |
Hypophosphatasia, Infantile |
|
Failure to thrive, Disproportionate short-limb short stature, Craniosynostosis, Elevated plasma p... |
OMIM:241500 |
Axial Osteomalacia |
|
Renal cyst, Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mine... |
OMIM:109130 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Recurrent fractures, Glycosuria, Renal Fanconi syndrome, Stage 5 chronic kidney disease, Rickets |
OMIM:268315 |
Spinocerebellar Ataxia 21 |
|
Apathy, Ataxia, Progressive cerebellar ataxia, Akinesia, Limb ataxia, Cognitive impairment, Menta... |
OMIM:607454 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Short... |
ORPHA:2725 |
Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Tapered finger, Alopecia totalis, Abnormality of the nail, Short finger |
OMIM:302000 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Colitis, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, ... |
OMIM:604416 |
Perrault Syndrome 1 |
|
High palate, Talipes equinovarus, Short stature, Primary amenorrhea, Gonadal dysgenesis, Osteopor... |
OMIM:233400 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Hypocalcemia, Increased bone mineral density, Autoimmune hypo... |
ORPHA:36913 |
Grant Syndrome |
|
Large face, Short stature, Abnormality of the glenoid fossa, Depressed nasal bridge, Facial asymm... |
ORPHA:2097 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... |
OMIM:273250 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Craniosynostosis, Enthesitis, Rickets of the lower limbs, Pseudo-fracture... |
ORPHA:289176 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Short stature, Brachyd... |
OMIM:226900 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Systemic lupus erythematosus, Hyperinsulinemic hypoglycemia... |
ORPHA:411593 |
Laryngeal Neuroendocrine Tumor |
|
Increased serum serotonin, Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone... |
ORPHA:100083 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... |
OMIM:229070 |
Hypomagnesemia 3, Renal |
|
Nephrolithiasis, Failure to thrive, Hypomagnesemia, Chronic kidney disease, Renal tubular acidosi... |
OMIM:248250 |
Lessel-Kubisch Syndrome |
|
Short stature, Sparse pubic hair, Renal hypoplasia, Renal insufficiency, Hypogonadism, Hypertensi... |
OMIM:618681 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm... |
OMIM:619949 |
Cartilage-Hair Hypoplasia |
|
Large face, Sparse hair, Sparse eyebrow, Abnormally ossified vertebrae, Depressed nasal ridge, De... |
ORPHA:175 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia, Micrognathia, Tapered finger, Sandal gap, Intrauterine growth retardation |
ORPHA:1438 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Cone-shaped epiphyses of the phalanges of the hand, Mild postnatal growth retardation, Calvarial ... |
OMIM:101800 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Increased circulating renin level, Proximal tubulo... |
OMIM:241150 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Sparse hair, Osteopenia, Cone-shaped epiphysis, Broad nasal tip, Clitoral hypoplasia, Hypoplastic... |
OMIM:614813 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... |
OMIM:617442 |
Cortisone Reductase Deficiency 1 |
|
Obesity, Hirsutism, Precocious puberty, Alopecia |
OMIM:604931 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... |
OMIM:266600 |
Nicolaides-Baraitser Syndrome |
|
Sparse hair, Alopecia, Eczema, Abnormal epiphysis morphology, Sandal gap, Long eyelashes, Thick n... |
ORPHA:3051 |
Lethal Faciocardiomelic Dysplasia |
|
Intrauterine growth retardation, Microretrognathia, Hypoplastic left heart, Hypoplasia of the rad... |
ORPHA:1972 |
Acromesomelic Dysplasia 2C |
|
Severe short-limb dwarfism, Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short... |
OMIM:201250 |
Infantile Nephropathic Cystinosis |
|
Renal tubular dysfunction, Failure to thrive, Hypophosphatemia, Hypokalemia, Aminoaciduria, Hyper... |
ORPHA:411629 |
Rhizomelic Chondrodysplasia Punctata |
|
Growth delay, Alopecia, Sparse body hair, Short stature, Spina bifida occulta, Flat face, Limb un... |
ORPHA:177 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Shuffling gait, Gait ataxia, Dystonia,... |
ORPHA:391411 |
46,Xy Sex Reversal 4 |
|
High palate, Anal atresia, Sex reversal, Hypoplasia of the uterus, Increased blood urea nitrogen,... |
OMIM:154230 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Recurrent fractures, Failure to thrive, Increased bone mineral density, Short ... |
OMIM:239000 |
Hypophosphatasia |
|
Recurrent fractures, Craniosynostosis, Short stature, Bowing of the long bones, Hypercalcemia, Ab... |
ORPHA:436 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormal calcium-phosphate regulating hormone level, Sparse hair, Abnormally ossified vertebrae, ... |
ORPHA:2636 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... |
ORPHA:3453 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Joint contracture of the hand, Osteopenia, Osteoporosis, Camptodactyly, Enlarged epiphyses |
OMIM:264010 |
Neuroendocrine Tumor Of The Colon |
|
