Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia, Coxa valga |
OMIM:191420 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Clinodactyly of the 5th finger, Hypoproteinemia, Bilateral single transverse palmar creases |
ORPHA:1116 |
Vitamin D-Dependent Rickets, Type 3 |
|
Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cupping, Genu ... |
OMIM:619073 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Hyperphosphatemia, Hypocalcemia, Brachydactyly |
OMIM:603233 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
Hypophosphatasia |
|
Bowing of the long bones, Abnormal metaphysis morphology, Hypercalcemia |
ORPHA:436 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing, Decreased circulating beta-2-microglobulin level, Hypoalbu... |
OMIM:241600 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Hypercalcemia, Short 5th finger, Hypocalcemia, Hypoplasia of the capital f... |
ORPHA:557003 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Metaphyseal dysplasia, Hypercalcemia |
OMIM:614732 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Hyperphosphatemia, Short 5th finger, Hy... |
ORPHA:79445 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia, Metacarpal periosteal thickening |
OMIM:617994 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemi... |
ORPHA:94090 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Tremor, Clinodactyly of the 5th finger, Hypoproteinemia, Single transverse palmar crease |
OMIM:608093 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Non-Functioning Paraganglioma |
|
Tremor, Hypercalcemia |
ORPHA:94080 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Small hand, Short foot, Cortical thickening o... |
ORPHA:93324 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Micromelia, Bowing of the legs, Metaphyseal cupping... |
OMIM:241500 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Bowing of the long bones, Hypercalcemia, Metaphyseal chondrodysplasia, Clubbing of fingers, Hypop... |
OMIM:156400 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Abnormality of the hand, Tapered finger, Tremor, Unilateral radial aplasia, Partia... |
ORPHA:476126 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Hypercalcemia, Femoral bowing, Osteosclerosis of the ulna |
OMIM:602080 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Infantile Myofibromatosis |
|
Abnormal metaphysis morphology, Hypercalcemia |
ORPHA:2591 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Tremor, Hype... |
ORPHA:247585 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Clubbing of fingers, Clubbing, Hypoalbuminemia |
OMIM:226300 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Metaphyseal irregularity, Hypophosphatemia |
OMIM:239200 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia, Elbow flexion contracture, Short femoral neck |
OMIM:618440 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Autoimmune Hypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Laryngeal dystonia, Hypocalcemic seizures |
ORPHA:36913 |
2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Monosomy 13Q34 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Hypercalcemia |
ORPHA:96168 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Hypercalcemia |
ORPHA:276621 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Hypocalcemia, Tapered finger |
ORPHA:1438 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Postaxial hand polydactyly, Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short metatarsal, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Brachyd... |
OMIM:612462 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia, Bowing of the legs |
ORPHA:89937 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bowing of the legs, Enlargement of the wrists, Femoral bowing, Tibial bowing, Fibular bowing, Hyp... |
OMIM:600081 |
Kenny-Caffey Syndrome, Type 1 |
|
Short palm, Small hand, Short foot, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Albers-Schönberg Osteopetrosis |
|
Genu valgum, Hypocalcemia, Abnormal metacarpal morphology, Abnormal metaphysis morphology, Short ... |
ORPHA:53 |
Leptospirosis |
|
Hyperproteinemia |
ORPHA:509 |
Fibrous Dysplasia Of Bone |
|
Abnormal morphology of the radius, Bowing of the long bones, Abnormal morphology of ulna, Hyperca... |
ORPHA:249 |
Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Hyperkalemia, Highly elevated creatine kinase, Hyperphos... |
ORPHA:99845 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hyperuricemia, Hyperkalemia, Hypercalcemia |
ORPHA:199299 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Clubbing, Hypokalemia, Clubbing of fingers, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia |
ORPHA:95409 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bowing of the legs, Subperiosteal bone resorption, Enlargement of the wrists, Femoral bowing, Tib... |
OMIM:264700 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Hypercalcemia |
ORPHA:29072 |
Dahlberg-Borer-Newcomer Syndrome |
|
Brachydactyly, Hypocalcemia, Short distal phalanx of finger |
ORPHA:1563 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Intermediate Osteopetrosis |
|
Hypocalcemia, Erlenmeyer flask deformity of the femurs |
ORPHA:210110 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Short palm, Hypocalcemic seizures |
OMIM:241410 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Cortical subperiosteal resorption of humeral metaphyses, Diaphyseal sclerosis, Hyperp... |
