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Gene: Hmox1 MGI:96163

Gene Summary

Name:

heme oxygenase 1

Synonyms:

D8Wsu38e, Hmox, HO-1, Hsp32, HO1, heme oxygenase 1

Order Alleles

IMPC Data Collections

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
abnormal placenta morphology	Hmox1^em1(IMPC)Mbp	HET	E15.5
microphthalmia	Hmox1^em1(IMPC)Mbp	HET	E15.5
abnormal craniofacial morphology	Hmox1^em1(IMPC)Mbp	HOM	E15.5
abnormal facial morphology	Hmox1^em1(IMPC)Mbp	HOM	E15.5
preweaning lethality, complete penetrance	Hmox1^em1(IMPC)Mbp	HOM	Early adult
hemorrhage	Hmox1^em1(IMPC)Mbp	HET	E15.5
embryonic growth retardation	Hmox1^em1(IMPC)Mbp	HOM	E15.5
abnormal placenta size	Hmox1^em1(IMPC)Mbp	HOM	E18.5
preweaning lethality, incomplete penetrance	Hmox1^em1(IMPC)Mbp	HOM	Early adult
abnormal head shape	Hmox1^em1(IMPC)Mbp	HOM	E15.5
abnormal placenta morphology	Hmox1^em1(IMPC)Mbp	HOM	E15.5
edema	Hmox1^em1(IMPC)Mbp	HET	E15.5

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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MicroCT E18.5

Embryo reconstruction

4 Images

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Gross Morphology Embryo E14.5-E15.5

Images

17 Images

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X-ray

XRay Images Whole Body Dorso Ventral

120 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

5 Images

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Gross Morphology Embryo E18.5

Images

1 Images

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Human diseases caused by Hmox1 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 Hmox1 (3 diseases)
Human diseases predicted to be associated with Hmox1 (2314 diseases)

The table below shows human diseases associated to Hmox1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Protei...	OMIM:614034
Cystic Fibrosis	Elevated hepatic transaminase, Recurrent respiratory infections, Sinusitis, Absent vas deferens, ...	ORPHA:586
Pulmonary Disease, Chronic Obstructive	Chronic pulmonary obstruction	OMIM:606963

