| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Alpha-Heavy Chain Disease |
|
Alopecia, Splenomegaly, Hypocalcemia, Hepatomegaly, Anemia |
ORPHA:100025 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hirsutism, Hypercholesterolemia, Hypertriglycerid... |
OMIM:612526 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... |
OMIM:601198 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Irritability, Hypocalcemic seizures |
OMIM:146200 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| 2P21 Microdeletion Syndrome |
|
Long eyelashes, Cystinuria, Hypocalcemia, Nephrolithiasis |
ORPHA:163693 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria |
OMIM:620152 |
| Potocki-Lupski Syndrome |
|
Mandibular prognathia, Dental malocclusion, Dental crowding, Oral-pharyngeal dysphagia, Hypochole... |
OMIM:610883 |
| Renal Tubular Acidosis, Distal, 1 |
|
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I... |
OMIM:179800 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:610539 |
| Oculoskeletodental Syndrome |
|
Abnormality of the dentition, Nephrocalcinosis, Abnormality of the frontal hairline, Retrognathia... |
ORPHA:557003 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Hypocalcemia |
ORPHA:172 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Hypomagnesemia, Hypocalcemia, Nail dystrophy, Hypokalemia, Nail dysplasia, Hyperpigment... |
OMIM:175500 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
| Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Aggressive behavior, Increased LDL cholesterol concentration, Fair hair |
OMIM:618808 |
| Pseudohypoparathyroidism Type 1B |
|
Depression, Hyperphosphatemia, Delayed eruption of teeth, Low urinary cyclic AMP response to PTH ... |
ORPHA:94089 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
| Familial Isolated Hypoparathyroidism |
|
Nephropathy, Delayed eruption of teeth, Hypocalcemia, Abnormal dental enamel morphology |
ORPHA:2238 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:94090 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia |
OMIM:211000 |
| Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Depression, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Irrita... |
ORPHA:36913 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... |
ORPHA:83451 |
| Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Long eyelashes, Tented upper lip vermilion, Hypocalcemia, Nephrolithiasis, ... |
OMIM:606407 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Hypocalcemia, Hypophosphatemia, Iron deficiency anemia, Tooth abscess |
ORPHA:89937 |
| Phenylketonuria |
|
Depression, Elevated urinary gamma-glutamylphenylalanine level, Increased level of hippuric acid ... |
OMIM:261600 |
| Squalene Synthase Deficiency |
|
Retrognathia, Elevated urine mesaconic acid level, Hypocholesterolemia, Micrognathia, Abnormality... |
OMIM:618156 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero... |
OMIM:610600 |
| Oligodontia |
|
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... |
ORPHA:99798 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypocalcemic seizures |
ORPHA:2239 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Refractory Celiac Disease |
|
Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... |
ORPHA:398063 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Pseudohypoparathyroidism, Type Ib |
|
Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Albers-Schönberg Osteopetrosis |
|
Abnormality of the dentition, Carious teeth, Mandibular osteomyelitis, Hypocalcemia, Abnormal leu... |
ORPHA:53 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... |
OMIM:602088 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Carious teeth, Hypocalcemic tetany, Hypocalcemia, Calvarial osteosclerosis, Hypocalcemic seizures |
ORPHA:93324 |
| Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Hypophosph... |
OMIM:616963 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Ring Chromosome 10 Syndrome |
|
Long philtrum, Micrognathia, Hypocalcemia, Renal hypoplasia/aplasia, Thin vermilion border |
ORPHA:1438 |
| Genetic Recurrent Myoglobinuria |
|
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... |
ORPHA:99845 |
| Glycine Encephalopathy 1 |
|
Hyperglycinuria, Hyperglycinemia, Irritability, Aggressive behavior, Hyperactivity, Restlessness,... |
OMIM:605899 |
| Oculoskeletodental Syndrome |
|
Renal agenesis, Splenomegaly, Hypocalcemia, Oligodontia, Low posterior hairline, Low anterior hai... |
OMIM:618440 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... |
OMIM:214450 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... |
OMIM:246700 |
| Pseudohypoparathyroidism, Type Ic |
|
Hyperphosphatemia, Delayed eruption of teeth, Low urinary cyclic AMP response to PTH administrati... |
OMIM:612462 |
| Pseudohypoaldosteronism Type 2 |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Hyperkalemia |
ORPHA:757 |
| Autosomal Dominant Hypocalcemia |
|
Nephrocalcinosis, Depression, Hyperphosphatemia, Alopecia, Irregular hyperpigmentation, Hypomagne... |
ORPHA:428 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... |
OMIM:615285 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypertrichosis, Micrognathia, Hypocalcemia, Splenomegaly, Malar flattening, Hydronephrosis, Hepat... |
OMIM:235255 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Renal hypoplasia/aplasia, Hepatomegaly, Thrombocytopenia, Anemia, Hypercalcemia |
ORPHA:2123 |
| X-Linked Agammaglobulinemia |
|
Alopecia, Hypopigmented skin patches, Hypocalcemia, Sinusitis, Thrombocytopenia, Neutropenia, Ane... |
ORPHA:47 |
| Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Hypomagnesemia, Hypocalcemia, Calvarial osteosclerosis, Anemia |
OMIM:244460 |
| Late-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating cortico... |
ORPHA:556037 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulopathy, Anemia, Hypercalcemia |
ORPHA:2668 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Abnormality of the dentition, Alopecia, Premature loss of primary teeth, Hypocalcemia, Nephrolith... |
ORPHA:93160 |
| Hyperprolinemia, Type I |
|
Hyperglycinuria, Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Aggressive behavior, Hyperactivi... |
OMIM:239500 |
| Immunodeficiency, Common Variable, 6 |
|
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... |
OMIM:613496 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Renal insufficiency, Hyponatremia, Geog... |
ORPHA:247353 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Myoglobinuria, Hyperkalemia, Hemolytic anemia, Elevated creatine kinase afte... |
ORPHA:57 |
| Early-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting, Hyponatremia, Elevated serum 11-deoxycortisol, Abnormal circulating cortico... |
ORPHA:556030 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Delayed eruption of teeth, Hypocalcemia, Irritability, Hypophosphatemi... |
OMIM:264700 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Nephrocalcinosis, Renal hypoplasia, Renal artery stenosis, Micrognathia, Splenomeg... |
OMIM:617913 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Proteinuria, Polyphagia, Episodic hemolytic anemia, Increased ... |
ORPHA:251004 |
| Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hyperphosphatemia, Hypomature enamel, Hematuria, Macroscopic hematuria, A... |
OMIM:248250 |
| Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic... |
ORPHA:3352 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Bifid uvula, Hyperphosphatemia, Long philtrum, Micrognathia, Hypocalcemia, Thin upper lip vermili... |
OMIM:241410 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypertrichosis, Hepatosplenomegaly, Micrognathia, Splenomegaly, Hypocalcemia, Alveolar ridge over... |
ORPHA:1655 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620126 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Nephropathy, Renal insufficiency, Hypocalcemia, Generalized hirsutism, Anonychia |
ORPHA:1563 |
| Granulomatous Slack Skin |
|
Acute kidney injury, Hypercalcemia, Nephrocalcinosis |
ORPHA:33111 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia, Hemolytic anemia |
OMIM:609153 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620125 |
| Rhabdoid Tumor |
|
Renal neoplasm, Irritability, Hematuria, Thrombocytopenia, Anemia, Hypercalcemia |
ORPHA:69077 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Carious teeth, Pancytopenia, Splenomegaly, Hypocalcemia, Hepatomegaly, Thrombocytopenia, Calvaria... |
OMIM:259700 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Hypochromic anemia, Delayed eruption of teeth, Leukocytosis, Splenomeg... |
