Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Generalized lipodystrop... |
OMIM:612526 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture |
OMIM:615883 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Cataract |
OMIM:146200 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Obesity |
OMIM:603233 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia |
ORPHA:172 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypocalcemia |
ORPHA:163693 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Familial Isolated Hypoparathyroidism |
|
Abnormal dental enamel morphology, Hypocalcemia, Cataract |
ORPHA:2238 |
Optic Atrophy 5 |
|
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy |
OMIM:610708 |
Autoimmune Hypoparathyroidism |
|
Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seiz... |
ORPHA:36913 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Pseudohypoparathyroidism, Type Ic |
|
Cataract, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia |
OMIM:612462 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Developmental c... |
OMIM:616834 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia, Obesity |
ORPHA:79445 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Enamel hypoplasia, Hypocalcemia, Developmental cataract |
ORPHA:557003 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... |
OMIM:246700 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
X-Linked Agammaglobulinemia |
|
Weight loss, Conjunctivitis, Hypocalcemia, Cellulitis, Failure to thrive |
ORPHA:47 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia |
ORPHA:1438 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... |
OMIM:618195 |
Refractory Celiac Disease |
|
Hypomagnesemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Hypocalcemia |
OMIM:606407 |
Gracile Bone Dysplasia |
|
Aniridia, Failure to thrive, Hypocalcemia |
OMIM:602361 |
Oculoskeletodental Syndrome |
|
Small for gestational age, Hypercalcemia, Elbow flexion contracture, Developmental cataract, Hypo... |
OMIM:618440 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Cataract, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic tetany, Ename... |
ORPHA:94089 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Uveitis... |
ORPHA:247353 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Dahlberg-Borer-Newcomer Syndrome |
|
Cataract, Hypocalcemia |
ORPHA:1563 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Failure to thrive, Hypocalcemic seizures |
OMIM:264700 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Abnormal adipose tissue morphology, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Failure to thrive, Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Sanjad-Sakati Syndrome |
|
Corneal opacity, Abnormal dental enamel morphology, Hyperphosphatemia, Astigmatism, Hypocalcemia |
ORPHA:2323 |
Intermediate Osteopetrosis |
|
Hypocalcemia |
ORPHA:210110 |
2Q24 Microdeletion Syndrome |
|
Cataract, Small for gestational age, Camptodactyly of finger, Abnormality iris morphology, Failur... |
ORPHA:1617 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Chorioretinal atrophy, Developmental cataract, Microcornea, Iris cyst, Po... |
OMIM:612109 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
Phacoanaphylactic Uveitis |
|
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... |
ORPHA:209959 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... |
ORPHA:26793 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Corneal crystals, Hypo... |
ORPHA:411634 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Blue Diaper Syndrome |
|
Increased body weight, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber |
OMIM:618880 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Cataract, Obesity, Hyperphosphatemia, Conjunctivitis, Hypocalcemia, Hypocalcemic teta... |
ORPHA:79444 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Failure to thrive, Hypercalcemia |
OMIM:239199 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Small for gestational age, Developmental cataract, Hyperphosphatemia,... |
OMIM:127000 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Intermediate Uveitis |
|
Anterior uveitis, Cataract, Macular scar, Band keratopathy, Posterior synechiae of the anterior c... |
ORPHA:279914 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Failure to thrive, Hypocalcemic seizures |
ORPHA:289157 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Primary Intestinal Lymphangiectasia |
|
Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:90362 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Multiple lipomas, Hypermagnesemia, Hypercalcemia, Chondrocalcinosis |
OMIM:145981 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypercalcemia, Weight loss |
OMIM:143880 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Ocular anterior segment dysge... |
OMIM:614195 |
Pseudohypoparathyroidism, Type Ia |
|
Cataract, Obesity, Hyperphosphatemia, Hypocalcemic tetany, Enamel hypoplasia |
OMIM:103580 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Small for gestational age, Hypocalcemia |