The table below shows human diseases predicted to be associated to Hmox1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Elevated circulating C-reactive protein concentration, Hepatomegaly, Membr...	OMIM:619644
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg...	OMIM:615285
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Retrograde ejaculation,...	ORPHA:49041
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increas...	OMIM:616860
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf...	ORPHA:444463
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Increased circulating lacta...	ORPHA:232
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Elevated creatine kinase after exercise, Su...	ORPHA:99901
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi...	OMIM:619375
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hep...	OMIM:604416
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal infla...	OMIM:619858
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, P...	ORPHA:422
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Death in infancy, Congestive heart failure, Microvesicular hepatic...	OMIM:611126
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Dyspnea, Abnormality of iron homeostasis, Anemia	ORPHA:75563
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Lymphopenia	OMIM:247800
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Death in infanc...	OMIM:619355
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se...	OMIM:617056
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Majeed Syndrome	Glomerulopathy, Hepatomegaly, Inflammatory abnormality of the skin, Proteinuria, Acne, Osteomyeli...	ORPHA:77297
Immunodeficiency, Common Variable, 6	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, ...	OMIM:613496
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Abnormal left ventricu...	ORPHA:2041
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Inflammatory abnormality of ...	ORPHA:398063
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, I...	ORPHA:37042
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hemolytic anemi...	OMIM:619487
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro...	OMIM:278000
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Broad-based gait, Failure to thrive in infancy, Microcytic anemia, Elevated circula...	OMIM:618805
Niemann-Pick Disease, Type A	Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Elevated circulating aspartate...	OMIM:257200
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent respiratory in...	OMIM:300635
Lipedema	Edema	OMIM:614103
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent...	OMIM:602390
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hypothyroidism, Abnormal ...	OMIM:619013
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Asthma, Recurrent pneum...	OMIM:619750
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn...	ORPHA:563
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomag...	OMIM:613845
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt...	ORPHA:231401
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne...	OMIM:300908
Cystic Echinococcosis	Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Elevated gamma-glutam...	ORPHA:400
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton...	OMIM:613779
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Combined Oxidative Phosphorylation Deficiency 30	Death in infancy, Elevated circulating aspartate aminotransferase concentration, Elevated circula...	OMIM:616974
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Reduced level of N-ac...	OMIM:224120
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Eczema, Thrombocytopenia, Hepatiti...	OMIM:304790
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Hemochromatosis, Type 3	Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc...	OMIM:604250
3-Methylglutaconic Aciduria, Type V	Hypospadias, Elevated circulating aspartate aminotransferase concentration, Ataxia, Microvesicula...	OMIM:610198
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatic failure, Hepatitis	ORPHA:60
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperamm...	ORPHA:79312
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase...	OMIM:617713
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ...	ORPHA:157
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Nonimmune hydrops fetalis, ...	ORPHA:367
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc...	OMIM:253700
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Red-brown urine, Tubulointersti...	ORPHA:228308
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr...	ORPHA:79303
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Cardiomegaly, Crackles, Diff...	ORPHA:99931
Mitochondrial Dna Depletion Syndrome 18	Microcytic anemia, Reduced forced vital capacity, Lacticaciduria, Falls, Failure to thrive	OMIM:618811
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Increased circulating lactate dehydrogenase concentrat...	ORPHA:86841
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic steatosis, Neutropenia,...	OMIM:617303
Immunodeficiency 104	Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Cerebral white matter atrophy, Microcephaly, Right v...	ORPHA:369840
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Decreased circulating cerul...	OMIM:616828
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomegaly, Lethargy, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hyper...	ORPHA:465508
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Respiratory insufficiency, Hyperammonemia, Lethargy, Failure t...	ORPHA:28
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Recurrent respiratory infections, Hepatomegaly, Microcephaly, Sple...	OMIM:613489
Reni Syndrome	Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Ataxia, Mesangial hy...	OMIM:617575
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Abnormal lactate dehydrogenase lev...	ORPHA:67044
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Polycystic ovaries, Hem...	OMIM:608709
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic a...	OMIM:604273
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Increased circulating lactat...	ORPHA:158061
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L...	OMIM:612840
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ...	ORPHA:905
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge...	ORPHA:824
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Nep...	OMIM:618999
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr...	OMIM:607426
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ...	ORPHA:84081
Legionnaires Disease	Abnormal lung morphology, Cough, Infectious encephalitis, Hyponatremia, Ataxia, Recurrent pharyng...	ORPHA:549
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Failure to thrive, Hypergonadotropic hypogonadism, Elevated circulati...	OMIM:617872
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin...	ORPHA:47
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Hemochromatosis, Neonatal	Nonimmune hydrops fetalis, Increased circulating ferritin concentration, Cholestasis, Hepatocellu...	OMIM:231100
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
H Syndrome	Hypertriglyceridemia, Psoriasiform dermatitis, Abnormality of the kidney, Diabetes mellitus, Micr...	ORPHA:168569
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferr...	OMIM:606069
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Autosomal Erythropoietic Protoporphyria	Eczema, Microcytic anemia, Abnormal circulating porphyrin concentration, Decreased liver function...	ORPHA:79278
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Bronchitis, Knee osteoarthr...	ORPHA:1304
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Dysmenorrhea, Increased body weight, Hepatic ...	ORPHA:264580
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto...	OMIM:209950
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Elevated circ...	ORPHA:2394
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Loss of ability to walk in early childhood, Elevated circulating creatine...	OMIM:612073
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Diabetes mellitus, Increased circulating ferritin concentration, E...	ORPHA:79230
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia	OMIM:614379
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun...	OMIM:619902
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Proteinuria, Abnormality of the k...	ORPHA:369
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creati...	ORPHA:228305
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen...	ORPHA:36234
Malaria	Respiratory distress, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Ga...	ORPHA:673
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta...	ORPHA:53035
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Macrocytic anemia, Ataxia, Thrombocytopenia, Hyperammonemia, R...	ORPHA:27
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Pleuritis, Malar rash, Ne...	OMIM:152700
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Chronic oral can...	OMIM:212050
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Waddling gait, Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Micro...	OMIM:251900
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato...	OMIM:276700
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Nodular regenerative hyperplasia of liver, ...	ORPHA:247691
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili...	ORPHA:139402
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Microcephaly, Feeding diff...	OMIM:246900
Alg1-Cdg	Chronic diarrhea, Sepsis, Cerebral atrophy, Abnormal heart morphology, Recurrent infections, Card...	ORPHA:79327
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased serum iro...	ORPHA:98870
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hepatomegaly, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Renal ...	ORPHA:289916
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Respiratory distress, Abnormal blood ion concentration, Renal cyst, Gastroint...	ORPHA:79404
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Weig...	ORPHA:100024
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Congenital hepatic fibrosis, Abnormal localization ...	ORPHA:446
Purine Nucleoside Phosphorylase Deficiency	Failure to thrive, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Hypouricemia,...	OMIM:613179
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Proteinuria, Elevated circulating creatine kinase concentration, Stage 5 chronic kidney disease, ...	OMIM:614455
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal interstitial edem...	ORPHA:91500
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato...	ORPHA:101330
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kid...	ORPHA:54251
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Dyspnea, Tachy...	OMIM:616414
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi...	OMIM:271500
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Klippel-Trénaunay Syndrome	Hepatomegaly, Microcytic anemia, Pulmonary embolism, Abnormality of the menstrual cycle, Patent d...	ORPHA:90308
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,...	OMIM:618278
Avian Influenza	Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:454836
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ...	OMIM:613953
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Portal inflammation, Elevated circulating alanine aminotransferase concentra...	OMIM:613759
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic fibrosis, Hepatic failure, Hepatic ...	OMIM:616719
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Failure to thrive, Proteinuria, Small for gestational age, Abnormality of thyroid ph...	ORPHA:1830
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Tach...	ORPHA:71275
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Hypothyroidism, Reti...	ORPHA:300298
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Increased circulating ferritin conc...	OMIM:600462
Hyperglycinemia, Lactic Acidosis, And Seizures	Microcephaly, Cerebral atrophy, Feeding difficulties, Joint contracture, Hypertrophic cardiomyopa...	OMIM:614462
Babesiosis	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Splenomegaly, Jaundice, Recurrent pharyngiti...	ORPHA:108
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Whipple Disease	Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Ataxia, Cachexia, Mediastinal lymphadenopathy...	ORPHA:3452
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ...	ORPHA:99103
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi...	ORPHA:829
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Cholestasis, Progressive Familial Intrahepatic, 5	Death in infancy, Nonimmune hydrops fetalis, Elevated circulating alpha-fetoprotein concentration...	OMIM:617049
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Jaundi...	OMIM:194380
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures	Microcephaly, Corpus callosum atrophy, Cerebral atrophy, Recurrent infections, Feeding difficulti...	OMIM:619876
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Polyhydramnios, Portal hypertension, Edema, Hydrops fetalis, Hepatosplen...	OMIM:232500
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Small for gestational age, Thrombocytopenia, Pa...	OMIM:606003
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Interstitial Lung And Liver Disease	Aminoaciduria, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cough, Hypothyroidism,...	OMIM:615486
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:613812
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Lujo Hemorrhagic Fever	Shock, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Faci...	ORPHA:319213
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Cog4-Cdg	Neonatal sepsis, Elevated hepatic transaminase, Fatal liver failure in infancy, Microcephaly, Rec...	ORPHA:263501
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
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Hypospadias, Microcytic anemia, Cryptorchidism, Failure to thrive, HbH hemoglobin	ORPHA:98791
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop...	ORPHA:83469
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, ...	OMIM:274150
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase	OMIM:162830
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb...	OMIM:208085
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c...	OMIM:614817
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Thro...	OMIM:603552
Preeclampsia	Elevated hepatic transaminase, Increased body mass index, Proteinuria, Abnormality of the kidney,...	ORPHA:275555
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Exte...	OMIM:615993
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Hyperammonemia, Cardiomyopathy, P...	OMIM:616483
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Skin rash	OMIM:619175
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Thrombocytopenia, Pat...	ORPHA:2123
Nephronophthisis	Renal insufficiency, Anemia	ORPHA:655
Orotic Aciduria	Failure to thrive, Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anem...	OMIM:258900
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Paroxysmal Nocturnal Hemoglobinuria	Pulmonary embolism, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Le...	ORPHA:447
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca...	OMIM:235200
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Elevated hepatic transaminase, Microcephaly, Episodic vomiting, Hyperam...	OMIM:615160
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia	OMIM:602079
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ...	OMIM:245900
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Fatal liver failure in infancy	ORPHA:254857
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Small for gestational age, Akinesia, Hypochromic m...	OMIM:619147
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri...	OMIM:603358
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic...	ORPHA:42
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur...	ORPHA:251004
Dehydrated Hereditary Stomatocytosis	Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassium conce...	ORPHA:3202
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Dyspnea, Abnormal lactate dehydrogenase level,...	ORPHA:54057
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Griscelli Syndrome	Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopa...	ORPHA:381
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Thrombocytopenia, Respiratory insufficiency, Lymphadenopathy, Hema...	ORPHA:69077
Immunodeficiency 32B	Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,...	OMIM:226990
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Dyspnea, Imbalanced hemoglo...	ORPHA:99867
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Chronic kidney disease, Obesity, Cholestasis, Hepatic fibrosis, Nephr...	OMIM:615630
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Autoimmune Lymphoproliferative Syndrome	Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion o...	ORPHA:3261
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas...	ORPHA:443811
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira...	ORPHA:656
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E...	ORPHA:731
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Q Fever	Respiratory distress, Abnormality of the liver, Cholecystitis, Cough, Infectious encephalitis, He...	ORPHA:781
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Hypomethioninemia, Normocytic anemia, Decreased methionine synthase activ...	OMIM:236270
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Recurrent respirator...	OMIM:607616
Pauci-Immune Glomerulonephritis	Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Granulomatosis, Cough, ...	ORPHA:93126
Cleidocranial Dysplasia, Recessive Form	Severe short stature, Brachycephaly	OMIM:216330
Coach Syndrome 3	Renal insufficiency, Ataxia, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial ...	OMIM:619113
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Right ventricular dilatation, Crohn's di...	OMIM:619705
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car...	OMIM:232220
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Protei...	OMIM:614034
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Feeding difficulties in infancy, Decreased liver function, Neonatal death, Pachygyria	OMIM:614870
Congenital Enterovirus Infection	Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops fetalis, Hyperammonemia...	ORPHA:292
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Neo...	OMIM:256300
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Asthma, Grade II vesicoureteral reflux, Cholestasi...	OMIM:619377
Schimke Immunoosseous Dysplasia	Waddling gait, Renal insufficiency, Pancytopenia, Proteinuria, Small for gestational age, Bilater...	OMIM:242900
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Dysphagia, Cardiomyopat...	ORPHA:258
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Diarrhea, Dilated cardiomyopathy, Cerebral atrophy, Abnormal cerebral white matter m...	OMIM:618321
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Hepatomegaly, Elevated circulating C-reactive protein concentra...	OMIM:308240
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated circulating C-reactive protein concentration, Prostate cancer, Neutropenia, Hepatospleno...	ORPHA:158057
Trichohepatoenteric Syndrome 1	Hepatomegaly, Failure to thrive, Hypospadias, Small for gestational age, Increased mean platelet ...	OMIM:222470
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Unsteady gait, Gait ataxia, Nephrotic syndrome,...	OMIM:254900
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Wolman Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Cachexia, Splenomegaly, Adrenal insu...	ORPHA:75233
Glutathione Peroxidase Deficiency	Heinz bodies, Compensated hemolytic anemia	OMIM:614164
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatos...	ORPHA:275761
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormali...	ORPHA:2585
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Senior-Loken Syndrome	Premature ovarian insufficiency, Ataxia, Congenital hepatic fibrosis, Chronic kidney disease, Sta...	ORPHA:3156
Ethylene Glycol Poisoning	Renal insufficiency, Gastritis, Ataxia, Abnormal pattern of respiration, Tachypnea, Hyperkalemia,...	ORPHA:31826
Gilbert Syndrome	Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia	OMIM:143500
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos...	OMIM:308990
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis...	OMIM:618963
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Sudden cardiac death, Arrhy...	ORPHA:156
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Recurrent infectio...	OMIM:301045
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetopr...	OMIM:251880
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia	ORPHA:318
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Dysmetria, Nephro...	OMIM:301006
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Gait ataxia, Hepatosplenomegaly, Progressive cerebellar ataxia, Hepatic fi...	ORPHA:466794
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly	OMIM:608898
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Hypoplasia of penis, Ataxia, Bilateral cryptorchidism, Microvesicu...	ORPHA:66634
Galactose Mutarotase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Sepsis, Cholestasis, Hyperga...	ORPHA:570422
Immunodeficiency 48	Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Pneumonia, Absence of CD8-posi...	OMIM:269840
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Fadd-Related Immunodeficiency	Ventricular septal defect, Hepatic fibrosis, Cerebral atrophy, Decreased liver function	ORPHA:306550
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, C...	ORPHA:340
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac...	OMIM:277900
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Mitochondrial Dna Depletion Syndrome 17	Low plasma citrulline, Cerebral atrophy, Hyperammonemia, Hemiballismus, Death in childhood, Hepat...	OMIM:618567
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Decreased beta-galactosidase a...	OMIM:230350
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Portal hypertension, Neonatal asphyxia, Hepatitis, Cholestasis, Hypochromic ...	ORPHA:440713
Neonatal Lupus Erythematosus	Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Heart block, Basal ganglia ca...	ORPHA:398124
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Unilateral renal agenesis, Portal hypertensi...	OMIM:216360
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Atypical Hemolytic Uremic Syndrome	Proteinuria, Abnormal lactate dehydrogenase level, Hematuria, Microangiopathic hemolytic anemia, ...	ORPHA:2134
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Elevated hepatic transaminase, Broad-based gait, Premature ovarian insu...	ORPHA:2959
Congenital Disorder Of Glycosylation, Type Ih	Death in infancy, Hepatomegaly, Edema, Abdominal distention, Patent ductus arteriosus, Diarrhea, ...	OMIM:608104
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Cryoglobulinemic Vasculitis	Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Viral hepatitis, Mediastinal lymp...	ORPHA:91138
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th...	OMIM:208540
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated circulating creatin...	OMIM:614376
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb...	ORPHA:507
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Ab...	ORPHA:229717
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Hypoargininemia, Protein avoidance, Low plasma citrulline, Hyperammonemia, Episodic ammonia intox...	OMIM:237300
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper...	OMIM:613101
Immunodeficiency 56	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo...	OMIM:615207
Galloway-Mowat Syndrome 6	Proteinuria, Decreased response to growth hormone stimulation test, Nephrotic syndrome, Focal seg...	OMIM:618347
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Cholestasis, Obesity, Tubulointerstitial nephritis, Hepatic fibro...	OMIM:616629
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibro...	OMIM:602579
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Aceruloplasminemia	Refractory anemia, Abnormal circulating enzyme concentration or activity, Decreased circulating c...	ORPHA:48818
Syndromic Diarrhea	Hepatomegaly, Gastritis, Small for gestational age, Increased mean platelet volume, Splenomegaly,...	ORPHA:84064
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Proteinuria, Ataxia, Cryptorchi...	ORPHA:90321
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepa...	ORPHA:541423
Mitochondrial Dna Depletion Syndrome 19	Hydrocele testis, Hypospadias, Microcytic anemia	OMIM:618972
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Probst bundles, Tricuspid regurgitation, Patent ductus arteriosus, ...	OMIM:612863
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno...	OMIM:259710
Gombo Syndrome	Microphthalmia	OMIM:233270
Lymphatic Filariasis	Lymphadenitis, Abnormal lung morphology, Knee osteoarthritis, Cough, Lymphangiectasis, Abnormalit...	ORPHA:2035
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Lesch-Nyhan Syndrome	Renal insufficiency, Gout, Hematuria, Hyperuricemia, Anemia	ORPHA:510