ORPHA:289157 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:618618 |
| Colchicine Poisoning |
|
Alopecia, Oliguria, Hypomagnesemia, Leukocytosis, Renal insufficiency, Hypocalcemia, Hypokalemia,... |
ORPHA:31824 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Hypocholesterolemia, Micrognathia, Narrow mouth, Hepatomegaly, Brittle hair, Micr... |
OMIM:618810 |
| Zimmermann-Laband Syndrome |
|
Bifid uvula, Facial hypertrichosis, Hypoplastic fingernail, Long eyelashes, Micrognathia, Wide mo... |
ORPHA:3473 |
| Regional Odontodysplasia |
|
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... |
ORPHA:83450 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Depression, Recurrent aphthous stomatitis, Hypocalcemia, Macrocytic anemia, Iron defici... |
OMIM:212750 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormality of the dentition, Subungual hyperkeratosis, Carious teeth, Yellow-brown discoloration... |
ORPHA:69087 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Sparse hair, Abnormality of the dentition, Abnormality of retinal pigmentation, Oligodontia, Unco... |
ORPHA:1264 |
| Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Hypouricemi... |
ORPHA:411634 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Low posterior hairline, Neutropenia, Hepatomegaly, Nephrotic syndrome, Renal tubular atrophy, Foc... |
OMIM:617303 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Hypophosphatasia |
|
Anemia, Abnormality of the dentition, Hypercalcemia, Irritability |
ORPHA:436 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... |
ORPHA:97362 |
| Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Hypercal... |
OMIM:143880 |
| Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Oral-pharyngeal dys... |
ORPHA:199306 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Anemia, Elevated circulating creatinine concentration, Hyperkalemia, Stage 3 chronic kidney disease |
OMIM:620366 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Long philtrum, Hypocholesterolemia, Wide mouth, Splenomegaly, Hepatomegaly, Poly... |
OMIM:608776 |
| Sanjad-Sakati Syndrome |
|
Abnormality of the dentition, Hyperphosphatemia, Long philtrum, Abnormal dental enamel morphology... |
ORPHA:2323 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Narrow mouth, Abnormal oral cavity morphology, Hypopigmentation of... |
ORPHA:1355 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Hyperactivity, ... |
OMIM:618314 |
| Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia... |
ORPHA:94093 |
| Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Hypocholesterolemia, Malar flattening, Hepatome... |
OMIM:266510 |
| Timothy Syndrome |
|
Cardiomegaly, Hypocalcemia, Thin upper lip vermilion, Microdontia |
OMIM:601005 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased LDL chole... |
OMIM:615558 |
| Alazami-Yuan Syndrome |
|
Highly arched eyebrow, Dental crowding, Long philtrum, Long eyelashes, Thick eyebrow, Narrow mout... |
OMIM:617126 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Tooth malposition, Pancytopenia, Micrognathia, Narrow mouth, Proximal renal tubular acidosis, Hep... |
ORPHA:2785 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Pigmentary retinopathy, Depression, Hypocholesterolemia, Abnormal erythrocyte morphology, Acantho... |
ORPHA:96180 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Long philtrum, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Sple... |
OMIM:259720 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, Hypokalemia... |
OMIM:611590 |
| Hyperparathyroidism 4 |
|
Hypercalcemia, Nephrolithiasis |
OMIM:617343 |
| Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
| Hartnup Disorder |
|
Neutral hyperaminoaciduria, Emotional lability, Glossitis, Attention deficit hyperactivity disord... |
OMIM:234500 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:177735 |
| Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ... |
OMIM:607624 |
| Hidrotic Ectodermal Dysplasia |
|
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... |
ORPHA:189 |
| Cholera |
|
Acute kidney injury, Abnormal blood ion concentration, Hypocalcemia, Irritability, Hypokalemia, H... |
ORPHA:173 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Micrognathia, Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyc... |
OMIM:618183 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... |
OMIM:616834 |
| Hypophosphatasia, Infantile |
|
Abnormality of the dentition, Nephrocalcinosis, Phosphoethanolaminuria, Elevated plasma pyrophosp... |
OMIM:241500 |
| Birk-Landau-Perez Syndrome |
|
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Long eyelashes, Renal i... |
OMIM:617595 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Vitiligo, Renal insufficiency, Hyperuricemia, Hyponatremia, Decreased circulat... |
ORPHA:95409 |
| Fraxe Intellectual Disability |
|
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Melanocytic nevus, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... |
ORPHA:90362 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... |
OMIM:613673 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperaldosteronism, Renal salt wasting, Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Acrofacial Dysostosis, Palagonia Type |
|
High, narrow palate, Sparse hair, Unilateral cleft lip, Sparse lateral eyebrow, Thin eyebrow, Mic... |
ORPHA:1787 |
| Pseudohypoparathyroidism Type 1C |
|
Depression, Hyperphosphatemia, Delayed eruption of teeth, Low urinary cyclic AMP response to PTH ... |
ORPHA:79444 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Abnormality of skin pigmentation |
OMIM:240200 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypoalbuminemia, Alopecia, Hypomagnesemia, Abnormal blood ion concentration, Autoimmune hemolytic... |
ORPHA:37042 |
| Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Irritability, Hepatomegaly, Thrombocytopeni... |
ORPHA:848 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... |
ORPHA:90044 |
| Hennekam Syndrome |
|
Abnormal oral mucosa morphology, Delayed eruption of teeth, Retrognathia, Tooth agenesis, Horsesh... |
ORPHA:2136 |
| Rothmund-Thomson Syndrome |
|
Carious teeth, Aplastic anemia, Small nail, Alopecia totalis, Sparse eyelashes, Calcinosis, Neutr... |
ORPHA:2909 |
| Gracile Bone Dysplasia |
|
Ankyloglossia, Hypocalcemia, Micropenis, Asplenia, Hypoplastic spleen |
OMIM:602361 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis |
OMIM:239199 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Hyp... |
OMIM:145001 |
| Small Cell Carcinoma Of The Bladder |
|
Hematuria, Hypercalcemia, Dysuria, Recurrent urinary tract infections |
ORPHA:284400 |
| Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... |
ORPHA:42665 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Bifid uvula, Highly arched eyebrow, Thick lower lip vermilion, Long eyelashes, Thick eyebrow, Ope... |
OMIM:617412 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Nephrocalcinosis, Hypercalcemia, Blue urine |
ORPHA:94086 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excretion, Increased renal... |
OMIM:211900 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra... |
OMIM:241150 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Increased total bilirubin, Hepatomegaly, Hyperkalemia, Conjugated hyperbilirubin... |
OMIM:618528 |
| Pearson Syndrome |
|
Pancytopenia, Hypophosphatemia, Neutropenia, Hepatomegaly, Dysphagia, Hypoplastic spleen, Renal i... |
ORPHA:699 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... |
ORPHA:79477 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Highly arched eyebrow, Dental crowding, Retrognathia, Thick lower lip vermilion, Bruxism, Persist... |
OMIM:618342 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Decreased circulating cortisol level |
OMIM:614736 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Narrow palate, Renal dysplasia, Increased total bilirubin, Elevated circulating creatinine concen... |
OMIM:608836 |
| Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Recurrent urinary tract infections, Elevated circulating creatinine concentratio... |
ORPHA:36234 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Hyper... |
OMIM:619902 |
| Familial Isolated Hyperparathyroidism |
|
Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hyper... |
ORPHA:99879 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Abnormality of the dentition, Long philtrum, Recurrent urinary tract infections, Thick eyebrow, V... |
