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Gene: Kctd1 MGI:1918269

Gene Summary

Name:

potassium channel tetramerisation domain containing 1

Synonyms:

4933402K10Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
eye hemorrhage	Kctd1^em1(IMPC)J	HOM	Early adult	5.42×10^-05
sclerocornea	Kctd1^em1(IMPC)J	HOM	Early adult	3.47×10^-14
increased circulating bilirubin level	Kctd1^em1(IMPC)J	HOM	Early adult	7.32×10^-05
decreased heart weight	Kctd1^em1(IMPC)J	HOM	Early adult	7.90×10^-05
decreased mean corpuscular hemoglobin	Kctd1^em1(IMPC)J	HOM	Early adult	4.99×10^-13
increased circulating cholesterol level	Kctd1^em1(IMPC)J	HOM	Early adult	7.67×10^-20
increased leukocyte cell number	Kctd1^em1(IMPC)J	HOM	Early adult	5.48×10^-10
increased circulating creatinine level	Kctd1^em1(IMPC)J	HOM	Early adult	4.57×10^-39
increased circulating triglyceride level	Kctd1^em1(IMPC)J	HOM	Early adult	1.76×10^-06
increased mean corpuscular hemoglobin concentration	Kctd1^em1(IMPC)J	HOM	Early adult	4.18×10^-05
increased circulating HDL cholesterol level	Kctd1^em1(IMPC)J	HOM	Early adult	1.76×10^-18
decreased mean corpuscular volume	Kctd1^em1(IMPC)J	HOM	Early adult	3.82×10^-13
persistence of hyaloid vascular system	Kctd1^em1(IMPC)J	HOM	Early adult	9.68×10^-12
decreased bone mineral density	Kctd1^em1(IMPC)J	HOM	Early adult	2.93×10^-09
increased circulating total protein level	Kctd1^em1(IMPC)J	HOM	Early adult	4.45×10^-06
cataract	Kctd1^em1(IMPC)J	HOM	Early adult	4.87×10^-06
increased blood urea nitrogen level	Kctd1^em1(IMPC)J	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Kctd1^em1(IMPC)J	HOM	Early adult	0.00
increased circulating calcium level	Kctd1^em1(IMPC)J	HOM	Early adult	9.04×10^-25
thrombocytopenia	Kctd1^em1(IMPC)J	HOM	Early adult	4.12×10^-06
corneal vascularization	Kctd1^em1(IMPC)J	HOM	Early adult	1.54×10^-05
increased vertical activity	Kctd1^em1(IMPC)J	HOM	Early adult	9.48×10^-05

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Auditory Brain Stem Response

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Human diseases caused by Kctd1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Kctd1 (2 diseases)
Human diseases predicted to be associated with Kctd1 (1841 diseases)

The table below shows human diseases associated to Kctd1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Scalp-Ear-Nipple Syndrome		Cataract, Cardiac myxoma, Congestive heart failure, Developmental cataract, Anisocoria, Hypertens...	OMIM:181270
Scalp-Ear-Nipple Syndrome		Hypertension, Cataract	ORPHA:2036

