Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se... |
OMIM:618883 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath... |
OMIM:203330 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciur... |
OMIM:145980 |
Lipedema |
|
Edema |
OMIM:614103 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Cerebral calcification, Cataract, Decreased circulating parathyroid hormone l... |
OMIM:146200 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp... |
OMIM:145981 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone... |
ORPHA:94090 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Basal ganglia calcification, Nephrolithiasis, Hy... |
OMIM:601198 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Short stature, Hypercalcemia, Parathyroid hyperplasia, Rickets, Renal phosph... |
OMIM:612089 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital... |
ORPHA:2239 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri... |
ORPHA:99879 |
Idiopathic Hypercalciuria |
|
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... |
ORPHA:2197 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath... |
OMIM:603233 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Par... |
OMIM:617994 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis |
OMIM:239199 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Osteomalacia, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
Blue Diaper Syndrome |
|
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Nephrocalcinosis, ... |
ORPHA:94086 |
Hyperparathyroidism 4 |
|
Hypercalcemia, Primary hyperparathyroidism, Parathyroid carcinoma, Nephrolithiasis |
OMIM:617343 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc... |
OMIM:143880 |
Small Cell Carcinoma Of The Bladder |
|
Hematuria, Hypercalcemia, Recurrent urinary tract infections, Dysuria |
ORPHA:284400 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tib... |
OMIM:241530 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Bowing of the legs, Osteoarthritis, Trapezoidal distal femoral condyles, Femoral bowing, Tibial b... |
OMIM:307800 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Decreased response to growt... |
OMIM:614732 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:608266 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Bowing of the legs, Flared metaphysis, Growth delay, Elevated circulating parathyroid... |
OMIM:619073 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia |
ORPHA:2668 |
Pseudohypoparathyroidism, Type Ic |
|
Cataract, Basal ganglia calcification, Choroid plexus calcification, Elevated circulating thyroid... |
OMIM:612462 |
Hypomagnesemia 6, Renal |
|
Impaired renal tubular reabsorption of magnesium, Hypomagnesemia |
OMIM:613882 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Short stature, Nephrogenic diabetes insipidus, Abnormal repetit... |
ORPHA:213 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Primary hyperparathyroidism, Hypercalciur... |
OMIM:239200 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:264700 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... |
OMIM:300555 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Short stature, Anorexia, Rickets, Hepatosplenomeg... |
OMIM:611590 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Short stature, R... |
OMIM:613388 |
Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Cataract, Decreased response to growth hormone stimulation test, Pseudohypoparathyroi... |
ORPHA:94089 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Short stature, Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Ost... |
ORPHA:93160 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, ... |
ORPHA:289157 |
Enamel-Renal Syndrome |
|
Increased circulating osteocalcin level, Renal insufficiency, Hypophosphaturia, Impaired renal co... |
ORPHA:1031 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Proximal muscle weakness in upper limbs, Myositis, Renal insufficiency, Recurrent myo... |
ORPHA:99845 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia |
OMIM:612286 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Cerebral calcification, Cataract, Myopathy, Abnormal circulating calcium-phos... |
ORPHA:2238 |
Helix Syndrome |
|
Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia... |
OMIM:617671 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow... |
OMIM:300009 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow... |
OMIM:300554 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets, Hypercalciuria, Dehydration, Nephrocalcinosis, Growth delay, Hypokalemia, Distal renal t... |
OMIM:602722 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Hyperphosphaturia, Decreased circulating parathyroid hor... |
ORPHA:157215 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:277440 |
Hypophosphatasia, Infantile |
|
Polyhydramnios, Bowing of the legs, Anorexia, Nephrocalcinosis, Unossified vertebral bodies, Incr... |
OMIM:241500 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Cataract, Autoimmune hypoparathyroidism, Chronic mucocutaneous candidias... |
ORPHA:36913 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Hypocalciuria, Increased... |
OMIM:612780 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia... |
OMIM:154275 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ... |
ORPHA:89936 |
Pseudohypoparathyroidism, Type Ia |
|
Cataract, Basal ganglia calcification, Choroid plexus calcification, Pseudohypoparathyroidism, Hy... |
OMIM:103580 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia... |
OMIM:154276 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Hypoparathyroidism, Hyperphosphaturia, Bowing of the long bones, Hyp... |
OMIM:156400 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Short stature, Osteomalacia, Rickets, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic... |
OMIM:193100 |
Angioedema, Hereditary, 5 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619361 |
Multiple Endocrine Neoplasia Type 2 |
|
Joint laxity, Paraganglioma of head and neck, Elevated urinary catecholamine level, Hypercalcemia... |
ORPHA:653 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:600081 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Osteomalacia, Bowing of the legs, Rickets, Growth delay, Iron deficiency anemi... |
ORPHA:89937 |
Kenny-Caffey Syndrome, Type 1 |
|
Short palm, Proportionate short stature, Small hand, Decreased skull ossification, Slender long b... |
OMIM:244460 |
Central Diabetes Insipidus |
|
Hyponatremia, Anorexia, Dehydration, Weight loss, Depression, Lethargy, Polydipsia, Failure to th... |
ORPHA:178029 |
Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Elevated urinary epinephrine... |
OMIM:162300 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hyperphosphatem... |
OMIM:145600 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, L... |
OMIM:104200 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, ... |
ORPHA:97289 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Hypercalcemia, Hurthle cell thyroid adenoma, Nephrolithiasis, Papillary rena... |
OMIM:145001 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hyperphosphaturia, Diabetes mellitus, Hypertriglyceridemia, Bowing of the long bones,... |
ORPHA:2088 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... |
ORPHA:358 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Cerebral calcification, Cataract, Decreased response to growth hormone stimulation te... |
ORPHA:79444 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, Elevated circulating cr... |
OMIM:614727 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Hyperphosphatemia, Elevated circulating parathyroid hormone ... |
ORPHA:79445 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct... |
ORPHA:249 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hyponatremia, Cataract, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Hypokalemi... |
OMIM:617913 |
Dent Disease |
|
Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay... |
ORPHA:1652 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, Short stature, Large for gestati... |
OMIM:616026 |
Tumoral Calcinosis, Normophosphatemic, Familial |
|
Calcinosis, Conjunctivitis |
OMIM:610455 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperparathyroidism, Increased serum prostaglandin E2, Polyhydramnios, Renal salt was... |
OMIM:601678 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Galactosemia Ii |
|
Galactosuria, Hypergalactosemia, Cataract |
OMIM:230200 |
Distal Renal Tubular Acidosis |
|
Hypocitraturia, Dehydration, Reduced bone mineral density, Renal cyst, Nephrocalcinosis, Aminoaci... |
ORPHA:18 |
Gitelman Syndrome |
|
Polyuria, Renal magnesium wasting, Rhabdomyolysis, Nocturia, Enuresis, Hypokalemia, Hypocalciuria... |
OMIM:263800 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, ... |
ORPHA:411629 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased... |
ORPHA:199343 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Hypomagnesemia |
OMIM:616418 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria, Subcutaneous calcification |
OMIM:617993 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal insufficiency, Polydipsia, Renal hamartoma, Testicular neoplasm,... |
ORPHA:143 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Short stature, Bowing of the legs, Rickets, Elevated circulating creatinine co... |
OMIM:615605 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Lethargy, Hashimoto thyroiditi... |
ORPHA:199299 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Metaphyseal widening, Dehydration, Aminoaciduria, Renal Fanconi syndro... |
OMIM:219800 |
Hypophosphatemic Bone Disease |
|
Short stature, Osteomalacia, Bowing of the legs, Rickets, Hypophosphatemia |
OMIM:146350 |
Calciphylaxis |
|
Hyperphosphatemia, Arterial calcification, Stage 5 chronic kidney disease, Secondary hyperparathy... |
ORPHA:280062 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia, Hypogonadism, Nephrolithiasis, Cystinuria |
ORPHA:163693 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis |
OMIM:613312 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Cerebral calcification, Cataract, Decreased response to growth hormone stimulation te... |
ORPHA:79443 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... |
ORPHA:320 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal insufficiency, Polydipsia, Renal hamartoma, Testicular neoplasm,... |
ORPHA:99880 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Osteomalacia, Hypouricemia, Postnatal growth retardati... |
OMIM:227810 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Myopathy, Tubular Aggregate, 2 |
|
Ankle flexion contracture, Hypocalcemia, Elevated circulating creatine kinase concentration, Foot... |
OMIM:615883 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short... |
OMIM:271630 |
Oculoskeletodental Syndrome |
|
Small for gestational age, Renal agenesis, Hypercalcemia, Short stature, Cryptorchidism, Splenome... |
OMIM:618440 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Dec... |
ORPHA:93324 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Kyphoscoliosis, Short neck, Congenital hypothyroidism, Hamstring contractures, Intrauterine growt... |
ORPHA:96183 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract, Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myo... |
OMIM:609115 |
Hypophosphatasia |
|
Bowing of the long bones, Failure to thrive in infancy, Hypercalcemia, Recurrent fractures, Crani... |
ORPHA:436 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Short stature, Postnatal growth retardation, Osteoporosis, Thyroiditis, Ricket... |
OMIM:212750 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Osteoporosis, Rickets, Dehydration, Proximal tubulopathy, Type I diabetes mellitus, Fai... |
OMIM:560000 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Autosomal Dominant Hypocalcemia |
|
Eczema, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hyperm... |
ORPHA:428 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Progressive Osseous Heteroplasia |
|
Osteoarthritis, Limitation of joint mobility, Abnormality of the parathyroid gland, Ectopic ossif... |
ORPHA:2762 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
Mccune-Albright Syndrome |
|
Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert... |
ORPHA:562 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... |
ORPHA:99886 |
Familial Tumoral Calcinosis |
|
Nephrocalcinosis, Calcification of muscles, Skin rash |
ORPHA:53715 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas... |
OMIM:613845 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Short stature, Recurrent fractures, Neoplasm of the parathyroid g... |
ORPHA:163634 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Corneal arcus, Cataract |
OMIM:618463 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Increased circulati... |
OMIM:610600 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... |
ORPHA:93284 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circula... |
OMIM:613677 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Severe short stat... |
OMIM:127000 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Short stature, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Coxa valga, Vertebr... |
OMIM:616583 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Anorexia, Thrombocytopenia, Splenomegaly, Neutropenia, Hyperammonemia, Dehyd... |
ORPHA:79312 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Cholelithiasis, ... |
OMIM:211600 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Abnormal vagina morphology, Hypercalcemia |
ORPHA:2123 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcification, Hyperprostaglandinuria,... |
ORPHA:73224 |
Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Dehydration, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouric... |
ORPHA:3337 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Depression, Arm dystonia, Dysphagia, Abnormal... |
OMIM:619565 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Short stature, Growth delay, Decreased circulating T4 concentration, Reduced TSH response to thyr... |
OMIM:618573 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Propionic Acidemia |
|
Pancytopenia, Increased level of hippuric acid in urine, Short stature, Thrombocytopenia, Osteopo... |
OMIM:606054 |
Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita |
OMIM:208155 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, Craniosynostosis, Mac... |
ORPHA:251004 |
Hjv Or Hamp-Related Hemochromatosis |
|
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... |
ORPHA:79230 |
Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Abnormality of the kidney, Reduced bone mineral density, Scolio... |
ORPHA:2611 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Nephrocalcinosis, Osteoarthritis |
OMIM:616833 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Proteinuria, Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus,... |
OMIM:613404 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201710 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Hyperammonemia, Dehydration, Lethargy, Failure to thrive, Anemia |
ORPHA:28 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Facial palsy, Decreased response to growth hormone stimulation te... |
OMIM:606407 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ... |
OMIM:613673 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... |
ORPHA:556030 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Short humeru... |
OMIM:239000 |
Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Abnormality of the kidney, Hypercalcemia, Abnormal sacrum morphology, B... |
ORPHA:2591 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elevated circulating creatine kinase concentration, Elbow contracture, Ankle con... |
OMIM:620386 |
Chronic Hiccup |
|
Depression, Abnormal eating behavior, Dehydration, Weight loss |
ORPHA:396 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ... |
OMIM:309000 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Growth delay, Increased circulating ... |
OMIM:203400 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomelia, Kyphosc... |
OMIM:215100 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Myopathy, Astigmatism, Hyperphosphatemi... |
ORPHA:2323 |
Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Ne... |