ORPHA:502 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Craniofacial osteosclerosis, Inappropriate laughter, Long eyelashes, Tented upper lip vermilion, ... |
OMIM:618476 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Hypercalcemia, Mi... |
ORPHA:476126 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Hematuria, Addictive alcohol use, D... |
ORPHA:31826 |
| Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Retrognathia, Open mouth, Hypocalcemia, Submucous cleft hard palate... |
OMIM:192430 |
| Cranioectodermal Dysplasia 1 |
|
Chronic kidney disease, High, narrow palate, Short nail, Renal magnesium wasting, Stage 1 chronic... |
OMIM:218330 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... |
ORPHA:26793 |
| Uremic Pruritus |
|
Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Depression, Stage 5 chronic kidn... |
ORPHA:94059 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
| Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Abnormal oral mucosa... |
ORPHA:85445 |
| Nephronophthisis 16 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... |
OMIM:615382 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Absent cupid's bow, Crossed fused renal ectopia, Cleft soft pal... |
ORPHA:2919 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Increased circulating renin level, Hyperkalemia, Glucocortocoid-insensitive primary... |
ORPHA:171876 |
| Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
| Smith-Magenis Syndrome |
|
Abnormality of the dentition, Mandibular prognathia, Abnormality of the urinary system, Head-bang... |
OMIM:182290 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism, Hypocalc... |
ORPHA:73224 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Splenomegaly, Hepatomegaly, Steatorrhea, Conjugated hyperbilirubinemia |
OMIM:607765 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Hypercalcemia, Eleva... |
ORPHA:284426 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair, Neutropenia |
ORPHA:90023 |
| Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia, Thin upper lip vermilion, Micropenis, Short philtrum, Hypospadias |
OMIM:607143 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hypocalcemia, Hydronephros... |
ORPHA:2237 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypocalciuria, Depression, Multiple small medullary renal cysts, Renal insuffici... |
OMIM:600740 |
| Pseudohypoparathyroidism Type 1A |
|
Depression, Hyperphosphatemia, Delayed eruption of teeth, Low urinary cyclic AMP response to PTH ... |
ORPHA:79443 |
| Addison Disease |
|
Normocytic anemia, Vitiligo, Thiamine-responsive megaloblastic anemia, Hyperuricemia, Hyponatremi... |
ORPHA:85138 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Polydipsia, Hyperphosphaturia, Splenomegaly, Hepatomegaly, Hypercalciuria, Hypopho... |
OMIM:239200 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Decreased urinary potassium, Proximal renal tubular acidosis, Renal salt wasting, H... |
ORPHA:427 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of the skin, Inappropriate laughter, Wide mouth, Polyphag... |
ORPHA:411515 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Aplasia/Hypoplasia of the nails, Hyperbilirubinemia, Hypocalcemia, Hydronephrosis, Thin upper lip... |
ORPHA:163979 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia |
ORPHA:3196 |
| Classic Phenylketonuria |
|
Self-injurious behavior, Hypopigmentation of the skin, Depression, Attention deficit hyperactivit... |
ORPHA:79254 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Sparse hair, Abnormality of the dentition, Sparse eyebrow, Long philtrum, Leukonychia, Micrognath... |
ORPHA:77258 |
| East Syndrome |
|
Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, ... |
ORPHA:199343 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Micropenis, Hypercalcemia, Hypercalciuria, Hypospadias |
OMIM:614732 |
| Dubowitz Syndrome |
|
Carious teeth, Aplastic anemia, Velopharyngeal insufficiency, Delayed eruption of teeth, Sparse l... |
OMIM:223370 |
| Meckel Syndrome, Type 8 |
|
Cleft upper lip, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney, Cleft palate |
OMIM:613885 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
| Pseudohypoparathyroidism, Type Ia |
|
Hyperphosphatemia, Delayed eruption of teeth, Low urinary cyclic AMP response to PTH administrati... |
OMIM:103580 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Hypocalcemia |
ORPHA:352540 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Dental crowding, Sparse lateral eyebrow, Long philtrum, Fine hair, Thin upper lip ve... |
OMIM:190351 |
| H Syndrome |
|
Alopecia, Cleft upper lip, Hypertrichosis, Microcytic anemia, Abnormal eyebrow morphology, Hepato... |
ORPHA:168569 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hirsutism, Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, Hyperpigm... |
ORPHA:90791 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium, Anemia, Reduced c... |
OMIM:611489 |
| Nephronophthisis 3 |
|
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, R... |
OMIM:604387 |
| Amelogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... |
ORPHA:88661 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Polydipsia, Hyperphosphatemia, Nephrolithiasis, Polyuria, Calvarial osteosclerosis, Hypercalcemia |
OMIM:617994 |
| Infantile Myofibromatosis |
|
Irregular hyperpigmentation, Abnormal hair morphology, Abnormality of the kidney, Gingival fibrom... |
ORPHA:2591 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Abnormal hair morphology, Thick vermilion border, Renal insufficiency, Malar flattening, Proteinu... |
ORPHA:86818 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Hypokalemia, Proximal renal tubular ... |
OMIM:604278 |
| Acrootoocular Syndrome |
|
High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Micrognathia, Grayish enamel... |
ORPHA:2980 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Inappropriate behavior, Nephrolithiasis, Aggressive behavior, Attention ... |
OMIM:619827 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Supernumerary tooth |
ORPHA:3145 |
| Griscelli Syndrome Type 1 |
|
Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Hyperlipidemia |
ORPHA:79476 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... |
OMIM:300971 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... |
OMIM:313500 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Self-injurious behavior, Bifid uvula, Mandibular prognathia, Fixated interests, Long philtrum, Fe... |
OMIM:620330 |
| Liddle Syndrome |
|
Nephropathy, Renal insufficiency, Hypokalemia |
ORPHA:526 |
| Mirage Syndrome |
|
Hypospadias, Microphallus, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Hyponatre... |
OMIM:617053 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Micrognathia, Enlarged kidney, Nephroblastoma |
OMIM:618272 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Carious teeth, Periodontitis, Xanthelasma, Stage 5 chronic kidney disease, Hype... |
ORPHA:79259 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| 2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Highly arched eyebrow, Macrodontia, Open mouth, Malar flattening, Tented... |
ORPHA:228402 |
| Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Fine hair, Tooth agenesis, Sparse lateral eyebrow, Abnormal dental mor... |
ORPHA:3353 |
| Familial Glucocorticoid Deficiency |
|
Hypernatriuria, Recurrent urinary tract infections, Generalized hyperpigmentation, Hyponatremia, ... |
ORPHA:361 |
| Hyperlysinemia, Type I |
|
Hypoornithinemia, Hyperlysinuria, Cystinuria, Hyperlysinemia, Hyperactivity, Anemia, Ornithinuria... |
OMIM:238700 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Xanthelasma, Hyperlipid... |
OMIM:232220 |
| Apparent Mineralocorticoid Excess |
|
Nephrocalcinosis, Polydipsia, Renal insufficiency, Abnormality of circulating cortisol level, Dec... |
ORPHA:320 |
| Double Outlet Right Ventricle |
|
Cleft palate, Narrow mouth, Hypocalcemia, Submucous cleft hard palate |
ORPHA:3426 |
| Cleidocranial Dysplasia |
|
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Hypo... |
ORPHA:1452 |
| Tooth Agenesis, Selective, 3 |
|
Oligodontia of primary teeth, Abnormal fingernail morphology, Abnormal hair morphology, Agenesis ... |
OMIM:604625 |
| Craniofacioskeletal Syndrome |
|
Micrognathia, Hypoplastic frontal sinuses, Hypocalcemia, Hydronephrosis, Thin upper lip vermilion... |
OMIM:300712 |
| Schwartz-Jampel Syndrome |
|
Pursed lips, Abnormality of the ureter, Micrognathia, Narrow mouth, Generalized hirsutism, Everte... |