The table below shows human diseases predicted to be associated to Kctd1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomag...	OMIM:613845
Dent Disease 2	Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera...	OMIM:300555
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Cataract, Hyperbilirubinemia	OMIM:618660
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Anemia	ORPHA:2668
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos...	OMIM:308990
Malaria	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Gait imbalance, Hyperbil...	ORPHA:673
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Paralysis, Nephrolithiasis, Renal cyst, Hype...	ORPHA:18
Rhabdoid Tumor	Renal neoplasm, Cerebral palsy, Hypercalcemia, Hematuria, Anemia, Hemiplegia, Thrombocytopenia	ORPHA:69077
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Diffuse Neonatal Hemangiomatosis	Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Anemia, Thrombocytopenia	ORPHA:2123
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Increase...	ORPHA:90041
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612926
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Thrombo...	ORPHA:158048
Idiopathic Hypercalciuria	Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith...	ORPHA:2197
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp...	OMIM:618314
East Syndrome	Salt craving, Ataxia, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increas...	ORPHA:199343
Preeclampsia	Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El...	ORPHA:275555
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia, Hypercalciu...	OMIM:241500
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Jaundice, Schistocytos...	OMIM:274150
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuria, Aminoacidur...	OMIM:239200
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Am...	OMIM:277900
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Abnormal lactate dehydrogenase level, Hematuri...	ORPHA:54057
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Normochromic ane...	OMIM:245900
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c...	OMIM:614817
Fanconi-Bickel Syndrome	Elevated gamma-glutamyltransferase level, Fasting hypoglycemia, Ketonuria, Hypouricemia, Elevated...	OMIM:227810
Hypercalcemia, Infantile, 1	Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci...	OMIM:143880
Pentosuria	Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o...	ORPHA:2843
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Senior-Loken Syndrome 4	Polyuria, Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Anemia	OMIM:606996
Type 1 Diabetes Mellitus	Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Poly...	OMIM:222100
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia	OMIM:144300
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, Conjunc...	OMIM:603552
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction	OMIM:108725
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminot...	ORPHA:2088
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog...	ORPHA:251004
Hypocalcemia, Autosomal Dominant 1	Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ...	OMIM:601198
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Multiple Myeloma	Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperprot...	ORPHA:29073
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp...	OMIM:237800
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt...	OMIM:607616
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Elevated creatine kinase after exercise, Reduced circulating aldolase concentra...	ORPHA:57
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyuria, Renal salt wasting, ...	OMIM:601678
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent...	OMIM:136120
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Increased proinsulin:insulin ratio, Nephrocalcinosi...	ORPHA:94086
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Osteoporosis, Gout, Increased ...	OMIM:610947
Autosomal Dominant Hypocalcemia	Writer's cramp, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia...	ORPHA:428
Hyperlysinemia, Type I	Hyperactivity, Hyperlysinemia, Hyperlysinuria, Anemia	OMIM:238700
Lesch-Nyhan Syndrome	Dystonia, Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Self-injuriou...	OMIM:300322
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Essential Fructosuria	Abnormal urine carbohydrate level, Abnormal circulating enzyme concentration or activity, Hypergl...	ORPHA:2056
Bartter Syndrome Type 4	Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili...	ORPHA:89938
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype...	ORPHA:73224
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Elevated urinary 7-biopterin level, Hypertonia, Transient hyperphenylalaninemia, Hyperphe...	OMIM:264070
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney dise...	ORPHA:284426
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta...	OMIM:617056
Sitosterolemia 1	Abnormal bleeding, Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol ...	OMIM:210250
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Splenomegaly,...	OMIM:617388
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Elevated alkaline phosphatase of bone origin, Increased circulating beta-C-ter...	ORPHA:157215
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dystonia, Dysuria, Elevated circulating creatinine concentration, Hyperurico...	ORPHA:79233
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos...	ORPHA:99879
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Ataxia, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Intention tremor, Incr...	OMIM:612780
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina...	OMIM:241200
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia, Elev...	OMIM:620366
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalciuria, Micropenis, Hypospadias, Hypercalcemia	OMIM:614732
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia	OMIM:179700
Dent Disease	Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin...	ORPHA:1652
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Increased serum ir...	ORPHA:98870
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Hypertension, Myocardial infarction	OMIM:608320
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio...	ORPHA:91547
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Gait disturbance, Decr...	OMIM:614170
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria	OMIM:602722
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis	OMIM:239199
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hypertriglyceridemia	OMIM:619175
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Elevated circulating creatine kinase concentration, Hyperkalemia, Increased circulating lactate d...	OMIM:268200
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia	ORPHA:33111
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid...	ORPHA:411536
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Postural tremor, Action tremor, Gait ataxia, Ne...	OMIM:254900
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal bleeding, A...	ORPHA:247598
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Renal insufficiency, Salt craving, Hypoglycemia, Hypercalcemia, ...	ORPHA:95409
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Hypercholanemia, Familial, 2	Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Proteinuria	OMIM:614652
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia	OMIM:612286
Gitelman Syndrome	Salt craving, Ataxia, Polyuria, Paralysis, Renal magnesium wasting, Enuresis, Hypokalemia, Increa...	OMIM:263800
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph...	OMIM:241530
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Anorexia, Thrombocytopenia, He...	OMIM:557000
Paroxysmal Nocturnal Hemoglobinuria	Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti...	ORPHA:447
Blue Diaper Syndrome	Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Non-Functioning Paraganglioma	Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vo...	ORPHA:94080
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, Aggressive behavior, Overfriendliness	OMIM:618010
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Abnormal bleeding, Lymphopenia, Hypoproteinemia, Chorioretinal coloboma	ORPHA:1116
Cholestasis, Progressive Familial Intrahepatic, 12	Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia, Splen...	OMIM:620010
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leukopenia, Gingiv...	ORPHA:99828
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Hypoglycemia, Increased urinary potassium, Chroni...	ORPHA:3337
Leptospirosis	Papilledema, Pericarditis, First degree atrioventricular block, Conjunctival hyperemia, Anorexia,...	ORPHA:509
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Difficu...	OMIM:610717
Hypophosphatasia, Childhood	Elevated urine pyrophosphate, Phosphoethanolaminuria, Elevated plasma pyrophosphate, Low alkaline...	OMIM:241510
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Coloboma, Limbal stem cell ...	ORPHA:2334
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Hypophosphatasia	Craniosynostosis, Recurrent fractures, Hypercalcemia, Anemia	ORPHA:436
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol...	ORPHA:97362
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitroge...	OMIM:620085
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Ataxia, Hyperuricosuria, Increased phosphoribosylpyrophosphate...	ORPHA:411543
Small Cell Carcinoma Of The Bladder	Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia	ORPHA:284400
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g...	ORPHA:84090
Hyperaldosteronism, Familial, Type Iii	Polyuria, Hypercalciuria, Hypokalemia, Polydipsia, Decreased circulating renin level	OMIM:613677
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increased blood urea n...	OMIM:617872
Genetic Recurrent Myoglobinuria	Dark urine, Elevated hepatic transaminase, Renal insufficiency, Recurrent myoglobinuria, Exercise...	ORPHA:99845
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia, Abnormal heart morphology	DECIPHER:16
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N...	OMIM:300554
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr...	OMIM:603553
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Hepatosplenom...	ORPHA:210110
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Rotor Syndrome	Conjugated hyperbilirubinemia, Conjunctival icterus, Hyperbilirubinemia	ORPHA:3111
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Lesch-Nyhan Syndrome	Renal insufficiency, Hemiplegia/hemiparesis, Hematuria, Hyperuricemia, Spasticity, Anemia	ORPHA:510
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia, Attention deficit hyperactivity disorder	OMIM:301033
Reni Syndrome	Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Ataxia, Hypoglycemia...	OMIM:617575
Sandhoff Disease, Adult Form	Dystonia, Reduced beta-hexosaminidase activity, Elevated circulating creatine kinase concentratio...	ORPHA:309169
Hyperinsulinemic Hypoglycemia, Familial, 8	Hyperammonemia, Attention deficit hyperactivity disorder, Atrial septal defect, Hypercholesterole...	OMIM:620211
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Iron deficiency anemia, Elevated circulating alkaline phosphatase concentratio...	ORPHA:89937
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Hijazi-Reis Syndrome	Astigmatism, Gait disturbance, Hyperbilirubinemia, Abnormal repetitive mannerisms, Iris coloboma	OMIM:301094
Adamantinoma	Pathologic fracture, Hypercalcemia	ORPHA:55881
Thrombocytopenia 2	Leukocytosis, Bruising susceptibility, Thrombocytopenia	OMIM:188000
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Urinary incontinence, Tremor, Chorea, Hypocal...	ORPHA:94093
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Hepatic Lipase Deficiency	Hypertriglyceridemia, Angina pectoris, Corneal arcus, Increased HDL cholesterol concentration, Hy...	OMIM:614025
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Oculoskeletodental Syndrome	Renal agenesis, Hypercalcemia, Splenomegaly, Hypercalciuria, Mucopolysacchariduria, Hypocalcemia	OMIM:618440
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Anemia, Abnormal cardiac septum morphology, Decreased skull ossification, Th...	ORPHA:3319
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration, Palpitations	ORPHA:488650
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Ataxia	OMIM:615924
Analbuminemia	Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra...	OMIM:616000
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ...	OMIM:615558
Infantile Sialic Acid Storage Disease	Osteopenia, Cardiomegaly, Conjugated hyperbilirubinemia, Congestive heart failure, Splenomegaly, ...	OMIM:269920
Metaphyseal Chondrodysplasia, Jansen Type	Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Elevated circulating alkaline...	OMIM:156400
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Hyperparathyroidism 4	Nephrolithiasis, Hypercalcemia	OMIM:617343
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Bile Acid Synthesis Defect, Congenital, 5	Portal hypertension, Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity,...	OMIM:616278
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin...	ORPHA:230
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hematuria, Increased mean c...	OMIM:617021
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno...	OMIM:616860
Addison Disease	Hyponatremia, Normocytic anemia, Salt craving, Hypoglycemia, Hypercalcemia, Anorexia, Renal salt ...	ORPHA:85138
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Abnormal bleeding, Lymphopenia, Hypoproteinemia	OMIM:207731
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Diffuse Alveolar Hemorrhage	Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Hemat...	ORPHA:90060
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Renal Glucosuria	Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia	OMIM:233100
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia	ORPHA:94124
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Atypical Hemolytic Uremic Syndrome	Proteinuria, Abnormal lactate dehydrogenase level, Hematuria, Microangiopathic hemolytic anemia, ...	ORPHA:2134
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Spastic ataxia...	OMIM:277410
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Hydroxyprolinemia, Hypercalciuria, Elevated circulating ...	OMIM:239000
Formiminoglutamic Aciduria	Abnormal circulating enzyme concentration or activity, Megaloblastic anemia, Abnormal circulating...	ORPHA:51208
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Methylmalonic ...	OMIM:614857
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia, Corneal opacity, Subcutaneous hemorrhage	ORPHA:1980
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Falls, Elevated circulating creatine kinase concentration, Ankle flexion contracture	OMIM:615883
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H...	ORPHA:464321
Immune Thrombocytopenia	Abnormal bleeding, Thrombocytopenia	OMIM:188030
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia	OMIM:607250
Lymphoproliferative Syndrome, X-Linked, 2	Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circulating ferritin...	OMIM:300635
Glycogen Storage Disease Ixa1	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er...	OMIM:232800
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph...	OMIM:145001
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr...	ORPHA:49041
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
2P21 Microdeletion Syndrome	Nephrolithiasis, Hypoglycemia, Hypocalcemia, Cystinuria	ORPHA:163693
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Portal hypertension, Renal hypoplasia, Hepatosplenom...	ORPHA:84081
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff...	OMIM:619313
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Iris hypopigmentati...	ORPHA:167
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria	OMIM:145980
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Ataxia, Neonatal hyperbilirubinemia, Retinal degeneration	ORPHA:3363
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia	OMIM:612526
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Galloway-Mowat Syndrome 6	Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Abnormal re...	OMIM:618347
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Hypoalbuminemia, Conjun...	ORPHA:99826
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-...	ORPHA:64753
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Ataxia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoathetosis, Card...	ORPHA:27
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppa...	ORPHA:14
Ménétrier Disease	Gastrointestinal hemorrhage, Anorexia, Hypochromic microcytic anemia, Hypoalbuminemia, Hypoprotei...	ORPHA:2494
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas...	ORPHA:83461
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam...	ORPHA:276621
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula...	OMIM:144250
Hepatoportal Sclerosis	Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Thrombocytope...	ORPHA:64743
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Familial Hyperaldosteronism Type Iii	Hypokalemia, Polydipsia, Hypercalciuria	ORPHA:251274
Congenital Disorder Of Glycosylation, Type Iio	Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra...	OMIM:616828
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, Neonatal...	ORPHA:1667
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Hypertriglyceridemia, Absent circulating B cells	OMIM:620282
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Reduced bone mineral density, Hypotriglyceridemia, Corneal scarring, Increased susceptibility to ...	ORPHA:404454
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Orthostatic hypotension, Decreased circulating cortisol level, M...	ORPHA:199299
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes...	OMIM:145981
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri...	OMIM:219800
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Thrombocytopenia, Splenomegaly, Optic atrophy, Hyperammonemia, Choreoathetosis, Cardiom...	ORPHA:79312
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Hyperbilirubinemia	ORPHA:713
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hypertriglyceridemia	OMIM:614480
Aicardi-Goutieres Syndrome 9	Hypertonia, Hypoalbuminemia, Micropenis, Self-mutilation, Hemolytic anemia, Portal hypertension, ...	OMIM:619487
Hypoalphalipoproteinemia, Primary, 2	Decreased HDL cholesterol concentration, Corneal arcus, Cataract	OMIM:618463
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia, Splenomegaly...	ORPHA:822
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Proteinuria, Abnormal circulating fatty-acid concentration, Tremor...	ORPHA:263455
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Saccharopinuria	Citrullinuria, Tremor, Hypercystinemia, Hyperammonemia, Cystinuria, Spastic diplegia, Gait ataxia...	ORPHA:3124
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract, Elevated circulating creatine kinase concentration, Decreased movement range in interph...	OMIM:609115
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, H...	OMIM:616026
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit...	ORPHA:247585
Transaldolase Deficiency	Thrombocytopenia, Telangiectasia, Biventricular hypertrophy, Hepatosplenomegaly, Abnormal circula...	ORPHA:101028
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Dystonia, Thrombocytopenia, Chorea, Hemiplegia/hemiparesis, Hyperammonemia, ...	ORPHA:289916
Malignant Hyperthermia, Susceptibility To, 1	Elevated circulating creatine kinase concentration, Rigidity, Hyperkalemia, Hyperphosphatemia, My...	OMIM:145600
Glucose-Galactose Malabsorption	Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia	ORPHA:35710
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Nephrocalcinosis, D...	OMIM:611590
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal bleeding, Acute myeloid leukemia, Anemia of ...	ORPHA:86839
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting	OMIM:203400
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Budd-Chiari syndrome, Thrombocytosis...	OMIM:226300
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne...	OMIM:618892
Lymphangiectasia, Intestinal	Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Renal tubular dy...	ORPHA:69076
Hyperuricemia, Hprt-Related	Nephrolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria	OMIM:300323
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Abnormality of thrombocytes, Hypocalcemia, Reduced bone mineral density	ORPHA:172
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Absent leukocyte alkaline phosphatase	OMIM:242880
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c...	OMIM:613095
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Th...	OMIM:259720
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia, Paraparesis, Elevated circulating alkaline phosphatase concentration, Tetraparesis...	OMIM:602080
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens...	ORPHA:848
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Ocular anterior segment dysgenes...	OMIM:615145
Lujo Hemorrhagic Fever	Shock, Stiff neck, Elevated circulating C-reactive protein concentration, Excessive bleeding afte...	ORPHA:319213
Galactosemia Iv	Cataract, Hypergalactosemia	OMIM:618881
Werner Syndrome	Hypertriglyceridemia, Cataract, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mineral densi...	OMIM:277700
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, S...	OMIM:224120
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting	OMIM:610600
Immunodeficiency 43	Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi...	OMIM:241600
Nephronophthisis	Renal insufficiency, Anemia	ORPHA:655
Vernal Keratoconjunctivitis	Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal neovascularization, Punctate...	ORPHA:70476
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Vasculitis, Decreased mean platelet volume...	OMIM:617718
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me...	OMIM:185000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet functio...	ORPHA:231393
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension, Hypertriglyceridemia, Polyphagia	ORPHA:71529
Hemochromatosis, Type 4	Cataract, Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoart...	OMIM:606069
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Ab...	ORPHA:99827
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:616649
Primary Intestinal Lymphangiectasia	Pericardial effusion, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypoca...	ORPHA:90362
Helix Syndrome	Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria, Poly...	OMIM:617671
Microphthalmia With Brain And Digit Anomalies	Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma	ORPHA:139471
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Joint hypermobility	OMIM:619013
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia...	OMIM:618620
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Mietens Syndrome	Cataract, Corneal opacity, Sclerocornea, Joint stiffness, Microcornea, Elbow ankylosis	ORPHA:2557
Rh Deficiency Syndrome	Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytosis, H...	ORPHA:71275
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene...	ORPHA:53
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Dystonia, Hyperkalemia, Renal hypoplasia, Li...	OMIM:617595
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Renal insufficiency, Hyperammonemia	ORPHA:28
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Increased total bilirubin	ORPHA:2924
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:214700
Galactosemia Ii	Cataract, Hypergalactosemia	OMIM:230200
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic ...	ORPHA:416
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki...	OMIM:300908
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Renal phosphate wasting, Elevated circulating alkaline phosphatase conc...	OMIM:193100
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171420
Cholesteryl Ester Storage Disease	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Bleeding Disorder, Platelet-Type, 9	Bruising susceptibility, Thrombocytopenia	OMIM:614200
Hemorrhagic Fever-Renal Syndrome	Intracranial hemorrhage, Ecchymosis, Internal hemorrhage, Leukocytosis, Elevated circulating crea...	ORPHA:340
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Cerebral h...	OMIM:175780
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hyperammonemia, Anemi...	OMIM:246450
Galactokinase Deficiency	Cataract, Hepatosplenomegaly, Increased level of galactitol in plasma, Nuclear cataract, Hypergal...	ORPHA:79237
Alpha-Heavy Chain Disease	Splenomegaly, Hypocalcemia, Anemia	ORPHA:100025
Smith-Magenis Syndrome	Retinal detachment, Hyperactivity, Hypertriglyceridemia, Self hugging, Head-banging, Abnormal hea...	OMIM:182290
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Alaninuria, Bradycardia, Pulmonary arterial hypertension, Hyp...	OMIM:616299
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Hypertriglyceridemia	ORPHA:436182
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Elevated hepatic transaminase, Extramedullary hematopoiesis, Ab...	ORPHA:79303
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypoproteinemia, Prolonged QT interval, Tachycardia, Ventricular septal defect, Elevated circulat...	ORPHA:26793
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Nephrolithiasis, Cystinuria, Hypocalcemia, Polyphagia, Neonatal hypoglycemia	OMIM:606407
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin...	ORPHA:90038
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Medullary nephrocalcinosis, Hypercalciuria	OMIM:617993
Congenital Disorder Of Glycosylation, Type Ij	Flexion contracture, Cataract, Hypoproteinemia, Aggressive behavior	OMIM:608093
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Lower limb spasticity, Renal insufficiency, Proteinuria, Ataxia, T...	ORPHA:90321
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Neonatal hypoglycemia, Renal salt wasting, Long penis, Hyperkalemia, Elevated urina...	ORPHA:90794
Epiphyseal Chondrodysplasia, Miura Type	Abnormal circulating beta-C-terminal telopeptide concentration, Elevated alkaline phosphatase of ...	OMIM:615923
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph...	OMIM:235700
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Tremor, Nephrotic syndrome, Hypertonia, Type I diabetes mellitus, Nephropathy, Anemia	ORPHA:1192
3Q29 Microduplication Syndrome	Cataract, Ventricular septal defect, Sclerocornea, Craniosynostosis, Camptodactyly of toe, Anirid...	ORPHA:251038
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia, Hypoglycemia, Renal salt wasting	OMIM:614736
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:620138
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Polydipsia, Hypernatremia, Megacystis, Polyuria	OMIM:125800
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Proteinuria, Elevated circulating creatinine concentration, Hemiparesis, Normo...	ORPHA:247691
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Polydipsia, Hypernatremia, Megacystis, Polyuria	OMIM:304800
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia	OMIM:214900
Glutathione Synthetase Deficiency	Hemolytic anemia, Ataxia, Spastic tetraparesis, Increased level of L-pyroglutamic acid in urine, ...	OMIM:266130
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,...	ORPHA:288
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,...	OMIM:616050
Leishmaniasis	Elevated hepatic transaminase, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomega...	ORPHA:507
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple...	OMIM:266200
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Renal phosphate wasting, Hypercalcemia, Hypophosphatemia	OMIM:612089
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Cataract, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Inability to wal...	OMIM:608885
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia, Developmental cataract	ORPHA:557003