Melena, Bowel urgency, Increased serum serotonin, Hepatomegaly, Facial telangiectasia, Weight los... |
ORPHA:100080 |
Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2204 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia universalis, Sparse body hair, Memory impairment, Abnormal eyelash mo... |
ORPHA:1008 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Cleft palate, Short stature, Coronal craniosynostosis, Brachydactyly, Flat face, Genu ... |
OMIM:614078 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Diarrhea, Thrombocytopeni... |
OMIM:619802 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty |
OMIM:618117 |
Immunodeficiency 70 |
|
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... |
OMIM:618969 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... |
ORPHA:750 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
46,Xy Sex Reversal 1 |
|
Sex reversal, Abnormality of male external genitalia, Elevated circulating luteinizing hormone le... |
OMIM:400044 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Hyper... |
OMIM:161900 |
Wiedemann-Steiner Syndrome |
|
High palate, Failure to thrive, Short toe, Clinodactyly of the 5th finger, Constipation, Thick ey... |
OMIM:605130 |
Abruzzo-Erickson Syndrome |
|
Short toe, Cleft palate, Short stature, Hypospadias, Coronal hypospadias, Brachydactyly, Radiouln... |
ORPHA:921 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... |
OMIM:137950 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Gastritis, Alopecia, Eczema, Decreased prealbumin level, Vomiting, Ant... |
ORPHA:37042 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Elevated aldolase level, Arrhythmia, Increased... |
ORPHA:99845 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Nail dysplasia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Alopecia, Cachexia, Xerostomia, Nail d... |
OMIM:175500 |
Xp22.13P22.2 Duplication Syndrome |
|
High palate, Flared nostrils, 2-3 toe syndactyly, Sparse hair, Short stature, Small hand, Broad n... |
ORPHA:284180 |
49,Xxxyy Syndrome |
|
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... |
ORPHA:261534 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... |
OMIM:240950 |
Maternally-Inherited Diabetes And Deafness |
|
Type II diabetes mellitus, Abnormal circulating lipid concentration, Arrhythmia, Renal insufficie... |
ORPHA:225 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Hypomagnesemia, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Prot... |
OMIM:613845 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Ren... |
OMIM:619468 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Flexion contracture, Alopecia, Hypergonadotropic hypogonadism, Sparse body hai... |
ORPHA:2850 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Disproportionate short-limb short stature, Talipes equinovarus, Flat face, Bowing of the long bon... |
OMIM:224410 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... |
OMIM:618394 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Glomerular C3 deposition, Arthritis, Abnormal glomerular mesangium morphology... |
ORPHA:567544 |
Non-Functioning Pituitary Adenoma |
|
Impotence, Decreased fertility in males, Central adrenal insufficiency, Vomiting, Erectile dysfun... |
ORPHA:91349 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction |
ORPHA:2380 |
Atkin-Flaitz Syndrome |
|
Short stature, Broad nasal tip, Coarse facial features, Tapered finger, Genu valgum, Joint laxity... |
OMIM:300431 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Generalized joint laxity, Short stature, Broad femoral neck, Short femoral ... |
OMIM:609325 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Hyper... |
OMIM:601894 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Joint stiffness, Coxa vara, Gastroesophageal reflux, Hiatus hernia, Coxa valga, Severe short stat... |
ORPHA:1901 |
Oculocerebrodental Syndrome |
|
Metaphyseal dysplasia, Hypocalcemia, Short stature, Short 5th finger, Hypoplasia of the capital f... |
ORPHA:557003 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis, Osteoporosis |
OMIM:233300 |
Hyperaldosteronism, Familial, Type I |
|
Abnormality of the urinary system, Adrenal hyperplasia, Adrenogenital syndrome, Decreased circula... |
OMIM:103900 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Short lower limbs, Abnormal epip... |
ORPHA:2501 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Hypokalemia, Increased urinary potassium, Palpitations, Adrenal hyperplasia, Decrease... |
ORPHA:231580 |
Neuroendocrine Tumor Of The Rectum |
|
Melena, Bowel urgency, Increased serum serotonin, Hepatomegaly, Constipation, Hematochezia, Facia... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Melena, Bowel urgency, Increased serum serotonin, Hepatomegaly, Constipation, Hematochezia, Facia... |
ORPHA:100082 |
Zellweger Syndrome |
|
High palate, Failure to thrive, Malabsorption, Wide anterior fontanel, Short stature, Hypospadias... |
ORPHA:912 |
Pendred Syndrome |
|
Thyroid carcinoma, Nephropathy, Hypothyroidism, Hyperparathyroidism, Goiter |
ORPHA:705 |