ORPHA:800 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hepatosplenomegaly, Cleft soft palate, Micrognathia, Narrow mouth, Curly hair, High palate, Dysph... |
OMIM:619503 |
| Gitelman Syndrome |
|
Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Polydipsia, Hypomagnesemia, Renal ... |
ORPHA:358 |
| Chylomicron Retention Disease |
|
Steatorrhea, Hypocholesterolemia, Acanthocytosis |
ORPHA:71 |
| Trichothiodystrophy 2, Photosensitive |
|
Tiger tail banding, Agenesis of maxillary lateral incisor, Coarse hair |
OMIM:616390 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Proximal tubulopathy, Hypocholesterolemia, Proteinuria, Renal cyst, Hepatomegaly... |
OMIM:212065 |
| Rubinstein-Taybi Syndrome 2 |
|
Narrow palate, Highly arched eyebrow, Carious teeth, Dental malocclusion, Retrognathia, Long eyel... |
OMIM:613684 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Elevated urinary norepinephrine level, Hypercalcemia, Proteinuria, Axillary freckling, Cafe-au-la... |
OMIM:171420 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
| Cartilage-Hair Hypoplasia |
|
Sparse eyebrow, Gingival overgrowth, Hypocalcemia, Abnormal palate morphology, Abnormality of ret... |
ORPHA:175 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Macroglossia, Hypertrichosis, Heparan sulfate excretion in urine, Hepatosplenome... |
ORPHA:505248 |
| Woolly Hair |
|
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... |
ORPHA:170 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Premature loss of primary teeth, Splenomegaly, Hypocalcemia, Hepatomeg... |
ORPHA:667 |
| Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia |
OMIM:127000 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Hallermann-Streiff Syndrome |
|
High, narrow palate, Narrow palate, Sparse hair, Sparse eyebrow, Natal tooth, Dental malocclusion... |
OMIM:234100 |
| Alg12-Cdg |
|
Hypoalbuminemia, Small nail, Hypocholesterolemia, Micrognathia, Hyponatremia, Thin upper lip verm... |
ORPHA:79324 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... |
OMIM:613095 |
| Glucose-Galactose Malabsorption |
|
Renal insufficiency, Nephrolithiasis, Hematuria, Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| 22Q11.2 Deletion Syndrome |
|
Carious teeth, Hypopigmented skin patches, Micrognathia, Narrow mouth, Polycystic kidney dysplasi... |
ORPHA:567 |
| Non-Functioning Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Elevated urina... |
ORPHA:94080 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hepatomegaly, Hyperkalemia, Hemolyti... |
OMIM:608885 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... |
ORPHA:14 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Mania, Enuresis, Decreased HDL cholesterol concentration, Abnormal eating behavi... |
ORPHA:247585 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypophosphatemic ri... |
OMIM:276700 |
| Renal Dysplasia |
|
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia |
OMIM:602722 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Tooth malposition, Nephrocalcinosis, Micrognathia, Hyperphosphaturia, Hypophosphatemia, Hypercalc... |
OMIM:156400 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Xanthelasma, Hyperlipid... |
OMIM:232200 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Left ventricular hypertrophy, Hypocalcemia, Pigmentary retinopathy |
ORPHA:746 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... |
ORPHA:33445 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Hyperaldosteronism, Decreased circulating renin level, Hypokalemia, Hypercalciuria, P... |
OMIM:613677 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Acute kidney injury, Oliguria, Anuria, Leukocytosis, Hypocalcemia, Hyponatremia, Decreased urine ... |
ORPHA:544482 |
| Smith-Lemli-Opitz Syndrome |
|
Multicystic kidney dysplasia, Micrognathia, Renal hypoplasia/aplasia, Hypospadias, Self-injurious... |
ORPHA:818 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular... |
OMIM:145981 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Reduced natural killer cell count, Lymphopenia, Persistence of primary teeth, Neutropenia, High p... |
OMIM:619752 |
| Kaufman Oculocerebrofacial Syndrome |
|
Sparse eyebrow, Carious teeth, Diastema, Hypocholesterolemia, Micrognathia, Narrow mouth, Thin up... |
OMIM:244450 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Hematuria, Hypophosphatemia, E... |
ORPHA:534 |
| Orofaciodigital Syndrome I |
|
Sparse hair, Alopecia, Carious teeth, Microretrognathia, Dry hair, Cleft upper lip, Hamartoma of ... |
OMIM:311200 |
| Liver Disease, Severe Congenital |
|
Dry hair, Hyperbilirubinemia, Micrognathia, Hepatomegaly, Hypospadias, Hypoproteinemia, Aminoacid... |
OMIM:619991 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Methionine Malabsorption Syndrome |
|
Aminoaciduria, Positive ferric chloride test, Blue irides, White hair |
OMIM:250900 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Hypercalcemia |
OMIM:145980 |
| Rabson-Mendenhall Syndrome |
|
Abnormality of the dentition, Nephrocalcinosis, Long penis, Polydipsia, Dental crowding, Prematur... |
ORPHA:769 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Sparse hair, Mandibular prognathia, Alopecia, Sparse eyebrow, Delayed eruption of teeth, Prematur... |
OMIM:268400 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Abno... |
ORPHA:895 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, Cleft upper lip, Premature graying of hair, Abnormal hair morphology,... |
ORPHA:894 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:300946 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
| Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Nail dystrophy, Left ventricular hypertrophy, Thrombocyt... |
ORPHA:31150 |
| Dominant Beta-Thalassemia |
|
Abnormality of the dentition, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of ... |
ORPHA:231226 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Fair hair, Malar flattening, Hyperactivity, Blue irides, Red hair, Mandibular progna... |
OMIM:614613 |
| Beta-Thalassemia Major |
|
Abnormality of the dentition, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of ... |
ORPHA:231214 |
| Orofacial Cleft 15 |
|
Sparse eyebrow, High anterior hairline, Palate fistula, Sparse eyelashes, Bilateral cleft palate,... |
OMIM:616788 |
| Malignant Hyperthermia Of Anesthesia |
|
Acute kidney injury, Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase aft... |
ORPHA:423 |
| Lead Poisoning |
|
Chronic kidney disease, Depression, Delayed eruption of teeth, Imbalanced hemoglobin synthesis, D... |
ORPHA:330015 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis, Hepatomegaly |
OMIM:613977 |
| Bartter Syndrome, Type 1, Antenatal |
|
Nephrocalcinosis, Hyperchloriduria, Increased serum prostaglandin E2, Renal juxtaglomerular cell ... |
OMIM:601678 |
| Renal Tubular Acidosis Iii |
|
Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elevated circul... |
ORPHA:340 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypocalciuria, Enuresis, Polydipsia, Hypomagnesemia, Hyperaldosteronism, Renal sodium wasting, Hy... |
OMIM:612780 |
| Nance-Horan Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Mandibular prognathia |
ORPHA:627 |
| Diaphanospondylodysostosis |
|
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Hypoplastic fingernail, Micrognathia, Cl... |
OMIM:608022 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Exercise-Induced Malignant Hyperthermia |
|
Acute kidney injury, Oliguria, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kin... |
ORPHA:466650 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Abnormal ur... |
ORPHA:168558 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... |
OMIM:134600 |
| Lysosomal Acid Lipase Deficiency |
|
Renal salt wasting, Hyperkalemia, Hypernatriuria, Abnormal urine potassium concentration, Hepatos... |
ORPHA:275761 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Hyperplasia of the maxilla, Microcytic anemia, Hemoglobin Barts, He... |
ORPHA:846 |
| Cystinosis |
|
Nephropathy, Aminoaciduria, Polydipsia, Renal insufficiency, Renal tubular dysfunction, Proteinur... |
ORPHA:213 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Widely-spaced maxillary central incisors, Fine hair, Inappropriate laughter, Micrognathia, Wide m... |
ORPHA:363686 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Abnormality of canine, Microglossia, Small nail, Cleft mandible, Thin eyebrow, Tented upper lip v... |