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopam...	ORPHA:29072
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,...	ORPHA:90065
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin...	ORPHA:552
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Osteoporosis, Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:614727
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Progressive cerebellar ataxia, Corneal opacity, Corneal dystrophy, Ataxia	ORPHA:3177
Al Amyloidosis	Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnormality of t...	ORPHA:85443
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Basal Ganglia Calcification, Idiopathic, 1	Urinary incontinence, Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, R...	OMIM:213600
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia, Decreased li...	ORPHA:79327
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr...	OMIM:607426
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp...	OMIM:256300
Mucoepithelial Dysplasia, Hereditary	Cataract, Eosinophilia, Cor pulmonale, Keratoconjunctivitis, Melena, Opacification of the corneal...	OMIM:158310
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia, Renal salt wasting	OMIM:264350
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:182900
Trimethylaminuria	Splenomegaly, Neutropenia, Anemia, Trimethylaminuria	OMIM:602079
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Bleeding Disorder, Platelet-Type, 19	Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men...	OMIM:616176
Dystonia 31	Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Dysphagia, Abnorm...	OMIM:619565
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Jaundice...	OMIM:229600
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia, Radioulnar synostosis	ORPHA:71289
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio...	ORPHA:94090
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hypoglycemia, Elevated circulating aspartate aminotransferase conce...	OMIM:617093
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Portal hypertension, Bone-marrow f...	OMIM:278000
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Abnormal bleeding, Abnormal circ...	ORPHA:470
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Anorexia, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Elevated circulating alkaline phosphatase concentration, Renal cyst, Increased total bilirubin	OMIM:174050
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia	OMIM:177000
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic...	ORPHA:656
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Hypercalcemia, Aggressive behavior, Tremor, Gait ataxia, Compulsive behavio...	ORPHA:476126
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hypertriglyceridemia, Increased circulating ferritin concentration...	ORPHA:540
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca	ORPHA:1806
Morgagni-Stewart-Morel Syndrome	Osteoarthritis, Osteoporosis, Hypertension, Hyperostosis frontalis interna, Hyperuricemia, Hyperc...	ORPHA:77296
Cog4-Cdg	Hypercholesterolemia, Ataxia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Splenomegaly, Opti...	OMIM:259700
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Congestive heart failure, Leukocytosis, Dilat...	OMIM:615895
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My...	OMIM:612736
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Elevated circulating creatine kinase concentration, Tremor, Limb fasciculations, Abnormality of t...	ORPHA:90117
Infantile Myofibromatosis	Hemiplegia/hemiparesis, Hypercalcemia, Abnormality of the kidney	ORPHA:2591
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin...	OMIM:208920
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Renal sodium wasting, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hyp...	ORPHA:99880
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Increased total...	ORPHA:90037
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin...	ORPHA:98855
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Immunodeficiency 27A	Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia...	OMIM:209950
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Hypomethioninemia, Normocytic anemia, Decreased methionine synthase activ...	OMIM:236270
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Clonus, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behaviors,...	ORPHA:534
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Renal sodium wasting, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Elevated circulating creatine kinase concentration, Aggressive behavior, Elevated circulating alk...	OMIM:616809
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Ataxia, Babinski sign, Hypercalciuria, Renal cyst, Nephrocalcinos...	OMIM:615398
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Thrombocytopenia, Spleno...	ORPHA:464329
Parathyroid Carcinoma	Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hyp...	ORPHA:143
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia, Reduc...	OMIM:612126
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia	ORPHA:46532
Tangier Disease	Hypertriglyceridemia, Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia,...	ORPHA:31150
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu...	OMIM:614300
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypoglycemia, Thrombocytopenia, Hy...	OMIM:617053
Avian Influenza	Elevated hepatic transaminase, Lymphopenia, Elevated circulating creatine kinase concentration, E...	ORPHA:454836
Triokinase And Fmn Cyclase Deficiency Syndrome	Broad-based gait, Cataract, Reduced systolic function, Microcytic anemia, Dilated cardiomyopathy,...	OMIM:618805
Arima Syndrome	Proteinuria, Polyuria, Ataxia, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary ...	OMIM:243910
Autoimmune Hypoparathyroidism	Prolonged QT interval, Increased bone mineral density, Cataract, Ventricular arrhythmia, Abnormal...	ORPHA:36913
Winchester Syndrome	Osteolysis involving tarsal bones, Corneal opacity, Generalized osteoporosis, Carpal osteolysis	OMIM:277950
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Vitreou...	OMIM:312700
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Hypoproteinemia	OMIM:221400
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Anemia, Decreased urinary potassium	OMIM:611489
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Hereditary Coproporphyria	Hyponatremia, Dark urine, Abnormal circulating porphyrin concentration, Porphyrinuria, Increased ...	ORPHA:79273
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Steppage gait, Increased total iron binding capacity, Unconjugated hyperbiliru...	OMIM:613280
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Hypertension, Flexion contracture, Elevated circulating creatinine ...	OMIM:616733
Oculoauricular Syndrome	Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste...	OMIM:612109
Pseudo-Torch Syndrome 3	Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Hy...	OMIM:618886
Stromme Syndrome	Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Ir...	OMIM:243605
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Anemia, Perimembranous ventricular septal defect, ...	OMIM:608104
Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin...	ORPHA:98853
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ataxia, Polyuria, Proximal tubulopathy, Myoclonus, Type I diabetes mellitus	OMIM:560000
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Hypocalcemia, Atrial septal defect, Multiple suture craniosynostosis, J...	ORPHA:567
Bernard-Soulier Syndrome	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Impaired rist...	OMIM:231200
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration	OMIM:603233
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Glomerulopathy, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Hy...	ORPHA:2169
Renal Cysts And Diabetes Syndrome	Renal cyst, Glucose intolerance, Hypospadias, Abnormality of the kidney, Abnormality of alkaline ...	OMIM:137920
Acquired Idiopathic Sideroblastic Anemia	Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate ...	ORPHA:75564
Lysosomal Acid Lipase Deficiency	Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Ataxia, Cardiomyopathy, Abnormal granulocyte morphology, Abnormal circulati...	ORPHA:98907
Coach Syndrome 2	Hypertension, Elevated circulating creatinine concentration, Coloboma, Chorioretinal coloboma	OMIM:619111
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Spastic ataxia, Hyperglutamatemia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, Dy...	OMIM:620358
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem...	ORPHA:86816
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Increased circulating lactate dehydrogenase concentration, Proteinuria, Elevate...	OMIM:614034
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Thrombocytopenia	OMIM:166990
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Corneal opacity, Recurrent fractures, Sclerocornea, ...	OMIM:609465
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Cataract, Elevated circulating creatine kinase c...	OMIM:615184
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Abnormal pyramidal sign, Renal tubular dys...	ORPHA:213
Preeclampsia/Eclampsia 1	Hypertension, Thrombocytopenia	OMIM:189800
X-Linked Emery-Dreifuss Muscular Dystrophy	Waddling gait, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kin...	ORPHA:98863
Xeroderma Pigmentosum, Complementation Group D	Cataract, Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sicca, Conjunc...	OMIM:278730
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia,...	ORPHA:2298
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Epistaxis, Conjugated hyperbilirubinemia, Splenomegaly, Rickets	OMIM:211600
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Myocardial inf...	OMIM:155100
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:613011
Cystathioninuria	Cystathioninemia, Cystathioninuria, Tremor, Nephrolithiasis	ORPHA:212
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Ventricular septal defect, Ataxia, Situs inversus totalis, Thiamine-respons...	OMIM:249270
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration...	OMIM:251880
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hyperna...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hyperna...	ORPHA:529799
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Orthostatic Hypotension 1	Hypomagnesemia, Neonatal hypoglycemia, Nocturia, Increased blood urea nitrogen	OMIM:223360
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Ataxia, Urolithiasis, Hyperuricosuria, Hyperuricemia, Uric acid...	OMIM:300661
Propionic Acidemia	Pancytopenia, Thrombocytopenia, Cerebellar hemorrhage, Osteoporosis, Hyperglycinuria, Hyperammone...	OMIM:606054
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Low alkaline phosphatase, Nephro...	ORPHA:369837
Coach Syndrome 3	Renal insufficiency, Ataxia, Oculomotor apraxia, Stage 5 chronic kidney disease, Renal interstiti...	OMIM:619113
Palmoplantar Carcinoma, Multiple Self-Healing	Limbal stem cell deficiency, Corneal neovascularization, Finger joint hypermobility	OMIM:615225
Thrombocytopenia 5	Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula...	OMIM:616216
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxyli...	OMIM:613070
Pheochromocytoma	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Developmental cataract...	OMIM:171300
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Iridodonesis, Ataxia, Hypoplasia of the iris, Joint hyperflexibility, Astigmatism, Hy...	ORPHA:2479
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Microcor...	OMIM:221900
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Corneal arcus, Xanthelasma	OMIM:603776
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Ketotic hypoglycemia, Anorexia, Renal salt wast...	ORPHA:361
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Papilledema, Developmental cataract, ...	OMIM:127000
Snakebite Envenomation	Hyponatremia, Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock...	ORPHA:449285
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia	OMIM:620357
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Rodrigues Blindness	Microcornea, Sclerocornea	OMIM:268320
Galactosemia I	Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, Elevated circula...	OMIM:230400
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614376
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Decreased serum creatinine, Atrial septal defect, Hypohomocysteinemia, Hyp...	OMIM:617744
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase	OMIM:162830
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi...	OMIM:617994
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Splenomegaly, Flexion contracture, Anemia, Arthritis, Conjunctivitis, Lymph...	OMIM:617591
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Cataract, Gait disturbance, Elevated circulating creatine kinase concentration, Tip-toe gait	OMIM:617404
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect, Iris coloboma, Sclerocornea	ORPHA:77298
Familial Hypoaldosteronism	Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul...	ORPHA:427
Retinopathy Of Prematurity	Vitreous hemorrhage, Tractional retinal detachment	ORPHA:90050
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Pancytopenia, Elevated circulating creatine kinase concentration, ...	OMIM:614576
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration...	OMIM:613153
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Overlap Myositis	Elevated circulating creatine kinase concentration, Raynaud phenomenon, Abnormal heart morphology...	ORPHA:206572
Beta-Ketothiolase Deficiency	Ketonuria, Ataxia, Hypoglycemia, Anorexia, Leukocytosis, Hyperammonemia, Hyperglycemia, Agitation...	ORPHA:134
Aceruloplasminemia	Torticollis, Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin conc...	OMIM:604290
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Thrombocytopenia, Splenomegaly, Neutropenia, Anemia, Nephrotic syndrome, Focal segme...	OMIM:617303
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Cataract, Thrombocytopenia, Iris hypopigmentation	ORPHA:67048
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Refractory Anemia	Abnormal bleeding, Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, A...	ORPHA:98826
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Iris hypopigmentation	ORPHA:284160
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Hepatic Veno-Occlusive Disease	Increased total bilirubin	ORPHA:890
Aniridia 1	Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,...	OMIM:106210
Atelis Syndrome 1	Cataract, Ventricular septal defect, Anemia, Leukopenia, Attention deficit hyperactivity disorder...	OMIM:620184
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Ataxia, Gait ataxia, Hypertension	ORPHA:363400
Lathosterolosis	Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoik...	OMIM:607330
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis, Elevated circulating alk...	OMIM:613312
Maternally-Inherited Diabetes And Deafness	Cataract, Ataxia, Congestive heart failure, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy...	ORPHA:225
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated hepatic transaminase, Hypogl...	OMIM:608836
Lipase Deficiency, Combined	Hypertriglyceridemia	OMIM:246650
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Dicarboxylic aciduria, Cyanosis, Elevated circulating acylcarnitin...	ORPHA:159
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Chvostek sign, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Incoordination, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glo...	OMIM:223900
Plin1-Related Familial Partial Lipodystrophy	Hypertension, Hypertriglyceridemia	ORPHA:280356
Acute Myelomonocytic Leukemia	Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia	ORPHA:517
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena...	OMIM:618183
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Hypocalcemia, Hypophosphatemia	OMIM:619073
Sengers Syndrome	Osteopenia, Cataract, Cardiac arrest, Sudden cardiac death, Developmental cataract, Pulmonary art...	OMIM:212350
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Cardiomyopathy, Cataract, Elevated circulating creatine kinase concentration	OMIM:615352
Acquired Purpura Fulminans	Shock, Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Prolonged ...	ORPHA:49566
Gorlin-Chaudhry-Moss Syndrome	Coronal craniosynostosis, Astigmatism, Sclerocornea	ORPHA:2095
Bardet-Biedl Syndrome 17	Polydipsia, Polyuria, Poor coordination, Stage 5 chronic kidney disease, Renal cyst, Micropenis	OMIM:615994
Ataxia-Pancytopenia Syndrome	Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni...	OMIM:159550
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Osteomyelitis, Anemia, Arthritis, Conjunctivitis, Hypocalc...	ORPHA:47
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Abnormal bleeding, Ventricular septal defect, Conjugated hyperbilirubinemia, Aminoaciduria, Atria...	OMIM:208085
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Aggressive behavior, Blue irides, Compul...	OMIM:261600
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Methemoglobinemia, Beta Type	Cyanosis, Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis, Methemoglobinemia	OMIM:617973
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Vacuolated lymphocytes, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular ...	OMIM:204200
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin...	OMIM:226990
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Cataract, Sclerocornea, Junctional ectopic tachycard...	OMIM:309801
Johanson-Blizzard Syndrome	Abnormal cardiac septum morphology, Hypoproteinemia, Dextrocardia, Anemia	ORPHA:2315
Fibrous Dysplasia Of Bone	Thin bony cortex, Antalgic gait, Hypercalcemia, Osteomalacia, Fibrous dysplasia of the bones, Ric...	ORPHA:249
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Hypertension, Increased mean corpuscular volume, Stomatocytosis, E...	ORPHA:90044
Alpha-Thalassemia-Myelodysplastic Syndrome	Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept...	ORPHA:231401
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Hypercalcemia	ORPHA:97289
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ...	ORPHA:231222
Distal Xq28 Microduplication Syndrome	Epistaxis, Impulsivity, Aggressive behavior, Self-biting, Stereotypical body rocking, Tip-toe gai...	ORPHA:293939
Mucolipidosis Type Iii	Craniofacial hyperostosis, Abnormal heart valve morphology, Corneal opacity, Joint stiffness, Red...	ORPHA:577
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Angina pectoris, Corneal opacity	ORPHA:79292
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Xanthelasma	OMIM:144010
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Sclerocornea, Limbal dermoid, Hypoplasia of the iris, Subvalvular aort...	OMIM:613001
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Anuria, Diabetes mellitus, Leukocytosis, Hyperkalemia, Oliguria, ...	ORPHA:544482
Exudative Vitreoretinopathy 4	Osteopenia, Vitreous hemorrhage, Subcapsular cataract, Tractional retinal detachment	OMIM:601813
Congenital Enterovirus Infection	Abnormal bleeding, Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosi...	ORPHA:292
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Ventricular septal defect, Corneal opacity, Spleno...	ORPHA:290
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy, Cataract, Sclerocornea, Camptodactyly	OMIM:614230
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Elevated creatine kinase after exercise, Hypercapnia, Hyperkalemia, Hyperp...	ORPHA:423
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Tremor, Paralysis,...	ORPHA:79102
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Tr...	OMIM:251100
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Anorexia, Megaloblastic anemia, Congestive heart failu...	ORPHA:49827
Lipodystrophy, Familial Partial, Type 4	Hypertension, Hypertriglyceridemia	OMIM:613877
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis...	ORPHA:75563
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia	OMIM:617243
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterolemia	OMIM:607765
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Anorexia, Leukocytosis, Oliguria, Lymphocytosis, Hypochromic anemia, In...	ORPHA:514
Glycogen Storage Disease Xii	Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Normochromic...	OMIM:611881
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Cerebellar hemorrhage, Hyperammonemia, Cardiomyopathy, Leukopenia, Hyperg...	OMIM:251000
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Adenine Phosphoribosyltransferase Deficiency	Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra...	ORPHA:976
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Decreased methionine synthase act...	OMIM:277400
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi...	OMIM:314050
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Osteomyelitis, Elevated circulating creatine kinase concentration, Abscess, M...	ORPHA:36234
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Cataract, Ataxia, Conjugated hyperbilirubinemia, Hepatosplenomegaly...	ORPHA:168577
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Rh-Null, Regulator Type	Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia	OMIM:268150
Congenital Erythropoietic Porphyria	Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Osteopenia, Anisocytosis, Abnormal circulat...	ORPHA:79277
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya...	OMIM:609049
Mu-Heavy Chain Disease	Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Anemia	ORPHA:100024
Ethylene Glycol Poisoning	Renal insufficiency, Cyanosis, Ataxia, Hyperkalemia, Slurred speech, Renal tubular epithelial nec...	ORPHA:31826
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninuria, Eye poking, ...	OMIM:204000
Smith-Magenis Syndrome	Retinal detachment, Hypertriglyceridemia, Joint stiffness, Microcornea, Self-injurious behavior, ...	ORPHA:819
Aapoaiv Amyloidosis	Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep...	ORPHA:439232
Idiopathic Congenital Hypothyroidism	Delayed proximal femoral epiphyseal ossification, Bradycardia, Neonatal hyperbilirubinemia	ORPHA:95717
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenome...	ORPHA:37042
Mevalonic Aciduria	Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Ataxia, Elevated circulating creatine...	OMIM:610377
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en...	ORPHA:264580
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Leprechaunism	Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria, Nephrocalcinosis, Hypokalemia, ...	ORPHA:508
Neuhauser Syndrome	Osteopenia, Iridodonesis, Ataxia, Hypoplasia of the iris, Dysphagia, Hypercholesterolemia, Megalo...	OMIM:249310
Smith-Lemli-Opitz Syndrome	Cataract, Ventricular septal defect, Sclerocornea, Optic atrophy, Self-injurious behavior, Elevat...	ORPHA:818
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae	OMIM:615877
Stormorken Syndrome	Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Elevated circulating creatine kinase concentra...	OMIM:185070
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Renal tubular dysfunction, Renal phosphate wasting, E...	OMIM:307800
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Glucose intolerance, Tubulo...	ORPHA:358
Gray Platelet Syndrome	Abnormal bleeding, Epistaxis, Abnormality of thrombocytes, Splenomegaly, Bruising susceptibility,...	ORPHA:721
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Bone cyst, Hypercholesterolemia, Hypertrophic car...	ORPHA:528
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Goodpasture Syndrome	Renal insufficiency, Cyanosis, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuri...	OMIM:233450
Forsythe-Wakeling Syndrome	Osteoporosis, Thrombocytopenia	OMIM:613606
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Elevated circulating acylcarnitine concentration, Congestive heart failure,...	ORPHA:99901
Holocarboxylase Synthetase Deficiency	Ataxia, Anorexia, Hyperammonemia, Keratoconjunctivitis, Thrombocytopenia	ORPHA:79242
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Urocanic Aciduria	Ataxia, Urocanic aciduria, Abnormal circulating histidine concentration, Gait ataxia, Truncal ata...	ORPHA:210128
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, Joint hypermobility	ORPHA:254531
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Cataract, Rhegmatogenous retinal detachment, Reduced bone mineral density...	ORPHA:891
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so...	ORPHA:320
Monosomy 13Q34	Epistaxis, Hypercalcemia, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, Common atrium	ORPHA:96168
Lipodystrophy, Familial Partial, Type 1	Hypertension, Hypertriglyceridemia	OMIM:608600
Fetal Parvovirus Syndrome	Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia	ORPHA:295
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardi...	OMIM:300952
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Thrombocytopenia, Dysmetria, Supravalvar pulmonary steno...	OMIM:620185
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Optic disc pallor, Petechiae, Recurrent fracture...	OMIM:611490
Teratoma, Pineal	Hemiparesis, Polydipsia, Polyuria	OMIM:273120
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Gout, Increased L...	ORPHA:412
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Babinski sign, Spastic paraplegia, Elevated circulating alkaline phosphatase concentration, Limb ...	ORPHA:329475
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia, Decreased skull ossification, Calvarial osteosclerosis, Anemia	OMIM:244460
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia, Rickets	OMIM:619232
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Ataxia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Phosphoglycerate Dehydrogenase Deficiency	Developmental cataract, Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Portal hypertension, Increased circulating ferritin concentration, Myocardial fibrosis, Hepatospl...	ORPHA:210136
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:2070
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Fasciculations, Tongue fasciculations...	ORPHA:276435
Bleeding Disorder, Platelet-Type, 16	Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi...	OMIM:187800
Digeorge Syndrome	Posterior embryotoxon, Ventricular septal defect, Sclerocornea, Thrombocytopenia, Splenomegaly, H...	OMIM:188400
Ataxia With Vitamin E Deficiency	Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr...	OMIM:277460
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:618528
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Proteinuria, Ataxia, Tremor, Renal cyst, Dysmetria, Nephrotic synd...	OMIM:212065
Chylomicron Retention Disease	Acanthocytosis, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Flexion contracture, Joint hypermobility	OMIM:616222
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, 3-Methylglutaconic aciduria, Hypoalbuminemia, Elevat...	OMIM:618329
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Hyperammonemia, Argininosuccinic aciduria, Hyperargininemia, Elevated plasm...	OMIM:603471
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Hyperglycem...	ORPHA:329249
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia, Polyphagia	OMIM:617885
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hypoxemia, Hyperbil...	ORPHA:542323
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Rigidity, Choreoathetosis, Abnormal urina...	ORPHA:391417
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Renal tubu...	ORPHA:436271
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Mitral val...	OMIM:612561
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu...	OMIM:604278
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Pearson Syndrome	Renal cyst, Hypocalcemia, Neutropenia, Reticulocytosis, Ataxia, Hypokalemia, Hypomagnesemia, Glyc...	ORPHA:699
Alpha-Methylacyl-Coa Racemase Deficiency	Cataract, Ataxia, Elevated circulating phytanic acid concentration, Pigmentary retinopathy, Incre...	OMIM:614307