OMIM:241200 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia |
OMIM:618660 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Elevated urinary norepinephrine level, Elevated ur... |
ORPHA:94080 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper... |
OMIM:614736 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Cataract, Hypocalcemia, Nephropathy, Hypothyroidism |
ORPHA:1563 |
Ck Syndrome |
|
Long toe, Hyperactivity, Lumbar hyperlordosis, Kyphoscoliosis, Aggressive behavior, Long fingers,... |
ORPHA:251383 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Dysspondyloenchondromatosis |
|
Short stature, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Abnormal fibula morpholo... |
ORPHA:85198 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system... |
OMIM:264350 |
Oncogenic Osteomalacia |
|
Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysp... |
ORPHA:352540 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171420 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Dehydration, Intrauterine growth ... |
OMIM:601410 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Toe syndactyly, Short neck, Cryptorchidism, Dehydration, Dysphagia, Platyspondyly, Cone-shaped ep... |
OMIM:618958 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Renal cyst, Pheochromocytoma, Carcinoid tumor, Hyperactivity, Abnorma... |
ORPHA:805 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr... |
OMIM:602080 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Scleroderma, Familial Progressive |
|
Calcinosis |
OMIM:181750 |
Hypercholanemia, Familial 1 |
|
Failure to thrive, Rickets, Increased serum bile acid concentration |
OMIM:607748 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia |
ORPHA:35710 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoacidu... |
ORPHA:534 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Postnatal growth retarda... |
ORPHA:79303 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Small for gestational age, Rocker bottom foot, Kyphoscoliosis, Coxa valga, Cry... |
OMIM:214150 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Short stature, Kyphoscoliosis, Hyperlordosis, Coxa valga, Disproportionate short... |
OMIM:618363 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Malignant Hyperthermia Of Anesthesia |
|
Exercise-induced rhabdomyolysis, Elevated creatine kinase after exercise, Acute rhabdomyolysis, A... |
ORPHA:423 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Edema, Tremor, Osteoarthritis, Pedal edema, Ha... |
OMIM:277900 |
Idiopathic Congenital Hypothyroidism |
|
Facial edema, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stim... |
ORPHA:95717 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Genu valgum, Aminoaciduria, Glycos... |
OMIM:618913 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Hypo... |
OMIM:300539 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... |
OMIM:300200 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Growth delay, Hyperuricemia, Hypoph... |
ORPHA:469 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Fa... |
ORPHA:95716 |
Spastic Paraparesis And Deafness |
|
Cataract, Hypogonadism |
OMIM:312910 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormality of renal excretion, Coxa vara, Enthesitis, Tibial bowing, Hypocalcemic tetany, Hypoph... |
ORPHA:289176 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Short stature, Hypercalcemia, Hyperlordosis, Nephrocalcinosis, Thoracic ky... |
ORPHA:557003 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia, ... |
OMIM:605899 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Progressive Familial Intrahepatic Cholestasis |
|
Short stature, Splenomegaly, Reduced bone mineral density, Hypocalcemia, Failure to thrive |
ORPHA:172 |
Classic Galactosemia |
|
Decreased serum insulin-like growth factor 1, Dystonia, Postural tremor, Abnormal erythrocyte enz... |
ORPHA:79239 |
Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
Progressive Pseudorheumatoid Dysplasia |
|
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi... |
OMIM:208230 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Joint laxity, Short stat... |
OMIM:613658 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper... |
ORPHA:140286 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased level of methylsuccinic acid in urine, Elevated circulating acylcarnitine concentration... |
ORPHA:26792 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Cryptorchidism, Kyphosis, Flexion contracture, Abnorma... |
OMIM:618484 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Renal insufficiency, Salt ... |
ORPHA:95409 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Glucocort... |
ORPHA:171876 |
Methylcobalamin Deficiency Type Cble |
|
Glomerulopathy, Hypomethioninemia, Syndactyly, Macrocytic anemia, Pancytopenia, Hemolytic-uremic ... |
ORPHA:2169 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Abnorm... |
OMIM:619795 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Restlessness, Kyphoscoliosis, Short neck, Tremor, Flexion contracture, Small hand... |
OMIM:300055 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Neonatal epiphyseal stippling, Elevated circulating thyroid-st... |
OMIM:101800 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Severe short stature, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis o... |
ORPHA:1901 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Tremor, Hy... |
ORPHA:263455 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Growth delay, Attention deficit hyperactivity disorder, Hypomagnesemia, Obsessive... |
OMIM:619908 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Thrombocytopenia, Weight loss, Hematuria, Anemia |
ORPHA:69077 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den... |
OMIM:136300 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Renal cyst, ... |
ORPHA:699 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Abnorm... |
ORPHA:93360 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Brachydactyly, Short stature, Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, ... |
OMIM:612847 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Kyphoscoliosis, Elevated circulating creatine kinase concentration, Joint hypermobility |
ORPHA:300179 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a... |
ORPHA:284426 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Bipolar affective disorder, Short stature, Kyphoscoliosis, Anorexi... |
ORPHA:3077 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Short stature, Elevated circulating creatine kinase concentration... |
OMIM:619743 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Abnormal circulating creatine kinase concentration, Dysphagia, Kyphoscoliosis, Knee flexion contr... |
ORPHA:496689 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, Short stature, Kyphoscoliosis, Cryptorchidism, Osteoporosis, Failure to thrive, ... |
OMIM:600118 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Methylmalonic aciduria, Deh... |
ORPHA:289504 |
Renal Hypoplasia, Bilateral |
|
Edema, Renal cyst, Vesicoureteral reflux, Lethargy, Decreased glomerular filtration rate, Hyponat... |
ORPHA:97362 |
Opsismodysplasia |
|
Polyhydramnios, Edema, Short neck, Hypoplastic vertebral bodies, Short palm, Short phalanx of fin... |
OMIM:258480 |
Myopathic Ehlers-Danlos Syndrome |
|
Failure to thrive, Multiple joint contractures, Foot joint contracture, Shoulder flexion contract... |
ORPHA:536516 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Maturity-onset diabetes of the young, Maternal diabetes, Large for ges... |
ORPHA:324575 |
Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short stature, Short neck, Osteoporosis, Pseudohypoparathyroidism, Obesity, Sho... |
OMIM:612463 |
Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder, Cataract |
OMIM:617370 |
Tyrosinemia Type 1 |
|
Splenomegaly, Generalized aminoaciduria, Rickets of the lower limbs |
ORPHA:882 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Cataract |
OMIM:619813 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi... |
OMIM:619386 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Broad hallux, Short stature, Kyphoscoliosis, Hypermobility of interphalangeal joints, Atlantoaxia... |
ORPHA:3433 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Metaphyseal dysplasia, Renal insufficiency, Neonatal insulin-dependent diabetes mel... |
ORPHA:1667 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Decreased circulating free fatty acid level, Agitati... |
ORPHA:276575 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Elevated circulating creatine kinase concentration, Cervical kyphosis... |
OMIM:255800 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Hyperlordosis, Tr... |
OMIM:128100 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Short stature, Post... |
ORPHA:93325 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Urinary incontinence, Tapered finger, Unilateral radial aplasia, Kyphosis, Partial... |
ORPHA:476126 |
Foxg1 Syndrome |
|
Short stature, Kyphoscoliosis, Bruxism, Choreoathetosis, Severe postnatal growth retardation, Sco... |
ORPHA:561854 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Rickets |
OMIM:619232 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Dehydration, Reduce... |
ORPHA:168558 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... |
ORPHA:89938 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Growth delay, Uraciluria, Lethargy, Failure to thrive |
OMIM:274270 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... |
ORPHA:94093 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Corneal opacity, Precocious puberty, Horseshoe kidney, Hypophosphatemic rickets |
OMIM:163200 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol... |
ORPHA:3041 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus, Nephropathy,... |
OMIM:208085 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious... |
ORPHA:369837 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Short stature, Recurrent fractures, Mandibular oste... |
ORPHA:53 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Cataract, Female hypogonadism, Chronic active hepatitis, ... |
OMIM:240300 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hem... |
ORPHA:90041 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Dehydration, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypo... |
ORPHA:33355 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Back pain, Kyphoscoliosis, Aggressive behavior, Cervical spondylosis, Pseudobulbar paralysis, Apa... |
ORPHA:199354 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Type I diabetes mellitus, Agitati... |
ORPHA:276580 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Joint laxity, Short metacarpal, Short stature, Camptodactyly of finger, Kyphoscoliosi... |
OMIM:612350 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Dehydration, Choreoathe... |
ORPHA:27 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Increas... |
ORPHA:90791 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:611783 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Xerostomia, Premature adrenarche, Micropenis, Lethargy, Hypothalamic luteinizing horm... |
ORPHA:398079 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis |
OMIM:131200 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Neonatal hyperbilirubinemia, Decr... |
ORPHA:90674 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Splenomegaly, Nephropathy, Elevated circulating creatinine concentrati... |
ORPHA:29073 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Hypercalciuria, Abnor... |
ORPHA:251274 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concentration, Arthri... |
OMIM:602390 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Methylmalonic aciduria, Hyperhomocysti... |
OMIM:614857 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Pustule... |
ORPHA:247353 |
Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Short stature, Elevated circulating creatine kinase concentration, Kyphosco... |
OMIM:619542 |
Allan-Herndon-Dudley Syndrome |
|
Small for gestational age, Abnormality of thyroid physiology, Failure to thrive in infancy, Polyh... |
ORPHA:59 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Long toe, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth... |
OMIM:619489 |
Insulinomatosis And Diabetes Mellitus |
|
Developmental glaucoma, Insulinoma, Multiple pancreatic beta-cell adenomas, Developmental catarac... |
OMIM:147630 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat... |
ORPHA:276621 |
Erythrocytosis, Familial, 2 |
|
Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Failure to thrive, Ele... |
OMIM:263400 |
Hyperferritinemia With Or Without Cataract |
|
Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:617907 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Short neck, Vertebral segmentation defect, Hypospadias, Short sta... |
OMIM:611209 |
Proteus Syndrome |
|
Kyphoscoliosis, Splenomegaly, Mandibular hyperostosis, Spinal canal stenosis, Calvarial hyperosto... |
OMIM:176920 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol... |
OMIM:614856 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Disproportionate short-trunk short stature, Kyphoscoliosis, Short neck, Irregular, rachitic-like ... |
OMIM:184252 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Hypophosphatemic rickets, Arterial calcification, Coronary artery calcification |
OMIM:614473 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Grade II v... |
OMIM:619377 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Nephrocalcinosis, Decreased muscle mass, Facial hypotonia, Diabetes insipidus |
ORPHA:500533 |
Glucagonoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... |
ORPHA:97280 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Anorexia, Xerostomia, Clubbing, Hypokalemia, Clubbing of fingers, Hypocalcemia, Hypomag... |
OMIM:175500 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Edema, Pericardial effusion, Weight loss, Growth delay, Reduced proportion of CD4+ e... |
ORPHA:90362 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Decreased circulating free fatty acid level, Agitation, Hyperinsulinem... |
ORPHA:276556 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Impulsivity, Hypophosphaturia, Hyperlordosis, Aggressive behavior, Hypo... |
ORPHA:73223 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic hypogonadism, ... |
ORPHA:465508 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... |
ORPHA:37042 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Arachnodactyly, Kyphoscoliosis, Methioninuria, Limitation of joint mobility, Osteoporosis, Hyperh... |
OMIM:236200 |
Autosomal Dominant Brachyolmia |
|
Short stature, Kyphoscoliosis, Increased vertebral height, Platyspondyly, Abnormal metaphysis mor... |
ORPHA:93304 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia, Agitation, Hy... |
ORPHA:276608 |
Somatostatinoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... |
ORPHA:97283 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Kinetic tremor,... |
OMIM:616817 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Anorexia, Hydrops fetalis, Dehydration, Reticulocytopenia, 3-Methylglutaric... |
OMIM:557000 |
Insulinoma |
|
Tremor, Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathy... |
ORPHA:97279 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Cryptorchidism, Abnormality of the parathyroid gland, Abnor... |
ORPHA:3429 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Flexion contracture, Xerostomia, Increased body weight, Compulsive behaviors, Letharg... |
ORPHA:398069 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Cataract, Stage 5 chronic kidney disease |
OMIM:615995 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Ppoma |
|
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Anore... |
ORPHA:97278 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Dehydration, Hyperactive renin-angiotensin system, Pseudohypoaldoster... |
OMIM:177735 |
Developmental And Epileptic Encephalopathy 40 |
|
Choreoathetosis, Intrauterine growth retardation, Small for gestational age, Lethargy |
OMIM:617065 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive, Anorexia |