ORPHA:94089 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hypoproteinemia, Elevated circulating creatine kinase concentration |
OMIM:615895 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Genu varum, Genu valgum, Hypocalcemia, Hypophosphatemia, Abnormal metaphysis morphology, Coarse m... |
ORPHA:93160 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalcemia, Hypertriglyceridemia, Upper limb undergrowth |
ORPHA:369837 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Short metacarpal, Short fifth metatarsal, Short metatarsal, Hypocalcemic seizures, Hy... |
ORPHA:79444 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Oncogenic Osteomalacia |
|
Abnormality of the tarsal bones, Abnormal femur morphology, Abnormal fibula morphology, Tibial bo... |
ORPHA:352540 |
Addison Disease |
|
Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, Hyperuricemia |
ORPHA:85138 |
Timothy Syndrome |
|
Hypocalcemia, Cutaneous syndactyly |
OMIM:601005 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Enlargement of the wrists, Ti... |
ORPHA:289157 |
Gracile Bone Dysplasia |
|
Flared metaphysis, Hypocalcemia, Brachydactyly |
OMIM:602361 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia |
OMIM:606407 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Tremor, Increased circulating ferritin concentration, Hypopro... |
ORPHA:167 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Talipes equinovarus... |
OMIM:607143 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Oculogyric crisis, Elevated circulating creatine kinase concentration, Tremor, Hype... |
ORPHA:94093 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Short metacarpal, Short fifth metatarsal, Broad 1st metacarpal, Short metatarsal, Cho... |
ORPHA:79443 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Osteopetrosis, Autosomal Recessive 1 |
|
Flared metaphysis, Femur fracture, Hypocalcemia, Coxa vara |
OMIM:259700 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short toe, Short metatarsal, Hyperphosphatemia, Short finger, Hypocalcemic teta... |
OMIM:103580 |
Sanjad-Sakati Syndrome |
|
Short foot, Hyperphosphatemia, Small hand, Hypocalcemia |
ORPHA:2323 |
Cholera |
|
Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Palmoplantar cutis laxa |
ORPHA:173 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Autosomal Dominant Hypocalcemia |
|
Hypocalcemia, Hyperphosphatemia, Writer's cramp, Hypomagnesemia |
ORPHA:428 |
X-Linked Agammaglobulinemia |
|
Hypocalcemia |
ORPHA:47 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Metaphyseal widening, Diaphyseal sclerosis, Erlenmeyer flask deformity of the femurs, Hypocalcemia |
OMIM:618476 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity ... |
OMIM:127000 |
Grfoma |
|
Hypercalcemia, Palmoplantar hyperhidrosis |
ORPHA:97261 |
Vipoma |
|
Hypokalemia, Hypercalcemia |
ORPHA:97282 |
Ppoma |
|
Hypercalcemia |
ORPHA:97278 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... |
ORPHA:36234 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Somatostatinoma |
|
Hypercalcemia |
ORPHA:97283 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia |
ORPHA:913 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Bowing of the long bones, Rhizomelia, Abnormal distal phalanx morphology o... |
ORPHA:175 |
Tay-Sachs Disease |
|
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Distal upper limb musc... |
ORPHA:845 |
Glucagonoma |
|
Hypercalcemia |
ORPHA:97280 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia |
ORPHA:276152 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Overlapping toe |
OMIM:618598 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia, Equinus calcaneus |
ORPHA:746 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Rocker bottom foot, 2-3 toe syndactyly, Bulbou... |
ORPHA:163979 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Overlapping toe, Elbow flexion contracture, Talipes equinovarus, Ha... |
OMIM:617301 |
Williams Syndrome |
|
Hallux valgus, Hypercalcemia, Elevated circulating creatine kinase concentration, Tremor, Genu va... |
ORPHA:904 |
Craniofacioskeletal Syndrome |
|
Small hand, Short foot, Hypocalcemia, Short palm, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:300712 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... |
OMIM:619991 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Clinodactyly of the 5th finger, Truncal titubation |
OMIM:618056 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb... |
ORPHA:37042 |
Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista... |
OMIM:218330 |
Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration |
OMIM:253800 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia |
ORPHA:652 |
Osteopetrosis, Autosomal Recessive 5 |
|
Flared metaphysis, Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Large hands, Hypoasparaginemia |
OMIM:615574 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Exaggerated startle response, Single transverse palmar c... |
ORPHA:521426 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
Celiac Disease, Susceptibility To, 1 |
|
Hypocalcemia |
OMIM:212750 |
Sotos Syndrome |
|
Hypercalcemia, Tremor, Bilateral camptodactyly, 2-3 toe syndactyly, Increased arm span, Large han... |
ORPHA:821 |
Velocardiofacial Syndrome |
|
Hypocalcemia, Abnormality of the hand |
OMIM:192430 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Tremor, Hypocalcemia, Hypophosphatemia, Abnormal metaphysis morphology |