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Poor appetite, Jaundice, Fulminant hepatitis, Hepati...	OMIM:618549
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Failure to thrive, Eczema, Microcytic anemia	OMIM:612379
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circu...	OMIM:300972
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Cryptorchidism...	OMIM:614857
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom...	OMIM:259720
Omenn Syndrome	Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis...	ORPHA:39041
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cac...	ORPHA:298
Cholesteryl Ester Storage Disease	Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Diarrhea, Cirrho...	ORPHA:75234
Acute Disseminated Encephalomyelitis	Viral hepatitis, Hypointensity of cerebral white matter on MRI, Disseminated viral infection, Sev...	ORPHA:83597
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch...	OMIM:602114
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Eczema, Porphyrinuria	OMIM:176090
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Hypomethioninemia, Decreased methionine synthase activity, Megaloblastic anemia, Hyperhomocystine...	OMIM:250940
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Chronic oral candidiasis, Failure to thrive, Absence of lymph nod...	OMIM:308230
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Spastic gait, Hyperammonemia, Dysmetria, Hyperornithinemia, Dysdiadochokinesis, Dec...	OMIM:238970
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Elevated circulating aspartate aminotransferase concentration, Abdominal pain, Elevated circulati...	OMIM:311250
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal circulating enzyme concentration or activity, Congestive heart failure, Abnormal heart m...	ORPHA:70472
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly	OMIM:312500
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepatic fibrosis...	ORPHA:171
Combined Oxidative Phosphorylation Deficiency 42	Death in infancy, Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration, ...	OMIM:618839
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Tubuloint...	ORPHA:289390
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Unusual skin infection, Facial palsy, Abnormal basal ganglia morphology, Abn...	ORPHA:68
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic...	OMIM:614377
Combined Oxidative Phosphorylation Deficiency 40	Death in infancy, Nonimmune hydrops fetalis, Elevated circulating creatine kinase concentration, ...	OMIM:618835
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Eczem...	OMIM:617780
Acquired Purpura Fulminans	Shock, Elevated circulating C-reactive protein concentration, Sepsis, Intracranial hemorrhage, Pr...	ORPHA:49566
Laurence-Moon Syndrome	Renal insufficiency, Hypoplasia of penis, Ataxia, Congenital hepatic fibrosis, Cryptorchidism, Ob...	ORPHA:2377
Moyamoya Disease 1	Inflammatory arteriopathy, Telangiectasia	OMIM:252350
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Patent Ductus Venosus	Hepatic steatosis, Hyperammonemia, Congenital portosystemic venous shunt, Hypergalactosemia, Decr...	OMIM:601466
Wolcott-Rallison Syndrome	Acute hepatic failure, Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Abno...	ORPHA:1667
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:620010
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy, Choreoathetosis	OMIM:257970
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevate...	OMIM:619386
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Abnormali...	ORPHA:2552
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran...	OMIM:617093
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Membranoproliferative glomerulone...	OMIM:619525
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Cholelithiasis, Microcephaly, Patent ductus arteriosus, Sepsis, Ce...	OMIM:614886
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Skin rash, Elevated circulating cre...	OMIM:610377
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, Abnormal ci...	ORPHA:79277
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis...	ORPHA:169160
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Ata...	OMIM:615816
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Felty Syndrome	Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur...	ORPHA:47612
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Reversible Cerebral Vasoconstriction Syndrome	Transient ischemic attack, Cerebral hemorrhage, Subarachnoid hemorrhage, Intraventricular hemorrh...	ORPHA:284388
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Oliguria, Weight loss, Central ...	ORPHA:514
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Cachexia, Gait ataxia, Weight loss, Aminoaciduria, Proximal tubulopathy, Fa...	OMIM:612075
Maternal Uniparental Disomy Of Chromosome X	Predominantly lower limb lymphedema, Camptodactyly of finger, Microcephaly, Congestive heart fail...	ORPHA:261519
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo...	ORPHA:911
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Vomiting, Hepatic steatosis, Cerebral edema	OMIM:201450
Galloway-Mowat Syndrome 5	Ataxia, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-...	OMIM:617731
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Castleman Disease	Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive...	ORPHA:160
Tularemia	Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyng...	ORPHA:3392
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Death in infancy, Hyperglutaminemia, Hyperprolinemia, Abnormal cer...	OMIM:616299
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Osteomyelitis, Elevated circulating C-reactive protein concentration, Hypochromic m...	OMIM:619423
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Cerebral atrophy	ORPHA:369847
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Recurrent viral infections, Secretory diar...	OMIM:619573
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Acute hepatic failure, E...	ORPHA:71212
Srd5A3-Cdg	Elevated hepatic transaminase, Ataxia, Decreased response to growth hormone stimulation test, Mic...	ORPHA:324737
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Prote...	OMIM:212065
Pseudo-Torch Syndrome 3	Proteinuria, Apnea, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lym...	OMIM:618886
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Gastrointestinal inflammation, Conjunctivitis, Cough, Neutropenia, Abnormal...	ORPHA:95455
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Hepatomegaly, Elevated hepatic transaminase, Recurrent infections	OMIM:260400
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria	ORPHA:79238
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Glomerulopathy, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Hy...	ORPHA:2169
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Eleva...	OMIM:611881
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619232
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Bradykinesia, Steppage gait, Incr...	OMIM:613280
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Atrophic gastritis, Ch...	OMIM:615846
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ...	OMIM:300751
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight...	ORPHA:890
Systemic Lupus Erythematosus 16	Lupus nephritis	OMIM:614420
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb...	OMIM:613404
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated creatine kinase after exercise, Microcephal...	ORPHA:159
Aspergillosis	Sinusitis, Cough, Neutropenia, Infectious encephalitis, Abnormality of the kidney, Chronic pulmon...	ORPHA:1163
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Decreased liver function, Microcephaly	ORPHA:67048
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension	OMIM:616589
Liver Failure, Infantile, Transient	Acute hepatic failure, Death in infancy, Hepatomegaly, Elevated hepatic transaminase, Feeding dif...	OMIM:613070
Kcnq2-Related Epileptic Encephalopathy	Abnormal globus pallidus morphology, Cerebral atrophy, Feeding difficulties, Abnormal cerebral wh...	ORPHA:439218
Thyrocerebrorenal Syndrome	Renal insufficiency, Euthyroid goiter, Nonprogressive cerebellar ataxia, Nephritis, Thrombocytopenia	ORPHA:3327
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Ar...	ORPHA:397596
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Hepatomegaly, Skeletal muscle atrophy, Microcephaly, Feeding difficulties in in...	OMIM:252010
Bardet-Biedl Syndrome 10	Renal insufficiency, Hypogonadism, Obesity, Renal cyst	OMIM:615987
C1Q Deficiency 1	Membranoproliferative glomerulonephritis	OMIM:613652
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Dysp...	ORPHA:98826
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat...	ORPHA:39812
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Mccune-Albright Syndrome	Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wasting, Renal tubular dysfunctio...	ORPHA:562
Blue Rubber Bleb Nevus	Skin rash, Microcytic anemia	ORPHA:1059
Alg3-Cdg	Abnormal circulating enzyme concentration or activity, Cerebral white matter atrophy, Microcephal...	ORPHA:79321
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo...	OMIM:619155
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Aredyld Syndrome	Hepatomegaly, Cachexia, Splenomegaly, Abnormality of the ureter, Type II diabetes mellitus, Type ...	ORPHA:1133
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Choreoathetosis, Hypochromic anemia, Microcytic anemia	OMIM:618451
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero...	OMIM:617394
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephro...	OMIM:616084
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Hepatomegaly, Polyhydramnios, Feeding difficulties, Cardiomyopathy, Myopathy, S...	OMIM:614922
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro...	OMIM:618348
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Edema, Pulmonary edema	OMIM:178400
Cronkhite-Canada Syndrome	Splenomegaly, Hepatomegaly, Cachexia, Anemia	ORPHA:2930
Acatalasemia	Severe periodontitis, Reduced catalase level, Microcytic anemia, Type II diabetes mellitus, Type ...	ORPHA:926
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lo...	OMIM:615415
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Respiratory insufficiency, Hematuria, Arthritis...	ORPHA:375
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ov...	ORPHA:280356
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Stomatitis, Chronic pancreati...	OMIM:232240
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Recurrent respirat...	OMIM:618495
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Chronic bronchitis, Cough, Splenomegaly, Dyspnea, Chronic pulmonar...	OMIM:613490
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Farber Disease	Elevated hepatic transaminase, Respiratory distress, Failure to thrive, Abnormal circulating enzy...	ORPHA:333
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C...	OMIM:619802
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash...	ORPHA:572
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Edema	OMIM:616570
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Decreased circulating cortisol level, Lethargy, Hashimoto thyroiditis, Hyponat...	ORPHA:199299
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Hypogonadotropic hypogonadism, Microcytic anemia, Cryptorchidism, Insulin-resistant diabetes mell...	ORPHA:293967
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb...	OMIM:300853
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein c...	ORPHA:91547
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia, Anemia	ORPHA:2668
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ...	OMIM:610199
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Dec...	OMIM:619126
Hypocomplementemic Urticarial Vasculitis	Uveitis, Conjunctivitis, Cough, Emphysema, Glomerulopathy, Hepatomegaly, Ataxia, Lymphadenopathy,...	ORPHA:36412
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin...	OMIM:214900
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatome...	ORPHA:30391
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Elevated circulating C-reactive protein concentration, Asthma, Pleural thickenin...	OMIM:619632
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Ataxia, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Sideroblastic anemia, Respiratory distress, Hepatomegaly, Respirat...	OMIM:613561
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Ataxia, Splenomegaly, Hyperprolinemia, Hyperalaninem...	OMIM:619046
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Increase...	OMIM:618892
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc...	OMIM:224100
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Birk-Aharoni Syndrome	Duplicated collecting system, Macrocytic anemia, Inability to walk, Cryptorchidism, Micropenis, F...	OMIM:620071
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Maple Syrup Urine Disease	Elevated circulating branched chain amino acid concentration, Feeding difficulties in infancy, Vo...	OMIM:248600
Retinitis Pigmentosa 89	Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly	OMIM:618955
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, Autoimmune t...	ORPHA:227990
Dopamine Beta-Hydroxylase Deficiency	Dyspnea, Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia...	ORPHA:230
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Elevated circulating C-reactive protein concentration, Right ventricular failure, ...	ORPHA:70591
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Increa...	OMIM:261000
Combined Oxidative Phosphorylation Deficiency 1	Fulminant hepatic failure, Hepatomegaly, Microcephaly, Cholestasis, Feeding difficulties, Basal g...	OMIM:609060
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79239
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr...	OMIM:607594
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Weight loss, Leukopenia,...	ORPHA:33355
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent...	ORPHA:79322
Formiminoglutamic Aciduria	Abnormal circulating enzyme concentration or activity, Megaloblastic anemia, Abnormal circulating...	ORPHA:51208
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Severe periodontitis, Ataxia, Sma...	ORPHA:99843
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Renal Hypoplasia, Bilateral	Hyponatremia, Neonatal respiratory distress, Failure to thrive, Proteinuria, Small for gestationa...	ORPHA:97362
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Leukopenia, Hash...	ORPHA:227982
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Loss of ambulation, Thrombocytopenia	OMIM:615010
Myh9-Related Disease	Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria...	ORPHA:182050
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno...	ORPHA:91139
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Positive ferric chloride test, Aminoaciduria, Elevated urinary formiminoglu...	OMIM:229100
Goodpasture Syndrome	Nodular pattern on pulmonary HRCT, Crackles, Tachypnea, Cough, Restrictive ventilatory defect, Gl...	OMIM:233450
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Hyponatremia, Nausea and vomiting, Abnormal cerebral white matter morphology...	ORPHA:83601
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:232400
Camos Syndrome	Nephrotic syndrome, Renal insufficiency, Ataxia	ORPHA:83472
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Failure to thrive, Eczema, Pneumonia, Splenomegaly, Asthma, L...	OMIM:607271
Alport Syndrome	Mesangial hypercellularity, Cough, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 depositi...	ORPHA:63
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase	OMIM:617068
Angiostrongyliasis	Projectile vomiting, Poor appetite, Abdominal pain, Unusual CNS infection, Vomiting, Constipation...	ORPHA:74
Pediatric Systemic Lupus Erythematosus	Myositis, Leukopenia, Nephritis, Lymphadenopathy, Nephrotic syndrome, Microangiopathic hemolytic ...	ORPHA:93552
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Myocarditis, Hepatic failure, Dysphagia	ORPHA:2724
Myasthenia Gravis	Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Dyspnea, Primary adrenal insu...	ORPHA:589
Boutonneuse Fever	Elevated hepatic transaminase, Renal insufficiency, Maculopapular exanthema, Skin rash, Cervical ...	ORPHA:83313
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kin...	OMIM:201475
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Di...	OMIM:235555
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Congenital Atransferrinemia	Anemia	ORPHA:1195
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg...	OMIM:618935
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Hepatocellular carcinoma, Conjugated hyperbilirubin...	ORPHA:186
Glioblastoma	Abnormal cerebral white matter morphology, Cerebral edema, Abnormal corpus callosum morphology	ORPHA:360
Nephronophthisis-Like Nephropathy 2	Recurrent respiratory infections, Renal insufficiency, Polyuria, Elevated circulating creatinine ...	OMIM:619468
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Hepatic fibrosis, Cough, Hypothyroidism, Accessory spleen, Portal hyper...	OMIM:620005
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Respiratory tract infection, Hyperlipidemi...	ORPHA:567546
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Neuroendocrine Tumor Of Stomach	Abnormal pulmonary valve cusp morphology, Anorexia, Poor appetite, Lack of bowel sounds, Bloody d...	ORPHA:100075
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Maculopapular exanthema, Skin ...	ORPHA:540
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, A...	ORPHA:1454
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619662
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Hydroureter, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Diabetes...	OMIM:598500
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypo...	OMIM:613989
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Ab...	OMIM:620282
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Crome Syndrome	Renal tubular epithelial necrosis	OMIM:218900
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Bro...	OMIM:619381
Muckle-Wells Syndrome	Renal insufficiency, Maculopapular exanthema, Elevated circulating C-reactive protein concentrati...	OMIM:191900
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Proteinuria, Thrombocytopenia, Leukocytosis, ...	ORPHA:90060
Hereditary Hemorrhagic Telangiectasia	Epistaxis, Portal hypertension, Microcytic anemia, Pulmonary embolism, Nephrolithiasis, Hematuria...	ORPHA:774
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Ataxia, Dyspnea, Tachypnea, Stage 5 chronic kidney disease, ...	OMIM:243910
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease, Obesity	OMIM:615995
Barth Syndrome	Cyclic neutropenia, Abnormal mitochondrial morphology, Hypochromic microcytic anemia, 3-Methylglu...	OMIM:302060
Alstrom Syndrome	Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h...	OMIM:203800
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ...	ORPHA:60033
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper...	OMIM:618641
Developmental And Epileptic Encephalopathy 75	Feeding difficulties in infancy, Cardiomyopathy, Secondary microcephaly, Decreased liver function...	OMIM:618437
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Ad...	OMIM:617053
Citrullinemia, Classic	Hepatomegaly, Protein avoidance, Hyperglutaminemia, Cerebral edema, Hyperammonemia, Episodic ammo...	OMIM:215700
Atransferrinemia	Abnormality of the liver, Hypochromic anemia, Atransferrinemia	OMIM:209300
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Nonarteriosclerotic cerebral calcification, Cirrhosis, Portal hypertension, Hepatic failure	OMIM:210050
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Lymphadeno...	ORPHA:536
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Skin rash, Elevated circulating C-reactive protein concentration...	OMIM:616050
Familial Acute Necrotizing Encephalopathy	Abnormal putamen morphology, Choroid hemorrhage, Vomiting, Cerebral edema	ORPHA:88619
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, P...	ORPHA:436159
Herpes Simplex Virus Encephalitis	Hyponatremia, Cerebral edema, Elevated circulating C-reactive protein concentration, Nausea and v...	ORPHA:1930
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Hyp...	ORPHA:14
Japanese Encephalitis	Hyponatremia, Skeletal muscle atrophy, Abnormal substantia nigra morphology, Facial palsy, Anorex...	ORPHA:79139
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Functional abnormality of the bladder, T lymphocytopenia, Infectious encephalitis, Autoimmune thr...	ORPHA:391487
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj...	ORPHA:567983
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia...	OMIM:267700
Nephrosialidosis	Renal insufficiency, Bone-marrow foam cells, Nephrotic syndrome, Nephropathy, Ascites	OMIM:256150
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Stage 5 chronic kidney disease, Hyper...	OMIM:251000
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-react...	OMIM:613011
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M...	OMIM:256040
Idiopathic Achalasia	Bronchitis, Wheezing, Weight loss, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia	ORPHA:930
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, M...	ORPHA:347
Congenital Disorder Of Glycosylation, Type Iih	Ataxia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating creat...	OMIM:611182
Complement Component 4A Deficiency	Glomerulonephritis	OMIM:614380
Aceruloplasminemia	Diabetes mellitus, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Ac...	OMIM:604290
Sandhoff Disease	Hepatomegaly, Recurrent respiratory infections, Ataxia, Splenomegaly, Failure to thrive	ORPHA:796
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Pancytopenia, Ataxia, Portal hypertension, Hepatic fibrosis, Bone marrow hypocellularity, Abnorma...	OMIM:617341
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Functional intestinal obstruction, Tricuspid stenosis, Edema, Righ...	ORPHA:100078
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Death in infancy, Elevated hepatic transaminase, Polyhydramnios, Conjugated hyp...	OMIM:617156
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Feeding difficulties...	OMIM:207900
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis, Reduced haptoglobin level	OMIM:612126
Ménétrier Disease	Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypoproteinemia, Giant hypertrophic ...	ORPHA:2494
Nanophthalmos	Microphthalmia	ORPHA:35612
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa...	ORPHA:79124
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,...	ORPHA:79319
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Decreased methionine synthase activity, Skin ...	OMIM:277380
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi...	OMIM:615513
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Dermatitis Herpetiformis	Eczema, Microcytic anemia	ORPHA:1656
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Compl...	OMIM:557000
Scrub Typhus	Anterior uveitis, Renal insufficiency, Skin rash, Splenomegaly, Dyspnea, Myocarditis, Lymphadenop...	ORPHA:83317
Infantile Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuo...	OMIM:269920
Ataxia-Pancytopenia Syndrome	Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni...	OMIM:159550
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin...	ORPHA:48435
Shigellosis	Abnormal blood ion concentration, Uveitis, Conjunctivitis, Acute colitis, Hyponatremia, Abscess, ...	ORPHA:810
Nephronophthisis 16	Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Cholestasis, Perip...	OMIM:615382
Melioidosis	Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti...	ORPHA:31202
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,...	OMIM:611762
Spinocerebellar Ataxia 48	Ataxia, Urinary incontinence, Cachexia, Dysmetria, Gait ataxia	OMIM:618093
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia...	OMIM:620085
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Diabetes mellitus, Recurrent skin infections, Abnormality of the kidney, Decreased serum iron, Ov...	ORPHA:391372
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N...	OMIM:105200
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hyperlipidemia, Delayed puberty, Nephro...	OMIM:232200
Bardet-Biedl Syndrome 14	Renal insufficiency, Obesity	OMIM:615991
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Failure to thrive in infancy, Porta...	OMIM:613385
Osteopetrosis, Autosomal Recessive 3	Distal renal tubular acidosis, Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacteria...	ORPHA:276
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Neutropenia, Infectious encephalitis, Enteroviral hepatitis, E...	OMIM:300755
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Uveitis, Nephrotic syndrome, Restrictive ven...	ORPHA:575
Diencephalic Syndrome	Abnormality of the hypothalamus-pituitary axis, Long penis, Cachexia, Decreased body weight	ORPHA:1672
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab...	ORPHA:85443
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cryptorchidism, Micropenis, Fai...	OMIM:613861
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Feeding difficulties in infancy, Congestive heart failure, Rhabdomyolysi...	ORPHA:746
