Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Photoreceptor layer loss on macular OCT, Anisocytosis, Retinal... |
OMIM:616959 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... |
OMIM:615631 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... |
OMIM:616860 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Hypervitaminosis A, Susceptibility To |
|
Papilledema, Hypercalcemia |
OMIM:240150 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... |
ORPHA:86841 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hypercalcemia |
ORPHA:2668 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:2123 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Schistocytosis, ... |
OMIM:224120 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Rhabdoid Tumor |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:69077 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Hypophosphatasia |
|
Anemia, Hypercalcemia |
ORPHA:436 |
Rh Deficiency Syndrome |
|
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... |
ORPHA:71275 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Total intestinal aganglionosis, Hearing impairment, Aganglio... |
OMIM:600501 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal motor ... |
ORPHA:320401 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Familial Isolated Hyperparathyroidism |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Anemia, Stillbirth, Hypercalcemia |
OMIM:241500 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
Alpha-Heavy Chain Disease |
|
Anemia, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Increased blood urea nitrogen, Abnormal retinal morphology on macular ... |
ORPHA:251004 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r... |
OMIM:258900 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Hypertensive retinopathy |
ORPHA:94080 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia, Hypertensive retinopathy |
OMIM:171420 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Facial palsy, EEG abnormality |
OMIM:617519 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
Oculocerebrodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Splenomegaly, Hypercalcemia, Calcinosis, Anemia |
OMIM:239200 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal optic disc pallor... |
ORPHA:1215 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly |
OMIM:619658 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Sensorineural hearing impairment, Retinal degeneration, Attenuation of retinal blood vessels, Geo... |
OMIM:619260 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia |
ORPHA:94059 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:612526 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Hypercalcemia, Infantile, 1 |
|
Infantile hypercalcemia |
OMIM:143880 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Splenomegaly |
ORPHA:172 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia |
OMIM:612089 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia, Splenomegaly |
OMIM:618440 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Optic atrophy, Anemia, Hypocalcemia |
ORPHA:53 |
Late-Onset Isolated Acth Deficiency |
|
Eosinophilia, Normocytic anemia, Macrocytic anemia, Hyponatremia, Hyperuricemia, Hypercalcemia |
ORPHA:199299 |
Mastocytosis |
|
Splenomegaly, Mastocytosis, Chronic leukemia, Hypercalcemia, Acute leukemia |
ORPHA:98292 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Heari... |
OMIM:601596 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia, Iron deficiency anemia |
ORPHA:89937 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... |
ORPHA:405 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... |
OMIM:618278 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Hypertensive retinopathy |
ORPHA:276621 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Pheochromocytoma |
|
Hypercalcemia, Hypertensive retinopathy |
OMIM:171300 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia,... |
ORPHA:95409 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hypoalbuminemia, Hyponatremia, Hyp... |
ORPHA:88673 |
Multiple Myeloma |
|
Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Anemia |
ORPHA:29073 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Papilledema, Retinal calcification, Hyperphosphatemia, Transient hypophosphatemia, ... |
OMIM:127000 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia, Splenomegaly, Optic atrophy, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:259700 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Hypokalemia, Hypomagnesemia, Hypocalcemia |
OMIM:175500 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepat... |
OMIM:259720 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Retinal capillary hemangioma, Hypercalcemia, Hypertensive retinopathy |
ORPHA:29072 |
Addison Disease |
|
Normocytic anemia, Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia,... |
ORPHA:85138 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia |
ORPHA:476126 |
Acrocraniofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials |
OMIM:201050 |
X-Linked Agammaglobulinemia |
|
Hypocalcemia, Anemia, Thrombocytopenia, Neutropenia |
ORPHA:47 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... |
ORPHA:90362 |
Congenital Erythropoietic Porphyria |
|
Splenomegaly, Anisocytosis, Leukopenia, Increased erythrocyte protoporphyrin concentration, Hemol... |
ORPHA:79277 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94089 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Abnormal blood ion con... |
ORPHA:31824 |
Monosomy 13Q34 |
|
Infantile hypercalcemia |
ORPHA:96168 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Vipoma |
|
Hypokalemia, Normochromic anemia, Hypercalcemia |
ORPHA:97282 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:249 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level, Hypercalcemia, Increased serum pr... |
OMIM:601678 |
Glucagonoma |
|
Hypercalcemia, Normochromic anemia, Acanthocytosis |
ORPHA:97280 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Hypocalcemia |
OMIM:618476 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Retinal detachment, Hypocalcemia |
OMIM:607143 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia |
OMIM:606407 |
Parathyroid Carcinoma |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
Somatostatinoma |
|
Hypercalcemia, Hypochromic microcytic anemia |
ORPHA:97283 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prolonged br... |
ORPHA:206443 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperphosphatemia, Hyperkalemia |
ORPHA:99845 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Leukocytosis, Elevated circulating creatine kinase concentration, H... |