ORPHA:79283 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Joint laxity, Diabetes mellitus, Small for gestational age, Down-sloping shoulders, Kyphoscoliosi... |
ORPHA:391408 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Abnormal circulating insulin concent... |
ORPHA:69076 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Short stature, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal b... |
OMIM:600384 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Basal ganglia calcification, Chronic kidney disease, Thickened g... |
OMIM:146255 |
Hereditary Central Diabetes Insipidus |
|
Weight loss, Growth delay, Lethargy, Polydipsia, Diabetes insipidus |
ORPHA:30925 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... |
ORPHA:47 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Hyperparathyroidism, Stage 3 chronic kidney disease, Cortical scl... |
OMIM:620366 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Psoriasiform dermatitis, Unilateral r... |
ORPHA:2237 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Hypocholesterolemia, Failure to thrive |
OMIM:607765 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat... |
ORPHA:29072 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cerebral calcification, Cataract, Hyperamylasemia, Band keratopathy, Impaired renal tubular reabs... |
OMIM:604278 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Failure to thrive in infancy, Camptodactyly of finger, Kyphoscoliosis, Rocker bottom foot, Short ... |
OMIM:610758 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Flexion contracture, Elbow flexion contracture, Insulin-resistant dia... |
OMIM:248370 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Polyhydramnios, Flexion contracture, Osteoporosis, Rickets, Opisthotonu... |
ORPHA:2671 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Dehydration, Decreased c... |
ORPHA:79159 |
Juvenile Dermatomyositis |
|
Calcinosis, Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration... |
ORPHA:93672 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Edema, Goiter, Delayed pr... |
ORPHA:90673 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Myositis, Recurrent urinary tract infections, Elevated circulating creatine ... |
ORPHA:36234 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Postural tremor, Kyphoscoliosis, Wrist flexion contracture, Ankle flexion contracture |
OMIM:616668 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra... |
OMIM:259700 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... |
ORPHA:198 |
Combined Malonic And Methylmalonic Aciduria |
|
Methylmalonic aciduria, Failure to thrive, Dehydration |
OMIM:614265 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... |
OMIM:241150 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Hypomethioninemia, Normocytic anemia, Megaloblastic anemia, Methylmalonic... |
OMIM:236270 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Short neck, Abnormal finger morphology, Abno... |
ORPHA:2636 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidis... |
OMIM:618183 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Flexion contracture, Elevated circulating creatine kinase concentration, Kyphoscoliosis |
OMIM:607855 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Joint laxity, Thoracolumbar kyphosis, Kyphoscoliosis |
OMIM:236660 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni... |
ORPHA:556037 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Tr... |
OMIM:251100 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Short stature, Kyphosis, Reduced bone mineral density, Delayed ossific... |
OMIM:618392 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Axial dystonia, Stiff neck, Dystonia, Kyphoscoliosis, Dysphagia |
OMIM:618230 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Renal hypoplasia/aplasia |
ORPHA:1438 |
Hyperekplexia 4 |
|
Kyphoscoliosis, Flexion contracture, Distal arthrogryposis, Camptodactyly, Adducted thumb |
OMIM:618011 |
Bangstad Syndrome |
|
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Deviat... |
ORPHA:1227 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Skeletal muscle steatosis, Renal tubular dysfunction, Aminoacidur... |
ORPHA:436271 |
Intellectual Developmental Disorder, X-Linked 19 |
|
Scoliosis, Small for gestational age, Kyphoscoliosis |
OMIM:300844 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Stage 5 chronic kidney disease, Methylmalonic aciduria, Dehydration, Hype... |
OMIM:251000 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Nephrocalcinosis, Facial hypotonia, Diabetes insipidus |
OMIM:611087 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Cryptorchidism, ... |
ORPHA:65759 |
Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Grow... |
OMIM:222748 |
19P13.3 Microduplication Syndrome |
|
Hyperactivity, Unilateral cryptorchidism, Kyphoscoliosis, Precocious puberty, Long fingers, Osteo... |
ORPHA:447980 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal insufficiency, Thrombocytopenia, Neutropenia, Hyperammonemia, Renal tubular dysfunction, Ch... |
ORPHA:289916 |
Cysticercosis |
|
Calcification of muscles, Cerebral calcification, Iridocyclitis, Abnormal skeletal muscle morphol... |
ORPHA:1560 |
Grfoma |
|
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Anore... |
ORPHA:97261 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Myocarditis, Oliguria, Abnormal blood ion concentration, Hypop... |
ORPHA:31824 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Calcinosis cutis, Chronic kidney diseas... |
ORPHA:416 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Pheochromocytoma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Pheochromocytoma, Renal artery... |
OMIM:171300 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... |
OMIM:613090 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Short stature, Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndro... |
OMIM:268315 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Limb joint contracture, Hypogonadotropic hypogonadism, Kyphoscoliosis, Short stature, Central adr... |
OMIM:612079 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Delayed puberty |
ORPHA:90154 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor... |
OMIM:277300 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ... |
OMIM:131100 |
Roussy-Lévy Syndrome |
|
Postural tremor, Kyphoscoliosis, Genu valgum, Scoliosis, Urinary bladder sphincter dysfunction |
ORPHA:3115 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Renal insufficiency, Hydroureter, Short stature, Polyhydramnios, Anore... |
ORPHA:223 |
Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperammonemia, Growth delay, Hyperlysinuria, Lethargy, Hyperlysinemia |
OMIM:238750 |
Orthostatic Hypotension 1 |
|
Reduced circulating prolactin concentration, Hypomagnesemia, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Edema, Polyhydramnios, Short neck, Kyphoscoliosis, Elevated 8-dehydrocholesterol, Ele... |
OMIM:302960 |
Richieri Costa-Da Silva Syndrome |
|
Short stature, Kyphoscoliosis, Short neck, Metatarsus adductus, Limitation of joint mobility, Ver... |
ORPHA:3101 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Short stature, Polyhydramnios, Kyphoscoliosis, Hip dislocation, Nephrocalcinosis, Neu... |
OMIM:618005 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Shor... |
ORPHA:457395 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Short stature, Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Polydipsia, Failure t... |
OMIM:304800 |
Glutaric Acidemia Type 3 |
|
Sacral dimple, Ketonuria, Impulsivity, Glutaric aciduria, Abnormality of circulating enzyme level... |
ORPHA:35706 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Arthrogryposis, Distal, Type 2A |
|
Polyhydramnios, Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion contrac... |
OMIM:193700 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Short stature, Polyuria, Nephrogenic diabetes insipidus, Megacystis, Hypertonic dehydration, Hype... |
OMIM:125800 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Enlarged epiphyses, Abnormal circulating C-reactive protein con... |
ORPHA:1159 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
Leukodystrophy, Hypomyelinating, 17 |
|
Growth delay, Flexion contracture, Kyphoscoliosis |
OMIM:618006 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hallux valgus, Hyperactivity, Short stature, Kyphoscoliosis, Aggressive behavior, Abnormal repeti... |
OMIM:615541 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Short stature, Kyphoscoliosis, Cryptorchidism, Obesity, Upper eyelid edema, Hip dy... |
ORPHA:412035 |
Arthrogryposis, Distal, Type 3 |
|
Decreased hip abduction, Lumbar hyperlordosis, Camptodactyly of finger, Thoracolumbar scoliosis, ... |
OMIM:114300 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Achilles tendon contracture, Mildly elevated creatine kinase, Kyphoscoliosis |
ORPHA:370980 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Dysphagia, Increased susceptibility to fractures, Dystonia, Abnormal posturing |
OMIM:304700 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Neutropeni... |
OMIM:271510 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Head titubation, Aminoaciduria, Abnormality of the vertebral column, Dystonia, Lethargy, Failure ... |
OMIM:250620 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Short stature, Bowing of the legs, Reduced bone mineral density, Platyspon... |
OMIM:617974 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... |
ORPHA:247585 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Severe Canavan Disease |
|
Lethargy, Oral-pharyngeal dysphagia, Joint stiffness |
ORPHA:314911 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
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Diabetes mellitus, Short stature, Anorexia, Megaloblastic anemia, Lethargy, Thrombocytopenia |
ORPHA:49827 |
Methylmalonic Aciduria, Cblb Type |
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Methylmalonic acidemia, Pancytopenia, Ketonuria, Thrombocytopenia, Hyperammonemia, Methylmalonic ... |
OMIM:251110 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
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Lethargy, Lower-limb joint contracture |
OMIM:613710 |
Familial Hypoaldosteronism |
|
Hyponatremia, Renal salt wasting, Decreased urinary potassium, Hyperkalemia, Proximal renal tubul... |
ORPHA:427 |
Whistling Face Syndrome, Recessive Form |
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Shoulder flexion contracture, Kyphoscoliosis, Short neck, Elbow flexion contracture, Knee flexion... |
OMIM:277720 |
Secondary Short Bowel Syndrome |
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Low plasma citrulline, Abnormal blood ion concentration, Dehydration, Weight loss, Central hypoth... |
ORPHA:95427 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Cerebral calcification, Increased level of hippuric acid in urine... |
OMIM:261600 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Small for gestational age, Edema, Neonatal death, Lethargy, Brachydactyly |
OMIM:610498 |
Microphthalmia, Isolated, With Coloboma 3 |
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Cataract, Iris coloboma |
OMIM:610092 |
Infantile Systemic Hyalinosis |
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Osteopenia, Severe short stature, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joi... |
ORPHA:2176 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
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Short stature, Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelv... |
ORPHA:2370 |
Nemaline Myopathy 7 |
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Lumbar hyperlordosis, Kyphoscoliosis, Knee flexion contracture |
OMIM:610687 |
Diarrhea 1, Secretory Chloride, Congenital |
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Hyponatremia, Polyhydramnios, Dehydration, Hypochloremia, Growth delay, Hyperactive renin-angiote... |
OMIM:214700 |
Developmental And Epileptic Encephalopathy 41 |
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Nephrocalcinosis, Flexion contracture |
OMIM:617105 |
Glut1 Deficiency Syndrome 1 |
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Choreoathetosis, Paroxysmal dystonia, Paroxysmal lethargy, Lethargy |
OMIM:606777 |
Chorea, Remitting, With Nystagmus And Cataract |
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Cataract |
OMIM:601372 |
Epiphyseal Chondrodysplasia, Miura Type |
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Osteopenia, Epiphyseal dysplasia, Arachnodactyly, Broad hallux, Fifth finger distal phalanx clino... |
OMIM:615923 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Hypogonadism-Cataract Syndrome |
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Male hypogonadism, Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level |
OMIM:240950 |
Pseudoleprechaunism Syndrome, Patterson Type |
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Diabetes mellitus, Abnormal odontoid process morphology, Abnormal limb epiphysis morphology, Kyph... |
ORPHA:2976 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
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Sideroblastic anemia, Growth delay, Dysphagia, Lethargy, Failure to thrive |
OMIM:613561 |
3-Methylglutaconic Aciduria Type 7 |
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Renal insufficiency, Cataract, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Hypothy... |
ORPHA:445038 |
Anterior Segment Dysgenesis 8 |
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Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
46,Xy Sex Reversal 3 |
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Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Central Core Disease |
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Joint laxity, Multiple joint contractures, Congenital hip dislocation, Elevated circulating creat... |
ORPHA:597 |
Carnitine Deficiency, Systemic Primary |
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Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Dehydr... |
OMIM:212140 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
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Short stature, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Hyp... |
OMIM:618120 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Osteopenia, Long toe, Arachnodactyly, Short stature, Kyphoscoliosis, Cryptorchidism, Flexion cont... |
ORPHA:75496 |
Spastic Paraplegia 20, Autosomal Recessive |
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Short stature, Kyphoscoliosis, Flexion contracture, Hyperextensible hand joints, Dysphagia, Urina... |
OMIM:275900 |
Brown-Vialetto-Van Laere Syndrome 2 |
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Kyphoscoliosis, Aggressive behavior, Split hand, Organic aciduria, Scoliosis, Dysphagia |
OMIM:614707 |
Rothmund-Thomson Syndrome |
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Calcinosis, Juvenile cataract, Malar rash, Skin rash |
ORPHA:2909 |
N-Acetylglutamate Synthase Deficiency |
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Hyperglutamatemia, Aggressive behavior, Hyperammonemia, Lethargy, Failure to thrive |
OMIM:237310 |
Congenital Myopathy 23 |
|
Flexion contracture, Kyphoscoliosis |
OMIM:609285 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
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Nephrocalcinosis |
OMIM:615633 |
Waardenburg Syndrome, Type 2A |
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White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Hip Dysplasia, Beukes Type |
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Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Lesch-Nyhan Syndrome |
|
Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Testicular atrophy, Podagra |
OMIM:300322 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Increased intervertebral space, Metaphyseal widening, Irregular vertebral endplates, T lymphocyto... |
OMIM:607944 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
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Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Short stature, Kyphosco... |
OMIM:615349 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... |
ORPHA:470 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
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Joint contracture, Kyphoscoliosis |
