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

120 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 Lateral Orientation

40 Images

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MicroCT E18.5

Embryo reconstruction

4 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 (2733 diseases)

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

Disease	Matching phenotypes	Source
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Hepatomegaly, Hematuria, Lymphadenopathy, Elevated ...	OMIM:614034
Cystic Fibrosis	Pneumothorax, Absent vas deferens, Cirrhosis, Decreased body mass index, Elevated circulating hep...	ORPHA:586
Pulmonary Disease, Chronic Obstructive		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	Pure red cell aplasia, Steroid-responsive anemia	OMIM:617911
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent sinusitis, Splenomegaly, Stage 5 chronic kidney disease, Hepatosplenomegaly, Increased ...	OMIM:615559
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Nephrotic Syndrome, Type 7	Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr...	OMIM:615008
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia	OMIM:618310
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Immunodeficiency 91 And Hyperinflammation	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:619644
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Seconda...	OMIM:613313
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope...	OMIM:615285
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Lower limb amyotrophy, At...	OMIM:300257
Igg4-Related Retroperitoneal Fibrosis	Renal tubular epithelial necrosis, Deep dermal perivascular inflammatory infiltrate, Impotence, E...	ORPHA:49041
Beta-Thalassemia	Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Thrombocytopenia, Splenome...	ORPHA:848
Hepatocellular Carcinoma	Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis	OMIM:114550
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Increased circ...	OMIM:613673
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis	OMIM:613783
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Respiratory tract infection...	ORPHA:444463
Acyl-Coa Dehydrogenase 9 Deficiency	Prolonged prothrombin time, Congestive heart failure, Cerebellar hemorrhage, Elevated circulating...	ORPHA:99901
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Recurrent respiratory infections, Decreased proportion of class-sw...	OMIM:619375
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Beta-Thalassemia Intermedia	Decreased liver function, Proximal tubulopathy, Anemia of inadequate production, Splenomegaly, Hy...	ORPHA:231222
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Elevated circulating C-reactive protein concentration, Pancytopenia, Sterile abscess, Arthritis, ...	OMIM:604416
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Pancytopenia, Chilblains, G...	OMIM:619858
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase activity	OMIM:615909
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, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Focal Segmental Glomerulosclerosis 1	Anemia, Hyperlipidemia, Ascites, Focal segmental glomerulosclerosis, Pleural effusion, Hyperechog...	OMIM:603278
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Death in childhood, Elevated circulating hepatic transaminase concentra...	OMIM:611126
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Dominant Beta-Thalassemia	Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Jaundice...	ORPHA:231226
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmon...	ORPHA:422
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Recurrent respiratory infections, Nephrotic range proteinuria, Abn...	OMIM:613496
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies	OMIM:140700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia, Pneumonia, Glomerulonephritis	OMIM:247800
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Majeed Syndrome	Delayed puberty, Skin rash, Anemia of inadequate production, Failure to thrive, Hepatosplenomegal...	OMIM:609628
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume	OMIM:205950
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, El...	OMIM:617056
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating lactate dehy...	OMIM:278000
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Abnormality of iron homeostasis, Anemia,...	ORPHA:75563
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Glomerular C3 deposition, Arthritis, Skin rash, Abnormal glomerular mesangiu...	ORPHA:567544
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Refractory Celiac Disease	Normocytic anemia, Elevated alkaline phosphatase of bone origin, Elevated circulating hepatic tra...	ORPHA:398063
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Congestive heart failure, Elevated circulating tetradecanoylcarnitine concentration, Elevated cir...	OMIM:619355