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Polyphagia, Orthostati...	ORPHA:66628
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postp...	ORPHA:2089
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Papilledema, Ventricular septal defect, Elevated circulating creati...	OMIM:618775
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Dystonia, Urinary incontinence, Parkinsonism, Chorea, Babinski sign, Titubation, ...	ORPHA:225147
Vitreoretinochoroidopathy	Retinal detachment, Pulverulent cataract, Developmental cataract, Microcornea, Vitreous hemorrhag...	OMIM:193220
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Neonata...	ORPHA:116
Congenital Disorder Of Glycosylation, Type Ib	Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Hyperinsulinemic hypoglycemia, Hepatic failure	OMIM:602579
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Urinary incontinence, Clonus, Tremor, Spastic paraplegia, Babinski sign, U...	OMIM:600363
Familial Expansile Osteolysis	Hydroxyprolinuria, Elevated circulating alkaline phosphatase concentration	OMIM:174810
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Elevated hepatic ...	ORPHA:48818
Liddle Syndrome	Nephropathy, Renal insufficiency, Hypokalemia	ORPHA:526
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Hyperbilirubinemia, Steatorrhea	OMIM:235555
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Leukocytosis, Abnormal blood ion concentration, Oliguria, Hypo...	ORPHA:31824
Porphyria Variegata	Hyponatremia, Elevated hepatic transaminase, Neurogenic bladder, Abnormal circulating enzyme conc...	ORPHA:79473
Obesity Due To Leptin Receptor Gene Deficiency	Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Polyphagia, Orthostati...	ORPHA:179494
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Osteopenia, Cataract, Splenomegaly, Inability to walk, Optic atrophy, H...	OMIM:617913
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Hyperlipidemia, Joint h...	ORPHA:35909
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal bleeding, Decreased HDL cholesterol concentration, Osteopenia, Hypertriglyceridemia, Abn...	ORPHA:77293
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Myelofibrosis, Increased...	OMIM:187900
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating creatine kinase concentration, Elevated circulating alkaline phosphatase con...	ORPHA:52430
Kid Syndrome	Recurrent cutaneous abscess formation, Keratitis, Corneal erosion, Delayed pubic bone ossificatio...	ORPHA:477
Alstrom Syndrome	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Congestive heart failure, Dilated ...	OMIM:203800
Caroli Syndrome	Abnormal bleeding, Liver abscess, Portal hypertension, Conjugated hyperbilirubinemia, Hematemesis...	ORPHA:480520
Oncogenic Osteomalacia	Hyperphosphaturia, Renal phosphate wasting, Elevated circulating alkaline phosphatase concentrati...	ORPHA:352540
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Lower limb spasticity, Hypoplasia of penis, Ataxia, Repetitive com...	ORPHA:66634
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating...	ORPHA:79126
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Hypocapnia, Hyperkalemia, Oliguria, H...	ORPHA:466650
Folate Malabsorption, Hereditary	Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia	OMIM:229050
Microphthalmia, Syndromic 3	Vertebral fusion, Optic nerve aplasia, Cataract, Ventricular septal defect, Optic nerve hypoplasi...	OMIM:206900
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Hypercalciuria, Nephrocalcinosis, Elliptocytosis, Renal dysplasia, Anemia	OMIM:300990
Sarcoidosis	Hemolytic anemia, Renal insufficiency, Hypercalcemia, Eosinophilia, Portal hypertension, Thromboc...	ORPHA:797
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Iron deficiency anemia, Astigmatism, Decreased serum cre...	OMIM:618885
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoglycemia, Elevated circulating creatine kinase concentration, Clonus, Spastic tetraplegia, Am...	OMIM:619055
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Splenomegaly, Increased circulating ferritin concentration, Elevat...	OMIM:613313
Galactosialidosis	Corneal opacity	ORPHA:351
Yellow Fever	Abnormal bleeding, Shock, Neutrophilia, Elevated circulating creatine kinase concentration, Supra...	ORPHA:99829
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Anorexia, Atrioventricular b...	ORPHA:324
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Vitreous hemorrhage, Zonular catara...	ORPHA:39044
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal cardiac septum morphology, Corneal opacity, Reduced bone mineral density	ORPHA:2370
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi...	OMIM:606995
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Co...	OMIM:617156
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hand tremor, Periodic paralysis	OMIM:609153
Cyanosis, Transient Neonatal	Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Alg8-Cdg	Hyponatremia, Cataract, Ataxia, Optic atrophy, Anemia, Camptodactyly, Thrombocytopenia	ORPHA:79325
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia, Petechiae, Iris hypopi...	ORPHA:79477
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Spastic tetraplegia, Hypochromic microcytic anemia...	OMIM:619147
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Lipodystrophy, Familial Partial, Type 5	Hypertension, Hypertriglyceridemia, Increased C-peptide level	OMIM:615238
Retinal Capillary Malformation	Vitreous hemorrhage, Hyphema	ORPHA:71213
Hyperkalemic Periodic Paralysis	Hyponatremia, Periodic hyperkalemic paralysis, Cerebral palsy, Elevated circulating creatine kina...	ORPHA:682
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Osteopenia, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevat...	OMIM:613327
Platelet Signal Processing Defect	Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce...	OMIM:173590
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Familial Isolated Hypoparathyroidism	Arrhythmia, Cataract, Hypocalcemia	ORPHA:2238
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d...	OMIM:137560
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Splenomegaly, Hypertension, Hyperuricemia, Hypert...	ORPHA:79083
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypertension, Hyperuricemia	OMIM:604367
Cranioectodermal Dysplasia 1	Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti...	OMIM:218330
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal bleeding, Osteopenia, Hypertriglyceridemia, Epistaxis, Chronic neutropenia, Hyperlipidem...	ORPHA:79259
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Osteoporo...	ORPHA:79240
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy...	OMIM:606176
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Pancytopenia, Ketonuria, Thrombocytopenia, Methylmalonic aciduria, Hypera...	OMIM:251110
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Anorexia, Hypersplenism, Thromboc...	ORPHA:98850
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Hypoadrenocorticism, Familial	Hyponatremia, Cyanosis, Hyperkalemia, Hypoglycemia	OMIM:240200
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Anemia	ORPHA:375
H Syndrome	Hypertriglyceridemia, Recurrent fractures, Microcytic anemia, Abnormal cardiovascular system phys...	ORPHA:168569
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14	Inability to walk, Cataract, Ataxia, Elevated circulating creatine kinase concentration	OMIM:615350
Myh9-Related Disease	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Myocardial infarction, Increased mean ...	ORPHA:182050
Babesiosis	Hemolytic anemia, Myocardial infarction, Anorexia, Congestive heart failure, Splenomegaly, Limita...	ORPHA:108
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Nephr...	ORPHA:653
Atypical Pantothenate Kinase-Associated Neurodegeneration	Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas...	ORPHA:216873
Griscelli Syndrome	Ataxia, Abnormality of neutrophils, Splenomegaly, Leukopenia, Abnormal circulating lipid concentr...	ORPHA:381
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven...	OMIM:601005
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperextensibility of the finger joints, Ventricular septal defect, Thrombocytopenia, Heart murmu...	ORPHA:163979
Cholera	Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Abnormal blood ion concentration, Hyp...	ORPHA:173
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Eyelid myoclonus, Increased mean corpuscula...	OMIM:613839
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Pseudohypoparathyroidism, Type Ic	Cataract, Osteoporosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany	OMIM:612462
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia,...	ORPHA:521406
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration, Corneal crystals	OMIM:219750
Malignant Hyperthermia, Susceptibility To, 3	Hypertonia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure...	OMIM:154230
Alg6-Cdg	Abnormal circulating enzyme concentration or activity, Ataxia, Jaundice, Decreased LDL cholestero...	ORPHA:79320
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hypospadias, Neonatal hypoglycemia, Renal salt wasting, Hyperkalemia, Increased cir...	ORPHA:90791
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Low neutrophil al...	OMIM:245480
Familial Thyroid Dyshormonogenesis	Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Neona...	ORPHA:95716
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Griscelli Syndrome Type 1	Hyperlipidemia, Ataxia, Iris hypopigmentation	ORPHA:79476
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hyperbilirubinemia, Atrial septal defect, Elevated circulating long chain fatty acid concentratio...	OMIM:614886
Wolf-Hirschhorn Syndrome	Abnormal heart valve morphology, Ataxia, Sclerocornea, Osteoporosis, Optic atrophy, Abnormal card...	ORPHA:280
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Autoimmune hemolytic anemia, Hypouricemia, Increased circulat...	OMIM:613179
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Joint contracture, Hypertriglyceridemia, Telangiectasia of the skin, Osteoporosis	OMIM:615381
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Hyperphenylalaninemia, Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dysphagia	OMIM:261630
Sepsis In Premature Infants	Cyanosis, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosis, ...	ORPHA:90051
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia	OMIM:612287
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Renal tubular acidosis, Dysp...	OMIM:616457
Seckel Syndrome 10	Ventricular hypertrophy, Retinal detachment, Hypertriglyceridemia, Elevated hemoglobin A1c, Conge...	OMIM:617253
Glutathionuria	Urinary incontinence, Tremor, Reduced gamma-glutamyltransferase level, Dysdiadochokinesis, Glutat...	OMIM:231950
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Cystic Echinococcosis	Eosinophilia, Abscess, Bone cyst, Abnormal heart morphology, Hyperbilirubinemia, Splenic cyst, Pe...	ORPHA:400
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnorma...	ORPHA:42775
Graft Versus Host Disease	Tachycardia, Dupuytren contracture, Limited elbow movement, Limited shoulder movement, Hepatosple...	ORPHA:39812
Pseudohypoparathyroidism Type 1B	Calcinosis, Prolonged QT interval, Increased bone mineral density, Cataract, Diaphyseal sclerosis...	ORPHA:94089
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Splenomegaly, Ventricular septal defect, Hypocalcemia	OMIM:235255
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Cataract, Conjugated hy...	OMIM:614866
Hypokalemic Tubulopathy And Deafness	Increased circulating renin level, Renal salt wasting	OMIM:619406
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto...	OMIM:619644
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hyperactivity, Osteoporosis, Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder	ORPHA:73272
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem...	OMIM:600081
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Loss of ambulation, Thrombocytopenia	OMIM:615010
Vipoma	Diabetes mellitus, Hypercalcemia, Anorexia, Intrahepatic cholestasis, Intermittent jaundice, Hypo...	ORPHA:97282
Spinocerebellar Ataxia 48	Dystonia, Ataxia, Urinary incontinence, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, G...	OMIM:618093
Hemochromatosis, Type 3	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Bleeding Disorder, Platelet-Type, 20	Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia	OMIM:613554
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb...	OMIM:124900
Autosomal Recessive Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os...	ORPHA:93324
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati...	OMIM:301080
Spastic Paraplegia 5A, Autosomal Recessive	Cataract, Optic atrophy, Abnormal circulating cholesterol concentration, Limb dysmetria, Spastic ...	OMIM:270800
Laron Syndrome	Hypercholesterolemia, Osteoarthritis	ORPHA:633
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Bile Acid Synthesis Defect, Congenital, 4	Decreased serum bile acid concentration, Prolonged prothrombin time, Hematochezia, Hyperbilirubin...	OMIM:214950
Wolfram Syndrome 1	Sideroblastic anemia, Cataract, Ataxia, Megaloblastic anemia, Optic atrophy, Cardiomyopathy, Pigm...	OMIM:222300
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Ataxia, Truncal ataxia, Renal tubular dysfunction, Aminoaciduria,...	OMIM:220110
Cholestasis, Progressive Familial Intrahepatic, 8	Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbiliru...	OMIM:619662
Glycogen Storage Disease Iii	Ventricular hypertrophy, Cardiomyopathy, Hyperlipidemia, Elevated circulating creatine kinase con...	OMIM:232400
Acute Promyelocytic Leukemia	Abnormal bleeding, Pancytopenia, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Thrombocytopen...	ORPHA:520
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomegaly, Leukocyto...	OMIM:618278
Exudative Vitreoretinopathy 1	Retinal detachment, Recurrent fractures, Vitreous hemorrhage, Retinal neovascularization, Subcaps...	OMIM:133780
Gracile Bone Dysplasia	Asplenia, Hypocalcemia, Aniridia, Hypoplastic spleen, Decreased skull ossification	OMIM:602361
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Subcutaneous hemorrhage, Ataxia, Macrothrombocytopenia, Aminoaciduria, Neut...	OMIM:603585
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Ataxia, Osteoporosis, Rickets, Iron deficiency anemia, Prolonged prothrombin t...	OMIM:212750
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Hyperammonemia, Hy...	OMIM:615453
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension, H...	ORPHA:401923
Genetic Hyperferritinemia Without Iron Overload	Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat...	ORPHA:254704
Bile Acid Synthesis Defect, Congenital, 3	Splenomegaly, Hematochezia, Prolonged prothrombin time, Hyperbilirubinemia, Steatorrhea	OMIM:613812
Vexas Syndrome	Macrocytic anemia, Elevated circulating C-reactive protein concentration, Arthritis, Arteritis, T...	OMIM:301054
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Dysphagia, Camptodactyly, Pulmonary arterial hypertension, Thrombocytop...	OMIM:619751
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Gait disturbance, Hypocalcemia, Hypopho...	ORPHA:93160
Primary Myelofibrosis	Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertensio...	ORPHA:824
Cinca Syndrome	Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H...	OMIM:607115
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventricular septal defect, Elevated circulating creatine kinase concentration, Corneal opacity, C...	OMIM:301056
Phacoanaphylactic Uveitis	Hypopyon, Keratitis, Abnormal pupil morphology, Hyphema, Abnormal corneal endothelium morphology,...	ORPHA:209959
Bachmann-Bupp Syndrome	Attention deficit hyperactivity disorder, Hyperbilirubinemia, Aggressive behavior	OMIM:619075
Somatostatinoma	Gastrointestinal hemorrhage, Hypercalcemia, Anorexia, Hypochromic microcytic anemia, Increased ci...	ORPHA:97283
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Anemia, Congenital Dyserythropoietic, Type Iiia	Hemosiderinuria, Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemi...	OMIM:105600
Meckel Syndrome	Accessory spleen, Cataract, Sclerocornea, Situs inversus totalis, Asplenia, Optic atrophy, Microc...	ORPHA:564
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope...	OMIM:618849
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi...	OMIM:619743
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio...	OMIM:615812
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Tetraplegia, Hand tremor, Fasciculations, Hyperglycemia, Mildly elevated creatine...	OMIM:604484
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia, Myoglobinur...	OMIM:255125
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Joint laxity, Hyperactivity, Ventricular septal defect, Eleva...	OMIM:615673
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Glucagonoma	Gastrointestinal hemorrhage, Hypercalcemia, Anorexia, Acanthocytosis, Increased circulating corti...	ORPHA:97280
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Cysta...	OMIM:277380
Transient Neonatal Diabetes Mellitus	Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Corneal opacity, Inability to walk, Hypertension, Osteolysis involving tarsal bones, ...	OMIM:166300
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Dilated cardiomyopathy, Flexion contracture, Developmental cataract, Bradycardia...	OMIM:618815
Familial Partial Lipodystrophy, Dunnigan Type	Splenomegaly, Congestive heart failure, Hypertrophic cardiomyopathy, Hypertriglyceridemia	ORPHA:2348
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Bleeding Disorder, Platelet-Type, 24	Abnormal bleeding, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregati...	OMIM:619271
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Elevated circulating alkaline phosphatase concentration, Hypocalcemia,...	OMIM:264700
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Tricuspid regurgitation, Corneal opacity, Sclerocornea, Dila...	ORPHA:2556
Prune1-Related Neurological Syndrome	Cataract, Elevated circulating creatine kinase concentration, Inability to walk, Optic atrophy, H...	ORPHA:544469
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly, Anemia, Ne...	ORPHA:505248
Fumarase Deficiency	Conjunctival icterus, Optic atrophy, Aminoaciduria, Perimembranous ventricular septal defect, Hyp...	OMIM:606812
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Tremor, Methylmalonic aciduria, Dysmetria, Hypersegmentation of neutrophil nuclei	OMIM:615578
Liver Disease, Severe Congenital	Cardiomegaly, Abnormal left ventricular function, Leukopenia, Aminoaciduria, Hypocalcemia, Lympho...	OMIM:619991
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Tyrosinemia, Type I	Hypertyrosinemia, Acute hepatic failure, Renal insufficiency, Elevated hepatic transaminase, Hypo...	OMIM:276700
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ...	OMIM:241150
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Elevated circ...	ORPHA:91500
Gaucher Disease Type 1	Osteopenia, Pancytopenia, Increased bone mineral density, Anorexia, Pericardial effusion, Hypersp...	ORPHA:77259
Osteopetrosis With Renal Tubular Acidosis	Abnormal circulating enzyme concentration or activity, Pancytopenia, Elevated circulating creatin...	ORPHA:2785
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Pyruvate Carboxylase Deficiency	Anorexia, Tremor, Abnormal pyramidal sign, Compulsive behaviors, Hyperglycemia, Hypoglutaminemia,...	ORPHA:3008
Huntington Disease-Like 1	Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait atax...	ORPHA:157941
Imerslund-Grasbeck Syndrome 2	Proteinuria, Megaloblastic anemia	OMIM:618882
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Slc35A1-Cdg	Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia...	ORPHA:238459
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Wilson Disease	Aggressive behavior, Splenomegaly, Hypersexuality, Anemia, Kayser-Fleischer ring, Arthritis, Diff...	ORPHA:905
Myopathy, Myofibrillar, 2	Hypertrophic cardiomyopathy, Cataract, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:608810
Sialidosis Type 2	Corneal opacity, Ataxia, Splenomegaly, Flexion contracture, Osteoporosis	ORPHA:87876
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ventricular septal defect, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia	ORPHA:1655
Osteootohepatoenteric Syndrome	Proteinuria, Grade II vesicoureteral reflux, Hypokalemia, Increased serum bile acid concentration...	OMIM:619377
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Gómez-López-Hernández Syndrome	Corneal opacity, Ataxia	ORPHA:1532
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia, Bruising susceptibility, Bleeding requiring red cell transfusion	OMIM:619484
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level	ORPHA:95715
Lysinuric Protein Intolerance	Hypolysinemia, Recurrent fractures, Increased circulating ferritin concentration, Thrombocytopeni...	OMIM:222700
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran...	ORPHA:40923
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Osteopenia, Pancytopenia, Cataract, Corneal opacity, Ataxia, Optic disc pal...	ORPHA:309288
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Polyphagia, Hyperbilirubinemia	OMIM:609734
Shigellosis	Hyponatremia, Abscess, Anorexia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Art...	ORPHA:810
Tetanus	Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine level, Tremor...	ORPHA:3299
Van Den Ende-Gupta Syndrome	Sclerocornea, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Camptodactyl...	OMIM:600920
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Renal insufficiency, Hypocalcemia	ORPHA:1563
Mucolipidosis Iii Gamma	Aortic regurgitation, Increased serum beta-hexosaminidase, Joint stiffness, Opacification of the ...	OMIM:252605
Linear Verrucous Nevus Syndrome	Cataract, Reduced bone mineral density, Abnormal cornea morphology, Hypophosphatemia, Iris coloboma	ORPHA:2611
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Prolonged prothrombin time, Elevated circulating a...	OMIM:617049
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Joint hypermobility, Thromb...	OMIM:617052
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Corneal opacity, Congestive heart failure, Hyperlipidemia, Thrombocyto...	ORPHA:1830
Lead Poisoning	Decreased HDL cholesterol concentration, Anorexia, Chronic kidney disease, Imbalanced hemoglobin ...	ORPHA:330015
Congenital Toxoplasmosis	Thrombocytopenia, Abnormality of retinal pigmentation, Anemia, Cardiomegaly	ORPHA:858
Hereditary Methemoglobinemia	Cyanosis, Spastic tetraplegia, Athetosis, Hypertonia, Limb dystonia, Spasticity, Methemoglobinemia	ORPHA:621
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla...	OMIM:620044
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Poor coordination, Hypoalbuminemia	OMIM:610965
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Decreased circulating copper concen...	OMIM:300972
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Neutrophilia, Abnormality of the kidney, Elevated circulating C-re...	ORPHA:54251
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Nonketotic hypoglycemia, Ketonuria, Ataxia, Anorexia, Spastic hemi...	ORPHA:20
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia	OMIM:608404
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Elevated circulating creatine kinase concentration, Supraventricular arrhythmia, Raynaud phenomen...	OMIM:611773
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion	ORPHA:289601
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Increased ...	OMIM:194380
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Wt Limb-Blood Syndrome	Pancytopenia, Radioulnar synostosis, Joint contracture of the 5th finger, Leukemia, Hypoplastic a...	OMIM:194350
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con...	OMIM:615424
Refsum Disease, Classic	Cataract, Ataxia, Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid conc...	OMIM:266500
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Elevated circulating creatine kinase concentratio...	OMIM:612953
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Cataract, Elevated circulating creatine kinase concentration, Achilles tendon contracture, Heart ...	OMIM:615418
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ...	ORPHA:1067
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Zika Virus Disease	Subcutaneous hemorrhage, Macular atrophy, Retinal pigment epithelial mottling, Arthritis, Abnorma...	ORPHA:448237
Mohr-Tranebjaerg Syndrome	Tremor, Spasticity, Dysphagia, Dystonia, Abnormal posturing	OMIM:304700
Vascular Malformation, Primary Intraosseous	Elevated circulating alkaline phosphatase concentration, Hypochromic anemia	OMIM:606893
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:79302
Gaucher Disease	Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Abnormal bleed...	ORPHA:355
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hypertrophic cardiomyopathy, Osteoporosis, Hyperlipidemia	ORPHA:369
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Waddling gait, Retinal detachment, Corneal opacity, Osteoporosis, Incre...	ORPHA:2788
Pancreatic insufficiency, combined exocrine	Congestive heart failure, Hypoproteinemia	OMIM:260450
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,...	ORPHA:3002
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Williams-Beuren Syndrome	Vocal cord paralysis, Nephrocalcinosis, Glucose intolerance, Vesicoureteral reflux, Micropenis, P...	OMIM:194050
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, B lymphocytopenia...	OMIM:618048
Familial Cold Autoinflammatory Syndrome 1	Arthritis, Leukocytosis, Conjunctivitis, Elevated circulating C-reactive protein concentration	OMIM:120100
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney...	ORPHA:567546
Noonan Syndrome 12	Ventricular septal defect, Tetralogy of Fallot, Lymphopenia, Thrombocytopenia, Supravalvular aort...	OMIM:618624
Ring Chromosome 10 Syndrome	Hypocalcemia, Renal hypoplasia/aplasia	ORPHA:1438
Orthostatic Hypotension 2	Anemia, Hypoglycemia, Decreased glomerular filtration rate	OMIM:618182
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi...	ORPHA:97214
Williams Syndrome	Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial...	ORPHA:904
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule...	ORPHA:839
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia	OMIM:618856
Leigh Syndrome	Chorea, Choreoathetosis, Complex organic aciduria, Neutropenia, Ataxia, Renal tubular dysfunction...	ORPHA:506
Lethal Congenital Contracture Syndrome 5	Elevated circulating creatine kinase concentration, Flexion contracture, Subdural hemorrhage, Ret...	OMIM:615368
Reynolds Syndrome	Calcinosis, Gastrointestinal hemorrhage, Raynaud phenomenon, Splenomegaly, Lip telangiectasia, Pa...	OMIM:613471
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Thrombocytopenia	OMIM:615085
Pseudohypoaldosteronism Type 2	Hyperkalemia, Periodic paralysis	ORPHA:757
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi...	ORPHA:88
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Trichohepatoenteric Syndrome 1	Hypospadias, Increased mean platelet volume, Splenomegaly, Jaundice, Increased serum iron, Hypoal...	OMIM:222470
Immunodeficiency 46	Conjunctivitis, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Elevated uri...	OMIM:618049
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Conjugated hyperbilirubinemia, Aminoaciduria, Arthrogryposis multiplex...	OMIM:613404
Xp21 Deletion Syndrome	Joint laxity, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporo...	ORPHA:261476
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice, Neonat...	ORPHA:199296
Caroli Disease	Liver abscess, Portal hypertension, Anorexia, Conjugated hyperbilirubinemia, Splenomegaly, Leukoc...	ORPHA:53035
Necrotizing Enterocolitis	Hyponatremia, Shock, Leukocytosis, Abnormal heart morphology, Bradycardia, Hypotension, Neutropen...	ORPHA:391673
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia, Purpura	ORPHA:529