Pseudomyxoma Peritonei |
|
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Weight... |
ORPHA:26790 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Gaisböck Syndrome |
|
Angina pectoris, Hypovolemia, Hyperproteinemia, Gout, Increased circulating renin level, Hypertri... |
ORPHA:90041 |
Pseudoprogeria Syndrome |
|
Joint stiffness, Failure to thrive, Decreased body weight, Absent eyebrow, Sparse hair, Short sta... |
ORPHA:2985 |
17Q21.31 Microduplication Syndrome |
|
High palate, Failure to thrive, Generalized hirsutism, Clinodactyly of the 5th finger, Thick eyeb... |
ORPHA:217340 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Reticular Dysgenesis |
|
Failure to thrive, Malabsorption, Skin rash, Leukopenia, Diarrhea, Chronic otitis media, Abnormal... |
ORPHA:33355 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Failure to thrive, Proximal humeral metaphyseal irregularity, Ulnar deviation of the hand, Sparse... |
OMIM:602613 |
Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Bowing of the long bones, Thickened co... |
ORPHA:53697 |
Ovarian Dysgenesis 4 |
|
Decreased body weight, Short stature, Primary amenorrhea, Decreased serum estradiol, Elevated cir... |
OMIM:616185 |
Clark-Baraitser syndrome |
|
Broad nasal tip, Coarse facial features, Tapered finger, Genu valgum, Joint laxity, Exaggerated m... |
OMIM:300602 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Short femur, Femoral bowing, Metaphyseal widening, Micrognathia, Brachydactyly, Micromelia, Hypop... |
ORPHA:440354 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Sparse hair, Short nail, Hepatic failure, Hepatic cysts, Rhizomelia, Sagittal crani... |
OMIM:218330 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Delayed epiphyseal ossification, Decreased hip abduction, Proximal humeral metaphyseal irregulari... |
OMIM:183849 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Hypokalemia, Left ventricular hypertrophy, Intracranial hemorrhage, Epistaxis, Hyperc... |
ORPHA:251274 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... |
OMIM:619281 |
Pfapa Syndrome |
|
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Arthritis, Weight loss, Infectious enc... |
ORPHA:42642 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short stature, Brachydactyly, Short phalanx of finger, Hypertension, Short metacarpal |
ORPHA:1276 |
Tuberous Sclerosis Complex |
|
Chronic kidney disease, Pituitary adenoma, Parathyroid adenoma, Carcinoid tumor, Abnormality of t... |
ORPHA:805 |
Bartter Syndrome Type 4 |
|
Hyperactive renin-angiotensin system, Failure to thrive, Hypomagnesemia, Hypokalemia, Hyperprosta... |
ORPHA:89938 |
Emery-Nelson Syndrome |
|
High palate, Metacarpophalangeal joint contracture, Depressed nasal bridge, Camptodactyly of fing... |
ORPHA:1927 |
Leprechaunism |
|
Failure to thrive, Hypertrichosis, Decreased body weight, Hypokalemia, Hepatomegaly, Hyperinsulin... |
ORPHA:508 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Increased susceptibility to fractures, Diaphyseal cortical sclerosis |
OMIM:166260 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia, Genu valgum |
OMIM:618913 |
Keratoderma Hereditarium Mutilans |
|
Cleft palate, Alopecia, Hypogonadotropic hypogonadism, Abnormality of the nail, Osteolysis, Hyper... |
ORPHA:494 |
Nephronophthisis 1 |
|
Growth delay, Polydipsia, Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubul... |
OMIM:256100 |
Nail-Patella-Like Renal Disease |
|
Short stature, Renal insufficiency, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Acrodysostosis With Multiple Hormone Resistance |
|
Short metacarpal, Elevated circulating parathyroid hormone level, Cone-shaped epiphysis, Hypogona... |
ORPHA:280651 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Polyuria, Increased circulating renin level, Hypercalciuria, Hyponatremia, Medullary... |
OMIM:300971 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Hypocalcemia, Tricuspid regurgitation, Equinus calcaneus, Left ventricular hy... |
ORPHA:746 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
High palate, Amenorrhea, Female infertility, Hypoplasia of the uterus, Depressed nasal bridge, Ir... |
OMIM:110100 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... |
ORPHA:94088 |
Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated cir... |
OMIM:619658 |
Hypercalciuria, Absorptive, 2 |
|
Calcium oxalate nephrolithiasis, Hypercalciuria |
OMIM:143870 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Failure to thrive, Talipes equinovarus, Cleft palate, Stippled chondral calcification, Polymicrog... |
OMIM:614866 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess |
OMIM:613148 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Reduced bone mineral density, Alopecia, Hypercalciuria, Abnormal fi... |
ORPHA:428 |
Occipital Horn Syndrome |
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Osteopenia, Coarse hair, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, Ab... |
ORPHA:198 |
Spermatogenic Failure 11 |