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Folliculitis...	OMIM:300635
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Increased serum bile acid concen...	OMIM:616278
Majeed Syndrome	Glomerulopathy, Hepatomegaly, Hypochromic microcytic anemia, Acne, Cachexia, Leukocytosis, Synovi...	ORPHA:77297
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated circulating hepatic transaminase concentration, Abnormality of the endocrine system, Cac...	ORPHA:37042
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte adenylate kinase activity, Hemolytic anemia	OMIM:612631
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, Po...	OMIM:617006
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Inability to walk, Bone-marrow foam cells,...	OMIM:257200
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Broad-based gait, Elevated circulating alanine aminotransferase conce...	OMIM:618805
Coronary Arterial Fistula	Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent...	ORPHA:2041
Aicardi-Goutieres Syndrome 9	Elevated circulating hepatic transaminase concentration, Ascites, Chilblains, Pericarditis, Left ...	OMIM:619487
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail...	OMIM:614480
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Elevated circulating hepatic tr...	OMIM:619013
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia, Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hyp...	OMIM:613092
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Arthritis, Decreased FOXP3-expressing T cell count, Eczematoid dermatiti...	OMIM:304790
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Arthritis, Infertility, Increased circulating iron concentr...	OMIM:602390
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Hemochromatosis, Type 3	Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentration, Arthritis, Impotence,...	OMIM:604250
Peripartum Cardiomyopathy	Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro...	ORPHA:563
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hypothyroidism, Recurrent...	OMIM:619750
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal tubular epithelial necrosis, Reduced tissue carnitine O-palmitoyltransferase 2 activity, My...	ORPHA:228302
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent tonsillitis, Nephrotic syndrome, Recurrent pneumonia, Membranoproliferative glomerulone...	OMIM:613779
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase II, Hyperbilirubinemia, Macrocytic...	OMIM:224120
Cystic Echinococcosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Abnormal subp...	ORPHA:400
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Increased erythrocyte protoporphyrin concentration, Anemia, Hypochromic microcytic anemia, Howell...	OMIM:301310
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Primary Membranoproliferative Glomerulonephritis	Acute kidney injury, Glomerular subendothelial electron-dense deposits, Nephrotic syndrome, Micro...	ORPHA:54370
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:829
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transaminase concentra...	ORPHA:79303
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,...	OMIM:253700
Atrial Fibrillation, Familial, 10	Left atrial enlargement, Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent a...	OMIM:614022
Cardiomyopathy, Dilated, 1R	Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper...	OMIM:613424
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Symptomatic Form Of Hfe-Related Hemochromatosis	Erectile dysfunction, Decreased libido, Splenomegaly, Cardiomegaly, Hepatocellular carcinoma, Por...	ORPHA:465508
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Decreased liver function, Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating...	ORPHA:367
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hepatomegaly, Reduced tissue carnitine O-palmitoyltransferase ...	ORPHA:157
Combined Oxidative Phosphorylation Deficiency 30	Decreased liver function, Gastroesophageal reflux, Polymicrogyria, Poor suck, Hyperalaninemia, El...	OMIM:616974
3-Methylglutaconic Aciduria, Type V	3-Methylglutaconic aciduria, Hypospadias, Microvesicular hepatic steatosis, Elevated circulating ...	OMIM:610198
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, Renal insufficiency, Redu...	ORPHA:228308
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Hyperammonemia, Failure to thrive, Thrombocytopenia, Splenome...	ORPHA:79312
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Cachexia, Leukocytosis, Port...	ORPHA:824
Papular Xanthoma	Histiocytosis	ORPHA:158008
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Automatic atrial tachycardia, Atrial fibrillation, Supr...	ORPHA:99105
Hepatitis Delta	Cirrhosis, Jaundice, Fulminant hepatitis, Hepatocellular carcinoma, Elevated circulating alanine ...	ORPHA:402823