Peroxisome Biogenesis Disorder 13A (Zellweger)	Conjugated hyperbilirubinemia, Posterior embryotoxon, Increased circulating very long-chain fatty...	OMIM:614887
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Hurler-Scheie Syndrome	Abnormal heart valve morphology, Corneal opacity, Splenomegaly, Limitation of joint mobility, Car...	ORPHA:93476
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia, Splenomegaly	OMIM:601847
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Hypochromic microcytic anemia, Osteopetrosis, Throm...	ORPHA:3240
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity	ORPHA:90654
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Vitreoretinopathy, Neovascular Inflammatory	Retinal detachment, Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal...	OMIM:193235
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Tongue fasciculations, Dys...	OMIM:159950
Non-Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin, Thrombocytopenia	ORPHA:141179
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Arthritis	OMIM:611762
Von Willebrand Disease, Type 3	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha...	OMIM:277480
Harel-Yoon Syndrome	Corneal opacity, Ataxia, Inability to walk, Optic atrophy, Developmental cataract, Hypertrophic c...	OMIM:617183
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy	Elevated circulating alkaline phosphatase concentration, Ataxia	OMIM:616917
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain...	OMIM:617916
Diabetes Mellitus, Permanent Neonatal, 3	Ketonuria, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia	OMIM:618857
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Renal salt wasting	OMIM:201710
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Neonatal hypoglycemia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium c...	ORPHA:168558
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal scle...	OMIM:618476
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Leukocytosis, Elevated circulating alkaline phosphatase concentrat...	ORPHA:67
Glycogen Storage Disease Ixc	Splenomegaly, Hypertriglyceridemia	OMIM:613027
Neonatal Lupus Erythematosus	Abnormal bleeding, Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart ...	ORPHA:398124
Pseudopseudohypoparathyroidism	Ectopic ossification, Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ag...	OMIM:309000
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Myopic astigmatism, Optic atr...	OMIM:152950
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Hyperlipidemia, Reduced bone mine...	ORPHA:1414
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized aminoacidur...	ORPHA:289157
Spastic Paraplegia 29, Autosomal Dominant	Hyperactivity, Neonatal hyperbilirubinemia	OMIM:609727
Yunis-Varon Syndrome	Cataract, Ventricular septal defect, Absent sternal ossification, Sclerocornea, Cardiomegaly, Ren...	ORPHA:3472
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Hyperkalemia	OMIM:170500
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Neonatal hypoglycemia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium c...	ORPHA:289548
Mandibuloacral Dysplasia	Hypertriglyceridemia, Increased circulating free fatty acid level, Contractures of the large join...	ORPHA:2457
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Jaundice, Increased glucagon level, Hypercalcemia	ORPHA:913
Warburg-Cinotti Syndrome	Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Osteolytic defects of the pha...	OMIM:618175
Muckle-Wells Syndrome	Leukocytosis, Conjunctivitis, Elevated circulating C-reactive protein concentration, Conjunctival...	OMIM:191900
Isolated Thyroid-Stimulating Hormone Deficiency	Delayed proximal femoral epiphyseal ossification, Bradycardia, Attention deficit hyperactivity di...	ORPHA:90674
Familial Dysautonomia	Hyponatremia, Orthostatic hypotension, Tachycardia, Corneal opacity, Ataxia, Recurrent fractures,...	ORPHA:1764
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Impaired glucose tolerance, Polyuria, Clonus, Insulin resistance, Babinski ...	OMIM:606721
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Spider hemangioma, Splenomegaly, Arthritis, Increased total bilirubin	ORPHA:2137
Multiple Endocrine Neoplasia Type 4	Increased urinary cortisol level, Hypercalcemia, Fasting hyperinsulinemia, Hyperinsulinemic hypog...	ORPHA:276152
Orotic Aciduria	Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Cinca Syndrome	Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-reactive protein ...	ORPHA:1451
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Ataxia, Low alkaline phosphatase	OMIM:618879
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume	OMIM:615193
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Uri...	OMIM:616795
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys...	OMIM:619405
Mpi-Cdg	Abnormal circulating enzyme concentration or activity, Portal hypertension, Hypoalbuminemia, Decr...	ORPHA:79319
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia, Cerebral vasculitis	ORPHA:83601
Sanjad-Sakati Syndrome	Corneal opacity, Patchy osteosclerosis, Hyperphosphatemia, Astigmatism, Hypocalcemia	ORPHA:2323
Gaucher Disease, Type I	Pancytopenia, Epistaxis, Macular atrophy, Hypersplenism, Thrombocytopenia, Splenomegaly, Hyperten...	OMIM:230800
Isolated Biliary Atresia	Elevated hepatic transaminase, Dark yellow urine, Conjugated hyperbilirubinemia, Splenomegaly, Ja...	ORPHA:30391
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis, Hyperkalemia	OMIM:145260
Interstitial Lung And Liver Disease	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615486
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Joint contracture, Cataract, Elevated circulating creatine kinase concentration	OMIM:615704
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval, Joint contracture, Cataract, Elevated circulating creatine kinase concentr...	OMIM:615351
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy...	ORPHA:906
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:617729
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena...	ORPHA:411629
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia, Joint hypermobility	ORPHA:96184
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Telangiectasia of the skin, Thrombocytopenia	ORPHA:141184
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Ventricular septal defect, Aggressive behavior, Double out...	ORPHA:163956
Tularemia	Brain abscess, Tachycardia, Leukocytosis, Anemia, Conjunctivitis, Conjunctival hyperemia, Thrombo...	ORPHA:3392
Galloway-Mowat Syndrome 7	Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Pseudohypoparathyroidism Type 1A	Calcinosis, Prolonged QT interval, Increased bone mineral density, Cataract, Band keratopathy, Re...	ORPHA:79443
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Aminoaciduria, Myoclonus, Elevated hepatic iron concentration, Thrombocytopenia	OMIM:614946
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Neurocardiofaciodigital Syndrome	Optic disc pallor, Cataract, Sclerocornea, Double inlet left ventricle, Atrial septal defect, Tet...	OMIM:619869
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen...	OMIM:603909
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Myelofibrosis, Impaired thrombin-induced platelet agg...	OMIM:139090
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage, Gait disturbance	ORPHA:88619
Neurodegeneration With Brain Iron Accumulation 3	Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Spastici...	OMIM:606159
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Tempi Syndrome	Hypoxemia, Polycythemia, Increased hematocrit, Abnormality of the kidney	ORPHA:284227
Microtriplication 11Q24.1	Keratoconus, Hyperlipidemia, Limitation of joint mobility, Bruxism	ORPHA:289522
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Hypoglycemia, Renal salt wasting	OMIM:201910
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Hyperlipidemia, Permanent ...	ORPHA:31825
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Developmental cataract, Retinal calcification, Cortical thickening of long bone diap...	ORPHA:93325
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:619685
Galactose Mutarotase Deficiency	Cataract, Hypergalactosemia	ORPHA:570422
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet...	OMIM:153670
Cln3 Disease	Cataract, Ataxia, Aggressive behavior, Vacuolated lymphocytes, Optic atrophy, Pigmentary retinopa...	ORPHA:228346
Pseudo-Von Willebrand Disease	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Hyperuricemia, Anemia	ORPHA:371
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine...	OMIM:612716
Wild Type Attr Amyloidosis	Renal insufficiency, Proteinuria, Nephrotic syndrome, Elevated circulating alkaline phosphatase c...	ORPHA:330001
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Neutropenia, Thrombocytopenia	OMIM:598500
Retinoblastoma	Hypopyon, Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema,...	ORPHA:790
Lissencephaly 8	Cataract, Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:617255
Mercury Poisoning	Anorexia, Tremor, Hypokalemia, Dystonia, Acute kidney injury	ORPHA:330021
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Reticulocytopenia, A...	ORPHA:300298
Infantile Refsum Disease	Cataract, Ataxia, Elevated circulating phytanic acid concentration, Optic atrophy, Cardiomyopathy...	ORPHA:772
Renal Tubular Acidosis Iii	Periodic paralysis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Nephrocalcinosis...	OMIM:267200
Schimke Immunoosseous Dysplasia	Waddling gait, Osteopenia, Pancytopenia, Transient ischemic attack, Thrombocytopenia, Abnormal T ...	OMIM:242900
Paget Disease Of Bone 6	Nephrocalcinosis, Elevated circulating alkaline phosphatase concentration	OMIM:616833
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Ataxia, Elevated urinary dopamine level, Abnormality of uri...	OMIM:256700
Isovaleric Acidemia	Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Leukopenia, Thrombocytopenia	OMIM:243500
Dermotrichic Syndrome	Aminoaciduria, Anemia	ORPHA:99688
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Anorexia, Splenomegaly, Hypercalciuria, Hypoxemia	OMIM:181000
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Attention deficit hyperactivity disorder, Thrombocyto...	OMIM:619151
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Ataxia, Spastic tetraplegia, Nephr...	OMIM:251300
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Ataxia, Macular coloboma, Pulmonary embolism, Megalobl...	ORPHA:79282
Hyperlysinemia	Abnormal circulating enzyme concentration or activity, Hyperactivity, Neck hypertonia, Poor motor...	ORPHA:2203
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili...	OMIM:300367
Moyamoya Disease 6 With Or Without Achalasia	Raynaud phenomenon, Hypertension, Ischemic stroke, Dysphagia, Thrombocytopenia	OMIM:615750
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decreased LDL choles...	OMIM:615947
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Cataract, Abnormal heart valve morphology, Pulmonary embolism, Joint stiffness, Congestive heart ...	ORPHA:1345
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Clonus, Spastic tetraparesis, Babinski sign, Elevated amniotic fluid alpha-fetoprotein, Prolonged...	ORPHA:423479
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Radioulnar synostosis, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia, Limite...	OMIM:616738
X-Linked Hypophosphatemia	Renal phosphate wasting, Elevated circulating alkaline phosphatase concentration, Hypocalciuria, ...	ORPHA:89936
Juvenile Xanthogranuloma	Hyphema, Myeloproliferative disorder, Iritis, Asymmetry of iris pigmentation	ORPHA:158000
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Recurrent fractures, Craniosynostosis, Optic nerve compressi...	ORPHA:667
Morquio Syndrome C	Corneal opacity	OMIM:252300
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Leukopenia, Arthritis, Thrombocytopenia	OMIM:152700
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Tremor, Babinski sign, Renal tubular dysfunction, Glucose intolerance, H...	OMIM:616539
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Peroxisome Biogenesis Disorder 7A (Zellweger)	Epiphyseal stippling, Elevated circulating tetracosanoic acid concentration, Elevated circulating...	OMIM:614872
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio...	ORPHA:79444
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Portal hypertension, Hepatitis, Hypochromic microcytic anemia, Postprandial ...	ORPHA:440713
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Retinal detachment, Cataract, Elevated circulating creatine kinase concen...	OMIM:615181
Mucolipidosis Iv	Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal atrioventricular conducti...	ORPHA:280365
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Osteopenia, Joint stiffness, Hyperlipidemia, Flexion contracture, Elbow flexion contr...	OMIM:248370
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Dilated cardiomyopathy, Mitral regurgitation, ...	ORPHA:261250
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal cardiovascular system physiology, Unicameral bone cyst, Cardiomyop...	ORPHA:79086
Mirizzi Syndrome	Dark urine, Elevated hepatic transaminase, Anorexia, Jaundice, Elevated circulating alkaline phos...	ORPHA:521219
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Abnormality of neutrophils, Thrombocytopenia, Arthritis, A...	ORPHA:229717
Acute Intermittent Porphyria	Hyponatremia, Dark urine, Renal insufficiency, Abnormal circulating enzyme concentration or activ...	ORPHA:79276
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Anemia, Neutropenia, Thrombocytopenia	OMIM:617475
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Tip-toe ...	ORPHA:746
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy, Cataract, Elevated circulating phytanic acid concentration, Ataxia	OMIM:614879
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Primary Familial Polycythemia	Abnormal bleeding, Polycythemia, Epistaxis, Abnormal hemoglobin	ORPHA:90042
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Polydipsia, Increased urinary potassium, Decreased circulating renin level	ORPHA:231580
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Isolated Atp Synthase Deficiency	Cataract, Ataxia, Dilated cardiomyopathy, Optic atrophy, Hyperammonemia, Arrhythmia, Hyperalanine...	ORPHA:254913
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Elevated alkaline phosphatase of bone origin, Elevated circulating creatine kinase concentration,...	OMIM:167320
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania...	OMIM:231095
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, Coloboma, Tics, Compulsive behaviors, Chorioretinal coloboma, Juvenile cat...	OMIM:619475
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Castleman Disease	Renal insufficiency, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Jau...	ORPHA:160
Diamond-Blackfan Anemia 7	Macrocytic anemia, Horseshoe kidney, Increased mean corpuscular volume, Neutropenia, Vesicoureter...	OMIM:612562
Alpha-Mannosidosis	Craniofacial hyperostosis, Cataract, Corneal opacity, Splenomegaly, Arthritis, Synostosis of joints	ORPHA:61
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Camptodactyly of finger, Elevated ...	OMIM:256040
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Bleph...	OMIM:128100
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Camptodactyly of finger, Limitation of joint mobility, Radioulnar synostosis, Ab...	ORPHA:2741
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I...	ORPHA:3226
Lipodystrophy, Familial Partial, Type 6	Hypertension, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating crea...	OMIM:615980
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Ataxia, Splenomegaly, Elevated circulating alkaline phosphatase co...	OMIM:613489
Myeloproliferative Disease, Autosomal Recessive	Reduced leukocyte alkaline phosphatase, Myeloproliferative disorder	OMIM:254700
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Thin bony cortex, Portal hypertension, Rickets, Reduced b...	OMIM:613658
Muscle-Eye-Brain Disease	Optic atrophy, Cataract, Gait disturbance, Elevated circulating creatine kinase concentration	ORPHA:588
Hb Bart'S Hydrops Fetalis	Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
Alg12-Cdg	Hyponatremia, Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activit...	ORPHA:79324
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Pulmonary embolism, Perianal abscess, Hyperlipidemia, Hepatosplenomegaly, I...	ORPHA:444490
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Urinary incontinence, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxi...	OMIM:617145
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Dysphagia, Anemia, Decreased serum zinc, Hypoalbuminemia, Decreased circula...	ORPHA:89842
Ppoma	Gastrointestinal hemorrhage, Increased circulating cortisol level, Hypercalcemia, Anorexia	ORPHA:97278
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:435660
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Severe temper tantrums, Aggressive behavior, Optic atrophy, Dysmetria, Cardiomyopathy, At...	OMIM:617710
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Bruising su...	OMIM:601399
Hermansky-Pudlak Syndrome 5	Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet...	OMIM:614074
Sneddon Syndrome	Tremor, Nephropathy, Chorea, Hemiparesis	ORPHA:820
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu...	ORPHA:363618
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ...	ORPHA:3426
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,...	ORPHA:98849
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Ataxia, Abnormal den...	OMIM:214500
Liddle Syndrome 1	Renal insufficiency, Hypokalemia, Decreased circulating renin level	OMIM:177200
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Corneal scarring, Conjunctivitis, Elevate...	OMIM:263700
Congenital Sialidosis Type 2	Abnormal EKG, Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Te...	ORPHA:93400
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Extramedullary hematopoiesis, Epistaxis, Abnormality of thrombocytes, Splenome...	OMIM:612840
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Paralysis, Respiratory paralysis, Postprandial hyperglycemia, Periodic hypo...	ORPHA:681
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Hepatosplenomegaly, Abnormal heart m...	ORPHA:93399
Xq12-Q13.3 Duplication Syndrome	Low alkaline phosphatase, Bulimia, Agitation, Elevated circulating creatine kinase concentration	ORPHA:314389
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Portal hypertension, Hepatosplenomegaly, Hypoalbuminemia, Decrease...	ORPHA:367
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Tachycardia, Hyperuricemia, Neonatal hyperbilirubinemia	ORPHA:348
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Ataxia, Hypoglycemia, Lacticaciduria, Tubulointe...	OMIM:124000
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Polycythemia, Opisthotonus, Hypertonia, Methemoglobinemia	OMIM:250800
Pediatric-Onset Graves Disease	Hyperactivity, Atrial fibrillation, Craniosynostosis, Keratitis, Congestive heart failure, Spleno...	ORPHA:525731
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Parkinsonism, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Bradyki...	OMIM:261640
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity, Attention deficit hyperactivity disorder, Acute leukemia	ORPHA:281090
Bardet-Biedl Syndrome 9	Renal insufficiency, Polydipsia, Polyphagia, Hyperglycemia	OMIM:615986
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Decreased circulating plasmalogen concentration, Cataract, Optic nerve hypoplasia, Fl...	OMIM:222765
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, Transient hyper...	OMIM:255120
Multiple Endocrine Neoplasia Type 1	Nephrolithiasis, Hypercalcemia, Anorexia, Hypercalciuria	ORPHA:652
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular v...	OMIM:127550
Diamond-Blackfan Anemia	Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, D...	ORPHA:124
3-Methylglutaconic Aciduria, Type Viib	Abnormal bleeding, Cataract, Ataxia, Congestive heart failure, Flexion contracture, Choreoathetos...	OMIM:616271
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Elevated hepatic transaminase, Cyanosis, Aggressive behavior, Hyperlipidemia, Hyper...	ORPHA:293987
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Gait ataxia, Hypertrophic cardi...	ORPHA:496790
Adrenal Hypoplasia, Congenital	Hyponatremia, Renal salt wasting	OMIM:300200
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly...	ORPHA:100026
Adult-Onset Still Disease	Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Myocarditis, L...	ORPHA:829
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Optic nerve dysplasia, Abnormal heart morphology, Pigmentary retinopa...	OMIM:214110
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Osteosclerotic Metaphyseal Dysplasia	Elevated circulating alkaline phosphatase concentration	OMIM:615198
Bardet-Biedl Syndrome 20	Atrial septal defect, Hypercholesterolemia, Astigmatism, Papilledema	OMIM:619471
Walker-Warburg Syndrome	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Microcornea, Abnormal circulating c...	ORPHA:899
Primary Sclerosing Cholangitis	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Abnormal eosinophil mo...	ORPHA:171
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Thyrocerebrorenal Syndrome	Nonprogressive cerebellar ataxia, Thrombocytopenia	ORPHA:3327
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Hypertriglyceridemia, Pericardial effusion, Mitral valve prolapse, Keratoconjunctivit...	ORPHA:536532
Imerslund-Gräsbeck Syndrome	Abnormal bleeding, Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic a...	ORPHA:35858
Cutis Laxa, Autosomal Recessive, Type Iiia	Cataract, Joint hypermobility, Low plasma citrulline, Hyperammonemia, Athetosis, Hypoprolinemia, ...	OMIM:219150
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,...	ORPHA:821
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hypertriglyceridemia, Ventricular septal defect, Joint hypermobility, Macular a...	OMIM:619418
Parenteral Nutrition-Associated Cholestasis	Portal hypertension, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration...	ORPHA:567983
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Catastrophic Antiphospholipid Syndrome	Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran...	ORPHA:464343
Scheie Syndrome	Aortic regurgitation, Aortic valve stenosis, Corneal opacity, Retinal degeneration	OMIM:607016
Lacrimoauriculodentodigital Syndrome	Increased corneal thickness, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Recurre...	ORPHA:2363
Osteogenesis Imperfecta	Ataxia, Hypercalciuria, Nephrolithiasis, Tetraparesis, Dysphagia, Thrombocytopenia	ORPHA:666
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Cerebral palsy, Nephrolithiasis, Spastic tetraplegia, Athetosis, Hypokalemia, Spasticity, Decreas...	OMIM:615474
Alagille Syndrome 1	Posterior embryotoxon, Hypertriglyceridemia, Ventricular septal defect, Cataract, Band keratopath...	OMIM:118450
Hardikar Syndrome	Ventricular septal defect, Portal hypertension, Hematemesis, Hypersplenism, Splenomegaly, Partial...	OMIM:301068
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Waddling gait, Cataract, Right ventricular dilatation, Abnormal circulating creatine kinase conce...	ORPHA:369840
Hypermanganesemia With Dystonia 2	Hypermanganesemia, Generalized dystonia, Elevated circulating creatine kinase concentration, Park...	OMIM:617013
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Cyanosis, Elevated circulating creatinine concentration, Renal cyst	OMIM:617478
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Tremor, Splenomegaly, Low alkaline phosphatase, Decreased serum zinc	OMIM:201100
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Knee osteoarthrit...	ORPHA:1304
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Elevated alkaline phos...	ORPHA:289176
Glutaryl-Coa Dehydrogenase Deficiency	Limb dystonia, Abnormal circulating enzyme concentration or activity, Dystonia, Ataxia, Poor moto...	ORPHA:25
Quebec Platelet Disorder	Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi...	OMIM:601709
Scorpion Envenomation	Restlessness, Hemifacial spasm, Increased circulating NT-proBNP concentration, Ketonuria, Elevate...	ORPHA:466677
Cerebrotendinous Xanthomatosis	Optic disc pallor, Cataract, Angina pectoris, Ataxia, Myocardial infarction, Osteoporosis, Xanthe...	OMIM:213700
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia	ORPHA:26137
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:79085
Pseudohypoparathyroidism, Type Ia	Cataract, Osteoporosis, Hyperphosphatemia, Subcutaneous ossification, Hypocalcemic tetany	OMIM:103580
Tufted Angioma	Anemia, Thrombocytopenia, Petechiae, Purpura	ORPHA:1063
Neuraminidase Deficiency	Cataract, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Dysmetria, ...	OMIM:256550
Felty Syndrome	Pericarditis, Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Anemia, Arthriti...	ORPHA:47612
Sialidosis Type 1	Cataract, Corneal opacity, Ataxia, Splenomegaly, Aminoaciduria, Gait disturbance	ORPHA:812
Lipodystrophy, Congenital Generalized, Type 2	Cystic angiomatosis of bone, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Ventric...	OMIM:269700
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal agenesis, Hypocalcemia,...	ORPHA:2237
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Hypocalcemia, A...	ORPHA:2306
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Corneal opacity, Recurrent fractures, Coloboma, Hypophosphatemic rickets	OMIM:163200
Grfoma	Gastrointestinal hemorrhage, Increased circulating cortisol level, Hypercalcemia, Anorexia	ORPHA:97261
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal de...	OMIM:619534
Hypothyroidism Due To Tsh Receptor Mutations	Delayed proximal femoral epiphyseal ossification, Bradycardia, Increased circulating thyroglobuli...	ORPHA:90673
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardia, Iron...	OMIM:300855
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia	OMIM:188025
Fetal Gaucher Disease	Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Intracranial hemorrha...	ORPHA:85212
Hyperphenylalaninemia, Bh4-Deficient, B	Dystonia, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dysph...	OMIM:233910
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Cataract, Elevated circulating creatine kinase concentration, Optic nerve hyp...	ORPHA:370959
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Mitral valve calcification, Hypertriglyceridemia, Tricuspid regurgitation, Elevated h...	OMIM:619127
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Cerebral palsy, Spastic paraplegia, Nephrolithiasis, Athetosis, Hypokalemia, Polydipsia	ORPHA:369929
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Anemia	OMIM:618116
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Micropenis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Thrombocytopenia 6	Abnormal bleeding, Spontaneous, recurrent epistaxis, Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro...	ORPHA:853
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Portal hypertension, Hyper...	ORPHA:731
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Craniodiaphyseal Dysplasia, Autosomal Dominant	Elevated circulating alkaline phosphatase concentration	OMIM:122860
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Ocular albinism, Thrombocytopenia	OMIM:614171
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Anemia, Aminoaciduria, Neutropenia, Thrombocytopenia	OMIM:614520
3-Methylglutaconic Aciduria, Type Viia	3-Methylglutaconic aciduria, Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Abnormal bleeding, Thrombocytopenia	OMIM:314000
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Osteoporosis, Hypoal...	ORPHA:186
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia	OMIM:618838
Congenital Bile Acid Synthesis Defect Type 4	Cataract, Ataxia, Elevated circulating creatine kinase concentration, Hematochezia, Pigmentary re...	ORPHA:79095
Transketolase Deficiency	Cataract, Ventricular septal defect, Abnormal repetitive mannerisms, Abnormal heart morphology, S...	ORPHA:488618