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent respiratory infections, Microcephaly, Secundum atrial septal defect, Feeding difficulti...	OMIM:619758
Nanophthalmos 4	Microphthalmia	OMIM:615972
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creatine kinase con...	OMIM:608779
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Feeding difficulties in infancy, Dilated cardiomyopathy, Hepatic necro...	OMIM:231530
Joubert Syndrome 9	Apnea, Hepatic fibrosis, Stage 5 chronic kidney disease, Episodic tachypnea	OMIM:612285
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Vomiting, Hepatomega...	ORPHA:26791
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Diabetes mellitu...	ORPHA:79147
Hemophagocytic Lymphohistiocytosis, Familial, 2	Leukopenia, Hypoalbuminemia, Infectious encephalitis, Hyponatremia, Hepatomegaly, Ataxia, Hepatos...	OMIM:603553
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Hyperalaninemia, Cerebral infarct, Myopathy	ORPHA:254881
Lead Poisoning	Decreased HDL cholesterol concentration, Abnormal T cell morphology, Tubulointerstitial nephritis...	ORPHA:330015
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Follicular hyperp...	OMIM:614470
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Congenital Disorder Of Glycosylation, Type Ir	Chronic constipation, Gastroesophageal reflux, Decreased liver function, Recurrent ear infections	OMIM:614507
Cinca Syndrome	Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve...	OMIM:607115
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Decreased methionine synthase activity...	OMIM:277410
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4	Cerebral edema	OMIM:614212
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia...	OMIM:619164
Ceroid storage disease	Hepatic failure	OMIM:214200
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Anemia	ORPHA:37748
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Cerebral white matter atrophy, Leukoencephalopathy, Death in childhood, Cerebral edema	OMIM:617186
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Diabetes mellitus, Ataxia, Thiamine-responsive megaloblastic anemia, Crypto...	OMIM:249270
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ...	ORPHA:97287
Dural Sinus Malformation	Nausea and vomiting, Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdura...	ORPHA:97339
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Reticulocytosis, Ataxia, Exercise-induced myoglobinuria, E...	OMIM:300653
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Sepsis In Premature Infants	Hepatomegaly, Small for gestational age, Abnormal mucociliary clearance, Elevated circulating C-r...	ORPHA:90051
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Respiratory insufficiency	ORPHA:139406
Melas	Hypoparathyroidism, Diabetes mellitus, Proteinuria, Ataxia, Hypogonadotropic hypogonadism, Focal ...	ORPHA:550
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration	OMIM:618015
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Dyspnea, Increased mean corpus...	ORPHA:90041
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Recurrent respiratory infections, Hypospadias, Gastritis, Megaloblastic anemia, Abnormal erythroc...	ORPHA:2575
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl...	ORPHA:29073
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Hypochromic microcytic anemia, Dysmetria, Dysdiadochokinesis, Nonprogressiv...	OMIM:301310
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Portal hypertension, Hypersplenism, Thrombocytopenia, Leuk...	ORPHA:98850
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice...	ORPHA:858
Aapoaiv Amyloidosis	Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep...	ORPHA:439232
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Obesity, Nephrotic syndrome, H...	ORPHA:110
Acute Promyelocytic Leukemia	Pancytopenia, Metrorrhagia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Thrombocyto...	ORPHA:520
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat...	ORPHA:276621
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Pulmonary Blastoma	Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough	ORPHA:64741
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hypertriglyceridemia, Edema, Hepatic failure	OMIM:177000
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Failure to...	OMIM:615438
Holocarboxylase Synthetase Deficiency	Respiratory distress, Ataxia, Eczema, Tachypnea, Hyperammonemia, Keratoconjunctivitis, Weight los...	ORPHA:79242
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt...	ORPHA:3226
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi...	ORPHA:228426
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosph...	ORPHA:417
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Pneumonia, Skin rash, Autoimmune thromboc...	ORPHA:1855
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Weight loss, Elevated carcinoembryonic antigen level, Adre...	ORPHA:100083
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Hemolytic...	ORPHA:2968
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Rhabdomyolysis, Dehydration, Vomiting, Decreased liver function, Neonatal death	OMIM:602199
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Hepatomegaly, Recurrent respiratory infections, Ataxia, Cholangitis, Failur...	OMIM:266920
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Ataxi...	ORPHA:713
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele...	ORPHA:53693
Dent Disease	Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin...	ORPHA:1652
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Skin rash, Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic acid...	ORPHA:79284
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Weight loss, Arthritis, Infec...	ORPHA:42642
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Respiratory paralysis, E...	OMIM:121300
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ataxia, Diabetes mellitus, Diabetes insipi...	OMIM:222300
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Burkitt Lymphoma	Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Gitelman Syndrome	Respiratory distress, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubul...	ORPHA:358
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hyperammonemia	ORPHA:664
Free Sialic Acid Storage Disease	Hepatomegaly, Recurrent respiratory infections, Proteinuria, Ataxia, Failure to thrive in infancy...	ORPHA:834
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Premature ovarian insufficiency...	OMIM:240300
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Elevat...	OMIM:614921
Systemic Capillary Leak Syndrome	Renal insufficiency, Pericarditis, Pulmonary edema, Rhinorrhea, Myocarditis, Leukocytosis, Oligur...	ORPHA:188
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia	OMIM:187800
Alg9-Cdg	Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hepatic cysts, Hyp...	ORPHA:79328
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Failure to thr...	ORPHA:1572
Uremic Pruritus	Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec...	ORPHA:94059
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:86893
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Cachexia, Respiratory insufficiency	ORPHA:93941
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Prolidase Deficiency	Hepatomegaly, Chronic lung disease, Elevated circulating aspartate aminotransferase concentration...	OMIM:170100
Frasier Syndrome	Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca...	OMIM:136680
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Ataxia, Type II diabetes mellitus, Abnormal cir...	ORPHA:225
Immunodeficiency 102	Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Nodular regenerative hyperp...	OMIM:301082
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Failure to thrive, ...	OMIM:615512
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab...	OMIM:618806
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Death in infancy, Hepatomegaly, Ventricular septal defect, Polyhydramnios, Lymphedema, Splenomega...	OMIM:235255
Acute Liver Failure	Gastrointestinal hemorrhage, Shock, Elevated hepatic transaminase, Jaundice, Diarrhea, Hepatitis,...	ORPHA:90062
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Intestinal obstruction,...	ORPHA:131
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Atopic dermatitis, Hypochromic microcytic anemia, R...	ORPHA:3240
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased response to growt...	ORPHA:811
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Ataxia, Elevated circulating creatine kinase concentration, Cachexia, Methylmalonic aciduria, Ami...	ORPHA:1933
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive	ORPHA:172
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Cerebral edema	OMIM:608033
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Increased mean corpuscular vo...	OMIM:613839
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a...	ORPHA:35858
Plummer-Vinson Syndrome	Iron deficiency anemia, Decreased circulating ferritin concentration, Cheilitis, Hypochromic micr...	ORPHA:54028
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k...	ORPHA:79408
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Citrullinemia Type I	Torticollis, Hyperammonemia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Elevated pl...	ORPHA:247525
Trichohepatoenteric Syndrome 2	Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Colitis, Cirrho...	OMIM:614602
Cholestasis, Progressive Familial Intrahepatic, 4	Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure	OMIM:615878
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Dyspnea, Tach...	OMIM:239200
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Hydrone...	OMIM:154230
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Decreased methionine synthase act...	OMIM:277400
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congest...	ORPHA:423
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Absence of lymph node germina...	ORPHA:277
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit...	OMIM:137940
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Renal insufficiency, Polycystic liver disease, Proteinuria, Pan...	OMIM:208500
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Patent ductus art...	OMIM:251290
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Gastrointestinal dysmotility, Encephalomala...	ORPHA:506
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Proteinuria, Ataxia, Elevated circulating C-reactive p...	ORPHA:355
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Colitis, Coug...	ORPHA:3260
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Hepatocellular ...	OMIM:256810
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Increased circulating procalcitonin concentration, Neutrophilia, Diabetes m...	ORPHA:36238
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Recurrent upper respiratory tra...	OMIM:209920
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c...	OMIM:614576
Bardet-Biedl Syndrome 19	Renal insufficiency, External genital hypoplasia, Patent ductus arteriosus, Renal hypoplasia, Obe...	OMIM:615996
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria, Megaloblastic anemia	OMIM:261100
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T...	OMIM:618982
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Ataxia, Splenomegaly, Low alkaline phosphatase, Decreased serum zinc, Hypogonadism,...	OMIM:201100
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Folate Malabsorption, Hereditary	Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Failure to th...	OMIM:229050
Wt Limb-Blood Syndrome	Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia	OMIM:194350
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr...	OMIM:616307
Galactosemia I	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c...	OMIM:230400
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic oral candidi...	OMIM:615387
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis, Increased erythrocyte prot...	OMIM:300752
Familial Benign Copper Deficiency	Acne, Decreased circulating copper concentration, Anemia	ORPHA:1551
Phosphoglycerate Dehydrogenase Deficiency	Reduced 3-phosphoglycerate dehydrogenase activity, Decreased testicular size, Thrombocytopenia, M...	OMIM:601815
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Camurati-Engelmann Disease	Waddling gait, Hepatomegaly, Ataxia, Cachexia, Splenomegaly, Leukopenia, Urinary retention, Hypog...	ORPHA:1328
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Broad-based gait, Cachexia, Abnormality of the sp...	ORPHA:2072
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polysplenia, Extrapulm...	OMIM:200995
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Feeding difficulties, Prolonged prothrombin time, Hypoalbuminemia,...	OMIM:618329
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Ataxia, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Weight...	ORPHA:391
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Infectious encepha...	ORPHA:73263
Renpenning Syndrome	Diabetes mellitus, Hypospadias, Decreased testicular size, Cachexia	ORPHA:3242
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu...	OMIM:618849
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Ataxia, Eczema, Thyroiditis, Weight loss, Iron ...	OMIM:212750
Hereditary Pheochromocytoma-Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevat...	ORPHA:29072
Sarcoidosis	Increased T cell count, Abnormal lung morphology, Uveitis, Nephrocalcinosis, Tubulointerstitial n...	ORPHA:797
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ...	OMIM:269200
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Migraine, Familial Hemiplegic, 2	Nausea, Cerebral edema	OMIM:602481
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Elevated circulating creatine kinase concentration, Dyspnea, Leukopenia, Di...	OMIM:255125
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Microcephaly, Splenomegaly...	OMIM:608013
Leptospirosis	Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, He...	ORPHA:509
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Sinusitis, Skin rash...	OMIM:617591
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Renal insufficiency, Decreased circulating cortisol level, Decre...	ORPHA:95409
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Ataxia, Epistaxis, Abnormality of neutrophi...	ORPHA:33226
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade...	OMIM:240500
Alveolar Echinococcosis	Liver abscess, Cholangitis, Renal cyst, Cough, Ataxia, Portal hypertension, Abnormal mesentery mo...	ORPHA:284
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Elevated creatine kinase after exercise, Reduced circulating aldolase concentra...	ORPHA:57
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Abnormal circulating glycine concentration, Abnormal ...	ORPHA:79096
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, Dy...	ORPHA:133
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Elevated circulat...	ORPHA:79126
Cog2-Cdg	Diffuse cerebral atrophy, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:435934
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Low plasma citrulline, Elevated circulating alanine aminotransferase concentration,...	OMIM:261680
Combined Oxidative Phosphorylation Deficiency 46	Decreased liver function	OMIM:618952
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Abnormal pleura morphology, Splenomegaly, Hepatitis, Mucopolysa...	ORPHA:584
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Absence of lymph node germinal center, Autoimmune thr...	OMIM:608184
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Peroxisome Biogenesis Disorder 7B	Decreased liver function	OMIM:614873
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
C1Q Deficiency 2	Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Atelectasi...	OMIM:620321
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Hypothyroidism, Pneumothorax, Renal cyst, Nep...	ORPHA:445038
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Ataxia, Cachexia, Weight loss	OMIM:613662
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Porphyria Variegata	Hyponatremia, Elevated hepatic transaminase, Neurogenic bladder, Abnormal circulating enzyme conc...	ORPHA:79473
Joubert Syndrome 6	Ataxia, Breathing dysregulation, Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic...	OMIM:610688
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, Absence of l...	OMIM:619924
Lysinuric Protein Intolerance	Hepatomegaly, Failure to thrive, Hypolysinemia, Increased circulating ferritin concentration, Thr...	OMIM:222700
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Reticulocytopenia, M...	OMIM:275350
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh...	ORPHA:545
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis...	ORPHA:183675
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Abnormal circulating enzyme concentration or activity, Respiratory insufficiency d...	ORPHA:2590
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Leukopenia, Interstitial pn...	OMIM:127550
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Anorexia, Abdominal pain, Meningitis, Recurrent ph...	ORPHA:397
Erythrocytosis, Familial, 1	Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion...	OMIM:133100
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Riboflavin Transporter Deficiency	Ataxia, Cachexia, Respiratory insufficiency, Hypogonadism, Diabetes insipidus	ORPHA:97229
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr...	ORPHA:90117
Lesch-Nyhan Syndrome	Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Choreoathetosis, Hyperu...	OMIM:300322
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Gait disturbance, Respiratory insufficiency	ORPHA:157973
Combined Oxidative Phosphorylation Deficiency 18	Macrocytic anemia, Increased mitochondrial number, Methylmalonic aciduria, Dysmetria, Hypersegmen...	OMIM:615578
Somatostatinoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma...	ORPHA:97283
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias, Apnea, Small for gestational age, Bronchiectasis, Hyperammonemia, Respiratory insuff...	OMIM:618253
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Recurrent respiratory infections, Recurrent ski...	OMIM:620210
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Failure to thrive, Proteinuria, Premature ova...	OMIM:610965
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Elevated circulating creatinine concentration, Decreased ...	OMIM:223900
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g...	ORPHA:84090
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Renal tubu...	ORPHA:213
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Apnea, Elevated circulating creatine kinase concentration, Cardiomegaly, Ma...	OMIM:608836
Fanconi Anemia, Complementation Group F	Failure to thrive, Pneumonia, Decreased response to growth hormone stimulation test, Thrombocytop...	OMIM:603467
Pontocerebellar Hypoplasia, Type 13	Recurrent respiratory infections, Edema, Microcephaly, Feeding difficulties, Constipation, Decrea...	OMIM:618606
Copper Deficiency, Familial Benign	Failure to thrive, Decreased circulating copper concentration, Anemia, Seborrheic dermatitis	OMIM:121270
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Acute leukemia, Hypogonadism, Tes...	ORPHA:281090
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot...	OMIM:601457
Cold Agglutinin Disease	Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,...	ORPHA:293173
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Eisenmenger Syndrome	Respiratory distress, Elevated circulating C-reactive protein concentration, Aortopulmonary windo...	ORPHA:97214
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Tachypnea, Spastic gait, Hepatiti...	ORPHA:415
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Cryptococcosis	Sepsis, Limb muscle weakness, Vomiting, Cirrhosis, Pleural effusion, Meningitis, Cerebral cortica...	ORPHA:1546
Systemic Sclerosis	Renal insufficiency, Pericarditis, Proteinuria, Elevated circulating creatine kinase concentratio...	ORPHA:90291
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Moynahan Syndrome	Hypogonadism, Cachexia	ORPHA:2574
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis, Abnormality of the urinary system	OMIM:213010
Tarp Syndrome	Broad-based gait, Extramedullary hematopoiesis, Apnea, Cryptorchidism, Horseshoe kidney, Pulmonar...	ORPHA:2886
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar...	ORPHA:209919
Prune Belly Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Multicystic kidney dysplasi...	ORPHA:2970
Dent Disease 2	Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera...	OMIM:300555
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Hypochromic microcytic anemia, Hepatosplenomegaly, ...	ORPHA:96123
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Leukopenia, Cough, Lethargy, Lym...	ORPHA:319218
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c...	OMIM:615482
Fumarase Deficiency	Necrotizing enterocolitis, Decreased fumarate hydratase activity, Polyhydramnios, Microcephaly, I...	OMIM:606812
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Lymphadenitis, T lymphocytopenia, Leukopenia, Neutropenia, Chronic p...	OMIM:618986
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha...	OMIM:613095
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Eosinophilia, Sinusitis, Recurrent in...	ORPHA:183
Sialidosis Type 2	Hepatomegaly, Ataxia, Splenomegaly, Dyspnea, Nephropathy, Ascites	ORPHA:87876
Ciliary Dyskinesia, Primary, 14	Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Absent inner d...	OMIM:613807
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Hypospadias, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypochromic micr...	OMIM:301040
Transcobalamin Deficiency	Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop...	ORPHA:859
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ...	OMIM:612541
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Pulmonary embolism, Hypothyroidism, Iron deficiency anemia, Hypoalbuminemia, Thromb...	OMIM:226300
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Zellweger Syndrome	Hepatomegaly, Death in infancy, Ventricular septal defect, Microcephaly, Feeding difficulties in ...	ORPHA:912
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:617729
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Imerslund-Grasbeck Syndrome 2	Proteinuria, Megaloblastic anemia	OMIM:618882
Congenital Rubella Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Patent ductus arteriosus, Jaundice, Anemia, Type I diabete...	ORPHA:290
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Osteoarth...	ORPHA:77259
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Recurrent respiratory ...	ORPHA:36426
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Genetic Recurrent Myoglobinuria	Dark urine, Elevated hepatic transaminase, Renal insufficiency, Myositis, Recurrent myoglobinuria...	ORPHA:99845
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Neonatal respiratory distress, True hermaphroditism, Septate vagina,...	OMIM:194080
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Mediastinal lymphad...	ORPHA:809
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Sepsis, Abnormal left ventricular function, Vomiting, Hypocalc...	OMIM:619991
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Hypercalcemia, Pancreatic islet c...	ORPHA:97289
Immunodeficiency 54	Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Splenomegaly, Respiratory insu...	OMIM:609981
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia	ORPHA:141152
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, A...	OMIM:616100
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Alström Syndrome	Respiratory distress, Urinary incontinence, Decreased response to growth hormone stimulation test...	ORPHA:64
Granulomatosis With Polyangiitis	Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C...	ORPHA:900
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Elevated total serum tryptase, Leuke...	ORPHA:157991
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,...	ORPHA:228119
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,...	OMIM:615122
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology	ORPHA:2584
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Cockayne Syndrome	Urinary incontinence, Progressive gait ataxia, Hepatomegaly, Ataxia, Cryptorchidism, Renal hypopl...	ORPHA:191
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Cachexia, Proteinuria, Gait disturbance	ORPHA:2774
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, ...	OMIM:619534
Gray Platelet Syndrome	Splenomegaly, Epistaxis, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Immunodeficiency 96	Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-delta T cells, Increased mean...	OMIM:619774
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Recurrent skin infections, Decreased serum iron, Anemia, Decreased serum zinc,...	ORPHA:89842
Adenohypophysitis	Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating ...	ORPHA:95512
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Cerebral cortical atrophy, Decreased liver function, Abnormal corpus callosum morphology	ORPHA:512260
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia	OMIM:616871