Lipodystrophy, Partial, Acquired, Susceptibility To	Abnormal circulating lipid concentration, Hematuria, Nephrotic syndrome, Proteinuria, Membranopro...	OMIM:608709
Reni Syndrome	Hypertriglyceridemia, Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephr...	OMIM:617575
Sickle Cell Anemia	Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus...	ORPHA:232
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen,...	OMIM:613845
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiac arrest, Cardiomyop...	OMIM:617713
Lysinuric Protein Intolerance	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Argininuria, Elevated circulating ...	ORPHA:470
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Patent ductus arteriosus...	OMIM:617303
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	3-Methylglutaconic aciduria, Hepatomegaly, Renal hypoplasia, Anisocytosis, Failure to thrive, Ami...	OMIM:604273
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Pancytopenia, Hyper...	OMIM:617872
Immunodeficiency 104	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Failure to thrive secondary to recurrent i...	OMIM:608971
Mitochondrial Dna Depletion Syndrome 18	Falls, Failure to thrive, Elevated urinary quinolinic acid level, Microcytic anemia, Lacticaciduria	OMIM:618811
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Anemia, Hematuria, Increased mean corpuscular volume, Ascites, Siderobl...	OMIM:617021
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Left Ventricular Noncompaction 10	Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en...	OMIM:615396
Coenzyme Q10 Deficiency, Primary, 1	Anemia, Glomerular sclerosis, Recurrent myoglobinuria, Pancytopenia, Elevated circulating creatin...	OMIM:607426
C3 Glomerulopathy 3	Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo...	OMIM:614809
Senior-Boichis Syndrome	Tubular luminal dilatation, Elevated circulating hepatic transaminase concentration, Cholestasis,...	ORPHA:84081
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Abnormal circulating lactate dehydrogenase concentration, Anemia of inadequate production, Poikil...	ORPHA:67044
H Syndrome	Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Delayed puberty, Lymphadenopath...	ORPHA:168569
X-Linked Agammaglobulinemia	Chronic otitis media, Anemia, Hypocalcemia, Abnormality of the tonsils, Abnormality of the lympha...	ORPHA:47
Cleidocranial Dysplasia, Recessive Form	Brachycephaly, Severe short stature	OMIM:216330
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Autosomal Erythropoietic Protoporphyria	Decreased liver function, Cirrhosis, Cholelithiasis, Eczematoid dermatitis, Abnormal circulating ...	ORPHA:79278
Macrophage Activation Syndrome	Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal ...	ORPHA:158061
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Portal fibrosis, Elevated circulat...	ORPHA:264580
Left Ventricular Noncompaction 8	Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat...	OMIM:615373
Glycogen Storage Disease Iv	Cirrhosis, Hydrops fetalis, Polyhydramnios, Abnormal circulating creatine kinase concentration, B...	OMIM:232500
Left Ventricular Noncompaction 7	Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction	OMIM:615092
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia, Hyperammonemia, Failure to thrive, Renal insufficiency, Lethargy	ORPHA:28
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Reticular pattern on pulmonary HRCT, Iron deficiency anemia, Failure to thrive, Hep...	ORPHA:99931
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Impotence, Diabetes mellitus, Osteoarthritis, Elevated transferr...	OMIM:606069
Hjv Or Hamp-Related Hemochromatosis	Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Elevated circulati...	ORPHA:79230
Hemochromatosis, Neonatal	Cirrhosis, Abnormality of iron homeostasis, Cholestasis, Hepatocellular necrosis, Prolonged neona...	OMIM:231100
Beta-Thalassemia Major	Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume...	ORPHA:231214
Complement Component 4B Deficiency	Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Chronic active hepatitis	OMIM:614379
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Atopic dermatitis, Nephrotic syndrome, Failure to thrive, Hypoth...	OMIM:618999
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Decreased HDL cholesterol concentration, Decreased glomerular filtratio...	ORPHA:85450
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Pleural effusion, Reticu...	ORPHA:846
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Brucellosis	Bronchitis, Granuloma, Pericarditis, Intrarenal abscess, Leukopenia, Splenomegaly, Anterior uveit...	ORPHA:1304
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Recurrent p...	ORPHA:549
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V...	OMIM:615895
Chromosome 5Q Deletion Syndrome	Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia	OMIM:153550
Nephrotic Syndrome, Type 9	Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r...	OMIM:615573