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Immunodeficiency 96	Multicystic kidney dysplasia, Increased mean corpuscular volume, Increased proportion of gamma-de...	OMIM:619774
Pseudo-Torch Syndrome 1	Cataract, Petechiae, Splenomegaly, Opacification of the corneal stroma, Patent foramen ovale, Thr...	OMIM:251290
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Dystonia, Abnormal blood inorganic cation concentration, Portal hy...	ORPHA:309854
Adult-Onset Distal Myopathy Due To Vcp Mutation	Urinary incontinence, Parkinsonism, Tremor, Fasciculations, Frequent falls, Mildly elevated creat...	ORPHA:329478
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Tremor, Dysmetria, Gait ataxia, Elevated circulating alkaline phosphatase concentration, Oculomot...	ORPHA:529665
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Increased urinary potassium, Decreased circulating renin level	ORPHA:231625
Acute Radiation Syndrome	Abnormal bleeding, Cataract, Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thromboc...	ORPHA:454831
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Ataxia, Thrombocytopenia	OMIM:231000
Intrahepatic Cholestasis Of Pregnancy	Increased serum bile acid concentration, Hyperbilirubinemia	ORPHA:69665
Herpes Simplex Virus Encephalitis	Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ...	ORPHA:1930
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Membranoproliferative glomerulonephritis, Elevated circulating asp...	OMIM:619525
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Apolipoprotein A-I Deficiency	Decreased HDL cholesterol concentration, Angina pectoris, Xanthelasma, Opacification of the corne...	ORPHA:425
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Elevated circulating creatine kinase concentration, Fasciculations, Dysphagia	OMIM:313200
Multiple Endocrine Neoplasia, Type I	Increased circulating cortisol level, Hypercalcemia	OMIM:131100
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu...	ORPHA:88618
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Oslam Syndrome	Radioulnar synostosis, Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Classic Phenylketonuria	Self-injurious behavior, Cataract, Attention deficit hyperactivity disorder, Hyperphenylalaninemia	ORPHA:79254
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia, Decreased liver function	OMIM:618835
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Abnormality of alkaline phosphatase level, Head-banging	OMIM:619356
Combined Oxidative Phosphorylation Deficiency 42	Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia, Decreased liver function	OMIM:618839
Aicardi-Goutieres Syndrome 4	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610333
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia	ORPHA:435651
Gyrate Atrophy Of Choroid And Retina	Hyperornithinemia, Aminoaciduria, Cataract, Subcapsular cataract	ORPHA:414
Methemoglobinemia And Ambiguous Genitalia	Cyanosis, Scrotal hypospadias, Hypospadias, Micropenis, Methemoglobinemia	OMIM:250790
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Hypospadias, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Cartilage-Hair Hypoplasia	Abnormality of retinal pigmentation, Abnormally ossified vertebrae, Heart block, Abnormal bone os...	ORPHA:175
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Elevated circulating creat...	OMIM:614643
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Brain abscess, Transient ischemic ...	ORPHA:2929
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Elevated circulating creatine kinase concentration, Flexion contracture, Coloboma, Reti...	OMIM:615249
Gaucher Disease Type 3	Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Ataxia, Increased bone...	ORPHA:77261
Fabry Disease	Renal insufficiency, Proteinuria, Urinary mulberry cells, Fasciculations, Lipiduria, Anemia	OMIM:301500
Erythrokeratodermia Variabilis	Cataract, Corneal opacity	ORPHA:317
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Cataract, Congestive heart failure, Thromb...	ORPHA:508542
Pelizaeus-Merzbacher Disease	Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Tremor, Head titubation, Spastic parapleg...	OMIM:312080
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Degcags Syndrome	Osteopenia, Tachycardia, Pancytopenia, Ventricular septal defect, Tracheomalacia, Congenital hypo...	OMIM:619488
Bleeding Disorder, Platelet-Type, 21	Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men...	OMIM:617443
Systemic Capillary Leak Syndrome	Leukocytosis, Renal insufficiency, Oliguria, Abnormal renal tubule morphology	ORPHA:188
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration...	OMIM:236670
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Increased serum beta-hexosaminidase, Craniosynostosis, Hyperopic astigmatis...	OMIM:252600
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Elevated circulating alkaline phosphatase concentration, Elevated circulating creatine kinase con...	OMIM:615422
Mucopolysaccharidosis Type 3	Cardiomegaly, Flexion contracture, Atrioventricular block, Reduced bone mineral density, Loss of ...	ORPHA:581
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Broad-based gait, Limb ataxia, Persistence of hemoglobin F, Self-injurious behavior, Truncal atax...	OMIM:617101
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, Self-injurious behavior, High nonceruloplasmin-bound serum copper, Atrial sept...	ORPHA:457351
Ddost-Cdg	Elevated hepatic transaminase, Oromotor apraxia, Nephrotic range proteinuria, Tremor	ORPHA:300536
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Congenital Disorder Of Glycosylation, Type Ig	Micropenis, Hypospadias, Hypocalcemia, Hypoglycemia	OMIM:607143
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Aggressive behavior, Tremor, Paraparesis, Babin...	OMIM:615157
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor, Elevated circulating creatine kinase concentration, Dysphagia	OMIM:619790
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia...	ORPHA:565612
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Cataract, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow ...	OMIM:612394
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Short Stature, Microcephaly, And Endocrine Dysfunction	Lymphopenia, Diabetes mellitus, Ataxia, Unilateral renal agenesis, Ectopic kidney, Insulin resist...	OMIM:616541
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia, Liver abscess, Hypertension	ORPHA:69663
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, Diabetic ketoaci...	OMIM:262190
Aicardi-Goutieres Syndrome 5	Flexion contracture, Thrombocytopenia	OMIM:612952
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Urinary incontinence, Parkinsonism, Head titubation, Tremor, Rigidity, Gait ataxia, Cho...	OMIM:618877
Sjogren-Larsson Syndrome	Retinal pigment epithelial atrophy, Opacification of the corneal epithelium, Flexion contracture,...	OMIM:270200
Portal Hypertension, Noncirrhotic, 2	Epistaxis, Portal hypertension, Splenomegaly, Thrombocytopenia, Ecchymosis, Petechiae	OMIM:619463
Immunodeficiency 10	Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Normocytic anemia, Ataxia, Epistaxis, Abnormality of neutrophils, An...	ORPHA:33226
Central Retinal Vein Occlusion	Papilledema, Abnormal anterior eye segment morphology, Intraretinal hemorrhage, Macular degenerat...	ORPHA:411527
Gm1 Gangliosidosis	Ventricular septal defect, Corneal opacity, Ataxia, Camptodactyly of finger, Joint stiffness, Con...	ORPHA:354
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Proteinuria, Hypoglycemia, Splenomegaly, Hyperlipidemia, Nephrolit...	OMIM:232220
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Ataxia, Portal hypertension, Elevated circulating C-reactive protein concentration,...	OMIM:615688
Classic Pantothenate Kinase-Associated Neurodegeneration	Generalized dystonia, Spasticity, Opisthotonus, Attention deficit hyperactivity disorder, Dysphag...	ORPHA:216866
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Hyperactivity, Dystonia, Ataxia, Urinary incontinence, Parkinsonism, Acanthocytos...	OMIM:234200
Mccune-Albright Syndrome	Hyperphosphaturia, Pancytopenia, Hepatitis, Renal phosphate wasting, Renal tubular dysfunction, H...	ORPHA:562
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy...	OMIM:310600
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Renal salt wasting, Long penis, Hypokalemia, Increased urinary 11-deoxycorticosterone level, Decr...	ORPHA:90795
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Cystic Fibrosis	Hypercalciuria, Hepatosplenomegaly	OMIM:219700
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic kidney dis...	OMIM:608612
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Steatorrhea, Persist...	OMIM:260400
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hyperactivity, Ectopic kidney, Horseshoe kidney, Hypoalbuminemia, Vesicoureteral reflux, Hydronep...	OMIM:235510
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia...	OMIM:169400
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Thro...	ORPHA:79124
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Elevated circulating alkaline phosphatase concentration, Involuntary movements, Bruxism	OMIM:615716
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cataract, Ataxia, Hyperammonemia, Dysphagia, Choreoathetosis, Arrhythmia, Neutropenia, Hyperalani...	OMIM:615471
Transaldolase Deficiency	Pancytopenia, Ventricular septal defect, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Tela...	OMIM:606003
Farber Disease	Corneal opacity, Flexion contracture, Osteoporosis, Hepatosplenomegaly, Anemia, Arthritis, Abnorm...	ORPHA:333
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom...	ORPHA:231736
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, Macular atrophy, Coloboma,...	ORPHA:85167
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkalemia, Recurrent hypo...	ORPHA:293978
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Hyperammonemia	OMIM:253270
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Anemia, Coombs-positive...	OMIM:304790
Thyrocerebroretinal Syndrome	Ataxia, Thrombocytopenia	OMIM:274240
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Portal hypertension, Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Livedoid Vasculopathy	Pancytopenia, Telangiectasia of the skin, Leukocytosis, Hyperhomocystinemia, Hypertension, Ischem...	ORPHA:542643
Vici Syndrome	Lymphopenia, Elevated circulating creatine kinase concentration, Dysphagia, Leukopenia, T lymphoc...	OMIM:242840
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia, Periodic paralysis	OMIM:613345
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Cataract, Abnormal pulmonary valve morphology, Portal hypertension, ...	ORPHA:974
Sea-Blue Histiocytosis	Abnormal bleeding, Petechiae, Splenomegaly, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Ataxia, Retinal telangiectasia, Osteoporosis, Optic atrophy, Increased susceptibility...	OMIM:612199
Autosomal Recessive Cutis Laxa Type 2A	Abnormal bleeding, Corneal opacity, Ataxia, Inability to walk, Increased susceptibility to fractu...	ORPHA:357058
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Hyperactivity, Ventricular septal defect, Craniosynostosis, Hyperlipidemia,...	ORPHA:254346
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
Aregenerative Anemia	Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased ...	ORPHA:101096
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Generalized bone demineralization, Cor pulmonale, Opacification of the corneal stroma, Abnormal T...	OMIM:215250
Sandifer Syndrome	Abnormal posturing, Torticollis, Anemia	ORPHA:71272
Bernard-Soulier Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Pr...	ORPHA:274
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Hypokalemia, Abnormality of urine homeostasis	ORPHA:1501
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Alport Syndrome 1, X-Linked	Corneal erosion, Developmental cataract, Hypertension, Anterior lenticonus, Lenticonus, Thrombocy...	OMIM:301050
Velocardiofacial Syndrome	Ventricular septal defect, Aggressive behavior, Tetralogy of Fallot, Hypocalcemia, Posterior embr...	OMIM:192430
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, Heart murmur, Abnormal heart morphology	ORPHA:1867
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Persistence of hemoglobin F, Ventricular septal defect, Astigmatism	OMIM:619769
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk...	ORPHA:3243
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Hypertension	OMIM:151660
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb...	OMIM:614748
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Abnormal hemo...	ORPHA:847
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Pericardial effusion, Increased circulating ferritin concentratio...	OMIM:615846
Incontinentia Pigmenti	Retinal detachment, Cataract, Telangiectasia of the skin, Eosinophilia, Corneal opacity, Camptoda...	ORPHA:464
Fibular Hemimelia	Joint laxity, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitation of joint mob...	ORPHA:93323
Noonan Syndrome 4	Abnormal bleeding, Ventricular septal defect, Blue irides, Pulmonic stenosis, Atrial septal defec...	OMIM:610733
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Congestive heart failure, Cardiomyopathy, Abnormal circulating creatine kin...	ORPHA:98908
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Ataxia, Limitation of joint mobility, Ocular albinism, Athetosis, Anem...	ORPHA:2719
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Spastic Paraplegia 9B, Autosomal Recessive	Urinary incontinence, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paraly...	OMIM:616586
Cranioectodermal Dysplasia 2	Joint laxity, Craniosynostosis, Splenomegaly, Hypertension, Hyperbilirubinemia, Polysplenia, Atri...	OMIM:613610
Yunis-Varon Syndrome	Cataract, Ventricular septal defect, Absent sternal ossification, Sclerocornea, Heart murmur, Dec...	OMIM:216340
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Portal hypertension, Splenomegaly, Increased circulating ferritin concentratio...	ORPHA:465508
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia, Oligoarthritis, Elevated circulating C-reactive protein concentration	OMIM:614204
Lipodystrophy, Congenital Generalized, Type 1	Cystic angiomatosis of bone, Hypertriglyceridemia, Splenomegaly, Cardiomyopathy, Polyphagia	OMIM:608594
Mucopolysaccharidosis Type 2	Abnormal tricuspid valve morphology, Abnormal repetitive mannerisms, Oppositional defiant disorde...	ORPHA:580
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Craniosynostosis, Hypoalbuminemia, Anemia, Corneal opacity	ORPHA:79396
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hypospadias, Scrotal hypospadias, Hyperkalemia, Perineal hypospadias, Microphallus,...	OMIM:201810
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, ...	OMIM:150550
Microphthalmia, Syndromic 6	Microcornea, Coloboma, Lambdoidal craniosynostosis, Sclerocornea	OMIM:607932
Rift Valley Fever	Elevated hepatic transaminase, Anorexia, Paralysis, Paraparesis, Jaundice, Hepatitis, Hematuria, ...	ORPHA:319251
Atypical Werner Syndrome	Sclerosis of hand bone, Abnormality of retinal pigmentation, Increased bone mineral density, Hype...	ORPHA:79474
Kikuchi-Fujimoto Disease	Ataxia, Elevated circulating C-reactive protein concentration, Anorexia, Myocarditis, Thrombocyto...	ORPHA:50918
Lig4 Syndrome	Pancytopenia, Telangiectasia, Acute lymphoblastic leukemia, Astigmatism, Thrombocytopenia	OMIM:606593
Aicardi-Goutieres Syndrome 1	Petechiae, Splenomegaly, Inability to walk, Vasculitis, Cardiomyopathy, Self-mutilation, Thromboc...	OMIM:225750
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Hip contracture, Peripheral opacification of the cornea, Corneal opacity, Interphalan...	OMIM:259600
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Inability to walk, Thrombocytopenia	OMIM:616577
Developmental And Epileptic Encephalopathy 80	Increased urine alpha-ketoglutarate concentration, Elevated circulating alkaline phosphatase conc...	OMIM:618580
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Sudden cardiac death, Abnormality of neutrophils, Myocardial infarct...	ORPHA:36426
Rabson-Mendenhall Syndrome	Impaired glucose tolerance, Insulin resistance, Long penis, Fasting hyperinsulinemia, Insulin-res...	ORPHA:769
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Joint stiffness, Splenomegaly, Op...	ORPHA:585
Platelet Disorder, Undefined	Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Hurler-Scheie Syndrome	Aortic regurgitation, Corneal opacity, Camptodactyly of finger, Joint stiffness, Splenomegaly, Co...	OMIM:607015
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Vasculitis, In...	OMIM:617099
Paget Disease Of Bone 4	Elevated circulating alkaline phosphatase concentration	OMIM:606263
Boutonneuse Fever	Leukopenia, Thrombocytopenia, Vasculitis, Petechiae	ORPHA:83313
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Aplastic anemia, Limited prona...	OMIM:605432
Wagro Syndrome	Cataract, Corneal opacity, Aggressive behavior, Hypertension, Agitation, Compulsive behaviors, An...	OMIM:612469
Tay-Sachs Disease	Abnormal circulating enzyme concentration or activity, Exaggerated startle response, Incoordinati...	ORPHA:845
Vitamin D-Dependent Rickets, Type 2A	Elevated circulating alkaline phosphatase concentration, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Compulsive behaviors, Lim...	ORPHA:2388
Ebola Hemorrhagic Fever	Abnormal bleeding, Gastrointestinal hemorrhage, Melena, Leukopenia, Dysphagia, Lymphopenia, Throm...	ORPHA:319218
Hurler Syndrome	Aortic regurgitation, Corneal opacity, Joint stiffness, Splenomegaly, Flexion contracture, Crania...	OMIM:607014
Copper Deficiency, Familial Benign	Decreased circulating copper concentration, Anemia	OMIM:121270
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Sudden cardiac death, Thrombocytopenia, Corneal erosion, Dysphagia, ...	ORPHA:537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Asplenia, Abnormal pupil morphology, Flexion contracture, Microcornea, Abn...	ORPHA:261552
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting	OMIM:613743
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia	ORPHA:464453
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Osteoporosis, Leukopenia, Neutropenia, Thr...	OMIM:613989
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Mitchell-Riley Syndrome	Hyperbilirubinemia	OMIM:615710
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulating acylcarnit...	ORPHA:228308
Stt3B-Cdg	Optic atrophy, Thrombocytopenia	ORPHA:370924
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Keratitis, Hypertension, Recurrent corneal erosions, Opacification of the corneal stroma, Atrial ...	OMIM:308205
Prolidase Deficiency	Petechiae, Thrombocytopenia, Splenomegaly, Diffuse telangiectasia, Anemia	OMIM:170100
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
Congenital Disorder Of Glycosylation, Type Ix	Optic atrophy, Thrombocytopenia	OMIM:615597
Q Fever	Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Anorexia, Pericardial effusion, Myo...	ORPHA:781
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Cataract, Elevated circulating creatine kinase concentration, Dilated cardiom...	OMIM:253800
Cockayne Syndrome	Progressive gait ataxia, Lentiglobus, Congenital contracture, Retinal degeneration, Retinal atrop...	ORPHA:191
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Ataxia, Abnormality of neutrophils, Ocular albinism, Reduced bone mineral density, Hypo...	ORPHA:2720
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia, Ataxia	OMIM:618970
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Jaundice, Hyperkalemia, Hypoglycemia	ORPHA:90790
Pituitary Adenoma 4, Acth-Secreting	Glucose intolerance, Hypokalemia, Impaired glucose tolerance, Nephrolithiasis	OMIM:219090
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At...	ORPHA:99027
Zttk Syndrome	Spasticity, Polyuria, Unilateral renal agenesis, Horseshoe kidney	OMIM:617140
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Erythroid hypoplas...	OMIM:612541
Mandibuloacral Dysplasia With Type A Lipodystrophy	Cataract, Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Osteolyt...	ORPHA:90153
Scheie Syndrome	Aortic regurgitation, Corneal opacity, Joint stiffness, Splenomegaly, Limitation of joint mobility	ORPHA:93474
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia, Camptodactyly	OMIM:619980
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom...	OMIM:120200
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia, Hypospadias	OMIM:175700
Combined Oxidative Phosphorylation Deficiency 54	Tremor, Hyperglycemia, Hypertonia, Hemiparesis	OMIM:619737
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Ne...	OMIM:301078
Neurooculorenal Syndrome	Iris atrophy, Decreased circulating cortisol level, Dextrocardia, Conjugated hyperbilirubinemia, ...	OMIM:620305
Tick-Borne Encephalitis	Stiff neck, Elevated circulating C-reactive protein concentration, Anorexia, Leukocytosis, Leukop...	ORPHA:297
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity, Coarse metaphyseal trabecularization	OMIM:618961
Lassa Fever	Jaundice, Oliguria, Dysphagia	ORPHA:99824
Lowry-Maclean Syndrome	Osteopenia, Corneal opacity, Craniosynostosis, Developmental glaucoma, Osteoporosis, Atrioventric...	ORPHA:2409
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia, Periodic paralysis	OMIM:170400
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia, Pulmonary insufficiency, Early ossification of capital femoral epi...	OMIM:208500
Gaucher Disease, Perinatal Lethal	Petechiae, Akinesia, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Dysphagia,...	OMIM:608013
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
3-Methylglutaconic Aciduria, Type Viii	Dystonia, Clonus, Tremor, Jaundice, Neutropenia, 3-Methylglutaric aciduria, 3-Methylglutaconic ac...	OMIM:617248
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Gait disturbance, Corneal opacity, Ataxia	ORPHA:578
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T...	OMIM:620005
Steinert Myotonic Dystrophy	Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc...	ORPHA:273
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Aplasia of the thymus, Optic disc coloboma, Unconjugated hyperbilirubinemia, Atrial septal defect...	OMIM:620186
Pseudo-Torch Syndrome 2	Petechiae, Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia, Thrombocytopenia	OMIM:617397
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Ataxia, Tremor, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia, Intent...	OMIM:614052
Pediatric Systemic Lupus Erythematosus	Pericardial effusion, Raynaud phenomenon, Leukopenia, Arthritis, Microangiopathic hemolytic anemi...	ORPHA:93552
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Osteopenia, Pancytopenia, Cataract, Corneal opacity, Ataxia, Joint laxity, ...	ORPHA:309282
21Q22.11Q22.12 Microdeletion Syndrome	Hyperactivity, Tongue thrusting, Anemia, Self-injurious behavior, Stereotypical body rocking, Cam...	ORPHA:261323
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Thymoma	Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leuk...	ORPHA:99867
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Wolfram Syndrome	Recurrent urinary tract infections, Diabetes mellitus, Ataxia, Dysuria, Abnormality of the urinar...	ORPHA:3463
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Bradycardia, Hyperbilirubinemia	OMIM:218700
Juvenile Polyposis Of Infancy	Refractory anemia, Hypoalbuminemia, Anemia	ORPHA:79076
Ataxia-Telangiectasia	Diabetes mellitus, Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Slurred ...	OMIM:208900
Zellweger Syndrome	Cataract, Ventricular septal defect, Corneal opacity, Brushfield spots, Optic atrophy, Epiphyseal...	ORPHA:912
Good Syndrome	Abnormal leukocyte morphology, Recurrent urinary tract infections, Diabetes mellitus, Anemia, Dys...	ORPHA:169105
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Pulmonary embolism, Intracranial hemorrhage, Neutrophilia, Raynaud phenomenon, Leu...	ORPHA:3260
Van Buchem Disease	Elevated circulating alkaline phosphatase concentration	OMIM:239100
Lathosterolosis	Cataract, Anisopoikilocytosis, Abnormal platelet morphology, Microcornea, Opacification of the co...	ORPHA:46059
Glycerol Kinase Deficiency	Pathologic fracture, Hypertriglyceridemia, Osteoporosis, Hyperglycerolemia	OMIM:307030
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano...	OMIM:619381
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Cardiomyopathy, Dilatation of the ventricular cavity, Cataract, Elevated circulating creatine kin...	ORPHA:363623
Hyperphosphatasia-Intellectual Disability Syndrome	Ataxia, Elevated circulating alkaline phosphatase concentration, Myoclonus, Oculomotor apraxia, H...	ORPHA:247262
Homozygous Familial Hypercholesterolemia	Angina pectoris, Myocardial infarction, Sudden cardiac death, Optic neuropathy, Hyperlipidemia, H...	ORPHA:391665
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Cyclic neutropenia, Hypoglycemia, Hyperlipidemia, Hematuria, Fo...	OMIM:232240
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Hypospadias, Abnormal repetitive mannerisms, Reduced alpha/beta synthesis ratio, ...	OMIM:301040
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thrombocytopenia	OMIM:611126
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Tbck-Related Intellectual Disability Syndrome	Ventricular septal defect, Corneal opacity, Inability to walk, Osteoporosis, Pulmonic stenosis, A...	ORPHA:488632
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Prolonged bleeding time, Autoimmune h...	OMIM:301000
Hermansky-Pudlak Syndrome 2	Prolonged bleeding time, Absent platelet dense granules, Splenomegaly, Impaired ADP-induced plate...	OMIM:608233
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hemolytic anemia, Hypoplasia of the iris, Thrombocytopenia	ORPHA:169090
Amyotrophic Lateral Sclerosis 20	Elevated circulating alkaline phosphatase concentration	OMIM:615426
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated hepatic transaminase, Resting tremor, Diabetes mellitus, Ataxia, Elevated circulating cr...	ORPHA:254892
Immunodeficiency 22	Pericarditis, Abscess, Capillary leak, Anemia, Decreased proportion of CD4-positive helper T cell...	OMIM:615758
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Athetosis, Elevated circulating alkaline phosphatase concentration, Abnormal renal morphology	OMIM:239300
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Ectopic Aldosterone-Producing Tumor	Renal cortical adenoma, Hypokalemia, Decreased circulating renin level	ORPHA:231632
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, Cataract, Elevated circulating creatine kinase concentration	ORPHA:370997
Congenital Disorder Of Deglycosylation 1	Restlessness, Corneal opacity, Elevated circulating alpha-fetoprotein concentration, Oral-pharyng...	OMIM:615273
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Hyperglycemia	OMIM:615954
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Oliguria, Dysphagia	ORPHA:220393
Blue Rubber Bleb Nevus	Iron deficiency anemia, Intestinal bleeding, Pathologic fracture, Thrombocytopenia	OMIM:112200
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ...	ORPHA:758
Serotonin Syndrome	Restlessness, Clonus, Tremor, Rigidity, Hypertonia, Agitation, Myoclonus, Hepatic failure, Acute ...	ORPHA:43116
Hennekam Syndrome	Ectopic kidney, Splenomegaly, Horseshoe kidney, Hypocalcemia, Lymphopenia	ORPHA:2136
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Impulsivity, Aggressive behavior, Hypophosphaturia, Hypocalciuria, Abnormal temper tantrums, Atte...	ORPHA:73223
Fanconi Anemia, Complementation Group E	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Abnormal heart morphology, Neutropenia, Leukem...	OMIM:600901
Raine Syndrome	Elevated circulating alkaline phosphatase concentration, Hydroureter, Hydronephrosis, Hypophospha...	OMIM:259775
Mucopolysaccharidosis, Type Ivb	Joint laxity, Ataxia, Corneal opacity, Joint stiffness, Osteoporosis, Mitral regurgitation, Opaci...	OMIM:253010
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Cole Disease	Hyperglycemia, Abnormal blood phosphate concentration	OMIM:615522