OMIM:617977 |
Rothmund-Thomson Syndrome Type 1 |
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Calcinosis, Developmental cataract, Hypogonadism, Juvenile cataract, Hypothyroidism |
ORPHA:221008 |
Thyrotoxic Periodic Paralysis |
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Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Spondylometaphyseal Dysplasia, Schmidt Type |
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Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Severe short stature, Ab... |
ORPHA:93316 |
Diarrhea 4, Malabsorptive, Congenital |
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Failure to thrive, Dehydration |
OMIM:610370 |
Weismann-Netter Syndrome |
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Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the t... |
ORPHA:3344 |
Tempi Syndrome |
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Transudative pleural effusion, Abnormality of the kidney, Increased hematocrit, Ascites, Polycyth... |
ORPHA:284227 |
Cataract 11, Multiple Types |
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Cataract, Developmental cataract |
OMIM:610623 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Uruguay Faciocardiomusculoskeletal Syndrome |
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Hallux valgus, Congenital hip dislocation, Elevated circulating creatine kinase concentration, Li... |
OMIM:300280 |
Gracile Bone Dysplasia |
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Failure to thrive, Short stature, Asplenia, Flared metaphysis, Hypoplastic spleen, Decreased skul... |
OMIM:602361 |
Cholera |
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Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... |
ORPHA:173 |
Osteogenesis Imperfecta, Type Xi |
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Osteopenia, Joint laxity, Short stature, Recurrent fractures, Kyphoscoliosis, Protrusio acetabuli... |
OMIM:610968 |
Ane Syndrome |
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Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... |
ORPHA:157954 |
Hemorrhagic Fever-Renal Syndrome |
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Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Chronic kidney disease, Elevated circulating ... |
ORPHA:340 |
Congenital Disorder Of Glycosylation, Type Ig |
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Short humerus, Short femur, Small for gestational age, Hypospadias, Polyhydramnios, Edema, Sandal... |
OMIM:607143 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
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Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco... |
ORPHA:1145 |
Joubert Syndrome 18 |
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Joint laxity, Trident pelvis, Bowing of the long bones, Kyphoscoliosis, Postaxial polydactyly, Ho... |
OMIM:614815 |
Homocystinuria Without Methylmalonic Aciduria |
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Lethargy, Failure to thrive |
ORPHA:622 |
Tatton-Brown-Rahman Syndrome |
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Bipolar affective disorder, Kyphoscoliosis, Proportionate short stature, Aggressive behavior, Cry... |
ORPHA:404443 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
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Abnormal circulating biopterin concentration, Maturity-onset diabetes of the young, Hyperphenylal... |
ORPHA:1578 |
Scholte Syndrome |
|
Kyphoscoliosis, Acromicria, Small hand, Patellar hypoplasia, Short foot, Micropenis, Decreased te... |
OMIM:300977 |
Isovaleric Acidemia |
|
Pancytopenia, Hyperglycinuria, Dehydration, Leukopenia, Lethargy, Thrombocytopenia |
OMIM:243500 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Choreoathetosis, Abnormal erythrocyte morphology, Lethargy, Dystonia |
ORPHA:71277 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Kyphoscoliosis |
OMIM:619099 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Edema, Osteoporosis, Rickets, Weight loss, Growth delay, Iron deficiency anemia |
ORPHA:309031 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Tremor, Choreoathetosis, Dystonia, Hyperalan... |
OMIM:312170 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Decreased circulating cortisol level, Renal salt wasting, Dehydration, Premature adrenarche, Hypo... |
ORPHA:90794 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Cataract, Proteinuria, Type II diabetes mellitus, Abnormal c... |
ORPHA:225 |
Parkinson-Dementia Syndrome |
|
Tremor, Kyphoscoliosis |
OMIM:260540 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
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Edema |
OMIM:612097 |
Galloway-Mowat Syndrome 7 |
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Diffuse mesangial sclerosis, Hallux valgus, Proteinuria, Arachnodactyly, Edema, Minimal change gl... |
OMIM:618348 |
Pyruvate Carboxylase Deficiency |
|
Anorexia, Tremor, Dehydration, Compulsive behaviors, Hypoglutaminemia, Apathy, Elevated plasma ci... |
ORPHA:3008 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema |
OMIM:619319 |
Cataract-Nephropathy-Encephalopathy Syndrome |
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Renal tubular dysfunction, Cataract |
ORPHA:1380 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level |
OMIM:620126 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
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Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Large for gestational age, Os... |
OMIM:615398 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Tremor, Splenomegaly, Reduced bo... |
ORPHA:667 |
Myopathy, Myofibrillar, 2 |
|
Cataract, Elevated circulating creatine kinase concentration, Limb-girdle muscle weakness, Quadri... |
OMIM:608810 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Edema, Anorexia, Leukocytosis, Hyperammonemia, Dehydration, Weight loss, Apathy, Hyper... |
ORPHA:134 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium |
OMIM:611489 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Dehydration, Hyperaldosteronism, Increased circulating renin level |
OMIM:620125 |
Isolated Atp Synthase Deficiency |
|
Short stature, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Hypogonadism, Dysto... |
ORPHA:254913 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting |
OMIM:613743 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Hammertoe, Upper limb postural tremor, Kyphoscoliosis, Action tremor |
OMIM:180800 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive |
ORPHA:26 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Cataract, Centrally nucleated skeletal... |
OMIM:301075 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Kyphoscoliosis, Tremor, Horseshoe kidney, Dysphagia, Choreoathetosis, Dystonia, Joint contracture |
OMIM:617664 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... |
OMIM:229600 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... |
OMIM:259600 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Methylmalonic aciduria, Dehydration, Hyperhomocystinemia, Elevated circulating palmito... |
OMIM:251120 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Polyhydramnios, Tremor, Flexion contracture, Neutropenia, Dehydration, Opisthotonus, ... |
OMIM:616271 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Reynolds Syndrome |
|
Calcinosis, Calcinosis cutis, Hyperbilirubinemia, Erythema nodosum |
OMIM:613471 |
Raine Syndrome |
|
Increased bone mineral density, Hydroureter, Bowing of the long bones, Short stature, Short neck,... |
OMIM:259775 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Hyperphenylalaninemia, Tremor, Dysphagia, Choreoathetosis, Dystonia, Lethargy |
OMIM:233910 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Early Myoclonic Encephalopathy |
|
Lethargy, Dysphagia |
ORPHA:1935 |
Timothy Syndrome |
|
Pneumonia, Hypothyroidism, Hypocalcemia |
OMIM:601005 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Renal Hypoplasia |
|
Renal insufficiency, Recurrent urinary tract infections, Small for gestational age, Proteinuria, ... |
ORPHA:93101 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Small han... |
ORPHA:254531 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short stature, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal wideni... |
OMIM:300232 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy, Dystonia |
OMIM:617829 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Juvenile cataract, Developmental cataract |
ORPHA:221016 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... |
OMIM:184100 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Dystonia-Deafness Syndrome 1 |
|
Generalized dystonia, Small for gestational age, Hypoplastic scapulae, Femoral retroversion, Kyph... |
OMIM:607371 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy, Dystonia |
OMIM:618224 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Hip contracture, Bowing of the long bones, Congenital kyphoscoliosis, Arachnodactyly,... |
OMIM:121050 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Periorbital ... |
ORPHA:904 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Calcinosis cutis, Nephrocalc... |
OMIM:259900 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Dystonia, Growth delay, Dysphagia, Lethargy, Failure to thrive |
OMIM:618226 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Acne, Premature thelarche, Renal salt w... |
ORPHA:90795 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Elevated hepatic iron con... |
ORPHA:231222 |
Holocarboxylase Synthetase Deficiency |
|
Anorexia, Hyperammonemia, Weight loss, Growth delay, Organic aciduria, Lethargy, Thrombocytopenia |
ORPHA:79242 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Recurrent fractures, Short stature, Increased circulating gonadot... |
ORPHA:2410 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Metaphyseal widening, Renal neoplasm, Arachnodactyly, Os... |
ORPHA:536467 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Elevated circulating creatine kina... |
ORPHA:42 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Kyphoscoliosis, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly,... |
OMIM:252930 |
Familial Cold Urticaria |
|
Arthritis, Polydipsia, Dehydration |
ORPHA:47045 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Cartilage-Hair Hypoplasia |
|
Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibial bowing, H... |
ORPHA:175 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s... |
ORPHA:363528 |
Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Postaxial polydactyly, Kyphoscoliosis |
OMIM:612913 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Renal salt wasting, Bone-mar... |
ORPHA:275761 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Weight loss, Opisthotonus, Increased susceptibility to fractures, Attention... |
ORPHA:216866 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Edema, Anorexia, Leukocytosis, Dehydration, Weight loss, Hyperammonemia, Leukopenia, 3... |
ORPHA:20 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Severe short st... |
OMIM:231070 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Fas... |
ORPHA:769 |
Chst3-Related Skeletal Dysplasia |
|
Short metacarpal, Rhizomelia, Kyphoscoliosis, Flexion contracture, Disproportionate short-trunk s... |
ORPHA:263463 |
X-Linked Immunoneurologic Disorder |
|
Myopathy, Functional abnormality of the bladder, Cataract |
ORPHA:2571 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... |
ORPHA:103910 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Kyphoscoliosis, Splenomegaly, Oligosacchariduria, Scoliosis, Camptodactyly, Clinodactyly, Brachyd... |
OMIM:616354 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Short stature, Tremor, Splenomegaly, Decreased serum zinc, Hypogonadism, Lethargy, Decreased seru... |
OMIM:201100 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Acrootoocular Syndrome |
|
Short metacarpal, Small for gestational age, Abnormal finger flexion crease, Decreased response t... |
ORPHA:2980 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Neph... |
OMIM:276700 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Hyperglycinuria, Opisthotonus,... |
OMIM:605711 |
Thyroid Dyshormonogenesis 1 |
|
Growth delay, Lethargy, Hypothyroidism, Goiter |
OMIM:274400 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets, Stage 5 chronic kidney disease, Proteinuria |
OMIM:219900 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... |
ORPHA:2394 |
Monosomy 18P |
|
Generalized dystonia, Short stature, Kyphoscoliosis, Short neck, Lymphedema, Hypothyroidism, Brac... |
ORPHA:1598 |
Generalized Arterial Calcification Of Infancy |
|
Hyperphosphaturia, Medial calcification of large arteries, Cerebral calcification, Adrenal calcif... |
ORPHA:51608 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Small for gestational age, Rocker bottom foot, Camptodactyly of finger, Kyphoscoliosis, Growth de... |
OMIM:610756 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Arachnodactyly, Short stature, Kyphoscoliosis, Metatarsus adductus, Cryptorchidism, Postnatal gro... |
OMIM:612513 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Diabetes mellitus, Hyperthyroidism, Elevated circulating creatine kinase concentr... |
ORPHA:254892 |
Ichthyosis--Cheek--Eyebrow Syndrome |
|
Kyphoscoliosis |
OMIM:146720 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Extramedullary hematopoiesis, Short stature, Pancytopenia, Thromb... |
OMIM:259720 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Lethargy, Dystonia |
OMIM:246900 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Me... |
OMIM:618476 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Kyphoscoliosis, Coxa va... |
OMIM:617425 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Kyphoscoliosis, Short stature, Spl... |
OMIM:604168 |
Griscelli Syndrome Type 1 |
|
Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Iris hypopigmentation |
ORPHA:79476 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Corneal ero... |
OMIM:203780 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Polyhydramnios, Short neck, Flexion contracture, Hand tremor, Acanthocytosis, ... |
OMIM:618947 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Postural tremor, Oculogyric crisis, Focal dystonia, Bradykinesia, Limb dyst... |
ORPHA:101150 |
Emanuel Syndrome |
|
Sacral dimple, Multiple joint contractures, Congenital hip dislocation, Unilateral renal agenesis... |
ORPHA:96170 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Polyhydramnios, Dehydration |
OMIM:616069 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Neurogenic bladder, Detrusor sphincter dyssynergia, Urinary incontinence, Ky... |
ORPHA:466722 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Lymphedema, Generalized joint laxity, Flexion contractur... |
ORPHA:536471 |
Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... |
ORPHA:226316 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Increased urinary glycerol, Small for gestational age, Hypertriglyceri... |
OMIM:307030 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Hypoglycosylation of alpha-dystroglycan, Cataract, Elevated circulating creatine kinase concentra... |
OMIM:615352 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Failure to thrive, Elbow contracture |
OMIM:611523 |
Staphylococcal Necrotizing Pneumonia |
|
Diabetes mellitus, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocyto... |
ORPHA:36238 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Thyroidi... |
ORPHA:64744 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Decreased serum insulin-like growth factor 1, Hyperactivity, Short stature, Elevated ... |
OMIM:608747 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Short stature, Kyphoscoliosis, Fle... |
ORPHA:35173 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Kyphoscoliosis |
OMIM:271200 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Proportionate short stat... |
ORPHA:71212 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Gastritis, Facial palsy, Hyperkalemia, Renal tubular epithelial necrosis, Re... |
ORPHA:31826 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Reduced bone mineral density, Tibial bowing, Iron deficiency anemia, Abnor... |