OMIM:607143 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Hypocalcemia |
OMIM:259700 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Posterior synechiae of the anterior chamber, Flexion contracture, Elevated circulating creatine k... |
OMIM:613154 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation |
ORPHA:3214 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Cataract, Band keratopathy, Obesity, Hyperphosphatemia, Conjunctivitis, Hypocalcemia,... |
ORPHA:79443 |
Idiopathic Panuveitis |
|
Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri... |
ORPHA:280921 |
Celiac Disease, Susceptibility To, 1 |
|
Weight loss, Hypocalcemia, Steatorrhea, Enamel hypoplasia, Failure to thrive |
OMIM:212750 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Chondrocalcinosis, Hypophosphatemia |
ORPHA:99879 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Inguinal hernia, Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Hypophosphatasia |
|
Failure to thrive in infancy, Hypercalcemia |
ORPHA:436 |
Double Outlet Right Ventricle |
|
Failure to thrive, Hypocalcemia |
ORPHA:3426 |
Rhabdoid Tumor |
|
Hypercalcemia, Weight loss |
ORPHA:69077 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Cataract, Hypokalemia, Hypocalcemia |
OMIM:617913 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Elevated circulating creatine kinase concentration, Elevated circulating creatinine co... |
ORPHA:36234 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Increased circulating farnesol concentration, Elbow flexion contrac... |
OMIM:618156 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Hypocalcemia |
ORPHA:746 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss |
ORPHA:35710 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata |
OMIM:609141 |
Velocardiofacial Syndrome |
|
Umbilical hernia, Inguinal hernia, Posterior embryotoxon, Hypocalcemia |
OMIM:192430 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia, Abnormal blood ion concentration, Hypoalbuminemia, Hypoca... |
ORPHA:37042 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia, Mydriasis |
OMIM:259720 |
Canavan Disease |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Inguinal hernia, Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis |
OMIM:600740 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Potocki-Lupski Syndrome |
|
Failure to thrive, Small for gestational age, Hypocholesterolemia |
OMIM:610883 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol... |
OMIM:266510 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Elevated circ... |
ORPHA:91500 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Weight loss |
ORPHA:94080 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Pearson Syndrome |
|
Cataract, Small for gestational age, Hypomagnesemia, Hypophosphatemia, Corneal stromal edema, Hyp... |
ORPHA:699 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Infantile Myofibromatosis |
|
Hypercalcemia, Chondrocalcinosis |
ORPHA:2591 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Failure to thrive, Hypocholesterolemia, Steatorrhea |
OMIM:607765 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Hypocalcemia |
ORPHA:2306 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Lipoma, Chondrocalcinosis, Hypocalcemic s... |
ORPHA:405 |
Hypophosphatasia, Infantile |
|
Failure to thrive, Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
Gitelman Syndrome |
|
Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Primary hyperaldosteronism, Failure t... |
ORPHA:358 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Abnormal corneal endothelium morphology, Posterior subcapsular cataract, Posterior synechiae of t... |
ORPHA:364055 |
Thymic Neuroendocrine Tumor |
|
Increased circulating cortisol level, Hypercalcemia, Weight loss |
ORPHA:97289 |
Short Syndrome |
|
Inguinal hernia, Posterior embryotoxon, Lipodystrophy, Abnormal dental enamel morphology, Corneal... |
ORPHA:3163 |
Chylomicron Retention Disease |
|
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Cartilage-Hair Hypoplasia |
|
Failure to thrive, Hypocalcemia |
ORPHA:175 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Failure to thrive, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Obesity, Abnormal dental enamel morphology, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
22Q11.2 Deletion Syndrome |
|
Inguinal hernia, Cataract, Failure to thrive, Abnormal dental enamel morphology, Obesity, Hypocal... |
ORPHA:567 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Inguinal hernia, Small for gestational age, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbili... |
OMIM:613658 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Sympathetic Ophthalmia |
|
Cataract, Anterior chamber cells, Posterior synechiae of the anterior chamber, Posterior uveitis,... |
ORPHA:79098 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Developmental cataract, Hypocholesterolemia |
OMIM:618810 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Knee flexion contracture, Hip contracture, Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Weight loss, Hyp... |