Ivic Syndrome	Joint stiffness, Leukocytosis, Radioulnar synostosis, Arrhythmia, Thrombocytopenia, Synostosis of...	ORPHA:2307
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granuloma, Hyperbilirubinemia	ORPHA:562639
Parkinsonism-Dystonia 3, Childhood-Onset	Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Hypertonia, Hyperkinetic mov...	OMIM:619738
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Corneal opacity, Broa...	ORPHA:2072
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo...	ORPHA:244242
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Duplicated collecting system, Lower limb spasticity, Bilateral fetal pyelectasis, Spasticity, Ele...	OMIM:300868
Wars2-Related Combined Oxidative Phosphorylation Defect	Limb dystonia, Abnormal circulating enzyme concentration or activity, Ataxia, Neonatal hypoglycem...	ORPHA:572798
Isolated Permanent Neonatal Diabetes Mellitus	Apraxia, Ketonuria, Ataxia, Neonatal insulin-dependent diabetes mellitus, Abnormality of the uppe...	ORPHA:99885
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Osteopenia, Joint laxity, Corneal opacity, Developmental cataract	OMIM:616603
Parkinson Disease, Late-Onset	Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Urinary urgency, Bradykinesia, Dysphagia	OMIM:168600
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Joint ...	ORPHA:3163
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Giant platelets, Anemia, Camptodactyly, Left ventricular hypertrophy, Thrombocytopenia	OMIM:611209
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Paraparesis, ...	OMIM:606693
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Vesicoureteral reflux, Elevated circulating alkaline phosphatase concentration	OMIM:614749
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Ataxia, Anemia	ORPHA:3322
Glycogen Storage Disease Ia	Abnormal bleeding, Hyperlipidemia, Osteoporosis, Gout, Hypertension, Xanthelasma, Hyperuricemia	OMIM:232200
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Hyperactivity, Hypospadias, Ren...	OMIM:270400
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Ataxia, Aplastic anemia, Osteoporosis, Leukopenia, Thrombocytopenia	OMIM:613990
Glycosylphosphatidylinositol Biosynthesis Defect 11	Elevated circulating alkaline phosphatase concentration	OMIM:616025
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Hypokalemia, Periodic paralysis	OMIM:613239
Recon Progeroid Syndrome	Joint laxity, Thrombocytopenia, Keratoconjunctivitis sicca, Anemia	OMIM:620370
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Cataract, Flexion contracture, Corneal scarring, Conjunctivitis, Dysphagia, Anemia	OMIM:226600
Fanconi Anemia, Complementation Group A	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Abnormal heart morphology, Neutropenia, Leukem...	OMIM:227650
Cockayne Syndrome Type 3	Optic disc pallor, Cataract, Retinal atrophy, Splenomegaly, Unsteady gait, Subdural hemorrhage, R...	ORPHA:90324
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Microscopic Polyangiitis	Hematuria, Glomerulopathy, Renal insufficiency, Oliguria	ORPHA:727
Renal Nutcracker Syndrome	Proteinuria, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia	ORPHA:71273
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Impulsivity, Pa...	OMIM:614298
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Dystonia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprot...	OMIM:606002
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Generalized osteoporosis, Autoimmune thrombocytopenia, C...	ORPHA:391487
Retinoblastoma	Retinal calcification, Vitreous hemorrhage, Leukemia, Leukocoria	OMIM:180200
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Hepatosplenomegaly, Distal renal tubular acidosis, Periodic hypokal...	OMIM:259730
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Familial Multiple Lipomatosis	Coloboma, Hyperlipidemia, Abnormal tricuspid valve morphology	ORPHA:199276
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Takenouchi-Kosaki Syndrome	Ataxia, Increased mean platelet volume, Optic atrophy, Abnormal cardiac septum morphology, Pulmon...	OMIM:616737
Insensitivity To Pain, Congenital, With Anhidrosis	Hyperactivity, Osteomyelitis, Keratitis, Corneal scarring, Corneal ulceration, Recurrent corneal ...	OMIM:256800
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se...	OMIM:210710
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Opsismodysplasia	Renal phosphate wasting, Hypophosphatemia	OMIM:258480
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Osteoporosis, Pterygium, Thrombocytopenia	OMIM:224230
Fanconi Anemia, Complementation Group C	Pancytopenia, Ventricular septal defect, Thrombocytopenia, Flexion contracture, Reticulocytopenia...	OMIM:227645
Thrombocytopenia 1	Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Bruising susceptibility...	OMIM:313900
Multiple Sulfatase Deficiency	Splenomegaly, Retinal degeneration, Corneal opacity, Ataxia	OMIM:272200
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy...	ORPHA:1578
Hereditary Chronic Pancreatitis	Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:676
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Tremor, Vocal cord paralysis, Mildly elevated creatine kinase, Dysphagia	ORPHA:397744
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity, Craniosynostosis	ORPHA:1064
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Mucopolysaccharidosis Type 1	Abnormal heart valve morphology, Corneal opacity, Joint stiffness, Congestive heart failure, Sple...	ORPHA:579
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	ORPHA:32960
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Anemia, Iron...	ORPHA:79408
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Hyperparathyroidism, Transient Neonatal	Elevated circulating alkaline phosphatase concentration, Enlarged kidney, Unilateral renal agenes...	OMIM:618188
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Ataxia, Portal ...	ORPHA:1454
Mucopolysaccharidosis Type 4	Abnormal heart valve morphology, Corneal opacity, Reduced bone mineral density, Joint hyperflexib...	ORPHA:582
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium	OMIM:619339
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Ataxia, Hyperammonemia, Intracranial hemor...	ORPHA:90062
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria	OMIM:267430
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Involuntary ...	ORPHA:90068
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Localized pulmonary hemorrhage, Granu...	OMIM:608710
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Osteopenia, Increased serum beta-hexosaminidase, Craniosynostosis, Cardiome...	OMIM:252500
Donohue Syndrome	Long penis, Hyperinsulinemia, Fasting hypoglycemia, Postprandial hyperglycemia, Hyperglycemia	OMIM:246200
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi...	ORPHA:137675
Thrombocytopenia-Absent Radius Syndrome	Carpal synostosis, Cataract, Ventricular septal defect, Eosinophilia, Corneal opacity, Thrombocyt...	OMIM:274000
Incontinentia Pigmenti	Retinal detachment, Cataract, Eosinophilia, Keratitis, Leukocytosis, Optic atrophy, Retinal hemor...	OMIM:308300
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat...	ORPHA:668
Shwachman-Diamond Syndrome 2	Normocytic anemia, Steatorrhea, Prolonged prothrombin time, Neutropenia, Thrombocytopenia	OMIM:617941
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr...	ORPHA:2686
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ...	ORPHA:199351
Craniofacioskeletal Syndrome	Hydronephrosis, Hypospadias, Hypocalcemia	OMIM:300712
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Conjunctivitis, Corneal opacity	OMIM:602562
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Osteo...	ORPHA:189427
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Hurler Syndrome	Abnormal heart valve morphology, Angina pectoris, Corneal opacity, Camptodactyly of finger, Splen...	ORPHA:93473
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	OMIM:249100
Arteriosclerosis, Severe Juvenile	Chronic kidney disease, Anemia	OMIM:208060
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Dystonia, Tremor, Splenomegaly, Jaundice,...	OMIM:615512
Diamond-Blackfan Anemia 21	Aortic regurgitation, Secundum atrial septal defect, Erythroid hypoplasia, Anemia, Thrombocytopenia	OMIM:620072
Macular Degeneration, Age-Related, 1	Geographic atrophy, Macular degeneration, Macular hemorrhage	OMIM:603075
Jacobsen Syndrome	Ventricular septal defect, Flexion contracture, Optic atrophy, Microcornea, Chorioretinal colobom...	OMIM:147791
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypospadias, Hypokalemia, Micropenis, Increased urinary 11-deoxycorticosterone level, Decreased c...	ORPHA:90793
Ivic Syndrome	Limited interphalangeal movement, Limited elbow movement, Limited wrist movement, Leukocytosis, R...	OMIM:147750
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte...	OMIM:620330
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Limited hip extension, Flexion contracture, Retinal hemor...	OMIM:614653
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Anemia, Leukopenia, Prolonged prothrombin time, Microangiopath...	ORPHA:2330
Mucopolysaccharidosis Type 7	Joint stiffness, Splenomegaly, Corneal opacity, Epiphyseal stippling	ORPHA:584
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Corneal opacity, Asplen...	ORPHA:99776
Secondary Intestinal Lymphangiectasia	Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc...	ORPHA:90363
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Generalized joint laxity, Abnormal circulating apolipoprotein concentration, Subretinal pigment e...	ORPHA:357074
Dyskeratosis Congenita	Cataract, Telangiectasia of the skin, Recurrent fractures, Abnormality of neutrophils, Thrombocyt...	ORPHA:1775
Familial Drusen	Abnormality of retinal pigmentation, Macular atrophy, Reticular pigmentary degeneration, Granular...	ORPHA:75376
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Violent behavior, Elevated circulating aspartate aminotransferase c...	OMIM:280000
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Elevated circulat...	ORPHA:100085
Nasopalpebral Lipoma-Coloboma Syndrome	Coloboma, Conjunctival hyperemia, Cataract, Corneal opacity	ORPHA:2399
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Flexion contracture, Knee flexion contracture, Hypocalce...	OMIM:619503
Oculomaxillofacial Dysostosis	Corneal opacity, Camptodactyly of finger	ORPHA:1794
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Ataxia, Dystonia, Hypoglycemia, Tremor, Truncal ataxia, Hyperammonemia, D...	OMIM:220111
Thrombocytopenia 3	Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume	OMIM:273900
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Abnormal heart valve morphology, Corneal opacity, Sagitt...	ORPHA:536471
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Osteomyelitis, Rectal abscess, Elevated circulating C-reactive protein concentration	OMIM:116920
Mucopolysaccharidosis, Type Vii	Abnormal heart valve morphology, Corneal opacity, Joint stiffness, Splenomegaly, Flexion contract...	OMIM:253220
Dubowitz Syndrome	Cataract, Abnormality of neutrophils, Craniosynostosis, Acute lymphoblastic leukemia, Anemia, Joi...	ORPHA:235
Classic Homocystinuria	Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Cataract, R...	ORPHA:394
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Cataract, Ataxia, Osteoporosis, Optic atrophy, Anemia, Leuk...	OMIM:305000
Nelson Syndrome	Increased urinary cortisol level, Hypokalemia, Type II diabetes mellitus	ORPHA:199244
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Periodic paralysis	OMIM:188580
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Hypertriglyceridemia, Cataract, Corneal opacity, Ataxia, Camptodactyly of finger, Con...	ORPHA:3455
Bartsocas-Papas Syndrome	Popliteal pterygium, Synostosis of joints, Corneal opacity	ORPHA:1234
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Hypokalemia, Hypoglycemia	ORPHA:786
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Decreased heart rate variability, Attention deficit hyperacti...	OMIM:619005
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Fanconi Anemia, Complementation Group D2	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Abnormal heart morphology, Attention deficit h...	OMIM:227646
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Mitral val...	OMIM:177850
Glycosylphosphatidylinositol Biosynthesis Defect 25	Low alkaline phosphatase	OMIM:619985
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Elevated circulating alkaline phosphatase concentration, Renal cortical cysts	OMIM:618548
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Hermansky-Pudlak Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Cataract, Epistaxis, Abnormality of thrombocytes,...	ORPHA:79430
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Retinal detachment, Optic disc pallor, Ventricular septal defect, Corneal o...	ORPHA:464311
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Familial Hyperaldosteronism Type I	Hypokalemia, Polydipsia	ORPHA:403
Charge Syndrome	Lymphopenia, Overriding aorta, Ventricular septal defect, Cataract, Secundum atrial septal defect...	OMIM:214800
Igg4-Related Thyroid Disease	Vocal cord paralysis, Hypocalcemia, Dysphagia	ORPHA:64744
Camurati-Engelmann Disease, Type 2	Elevated circulating alkaline phosphatase concentration	OMIM:606631
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr...	OMIM:192315
Trichohepatoneurodevelopmental Syndrome	Splenomegaly, Elevated circulating alkaline phosphatase concentration, Decreased liver function, ...	OMIM:618268
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Cataract, Secundum atrial septal defect, Flexion contracture, Dysphagia, Hy...	OMIM:264090
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia, Osteolysis, Osteolytic defects of the distal phalanges of the hand, A...	ORPHA:90154
Gaucher Disease, Type Iiic	Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Focal Dermal Hypoplasia	Telangiectasia of the skin, Ventricular septal defect, Corneal opacity, Ectopia lentis, Camptodac...	ORPHA:2092
Olmsted Syndrome 1	Flexion contracture, Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Hereditary Fructose Intolerance	Cataract, Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Abnormality of retinal pigmentation, Abnormal heart valve morphology, Abnormal pulmo...	ORPHA:217085
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Hyperactivity, Retinal pigment epitheli...	OMIM:251260
Cornelia De Lange Syndrome 1	Ventricular septal defect, Optic disc coloboma, Elbow flexion contracture, Optic atrophy, Microco...	OMIM:122470
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Ataxia, Recurrent fractures, Join...	ORPHA:636
Autosomal Dominant Spastic Paraplegia Type 9A	Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Urinary urgency, Pollakisur...	ORPHA:447753
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Abnormality of retinal pigmentation, Abnormal heart valve morphology, Abnormal pulmo...	ORPHA:217093
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Osteoarthritis, Reduced bone mineral density, Intracranial hemorrhage, Lim...	ORPHA:740
Immunodeficiency 40	T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia	OMIM:616433
Sickle Cell Disease	Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Hypertension, Inc...	OMIM:603903
Cogan Syndrome	Aortic regurgitation, Keratitis, Leukocytosis, Vasculitis, Large vessel vasculitis, Conjunctiviti...	ORPHA:1467
De Barsy Syndrome	Osteopenia, Cataract, Ventricular septal defect, Corneal opacity, Generalized joint laxity, Athet...	ORPHA:2962
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Joint hypermob...	ORPHA:2714
Chime Syndrome	Ventricular septal defect, Corneal opacity, Tetralogy of Fallot, Osteolysis, Acute leukemia, Reti...	ORPHA:3474
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	OMIM:218030
Mogs-Cdg	Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrop...	ORPHA:79330
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Developmental And Epileptic Encephalopathy 95	Elevated circulating alkaline phosphatase concentration, Inappropriate laughter, Low alkaline pho...	OMIM:618143
Jacobsen Syndrome	Cataract, Ventricular septal defect, Microcornea, Hypoplastic left heart, Attention deficit hyper...	ORPHA:2308
Mucopolysaccharidosis, Type Vi	Tricuspid regurgitation, Corneal opacity, Joint stiffness, Splenomegaly, Flexion contracture, Car...	OMIM:253200
Oculocerebrocutaneous Syndrome	Corneal opacity, Iris coloboma	ORPHA:1647
Primary Sjögren Syndrome	Normocytic anemia, Raynaud phenomenon, Vasculitis, Leukopenia, Normochromic anemia, Keratoconjunc...	ORPHA:289390
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Cataract, Reduced bone mineral density, Anemia, Leuko...	ORPHA:84
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Thrombocytopenia	OMIM:613987
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Asplenia, Keratoconjunctivitis, Iron deficiency anemia, Steatorrhea	OMIM:269200
Fanconi Anemia, Complementation Group F	Atrial septal defect, Leukopenia, Thrombocytopenia, Anemia	OMIM:603467
Dyggve-Melchior-Clausen Disease	Hyperactivity, Corneal opacity, Inability to walk, Difficulty walking, Limited knee extension, Li...	ORPHA:239
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hypospadias, Hypoglycemia, Vesicovaginal fistula, Hyperkalemia, Horseshoe kidney, C...	OMIM:201750
Johanson-Blizzard Syndrome	Joint laxity, Ventricular septal defect, Increased VLDL cholesterol concentration, Portal hyperte...	OMIM:243800
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia	OMIM:308230
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Extrapyramidal muscular rigidity, Dystonia, Diabetes mellitus, Neo...	ORPHA:51
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Elevated circulating alkaline phosphatase concentration	OMIM:600785
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Cataract, Corneal opacity, Osteolysis, Acute lymphoblastic leukemia, Subval...	ORPHA:1052
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Optic disc pallor, Hyperactivity, Multiple joint contractures, Ventricular ...	ORPHA:464306
Thrombocytopenia-Absent Radius Syndrome	Fused cervical vertebrae, Abnormal cardiac septum morphology, Tetralogy of Fallot, Thrombocytopenia	ORPHA:3320
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Urachal Cyst	Leukocytosis, Abscess, Elevated circulating C-reactive protein concentration	ORPHA:488
Metaphyseal Dysplasia, Braun-Tinschert Type	Elevated alkaline phosphatase of bone origin, Increased urinary type 1 collagen N-terminal telope...	ORPHA:85188
Congenital Disorder Of Glycosylation, Type Iim	Atrial septal defect, Hypertension, Neonatal hyperbilirubinemia	OMIM:300896
Niemann-Pick Disease Type C	Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Compuls...	ORPHA:646
Unilateral Polymicrogyria	Cyanosis, Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, ...	ORPHA:268943
Metachromatic Leukodystrophy	Abnormal circulating enzyme concentration or activity, Incoordination, Ataxia, Urinary incontinen...	ORPHA:512
Fanconi Anemia, Complementation Group B	Aplastic anemia, Ventricular septal defect, Thrombocytopenia	OMIM:300514
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Corneal opacity, Bone cyst, Osteolysis, Tricuspid valve prolapse, Pulm...	ORPHA:2396
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, Bup...	OMIM:253280
Fucosidosis	Corneal opacity, Cardiomegaly	ORPHA:349
Retinal Arteries, Tortuosity Of	Retinal hemorrhage	OMIM:180000
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Pmm2-Cdg	Elevated hepatic transaminase, Proteinuria, Ataxia, Abnormality of coordination, Reduced thyroxin...	ORPHA:79318
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Anemia, Dysphagia	OMIM:230900
Premature Aging Syndrome, Penttinen Type	Corneal opacity, Recurrent fractures, Osteoporosis, Corneal stromal edema, Osteolytic defects of ...	OMIM:601812
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Pancreatic And Cerebellar Agenesis	Hyperglycemia, Diabetes mellitus, Hypoglycemia, Anemia	OMIM:609069
Fibrodysplasia Ossificans Progressiva	Elevated circulating alkaline phosphatase concentration	OMIM:135100
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Cataract, Retinal hemorrhage, Anterior chamber cells, Posterior ...	ORPHA:79098
Familial Hyperaldosteronism Type Ii	Hypokalemia	ORPHA:404
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Babinski sign, Urinary urgency, Bra...	OMIM:146500
Roberts Syndrome	Cataract, Progressive flexion contractures, Craniosynostosis, Knee flexion contracture, Radioulna...	ORPHA:3103
Calvarial Doughnut Lesions With Bone Fragility	Elevated circulating alkaline phosphatase concentration	OMIM:126550
Tyrosinemia Type 2	Corneal opacity, Ataxia	ORPHA:28378
Microphthalmia, Syndromic 2	Retinal detachment, Ventricular septal defect, Dextrocardia, Remnants of the hyaloid vascular sys...	OMIM:300166
Hypophosphatasia, Adult	Low alkaline phosphatase	OMIM:146300
Kindler Epidermolysis Bullosa	Corneal opacity, Camptodactyly of finger, Flexion contracture, Conjunctivitis, Dysphagia, Anemia	ORPHA:2908
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Ataxia, Limb joint contracture, Splenomegaly, Flexion contracture, Truncal ataxia, Thrombocytopenia	OMIM:301072
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Aromatase Deficiency	Osteopenia, Hyperlipidemia, Delayed epiphyseal ossification, Osteoporosis	ORPHA:91
Short Syndrome	Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus	OMIM:269880
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Cyanosis, Ataxia, Hypokalemia, Hypertonia, Myoclonus, Spasticity	OMIM:618426
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Trichinellosis	Retinal hemorrhage, Anisocoria, Conjunctivitis, Dysphagia, Conjunctival hyperemia	ORPHA:863
Neuroocular Syndrome	Hyperextensibility of the finger joints, Cataract, Remnants of the hyaloid vascular system, Brush...	OMIM:619539
Systemic Lupus Erythematosus	Hemolytic anemia, Raynaud phenomenon, Hypertension, Leukopenia, Arthritis, Thrombocytopenia	ORPHA:536
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Increased mean platelet volume, Flexion contracture, Optic atrophy, Abnormal heart morphology, To...	ORPHA:487796
Mosaic Trisomy 8	Arthrogryposis multiplex congenita, Limitation of joint mobility, Corneal opacity, Camptodactyly ...	ORPHA:96061
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Long penis, Decreased circulating renin level	OMIM:202010
Deeah Syndrome	Decreased hemoglobin concentration, Decreased heart rate variability, Dysphagia, Self-mutilation,...	OMIM:619004
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity	OMIM:619351
Paget Disease Of Bone 3	Elevated circulating alkaline phosphatase concentration	OMIM:167250
Gallbladder Disease 1	Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration	OMIM:600803
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ...	OMIM:221800
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Posterior subcapsular cataract, Unsteady gait, Dysphagia...	ORPHA:637
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Acute leukemia, Attention deficit hyperactivity di...	ORPHA:647
Gorham-Stout Disease	Torticollis, Elevated alkaline phosphatase of bone origin	ORPHA:73
Fryns Syndrome	Abnormal cardiac septum morphology, Corneal opacity, Tetralogy of Fallot	ORPHA:2059
Osteogenesis Imperfecta, Type Xi	Elevated circulating alkaline phosphatase concentration	OMIM:610968
Alström Syndrome	Optic disc pallor, Hypertriglyceridemia, Cataract, Ataxia, Portal hypertension, Retinal pigment e...	ORPHA:64
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Elevated circulating alkaline phosphatase concentration	OMIM:614207
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia, Periodic hypokalemic paresis, Periodic paralysis	OMIM:170390
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad-based gait, Corneal opacity, Corneal dystrophy, Optic nerve hypoplasia, Aggressive behavior...	ORPHA:495875
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Transient ischemic attack, Left ventricular systolic dysfunction, Osteom...	ORPHA:51608
Larsen Syndrome	Joint laxity, Vertebral fusion, Ventricular septal defect, Corneal opacity, Tracheomalacia, Multi...	OMIM:150250
Craniometadiaphyseal Dysplasia	Elevated circulating alkaline phosphatase concentration	OMIM:269300
Moebius Syndrome	Arthrogryposis multiplex congenita, Corneal opacity, Dysphagia	ORPHA:570
Proboscis Lateralis	Cataract, Ventricular septal defect, Corneal opacity, Optic nerve hypoplasia, Optic disc coloboma...	ORPHA:141099
Estrogen Resistance Syndrome	Elevated tissue non-specific alkaline phosphatase, Glucose intolerance, Hyperinsulinemia	ORPHA:785
Eiken Syndrome	Elevated circulating alkaline phosphatase concentration	OMIM:600002
Aneurysm Of Sinus Of Valsalva	Oliguria	ORPHA:1054
Leukemia, Chronic Myeloid	Reduced leukocyte alkaline phosphatase, Ph-positive acute lymphoblastic leukemia, Chronic myeloge...	OMIM:608232
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Osteopenia, Joint laxity, Corneal opacity, Congestive heart failure, Dilata...	ORPHA:90348
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Woodhouse-Sakati Syndrome	Choreoathetosis, Abnormal T-wave, Hyperlipidemia, Osteopenia	ORPHA:3464
3Mc Syndrome 3	Radioulnar synostosis, Corneal opacity	OMIM:248340
Estrogen Resistance	Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia, Elevated alkaline phosphatase ...	OMIM:615363
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Retinal dysplasia, Optic nerve dysplasia, Elevated circulating creatine kinase concentration, Opa...	OMIM:615287
Limb Body Wall Complex	Ventricular septal defect, Corneal opacity, Abnormal heart morphology, Lens subluxation, Atrial s...	ORPHA:2369
Woodhouse-Sakati Syndrome	Choreoathetosis, Abnormal T-wave, Hyperlipidemia	OMIM:241080
Spondyloepimetaphyseal Dysplasia, Krakow Type	Elevated circulating alkaline phosphatase concentration	OMIM:618162
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity	ORPHA:364577
Peters Plus Syndrome	Cataract, Corneal opacity, Bicuspid pulmonary valve, Optic atrophy, Microcornea, Abnormal cardiac...	ORPHA:709
Tropical Endomyocardial Fibrosis	Splenomegaly, Hypoalbuminemia, Eosinophilia	ORPHA:75565
Boudin-Mortier Syndrome	Elevated alkaline phosphatase of bone origin	OMIM:619543
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Vesicoureteral reflux, Hyperglycemia, Hypospadias, Horseshoe kidney	ORPHA:444077
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Hyperglycemia, Diabetes mellitus, Glycosuria	OMIM:600001
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Ventricular septal defect, Corneal opacity, Ankle flexion contracture...	OMIM:268300
Noonan Syndrome 1	Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricula...	OMIM:163950
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Igg4-Related Dacryoadenitis And Sialadenitis	Keratoconjunctivitis sicca, Optic nerve compression, Thrombocytopenia	ORPHA:79078
Ablepharon Macrostomia Syndrome	Corneal erosion, Corneal opacity, Camptodactyly of finger	ORPHA:920
Tsh-Secreting Pituitary Adenoma	Tremor, Hypokalemia, Periodic hypokalemic paresis	ORPHA:91347
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Ventricular septal hypertrophy, Corneal opacity	OMIM:608670
Scalp-Ear-Nipple Syndrome	Cataract, Cardiac myxoma, Congestive heart failure, Developmental cataract, Anisocoria, Hypertens...	OMIM:181270
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Single ...	OMIM:157170
Gallbladder Neuroendocrine Tumor	Elevated alkaline phosphatase of hepatic origin, Elevated gamma-glutamyltransferase level, Anorex...	ORPHA:100086
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Corneal opacity, Camptodactyly of finger, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis	ORPHA:2273
Fraser Syndrome 1	Corneal opacity, Abnormal heart morphology	OMIM:219000
Vascular Ehlers-Danlos Syndrome	Hypospadias, Cystocele, Renovascular hypertension, Bladder diverticulum, Hypokalemia	ORPHA:286
Spondyloepimetaphyseal Dysplasia, X-Linked	Abnormality of alkaline phosphatase level	OMIM:300106
Scalp-Ear-Nipple Syndrome	Hypertension, Cataract	ORPHA:2036