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Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Metaphyseal Acroscyphodysplasia |
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Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Severe short statur... |
ORPHA:1240 |
Coenzyme Q10 Deficiency, Primary, 8 |
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Postnatal growth retardation, Flexion contracture, Small for gestational age, Left ventricular hy... |
OMIM:616733 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Mild postnatal growth retardation, Depressed nasal bridge, Rectal prolapse, Pachygyria, Talipes e... |
OMIM:235510 |
Gitelman Syndrome |
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Polydipsia, Graves disease, Gout, Type I diabetes mellitus, Proteinuria, Primary hyperaldosteroni... |
ORPHA:358 |
Rothmund-Thomson Syndrome Type 1 |
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Sparse hair, Metaphyseal sclerosis, Osteopenia, Diarrhea, Sparse or absent eyelashes, Vomiting, A... |
ORPHA:221008 |
Ovarian Dysgenesis 10 |
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Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... |
OMIM:619834 |
Cutaneous Photosensitivity And Colitis, Lethal |
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Diarrhea, Colitis |
OMIM:219095 |
Perrault Syndrome 3 |
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Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea, Short stature |
OMIM:614129 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
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Severe short stature, Finger syndactyly, Sparse hair, Alopecia, Camptodactyly of finger, Onychogr... |
ORPHA:2251 |
Juvenile Paget Disease |
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Recurrent fractures, Short stature, Osteoporosis, Hyperuricemia, Bowing of the long bones, Hypert... |
ORPHA:2801 |
Spermatogenic Failure 72 |
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Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Fibrodysplasia Ossificans Progressiva |
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Failure to thrive, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hal... |
ORPHA:337 |
Morbid Obesity And Spermatogenic Failure |
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Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
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Adrenal insufficiency, Ulnar deviation of the hand, Central adrenal insufficiency, Flexion contra... |
OMIM:612079 |
Rabson-Mendenhall Syndrome |
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Hypertrichosis, Polydipsia, Long penis, Ventricular septal defect, Intrauterine growth retardatio... |
ORPHA:769 |
Budd-Chiari Syndrome |
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Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Acute hepatic failure, Peritonitis, Ch... |
ORPHA:131 |
Ovarian Dysgenesis 5 |
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Hypoplasia of the uterus, Primary amenorrhea, Short stature |
OMIM:617690 |
Familial Hypocalciuric Hypercalcemia |
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Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Pancreati... |
ORPHA:405 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Crohn's disease, Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, ... |
OMIM:616100 |
Eiken Syndrome |
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Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... |
ORPHA:79106 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased circulating antibody level, Anticardiolipin IgG antibody positivity, Absent isohemagglu... |
OMIM:615559 |
Fibronectin Glomerulopathy |
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Nephrotic syndrome, Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Pedal edema, R... |
ORPHA:84090 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
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Sparse scalp hair, Sparse eyebrow, Alopecia, Hypohidrosis, Hypothyroidism, Dystrophic toenail, Fi... |
ORPHA:1882 |
Coronary Artery Disease, Autosomal Dominant, 1 |
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Myocardial infarction, Hypertension, Hypercholesterolemia |
OMIM:608320 |
Trichothiodystrophy 1, Photosensitive |
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Sparse hair, Short nose, Hypogonadism, Erythroderma, Malabsorption, Flexion contracture, Hyperker... |
OMIM:601675 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Intermediate Osteopetrosis |
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Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... |
ORPHA:210110 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Hypoplasia of the uterus, Bicornuate uterus, Cleft palate, Short stature, Facial asymmetry, Azoos... |
OMIM:601076 |
Spermatogenic Failure, X-Linked, 4 |
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Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating lutein... |
OMIM:301077 |
Desbuquois Dysplasia 2 |
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