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry...	OMIM:300946
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Allergic rhinitis, Leukocyto...	ORPHA:2070
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor...	ORPHA:98848
Donohue Syndrome	Precocious puberty, Long penis, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pa...	OMIM:246200
Alagille Syndrome 1	Multiple small medullary renal cysts, Papillary thyroid carcinoma, Vesicoureteral reflux, Renal h...	OMIM:118450
Tarp Syndrome	Subdural hemorrhage, Neonatal death, Hepatic failure, Atrial septal defect, Tetralogy of Fallot, ...	OMIM:311900
Diamond-Blackfan Anemia 7	Macrocytic anemia, Patent ductus arteriosus, Horseshoe kidney, Increased mean corpuscular volume,...	OMIM:612562
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Neonatal respiratory distress, Failure to th...	OMIM:617595
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p...	OMIM:607361
Diamond-Blackfan Anemia 6	Macrocytic anemia, Patent ductus arteriosus, Persistence of hemoglobin F, Increased mean corpuscu...	OMIM:612561
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukopenia, L...	ORPHA:50918
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Erdheim-Chester Disease	Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Ataxia, Hypogonadotropic hypogonadism, Re...	ORPHA:35687
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration	OMIM:616239
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Diamond-Blackfan Anemia 11	Anemia of inadequate production, Bone marrow hypocellularity, Unilateral renal agenesis, Neutropenia	OMIM:614900
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom...	OMIM:615688
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun...	ORPHA:100026
Mcdonough Syndrome	Cryptorchidism, Cachexia	ORPHA:2471
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficienc...	OMIM:610333
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Hematuria, Anemia, Infect...	ORPHA:319251
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:95513
Xk Aprosencephaly Syndrome	Microphthalmia, Polyhydramnios	ORPHA:3469
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Respiratory insufficiency, Nephropathy, Abnorm...	ORPHA:1909
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosp...	OMIM:612526
Jeune Syndrome	Renal insufficiency, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Abnormality of t...	ORPHA:474
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increase...	ORPHA:158048
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic otitis media, T...	ORPHA:169090
Fanconi-Bickel Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:2088
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Failure to thrive, Aspiration pneumonia	OMIM:609528
Bardet-Biedl Syndrome 1	Decreased testicular size, Diabetes mellitus, Ataxia, Abnormality of the kidney, Nephrogenic diab...	OMIM:209900
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Hypomethioninemia, Megaloblastic anemia, Pulmonary embolism, Hyperhomocysti...	ORPHA:79282
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Hypoalbuminemia, Abn...	ORPHA:2298
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C...	OMIM:618048
Familial Or Sporadic Hemiplegic Migraine	Facial paralysis, Cerebral edema	ORPHA:569
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Chédiak-Higashi Syndrome	Edema, Recurrent staphylococcal infections, Hyponatremia, Pericardial effusion, Recurrent strepto...	ORPHA:167
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Decreased beta-glucocerebrosidase level, Decrea...	OMIM:231000
Iron Overload, Susceptibility To	Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati...	OMIM:620121
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Apnea, Ataxia, Leukoc...	ORPHA:20
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hypothyr...	ORPHA:79259
Ogden Syndrome	Apnea, Maternal diabetes, Cardiomegaly, Microvesicular hepatic steatosis, Iron deficiency anemia,...	OMIM:300855
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Splenomegaly, Abdominal distention, Hepa...	ORPHA:1655
Microphthalmia, Isolated 5	Microphthalmia, Cystoid macular edema	OMIM:611040
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Nonproductive cough, Uveitis, Leukopenia, Hyp...	ORPHA:99826
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm...	ORPHA:562639
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Abnormal lymphatic vessel morphology, Weight loss, Reduced proportion of CD4...	ORPHA:90362
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Crackles, Nonproductive cough, Leukocytosi...	ORPHA:2902
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutrophil motility,...	OMIM:266265
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease...	OMIM:162000
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Periportal fibrosis, Bicornuate uterus, Pulmonary hypoplasia, Polycystic ...	OMIM:263210
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology...	ORPHA:50251
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Neph...	OMIM:143880
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Eczema, Pancreatic stea...	OMIM:617052
Kawasaki Disease	Pericarditis, Proteinuria, Skin rash, Recurrent pharyngitis, Leukocytosis, Cervical lymphadenopat...	ORPHA:2331
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Christianson Syndrome	Truncal ataxia, Cachexia, Gait ataxia	ORPHA:85278
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Lymphoid Interstitial Pneumonia	Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infect...	ORPHA:79128
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Respiratory distress, ...	ORPHA:537
Microlissencephaly	Pneumonia	ORPHA:1083
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Hyperparathyroidism, Elevated circulating creatinine concentratio...	OMIM:620366
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Iron deficiency anemia, Elevated circulating alkaline phosphatase concentratio...	ORPHA:89937
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology	OMIM:609886
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Acute colitis, Lung abscess, Dyspnea, Leukocytosis,...	ORPHA:67
Adenocarcinoma Of The Esophagus	Cough, Obesity, Lymphadenopathy	ORPHA:99976
Hamamy Syndrome	Hypoparathyroidism, Cryptorchidism, Hypochromic anemia, Microcytic anemia	OMIM:611174
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s...	ORPHA:209902
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C...	OMIM:606367
Diamond-Blackfan Anemia 5	Macrocytic anemia, Hypospadias, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Pelizaeus-Merzbacher Disease	Recurrent respiratory infections, Ataxia, Failure to thrive in infancy, Cachexia, Respiratory ins...	ORPHA:702
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P...	OMIM:618398
Alpha-Mannosidosis, Adult Form	Pancytopenia, Ataxia, Pneumonia, Hepatosplenomegaly, Oligosacchariduria	ORPHA:309288
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Plagiocephaly, Flat occiput, Brachycephaly	ORPHA:2898
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Anemia, Congenital Dyserythropoietic, Type Iiia	Hemosiderinuria, Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemi...	OMIM:105600
Chronic Mucocutaneous Candidiasis	Recurrent respiratory infections, Recurrent urinary tract infections, Dyspareunia, Skin rash, Hep...	ORPHA:1334
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Abnormality of the urinary system, Aplasia/Hypoplasia of the lungs	ORPHA:2204
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Metrorrhagia, Elevated carcinoma antigen 125 level, Elevated circulatin...	ORPHA:370348
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Pulmonary hypoplasia, Polycystic kid...	OMIM:614091
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Recurrent resp...	ORPHA:647
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Pneumonia, Decreased response to growth hormone st...	OMIM:307200
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Elevated circulating alkaline ph...	OMIM:259700
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf...	ORPHA:2686
Complement Factor H Deficiency	Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g...	OMIM:609814
Kaposi Sarcoma	Generalized lymphadenopathy, Skin rash, Abnormality of the spleen, Abnormal lung morphology, Weig...	ORPHA:33276
Meckel Syndrome, Type 6	Absent gallbladder, Abnormal internal genitalia, Bilobed right lung, Renal cyst, Horseshoe kidney...	OMIM:612284
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Lessel-Kubisch Syndrome	Renal insufficiency, Hypogonadism, Renal hypoplasia	OMIM:618681
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin, Exe...	ORPHA:90037
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Myositis, Failure to thrive, Skin rash, Elevated circulating C-...	OMIM:615934
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Ataxia, Small for gestational age,...	OMIM:251300
Gaucher Disease Type 2	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Cough, Abnorm...	ORPHA:77260
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Acute colitis, Leukocytosis, Schistocytosis, Elevated circ...	ORPHA:90038
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Alexander Disease Type I	Failure to thrive, Ataxia, Cachexia	ORPHA:363717
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Kaposiform Lymphangiomatosis	Metrorrhagia, Epistaxis, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of the lym...	ORPHA:464329
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Abnormality of the liver, Cough, Morbilliform ra...	ORPHA:228123
Rhabdomyolysis, Susceptibility To, 1	Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:620235
Behçet Disease	Myositis, Pulmonary embolism, Infectious encephalitis, Glomerulopathy, Acne, Ataxia, Retrobulbar ...	ORPHA:117
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Pulmonary fibrosis,...	OMIM:224230
Mmep Syndrome	Microphthalmia	ORPHA:3434
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Atopic ...	ORPHA:217390
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein ...	ORPHA:85414
Neonatal Alloimmune Neutropenia	Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Maternal diabetes	ORPHA:464370
Pulmonary Hemosiderosis	Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insu...	OMIM:178550
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:91355
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Incre...	ORPHA:60025
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Recurrent respiratory infections, Renal insufficiency, Ataxia, Gout, Hyperuricosuri...	ORPHA:411543
Cocaine Intoxication	Respiratory distress, Pulmonary edema, Proteinuria, Glomerulonephritis, Elevated circulating crea...	ORPHA:90068
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Superficial dermal p...	ORPHA:284426
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv...	ORPHA:169154
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax,...	OMIM:612387
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Recurrent respiratory infections, Patent ductus arteriosus, Respiratory insufficien...	ORPHA:1842
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla...	OMIM:620044
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Recurrent respiratory infections, Hypospadias, Cachexia, Supernumerary nipple, Cry...	ORPHA:217346
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Cardiac conduction abnormality, Abnormality of Krebs cycle metabolism, Low plasma c...	ORPHA:255210
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, ...	OMIM:619603
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Peroxisome Biogenesis Disorder 11A (Zellweger)	Elevated hepatic transaminase, Polymicrogyria, Lissencephaly, Decreased liver function	OMIM:614883
Congenital Isolated Acth Deficiency	Hepatitis, Prolonged neonatal jaundice	ORPHA:199296
Peroxisome Biogenesis Disorder 5B	Elevated circulating phytanic acid concentration, Decreased liver function, Death in childhood	OMIM:614867
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Silver-Russell Syndrome	Abnormality of male external genitalia, Failure to thrive in infancy, Hypospadias, Cachexia, Prec...	ORPHA:813
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circu...	ORPHA:79332
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath...	OMIM:301078
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Adams-Oliver Syndrome	Failure to thrive, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Pulmo...	ORPHA:974
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Inability to walk, Failure to thrive in infancy, Cachexia	OMIM:616801
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta...	OMIM:619484
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Ataxia, Elevated circulating c...	OMIM:608799
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Familial Mediterranean Fever	Acute hepatic failure, Nausea and vomiting, Pericarditis, Intestinal obstruction, Myocardial infa...	ORPHA:342
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum...	OMIM:615952
Snakebite Envenomation	Hyponatremia, Epistaxis, Respiratory failure, Respiratory paralysis, Hypopituitarism, Acute kidne...	ORPHA:449285
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concent...	OMIM:210250
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ...	ORPHA:99827
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Reduced xanthine dehydrogenase level, Hypourice...	ORPHA:3467
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Atelectasis, Renal hypoplasia, Respiratory ...	OMIM:269860
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Failure to thrive, Abnormal circulating carnitine concentration, Choreoathetosis, Renal tubular a...	ORPHA:431361
Diamond-Blackfan Anemia	Acute myeloid leukemia, Renal agenesis, Hypospadias, Pure red cell aplasia, Small for gestational...	ORPHA:124
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic e...	OMIM:617638
Peroxisome Biogenesis Disorder 8B	Corpus callosum atrophy, Elevated circulating phytanic acid concentration, Abnormal cerebral whit...	OMIM:614877
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Hypercalcemia, Small for gestational age, Splenomegaly, Cryptorchid...	OMIM:618440
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Elevated circulating C-reactive prote...	ORPHA:1302
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Cranioectodermal Dysplasia 1	Hepatomegaly, Recurrent respiratory infections, Malformation of the hepatic ductal plate, Renal m...	OMIM:218330
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Recurrent respiratory infectio...	OMIM:615273
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Lichen Planopilaris	Hepatitis	ORPHA:525
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Clitoral hypertrophy, Hepatosplenomegaly	ORPHA:313855
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Abnormal circulating enzyme concentration or a...	ORPHA:79101
Hereditary Orotic Aciduria	Recurrent respiratory infections, Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosu...	ORPHA:30
Biotinidase Deficiency	Hepatomegaly, Apnea, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Ataxia, Splenom...	OMIM:253260
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C...	ORPHA:1164
Infection-Related Hemolytic Uremic Syndrome	Anuria, Hypocalcemia, Nephrotic range proteinuria, Acute colitis, Hyponatremia, Hemolytic anemia,...	ORPHA:544482
Hyperbiliverdinemia	Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis	OMIM:614156
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Hepatomegaly, Renal cyst, Hepatic fibrosis, Cirrhosis	OMIM:601539
Orthostatic Hypotension 1	Reduced circulating prolactin concentration, Increased blood urea nitrogen, Retrograde ejaculatio...	OMIM:223360
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T...	OMIM:301050
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Papillary cystadenoma of the epididymis, Renal Fanconi syndrome, Hypothyroidism, Hepatic steatosi...	ORPHA:93111
Ciliary Dyskinesia, Primary, 9	Male infertility, Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Decreased n...	OMIM:612444
Colchicine Poisoning	Hyponatremia, Respiratory distress, Renal insufficiency, Myocarditis, Leukocytosis, Abnormal bloo...	ORPHA:31824
Refsum Disease	Splenomegaly, Renal insufficiency, Ataxia, Respiratory insufficiency	ORPHA:773
Listeriosis	Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ...	ORPHA:533
Riddle Syndrome	Generalized lymphadenopathy, Ataxia, Pneumonia, Bronchitis, Elevated circulating alpha-fetoprotei...	ORPHA:420741
Slc35A1-Cdg	Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu...	ORPHA:238459
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Increased hepatocellular lipid droplets, Leukoencephalopathy, Decreased liver funct...	OMIM:220110
Acquired Ichthyosis	Renal insufficiency, Recurrent skin infections	ORPHA:454
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Bifid scrotum, Renal insufficiency, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Renal hypo...	ORPHA:85321
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Pustule, Glucocortocoid-insensitive pr...	ORPHA:171876
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentr...	ORPHA:94093
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Abdominal mass, Ataxia, Elevated urinary dopamine level, Ab...	OMIM:256700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Digeorge Syndrome	Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hepat...	OMIM:188400
Mcleod Syndrome	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:300842
Hereditary Folate Malabsorption	Recurrent respiratory infections, Recurrent urinary tract infections, Pancytopenia, Eosinophilia,...	ORPHA:90045
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo...	ORPHA:486
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy, Diabetes mellitus, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Oligomeganephronia	Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Small for gestational age, Unilater...	ORPHA:2260
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati...	ORPHA:324964
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Hepatic failure	ORPHA:3196
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Brachycephaly, Craniosynostosis	OMIM:614416
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglob...	OMIM:619127
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Roifman Syndrome	Hypogonadotropic hypogonadism, Eosinophilia, Eczema, Recurrent pneumonia, Lymphadenopathy, Hepato...	ORPHA:353298
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti...	ORPHA:331235
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Vascular Malformation, Primary Intraosseous	Elevated circulating alkaline phosphatase concentration, Hypochromic anemia	OMIM:606893
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Failure to thrive in infancy, Hemolytic-uremic syndrome, Thromb...	OMIM:611209
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia...	ORPHA:411536
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Elevated...	OMIM:615673
Rigid Spine Syndrome	Waddling gait, Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency	ORPHA:97244
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Familial Partial Lipodystrophy, Dunnigan Type	Glomerulopathy, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Splenomegaly...	ORPHA:2348
Kearns-Sayre Syndrome	Hypoparathyroidism, Sideroblastic anemia, Diabetes mellitus, Ataxia, Primary adrenal insufficienc...	OMIM:530000
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Hereditary Methemoglobinemia	Small for gestational age, Athetosis, Methemoglobinemia, Exertional dyspnea	ORPHA:621
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr...	ORPHA:158029
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia	OMIM:261750
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ...	OMIM:314050
Relapsing Polychondritis	Uveitis, Conjunctivitis, Cough, Chondritis, Glomerulopathy, Atelectasis, Hepatitis, Scleritis, Ab...	ORPHA:728
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal pulmonary interstitial morphology, Weigh...	ORPHA:330001
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Elevated circulating creatine kinase concentration, Normochromic anemi...	OMIM:618775
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Pleuritis, Erysipelas	OMIM:134610
Serotonin Syndrome	Tachycardia, Diarrhea, Rhabdomyolysis, Hypertension, Hypotension, Hepatic failure, Nausea	ORPHA:43116
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Spo...	OMIM:214500
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi...	OMIM:619743
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Roifman Syndrome	Hepatomegaly, Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Recurrent...	OMIM:616651
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Bloom Syndrome	Bronchitis, Uveitis, Otitis media, Decreased proportion of CD4-positive T cells, Male infertility...	ORPHA:125
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Recurrent sinopulmonary infections, Decreased proportion of CD4+CD25+ regulatory T cells, Follicu...	OMIM:619846
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Joubert Syndrome 4	Renal insufficiency, Ataxia, Abnormal renal medulla morphology, Stage 5 chronic kidney disease, N...	OMIM:609583
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ...	ORPHA:158684
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Hypothyroidism, Lymphad...	OMIM:607944
Igg4-Related Aortitis	Increased inflammatory response, Elevated circulating C-reactive protein concentration, Asthma, H...	ORPHA:449400
Joubert Syndrome 1	Central apnea, Ataxia, Episodic tachypnea, Renal cyst, Hepatic fibrosis, Nephropathy, Neonatal br...	OMIM:213300
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Microcephaly, Splenomegaly, Patent ductu...	OMIM:618268
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Overweight, Patent ductus arteriosus, Recurrent upper respiratory tract infections, Recurrent pne...	OMIM:619769
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Cholestasis, Tubulointers...	OMIM:615862
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Elevated circulating...	OMIM:601847
Flynn-Aird Syndrome	Ataxia, Cachexia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabet...	ORPHA:2047
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in...	OMIM:616433
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic lung disease, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morpholo...	ORPHA:97290
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss, Type I diabetes mellitus, Abnormal circulating lipid concentration, Hyperl...	ORPHA:1979
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Ataxia, Leukocytosis, Tachypnea, Hyperammonemia, Weight loss, Hyperurice...	ORPHA:134
Craniosynostosis 6	Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi...	OMIM:616602
Vipoma	Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Hypokal...	ORPHA:97282
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Elevated gamma-glutamyltransferase...	OMIM:243800
Juvenile Polyposis Of Infancy	Refractory anemia, Cachexia, Patent ductus arteriosus, Hypoalbuminemia, Freckled genitalia, Anemia	ORPHA:79076
Congenital Disorder Of Glycosylation, Type Ii	Iron deficiency anemia, Decreased body weight, Hypothyroidism, Hepatomegaly	OMIM:607906
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H...	OMIM:306000
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Ataxia, Cholangitis, Microvesicular hepatic stea...	OMIM:124000
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Tempi Syndrome	Transudative pleural effusion, Abnormality of the kidney, Hypoxemia, Increased hematocrit, Abnorm...	ORPHA:284227
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Respiratory insufficiency, Arthritis, Lipogranulomatosis, Failure to ...	OMIM:228000
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub...	OMIM:211600
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Cough, Lethargy, Hilar lymph node enlargement, Hepatomegaly, Mediastinal lymphadenopath...	OMIM:620233
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Broad-based gait, Cachexia, Obesity, Hypogonadism, Decreased testicular size	ORPHA:85293
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia	OMIM:613885
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Skeletal muscle steatosis, Hypertrophic cardiomyopathy, Vomiting, Decreased liver f...	ORPHA:436271
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Diamond-Blackfan Anemia 10	Respiratory distress, Macrocytic anemia, Ectopic kidney, Patent ductus arteriosus, Reticulocytope...	OMIM:613309
Hereditary Fructose Intolerance	Hepatomegaly, Reduced circulating aldolase concentration, Abdominal pain, Abdominal distention, J...	ORPHA:469
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Hypertriglyceridemia, Failure to thrive...	OMIM:619418
Juvenile Amyotrophic Lateral Sclerosis	Ataxia, Urinary incontinence, Cachexia, Inability to walk, Tip-toe gait, Difficulty walking	ORPHA:300605
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Cachexia, Respiratory failure, Respiratory insufficiency	OMIM:618186
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Hydrocele testi...	OMIM:605309
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumo...	OMIM:242700
Takayasu Arteritis	Increased inflammatory response, Weight loss, Arthritis, Pulmonary arterial hypertension, Inflamm...	ORPHA:3287