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn...	ORPHA:2394
Congenital Disorder Of Glycosylation, Type Iij	Frontotemporal cerebral atrophy, Cerebral atrophy, Cirrhosis, Hepatomegaly, Elevated circulating ...	OMIM:613489
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Elevated alkaline phosphatase of bone origin, Cirrhosis, Elevated circ...	OMIM:616828
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Drug-Induced Lupus Erythematosus	Hematuria, Anemia, Elevated circulating C-reactive protein concentration, Malar rash, Elevated ci...	ORPHA:231111
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Delayed puberty, Abnormality of the kidney, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated ci...	ORPHA:369
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Elevated plasma citrulline, Portal inflammation, Hepatocellular carcinoma, ...	OMIM:603471
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Salmonella osteomyelitis, Leukocytosis, Increased inflam...	OMIM:209950
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat...	ORPHA:99106
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Combined Oxidative Phosphorylation Deficiency 59	Congestive heart failure, Abnormal basal ganglia MRI signal intensity, Cholelithiasis, Hyperalani...	OMIM:620646
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Jaundice, Cirrhosis, Tubular luminal dilatation, Elevated circulating hepatic tr...	OMIM:619902
Purine Nucleoside Phosphorylase Deficiency	Sinusitis, Lymph node hypoplasia, Splenomegaly, Ataxia, Increased circulating guanosine concentra...	OMIM:613179
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced tissue carnitine O...	ORPHA:228305
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Anemia, Elevated circulating hepatic transaminase concentr...	ORPHA:98870
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Elevated circulating creatinine concentration, Anemia, Decreased glomerular f...	OMIM:174000
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Alg1-Cdg	Decreased liver function, Cerebral atrophy, Sepsis, Recurrent infections, Chronic diarrhea, Progr...	ORPHA:79327
Systemic Lupus Erythematosus	Pleuritis, Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocytopenia, Leukopenia, Hemolyti...	OMIM:152700
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Methylmalonic acidemia, Inability to walk, Loss of ability to walk in early childhood, Athetosis,...	OMIM:612073
Porphyria Cutanea Tarda	Elevated circulating hepatic transaminase concentration, Increased urinary porphobilinogen, Abnor...	ORPHA:101330
Immunodeficiency 103, Susceptibility To Fungal Infections	Chronic oral candidiasis, Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportio...	OMIM:212050
Tyrosinemia, Type I	Enlarged kidney, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, Ascit...	OMIM:276700
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Elevated circulating alkaline phosphatase concentration, Normochromic anemia, ...	ORPHA:247691
Focal Segmental Glomerulosclerosis 6	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein...	OMIM:614131
Nephrotic Syndrome, Type 23	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa...	OMIM:619201
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulati...	ORPHA:79240
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Hyperammonemia, Leukopenia, Thrombocytopen...	ORPHA:27
Dihydrolipoamide Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:246900
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,...	OMIM:601493
Bacterial Toxic-Shock Syndrome	Skin rash, Sinusitis, Elevated circulating creatinine concentration, Myocarditis, Hypocalcemia, I...	ORPHA:36234
Caroli Disease	Cholestasis, Ascites, Biliary cirrhosis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Cholan...	ORPHA:53035
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Nephrotic Syndrome, Type 15	Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd...	OMIM:617609
Neonatal Hemochromatosis	Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi...	ORPHA:446
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Normochromic anemia, Ski...	ORPHA:91500
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Steppage gait, Elevated circulating creatine kinase concentration, Focal segmental glomeruloscler...	OMIM:614455
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Renal insu...	ORPHA:139402
Immunodeficiency 51	Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can...	OMIM:613953
Malaria	Acute kidney injury, Anemia, Gait imbalance, Elevated circulating C-reactive protein concentratio...	ORPHA:673
Spinocerebellar Ataxia, Autosomal Recessive 21	Limb ataxia, Hepatomegaly, Gait ataxia, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis...	OMIM:616719
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Thrombocytopenia, Glomerulonephritis	OMIM:314000
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Hepatomegaly, Difficulty walking, Myoglobinuria, Waddling gait, Elev...	OMIM:251900