ORPHA:364577 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Carious teeth, Natal tooth, Emotional lability, Motor stereotypy, Hypospadias, Self-injurious beh... |
ORPHA:353281 |
| Helsmoortel-Van Der Aa Syndrome |
|
Carious teeth, Ankyloglossia, Polyphagia, Everted lower lip vermilion, Motor stereotypy, Dysphagi... |
OMIM:615873 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Abnormal ur... |
ORPHA:289548 |
| Angelman Syndrome Due To A Point Mutation |
|
Iris hypopigmentation, Mandibular prognathia, Hypopigmentation of the skin, Widely spaced teeth, ... |
ORPHA:411511 |
| Igg4-Related Thyroid Disease |
|
Sialadenitis, Dysphagia, Hypocalcemia |
ORPHA:64744 |
| Griscelli Syndrome |
|
Silver-gray hair, Iris hypopigmentation, Hypopigmented skin patches, Abnormal circulating lipid c... |
ORPHA:381 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Hypomagnesemia 2, Renal |
|
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia |
OMIM:154020 |
| Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
| Liddle Syndrome 1 |
|
Hypokalemia, Renal insufficiency, Decreased circulating renin level |
OMIM:177200 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Alopecia universalis, Carious teeth, Delayed eruption of teeth, Irritability, Hypophosphatemia, E... |
OMIM:277440 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Hyperphosphatemia, Hypocalcemic tetany, Persistence of primary teeth, Calvarial os... |
ORPHA:93325 |
| Smith-Lemli-Opitz Syndrome |
|
Micrognathia, Duplicated collecting system, Hepatomegaly, Hypospadias, Renal agenesis, Hyperactiv... |
OMIM:270400 |
| Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Sparse eyebrow, Hypopigmentation of the skin, Long philtrum,... |
OMIM:252500 |
| Orofaciodigital Syndrome Iii |
|
Bifid uvula, Microdontia, Hyperconvex nail, Bifid tongue, Supernumerary tooth, Tongue nodules |
OMIM:258850 |
| Bartter Syndrome, Type 3 |
|
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hyperaldosteronism, Increased urinary potassiu... |
OMIM:607364 |
| Autosomal Recessive Robinow Syndrome |
|
Multicystic kidney dysplasia, Open bite, Ankyloglossia, Micrognathia, Alopecia, Downturned corner... |
ORPHA:1507 |
| Distal Deletion 12Q |
|
High, narrow palate, Congenital hypertrophy of left ventricle, Microglossia, Small nail, Long phi... |
ORPHA:96149 |
| Multiple Myeloma |
|
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Splenomegaly, An... |
ORPHA:29073 |
| Leprechaunism |
|
Nephrocalcinosis, Long penis, Facial hypertrichosis, Hypertrichosis, Hyperaldosteronism, Hypokale... |
ORPHA:508 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Hirsutism |
ORPHA:90301 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hyperaldosteronism, Hypokalemia |
OMIM:605635 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Vitiligo, Macrocytic anemia, Hyperuricemia, Hyponatremia, Decreased circulatin... |
ORPHA:199299 |
| Woolly Hair Nevus |
|
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... |
ORPHA:79414 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... |
OMIM:203200 |
| Hallermann-Streiff Syndrome |
|
High, narrow palate, Abnormality of the dentition, Sparse hair, Alopecia, Natal tooth, Sparse eye... |
ORPHA:2108 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Urethritis, Hematuria, Elevated circulating C-reactive protein concentrat... |
ORPHA:449395 |
| Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Hypercalcemia, Increased circulating cortisol level |
ORPHA:97289 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Polydipsia, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithias... |
ORPHA:99880 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
| Beta-Thalassemia Intermedia |
|
Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231222 |
| Digeorge Syndrome |
|
High, narrow palate, Unilateral renal agenesis, Bifid uvula, Micrognathia, Renal insufficiency, S... |
OMIM:188400 |
| Autosomal Dominant Robinow Syndrome |
|
Onychogryposis of fingernail, Open bite, Micrognathia, Anodontia, Hypospadias, Epispadias, Abnorm... |
ORPHA:3107 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Small nail, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Oral ulcer,... |
OMIM:617052 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
High, narrow palate, Nephrocalcinosis, Abnormality of the urinary system, Downturned corners of m... |
ORPHA:369837 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Dental crowding, Tented upper lip vermilion, Open mouth, Hyperactivity, Mandibular prognathia, Im... |
OMIM:300143 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Self-injurious behavior, Sparse eyebrow, Long philtrum, Thick lower lip vermilion, Tented upper l... |
OMIM:620075 |
| Chime Syndrome |
|
Sparse hair, Abnormality of the dentition, Acute leukemia, Fine hair, Abnormal dental morphology,... |
ORPHA:3474 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Urinary retention, Hypomagnesemia, Decreased urinary potassium, Transient h... |
ORPHA:79102 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
| Parathyroid Carcinoma |
|
Nephrocalcinosis, Polydipsia, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithias... |
ORPHA:143 |
| Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Hypertrichosis, Increased urinary cortisol level, Hyperaldo... |
ORPHA:1501 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Hermansky-Pudlak Syndrome 3 |
|
Gingival bleeding, Hypopigmentation of the skin, Abnormal number of dense granules, Albinism, Hyp... |
OMIM:614072 |
| Elsahy-Waters Syndrome |
|
Bifid uvula, Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Delayed erupt... |
OMIM:211380 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... |
OMIM:263200 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Retrognathia, Microcytic anemia, Micrognathia, Malar flattening, Aplasia/Hypoplas... |
ORPHA:98791 |
| Ogden Syndrome |
|
Everted upper lip vermilion, Thick upper lip vermilion, Hyperbilirubinemia, Micrognathia, High pa... |
OMIM:300855 |
| Bartter Syndrome Type 4 |
|
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Hyperaldosteronism... |
ORPHA:89938 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypoplasia of the maxilla, Depression, Dental crowding, Persistence of primary teeth, Micrognathi... |
OMIM:170390 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Recurrent urinary tract infections, Pancytopenia, Hypocalcemia, Anemia, Unconjug... |
OMIM:613658 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Mandibular prognathia, Hypopigmentation of the skin, Widely spaced teeth, ... |
ORPHA:98794 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Paratho... |
ORPHA:405 |
| Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia, Hydroxyprolinuria, Premature loss of teeth |
OMIM:602080 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Hypotrichosis 8 |
|
Abnormality of the dentition, Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Spar... |
OMIM:278150 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Oliguria, Polydipsia, Recurrent urinary tract infections, Hepatosplenomegaly... |
ORPHA:731 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Microphallus, Hyponatremia, Penoscrotal hypospadias, Micropenis, Perineal hypospadias, Hyperkalem... |
OMIM:201810 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Abnormality of the dentition, Lymphopenia, Irritability, Aggressive behavior, Hyperactivity, Thin... |
ORPHA:391307 |
| Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
| Monosomy 13Q34 |
|
Horizontal eyebrow, Micrognathia, Hypercalcemia, Fetal pyelectasis |
ORPHA:96168 |
| Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Increased urinary potassium, Decreased circulating renin level, Hypokalemia, Glucocor... |
ORPHA:231580 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:256710 |
| Waardenburg-Shah Syndrome |
|
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... |
ORPHA:897 |
| Bloom Syndrome |
|
Hypopigmentation of the skin, Hypertrichosis, Malar flattening, Spotty hypopigmentation, Agenesis... |
OMIM:210900 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Polydipsia, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration... |
OMIM:602522 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... |
ORPHA:276621 |
| Koolen-De Vries Syndrome |
|
High, narrow palate, Abnormality of the dentition, Abnormal dental enamel morphology, Vesicourete... |
ORPHA:96169 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hyperpigmentation of the skin |
ORPHA:90790 |
| Pheochromocytoma |
|