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Elevated hepatic transaminase, Hyperammonemia, Dehydration, Vomiting	OMIM:615453
Nephroblastoma	Lymphadenopathy, Hematuria, Neoplasm of the liver, Neoplasm of the lung, Weight loss, Nephroblastoma	ORPHA:654
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Inflammatory abnormality of th...	ORPHA:26793
Fabry Disease	Renal insufficiency, Proteinuria, Urinary mulberry cells, Lipiduria, Delayed puberty, Left ventri...	OMIM:301500
Glucagonoma	Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol level, Adreno...	ORPHA:97280
Ciliary Dyskinesia, Primary, 1	Male infertility, Pneumonia, Asplenia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Imm...	OMIM:244400
Central Diabetes Insipidus	Hyponatremia, Weight loss, Lethargy, Failure to thrive, Diabetes insipidus, Nocturia	ORPHA:178029
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti...	OMIM:618394
Immunodeficiency, Common Variable, 7	Splenomegaly, Recurrent urinary tract infections, Recurrent respiratory infections	OMIM:614699
X-Linked Intellectual Disability, Snyder Type	Decreased muscle mass, Camptodactyly, Cerebral edema, Megalencephaly	ORPHA:3063
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:161200
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Pineal cyst, Iron deficiency anemi...	OMIM:618885
Liddle Syndrome	Nephropathy, Renal insufficiency, Hypokalemia	ORPHA:526
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomeg...	ORPHA:79083
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Recurrent respiratory infections, Skin rash, Elevated circulating C-reactive p...	OMIM:301074
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis	OMIM:616649
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis, Multicystic kidney dysplasia, Respiratory insufficiency, Renal cyst	ORPHA:2031
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Elevated circulating ...	OMIM:612852
Congenital Factor Xiii Deficiency	Epistaxis, Cerebral hemorrhage, Inflammation of the large intestine, Intramuscular hematoma, Hepa...	ORPHA:331
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Broad-based gait, Uterine prolapse, Apnea, Decreased serum iron, Breathing dysre...	ORPHA:438213
Primary Familial Polycythemia	Epistaxis, Abnormal hemoglobin, Dyspnea, Cough, Polycythemia, Exertional dyspnea	ORPHA:90042
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Inability to walk, Stage 5 chronic kidney disease, Bilateral re...	OMIM:166300
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Pyomyositis	Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Leukocytosis, Weight loss, ...	ORPHA:764
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Leukocytosis, Lymphadenopathy, A...	ORPHA:99812
Tuberculosis	Abnormal lung morphology, Weight loss, Cough	ORPHA:3389
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri...	ORPHA:79233
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, In...	OMIM:608885
Chromosome 15Q25 Deletion Syndrome	Cryptorchidism, Macrocytic anemia, Dilatation of renal calices, Polysplenia	OMIM:614294
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abno...	OMIM:181000
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Schwartz-Jampel Syndrome	Apnea, Elevated circulating creatine kinase concentration, Cachexia, Abnormality of the ureter, N...	ORPHA:800
Typhoid	Hepatomegaly, Skin rash, Epistaxis, Ataxia, Splenomegaly, Abnormal pulmonary interstitial morphol...	ORPHA:99745
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Stillbirth, Neonatal death, ...	ORPHA:85212
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Acrorenal Syndrome	Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia	ORPHA:971
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Neurofibrillary tangles, Splenomegal...	OMIM:257220
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Elevated circulating creatine kinase concentration, Chronic kidney disease, Respiratory insuffici...	ORPHA:324525
Amyloidosis, Finnish Type	Nephrotic syndrome, Renal insufficiency, Abnormal abdomen morphology	OMIM:105120
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia, Diabetes mellitus, Ataxia, Gait disturbance, Hypogonadism, Hypothyroidism	ORPHA:98673
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Adenine Phosphoribosyltransferase Deficiency	Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra...	ORPHA:976
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Abnormal left ventricular function, Microphthalmia, Cardiomyopathy	OMIM:613155
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk...	OMIM:616576
Polymyositis	Hepatomegaly, Pericarditis, Elevated circulating creatine kinase concentration, Abnormal pulmonar...	ORPHA:732
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpholo...	ORPHA:319487
Attrv30M Amyloidosis	Cardiomegaly, Weight loss, Impotence, Nephropathy, Abnormal renal physiology	ORPHA:85447
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Cardiomegaly, Pneumothorax, Glandular hypospadias, Abnormal circulating cer...	OMIM:620306
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodon...	ORPHA:534
Sézary Syndrome	Hepatomegaly, Abnormal pleura morphology, Splenomegaly, Lymphadenopathy, Erythroderma, Abnormal l...	ORPHA:3162
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Skeletal muscle atrophy, Limb joint contracture, Microcephaly, Splenomegaly, Micron...	OMIM:301072
Meckel Syndrome 14	Pneumothorax, Cardiorespiratory arrest, Hepatic fibrosis, Pulmonary hypoplasia, Polycystic kidney...	OMIM:619879
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Dyspnea, Hyperlipidemia, Chronic pulmonary obst...	ORPHA:324
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Elevated circulating creatine kinase concentration, Nausea, Hepatic failur...	ORPHA:466650
Primary Ciliary Dyskinesia	Asplenia, Chronic otitis media, Abnormal sperm motility, Male infertility, Neonatal respiratory d...	ORPHA:244
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Congen...	ORPHA:436252
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub...	OMIM:610205
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Ataxia, Hyperuricemia	ORPHA:3222
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr...	ORPHA:564
Orthostatic Hypotension 2	Anemia	OMIM:618182
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Glycogen Storage Disease Ii	Hepatomegaly, Recurrent respiratory infections, Increased circulating NT-proBNP concentration, Ur...	OMIM:232300
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele	ORPHA:324416
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Renal Cysts And Diabetes Syndrome	Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ...	OMIM:137920
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Renal Nutcracker Syndrome	Dyspareunia, Proteinuria, Dysmenorrhea, Vulval varicose vein, Weight loss, Hematuria, Renal arter...	ORPHA:71273
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas...	ORPHA:51636
Glycogen Storage Disease Xi	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Microscopic Polyangiitis	Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe...	ORPHA:727
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri...	ORPHA:99879
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Recurrent respiratory infections, Cachexia	ORPHA:1389
Gaucher Disease, Type Ii	Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Failure to thrive, Recu...	OMIM:230900
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tonsils, Bronchiectasis, Chr...	OMIM:616005
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Rhinitis, Abnormality of the tonsils	ORPHA:93476
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Acquired Von Willebrand Syndrome	Normocytic anemia, Refractory anemia, Metrorrhagia, Epistaxis, Hematuria, Menorrhagia, Hypochromi...	ORPHA:99147
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Lymphedema, Macular edema, Vitreous hemorrhage, Retinal neovascularizatio...	ORPHA:891
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Respiratory insufficiency, Lymphadenopathy, Weight loss, Inflamma...	ORPHA:26790
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Pulmonary fibrosis, Testicular atrophy...	OMIM:618165
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Pelvic mass, Vaginal neoplasm, Reduced C-peptide level, Weight lo...	ORPHA:2126
Yellow Nail Syndrome	Renal neoplasm, Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bro...	ORPHA:662
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato...	OMIM:203700
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Neonatal respiratory...	OMIM:614748
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Ambiguous genitalia, Abnormality of the ...	ORPHA:847
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased...	OMIM:618061
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypertrophic cardiomyopathy, Oligohydramnios	OMIM:619053
Rat-Bite Fever	Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema ...	ORPHA:31205
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Immunodeficiency 13	Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, B...	OMIM:615518
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Polyhydramnios	ORPHA:2547
Peroxisome Biogenesis Disorder 6B	Elevated circulating phytanic acid concentration, Abnormal cerebral white matter morphology, Dist...	OMIM:614871
Degcags Syndrome	Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Hepatomegaly, Hypospadias, Congen...	OMIM:619488
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Proteinuria, Ataxia, Splenomegaly, ...	ORPHA:77261
Apparent Mineralocorticoid Excess	Renal insufficiency, Failure to thrive, Abnormal urine sodium concentration, Nephrocalcinosis, Hy...	ORPHA:320
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla...	ORPHA:143
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary i...	OMIM:230800
Meningococcal Meningitis	Neonatal respiratory distress, Renal insufficiency, Skin rash, Elevated circulating C-reactive pr...	ORPHA:33475
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H...	ORPHA:35710
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Lymphadenopathy, Hepatosplenomegaly,...	ORPHA:85408
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp...	ORPHA:140896
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Chronic m...	ORPHA:98813
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Lymphaden...	OMIM:260920
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Papa Syndrome	Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Lymphadenopathy, Arthritis...	ORPHA:69126
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Seckel Syndrome 2	Microphthalmia, Heart murmur	OMIM:606744
Chronic Granulomatous Disease	Hepatomegaly, Recurrent respiratory infections, Liver abscess, Sinusitis, Eczema, Abnormality of ...	ORPHA:379
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Poikiloderma With Neutropenia	Skin rash, Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent bronchopul...	OMIM:604173
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Recurrent upper respiratory tract infections, B lymphocytopenia, Pneumonia, Chronic bronchitis	OMIM:614069
Ataxia-Telangiectasia	Sinusitis, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Ataxia, Bronchiectasis, ...	OMIM:208900
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Wheezing, Lymphadenopathy, Abnormality of the liver, Lym...	ORPHA:79456
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Athetosis, Ataxia, Cachexia	ORPHA:52503
Chops Syndrome	Tracheomalacia, Splenomegaly, Patent ductus arteriosus, Cryptorchidism, Obesity, Horseshoe kidney...	OMIM:616368
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension, Decreased liver function, Hepatic cysts	OMIM:600666
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Decreased DLCO, Aminoaciduria, Pul...	OMIM:618913
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Neonatal respiratory distress, Hypospadias, Decreased response to growth hor...	ORPHA:96179
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos...	OMIM:308700
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Renal cyst, Elevated gamma-glutamyltransferase level, Lethargy, In...	OMIM:614866
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Increased inflammatory response, Skin rash, Tachypnea, Elevated ci...	ORPHA:542323
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recur...	OMIM:617718
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia	OMIM:613987
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Hyperuri...	ORPHA:261222
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein co...	OMIM:617099
Cofs Syndrome	Microphthalmia	ORPHA:1466
Erythrocytosis, Familial, 2	Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Pulmonary arterial hyp...	OMIM:263400
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hypochromic anemia, Ataxia, Abnormality of neutrophils, Abnormal renal tubule morphology	ORPHA:2720
Poems Syndrome	Diabetes mellitus, Respiratory insufficiency due to muscle weakness, Hypothyroidism, Abnormality ...	ORPHA:2905
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Diabetes insipidus, Elevated amniotic fluid alpha-fetoprotein, Prolonged neonatal jaundice, Sever...	ORPHA:423479
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Yellow Fever	Renal insufficiency, Anuria, Neutrophilia, Elevated circulating creatine kinase concentration, Ac...	ORPHA:99829
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Pneumonia, Elevated circulating C-reactive protein conc...	ORPHA:178320
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis	OMIM:619183
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Patent ductus...	ORPHA:251066
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Ataxia, Small for gestational age, Cryptorchidism, Urolithiasis...	OMIM:300661
Scedosporiosis	Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br...	ORPHA:449280
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Keratitis, Splenomegaly, Jaundice, Neo...	ORPHA:525731
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Fanconi Anemia	Leukopenia, Abnormality of the liver, Abnormality of the uterus, Abnormality of the hypothalamus-...	ORPHA:84
17Q12 Microduplication Syndrome	Microphthalmia, Polyhydramnios	ORPHA:261272
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Elevated circulating creatine kinase concentration, Hyperkalemia, Increased circulating lactate d...	OMIM:268200
Methemoglobinemia And Ambiguous Genitalia	Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ...	OMIM:250790
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu...	OMIM:215600
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Gm1 Gangliosidosis	Recurrent respiratory infections, Ataxia, Splenomegaly, Patent ductus arteriosus, Unsteady gait, ...	ORPHA:354
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Inability to walk, Renal hypoplasia, Nephrocalcinosis, Hy...	OMIM:617913
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Neonatal respiratory distress, Ataxia, Small for gestational age, Inabi...	ORPHA:79243
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper res...	OMIM:252920
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Recurrent urinary tract infections, Cerebral calcification, Portal...	OMIM:613658
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N...	OMIM:300554
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Elliptocytosis, Micro...	ORPHA:86818
Kennedy Disease	Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erectile dysfunction, Abnormal ...	ORPHA:481
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Failure to thrive, Skin rash, Gastritis, Perianal abscess, Bron...	OMIM:618108
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Abnormality of the ureter, Biliary tract abnormality, ...	OMIM:175200
16Q24.3 Microdeletion Syndrome	Chronic otitis media, Cryptorchidism, Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, P...	OMIM:267010
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Hypoglycinemia, Megaloblastic anemia, Hyposerinemia, Athetosis, Hypogonadism, Esophagitis, Failur...	ORPHA:79351
Malt Lymphoma	Recurrent respiratory infections, Abnormality of the thyroid gland, Mediastinal lymphadenopathy, ...	ORPHA:52417
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R...	ORPHA:264675
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Failure to thrive, Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Chronic bronchitis, R...	OMIM:242860
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	ORPHA:2364
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Pituitary Apoplexy	Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	ORPHA:95613
Turner Syndrome Due To Structural X Chromosome Anomalies	Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibro...	ORPHA:99413
Mosaic Monosomy X	Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibro...	ORPHA:99228
Monosomy X	Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibro...	ORPHA:99226
Turner Syndrome	Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic fibro...	ORPHA:881
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar op...	ORPHA:90340
Kallmann Syndrome With Spastic Paraplegia	Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia, Hypogonadotrop...	OMIM:308750
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormal peritoneum morphology, Recurrent resp...	ORPHA:1764
Tetrasomy 12P	Cachexia	ORPHA:884
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con...	OMIM:611783
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Focal Dermal Hypoplasia	Acute hepatic failure, Ventricular septal defect, Telangiectasia of the skin, Congenital diaphrag...	ORPHA:2092
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233710
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ...	OMIM:248250
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Ataxia, Hypothyroidism, Dysmetria, Hepatic ...	OMIM:616263
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Viss Syndrome	Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, Gastroesophageal reflux, Atria...	OMIM:619472
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise...	ORPHA:368
Oculopharyngodistal Myopathy	Respiratory insufficiency due to muscle weakness, Weight loss, Restrictive ventilatory defect, Di...	ORPHA:98897
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uteru...	OMIM:194072
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis, Lymphadenopathy	OMIM:617772
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
African Trypanosomiasis	Urinary incontinence, Choreoathetosis, Conjunctivitis, Iritis, Hepatomegaly, Abnormality of the e...	ORPHA:3385
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Cholera	Hyponatremia, Abnormality of renal excretion, Tachypnea, Abnormal blood ion concentration, Hypoka...	ORPHA:173
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Abnormality of the kidney, Cholangitis, Eosinophilia, Retroperitoneal fibros...	ORPHA:449432
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Pate...	OMIM:613610
Eosinophilic Fasciitis	Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis	ORPHA:3165
Rett Syndrome	Apnea, Intermittent hyperventilation, Cachexia, Gait apraxia, Gait ataxia, Truncal ataxia	OMIM:312750
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ...	ORPHA:65682
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Neonatal respiratory distress, Akinesia, Acanthocytosis, Restrictive ventilato...	OMIM:618947
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla...	ORPHA:99880
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Mucopolysaccharidosis Type 6	Sinusitis, Splenomegaly, Recurrent upper respiratory tract infections, Mucopolysacchariduria, Chr...	ORPHA:583
Proteus Syndrome	Thymus hyperplasia, Cachexia, Pulmonary embolism, Neoplasm of the thymus, Splenomegaly, Enlarged ...	ORPHA:744
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Renal insufficiency, Pulmonary lymphangiectasia, Restrictive ventilatory defe...	OMIM:247410
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Acute Intermittent Porphyria	Hyponatremia, Dark urine, Renal insufficiency, Abnormal circulating enzyme concentration or activ...	ORPHA:79276
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con...	OMIM:617907
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hepatic failure, Portal hypertension, Oligohydramnios	OMIM:619431
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Conjunctivitis, Elevated circu...	OMIM:263700
Histiocytosis-Lymphadenopathy Plus Syndrome	Episcleritis, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone ...	OMIM:602782
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Hypercalcemia, Elevated urinary norepinephrine level, Elevated ur...	ORPHA:94080
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Pulmonary arterial hypertension	OMIM:300887
Immunodeficiency 43	Recurrent respiratory infections, Lung abscess, Bronchiectasis, Decreased circulating beta-2-micr...	OMIM:241600
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse...	ORPHA:79127
Dyskeratosis Congenita	Recurrent respiratory infections, Hepatomegaly, Cerebral calcification, Telangiectasia of the ski...	ORPHA:1775
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst	OMIM:611773
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Small for gestational age, Respiratory failure, Aspiration pneumonia	OMIM:619057
American Trypanosomiasis	Hepatomegaly, Skin rash, Splenomegaly, Dyspnea, Myocarditis, Lymphadenopathy, Cough, Infectious e...	ORPHA:3386
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Polyarteritis Nodosa	Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, A...	ORPHA:767
Mucopolysaccharidosis, Type Iiia	Heparan sulfate excretion in urine, Hepatomegaly, Recurrent upper respiratory tract infections, S...	OMIM:252900
Timothy Syndrome	Pneumonia, Bronchitis, Cardiomegaly, Patent ductus arteriosus, Hypocalcemia, Pulmonary arterial h...	OMIM:601005
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary...	ORPHA:2414
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Asthma, Nephrolithiasis, Weight lo...	OMIM:617321
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Failure to thrive, Neutropenia, Hyperechogenic pancreas, Thrombo...	OMIM:617941
Infantile Krabbe Disease	Respiratory distress, Abnormal circulating enzyme concentration or activity, Cachexia, Respirator...	ORPHA:206436
Variant Abeta2M Amyloidosis	Hepatic amyloidosis, Abnormal salivary gland morphology, Chronic kidney disease, Renal amyloidosis	ORPHA:314652
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Pmm2-Cdg	Respiratory distress, Elevated circulating thyroid-stimulating hormone concentration, Hyperplasti...	ORPHA:79318
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Abnormal heart valve...	ORPHA:77293
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes insipidus, Chilblains, Splenomegaly, Inabil...	OMIM:225750
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Renal hypoplasia, Reticulocytopenia, Persistenc...	OMIM:105650
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Lymphadenopathy, Bone marrow hypo...	ORPHA:101096
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia, Congestive heart failure, Edema	ORPHA:2505
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract...	ORPHA:361
Lathosterolosis	Hepatomegaly, Cerebral calcification, Microcephaly, Intrahepatic cholestasis, Hepatic failure	ORPHA:46059
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Failure to thrive, Nephrogenic diabetes insipidus, Functional a...	ORPHA:223
Immunodeficiency With Hyper-Igm, Type 5	Recurrent upper and lower respiratory tract infections, Epididymitis, Lymphadenopathy	OMIM:608106
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula...	OMIM:618042
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Decreased iduronate sulfatase level, Heparan sulfate excretion in urine, Splenomega...	OMIM:309900
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Macrocytic anemia, Granulocytopenia	OMIM:606164
Cystic Fibrosis	Male infertility, Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vi...	OMIM:219700
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Huntington Disease	Inability to walk, Weight loss, Bradykinesia, Abnormal circulating cholesterol concentration, Gai...	ORPHA:399
Megabladder, Congenital	Multiple glomerular cysts, Patent ductus arteriosus, Stage 5 chronic kidney disease, Fetal megacy...	OMIM:618719
Hyperuricemia, Hprt-Related	Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra	OMIM:300323
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes m...	OMIM:608594
Kleefstra Syndrome	Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Hypospadias, Tracheom...	ORPHA:261494
Kimura Disease	Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia	ORPHA:482
Trisomy 18	Cachexia, Abnormality of the upper urinary tract, Cryptorchidism, Abnormal morphology of female i...	ORPHA:3380
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Hennekam Syndrome	Recurrent respiratory infections, Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Horse...	ORPHA:2136
Pierpont Syndrome	Microphthalmia	OMIM:602342
Lissencephaly 8	Microphthalmia, Occipital encephalocele	OMIM:617255
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Insulin-resistant diabetes mellitus, Arthralgia/arthritis, Weight ...	ORPHA:411593
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Hepatic fibrosis, Pulmonary hypoplasia, Polycystic kidney dysplasia, Ambiguo...	OMIM:263520
Bardet-Biedl Syndrome 9	Truncal obesity, Renal insufficiency, Irregular menstruation, Obesity	OMIM:615986