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric...	ORPHA:99103
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest...	ORPHA:567548
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Anemia, Renal tubular dysfunction, Hyperammonemia, Thrombocytopenia, ...	ORPHA:289916
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ...	OMIM:615616
Schimke Immuno-Osseous Dysplasia	Abnormality of thyroid physiology, Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells...	ORPHA:1830
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Pulmonary pneumatocele, Hepatomegaly, Elevated circulating C-reactiv...	OMIM:620565
Nephrotic Syndrome, Type 2	Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine...	OMIM:600995
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Anemia, Hemolytic-...	OMIM:612925
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circul...	ORPHA:54251
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circula...	ORPHA:449395
Klippel-Trénaunay Syndrome	Hepatomegaly, Hematuria, Ascites, Abnormality of the menstrual cycle, Patent ductus arteriosus, A...	ORPHA:90308
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Anemia, Elevated circulating hepatic transaminase concentration, Azoospermia...	ORPHA:300298
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Ureterocele, Abnormal blood ion concentration, Pyoderma, Abnor...	ORPHA:79404
Hyperglycinemia, Lactic Acidosis, And Seizures	Cerebral atrophy, Hypertrophic cardiomyopathy, Microcephaly, Joint contracture, Cerebral edema, F...	OMIM:614462
Focal Segmental Glomerulosclerosis 10	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron...	OMIM:256020
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Portal inflammation, Pulmonary artery atresia, Elevated circulating alanine ...	OMIM:613759
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
C3 Glomerulopathy	Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Nephrotic syndrome...	ORPHA:329918
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures	Cerebral atrophy, Gastroesophageal reflux, Recurrent infections, Corpus callosum atrophy, Microce...	OMIM:619876
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Lujo Hemorrhagic Fever	Myocarditis, Elevated circulating hepatic transaminase concentration, Elevated circulating C-reac...	ORPHA:319213
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Nephrotic syndrome, Podo...	OMIM:615861
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ...	OMIM:220150
Neutrophilia, Hereditary	Elevated leukocyte alkaline phosphatase, Neutrophilia, Splenomegaly	OMIM:162830
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Delayed puberty, Sideroblastic anemia, Hypochromic anemia, Failure to thrive, Microcytic anemia, ...	OMIM:600462
Whipple Disease	Myocarditis, Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Erectile dysfunction, Pleuritis, ...	ORPHA:3452
Babesiosis	Jaundice, Hepatomegaly, Recurrent pharyngitis, Leukopenia, Splenomegaly, Thrombocytopenia, Renal ...	ORPHA:108
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph...	OMIM:613812
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Jaundice, Giant cell hepatitis, Elevated circulating hepatic transamin...	OMIM:208085
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Skin ras...	OMIM:603552
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n...	OMIM:612926
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time, Jaundice, Elevated circulating hepatic transaminase concentration, Ca...	OMIM:616483
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Anemia, Renal hypoplasia/aplasia, Abnormal vagina morphology, Ascites, Thrombocytop...	ORPHA:2123
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Elevated circulating creatinine concentration, Elevated circulating ...	OMIM:614817
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Atelectasis, Microvesicular hepatic steatosis, Leukocytos...	OMIM:618278
Nephrotic Syndrome, Type 24	Steroid-resistant nephrotic syndrome, Renal cortical hyperechogenicity, Focal segmental glomerulo...	OMIM:619263
Rh Deficiency Syndrome	Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hyperbilirubinemia, Hypochromia, Spherocy...	ORPHA:71275
Galloway-Mowat Syndrome 8	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein...	OMIM:618349
Proteasome-Associated Autoinflammatory Syndrome 5	Skin rash, Hepatomegaly, Splenomegaly	OMIM:619175
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Akinesia, Hypochromic microcytic anemia, Anemia, Increased serum pyruvate, Hyperalaninemia, Hypot...	OMIM:619147
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Fatal liver failure in infancy	ORPHA:254857
Trimethylaminuria	Trimethylaminuria, Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
Cholestasis, Progressive Familial Intrahepatic, 5	Prolonged prothrombin time, Cirrhosis, Jaundice, Pleural effusion, Ascites, Elevated circulating ...	OMIM:617049