ORPHA:667 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
Williams-Beuren Syndrome |
|
Hallux valgus, Hypercalcemia, Radioulnar synostosis, Clinodactyly of the 5th finger |
OMIM:194050 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Exaggerated startle response |
ORPHA:320406 |
Ethylene Glycol Poisoning |
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Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
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Exaggerated startle response |
OMIM:620114 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response, Rocker bottom foot, Single transverse palmar crease, Postaxial poly... |
OMIM:617527 |
Exercise-Induced Malignant Hyperthermia |
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Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Igg4-Related Thyroid Disease |
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Hypocalcemia |
ORPHA:64744 |
Sarcoidosis |
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Hypercalcemia |
ORPHA:797 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Tay-Sachs Disease |
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Exaggerated startle response |
OMIM:272800 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Tremor, Exaggerated startle response |
OMIM:620327 |
Gm1 Gangliosidosis Type 1 |
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Exaggerated startle response, Dystonia, Flattened femoral head, Broad long bone diaphyses, Broad ... |
ORPHA:79255 |
Gm2-Gangliosidosis, Ab Variant |
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Exaggerated startle response, Dystonia |
OMIM:272750 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Stenosis of the medullary cavity of the long bones, Cortical thickening of long bone diaphyses, H... |
ORPHA:93325 |
Isotretinoin-Like Syndrome |
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Hypocalcemia |
ORPHA:2306 |
Leukodystrophy, Hypomyelinating, 13 |
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Exaggerated startle response |
OMIM:616881 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Exaggerated startle response |
OMIM:608800 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response |
ORPHA:309155 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Juvenile Polyposis Syndrome |
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Clubbing of fingers, Hypoproteinemia |
ORPHA:2929 |
Hennekam Syndrome |
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Finger syndactyly, Hypocalcemia, Camptodactyly of finger |
ORPHA:2136 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Exaggerated startle response, Dystonia |
ORPHA:438216 |
Pearson Syndrome |
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Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia |
ORPHA:699 |
Osteopetrosis With Renal Tubular Acidosis |
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Hypocalcemia, Elevated circulating creatine kinase concentration |
ORPHA:2785 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
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Exaggerated startle response |
OMIM:617864 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
Autosomal Recessive Hypophosphatemic Rickets |
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Renal hypophosphatemia, Enlargement of the wrists, Coxa vara, Tibial bowing, Hypophosphatemic ric... |
ORPHA:289176 |
Infection-Related Hemolytic Uremic Syndrome |
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Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
Gitelman Syndrome |
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Hypokalemia, Hypermagnesemia, Hypocalcemia, Hypomagnesemia |
ORPHA:358 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Dystonia, Sandal gap, Long fingers, Cutaneous syndactyly, Hypocalcemia, Toe clinodactyly |
OMIM:620330 |
22Q11.2 Deletion Syndrome |
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Arachnodactyly, Hand polydactyly, Talipes equinovarus, Hypocalcemia, Foot polydactyly |
ORPHA:567 |
Sandhoff Disease |
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Exaggerated startle response |
OMIM:268800 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response |
OMIM:617281 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Short humerus, Exaggerated startle response, Short femur, Tapered finger |
OMIM:618367 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hyperextensibility of the finger joints, Single transverse palmar crease, Tapered finger, Elbow f... |
OMIM:619503 |
Charge Syndrome |
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Hypoplasia of the ulna, Abnormal palmar dermatoglyphics, Absent radius, Short thumb, Hand monodac... |
OMIM:214800 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Hypocalcemic tetany |
ORPHA:83471 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Broad toe, Exaggerated startle response, Single transverse palmar crease, Tapered finger, Short t... |
OMIM:619522 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Exaggerated startle response, Decreased serum iron, Dystonia |
ORPHA:438213 |
Digeorge Syndrome |
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Hypocalcemia |
OMIM:188400 |
Johanson-Blizzard Syndrome |
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Single transverse palmar crease, Increased VLDL cholesterol concentration, Conjugated hyperbiliru... |
OMIM:243800 |
C1Q Deficiency 3 |
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OMIM:620322 |