Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Lipodystrophy, Reduced subcutaneous adipose tissue, Generalized lipodystrophy, Splenomegaly, Hype... |
OMIM:612526 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Anemia |
ORPHA:2668 |
Rhabdoid Tumor |
|
Hypercalcemia, Weight loss, Anemia, Thrombocytopenia |
ORPHA:69077 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia, Anemia, Thrombocytopenia |
ORPHA:2123 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:618883 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Failure to thrive, Hypercalcemia |
OMIM:239199 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Hypophosphatasia |
|
Hypercalcemia, Failure to thrive in infancy, Anemia |
ORPHA:436 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Blue Diaper Syndrome |
|
Hypercalcemia, Hyperphosphatemia, Increased body weight |
ORPHA:94086 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia |
OMIM:240150 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Infantile hypercalcemia, Chondrocalcinosis, Hypophosphatemia |
ORPHA:99879 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypercalcemia, Weight loss, Hypernatremia |
ORPHA:35710 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss, Infantile hypercalcemia |
OMIM:143880 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia, Chondrocalcinosis, Multiple lipomas |
OMIM:145981 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Splenomegaly, Hypocalcemia |
ORPHA:172 |
Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Hypocalcemia |
OMIM:615883 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Hyperparathyroidism, Neonatal Severe |
|
Hypercalcemia, Calcinosis, Failure to thrive, Anemia, Hypophosphatemia, Splenomegaly |
OMIM:239200 |
Refractory Celiac Disease |
|
Hypoproteinemia, Hypoalbuminemia, Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, W... |
ORPHA:398063 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity, Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Hypophosphatasia, Infantile |
|
Failure to thrive, Hypercalcemia, Anemia, Elevated plasma pyrophosphate |
OMIM:241500 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:2239 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypercalcemia, Macrocytic anemia, Normocytic anemia, Failure to thrive, Weight loss... |
ORPHA:199299 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Anemia, Hypocalcemia |
ORPHA:100025 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Weight loss |
ORPHA:94080 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia, Increased circulating cortisol level, Weight loss |
ORPHA:97289 |
Oculocerebrodental Syndrome |
|
Hypercalcemia, Enamel hypoplasia, Hypocalcemia |
ORPHA:557003 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Episodic hemolytic anemia, Abnormal dental enamel morphology, Increased blood urea... |
ORPHA:251004 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Small for gestational age, Splenomegaly, Hypocalcemia, Elbow flexion contracture |
OMIM:618440 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Hypermagnesemia, Multiple lipomas |
OMIM:600740 |
Familial Hypocalciuric Hypercalcemia |
|
Hypercalcemia, Chondrocalcinosis, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosp... |
ORPHA:405 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypocalcemia |
ORPHA:163693 |
Acute Adrenal Insufficiency |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Normocytic anemia, Failure to thrive, Weight loss, Hyp... |
ORPHA:95409 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly, Hypocalcemia |
OMIM:619658 |
Infantile Myofibromatosis |
|
Hypercalcemia, Chondrocalcinosis |
ORPHA:2591 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Uremic Pruritus |
|
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia |
ORPHA:94059 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:612089 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
X-Linked Agammaglobulinemia |
|
Neutropenia, Failure to thrive, Weight loss, Anemia, Hypocalcemia, Thrombocytopenia, Cellulitis |
ORPHA:47 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Elevated creatine kinase after exercise |
ORPHA:284426 |
Beta-Thalassemia |
|
Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Th... |
ORPHA:848 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia |
OMIM:617994 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Chondrocalcinosis, Hypokalemia, Small for gestational age, Increased serum prostag... |
OMIM:601678 |
Addison Disease |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Normocytic anemia, Failure to thrive, Weight loss, Thi... |
ORPHA:85138 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Multiple Myeloma |
|
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration, Weight loss, Anem... |
ORPHA:29073 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia, Hip contracture, Knee flexion contracture |
OMIM:156400 |
Somatostatinoma |
|
Hypercalcemia, Hypochromic microcytic anemia, Increased circulating cortisol level, Weight loss, ... |
ORPHA:97283 |
Vipoma |
|
Hypercalcemia, Hypokalemia, Increased circulating cortisol level, Normochromic anemia, Weight los... |
ORPHA:97282 |
Glucagonoma |
|
Hypercalcemia, Acanthocytosis, Increased circulating cortisol level, Normochromic anemia, Weight ... |
ORPHA:97280 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Hypokalemia, Anemia, Hypomagnesemia, Hypocalcemia |
OMIM:175500 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Mastocytosis |
|
Hypercalcemia, Acute leukemia, Chronic leukemia, Splenomegaly, Mastocytosis |
ORPHA:98292 |
Hepatocellular Carcinoma |
|
Hyponatremia, Hypercalcemia, Thrombocytosis, Hypokalemia, Polycythemia, Weight loss, Anemia, Hype... |