Niemann-Pick Disease Type C	Hepatomegaly, Fetal ascites, Low cholesterol esterification rate, Splenomegaly, Jaundice, Aplasia...	ORPHA:646
Martin-Probst Syndrome	Bifid scrotum, Renal insufficiency, Pancytopenia, Proteinuria, Cryptorchidism, Chordee, Hypoplast...	OMIM:300519
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Tracheobronchial leio...	OMIM:308940
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Abnormal circulating enzym...	ORPHA:565612
Pulmonary Arteriovenous Malformation	Brain abscess, Liver abscess, Epistaxis, Dyspnea, Hypoxemia, Iron deficiency anemia, Pleural empy...	ORPHA:2038
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia	ORPHA:309108
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Erythrokeratodermia Variabilis	Diabetes mellitus, Abnormal testis morphology, Skin rash, Weight loss	ORPHA:317
Huntington Disease-Like 2	Gait disturbance, Weight loss	ORPHA:98934
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ...	ORPHA:488627
Scheie Syndrome	Splenomegaly, Hepatomegaly, Rhinitis, Mucopolysacchariduria	ORPHA:93474
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Maternal diabetes...	ORPHA:3027
Rh-Null, Regulator Type	Hemolytic anemia, Stomatocytosis	OMIM:268150
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Ascites, Weight loss	ORPHA:2198
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Proteinuria, Vaginal neoplasm,...	ORPHA:1018
Congenital Disorder Of Glycosylation, Type Iiq	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:617395
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Monosomy 18P	Microphthalmia, Hypertension, Lymphedema	ORPHA:1598
Mednik Syndrome	Cholestasis, Hepatic fibrosis, Cirrhosis, Increased circulating very long-chain fatty acid concen...	OMIM:609313
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, P...	ORPHA:90790
Hartsfield Syndrome	Encephalocele, Microphthalmia	ORPHA:2117
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Pulmonary artery stenosis, L...	ORPHA:667
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Splenomegaly, Recurrent p...	OMIM:608233
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc, Skin rash, Hepatomegaly	OMIM:601979
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia	OMIM:617101
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Ataxia, Splenomegaly, Patent ductus arteriosus, Decreased beta-galactosidase activi...	OMIM:230600
Inflammatory Pseudotumor Of The Liver	Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	ORPHA:90003
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration	OMIM:160010
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia...	ORPHA:90794
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Polycystic kidney dysplasia, Hepat...	OMIM:311200
Tropical Endomyocardial Fibrosis	Hepatomegaly, Orthopnea, Eosinophilia, Cachexia, Cardiomegaly, Splenomegaly, Dyspnea, Pulmonary v...	ORPHA:75565
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Renal insufficiency, Hypocalcemia, Nephropathy, Hypothyroidism	ORPHA:1563
Hurler-Scheie Syndrome	Hepatomegaly, Recurrent respiratory infections, Heparan sulfate excretion in urine, Splenomegaly,...	OMIM:607015
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, V...	OMIM:122470
Isolated Succinate-Coq Reductase Deficiency	Ataxia, Weight loss, Vesicoureteral reflux, Loss of ambulation, Left ventricular hypertrophy	ORPHA:3208
Mucopolysaccharidosis, Type Iiic	Heparan sulfate excretion in urine, Hepatomegaly, Recurrent upper respiratory tract infections, S...	OMIM:252930
Hepatoerythropoietic Porphyria	Hemolytic anemia, Recurrent bacterial skin infections, Abnormal circulating enzyme concentration ...	ORPHA:95159
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Neoplasm of th...	ORPHA:142
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Recurrent respiratory infections, Renal insufficiency, Hypospadias...	ORPHA:397715
Niemann-Pick Disease, Type C2	Hepatomegaly, Neonatal respiratory distress, Ataxia, Bone-marrow foam cells, Fetal ascites, Low c...	OMIM:607625
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia, Exertional dyspnea	OMIM:250800
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepat...	ORPHA:1333
Joubert Syndrome 7	Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Stage 5 chronic kidney disease, Renal cyst,...	OMIM:611560
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Mednik Syndrome	Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:171851
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Mercury Poisoning	Respiratory distress, Dyspnea, Hypokalemia, Respiratory failure, Interstitial pneumonitis, Acute ...	ORPHA:330021
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Proteinuria, Ataxia, Splenomegaly, Cryptorchidism, Irregular m...	OMIM:216400
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm...	ORPHA:293978
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Neonatal...	OMIM:613390
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, High nonceruloplasmin-bound serum copper, Thrombocytopenia	ORPHA:457351
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea...	ORPHA:3337
Nocardiosis	Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem...	ORPHA:31204
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Polycythemia Vera	Hepatomegaly, Epistaxis, Portal hypertension, Pulmonary embolism, Portal vein thrombosis, Splenom...	ORPHA:729
17Q12 Microdeletion Syndrome	Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Diabetes mellit...	ORPHA:261265
Lamellar Ichthyosis	Chronic otitis media, Recurrent respiratory infections, Renal insufficiency, Erythroderma	ORPHA:313
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ketonuria, Ataxia, Lacticaciduria, Neonatal death, Aspiration pneumonia, Left ventr...	OMIM:619167
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter...	ORPHA:90324
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L...	OMIM:618213
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration	OMIM:313200
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Hypocalcemic seizures, Anemia	OMIM:612301
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Juvenile Huntington Disease	Broad-based gait, Ataxia, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia, Weight loss	ORPHA:248111
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidis...	OMIM:210900
Choreoacanthocytosis	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	ORPHA:2388
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Splenomegaly, Primary adrenal insuffi...	OMIM:261515
Craniosynostosis 2	Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Trigonocep...	OMIM:604757
Tay-Sachs Disease	Abnormal circulating enzyme concentration or activity, Increased serum beta-hexosaminidase, Preco...	ORPHA:845
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht...	OMIM:153400
Hydrolethalus	Microphthalmia, Anophthalmia, Anencephaly, Polyhydramnios	ORPHA:2189
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:613327
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Patent ductus arteriosus, Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv...	OMIM:158310
Arteriosclerosis, Severe Juvenile	Chronic kidney disease, Anemia, Delayed puberty	OMIM:208060
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib...	ORPHA:52901
Bartter Syndrome Type 4	Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary...	ORPHA:89938
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Psoriasiform dermatitis, Diabetes melli...	ORPHA:2237
Agel Amyloidosis	Proteinuria, Ataxia, Respiratory tract infection, Stage 5 chronic kidney disease, Keratoconjuncti...	ORPHA:85448
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Ambiguous genitalia, Hypogonadotropic hypogonadism, Cryptorchidism, Patent d...	OMIM:617159
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Pulmonary arteri...	ORPHA:71493
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Methemoglobinemia, Hypoxemia	ORPHA:464453
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Lymphad...	OMIM:605258
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Rhyns Syndrome	Renal insufficiency, Decreased response to growth hormone stimulation test, Chronic kidney diseas...	OMIM:602152
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Small scrotum, Pneumonia, Cryptorchidism, Abnormal respiratory ...	ORPHA:98905
Hermansky-Pudlak Syndrome	Renal insufficiency, Menometrorrhagia, Epistaxis, Dyspnea, Weight loss, Pulmonary fibrosis, Neutr...	ORPHA:79430
Fucosidosis	Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Vacuolated lymphocyte...	OMIM:230000
Huppke-Brendel Syndrome	Inability to walk, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe...	OMIM:614482
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Acne, Elevated circulating growth hormone concentration, Seborrheic ...	ORPHA:2796
Familial Tumoral Calcinosis	Nephrocalcinosis, Hepatomegaly, Skin rash, Splenomegaly	ORPHA:53715
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Slc39A8-Cdg	Abnormal blood zinc concentration, Sudden episodic apnea, Failure to thrive in infancy, Inability...	ORPHA:468699
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Proteinuria, Ataxia, Small for gestational age, Splenomegaly, ...	OMIM:133540
Diffuse Cutaneous Systemic Sclerosis	Dyspareunia, Renal insufficiency, Dyspnea, Oliguria, Arthritis, Pulmonary fibrosis, Pulmonary art...	ORPHA:220393
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorr...	OMIM:153670
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Large for gestational age, Hepatoblastoma, Vesicoureteral ref...	ORPHA:116
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Dehydration	OMIM:214150
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Weight loss, Neoplasm of the lung, Abnormal liver parenchyma morphol...	ORPHA:1332
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Ambiguous genitalia, Renal agenesis, Unilateral renal agenesis, Ectopic kidn...	OMIM:617641
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ...	OMIM:608710
Igg4-Related Ophthalmic Disease	Sinusitis, Eosinophilia, Abnormality of the kidney, Elevated circulating C-reactive protein conce...	ORPHA:449563
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym...	OMIM:603041
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
Distal Limb Deficiencies-Micrognathia Syndrome	Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Kleefstra Syndrome Due To 9Q34 Microdeletion	Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Obesity, Vesicoureteral reflux, Failure...	ORPHA:96147
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Arrhythmia	ORPHA:3191
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Congenital Fibrinogen Deficiency	Microphthalmia, Tachycardia, Internal hemorrhage	ORPHA:335
Gray Platelet Syndrome	Epistaxis, Abnormal number of alpha granules, Splenomegaly, Menorrhagia, Thrombocytopenia	OMIM:139090
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Liddle Syndrome 1	Renal insufficiency, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating ...	OMIM:177200
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Joubert Syndrome With Renal Defect	Renal insufficiency, Apnea, Ataxia, Gait disturbance, Nephropathy, Abnormality of the hypothalamu...	ORPHA:220497
Spinocerebellar Ataxia 32	Azoospermia, Ataxia, Infertility, Testicular atrophy	OMIM:613909
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Focal Myositis	Myositis, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Thymic Carcinoma	Neoplasm of the thymus, Mediastinal lymphadenopathy, Dyspnea, Weight loss, Cough	ORPHA:99868
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Tricuspid regurgitation	OMIM:618652
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia, Pulmonic stenosis	OMIM:618914
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Joubert Syndrome 2	Central apnea, Renal insufficiency, Ataxia, Episodic tachypnea, Renal cyst, Nephronophthisis, Hyp...	OMIM:608091
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce...	ORPHA:90186
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Adams-Oliver Syndrome 2	Microphthalmia, Oligohydramnios	OMIM:614219
Joubert Syndrome 3	Central apnea, Ataxia, Episodic tachypnea, Stage 5 chronic kidney disease, Nephronophthisis, Neon...	OMIM:608629
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Oligohydramnios	ORPHA:228390
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Congenital hypothyroidi...	OMIM:619609
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Cystinuria	Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia	ORPHA:214
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Cachexia, Thyroid carcinoma, Hashimoto thyroiditis, Uterine neoplasm	ORPHA:109
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Steppage gait, Abnormal circulating creatine kinase concentration, Abnormal circulating copper co...	ORPHA:521411
Alpha-Mannosidosis, Infantile Form	Abnormal circulating enzyme concentration or activity, Recurrent urinary tract infections, Pancyt...	ORPHA:309282
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Mucopolysaccharidosis Type 3	Hepatomegaly, Recurrent sinopulmonary infections, Ataxia, Adenoiditis, Heparan sulfate excretion ...	ORPHA:581
Trisomy 13	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Hydrops fetalis	ORPHA:3378
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Weigh...	ORPHA:79078
Cranioectodermal Dysplasia 4	Bone marrow hypocellularity, Decreased nasal nitric oxide, Recurrent pneumonia, Stage 5 chronic k...	OMIM:614378
Tuberous Sclerosis Complex	Respiratory distress, Renal insufficiency, Abnormality of the kidney, Respiratory tract infection...	ORPHA:805
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Decreased beta-galactosidase activity, Urinary glycosaminoglycan excretion, A...	ORPHA:79255
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Vitreoretinochoroidopathy	Microphthalmia, Vitreous hemorrhage, Retinal neovascularization	OMIM:193220
Spinocerebellar Ataxia Type 32	Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy	ORPHA:276183
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Pneumonia, Reduced leukocyte arylsulfatase B activity, Splenomegaly, Recurrent uppe...	OMIM:253200
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular bas...	OMIM:146255
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Reynolds Syndrome	Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Erythema nodosum, Splenomegaly, Jaundice...	OMIM:613471
Roifman-Chitayat Syndrome	Arthritis, Pneumonia, Ectopic kidney	OMIM:613328
Secondary Short Bowel Syndrome	Low plasma citrulline, Enterocolitis, Abnormal blood ion concentration, Cholestasis, Weight loss,...	ORPHA:95427
Malakoplakia	Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Follicular hyperplasia, Or...	ORPHA:556
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasi...	ORPHA:2357
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Joubert Syndrome With Oculorenal Defect	Renal insufficiency, Apnea, Ataxia, Tachypnea, Nephropathy, Abnormality of the hypothalamus-pitui...	ORPHA:2318
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia, Skin rash, Ataxia	ORPHA:220295
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra...	ORPHA:2614
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Increased nuchal translucency, Oligohydramnios	OMIM:618494
Multiple Sulfatase Deficiency	Splenomegaly, Hepatomegaly, Mucopolysacchariduria, Ataxia	OMIM:272200
Irida Syndrome	Intrahepatic cholestasis, Decreased circulating copper concentration	ORPHA:209981
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Lymphadenitis, Salmonella osteomyelitis, Pneumonia	ORPHA:319552
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Neonatal respiratory distress, Psoriasiform dermatitis, Ataxi...	ORPHA:221139
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy...	ORPHA:31150
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Diabetic ketoacidosis, Respiratory failure, Abnormal blood gas lev...	ORPHA:70578
Severe Oculo-Renal-Cerebellar Syndrome	Choreoathetosis, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Loeffler Endocarditis	Pericarditis, Eosinophilia, Dyspnea, Weight loss, Cough, Left ventricular hypertrophy	ORPHA:75566
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Weight loss, Lymphadenopathy	ORPHA:2221
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic ...	ORPHA:416
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Immunoglobulin A Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Pustule, Orchitis, Hem...	ORPHA:761
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Peritoneal Cystic Mesothelioma	Dyspareunia, Metrorrhagia, Peritonitis, Weight loss, Menorrhagia	ORPHA:168816
Hand-Foot-Genital Syndrome	Bifid scrotum, Renal insufficiency, Hypospadias, Uterus didelphys, Micropenis, Pyelonephritis, Ch...	OMIM:140000
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Ascites	OMIM:602361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Autoimmune hemolytic anemia, Sinusitis, Recurrent bronchitis,...	OMIM:251260
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Apnea, Episodic tachypnea, Aspiration pneu...	ORPHA:79264
Rhizomelic Limb Shortening With Dysmorphic Features	Stage 1 chronic kidney disease, Obesity	OMIM:618821
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstit...	OMIM:617050
Classic Pantothenate Kinase-Associated Neurodegeneration	Inability to walk, Weight loss, Tip-toe gait, Gait disturbance, Aspiration pneumonia, Cough	ORPHA:216866
Huntington Disease-Like 2	Bradykinesia, Weight loss	OMIM:606438
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Blue Rubber Bleb Nevus	Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia	OMIM:112200
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Thyroid Lymphoma	Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Lymphadenopathy, Strido...	ORPHA:97285
Helix Syndrome	Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia...	OMIM:617671
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia, Cardiomyopathy	ORPHA:370959
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Mic...	OMIM:300952
Meckel Syndrome, Type 2	Encephalocele, Microphthalmia, Meningocele, Anencephaly	OMIM:603194
Grfoma	Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat...	ORPHA:97261
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100080
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Abnormal lung lobation, Renal cyst, Hypoalbuminemia, Hypocholestero...	OMIM:270400
Temtamy Syndrome	Aortic regurgitation, Microphthalmia	OMIM:218340
Hereditary Bullous Dystrophy, Macular Type	Decreased testicular size, Cryptorchidism, Pneumonia, External genital hypoplasia	ORPHA:1867
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Recurrent respiratory infections, Atelectasis, Dyspnea, A...	ORPHA:538
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Inte...	ORPHA:95430
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Abnormal circulating creatin...	ORPHA:440437
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Papillary cystad...	OMIM:193300
Scorpion Envenomation	Acute pancreatitis, Increased circulating NT-proBNP concentration, Ketonuria, Elevated circulatin...	ORPHA:466677
Myotonic Dystrophy 1	Respiratory distress, Cholelithiasis, Hypogonadism, Testicular atrophy	OMIM:160900
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
22Q11.2 Deletion Syndrome	Abnormal lung lobation, Hypoplasia of the thymus, Hypocalcemia, Abnormality of the uterus, Vesico...	ORPHA:567
Distal Deletion 10Q	Failure to thrive, Ataxia, Patent ductus arteriosus, Functional abnormality of the bladder, Unste...	ORPHA:96148
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Renal insufficiency, Insulin-resistant diabetes mellitus, Type I diabetes mellitus,...	OMIM:226980
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Edema, Retinal hemorrhage, Hypoplasia of the iris...	OMIM:609049
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Joubert Syndrome 21	Apnea, Ataxia, Splenomegaly, Dyspnea, Renal cyst, Respiratory failure, Pulmonary hypoplasia, Hype...	OMIM:615636
Melkersson-Rosenthal Syndrome	Cheilitis, Inflammatory abnormality of the skin, Lymphadenopathy, Oligosacchariduria	ORPHA:2483
Myoclonic Epilepsy Of Lafora	Hepatic failure, Lafora bodies	OMIM:254780
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th...	ORPHA:454831
Joubert Syndrome 14	Encephalocele, Meningocele, Intracranial hemorrhage, Hypertension, Microphthalmia	OMIM:614424
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ...	OMIM:610910
Occipital Horn Syndrome	Recurrent urinary tract infections, Jaundice, Hepatitis, Cholestasis, Bladder diverticulum, Esoph...	ORPHA:198
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Mitochondrial Complex I Deficiency, Nuclear Type 29	Dyspnea, Stage 5 chronic kidney disease, Lacticaciduria, Hyperalaninemia, Failure to thrive, Mito...	OMIM:618250
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Increased circulating lactate dehydrogenase concentration...	OMIM:309000
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Zinc Deficiency, Transient Neonatal	Decreased serum zinc, Eczema	OMIM:608118
Achard Syndrome	Broad skull, Brachycephaly	OMIM:100700
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Leukocytosis, Renal hypoplasia, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Micropenis,...	OMIM:619321
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Pancytopenia, Fasciitis, Phimosis, Urinary bladder inflammation, D...	ORPHA:99921
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Bardet-Biedl Syndrome 17	Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Hypogonadism, Micropenis	OMIM:615994
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia	ORPHA:85284
Hennekam-Beemer Syndrome	Mastocytosis, Failure to thrive, Pneumonia, Respiratory insufficiency	ORPHA:2135
Huntington Disease-Like 1	Dysmetria, Weight loss, Bradykinesia, Gait ataxia, Gait disturbance	ORPHA:157941
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal neovascularization	OMIM:305390
Renal Agenesis	Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,...	ORPHA:411709
Meckel Syndrome, Type 1	Accessory spleen, Hypoplasia of the bladder, Renal agenesis, External genital hypoplasia, Malform...	OMIM:249000
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Ataxia, Peritonitis, Lymphadenopathy, Arthritis, Recurrent aphthous stomatitis	ORPHA:343
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100082
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Cardiomegaly, Abnormal t...	ORPHA:904
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo...	ORPHA:913
Mycosis Fungoides	Psoriasiform dermatitis, Eczema, Lymphadenopathy	OMIM:254400
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Abnormality of the kidney, Iron deficiency anemia, Hepatoblastoma, Spastic gait, Airway obstruction	ORPHA:261584
Complement Factor B Deficiency	Peritonitis, Pneumonia	OMIM:615561
Mucolipidosis Type Ii	Respiratory failure requiring assisted ventilation, Recurrent respiratory infections, Splenomegal...	ORPHA:576
Meckel Syndrome, Type 4	Encephalocele, Microphthalmia, Meningocele, Anencephaly	OMIM:611134
Chronic Hiccup	Weight loss	ORPHA:396
Hermansky-Pudlak Syndrome 1	Renal insufficiency, Epistaxis, Restrictive ventilatory defect, Inflammation of the large intesti...	OMIM:203300
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta	OMIM:169550
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst...	OMIM:614227
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss	ORPHA:99978
Baraitser-Winter Syndrome 1	Microphthalmia, Aortic valve stenosis	OMIM:243310
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Lymphadenopathy, Neutropenia, Lym...	OMIM:617827
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Exocrine pancreatic ins...	ORPHA:309031
Heart And Brain Malformation Syndrome	Microphthalmia, Polyhydramnios	OMIM:616920
Inflammatory Bowel Disease (Crohn Disease) 1	Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit...	OMIM:266600
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Renal hypoplasia	OMIM:612918
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Hepatic cysts	OMIM:613819
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Heart murmur	ORPHA:2728
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, At...	ORPHA:2750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Meconium Aspiration Syndrome	Respiratory distress, Maternal diabetes, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, ...	ORPHA:70588
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Isaacs Syndrome	Weight loss	ORPHA:84142
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Cystic Fibrosis	Elevated hepatic transaminase, Recurrent respiratory infections, Sinusitis, Absent vas deferens, ...	ORPHA:586
Hereditary Central Diabetes Insipidus	Lethargy, Diabetes insipidus, Weight loss	ORPHA:30925
Malignant Peritoneal Mesothelioma	Dyspnea, Peritonitis, Ascites, Weight loss	ORPHA:168811
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Acute Transverse Myelitis	Decreased circulating copper concentration, Urinary incontinence, Abscess, Urinary retention, Gai...	ORPHA:139417
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Abscess, Chronic kidney disease, Aplasia of the sweat glands, Difficult...	ORPHA:642
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
Sotos Syndrome	Ureteral duplication, Chronic otitis media, Vesicoureteral reflux, Hypothyroidism, Hypospadias, A...	ORPHA:821