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Hypospadias, Failure to thrive, Cryptorchidism, Microcytic anemia	ORPHA:98791
Nephronophthisis	Anemia, Renal insufficiency	ORPHA:655
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Normochromic anemia, Decreased lec...	OMIM:245900
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Decreased methionine synthase activity, Normocytic anemia, Methylmalonic acidemia, Homocystinuria...	OMIM:236270
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Enlarged kidney, Episodic hemolytic anemia, Increased blood urea nitrogen, Obesi...	ORPHA:251004
Orotic Aciduria	Hematuria, Oroticaciduria, Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Transaldolase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Patent ductus arteriosus, Clitoral hyp...	OMIM:606003
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He...	OMIM:235200
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone ...	ORPHA:381
Gracile Syndrome	Increased serum pyruvate, Cholestasis, Increased circulating iron concentration, Increased circul...	OMIM:603358
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Decreased liver function, Elevated circulating hepatic transaminase concentration, Episodic vomit...	OMIM:615160
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Bardet-Biedl Syndrome 16	Recurrent otitis media, External genital hypoplasia, Recurrent respiratory infections, Bronchioli...	OMIM:615993
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Bronchiectasis, Sinusitis, Failure to thrive, Neutrophilia, ...	OMIM:226990
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Anemia of inadequate production, Reticulocytosis, Increased circulating lactat...	ORPHA:3202
Glycogen Storage Disease Ib	Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat...	OMIM:232220
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Anemia, Hemolytic-uremic syndrome, Anuria, Increased blood urea n...	OMIM:612924
Cog4-Cdg	Frontotemporal cerebral atrophy, Intermittent diarrhea, Cirrhosis, Neonatal sepsis, Elevated circ...	ORPHA:263501
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Abnormality of iron homeostasis, Hy...	OMIM:222470
Genetic Steroid-Resistant Nephrotic Syndrome	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Respiratory tract infectio...	ORPHA:656
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Nephronophthisis, Cholestasis, Obesity, Splenomegaly, Chronic kidney disease, Hepat...	OMIM:615630
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Anemia, Abnormal pulmonary interstitial morphology, Intraalveolar phosph...	OMIM:615486
Pgm3-Cdg	Chronic otitis media, Decreased proportion of CD3-positive T cells, T lymphocytopenia, Bone marro...	ORPHA:443811
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Incr...	ORPHA:3203
Thrombotic Thrombocytopenic Purpura, Hereditary	Jaundice, Hemolytic-uremic syndrome, Reticulocytosis, Microscopic hematuria, Prolonged neonatal j...	OMIM:274150
Preeclampsia	Acute kidney injury, Abnormality of the kidney, Pulmonary edema, Elevated circulating hepatic tra...	ORPHA:275555
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische...	ORPHA:99104
Coach Syndrome 3	Nephronophthisis, Portal fibrosis, Anemia, Renal interstitial inflammation, Renal tubular atrophy...	OMIM:619113
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Normochromic anemia, Nephropathy, Pleural effusion, Focal segmental glomeruloscle...	OMIM:254900
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Wolman Disease	Hepatomegaly, Anemia, Cachexia, Bone-marrow foam cells, Ascites, Adrenal insufficiency, Splenomeg...	ORPHA:75233
Nephrotic Syndrome, Type 26	Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s...	OMIM:620049
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Thyroid c...	ORPHA:3261
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic trans...	ORPHA:42
Q Fever	Elevated circulating hepatic transaminase concentration, Granuloma, Pericarditis, Splenomegaly, C...	ORPHA:781
Congenital Enterovirus Infection	Myocarditis, Sepsis, Hydrops fetalis, Polyhydramnios, Cardiomyopathy, Hypotension, Cholestasis, H...	ORPHA:292
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr...	ORPHA:731
Nephrotic Syndrome, Type 6	Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi...	OMIM:614196
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Elevated circulating C-reactive protein concentration...	OMIM:616414
Paroxysmal Nocturnal Hemoglobinuria	Abnormal erythrocyte enzyme concentration or activity, Impotence, Reticulocytosis, Unconjugated h...	ORPHA:447
Thymoma	Aplastic anemia, Neoplasm of the thyroid gland, Prostate neoplasm, Myositis, Neoplasm of the lung...	ORPHA:99867
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag...	OMIM:603965
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Cerebral atrophy, Death in childhood, Episodic vomiting, Diarrhea, Vomiting, Cerebral edema, Abno...	OMIM:618321