ORPHA:94093 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypocalcemia, Splenomegaly,... |
ORPHA:37042 |
Gracile Bone Dysplasia |
|
Hypocalcemia, Hypoplastic spleen, Asplenia |
OMIM:602361 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hypocalcemia, Leukopenia, Elevated circulating creatine kinase concentration, Optic atrophy, Abno... |
ORPHA:2785 |
Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Cherry red spot of the macula, Optic atrophy, Hearing impair... |
ORPHA:206436 |
Arthrogryposis, Distal, Type 2A |
|
Hearing impairment, Abnormal auditory evoked potentials |
OMIM:193700 |
Ppoma |
|
Hypercalcemia |
ORPHA:97278 |
Adult Krabbe Disease |
|
EEG abnormality, Prolonged brainstem auditory evoked potentials |
ORPHA:206448 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia |
OMIM:618183 |
Charcot-Marie-Tooth Disease Type 1F |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Optic nerve hypoplasia, De... |
ORPHA:101085 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Hypocalcemia, Iron deficiency anemia, Macrocytic anemia |
OMIM:212750 |
Pearson Syndrome |
|
Hypomagnesemia, Neutropenia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Splenomegaly, Reticuloc... |
ORPHA:699 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia |
ORPHA:913 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Grfoma |
|
Hypercalcemia |
ORPHA:97261 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Hypocalcemia, Elevated circulating creatine kinase concent... |
ORPHA:36234 |
Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:437 |
Cholera |
|
Abnormal blood ion concentration, Hypokalemia, Hyponatremia, Hypocalcemia |
ORPHA:173 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Pigmentary retinopathy, Optic atrophy, Macrotia, Abnormality... |
ORPHA:90321 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:289157 |
Autosomal Dominant Hypocalcemia |
|
Optic atrophy, Hypomagnesemia, Hypocalcemia, Hyperphosphatemia |
ORPHA:428 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia, Pigmentary retinopathy |
ORPHA:746 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia |
ORPHA:276152 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Orthostatic hypot... |
ORPHA:99027 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... |
ORPHA:26793 |
Sarcoidosis |
|
Eosinophilia, Leukopenia, Hemolytic anemia, Hypercalcemia, Anemia, Thrombocytopenia, Increased T ... |
ORPHA:797 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia, Splenomegaly |
OMIM:235255 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Cerebrotendinous Xanthomatosis |
|
Optic neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Abnormal... |
ORPHA:909 |
Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypocalcemic tetany, Elevated circulating creatinine... |
ORPHA:411634 |
Cockayne Syndrome A |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... |
OMIM:216400 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Retinal calcification, Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic ... |
ORPHA:93325 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures |
ORPHA:79444 |
Cartilage-Hair Hypoplasia |
|
Hypocalcemia, Anemia, Abnormality of retinal pigmentation, Neutropenia |
ORPHA:175 |
Williams Syndrome |
|
Elevated circulating creatine kinase concentration, Hypercalcemia, Retinal arteriolar tortuosity,... |
ORPHA:904 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Hypoplasia of the semic... |
OMIM:609136 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia, Splenomegaly |
ORPHA:1655 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia |
ORPHA:652 |
Trisomy 10P |
|
EEG with focal spikes, Low voltage EEG, EEG with burst suppression, Abnormal auditory evoked pote... |
ORPHA:171929 |
Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
Mogs-Cdg |
|
Optic atrophy, Absent brainstem auditory responses, Sensorineural hearing impairment |
ORPHA:79330 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Hypophosphatemia, Splenomegaly, Optic nerve compression, Anemia |
ORPHA:667 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Hypocalcemic seizures, Rod-cone dystrophy |
ORPHA:2237 |
Cockayne Syndrome B |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Decreased nerve conduction velocity,... |
OMIM:133540 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypomagnesemia, Hypocalcemia, Hypocalcemic tetany |
ORPHA:73224 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Anemia, Thrombocytopenia, Hyperbilirubinemia, Hypocalcemia |
ORPHA:163979 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures |
ORPHA:79443 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Leukocytosis, Hemolytic anemia, Hyponatremia, Thrombocytopenia, Hyperkalemia |
ORPHA:544482 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:612462 |
Visceral Steatosis, Congenital |
|
Hypocalcemia, Neonatal death |
OMIM:228100 |
Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
Velocardiofacial Syndrome |
|
Retinal vascular tortuosity, Hypocalcemia |
OMIM:192430 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Williams-Beuren Syndrome |
|
Hypercalcemia, Retinal arteriolar tortuosity |
OMIM:194050 |
Gitelman Syndrome |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Iron deficiency anemia, Hypermagnesemia |
ORPHA:358 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Thrombocytop... |
ORPHA:466650 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Sotos Syndrome |
|
Acute lymphoblastic leukemia, Hypercalcemia |
ORPHA:821 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hypocalcemia, Lymphocytosis, Hyperbilirubinemia, Sp... |
OMIM:619991 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypocalcemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia, Pancytopenia, Anemia |
OMIM:613658 |
22Q11.2 Deletion Syndrome |
|
Hypocalcemia, Splenomegaly, Hypoplasia of the thymus, Optic atrophy, Retinal arteriolar tortuosit... |
ORPHA:567 |
Cranioectodermal Dysplasia 1 |
|
Hypocalcemia, Retinal dystrophy |
OMIM:218330 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Aplasia of the thymus, T... |
ORPHA:83471 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
Hennekam Syndrome |
|
Hypocalcemia, Lymphopenia, Splenomegaly |
ORPHA:2136 |
Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials |
ORPHA:401973 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:280651 |
Digeorge Syndrome |
|
Hypocalcemia, Splenomegaly, Hypoplasia of the thymus, Anemia, Thrombocytopenia |
OMIM:188400 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hemolytic anemia, Hepatosplenomegaly, Hypocalcemia, Hypomagnesemia |
OMIM:619503 |
Charge Syndrome |
|
Retinal coloboma, Hypocalcemia, Lymphopenia |
OMIM:214800 |
Johanson-Blizzard Syndrome |
|
Increased VLDL cholesterol concentration, Hypocalcemia |
OMIM:243800 |