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen...	ORPHA:97278
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera...	ORPHA:322
Calciphylaxis	Hyperphosphatemia, Stage 5 chronic kidney disease, Secondary hyperparathyroidism	ORPHA:280062
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Partial anomalous pulmonary venous return, Elevated circulating creatinine c...	OMIM:617478
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Elevated circulating alpha-fetoprotein concentration, Patent ductus arteriosus, Hype...	ORPHA:280633
Plague	Respiratory distress, Hepatomegaly, Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymph...	ORPHA:707
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Infantile Neuroaxonal Dystrophy	Ataxia, Unsteady gait, Apneic episodes in infancy, Gait disturbance, Aspiration pneumonia, Increa...	ORPHA:35069
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Patent ductus arteriosus, Horses...	ORPHA:391641
Carney Triad	Mediastinal lymphadenopathy, Adrenal overactivity, Lymphadenopathy, Pheochromocytoma, Adrenocorti...	ORPHA:139411
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Rodrigues Blindness	Microphthalmia	OMIM:268320
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Ataxia, Dysmetria, Gait ataxia, Urinary urgency, Dysdiadochok...	ORPHA:99027
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Crazy paving pattern, Crackles, Dyspnea, Intraalveola...	ORPHA:747
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hepatic hemangioma, Penile hypospadias, Recurrent as...	ORPHA:73230
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,...	ORPHA:677
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, B lymphocytopenia, Conjunc...	OMIM:601495
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Williams-Beuren Syndrome	Nephrocalcinosis, Early onset of sexual maturation, Vesicoureteral reflux, Micropenis, Pelvic kid...	OMIM:194050
Moebius Syndrome	Microphthalmia	OMIM:157900
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Cryptorchidism, Renal h...	ORPHA:93271
Marfan Syndrome	Arthralgia/arthritis, Spontaneous pneumothorax, Cachexia, Emphysema, Pulmonary artery dilatation,...	ORPHA:558
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Perry Syndrome	Hypoventilation, Central hypoventilation, Akinesia, Respiratory insufficiency, Weight loss, Brady...	OMIM:168605
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Iron deficiency anemia, Abnormal circulating osteocalcin level, Increased urinary type 1 collagen...	ORPHA:93315
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Buphthalmos, Macular hypoplasia, Microphthalmia, Hemorrhage of the eye	ORPHA:91495
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Polyhydramnios	ORPHA:3301
Rere-Related Neurodevelopmental Syndrome	Microphthalmia	ORPHA:494344
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi, Hyphema	OMIM:221900
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Ataxia, Neonatal insulin-dependent diabetes mellitus, Abnormality o...	ORPHA:99885
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:259900
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia	ORPHA:1791
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Abnorma...	OMIM:275000
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal insufficiency, Renal agenesis, Ectopic kidney, Pulmonary artery stenosis, Horseshoe kidney,...	ORPHA:140952
Lafora Disease	Nasogastric tube feeding, Hepatic failure, Lafora bodies	ORPHA:501
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce...	OMIM:613239
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Juvenile Dermatomyositis	Calcinosis, Myositis, Pericarditis, Skin rash, Elevated circulating creatine kinase concentration...	ORPHA:93672
Fatal Familial Insomnia	Urinary retention, Apnea, Ataxia, Weight loss	OMIM:600072
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Umbilical hernia, Bilateral microphthalmos	ORPHA:369891
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
8P23.1 Microdeletion Syndrome	Hypospadias, Cryptorchidism, Pulmonary artery stenosis, Patent ductus arteriosus, Obesity, Weight...	ORPHA:251071
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Polyhydramnios, Edema	OMIM:302960
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Stickler Syndrome	Recurrent respiratory infections, Cachexia, Osteoarthritis, Uveitis, Chronic otitis media, Slende...	ORPHA:828
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Pulmonary hypoplasia	OMIM:601163
3P25.3 Microdeletion Syndrome	Microphthalmia, Pulmonic stenosis	ORPHA:435638
Martsolf Syndrome 1	Microphthalmia, Congestive heart failure, Cardiac arrest, Cardiomyopathy	OMIM:212720
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Mosaic Trisomy 9	Spina bifida, Polyhydramnios, Hydrops fetalis, Microphthalmia, Oligohydramnios	ORPHA:99776
Rheumatoid Arthritis	Rheumatoid arthritis, Elevated circulating C-reactive protein concentration, Weight loss	OMIM:180300
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the lung, Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Mohr-Tranebjaerg Syndrome	Inability to walk, Shuffling gait, Aspiration pneumonia	ORPHA:52368
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Cranial asymmetry	ORPHA:137634
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Fanconi Anemia, Complementation Group I	Microphthalmia, Optic nerve hypoplasia	OMIM:609053
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Decreased circulating 12-HETE, Abnormal circulating eicosanoid concentrat...	OMIM:618372
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Glutaryl-Coa Dehydrogenase Deficiency	Abnormal circulating enzyme concentration or activity, Ataxia, Glutaric aciduria, Chronic kidney ...	ORPHA:25
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Pulmonary arterial hypertension	OMIM:616449
Wiedemann-Rautenstrauch Syndrome	Recurrent respiratory infections, Hypertriglyceridemia, Hypospadias, Pneumonia, Small for gestati...	OMIM:264090
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Hypokalemia, Hyperthyroidism, Weight loss	OMIM:188580
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Mediastinal lymphadenopathy, Pulmonary capillary he...	ORPHA:199241
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur...	OMIM:304150
Bullous Pemphigoid	Diabetes mellitus, Psoriasiform dermatitis, Eczema, Weight loss	ORPHA:703
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Decreased liver function	OMIM:614863
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Broad-based gait, Small scrotum, Eczema, Hair-pulling, Asthma, Recurrent pneumonia, Hypocalcemia,...	OMIM:620330
Malignant Atrophic Papulosis	Peritonitis, Weight loss, Respiratory failure, Arteritis, Pleural effusion, Abnormality of the lo...	ORPHA:679
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly	OMIM:231005
Seckel Syndrome	Cachexia	ORPHA:808
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Corneal neovascularization, Telangiectasia	OMIM:278730
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Non-medullary thyroid carcinoma, Male hypo...	ORPHA:273
Congenital Tufting Enteropathy	Weight loss, Arthritis, Cholestatic liver disease, Punctate keratitis, Failure to thrive	ORPHA:92050
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia, Oligohydramnios	OMIM:613451
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia, Spina bifida, Polyhydramnios	ORPHA:3412
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Hypoplasia of the bladder, Recurrent urinary tract infections, Mul...	OMIM:614527
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Incontinentia Pigmenti	Telangiectasia of the skin, Congestive heart failure, Retinal hemorrhage, Pulmonary arterial hype...	ORPHA:464
Microcephaly-Micromelia Syndrome	Microphthalmia, Oligohydramnios	OMIM:251230
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Cry...	ORPHA:353281
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Secondary amenorrhea, Gait ataxi...	OMIM:157640
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Microphthalmia, Anencephaly, Pulmonic stenosis	OMIM:619148
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Erythroderma	ORPHA:312
Coffin-Siris Syndrome	Hypospadias, Cryptorchidism, Patent ductus arteriosus, Recurrent upper respiratory tract infectio...	ORPHA:1465
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Opitz Gbbb Syndrome	Bifid scrotum, Enlarged ovaries, Hypospadias, Tracheomalacia, Cryptorchidism, Patent ductus arter...	ORPHA:2745
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Monosomy 22Q13.3	Recurrent skin infections, Hair-pulling, Obesity, Hydronephrosis, Vesicoureteral reflux, Recurren...	ORPHA:48652
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Kabuki Syndrome 1	Hemolytic anemia, Crossed fused renal ectopia, Premature thelarche, Autoimmune thrombocytopenia, ...	OMIM:147920
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia, Dilated cardiomyopathy, Pulmonic stenosis	OMIM:253800
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
X-Linked Dystonia-Parkinsonism	Bradykinesia, Difficulty walking, Shuffling gait, Aspiration pneumonia	ORPHA:53351
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Stage 5 chronic kidney dis...	OMIM:608612
Liposarcoma	Abnormality of the kidney, Weight loss	ORPHA:69078
Au-Kline Syndrome	Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Ves...	OMIM:616580
Mosaic Trisomy 1	Microphthalmia, Increased nuchal translucency, Polyhydramnios	ORPHA:1692
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of the thyroid gland, Cachexia	ORPHA:1969
Enamel-Renal Syndrome	Increased circulating osteocalcin level, Renal insufficiency, Hypophosphaturia, Impaired renal co...	ORPHA:1031
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Hydrometrocolpos, Hor...	OMIM:617088
Miller-Dieker Lissencephaly Syndrome	Cryptorchidism, Failure to thrive, Pelvic kidney, Recurrent aspiration pneumonia	OMIM:247200
Cranioectodermal Dysplasia 3	Peripheral pulmonary artery stenosis, Cirrhosis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:614099
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Aspiration pneumonia	ORPHA:95232
Frontorhiny	Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele	ORPHA:391474
Geleophysic Dysplasia 3	Dyspnea, Hepatomegaly, Respiratory failure, Pneumonia	OMIM:617809
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat...	ORPHA:668
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Weight loss	OMIM:191390
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Hirschsprung Disease	Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss	ORPHA:388
Reactive Arthritis	Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pust...	ORPHA:29207
Costello Syndrome	Renal insufficiency, Pneumothorax, Respiratory insufficiency, Respiratory failure, Tracheomalacia...	OMIM:218040
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Atelis Syndrome 2	Microphthalmia, Vitreous hemorrhage, Pulmonic stenosis, Supravalvar pulmonary stenosis	OMIM:620185
Aspartylglucosaminuria	Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Macroorchidism, Splenomeg...	ORPHA:93
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Breast aplasia	OMIM:181270
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
3Q29 Microdeletion Syndrome	Microphthalmia, Pulmonary arterial hypertension	ORPHA:65286
Joubert Syndrome 5	Central apnea, Ataxia, Episodic tachypnea, Impaired renal concentrating ability, Stage 5 chronic ...	OMIM:610188
Neurooculorenal Syndrome	Hypoplasia of the bladder, Decreased circulating cortisol level, Ectopic posterior pituitary, Uni...	OMIM:620305
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Marshall-Smith Syndrome	Apnea, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosus, Recurrent upper respir...	OMIM:602535
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Perry Syndrome	Central hypoventilation, Weight loss	ORPHA:178509
Hereditary Late-Onset Parkinson Disease	Akinesia, Spastic/hyperactive bladder, Weight loss, Bradykinesia, Shuffling gait	ORPHA:411602
Lynch Syndrome	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Weight loss, Ovarian neop...	ORPHA:144
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Ataxia, Respiratory insufficiency, Gait ataxia, Dysmetria, Weight loss, Progres...	OMIM:607459
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion	ORPHA:2526
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Myocarditis, Abno...	ORPHA:221
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Telangiectasia	OMIM:601675
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bilateral cryptorchidism, Patent ductus arteriosus, Recurrent pneumonia, Recurrent aspiration pne...	OMIM:300472
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Abnormality of...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Abnormality of...	ORPHA:353277
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Polyhydramnios, Increased nuchal translucency, Microphthalmia, Ascites	ORPHA:1052
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Aplasia of the sweat glands, Failur...	OMIM:612132
Cap Polyposis	Atrophic gastritis, Weight loss	ORPHA:160148
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, ...	ORPHA:857
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Cornelia De Lange Syndrome	Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidi...	ORPHA:199
Micro Syndrome	Microphthalmia	ORPHA:2510
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Hallermann-Streiff Syndrome	Spina bifida, Telangiectasia, Hypertension, Pulmonary arterial hypertension, Microphthalmia	OMIM:234100
Mycophenolate Mofetil Embryopathy	Microphthalmia, Hydrops fetalis	ORPHA:268249
Fryns Syndrome	Microphthalmia, Polyhydramnios	ORPHA:2059
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Microphthalmia, Umbilical hernia, Polyhydramnios	ORPHA:2166
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Schimmelpenning-Feuerstein-Mims Syndrome	Growth delay, Cranial asymmetry, Short stature	OMIM:163200
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Cat Eye Syndrome	Microphthalmia, Umbilical hernia, Pulmonic stenosis	OMIM:115470
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Tracheomalacia, Patent ductus...	ORPHA:444077
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Respiratory distress, Adrenal hyperplasia, Con...	ORPHA:79500
Acquired Central Diabetes Insipidus	Pollakisuria, Diabetes insipidus, Weight loss	ORPHA:95626
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Oligohydramnios	ORPHA:364577
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Pulmonary arterial hypertension	ORPHA:464738
Norrie Disease	Diabetes mellitus, Cachexia, Cryptorchidism, Uterine rupture, Erectile dysfunction, Delayed puber...	ORPHA:649
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia	OMIM:601812
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Oculopharyngodistal Myopathy 1	Respiratory distress, Ataxia, Elevated circulating creatine kinase concentration, Hypercapnia, Re...	OMIM:164310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Pseudotrisomy 13 Syndrome	Encephalocele, Microphthalmia	OMIM:264480
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Duane-Radial Ray Syndrome	Microphthalmia, Spina bifida occulta, Optic disc hypoplasia	OMIM:607323
Holoprosencephaly	Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Microphthalmia, Arrhythmia	ORPHA:2162
Combined Oxidative Phosphorylation Deficiency 25	Failure to thrive, Reduced circulating growth hormone concentration, Aspiration pneumonia	OMIM:616430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia	OMIM:236670
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Acrodermatitis Enteropathica	Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis	ORPHA:37
Curry-Jones Syndrome	Occipital meningocele, Microphthalmia, Lipomyelomeningocele	OMIM:601707
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Pelvis-Shoulder Dysplasia	Hydranencephaly, Bilateral microphthalmos, Spina bifida	ORPHA:2839
Wrinkly Skin Syndrome	Recurrent sinopulmonary infections, Cryptorchidism, Progressive cerebellar ataxia, High noncerulo...	ORPHA:2834
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia, Retinal hemorrhage	OMIM:308300
Fraser Syndrome 2	Microphthalmia, Oligohydramnios	OMIM:617666
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Microphthalmia, Arrhythmia, Junctional ectopic tachycardia	OMIM:309801
Arboleda-Tham Syndrome	Respiratory distress, Recurrent respiratory infections, Recurrent urinary tract infections, Neona...	OMIM:616268
Cohen Syndrome	Microphthalmia	ORPHA:193
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Townes-Brocks Syndrome 1	Bifid scrotum, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Sm...	OMIM:107480
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Arthrogryposis, Distal, Type 4	Cranial asymmetry	OMIM:609128
Microphthalmia, Syndromic 3	Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia	OMIM:206900
Fontaine Progeroid Syndrome	Small scrotum, Small for gestational age, Absent nipple, Cryptorchidism, Patent ductus arteriosus...	OMIM:612289
Gerstmann-Straussler Disease	Limb ataxia, Weight loss, Bradykinesia, Gait ataxia, Truncal ataxia	OMIM:137440
Teebi-Shaltout Syndrome	Microphthalmia, Aortic valve stenosis	OMIM:272950
Chikungunya	Maculopapular exanthema, Skin rash, Epistaxis, Erythema nodosum, Cervical lymphadenopathy, Crusti...	ORPHA:324625
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Urinary incontinence, Hypopnea, Restrictive ventilatory defect, Aspiratio...	OMIM:619482
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Recurrent respiratory infections, Hair-pulling, Urinary incontinence	ORPHA:447997
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Yunis-Varon Syndrome	Polyhydramnios, Increased nuchal translucency, Bilateral microphthalmos, Hydrops fetalis, Renovas...	ORPHA:3472
Cousin Syndrome	Hydranencephaly, Microphthalmia	OMIM:260660
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Respiratory t...	ORPHA:79138
Floating-Harbor Syndrome	Broad-based gait, Hypospadias, Renal agenesis, Small for gestational age, Precocious puberty, Cry...	ORPHA:2044
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia	ORPHA:77301
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Adams-Oliver Syndrome 1	Encephalocele, Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Microphthalmia, ...	OMIM:100300
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Microphthalmia, Optic nerve hypoplasia, Spina bifida	ORPHA:508498
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Microphthalmia	OMIM:616300
Neu-Laxova Syndrome 1	Spina bifida, Polyhydramnios, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalm...	OMIM:256520
Short Syndrome	Diabetes mellitus, Weight loss	ORPHA:3163
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
1Q21.1 Microdeletion Syndrome	Microphthalmia	ORPHA:250989
Oculodentodigital Dysplasia	Microphthalmia, Arrhythmia	OMIM:164200
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Oromandibular Dystonia	Respiratory distress, Weight loss	ORPHA:93958
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Hallermann-Streiff Syndrome	Microphthalmia, Congestive heart failure	ORPHA:2108
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Microphthalmia, Pulmonary arterial hypertension, Polyhydramnios	OMIM:620186
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Anophthalmia, Dilated cardiomyopathy, Mitral regurgitation, Arrhythmia, ...	ORPHA:2556
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos, Pulmonic stenosis	OMIM:601186
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia	OMIM:223370
Myhre Syndrome	Pericardial effusion, Microphthalmia, Aortic valve stenosis, Hypertension	OMIM:139210
Basal Cell Nevus Syndrome 1	Microphthalmia, Spina bifida	OMIM:109400
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia	OMIM:147791
Trichothiodystrophy	Umbilical hernia, Bilateral microphthalmos, Cardiomyopathy	ORPHA:33364
Semilobar Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma...	ORPHA:93924
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Telangiectasia	OMIM:268400
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Holoprosencephaly 7	Frontal bossing, Flat occiput, Cranial asymmetry, Occipital meningocele, Parietal bossing, Midfac...	OMIM:610828
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Fryns Syndrome	Microphthalmia, Chylothorax, Polyhydramnios	OMIM:229850
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Treacher-Collins Syndrome	Encephalocele, Microphthalmia, Branchial fistula	ORPHA:861
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Roberts Syndrome	Microphthalmia, Polyhydramnios	ORPHA:3103
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Microphthalmia, Syndromic 2	Anophthalmia, Phthisis bulbi, Umbilical hernia, Pulmonic stenosis, Microphthalmia, Aortic valve s...	OMIM:300166
Mend Syndrome	Microphthalmia, Aortic valve stenosis	ORPHA:401973
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Oligohydramnios	OMIM:608670
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Aicardi Syndrome	Microphthalmia, Spina bifida	OMIM:304050
Bartsocas-Papas Syndrome 1	Microphthalmia	OMIM:263650
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia	OMIM:616975
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Aicardi Syndrome	Microphthalmia	ORPHA:50
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Focal Dermal Hypoplasia	Anophthalmia, Myelomeningocele, Telangiectasia, Umbilical hernia, Aniridia, Microphthalmia, Spina...	OMIM:305600
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi...	ORPHA:424
Charge Syndrome	Microphthalmia, Anophthalmia, Polyhydramnios	ORPHA:138
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Umbilical hernia	OMIM:613884
Hutchinson-Gilford Progeria Syndrome	Female hypogonadism, Decreased serum leptin, Osteoarthritis, Upper airway obstruction, Weight los...	ORPHA:740
Monosomy 9P	Microphthalmia	ORPHA:261112
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi	OMIM:259770
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebral hemorrhage, Retinal hemorrhage, Hypoplasia of the iris, Ischemic stroke, Microphthalmia,...	OMIM:175780
Intellectual Developmental Disorder, Autosomal Dominant 38	Hair-pulling, Ataxia	OMIM:616393
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Fraser Syndrome	Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia	ORPHA:2052
Charge Syndrome	Anophthalmia, Polyhydramnios, Unilateral microphthalmos, Umbilical hernia, Pulmonic stenosis, Mic...	OMIM:214800
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
Witteveen-Kolk Syndrome	Intracranial hemorrhage, Microphthalmia, Polyhydramnios, Branchial fistula	OMIM:613406
Familial Gestational Hyperthyroidism	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:99819
Hydrolethalus Syndrome 1	Microphthalmia, Anencephaly, Polyhydramnios	OMIM:236680
Adenocarcinoma Of The Anal Canal	Neoplasm of the lung, Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
8Q24.3 Microdeletion Syndrome	Branchial cyst, Gastrointestinal hemorrhage, Optic nerve hypoplasia, Bilateral microphthalmos, Sp...	ORPHA:508488
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Microphthalmia	OMIM:612474
Neuroocular Syndrome	Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:619539
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Trichotillomania	Hair-pulling	OMIM:613229
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Pallister-Hall Syndrome	Microphthalmia, Umbilical hernia, Oligohydramnios	ORPHA:672
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos	OMIM:219000
Yunis-Varon Syndrome	Absent nipple, Hypospadias, Small for gestational age, Failure to thrive in infancy, Cryptorchidi...	OMIM:216340
Carney-Stratakis Syndrome	Paraganglioma, Weight loss	ORPHA:97286
Wiedemann-Rautenstrauch Syndrome	Frontal bossing, Short stature, Cranial asymmetry, Growth delay, Severe intrauterine growth retar...	ORPHA:3455
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Branchiooculofacial Syndrome	Microphthalmia, Branchial anomaly, Anophthalmia	OMIM:113620
Mowat-Wilson Syndrome	Microphthalmia, Pulmonic stenosis	OMIM:235730
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Roberts-Sc Phocomelia Syndrome	Microphthalmia, Frontal encephalocele, Polyhydramnios	OMIM:268300
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Aortic valve stenosis, Hyphema, Pulmonic stenosis	ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Aortic valve stenosis, Pulmonic stenosis	ORPHA:261537
Mowat-Wilson Syndrome	Microphthalmia, Aortic valve stenosis, Pulmonic stenosis	ORPHA:2152
Craniofacial Microsomia 1	Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly	OMIM:164210
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia	OMIM:309800
Pulmonary Disease, Chronic Obstructive	Chronic pulmonary obstruction	OMIM:606963

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 Hmox1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Hmox1.

No publications found that use IMPC mice or data for Hmox1.

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MGI Allele	Allele Type	Produced
Hmox1^{tm48317(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Hmox1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

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: Hmox1 MGI:96163

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

MicroCT E18.5

Gross Morphology Embryo E14.5-E15.5

X-ray

MicroCT E14.5-E15.5

Gross Morphology Embryo E18.5

Human diseases caused by Hmox1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data