ORPHA:93315 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Nephrolithiasis, Stage 5 chronic kidney diseas... |
ORPHA:79259 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri... |
ORPHA:93357 |
Huntington Disease-Like 1 |
|
Restlessness, Depression, Abnormal shoulder morphology, Bradykinesia, Weight loss, Abnormal postu... |
ORPHA:157941 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures,... |
ORPHA:3409 |
Williams-Beuren Syndrome |
|
Osteopenia, Flexion contracture, Nephrocalcinosis, Early onset of sexual maturation, Vesicoureter... |
OMIM:194050 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Growth delay, Dehydration |
OMIM:251850 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Oliguria, Hyper... |
ORPHA:466650 |
Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Coffin-Siris Syndrome 6 |
|
Short stature, Kyphoscoliosis, Tics, Attention deficit hyperactivity disorder, Clinodactyly, Abno... |
OMIM:617808 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exercise-induced rhabdomyolysis, Inflammatory abnormality of the skin, Elevated circulating creat... |
ORPHA:26793 |
Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Anorexia, Hemolytic-uremic syndrome, Leukocytosis, Ur... |
ORPHA:810 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up... |
ORPHA:99885 |
Pyruvate Dehydrogenase Deficiency |
|
Tremor, Osteolytic defects of the middle phalanx of the 4th toe, Growth delay, Choreoathetosis, D... |
ORPHA:765 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Decreased circulating progesterone, Primary gonadal insufficiency, Lethargy |
OMIM:603896 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Failure to thrive in infancy, Wide anterior fontanel, Hyperprolinemia, Hyperalaninemia, Lethargy |
OMIM:619064 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Small for gestational age, Short stature, Megaloblastic ane... |
OMIM:277380 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit... |
ORPHA:85435 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Short stature, Hyperlipidemia, Glycosuria, Lethargy, Failure to thrive |
ORPHA:2089 |
Autosomal Agammaglobulinemia |
|
Osteomyelitis, Dehydration, Arthritis, Neutropenia, Failure to thrive |
ORPHA:33110 |
Joint Laxity, Short Stature, And Myopia |
|
Kyphoscoliosis, Short stature, Cervical kyphosis, Joint hypermobility |
OMIM:617662 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Decreased circulating c... |
ORPHA:361 |
Pseudoachondroplasia |
|
Limited hip extension, Delayed epiphyseal ossification, Osteoarthritis, Metaphyseal widening, Fra... |
OMIM:177170 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Failure to thrive in infancy, Elevated circulating creatine kinase... |
OMIM:610377 |
Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Agitation, Hyperalaninemia, Failure to t... |
ORPHA:927 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Galactosemia I |
|
Cataract, Hypergonadotropic hypogonadism, Increased level of galactitol in plasma, Albuminuria, A... |
OMIM:230400 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Charcot-Marie-Tooth Disease Type 4D |
|
Hammertoe, Split hand, Postural tremor, Kyphoscoliosis |
ORPHA:99950 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Ab... |
ORPHA:666 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Short stature, Kyphoscoliosis, Aggressive behavior, 2-3 toe syndactyly, Scoliosis,... |
ORPHA:391307 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Hallux valgus, Thoracic scoliosis, Diabetes mellitus, Hypertriglyceridemia, Sacral di... |
ORPHA:536532 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal wi... |
OMIM:271640 |
Harlequin Ichthyosis |
|
Limitation of joint mobility, Dehydration, Self-injurious behavior, Hand polydactyly, Foot polyda... |
ORPHA:457 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... |
OMIM:617396 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Short stature, Osteoporosis, Hi... |
OMIM:616507 |
Oligomeganephronia |
|
Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal agenesis, Glomerulo... |
ORPHA:2260 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Small for gestational age, Short stature, Postnatal growth retardation, Osteoporos... |
ORPHA:73272 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Kyphoscoliosis |
OMIM:117850 |
Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... |
OMIM:612964 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Osteoporosis... |
OMIM:219080 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria |
OMIM:615026 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Equinus calcaneus, Hypocalcemia, Lethargy |
ORPHA:746 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Diabetes mellitus, Pneumonia, Myocarditis, Pancreatitis, Hyperkalemia, Olig... |
ORPHA:544482 |
Monosomy 13Q34 |
|
Hypercalcemia, Fetal pyelectasis, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly... |
ORPHA:96168 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cataract, Iris coloboma |
OMIM:120433 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Kyphoscoliosis |
OMIM:605588 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Short neck, Abnormality of the endocrine system, Cryptorchidism, Pseudoh... |
ORPHA:464288 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... |
OMIM:277400 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thyroid lymphangiectasia, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis |
OMIM:235255 |
Digeorge Syndrome |
|
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hypot... |
OMIM:188400 |
Leukodystrophy, Hypomyelinating, 3 |
|
Joint contracture, Failure to thrive, Kyphoscoliosis |
OMIM:260600 |
Charcot-Marie-Tooth Disease Type 1A |
|
Kyphoscoliosis |
ORPHA:101081 |
Rahman Syndrome |
|
Cryptorchidism, Kyphoscoliosis, Camptodactyly |
OMIM:617537 |
Gaucher Disease Type 1 |
|
Osteopenia, Anorexia, Osteoarthritis, Pedal edema, Leukopenia, Increased bone mineral density, Pe... |
ORPHA:77259 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Short stature, Recurrent fractures, Elevated circulating creatine kinase concentrat... |
ORPHA:2785 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Megalo... |
ORPHA:79282 |
Sarcoidosis |
|
Increased T cell count, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hypothyroidis... |
ORPHA:797 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration, Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Renal insufficiency |
ORPHA:254857 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Abnormal toe morphology, Obesity, Kyphoscoliosis, Dystonia |
ORPHA:459033 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Edema, Tremor, Clubbing of fingers, Scoliosis, Dysphagia |
OMIM:619574 |
Familial Mediterranean Fever |
|
Pericarditis, Proteinuria, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Nephrocalcinosis, Ne... |
ORPHA:342 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Renal cyst, Dislocated radial head, Joint laxity, Hypospadias, Short stat... |
OMIM:102500 |
Primary Dystonia, Dyt4 Type |
|
Eunuchoid habitus, Torticollis, Generalized dystonia, Upper limb postural tremor, Kyphoscoliosis,... |
ORPHA:98805 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... |
OMIM:610489 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert... |
ORPHA:96184 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoargininemia, Hyperglutaminemia, Low plasma... |
OMIM:615751 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Knee flexion contractur... |
OMIM:608836 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Opisthotonus, Elevated urinary 3-methylcrotonylglycine level, Fa... |
OMIM:210200 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, Hypospadias, Kyphoscoliosis, Tapered finger, Coxa valga, Cryptorchidism, Kyphosis... |
OMIM:301040 |
Leprechaunism |
|
Skeletal muscle atrophy, Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Ne... |
ORPHA:508 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hyperammonemia, Hyperornithinemia, Lethargy, Failure to thrive, Homocitrullinuria |
OMIM:238970 |
Enteric Anendocrinosis |
|
Type I diabetes mellitus, Dehydration |
ORPHA:83620 |
Methionine Malabsorption Syndrome |
|
White hair, Blue irides, Positive ferric chloride test |
OMIM:250900 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology |
ORPHA:3411 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Axial Osteomalacia |
|
Increased bone mineral density, Elevated circulating creatine kinase concentration, Osteomalacia,... |
OMIM:109130 |
Microphthalmia, Syndromic 13 |
|
Short stature, Kyphoscoliosis |
OMIM:300915 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Hyperinsulinemia,... |
ORPHA:230 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201910 |
Larsen-Like Syndrome |
|
Joint laxity, Short stature, Kyphoscoliosis, Wide anterior fontanel, Radial deviation of the 4th ... |
OMIM:608545 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Renal cyst, Lethargy, Hypospadias, Cryptorchidism, Wide anterior f... |
OMIM:614866 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Kyphoscoliosis, Polyhydramnios, Rhizomelic arm shortening, Abnormal fibular epiphysis morphology,... |
ORPHA:96190 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow... |
OMIM:619503 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Lethargy |
OMIM:618225 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Ketonuria, Hyperammonemia, Dehydration, Growth delay, Failure to thrive |
OMIM:615453 |
Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Abnormal pancreas morphology, Cryptorchidism |
ORPHA:2849 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Edema, Abnormal blood ion concentration, Dehydration, Renal cyst, Aplasia/Hyp... |
ORPHA:79404 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Hyper... |
ORPHA:2969 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hypothyroidism, Hypoparathyroidism, Osteoporosis, Hep... |
ORPHA:231226 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Low plasma citrulline, Cerebral edema, Hyperammonemia, Episodic ammonia intoxication, Lethargy, F... |
OMIM:237300 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Tremor, Bruxism, Dysphagia, Choreoathetosis, Growth delay, Lumbar kyphoscoliosis, Dystonia, Clino... |
OMIM:619422 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Polyhydramnios, Anterior tibial bowing, Delayed epiphyseal... |
OMIM:114290 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... |
OMIM:171400 |
Cyclic Vomiting Syndrome |
|
Growth delay, Lethargy, Attention deficit hyperactivity disorder, Anorexia |
OMIM:500007 |
Citrullinemia Type I |
|
Torticollis, Hyperammonemia, Elevated plasma citrulline, Lethargy, Failure to thrive |
ORPHA:247525 |
Galactokinase Deficiency |
|
Cataract, Hypergonadotropic hypogonadism, Hyperinsulinemia, Increased level of galactitol in plas... |
ORPHA:79237 |
Pseudoxanthoma Elasticum |
|
Cerebral calcification, Acne, Skin rash, Nephrocalcinosis, Hypothyroidism |
ORPHA:758 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Short stature, Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum |
OMIM:255710 |
Kniest Dysplasia |
|
Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartilage collage... |
OMIM:156550 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal renal morphology, Hypocalcemia, Micropenis, Hypoproteinemia, Hydronephrosis |
ORPHA:1655 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Methylmalonic aciduria, Hyperhom... |
OMIM:277410 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Kyphoscoliosis, Short neck, Tapered finger, Elbow flexion contracture, Opisthotonus, ... |
OMIM:272430 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... |
OMIM:610475 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia |
OMIM:618107 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Abnormal circulating creatine kinase concentrat... |
OMIM:615838 |
Distal Deletion 12Q |
|
Ectopic kidney, Short neck, Aplasia/Hypoplasia of the middle phalanx of the 3rd finger, Clinodact... |
ORPHA:96149 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Hammertoe, Split hand, Kyphoscoliosis |
OMIM:118220 |
Cardiomyopathy, Dilated, 1Ii |
|
Cataract, Elevated circulating creatine kinase concentration |
OMIM:615184 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Abnormal renal physiology |
ORPHA:2290 |
Monosomy 18Q |
|
Arachnodactyly, Joint hypermobility, Kyphoscoliosis, Tapered finger, Bilateral cryptorchidism, Hy... |
ORPHA:1600 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Short stature, Abnormality of cartilage of external ear, Hypocalcemia, Failur... |
ORPHA:3426 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Split hand, Kyphoscoliosis |
OMIM:607831 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Diabetes mellitus,... |
OMIM:606069 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Skeletal muscle atrophy, Cataract, Elevated circulating creatine kinase concentration, Delayed pu... |
OMIM:615704 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Acrorenal-Mandibular Syndrome |
|
Hemivertebrae, Aplasia of the bladder, Hypoplasia of the ulna, Split hand, Split foot, Oligohydra... |
OMIM:200980 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hypothyroidism, Hypoparathyroidism, Anemia of inadequate production... |
ORPHA:231214 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Hammertoe, Split hand, Kyphoscoliosis |
OMIM:604563 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla... |
OMIM:143095 |
Microsporidiosis |
|
Osteomyelitis, Cachexia, Anorexia, Abnormality of the spleen, Abnormality of the parathyroid glan... |
ORPHA:2552 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic aciduria, Hyper... |
ORPHA:79284 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Sacral dimple, Brachydactyly, Short stature, Kyphoscoliosis, Cryptorchidism, Clinodactyly, Partia... |
OMIM:616331 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Kyphoscoliosis, Shor... |
OMIM:309583 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy |
OMIM:618683 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Severe short stature, Kyphoscoliosis,... |
OMIM:184253 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Beta-Thalassemia |
|
Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome... |
ORPHA:848 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Edema, Leukocytosis, Neutropenia, Lethargy, Ascites, Thr... |
ORPHA:391673 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98793 |
Warburg Micro Syndrome 3 |
|
Kyphoscoliosis, Postnatal growth retardation, Flexion contracture, Clinodactyly of the 5th finger... |
OMIM:614222 |
Galactose Mutarotase Deficiency |
|
Cataract, Hypergalactosemia |
ORPHA:570422 |
Idiopathic Intracranial Hypertension |
|
Back pain, Lethargy, Obesity, Depression |
ORPHA:238624 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98754 |
De Barsy Syndrome |
|
Osteopenia, Congenital hip dislocation, Short stature, Kyphoscoliosis, Postnatal growth retardati... |
ORPHA:2962 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Failure to thrive |
OMIM:618228 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:618117 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Kyphoscoliosis, Dystonia |
OMIM:616684 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Kyphoscoliosis, Flexion contracture, Joint hypermobility |
OMIM:616470 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating... |
ORPHA:79126 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177904 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... |
OMIM:614129 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Hematuria, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Joint laxity, Hip contracture, Duplicated collecting system, Overlapping toe, Rocker bottom foot,... |
ORPHA:488642 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abn... |
ORPHA:970 |
Seckel Syndrome 8 |
|
Short stature, Kyphoscoliosis, Ectopic kidney |
OMIM:615807 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177901 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Overlapping toe, Abnormality of the kidney, Polyhydramnios, Cryptorchidism, Reduced bone mineral ... |
ORPHA:466926 |
Marburg Hemorrhagic Fever |
|
Back pain, Reticulocytosis, Renal insufficiency, Lymphopenia, Elevated circulating creatine kinas... |
ORPHA:99826 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... |