Elevated urinary norepinephrine level, Renal artery stenosis, Proteinuria, Hypercalcemia, Cafe-au... |
OMIM:171300 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Polyphagia, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:177910 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
ORPHA:90038 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Ankyloglossia, Micrognathia, Chordee, Sparse hair, Hypospadias, Self-injurious behavior, Sparse e... |
OMIM:619841 |
| Argininemia |
|
Oroticaciduria, Hyperammonemia, Hyperargininemia, Irritability, Hyperactivity, Anorexia, Hepatome... |
OMIM:207800 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Hyperaldosteronism, Decreased glomerular filtration rate, Renal... |
OMIM:613090 |
| Johanson-Blizzard Syndrome |
|
Abnormality of the nail, Downturned corners of mouth, Long philtrum, Fair hair, Agenesis of perma... |
OMIM:243800 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Carious teeth, Natal tooth, Micrognathia, Emotional lability, Abnormality of the kidney, High pal... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Carious teeth, Natal tooth, Micrognathia, Emotional lability, Abnormality of the kidney, High pal... |
ORPHA:353277 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Mandibular prognathia, Hypopigmentation of the skin, Widely spaced teeth, ... |
ORPHA:98795 |
| Chédiak-Higashi Syndrome |
|
Gingival bleeding, Periodontitis, Hemophagocytosis, Atrophy of alveolar ridges, Hepatosplenomegal... |
ORPHA:167 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... |
ORPHA:2885 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear-induced behavior, Emotional lability, Hirsutism, Hypokalemia, Nephrolithiasis |
OMIM:219090 |
| Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Hypokalemia, Left ventricular hypertrophy, Hypercalciuria, Glucocortocoid-insensitive... |
ORPHA:251274 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Dysphag... |
OMIM:219800 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Diastema, Agenesis of molar, Microdontia, Micropenis, Supernumerary tooth, Hypospadias |
OMIM:619718 |
| Dihydropyrimidinase Deficiency |
|
Elevated circulating thymine concentration, Elevated urinary thymine level, Elevated urinary dihy... |
OMIM:222748 |
| Alg9-Cdg |
|
Bifid uvula, Hypoplasia of the bladder, Microretrognathia, Long philtrum, Hypertrichosis, Microgn... |
ORPHA:79328 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Decreased circulating cortisol level, Polyphagia, Hyperbilirubinemia |
OMIM:609734 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... |
ORPHA:2751 |
| Orofaciodigital Syndrome Ii |
|
Hypoplasia of the maxilla, Lobulated tongue, Micrognathia, Malar flattening, Agenesis of central ... |
OMIM:252100 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Urinary hesitancy, Hyperactivity, Nocturia, Urinary incontinence, Ur... |
OMIM:609727 |
| Fibrous Dysplasia Of Bone |
|
Abnormal facial skeleton morphology, Increased circulating cortisol level, Abnormal mandible morp... |
ORPHA:249 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Hypocalcemic tetany, Decreased proportion of naive T cells, A... |
ORPHA:83471 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Self-injurious behavior, Retrognathia, Persistence of hemoglobin F, Micrognathia, Recurrent hand ... |
OMIM:617101 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
High, narrow palate, Iris hypopigmentation, Delayed eruption of teeth, Hypopigmented skin patches... |
ORPHA:3214 |
| Obesity And Hypopigmentation |
|
Red hair, Polyphagia |
OMIM:620195 |
| Gitelman Syndrome |
|
Hypocalciuria, Enuresis, Renal magnesium wasting, Polydipsia, Hypomagnesemia, Hypokalemia, Salt c... |
OMIM:263800 |
| Spinal Cord Injury |
|
Hypercalcemia, Urinary retention, Urinary bladder sphincter dysfunction |
ORPHA:90058 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Lym... |
ORPHA:90363 |
| Diamond-Blackfan Anemia 6 |
|
Bifid uvula, Increased mean corpuscular volume, Retrognathia, Cleft upper lip, Persistence of hem... |
OMIM:612561 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
| Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Microphallus, Hyperechogenic kidneys, Thick upper lip vermilion, Micrognathia, Media... |
OMIM:612651 |
| Familial Hyperaldosteronism Type I |
|
Hypokalemia, Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism |
ORPHA:403 |
| Helix Syndrome |
|
Hypermagnesemia, Hypocalciuria, Polydipsia, Renal insufficiency, Nephrolithiasis, Hypokalemia, Po... |
OMIM:617671 |
| Vici Syndrome |
|
Everted upper lip vermilion, Lymphopenia, Micrognathia, Decreased proportion of CD4-positive help... |
OMIM:242840 |
| Glucagonoma |
|
Depression, Increased circulating cortisol level, Acanthocytosis, Hepatomegaly, Anorexia, Steator... |
ORPHA:97280 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperbi... |
OMIM:227810 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Abnormality of the dentition, Depression, Recurrent urinary tract infect... |
ORPHA:847 |
| Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Renal cortical adenoma, Decreased circulating renin level, Glucocortocoid-insensitiv... |
ORPHA:231632 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Chand Syndrome |
|
Hydroureter, Agenesis of permanent teeth, Nail dysplasia, Abnormal oral frenulum morphology, Curl... |
ORPHA:1401 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:214700 |
| Chediak-Higashi Syndrome |
|
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Periodontitis, Hemophagocy... |
OMIM:214500 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Macroglossia, Mandibular prognathia, Visceromegaly, Polycythemia, Melanocytic nevus,... |
ORPHA:116 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
| W Syndrome |
|
Abnormality of the scalp hair, Upper lip pit, Broad uvula, Submucous cleft hard palate, Agenesis ... |
ORPHA:2804 |
| Piebaldism |
|
Hypopigmented skin patches, Long philtrum, White forelock, Heterochromia iridis, White eyebrow, W... |
ORPHA:2884 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Decreased urinary urate, Lymphopenia, Autoimmune hemolytic anemia, Hyperactivity, A... |
ORPHA:760 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Decreased circulating renin level, Hypokalemia, Nephrolithiasis, Left ventricular hypertrophy, Pr... |
OMIM:615474 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Generalized hypopigmentation of hair, Ir... |
ORPHA:238468 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Increased circulating cortisol level, Increased urinary potassium, Decreased circulating renin le... |
ORPHA:231625 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... |
ORPHA:29072 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Slow-growing hair, Brittle hair, Increased HbA2 hemoglobin, Decreased mean co... |
OMIM:616943 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, HbH hemoglobin, Renal agenesis, Widely-spaced maxillary central incisors, ... |
OMIM:301040 |
| Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Macroglossia, Glossitis, Hypopigme... |
ORPHA:2221 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
| Syndromic Diarrhea |
|
Renal hypoplasia, Trichorrhexis nodosa, Lymphopenia, Brittle hair, Splenomegaly, Hypoplasia of th... |
ORPHA:84064 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Polydipsia, Low-molecular-weight proteinur... |
ORPHA:18 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Polyphagia, Hypopigmentation of the skin |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Polyphagia, Hypopigmentation of the skin |
ORPHA:71526 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Pigmentary retinopathy, Polydipsia, Glycosuria, Low-molecular-weight proteinuria, ... |
ORPHA:411629 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia, Delayed eruption of teeth, Retrognathia, Horseshoe kidney, Gingival overgrowth, ... |
OMIM:235510 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Asplenia, Enlarged kidney, Cystic renal dysplasia |
OMIM:615415 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Multiple renal cysts, Thrombocytope... |
ORPHA:464329 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased urinary 11-deoxycorticosterone level, Alopecia, Long penis, Decreased circulating renin... |
ORPHA:90795 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypokalemia, Polydipsia, Hyperaldosteronism, Nephrolithiasis |
ORPHA:369929 |
| Prader-Willi Syndrome Due To Translocation |
|
Carious teeth, Micrognathia, Everted lower lip vermilion, Abnormality of the kidney, Microdontia ... |