ORPHA:199299 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Hypocalcemic seizures |
ORPHA:2237 |
Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestational age, Hyp... |
OMIM:601678 |
Cranioectodermal Dysplasia 1 |
|
Inguinal hernia, Hypocalcemia, Enamel hypoplasia |
OMIM:218330 |
Hennekam Syndrome |
|
Camptodactyly of finger, Hypocalcemia |
ORPHA:2136 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hypocalcemia, Failure to thrive, Elevated circulating creatine kinase concentration |
ORPHA:2785 |
Acute Adrenal Insufficiency |
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Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Weight loss, Inc... |
ORPHA:95409 |
Exercise-Induced Malignant Hyperthermia |
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Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Liver Disease, Severe Congenital |
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Hyponatremia, Inguinal hernia, Elevated circulating alpha-fetoprotein concentration, Increased ci... |
OMIM:619991 |
Pheochromocytoma |
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Hypercalcemia, Developmental cataract |
OMIM:171300 |
Hereditary Pheochromocytoma-Paraganglioma |
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Aniridia, Hypercalcemia, Weight loss |
ORPHA:29072 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Developmental cataract |
ORPHA:93325 |
X-Linked Recessive Ocular Albinism |
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Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation |
ORPHA:54 |
Oguchi Disease 1 |
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Congenital stationary night blindness, Mizuo phenomenon |
OMIM:258100 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... |
ORPHA:96180 |
Monosomy 13Q34 |
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Hypercalcemia, Obesity |
ORPHA:96168 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Hypercalcemia, Weight loss |
ORPHA:276621 |
Paget Disease Of Bone 2, Early-Onset |
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Hypercalcemia |
OMIM:602080 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Flexion contracture, Elbow... |
OMIM:619503 |
Congenital Disorder Of Glycosylation, Type Ia |
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Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypoalbuminemia, Steatorrhea,... |
OMIM:212065 |
Autosomal Recessive Malignant Osteopetrosis |
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Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Megalocornea, Cataract, Abnormality iris morphology, Elevated circulating creatine kinase concent... |
ORPHA:370959 |
Abetalipoproteinemia |
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Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
ORPHA:14 |
Digeorge Syndrome |
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Inguinal hernia, Femoral hernia, Sclerocornea, Obesity, Hypocalcemia, Umbilical hernia, Posterior... |
OMIM:188400 |
Alg12-Cdg |
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Hyponatremia, Abnormal adipose tissue morphology, Hypoalbuminemia, Camptodactyly, Failure to thri... |
ORPHA:79324 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Failure to thrive, Hypercalcemia |
ORPHA:476126 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Hypertriglyceridemia, Hypercalcemia, Astigmatism, Obesity |
ORPHA:369837 |
Multiple Endocrine Neoplasia, Type I |
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Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma |
OMIM:131100 |
Vitamin D-Dependent Rickets, Type 2A |
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Enamel hypoplasia, Failure to thrive, Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
Parathyroid Carcinoma |
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Hypercalcemia, Weight loss, Hypophosphatemia, Lipoma, Chondrocalcinosis |
ORPHA:143 |
Zollinger-Ellison Syndrome |
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Hypercalcemia, Weight loss, Multiple lipomas, Increased circulating cortisol level, Lipoma |
ORPHA:913 |
Retinitis Pigmentosa 96 |
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Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Addison Disease |
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Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Weight loss, Inc... |
ORPHA:85138 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Hypocalcemic tetany, Failure to thrive |
ORPHA:83471 |
Dubowitz Syndrome |
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Inguinal hernia, Hypoplasia of the iris, Hypocholesterolemia, Megalocornea, Iris coloboma |
OMIM:223370 |
Kaufman Oculocerebrofacial Syndrome |
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Microcornea, Failure to thrive, Astigmatism, Hypocholesterolemia |
OMIM:244450 |
Multiple Myeloma |
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Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Weight loss |
ORPHA:29073 |
Ppoma |