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Kctd1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Kctd1.

There are 7 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis.	The Journal of clinical investigation (December 2023)	Kctd15^{tm1c(EUCOMM)Wtsi} Kctd1^{tm1c(EUCOMM)Wtsi} Kctd15^{tm1a(EUCOMM)Wtsi} Kctd1^{tm1d(EUCOMM)Wtsi} Kctd15^{tm1b(EUCOMM)Wtsi} Kctd1^{tm1b(EUCOMM)Wtsi}	PMC10866662
Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models.	Molecular autism (January 2021)	Kctd13^em2(IMPC)Ics	PMC7805198
AP-2β/KCTD1 Control Distal Nephron Differentiation and Protect against Renal Fibrosis.	Developmental cell (June 2020)	Kctd1^{tm1a(EUCOMM)Wtsi}	32553120
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Kctd10^{Gt(RRG305)Byg}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Kctd10^{Gt(RRG305)Byg}	PMC6459510
Kctd13 deletion reduces synaptic transmission via increased RhoA.	Nature (November 2017)	Kctd13^{tm1(KOMP)Vlcg} Kctd13^{tm1.1(KOMP)Vlcg}	29088697
Transcriptome Analysis of Targeted Mouse Mutations Reveals the Topography of Local Changes in Gene Expression.	PLoS genetics (February 2016)	Kctd15^{tm1a(EUCOMM)Wtsi}	PMC4739719

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MGI Allele	Allele Type	Produced
Kctd1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Kctd1^em1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Kctd1 MGI:1918269

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

X-ray

X-ray

X-ray

Auditory Brain Stem Response

Human diseases caused by Kctd1 mutations

Histopathology

IMPC related publications

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