ORPHA:231580 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of t... |
ORPHA:231625 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Reticulocytosis, Kyphoscoliosis, Acanthocyto... |
ORPHA:14 |
Meningococcal Meningitis |
|
Renal insufficiency, Stiff neck, Elevated circulating C-reactive protein concentration, Anorexia,... |
ORPHA:33475 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... |
ORPHA:90038 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Anterior wedging of L1, Lumbar... |
OMIM:253200 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Sinusitis, Aplasia of the thymus, Pneumonia, Atypical or prol... |
ORPHA:83471 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Joint laxity, Thoracic scoliosis, Torticollis, Kyphoscoliosis, Metatarsus adductus, Postnatal gro... |
ORPHA:300570 |
Ogden Syndrome |
|
Torticollis, Broad hallux, Postnatal growth retardation, Cryptorchidism, Scoliosis, Lethargy |
ORPHA:276432 |
Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Cervical kyphosis, Craniosynostosis, Kyphoscoliosis, Tapered finger, Cryptorchidism, Generalized ... |
ORPHA:2953 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Severe short stature, Hypospadias, Severe generalized osteoporosis, Kyphoscolios... |
OMIM:210730 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Rhyns Syndrome |
|
Osteopenia, Renal insufficiency, Radial bowing, Short stature, Decreased response to growth hormo... |
OMIM:602152 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:617690 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Kyphoscoliosis, Split hand, Hammertoe, Scoliosis |
OMIM:145900 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Splenom... |
OMIM:263200 |
Sotos Syndrome |
|
Ureteral duplication, Tremor, Flexion contracture, Pedal edema, Vesicoureteral reflux, Hypothyroi... |
ORPHA:821 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Hammertoe, Split hand, Kyphoscoliosis |
OMIM:118200 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Congenital Contractural Arachnodactyly |
|
Congenital kyphoscoliosis, Arachnodactyly, Camptodactyly of finger, Joint stiffness, Flexion cont... |
ORPHA:115 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Abnormally ossified ... |
ORPHA:94068 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Myoglobinuria, Dehydration |
OMIM:602199 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Kyphoscoliosis |
OMIM:300886 |
Free Sialic Acid Storage Disease |
|
Failure to thrive in infancy, Proteinuria, Splenomegaly, Hydrops fetalis, Reduced bone mineral de... |
ORPHA:834 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Ketonuria, Hyperglycinuria, Hyperammonemia, Opisthotonus, Organic aciduria,... |
OMIM:210210 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Urinary incontinence, Dysphagia, Titubation, Bradykinesia, Dystonia, Abnormal pos... |
ORPHA:225147 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Hyposegmentation of neutrophil nuclei, Self-i... |
OMIM:620075 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Kyphoscoliosis, Tremor, Focal dystonia, Blepharospasm, Bradykinesia, Inappropriate behavior, Trem... |
ORPHA:99750 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, O... |
OMIM:259770 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchidism, Distal widening... |
OMIM:602535 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... |
OMIM:612310 |
Carnitine Palmitoyltransferase I Deficiency |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Renal ... |
OMIM:255120 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
Pituitary Adenoma 4, Acth-Secreting |
|
Edema, Kyphosis, Pituitary adenoma, Osteoporosis, Increased circulating ACTH level, Obesity, Neph... |
OMIM:219090 |
Congenital Myasthenic Syndrome |
|
Joint laxity, Neuropathic spinal arthropathy, Congenital hip dislocation, Kyphoscoliosis, Polyhyd... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Joint laxity, Neuropathic spinal arthropathy, Congenital hip dislocation, Kyphoscoliosis, Polyhyd... |
ORPHA:98914 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillb... |
OMIM:614922 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Postnatal growth r... |
OMIM:313400 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Lethargy, Hemolytic an... |
ORPHA:447 |
Tetrasomy 15Q26 |
|
Arachnodactyly, Kyphoscoliosis, Horseshoe kidney, Camptodactyly, Intrauterine growth retardation,... |
OMIM:614846 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Short neck, Reticulocytopenia, Leukopenia, Triphalangeal thumb, Neutropeni... |
ORPHA:124 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Nephrocalcinosis, Hypercalciuria, Cataract, Renal dysplasia |
OMIM:300990 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Palpebral edema, Kyphoscoliosis, Oligosacchariduria, Hepatospleno... |
ORPHA:397709 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Sandal gap, Thoracolumbar scoliosis, Kyphoscoliosis, Recurrent shoulder dislocatio... |
ORPHA:230851 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Short palm, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kypho... |
OMIM:249420 |
Glucose/Galactose Malabsorption |
|
Failure to thrive, Hypertonic dehydration, Glycosuria |
OMIM:606824 |
Maple Syrup Urine Disease |
|
Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in... |
OMIM:248600 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Abnormality... |
ORPHA:314478 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Truncal titubation, Dysphagia, Opisthotonus, Dystonia, Lethargy, Craniofacial dystonia, Action tr... |
OMIM:607483 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619203 |
Beckwith-Wiedemann Syndrome |
|
Adrenocortical cytomegaly, Diastasis recti, Adrenocortical carcinoma, Nephrolithiasis, Renal cort... |
OMIM:130650 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... |
OMIM:304120 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Flexion contracture, Ethylmalonic aciduria, Scoliosis, Lethargy, Failure to thrive |
OMIM:201470 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Alobar Holoprosencephaly |
|
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Short s... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Short s... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Short s... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Limb dystonia, Diabetes insipidus, Decreased response to growth hormone stimulation test, Short s... |
ORPHA:220386 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619665 |
Congenital Tufting Enteropathy |
|
Arthritis, Failure to thrive, Dehydration, Weight loss |
ORPHA:92050 |
Multifocal Atrial Tachycardia |
|
Cryptorchidism, Hypothyroidism, Lethargy |
ORPHA:3282 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, 2-ethylhydracylic aciduria |
OMIM:610006 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... |
OMIM:400045 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... |
OMIM:273250 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... |
ORPHA:2235 |
Netherton Syndrome |
|
Short stature, Ectopic kidney, Dehydration, Aminoaciduria, Hydronephrosis |
ORPHA:634 |
Birt-Hogg-Dubé Syndrome |
|
Parathyroid adenoma, Renal cell carcinoma, Medullary thyroid carcinoma |
ORPHA:122 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Adrenomyodystrophy |
|
Short stature, Primary adrenal insufficiency, Megacystis, Reduced bone mineral density, Abnormali... |
ORPHA:977 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... |
OMIM:218700 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Polyhydramnios, Large for gestational age, Vesicoureteral reflux, Nephropat... |
ORPHA:116 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Cataract, Hypospadias, Hyperthyroidism, Acne, Seborrheic dermatitis, Chronic ... |
ORPHA:567 |
Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature graying of hair, Iris hypop... |
ORPHA:79477 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Hypospadias, Recurrent fractures, Kyphoscoliosis, Ectopic kidney, Arachnodactyly, Crypt... |
ORPHA:3063 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Hammertoe, Claw hand deformity, Kyphoscoliosis |
OMIM:601455 |
Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Small for gestational age, Short stature, Kyphoscoliosis, Cryptorchid... |
OMIM:268400 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Bilatera... |
ORPHA:96179 |
Lamellar Ichthyosis |
|
Renal insufficiency, Short stature, Dehydration |
ORPHA:313 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Failure to thrive, 4-hydroxyphenylacetic aciduria, Polyhydramnios, Conjugated h... |
OMIM:617156 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Short neck, Polyhydramnios, Large for gestational age, Coxa valga, Limitation of ... |
ORPHA:254519 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Self-injurious behavior, Agitation, Kyphoscoliosis |
OMIM:618339 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Polyhydramnios, Coxa valga, Long fingers, Splenomegaly, Flexion contracture |
OMIM:608149 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Polyhydramnios, Large for gestational age, Short neck, Flexion contracture, Hemivertebrae, Tibial... |
ORPHA:96334 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Anorexia, Pericardial effusion, Splenomegaly, Bone cyst, Enlarged lacrimal glands, ... |
OMIM:181000 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Gyrate Atrophy Of Choroid And Retina |
|
Hyperornithinemia, Aminoaciduria, Cataract, Subcapsular cataract |
ORPHA:414 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Aminoaciduria |
OMIM:616084 |
Melnick-Needles Syndrome |
|
Short humerus, Ureteral stenosis, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae,... |
OMIM:309350 |
Hennekam Syndrome |
|
Camptodactyly of finger, Ectopic kidney, Horseshoe kidney, Hypocalcemia, Erysipelas |
ORPHA:2136 |
Schinzel-Giedion Syndrome |
|
Short neck, Renal cyst, Tibial bowing, Micropenis, Myeloid leukemia, Streak ovary, Hypospadias, W... |
ORPHA:798 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Cerebral calcification, Adrenal hyperplasia, Cataract, Primary adrenal insuff... |
ORPHA:3453 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism, Contractures of the large joints, Abnormal thumb morphology, Kyphoscoliosis |
ORPHA:324410 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Hyponatremia... |
OMIM:619991 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Renal interst... |
ORPHA:91500 |
46,Xx Gonadal Dysgenesis |
|
Osteopenia, Streak ovary, Arachnodactyly, Short stature, Increased circulating gonadotropin level... |
ORPHA:243 |
Dengue Fever |
|
Leukopenia, Lethargy, Ascites, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
Citrullinemia, Classic |
|
Failure to thrive, Hypoargininemia, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxicat... |
OMIM:215700 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Posterior embryotoxon, Hypocalcemia |
OMIM:192430 |
Cranioectodermal Dysplasia 1 |
|
Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti... |
OMIM:218330 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Absence of renal corticom... |
OMIM:120330 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... |
ORPHA:48818 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Cataract, Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5... |
OMIM:614376 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Limb joint contracture, Hypospadias, Adrenal hypoplasia, Polyhydramnios, Ky... |
OMIM:275210 |
Alternating Hemiplegia Of Childhood |
|
Anorexia, Oral-pharyngeal dysphagia, Tremor, Aggressive behavior, Impulsivity, Dehydration, Dysph... |
ORPHA:2131 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Joint stiffness, Flexion contracture, Reduced bone mineral density, Weight loss, Type I... |
ORPHA:1979 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Tremor, Wide penis, Hypoplasti... |
ORPHA:3455 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Coxa valga,... |
ORPHA:263508 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Short neck, Kyphosis, Reduced bone mineral density, Genu valgum, Hypogonadis... |
ORPHA:2983 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Hammertoe, Kyphoscoliosis |
OMIM:214400 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Hypospadias, Rocker bottom... |
ORPHA:163979 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Cataract, Seborrheic dermatitis, Renal cyst, Uveitis, Conjunc... |
ORPHA:488618 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hypospadias, Hydronephrosis |
OMIM:300712 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Short stature, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Spinal ... |
ORPHA:582 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Kyphoscoliosis, Short stature, Hip dislocation, Horseshoe kidney |
ORPHA:101003 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Stage 5 chr... |
OMIM:308940 |
Congenital Short Bowel Syndrome |
|
Failure to thrive, Dehydration |
OMIM:615237 |
Neonatal Severe Primary Hyperparathyroidism |
|
Short stature, Recurrent fractures, Abnormality of the thyroid gland, Splenomegaly, Abnormal circ... |
ORPHA:417 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:600649 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Renal tubular acidosis, Lethargy, Transient hyperlipidemia |
ORPHA:156 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Exercise-induced myogl... |
OMIM:201475 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmalonic aciduria,... |
OMIM:275350 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Trisomy 8P |
|
Multiple joint contractures, Fetal pyelectasis, Nephrocalcinosis, Astigmatism, Micropenis, Hetero... |
ORPHA:264450 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Joint laxity, Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, P... |
ORPHA:96191 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Joint laxity, Hallux valgus, Kyphoscoliosis, Aggressive behavior, Tremor, Cryptorchidism, Kyphosi... |
OMIM:300967 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Diabetes mellitus, Proximal tubulopathy, Intrauterine growth retardatio... |
ORPHA:2609 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Episodic Ataxia Type 1 |
|
Choreoathetosis, Kyphoscoliosis, Scoliosis |
ORPHA:37612 |
Floating-Harbor Syndrome |
|
Short neck, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Compulsive behaviors, Dislocate... |
ORPHA:2044 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Organic aciduria, Lethargy, Elevated urinary 3-methylcrotonylglycine level, 3-hyd... |
OMIM:253270 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
Vici Syndrome |
|
Lymphopenia, Elevated circulating creatine kinase concentration, Postnatal growth retardation, Dy... |
OMIM:242840 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Ovarian fibroma, Down-sloping shoulders, Kyphoscoliosis, Irregular ossification... |
OMIM:109400 |
Camurati-Engelmann Disease |
|
Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cort... |
ORPHA:1328 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Lethargy, Limb dystonia |
OMIM:604377 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citru... |
OMIM:311250 |
Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
Arthrogryposis And Ectodermal Dysplasia |
|
Diabetes mellitus, Short stature, Kyphoscoliosis, Camptodactyly, Arthrogryposis multiplex congeni... |
OMIM:601701 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Polyhydramnios, Gonadotropin deficiency, H... |
OMIM:214800 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Failure to thrive, Congenital hip dislocation, Ankle flexion contracture, Polyhy... |
ORPHA:2020 |
Caudal Duplication |
|
Abnormal penis morphology, Cryptorchidism, Uterus didelphys |
ORPHA:1756 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Nephrocalcinosis |
OMIM:260400 |
Loeys-Dietz Syndrome 5 |
|
Failure to thrive in infancy, Arachnodactyly, Kyphoscoliosis, Short stature, Osteoarthritis, Cerv... |
OMIM:615582 |
Typhoid |
|
Tremor, Splenomegaly, Lethargy |
ORPHA:99745 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev... |
OMIM:154230 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Uterus didelphys |
ORPHA:2491 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Short stature, Kyphoscoliosis, Postnatal growth retardati... |
ORPHA:2834 |