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Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma, Weight loss |
ORPHA:97278 |
Somatostatinoma |
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Hypercalcemia, Weight loss, Increased circulating cortisol level, Steatorrhea, Subcutaneous lipoma |
ORPHA:97283 |
Retinitis Pigmentosa 47 |
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Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Vipoma |
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Hypercalcemia, Weight loss, Hypokalemia, Increased circulating cortisol level, Subcutaneous lipoma |
ORPHA:97282 |
Autosomal Recessive Hypophosphatemic Rickets |
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Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Enthesitis |
ORPHA:289176 |
Charge Syndrome |
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Omphalocele, Cataract, Hypocalcemia, Umbilical hernia, Iris coloboma |
OMIM:214800 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Umbilical hernia, Hypocalcemia |
OMIM:620330 |
Fibrous Dysplasia Of Bone |
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Increased circulating cortisol level, Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Lipoma, Hypercalcemia, Chondrocalcinosis, Hypophosphatemia |
ORPHA:99880 |
Tangier Disease |
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Hypertriglyceridemia, Corneal opacity, Hypocholesterolemia |
ORPHA:31150 |
1Q41Q42 Microdeletion Syndrome |
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Abnormality iris morphology, Congenital diaphragmatic hernia |
ORPHA:250999 |
Late-Onset Retinal Degeneration |
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Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin... |
ORPHA:67042 |
Glucagonoma |
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Hypercalcemia, Weight loss, Increased circulating cortisol level, Steatorrhea, Subcutaneous lipoma |
ORPHA:97280 |
Grfoma |
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Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma, Weight loss |
ORPHA:97261 |
Multiple Endocrine Neoplasia Type 2 |
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Reduced subcutaneous adipose tissue, Hypercalcemia, Prominent corneal nerve fibers |
ORPHA:653 |
Johanson-Blizzard Syndrome |
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Small for gestational age, Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemi... |
OMIM:243800 |
Pierson Syndrome |
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Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... |
OMIM:609049 |
Secondary Intestinal Lymphangiectasia |
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Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
Multiple Endocrine Neoplasia Type 4 |
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Increased circulating cortisol level, Hypercalcemia, Subcutaneous lipoma |
ORPHA:276152 |
Juvenile Glaucoma |
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Abnormal anterior chamber morphology, Abnormality iris morphology |
ORPHA:98977 |
Williams Syndrome |
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Inguinal hernia, Flat cornea, Cataract, Abnormal dental enamel morphology, Hypercalcemia, Elevate... |
ORPHA:904 |
Multiple Endocrine Neoplasia Type 1 |
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Hypercalcemia, Weight loss, Multiple lipomas, Increased circulating cortisol level, Primary hyper... |
ORPHA:652 |
Oculodentodigital Dysplasia |
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Cataract, Camptodactyly of finger, Abnormal dental enamel morphology, Abnormality iris morphology... |
ORPHA:2710 |
Sarcoidosis |
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Cataract, Scarring, Hypercalcemia, Uveitis, Weight loss, Keratoconjunctivitis sicca, Abnormal con... |
ORPHA:797 |
Smith-Lemli-Opitz Syndrome |
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Cataract, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholester... |
OMIM:270400 |
Williams-Beuren Syndrome |
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Inguinal hernia, Failure to thrive in infancy, Hypercalcemia, Flexion contracture, Blue irides, O... |
OMIM:194050 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Inguinal hernia, Abnormality of connective tissue, Abnormality iris morphology |
ORPHA:91387 |
Sotos Syndrome |
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Hip contracture, Inguinal hernia, Cataract, Hypercalcemia, Ankle flexion contracture, Bilateral c... |
ORPHA:821 |
Osteopetrosis, Autosomal Recessive 7 |
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Hypocalcemic seizures |
OMIM:612301 |
Congenital Stationary Night Blindness |
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Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
Oguchi Disease |
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Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon |
ORPHA:75382 |
Retinitis Pigmentosa |
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Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:791 |