ORPHA:177907 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Abnormality of the nail, Lip discoloration |
ORPHA:621 |
| Craniosynostosis 2 |
|
Cleft soft palate, Supernumerary tooth |
OMIM:604757 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Reduced renal corticomedullary differentiation, Splenomegaly, Hepat... |
OMIM:618541 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Cleft upper lip, Hamartoma of tongue, Bifid tongue, Micropenis, Polycystic kidne... |
OMIM:613091 |
| Cleidocranial Dysplasia 1 |
|
High, narrow palate, Narrow palate, Absent paranasal sinuses, Micrognathia, Hypoplastic frontal s... |
OMIM:119600 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Urethral atresia, Enlarged kidney |
OMIM:314390 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Williams Syndrome |
|
Carious teeth, Open bite, Micrognathia, Overfriendliness, Everted lower lip vermilion, Depression... |
ORPHA:904 |
| Duplication Of The Pituitary Gland |
|
Retrognathia, Self-mutilation, Supernumerary tooth, Wide mouth, Cleft palate |
ORPHA:314621 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Hypouricemia, Decreas... |
ORPHA:3337 |
| Mercury Poisoning |
|
Hypokalemia, Acute kidney injury, Anorexia |
ORPHA:330021 |
| Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... |
ORPHA:79433 |
| Bartter Syndrome, Type 2, Antenatal |
|
Nephrocalcinosis, Hyperchloriduria, Increased serum prostaglandin E2, Polydipsia, Renal juxtaglom... |
OMIM:241200 |
| Degcags Syndrome |
|
Chronic kidney disease, Oral-pharyngeal dysphagia, Premature graying of hair, Hepatosplenomegaly,... |
OMIM:619488 |
| 8Q24.3 Microdeletion Syndrome |
|
Unilateral renal agenesis, Highly arched eyebrow, Microretrognathia, Bilateral renal hypoplasia, ... |
ORPHA:508488 |
| Nance-Horan Syndrome |
|
Supernumerary maxillary incisor, Screwdriver-shaped incisors, Diastema, Mulberry molar |
OMIM:302350 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Unilateral renal agenesis, Dilatation of the renal pelvis, Retrognathia, Recurrent urinary tract ... |
ORPHA:268261 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis,... |
OMIM:618849 |
| Ataxia-Telangiectasia |
|
Lymphopenia, Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair |
ORPHA:100 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Polysplenia, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, ... |
OMIM:208540 |
| Charge Syndrome |
|
Renal hypoplasia, Renal agenesis, Cleft upper lip, Horseshoe kidney, Lymphopenia, Micrognathia, H... |
OMIM:214800 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Conical tooth, Widely spaced teeth, Micrognathia, Microdontia, Hypodontia, Supernumerary tooth, S... |
ORPHA:90024 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Low-molecular-weight pro... |
ORPHA:47159 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
| Vipoma |
|
Increased circulating cortisol level, Hypokalemia, Anorexia, Hepatomegaly, Hypercalcemia, Normoch... |
ORPHA:97282 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Dysphagia |
ORPHA:70472 |
| Arthrogryposis, Distal, Type 12 |
|
High palate, Dental crowding, Agenesis of maxillary incisor |
OMIM:620545 |
| Hoyeraal-Hreidarsson Syndrome |
|
Generalized hypopigmentation of hair, Oral leukoplakia, Premature graying of hair, Generalized hy... |
ORPHA:3322 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Self-injurious behavior, Depression, Polydipsia, Narcolepsy, Hyperlipidemia, Emotional lability, ... |
ORPHA:293987 |
| Familial Hyperaldosteronism Type Ii |
|
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism |
ORPHA:404 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Long penis, Hyperkalemia, Hypernatriuria, Frontal balding, Hirsutism, Hyponatremia, Decreased cir... |
ORPHA:90794 |
| Williams-Beuren Syndrome |
|
Small nail, Premature graying of hair, Open mouth, Obsessive-compulsive trait, Renal insufficienc... |
OMIM:194050 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia |
OMIM:188580 |
| Osteootohepatoenteric Syndrome |
|
Increased serum bile acid concentration, Proteinuria, Hypokalemia, Grade II vesicoureteral reflux... |
OMIM:619377 |
| Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... |
ORPHA:79435 |
| Hermansky-Pudlak Syndrome 1 |
|
Gingival bleeding, Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in ... |
OMIM:203300 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra... |
ORPHA:90041 |
| Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Somatostatinoma |
|
Increased circulating cortisol level, Hepatomegaly, Hypochromic microcytic anemia, Anorexia, Stea... |
ORPHA:97283 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased urinary 11-deoxycorticosterone level, Decreased circulating renin level, Hypokalemia, D... |
ORPHA:90793 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Micrognathia... |
ORPHA:124 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Microcytic anemia, Ankyloglossia, Micrognathia, Splenomegaly, Hepatomegaly,... |
OMIM:619525 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia |
OMIM:613239 |
| Waardenburg Syndrome |
|
Hypopigmented skin patches, Abnormal lip morphology, Premature graying of hair, Abnormal eyebrow ... |
ORPHA:3440 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Carious teeth, Ureterocele, Sparse eyelashes, Absence of Stensen duct, Duplicated collecting syst... |
OMIM:604292 |
| Oculocutaneous Albinism Type 1 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue... |
ORPHA:352731 |
| Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... |
OMIM:194080 |
| Microphthalmia, Syndromic 2 |
|
Bifid uvula, Radiculomegaly, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Persi... |
OMIM:300166 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Dental malocclusion, Downturned corners ... |
OMIM:610829 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Increased circulating cortisol level, Cafe-au-lait spot |
OMIM:131100 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Horseshoe kidney, Splenomegaly, Median cleft upper lip, Hypodontia, Nail dysplasia, Hepatomegaly,... |
OMIM:617088 |
| Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Splenic cyst, Enlarged kidney |
OMIM:618188 |
| Familial Adenomatous Polyposis 1 |
|
Carious teeth, Eruption failure, Hyperpigmentation of the skin, Odontoma, Supernumerary tooth |
OMIM:175100 |
| Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
| Ziegler-Huang Syndrome |
|
Micropenis, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
| Sarcoidosis |
|
Nephrocalcinosis, Alopecia, Hypopigmentation of the skin, Parotitis, Leukopenia, Hypercalcemia, R... |
ORPHA:797 |
| Orofaciodigital Syndrome Xiv |
|
Cleft lip, Natal tooth, Microretrognathia, Hamartoma of tongue, Unilateral renal hypoplasia, Micr... |
OMIM:615948 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney, Polysplenia |
OMIM:200995 |
| Gardner Syndrome |
|
Abnormality of the dentition, Pilomatrixoma, Multiple unerupted teeth, Odontoma, Abnormality of s... |
ORPHA:79665 |
| Muenke Syndrome |
|
High, narrow palate, Hypopigmented skin patches, Malar flattening, Hypopigmentation of hair, Hype... |
ORPHA:53271 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Long penis, Decreased circulating renin level, Hypokalemia, Elevated serum 11-deoxycortisol, Hype... |
OMIM:202010 |
| Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... |
ORPHA:79432 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Bifid ureter, Transient neutropenia, Nephroblastoma, Thick vermilio... |
ORPHA:500095 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... |
OMIM:130650 |
| Hermansky-Pudlak Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Abnormal dental enamel morp... |
ORPHA:79430 |
| Juvenile Polyposis Syndrome |
|
Anemia, Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
| Shwachman-Diamond Syndrome 1 |
|
Nephrocalcinosis, Persistence of hemoglobin F, Pancytopenia, Hepatomegaly, Acute myeloid leukemia... |
OMIM:260400 |
| Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary norepinephrine level, Abnormal tongue morphology, Elevated urinary vanillylmande... |
ORPHA:653 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Abnormality of the urinary system, Ureteral stenosis, Ocular albinism, Nar... |
ORPHA:2719 |
| Isolated Cleft Lip |
|
Velopharyngeal insufficiency, Supernumerary maxillary incisor, Macrodontia, Hypodontia, Bilateral... |
ORPHA:199302 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Depression, Abnormal circulating biopterin concentration, Abnormal circulating neopterin concentr... |