Argininosuccinic Aciduria |
|
Hypoargininemia, Hyperglutaminemia, Oroticaciduria, Hyperammonemia, Episodic ammonia intoxication... |
OMIM:207900 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of th... |
ORPHA:2470 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphos... |
OMIM:225400 |
Mccune-Albright Syndrome |
|
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... |
OMIM:174800 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Absent vas deferens, Hypospadias, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of ex... |
ORPHA:93111 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormality of the vertebral column, Urinary bladder sphincter dysfunction, Abnormality of the ki... |
ORPHA:53721 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level, Hypoplasia of the ovary, Bico... |
OMIM:615300 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy, Medium chain dicarboxylic aciduria, Hyperglycinuria, Cerebral edema |
OMIM:201450 |
Nail-Patella Syndrome |
|
Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hy... |
ORPHA:2614 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Lethargy, Hyperglycinemia |
OMIM:614299 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Reduced C-peptide level, Pancreatic aplasia, Exocrine pancreatic insuffici... |
OMIM:260370 |
Pseudo-Torch Syndrome 2 |
|
Abnormal renal corticomedullary differentiation, Lethargy, Pleural effusion, Ascites, Thrombocyto... |
OMIM:617397 |
Martinez-Frias Syndrome |
|
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... |
OMIM:601346 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Congenital kyphoscoliosis, Congenital hip dislocation, Arachnodactyly, Kyphoscoliosis... |
ORPHA:536545 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Hypoplasia of the ovary, Abnormality of the ... |
ORPHA:3130 |
Evans Syndrome |
|
Lethargy, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Auto... |
ORPHA:1959 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Mildly elevated creatine kinase |
OMIM:600705 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrolithiasis, Nephrocalcinosis, Macroglossia, Micropenis, Hydronephrosis, Renal duplication |
OMIM:268310 |
Dend Syndrome |
|
Clinodactyly of the 4th finger, Elevated hemoglobin A1c, Dehydration |
ORPHA:79134 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Werner Syndrome |
|
Low back pain, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Short stature, O... |
OMIM:277700 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Increased serum beta-hexosaminidase, Metaphyseal widening, Thoracolumbar kyphoscolios... |
OMIM:252500 |
Donnai-Barrow Syndrome |
|
Bicornuate uterus, Abnormality of the uterus |
ORPHA:2143 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,... |
OMIM:163950 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal ci... |
OMIM:620306 |
Anauxetic Dysplasia 3 |
|
Short metacarpal, Severe short stature, Thoracolumbar kyphoscoliosis, Metaphyseal cupping, Wide a... |
OMIM:618853 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Multicystic kidney dysplasia, Brachydactyly, Small for gest... |
ORPHA:97360 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... |
ORPHA:159 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
Osteogenesis Imperfecta, Type Xx |
|
Kyphoscoliosis, Multiple prenatal fractures, Disproportionate short-limb short stature, Intrauter... |
OMIM:618644 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirubinemia, Annular pan... |
OMIM:615710 |
Floating-Harbor Syndrome |
|
Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Clin... |
OMIM:136140 |
Scrub Typhus |
|
Tremor, Splenomegaly, Renal insufficiency, Lethargy |
ORPHA:83317 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:212138 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Generalized dystonia, Aggressive behavior, Dystonia, Lethargy, Cerebral edema |
OMIM:618321 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Cataract, Proteinuria, Diabetes mellitus, Rec... |
ORPHA:33001 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Hydranencephaly |
|
Stiff neck, Postnatal growth retardation, Opisthotonus, Intrauterine growth retardation, Lethargy... |
ORPHA:2177 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Central Neurocytoma |
|
Lethargy, Depression |
ORPHA:73256 |
Leopard Syndrome 1 |
|
Hypospadias, Short stature, Limited elbow movement, Unilateral renal agenesis, Short neck, Crypto... |
OMIM:151100 |
Infantile Liver Failure Syndrome 2 |
|
Lethargy, Hyperammonemia |
OMIM:616483 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Short stat... |
OMIM:616113 |
Xp21 Deletion Syndrome |
|
Joint laxity, Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine ... |
ORPHA:261476 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Abnormality of hair pigmentation, Decreased LDL cho... |
OMIM:618156 |
Renal Hypodysplasia/Aplasia 3 |
|
Abnormality of the uterus |
OMIM:617805 |
Cirrhosis, Familial |
|
Increased level of propylene glycol in blood, Ascites, Lethargy, Increased level of L-fucose in u... |
OMIM:215600 |
Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Proportionate short stature, Precocious puberty, Short toe, Obesity, Cone-shaped epip... |
OMIM:619269 |
Pontocerebellar Hypoplasia, Type 10 |
|
Kyphoscoliosis, Tapered finger, Short neck, Cryptorchidism, Growth delay |
OMIM:615803 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Short st... |
OMIM:617052 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Joint laxity, Hallux valgus, Anterior pituitary hypoplasia, Supernumerary nipple, Kyphoscoliosis,... |
ORPHA:466791 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Postural tremor, Short stature, Kyphoscoliosis, Growth delay, Pollakisuria, Urinary retention |
ORPHA:447760 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Hyperparathyroidism, Short femur, Recurrent fractures, Polyhydramnios, Unilateral ren... |
OMIM:618188 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
Susac Syndrome |
|
Lethargy, Apathy |
ORPHA:838 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Hyperhomocystinemia, Cystathioninemia, Lethargy, Failure to thrive, Homocystin... |
ORPHA:395 |
Encephalitis Lethargica |
|
Tremor, Lethargy, Stiff neck, Urinary incontinence |
ORPHA:83600 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Hypothyroidism, ... |
ORPHA:3206 |
Isotretinoin-Like Syndrome |
|
Hypocalcemia |
ORPHA:2306 |
Sandifer Syndrome |
|
Anemia, Torticollis, Abnormal posturing, Decreased cervical spine mobility |
ORPHA:71272 |
Omodysplasia 2 |
|
Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasia, Micropenis |
OMIM:164745 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Lethargy |
OMIM:618232 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... |
ORPHA:99429 |
Amoebiasis Due To Free-Living Amoebae |
|
Restlessness, Stiff neck, Intrarenal abscess, Abnormality of the adrenal glands, Lethargy, Increa... |
ORPHA:68 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Hepatomegaly, Facial palsy, Aplasia/Hypoplasia of the ... |
ORPHA:456312 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Hyperphenylalaninemia |
ORPHA:79254 |
Nail-Patella Syndrome |
|
Keratoconus, Biceps aplasia, Renal insufficiency, Proteinuria, Glomerulonephritis, Cataract, Abse... |
OMIM:161200 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Bicornuate uterus |
OMIM:263210 |
Partial Androgen Insensitivity Syndrome |
|
Fused labia majora, Bifid scrotum, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... |
ORPHA:90797 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary |
ORPHA:247768 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... |
ORPHA:90793 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Joint laxity, Overlapping toe, Short stature, Kyphoscoliosis, Bilateral cryptorchidism, Knee flex... |
OMIM:617402 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Cataract, Adrenal hyperplasia, Congenital hypo... |
ORPHA:79500 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Elevated circulating creatinine concentration, Biliary tract abnormality, Hypoplasia... |
OMIM:137920 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Pancreatitis, Hereditary |
|
Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency |
OMIM:167800 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti... |
OMIM:619381 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Abnormal erythrocyte morphology,... |
ORPHA:288 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Anorexia, Lymphedema, Hyperlipid... |
ORPHA:324 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Kyphoscoliosis, Polyhydramnios, Atlantoaxial instability, Bladder diverticulum |
OMIM:614557 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... |
OMIM:616843 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots |
ORPHA:100 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... |
ORPHA:231720 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hypospadias, Splenomegaly, Lacticaciduria, Growth delay, Lethargy... |
OMIM:252010 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Increased urinary gl... |
ORPHA:247598 |
Denys-Drash Syndrome |
|
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... |
OMIM:194080 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Biotinidase Deficiency |
|
Splenomegaly, Organic aciduria, Lethargy, Hyperammonemia |
OMIM:253260 |
Pmm2-Cdg |
|
Osteopenia, Multiple joint contractures, Lymphedema, Elevated circulating thyroid-stimulating hor... |
ORPHA:79318 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Large for gestational age, Ky... |
ORPHA:457359 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Optic nerve hypoplasia, Vaginal atresia |
OMIM:617914 |
Incontinentia Pigmenti |
|
Short stature, Eosinophilia, Supernumerary nipple, Kyphoscoliosis, Leukocytosis, Hemivertebrae, B... |
OMIM:308300 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries |
OMIM:615363 |
Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Vaginal atresia |
OMIM:191830 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Reduced bone mineral density, Vertebr... |
ORPHA:2911 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Skeletal muscle atrophy, Rieger anomaly, Cataract, Proteinuria, Hypo... |
OMIM:609049 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Nail-biting, Dystonia, Sandal gap, Short neck, Aggressive behavior, Long fingers, H... |
OMIM:620330 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Kyphoscoliosis, Bilateral cryptorchidism, Hip dislocation, Micropenis, Hip dysplasia, Camptodacty... |
OMIM:617403 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Dysphagia, Lethargy, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Osteogenesis Imperfecta, Type Iv |
|
Short stature, Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduced bone mineral... |
OMIM:166220 |
Congenital Myopathy 13 |
|
Short stature, Kyphoscoliosis, Cryptorchidism, Flexion contracture, Scoliosis |
OMIM:255995 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Streak ovary, Hypospadias, Kyphoscoliosis, Joint stiffness, Cryptorchidism, Chordee, ... |
OMIM:618820 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Hyperbilirubinemia |
OMIM:609734 |
Coloboma, Ocular, Autosomal Recessive |
|
Iris coloboma, Cataract, Lens subluxation |
OMIM:216820 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Lumbar hyperlordosis, Failure to thrive in infancy, Arachnodactyly, Sagittal ... |
ORPHA:500150 |
Cystic Fibrosis |
|
Recurrent pneumonia, Bronchiectasis, Hypercalciuria, Chronic sinusitis, Pancreatitis |
OMIM:219700 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypergonadotropic hypogonadism, Hypospadias, Elevated circulating luteinizing hormone level, Shor... |
ORPHA:90796 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Short stature, Recurrent fractures, Vertebral compression fracture, Reduced bone mine... |
OMIM:112240 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Hyperammonemia, Hyperornithinemia, Lethargy, Oroticaciduria, Abnormal circulat... |
ORPHA:415 |
Trichinellosis |
|
Edema, Facial edema, Periorbital edema, Apathy, Dysphagia, Lethargy |
ORPHA:863 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus |
OMIM:619151 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
Relapsing Polychondritis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Cataract, Proteinuria, Pericarditis, Chondriti... |
ORPHA:728 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Cataract, Camptodactyly of finger, Eczema, Band keratopat... |
OMIM:186580 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Neurogenic bladder, Low back pain, Hypospadias, Ur... |
ORPHA:573278 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Recurrent urinary tract infections, Sacral dimple, Short metacarpal, Brachydactyly, Polyhydramnio... |
OMIM:617157 |
Hereditary Chronic Pancreatitis |
|
Jaundice, Recurrent pancreatitis, Pancreatic calcification, Elevated circulating C-reactive prote... |
ORPHA:676 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Short stature, Kyphoscoliosis, Renal hypoplasia/aplasia, Hyperlordosis, Abnormal tibia morphology... |
ORPHA:363700 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hypocalcemia, Clinodactyly of the 5th finger, Micropenis, Hypothyr... |
OMIM:243800 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Leukocytosis, Lethargy, Pleural effusion, Failure to thrive |
OMIM:620233 |
Intermediate Uveitis |
|
Anterior uveitis, Cataract, Psoriasiform dermatitis, Band keratopathy, Tubulointerstitial nephrit... |
ORPHA:279914 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Netherton Syndrome |
|
Hypernatremic dehydration, Angioedema, Failure to thrive, Hypereosinophilia |
OMIM:256500 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy, Increased urinary glycerol |
OMIM:229700 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Lymphedema, Ectopic kidney, Short neck, Reduced bone mineral density, Hashimoto thyro... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Lymphedema, Ectopic kidney, Short neck, Reduced bone mineral density, Hashimoto thyro... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Lymphedema, Ectopic kidney, Short neck, Reduced bone mineral density, Hashimoto thyro... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Lymphedema, Ectopic kidney, Short neck, Reduced bone mineral density, Hashimoto thyro... |
ORPHA:881 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
You-Hoover-Fong Syndrome |
|
Clinodactyly, Paroxysmal bursts of laughter, Kyphoscoliosis, Brachydactyly |
OMIM:616954 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Reduced bone mineral density, Sc... |
ORPHA:1556 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hyperactivity, Hypospadias, Short stature, Kyphoscoliosis, Short neck, Tapered finger, Cryptorchi... |
OMIM:309580 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Tremor, Kyphoscoliosis, Scoliosis |
ORPHA:99956 |
Kufor-Rakeb Syndrome |
|
Oculogyric crisis, Urinary incontinence, Abnormal finger morphology, Blepharospasm, Bradykinesia,... |
ORPHA:306674 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Ambiguous genitalia, female, Bicornuate uterus |
OMIM:606408 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Bicornuate uterus, Shawl scrotum |
OMIM:145420 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... |
ORPHA:785 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Biotinidase Deficiency |
|
Lethargy, Organic aciduria, Hyperammonemia |
ORPHA:79241 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Finger clinodacty... |
ORPHA:79474 |
Marfan Syndrome |
|
Arachnodactyly, Protrusio acetabuli, Kyphoscoliosis, Equinus calcaneus, Metatarsus adductus, Prem... |
OMIM:154700 |
Primrose Syndrome |
|
Bilateral cryptorchidism, Flexion contracture, Knee flexion contracture, Reduced bone mineral den... |
OMIM:259050 |
Hand-Foot-Genital Syndrome |
|
Bicornuate uterus, Hypospadias, Abnormality of the uterus |
ORPHA:2438 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
Eisenmenger Syndrome |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration, Clubbing, Pedal edema... |
ORPHA:97214 |
Neurofibromatosis, Type I |
|
Short stature, Tibial pseudarthrosis, Genu valgum, Pheochromocytoma, Renal artery stenosis, Scoli... |
OMIM:162200 |
Histiocytoid Cardiomyopathy |
|
Renal cyst, Polycystic ovaries, Lethargy, Failure to thrive, Pulmonary edema |