ORPHA:88673 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Weight loss |
ORPHA:276621 |
Parathyroid Carcinoma |
|
Hypercalcemia, Chondrocalcinosis, Weight loss, Hypophosphatemia, Infantile hypercalcemia, Lipoma |
ORPHA:143 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia, Increased circulating cortisol level, Weight loss, Lipoma, Multiple lipomas |
ORPHA:913 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Weight loss, Anemia, Hypomagnesemia, Reduced proportion of CD4+... |
ORPHA:90362 |
Ppoma |
|
Hypercalcemia, Increased circulating cortisol level, Weight loss, Subcutaneous lipoma |
ORPHA:97278 |
Ring Chromosome 10 Syndrome |
|
Cachexia, Hypocalcemia |
ORPHA:1438 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Increased circulating cortisol level, Subcutaneous lipoma |
OMIM:131100 |
Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Anemia, Splenomegaly, Hypocalcemia, Pancytopenia, Thrombocytopenia |
OMIM:259700 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Failure to thrive, Hypercalcemia |
ORPHA:476126 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Hyperbilirubinemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoiesi... |
OMIM:259720 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Hypocalcemia |
OMIM:606407 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia |
ORPHA:93324 |
Albers-Schönberg Osteopetrosis |
|
Anemia, Abnormal leukocyte morphology, Hypocalcemia |
ORPHA:53 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalcemia, Hypertriglyceridemia, Obesity |
ORPHA:369837 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:36913 |
Grfoma |
|
Hypercalcemia, Increased circulating cortisol level, Weight loss, Subcutaneous lipoma |
ORPHA:97261 |
Monosomy 13Q34 |
|
Obesity, Infantile hypercalcemia |
ORPHA:96168 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Anemia, Hypocalcemia |
OMIM:244460 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Lipoma |
ORPHA:99880 |
Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Failure to thrive, Weight loss, Enamel... |
OMIM:212750 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia, Weight loss |
ORPHA:29072 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Hyperphosphatemia |
ORPHA:94089 |
Kenny-Caffey Syndrome, Type 2 |
|
Small for gestational age, Anemia, Hypocalcemia, Transient hypophosphatemia, Hyperphosphatemia |
OMIM:127000 |
Familial Isolated Hypoparathyroidism |
|
Abnormal dental enamel morphology, Hypocalcemia |
ORPHA:2238 |
Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Increased circulating cortisol level, Hypophosphatemia |
ORPHA:249 |
Gracile Bone Dysplasia |
|
Failure to thrive, Hypoplastic spleen, Asplenia, Hypocalcemia |
OMIM:602361 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Small for gestational age, Elevated circulating creatine kinase concentration, I... |
ORPHA:26793 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Abnormal adipose tissue morphology, Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Diamond-Blackfan Anemia 6 |
|
Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:612561 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Small for gestational age, Hypocalcemia |
OMIM:607143 |
Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal... |
ORPHA:31824 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Failure to thrive, HbH hemoglobin, Microcytic anemia, Flexion contracture |
ORPHA:98791 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:618183 |
Hypophosphatemic Rickets |
|
Hypercalcemia, Failure to thrive, Hypophosphatemia, Odontodysplasia, Enthesitis |
ORPHA:437 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Abnormality of iron homeostasis, Elevated hepatic iron concentration, Erythroid hyp... |
ORPHA:231222 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Failure to thrive in infancy, Neutropenia, Cachexia, Neutropenia in p... |
ORPHA:37042 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemic seizures, Failure to thrive, Hypophosphatemia, Enamel hypoplasia, Hypocalcemia |
ORPHA:289157 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia, Increased circulating cortisol level, Subcutaneous lipoma |
ORPHA:276152 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypocalcemia |
OMIM:179800 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:241410 |
Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Failure to thrive in infancy, Hypochromic microcytic anemia, Spl... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Anisopoikilocytosis, Failure to thrive in infancy, Hypochromic m... |
ORPHA:231214 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Small for gestational age, Failure to thrive, Anemia, Persistence of hemoglobin F, A... |
OMIM:260400 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia |
ORPHA:99845 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Leukocytosis, Thrombocytosis, Hypernatremia, Elevated circulating cre... |
ORPHA:94093 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Primary hypercortisolism, Increased circulating cortisol level, Weight loss, Multi... |
ORPHA:652 |
Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Increased circulating myelocyte count, Elevated circulating creatine kinase conc... |
ORPHA:36234 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia, Reduced subcutaneous adipose tissue |
ORPHA:653 |
Sarcoidosis |
|
Hypercalcemia, Scarring, Leukopenia, Increased T cell count, Weight loss, Anemia, Thrombocytopeni... |
ORPHA:797 |
Pearson Syndrome |
|
Neutropenia, Hypokalemia, Small for gestational age, Hypophosphatemia, Anemia, Hyperalaninemia, H... |
ORPHA:699 |
Double Outlet Right Ventricle |