OMIM:612716 |
| Ppoma |
|
Hepatomegaly, Hypercalcemia, Increased circulating cortisol level, Anorexia |
ORPHA:97278 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Hyperechogenic kidneys, Reduced renal corticomedullary differentiation, Thick eyebrow, Emotional ... |
OMIM:620047 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Supernumerary nipple, Hepatomegaly, Hypospadias, Nephroblastoma... |
OMIM:312870 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Sotos Syndrome |
|
Small nail, Abnormality of the kidney, Acute lymphoblastic leukemia, Hypospadias, Hypopigmentatio... |
ORPHA:821 |
| Nelson Syndrome |
|
Increased circulating cortisol level, Increased urinary cortisol level, Abnormality of the spheno... |
ORPHA:199244 |
| Choreoacanthocytosis |
|
Temporomandibular joint crepitus, Acanthocytosis, Emotional lability, Protruding tongue, Hair-pul... |
ORPHA:2388 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Vesicovaginal fistula, Horseshoe kidney, Malar flattening, Decreased circulating renin level, Hyp... |
OMIM:201750 |
| Histidinemia |
|
Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Chromosome 15Q25 Deletion Syndrome |
|
Polysplenia, Cleft upper lip, Tented upper lip vermilion, Macrocytic anemia, Attention deficit hy... |
OMIM:614294 |
| Brittle Cornea Syndrome 1 |
|
Red hair, Dentinogenesis imperfecta |
OMIM:229200 |
| Proteus Syndrome |
|
Abnormality of the nail, Long penis, Thymus hyperplasia, Carious teeth, Irregular hyperpigmentati... |
ORPHA:744 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Micropenis, Methemoglobinemia, Hypospadias, Scrotal hypospadias |
OMIM:250790 |
| Oculocutaneous Albinism Type 1B |
|
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... |
ORPHA:79434 |
| Multiple Endocrine Neoplasia Type 1 |
|
Depression, Increased circulating cortisol level, Primary hypercortisolism, Nephrolithiasis, Larg... |
ORPHA:652 |
| Immunodeficiency 87 And Autoimmunity |
|
Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po... |
OMIM:619573 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of primary teeth, Dental crowding, Persistence of hemoglobin F |
OMIM:619769 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Abnormal temper tantrums, Hypopigmentation of the skin, Downturned corners of mouth, Thin upper l... |
ORPHA:398069 |
| Grfoma |
|
Hepatomegaly, Hypercalcemia, Increased circulating cortisol level, Anorexia |
ORPHA:97261 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Hypoalbuminemia, Lymphopenia, Abnormal lymphocyte morpholo... |
ORPHA:99826 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Abnormal temper tantrums, Hypopigmentation of the skin, Downturned corners of mouth, Thin upper l... |
ORPHA:398079 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Renal agenesis, Polysplenia, Horseshoe kidney, Hypoplastic toenails, Cardiomegaly, Hepatomegaly, ... |
OMIM:306955 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Frontal balding, Increased circulating cortisol level, Increased urinary cortisol level, Hirsutis... |
ORPHA:786 |
| Diamond-Blackfan Anemia 1 |
|
Renal hypoplasia, Increased mean corpuscular volume, Retrognathia, Cleft upper lip, Persistence o... |
OMIM:105650 |
| Carney Complex, Type 1 |
|
Palatine myxoma, Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions |
OMIM:160980 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Macroglossia, Enlarged kidney |
OMIM:261740 |
| Craniosynostosis And Dental Anomalies |
|
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Dental crowding, Finge... |
OMIM:614188 |
| Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Hamartoma of tongue, Accessory oral frenulum, Epispadias, Bifid tongue, Supern... |
ORPHA:434179 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Long philtrum, Thick lower lip vermilion, Narrow mouth, Aggressive behavior, Mesiodens |
ORPHA:314647 |
| Ermine Phenotype |
|
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... |
ORPHA:999 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Long philtrum, Open bite, Micrognathia, Deep philtrum, Everted lower lip v... |
ORPHA:1974 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Self-injurious behavior, Abnormal temper tantrums, Iris hypopigmentation, Hypopigmentation of the... |
ORPHA:177901 |
| Peters-Plus Syndrome |
|
Renal hypoplasia, Hypoplasia of the maxilla, Facial hypertrichosis, Cleft upper lip, Widely space... |
OMIM:261540 |
| Meacham Syndrome |
|
Accessory spleen, Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Familial Adenomatous Polyposis |
|
Abnormal cementum morphology, Abnormality of the dentition, Eruption failure, Odontoma, Supernume... |
ORPHA:733 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Self-injurious behavior, Abnormal temper tantrums, Iris hypopigmentation, Hypopigmentation of the... |
ORPHA:98793 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Supernumerary tooth, Odontoma, Pilomatrixoma |
ORPHA:247806 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased urinary cortisol level, Renal angiomyolipoma, Hypercalcemia, Increased circulating cort... |
ORPHA:276152 |
| Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hypercalcemia, Increased circulating cortisol level |
ORPHA:913 |
| Oculocutaneous Albinism Type 1A |
|
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... |
ORPHA:79431 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Self-injurious behavior, Abnormal temper tantrums, Iris hypopigmentation, Hypopigmentation of the... |
ORPHA:177904 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Hepatomegaly, Hypocalcemic seizures, Splenomegaly |
OMIM:612301 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Self-injurious behavior, Abnormal temper tantrums, Iris hypopigmentation, Hypopigmentation of the... |
ORPHA:98754 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Bifid uvula, Microretrognathia, Agenesis of mandibular central incisor, Cleft mandible, Micrognat... |
OMIM:268305 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Enlarged kidney, Nephroblastoma |
ORPHA:276280 |
| Thymoma |
|
Aplastic anemia, Imbalanced hemoglobin synthesis, Glomerulonephritis, Leukemia, Pure red cell apl... |
ORPHA:99867 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Albinism, Oculocutaneous, Type Ia |
|
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... |
OMIM:203100 |
| Niemann-Pick Disease Type C |
|
Depression, Narcolepsy, Hepatosplenomegaly, Splenomegaly, Low frustration tolerance, Disinhibitio... |
ORPHA:646 |
| Scorpion Envenomation |
|
Acute kidney injury, Ketonuria, Glycosuria, Hypokalemia, Increased circulating creatine kinase MB... |
ORPHA:466677 |
| Prader-Willi Syndrome |
|
Abnormality of the dentition, Hypopigmentation of the skin, Periodontitis, Downturned corners of ... |
ORPHA:739 |
| Brittle Cornea Syndrome |
|
Abnormality of the dentition, Abnormality of hair pigmentation, Cleft palate |
ORPHA:90354 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Urinary incontinence, Depression, Narcolepsy |
ORPHA:314404 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Narcolepsy, Depression |
OMIM:604121 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| African Trypanosomiasis |
|
Alopecia, Narcolepsy, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Abnormality of circu... |
ORPHA:3385 |
| Duane Retraction Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Central heterochromia, Micrognathia, Low... |
ORPHA:233 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Penoscrotal hypospadias, Micropenis, Patent urachus, Enlarged kidney |
OMIM:618280 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Alkaptonuria |
|
Aminoaciduria, Irregular hyperpigmentation, Elevated urinary homogentisic acid, Dark urine, Nephr... |
ORPHA:56 |
| Vascular Ehlers-Danlos Syndrome |
|
Carious teeth, Periodontitis, Narrow mouth, Abnormality of the gingiva, Hypospadias, High, narrow... |
ORPHA:286 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Splenomegaly,... |
ORPHA:163746 |
| Menkes Disease |
|
Micrognathia, Abnormal palate morphology, Bladder diverticulum, Woolly hair, Hypopigmentation of ... |
ORPHA:565 |
| Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
| Microphthalmia, Syndromic 1 |
|
High, narrow palate, Tooth malposition, Renal hypoplasia, Hydroureter, Dental crowding, Cleft upp... |
OMIM:309800 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Hyponatremia |
OMIM:618426 |
| Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia, Abnormal hair quantity |
ORPHA:91347 |