ORPHA:137675 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, In... |
OMIM:619534 |
Medulloblastoma |
|
Back pain, Lethargy, Intention tremor |
ORPHA:616 |
3Q27.3 Microdeletion Syndrome |
|
Arachnodactyly, Kyphoscoliosis |
ORPHA:397695 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Hyperuricemia, Hepatocellular ca... |
OMIM:232220 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Prune Belly Syndrome |
|
Cryptorchidism, Abnormality of the uterus, Decreased testicular size, Urogenital sinus anomaly |
ORPHA:2970 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Clinodactyly of the 5th finger, Kyphoscoliosis, Brachydactyly |
OMIM:620237 |
Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis |
OMIM:140000 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas m... |
ORPHA:449432 |
Duplication Of Urethra |
|
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... |
ORPHA:237 |
Oeis Complex |
|
Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Posterior embryotoxon, Cataract, Hypertriglyceridemia, Band keratop... |
OMIM:118450 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... |
ORPHA:3322 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... |
OMIM:609441 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia |
OMIM:211890 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Conjugated hyperbilirubinemia, J... |
OMIM:208500 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Acro-Renal-Mandibular Syndrome |
|
Bicornuate uterus, Uterus didelphys |
ORPHA:958 |
Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... |
ORPHA:3464 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... |
ORPHA:238468 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s... |
OMIM:601186 |
Fryns Syndrome |
|
Aganglionic megacolon, Cryptorchidism, Bicornuate uterus, Hypospadias |
ORPHA:2059 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test |
OMIM:615866 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Cataract, Band keratopathy, Primary adrenal insufficiency, Hepatitis, Thymoma, K... |
OMIM:269200 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Hydroureter, Hypospadias, Lumbar hyperlordosis, Kyphoscoliosis, Renal hypoplasia/apla... |
OMIM:309800 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Hepatomegaly, Small scrotum, Hypospadias, Aganglionic megacolon, Septate vagina, P... |
OMIM:270400 |
Donnai-Barrow Syndrome |
|
Bicornuate uterus |
OMIM:222448 |
Meckel Syndrome |
|
Accessory spleen, True hermaphroditism, Pancreatic fibrosis, Asplenia, Cryptorchidism, Congenital... |
ORPHA:564 |
Pseudotrisomy 13 Syndrome |
|
Cryptorchidism, Micropenis, Bicornuate uterus |
OMIM:264480 |
Complete Atrioventricular Septal Defect |
|
Lethargy, Failure to thrive |
ORPHA:1329 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Clitoral hypertrophy |
OMIM:300707 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypop... |
OMIM:618419 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Abnormality of iron homeostasis, Uncombable hair, Woolly ... |
ORPHA:84064 |
Pallister-Killian Syndrome |
|
Edema of the dorsum of feet, Congenital hip dislocation, Polyhydramnios, Short neck, Flexion cont... |
OMIM:601803 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic fusion, Hypoplastic labia ... |
OMIM:269150 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Shawl scrotum, Hepatic steatosis, Exocrine p... |
OMIM:616263 |
Jacobsen Syndrome |
|
Hypospadias, Cryptorchidism, Optic atrophy, Clitoral hypoplasia, Labial hypoplasia, Annular pancreas |
OMIM:147791 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Aganglionic megacolon, Cryptorchidism, Bic... |
OMIM:229850 |
Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
Meacham Syndrome |
|
Accessory spleen, Septate vagina, Male pseudohermaphroditism, Blind vagina, Bicornuate uterus |
OMIM:608978 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas, Aganglionic megacolon |
ORPHA:210122 |
Basilar Impression, Primary |
|
Kyphoscoliosis, Short neck |
OMIM:109500 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Cataract, Abnormality of the kidney, Py... |
ORPHA:2036 |
Bohring-Opitz Syndrome |
|
Supernumerary nipple, Hyperechogenic pancreas |
OMIM:605039 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ambiguous genitalia, Pancreatic fibrosis |
OMIM:615503 |
Feingold Syndrome |
|
Abnormality of the spleen, Annular pancreas |
ORPHA:1305 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... |
OMIM:610199 |
Rhombencephalosynapsis |
|
Septo-optic dysplasia, Aganglionic megacolon, Abnormality of the uterus |
ORPHA:59315 |
Neurofibroma |
|
Enlargement of parotid gland, Spinal canal stenosis, Kyphoscoliosis |
ORPHA:252183 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypopigmentation of the skin, Abnormality of retinal pigmentation, Hypertriglycerid... |
ORPHA:167 |
Pagod Syndrome |
|
Abnormality of the spleen, Optic atrophy, Agonadism, Abnormality of the uterus, Ambiguous genital... |
ORPHA:991 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesi... |
OMIM:201750 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl scrotum |
ORPHA:2745 |
Alg9-Cdg |
|
Hepatomegaly, Periportal fibrosis, Hypoplasia of the ovary, Bicornuate uterus, Hypoplastic nipple... |
ORPHA:79328 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Asplenia, Cryptorchidism, Abnormal liver lobulation, Abnormality of the uter... |
ORPHA:99776 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... |
OMIM:214500 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level |
OMIM:110100 |
Fanconi Anemia |
|
Hypospadias, Aganglionic megacolon, Abnormal preputium morphology, Cryptorchidism, Azoospermia, A... |
ORPHA:84 |
Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency |
OMIM:617941 |
Acrocephalopolydactylous Dysplasia |
|
Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis, Polysplenia |
OMIM:200995 |
Bartsocas-Papas Syndrome 1 |
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Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... |
OMIM:263650 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Absent gallbladder, Micropenis, Uterus didelphys, Septate vagina |
OMIM:617925 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy |
OMIM:309801 |
Beaulieu-Boycott-Innes Syndrome |
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Endometriosis |
OMIM:613680 |
Atelosteogenesis Type I |
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Abnormal pancreatic duct morphology |
ORPHA:1190 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
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Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia |
ORPHA:140952 |
Pontocerebellar Hypoplasia Type 7 |
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Fatigable weakness of skeletal muscles, Abnormal scrotal rugation, Cryptorchidism, Optic atrophy,... |
ORPHA:284339 |
Chromosome 17Q12 Deletion Syndrome |
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Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
Koolen-De Vries Syndrome |
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Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
Glycine Encephalopathy |
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Lethargy, Hyperglycinemia |
ORPHA:407 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
Von Hippel-Lindau Syndrome |
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Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... |
OMIM:193300 |
Currarino Syndrome |
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Bicornuate uterus, Rectovaginal fistula, Septate vagina |
OMIM:176450 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
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Micropenis, Hypospadias, Endometriosis |
ORPHA:363444 |
Hermansky-Pudlak Syndrome |
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Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H... |
ORPHA:79430 |
Ulnar-Mammary Syndrome |
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Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Imperforate hymen, Bic... |
OMIM:181450 |
Autosomal Recessive Polycystic Kidney Disease |
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Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenit... |
ORPHA:731 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Pancreatic fibrosis, Micropenis, Hepatic fibrosis, Ambiguous genitalia |
OMIM:263520 |
Unilateral Polymicrogyria |
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Abnormal posturing, Pseudobulbar paralysis |
ORPHA:268943 |
Ring Chromosome 7 Syndrome |
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Hypospadias, Short stature, Prominent crus of helix, Small hand, Genu valgum, Hydrocele testis, L... |
ORPHA:1449 |
Exstrophy-Epispadias Complex |
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Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
Acrofacial Dysostosis, RodrÃguez Type |
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Abnormality of the uterus |
ORPHA:1788 |
Fanconi Anemia, Complementation Group D2 |
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Cryptorchidism, Annular pancreas, Hypergonadotropic hypogonadism, Micropenis |
OMIM:227646 |
Ulnar-Mammary Syndrome |
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Hypoplasia of penis, Cryptorchidism, Breast aplasia, Abnormality of the uterus, Hypoplastic nipples |
ORPHA:3138 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Cryptorchidism, Annular pancreas, Optic atrophy, Hypospadias |
OMIM:616975 |
Prader-Willi Syndrome |
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Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... |
OMIM:176270 |
Brittle Cornea Syndrome |
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Abnormality of hair pigmentation |
ORPHA:90354 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... |
ORPHA:163746 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... |
ORPHA:572333 |
Bohring-Opitz Syndrome |
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Cholelithiasis, Annular pancreas, Optic atrophy |
ORPHA:97297 |
Fraser Syndrome |
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Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen... |
ORPHA:2052 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
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Annular pancreas |
OMIM:618162 |
Hydrolethalus Syndrome 1 |
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Accessory spleen, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Abnormal vagina morphology |
OMIM:236680 |
1P36 Deletion Syndrome |
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Hypoplasia of penis, Hypospadias, Abnormality of the spleen, Cryptorchidism, Optic atrophy, Abnor... |
ORPHA:1606 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Asplenia, Annular pancreas, Bicornuate uterus, Hypospadias |
OMIM:265380 |
Osteopetrosis, Autosomal Recessive 7 |
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Recurrent pneumonia, Hypocalcemic seizures |
OMIM:612301 |
Acrofacial Dysostosis 1, Nager Type |
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Bicornuate uterus, Aganglionic megacolon |
OMIM:154400 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Fraser Syndrome 1 |
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Hypospadias, Cryptorchidism, Bicornuate uterus, Micropenis, Vaginal atresia, Clitoral hypertrophy |
OMIM:219000 |
Meckel Syndrome 14 |
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Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus |
OMIM:619879 |
Meckel Syndrome, Type 1 |
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Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Asplenia... |
OMIM:249000 |
Pineoblastoma |
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Lethargy, Pinealoma |
ORPHA:251909 |
Prader-Willi Syndrome Due To Translocation |
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Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... |
ORPHA:177907 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
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Hypopigmentation of hair, Ocular albinism, Iris hypopigmentation |
ORPHA:2719 |
Ehlers-Danlos Syndrome, Vascular Type |
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Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
Okamoto Syndrome |
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Splenomegaly, Bifid uterus |
ORPHA:2729 |
Jacobsen Syndrome |
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Cryptorchidism, Annular pancreas |
ORPHA:2308 |
Degcags Syndrome |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Lo... |
OMIM:619488 |
Feingold Syndrome 1 |
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Asplenia, Annular pancreas, Polysplenia, Accessory spleen |
OMIM:164280 |
Neu-Laxova Syndrome 1 |
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Cryptorchidism, Bifid uterus |
OMIM:256520 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
Townes-Brocks Syndrome 1 |
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Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
Limb-Mammary Syndrome |
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Absent nipple, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, Aplasia of the u... |
ORPHA:69085 |
Cowden Syndrome |
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Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Adenoma sebaceum, ... |
ORPHA:201 |
Vascular Ehlers-Danlos Syndrome |
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Hypospadias, Cryptorchidism, Cystocele, Hypokalemia, Uterine rupture, Uterine prolapse |
ORPHA:286 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Menkes Disease |
|
Sparse hair, Woolly hair, Hypopigmentation of hair |
ORPHA:565 |
Lacrimoauriculodentodigital Syndrome |
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Cryptorchidism, Abnormal salivary gland morphology, Bicornuate uterus, Lacrimal gland aplasia |
ORPHA:2363 |
Norrie Disease |
|
Cryptorchidism, Optic atrophy, Uterine rupture |
ORPHA:649 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus |
ORPHA:457284 |
Peters Plus Syndrome |
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Hypospadias, Cryptorchidism, Optic atrophy, Hypoplasia of the uterus, Clitoral hypoplasia, Anteri... |
ORPHA:709 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Biliary tract abnorm... |
OMIM:261540 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Uterus ... |
ORPHA:93271 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Renal Agenesis |
|
Absent vas deferens, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal eyelash morphology, Hypopigmentation of hair, Elevated circulating 7-dehydrocholesterol ... |
ORPHA:818 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Decreased serum iron, Precocious puberty, Cryptorchidism, Abnormality of the a... |
ORPHA:438213 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Thrombocytopenia-Absent Radius Syndrome |
|
Pancreatic cysts, Aplasia of the uterus, Hepatosplenomegaly |
OMIM:274000 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Biliary tract a... |
OMIM:268300 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Hepatopulmonary fusio... |
OMIM:618280 |
Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse |
OMIM:123700 |
Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus |
OMIM:614083 |
Pallister-Hall Syndrome |
|
Thyroid hypoplasia, Small scrotum, Hypospadias, Precocious puberty, Cryptorchidism, Adrenocortico... |
ORPHA:672 |
Classical Ehlers-Danlos Syndrome |
|
Uterine prolapse, Orthostatic hypotension, Cervical insufficiency |
ORPHA:287 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Abnormality of the ut... |
ORPHA:199 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Hypospadias, Precocious puberty, Cryptorchidism, Biliary tract abnormality, Apl... |
OMIM:194190 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Rectovagi... |
ORPHA:857 |
Coffin-Siris Syndrome 1 |
|
Cryptorchidism, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus |
OMIM:135900 |
Coffin-Lowry Syndrome |
|
Uterine prolapse |
OMIM:303600 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... |
OMIM:276820 |
Aneurysm-Osteoarthritis Syndrome |
|
Uterine prolapse |
ORPHA:284984 |
Loeys-Dietz Syndrome 3 |
|
Uterine prolapse, Cystocele |
OMIM:613795 |