|
Failure to thrive, Hypocalcemia |
ORPHA:3426 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Failure to thrive, Elevated circula... |
ORPHA:411634 |
Pseudohypoparathyroidism, Type Ic |
|
Obesity, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia |
OMIM:612462 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Obesity,... |
ORPHA:79444 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Splenomegaly, Inguinal hernia, Hypocalcemia |
OMIM:235255 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Small for gestational age |
ORPHA:621 |
Sanjad-Sakati Syndrome |
|
Abnormal dental enamel morphology, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Pseudohypoparathyroidism, Type Ia |
|
Obesity, Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio |
OMIM:609057 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Hypocalcemia |
ORPHA:746 |
Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Hypomagnesemia, Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia |
ORPHA:73224 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Osteopetrosis With Renal Tubular Acidosis |
|
Leukopenia, Elevated circulating creatine kinase concentration, Failure to thrive, Anemia, Hypoca... |
ORPHA:2785 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Inguinal hernia |
ORPHA:1655 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Williams Syndrome |
|
Hypercalcemia, Failure to thrive in infancy, Abnormal circulating lipid concentration, Elevated c... |
ORPHA:904 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Obesity,... |
ORPHA:79443 |
Gitelman Syndrome |
|
Chondrocalcinosis, Primary hyperaldosteronism, Hypokalemia, Iron deficiency anemia, Failure to th... |
ORPHA:358 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Leukemia, Weight loss, Pure red cell aplasia, Aplastic anemia |
ORPHA:99867 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Small for gestational age, Failure to thrive, S... |
OMIM:613658 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Obesity, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:141750 |
Williams-Beuren Syndrome |
|
Hypercalcemia, Failure to thrive in infancy, Inguinal hernia, Flexion contracture, Obesity, Umbil... |
OMIM:194050 |
Cartilage-Hair Hypoplasia |
|
Anemia, Neutropenia, Failure to thrive, Hypocalcemia |
ORPHA:175 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hyperphosphatemia, Hypocalcemia |
ORPHA:428 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentrat... |
ORPHA:330015 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thrombocytopenia, Anemia, Hyperbilirubinemia, Hypocalcemia |
ORPHA:163979 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Hypocalcemic tetany, Coombs-positive hemolytic anemia, Fai... |
ORPHA:83471 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Hyponatremia, Leukocytosis, Hypocalcemia, Thrombocytopenia, Hemolytic anemia |
ORPHA:544482 |
Sotos Syndrome |
|
Hypercalcemia, Acute lymphoblastic leukemia, Ankle flexion contracture, Bilateral camptodactyly, ... |
ORPHA:821 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Velocardiofacial Syndrome |
|
Inguinal hernia, Umbilical hernia, Hypocalcemia |
OMIM:192430 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia, Umbilical hernia |
OMIM:301040 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin, Flexion contracture |
ORPHA:847 |
22Q11.2 Deletion Syndrome |
|
Failure to thrive, Obesity, Hypoplasia of the thymus, Abnormal dental enamel morphology, Inguinal... |
ORPHA:567 |
Exercise-Induced Malignant Hyperthermia |
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Hyperkalemia, Elevated circulating creatine kinase concentration, Hypocalcemia, Thrombocytopenia,... |
ORPHA:466650 |
Autosomal Recessive Malignant Osteopetrosis |
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Splenomegaly, Hypophosphatemia, Anemia, Hypocalcemia |
ORPHA:667 |
Igg4-Related Thyroid Disease |
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Hypocalcemia |
ORPHA:64744 |
Hennekam Syndrome |
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Splenomegaly, Lymphopenia, Camptodactyly of finger, Hypocalcemia |
ORPHA:2136 |
Acrodysostosis With Multiple Hormone Resistance |
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Obesity, Hyperphosphatemia, Hypocalcemia |
ORPHA:280651 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Hypocalcemic seizures, Hypocalcemia |
ORPHA:2237 |
Craniofacioskeletal Syndrome |
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Hypocalcemia |
OMIM:300712 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Hypocalcemic tetany, Anemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Cranioectodermal Dysplasia 1 |
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Enamel hypoplasia, Hypocalcemia |
OMIM:218330 |
Digeorge Syndrome |
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Umbilical hernia, Hypocalcemia, Obesity, Inguinal hernia, Femoral hernia |
OMIM:188400 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hip contracture, Failure to thrive, Reduced subcutaneous adipose tissue, Arthrogryposis multiplex... |
OMIM:619503 |
Visceral Steatosis, Congenital |
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Hypocalcemia |
OMIM:228100 |
Johanson-Blizzard Syndrome |
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Failure to thrive, Increased VLDL cholesterol concentration, Small for gestational age, Hypocalcemia |
OMIM:243800 |
Charge Syndrome |
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Omphalocele, Lymphopenia, Umbilical hernia, Hypocalcemia |
OMIM:214800 |
Mental Retardation, Fra12A Type |
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OMIM:136630 |