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Gait disturbance, Ataxia, Splenomegaly, Unsteady ga...	ORPHA:2585
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Increased circulat...	ORPHA:158057
Fadd-Related Immunodeficiency	Decreased liver function, Hepatic fibrosis, Ventricular septal defect, Cerebral atrophy	ORPHA:306550
Senior-Loken Syndrome	Premature ovarian insufficiency, Nephronophthisis, Congenital hepatic fibrosis, Ataxia, Chronic k...	ORPHA:3156
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Recurrent lower respiratory tract infections, Reduced left ventricular ejecti...	ORPHA:258
Wolman Disease	Abdominal distention, Hepatomegaly, Reduced lysosomal acid lipase activity, Death in infancy, Vom...	OMIM:620151
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
Avian Influenza	Pneumothorax, Acute kidney injury, Elevated circulating hepatic transaminase concentration, Myeli...	ORPHA:454836
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot...	OMIM:618176
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Hematuria, Reticulocytosis, Decreased serum creatinine, Thrombocytopenia, Pr...	ORPHA:54057
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Progressive cerebellar ataxia, Gait ataxia, Acute hepatic failure, Hepatosplenomegaly, Hepatic fi...	ORPHA:466794
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He...	OMIM:607616
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Lysosomal Acid Lipase Deficiency	Hypertriglyceridemia, Decreased liver function, Elevated circulating hepatic transaminase concent...	ORPHA:275761
Progeria-Short Stature-Pigmented Nevi Syndrome	Delayed puberty, Premature ovarian insufficiency, Neoplasm of the pancreas, Elevated circulating ...	ORPHA:2959
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Heinz bodies	OMIM:614164
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Anisocytosis, Hypochromic microcytic...	OMIM:206200
Gilbert Syndrome	Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentratio...	OMIM:143500
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Crohn's disease, Tricuspid regurgitation, Hypertrophic cardiomyop...	OMIM:619705
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Abdominal distention, Perimembranous ventricular septal defect, Hepatom...	OMIM:608104
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Hepatomegaly, Hematuria, Lymphadenopathy, Elevated ...	OMIM:614034
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Ele...	ORPHA:457077
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ...	ORPHA:156
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic...	OMIM:308990
Galloway-Mowat Syndrome 2, X-Linked	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Protei...	OMIM:301006
Osteootohepatoenteric Syndrome	Portal fibrosis, Anemia, Increased serum bile acid concentration, Hypokalemia, Microvesicular hep...	OMIM:619377
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Hemophagocytic Lymphohistiocytosis, Familial, 3	Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly	OMIM:608898
Immunodeficiency 69	Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Skin rash, ...	OMIM:618963
Dilated Cardiomyopathy With Ataxia	3-Methylglutaconic aciduria, Hypochromic microcytic anemia, Elevated circulating hepatic transami...	ORPHA:66634
Congenital Disorder Of Glycosylation, Type Iip	Decreased liver function, Elevated circulating alkaline phosphatase concentration, Elevated circu...	OMIM:616829
Nephrotic Syndrome, Type 1	Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Hypothyroid...	OMIM:256300
Senior-Loken Syndrome 9	Nephronophthisis, Cholestasis, Hepatic fibrosis, Obesity, Hypogonadism, Stage 5 chronic kidney di...	OMIM:616629
Peroxisome Biogenesis Disorder 6A (Zellweger)	Decreased liver function, Hepatomegaly, Neonatal death, Pachygyria, Feeding difficulties in infancy	OMIM:614870
Nephrotic Syndrome, Type 18	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta...	OMIM:618177
Nephrotic Syndrome, Type 19	Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta...	OMIM:618178
Nephrotic Syndrome, Type 20	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta...	OMIM:301028
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Right Ventricular Hypoplasia, Isolated	Hypoplasia of right ventricle	OMIM:277200
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c...	OMIM:208540
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic steato...	ORPHA:298
Dietary Iron Overload Disease	Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma...	ORPHA:139507
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Hematuria, Thrombocytopenia, Proteinuria, Microangiopathic hemolytic anemia,...	ORPHA:2134
Focal Segmental Glomerulosclerosis 8	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:616032
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin...	OMIM:251880
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Failure to thrive, Splenomegaly, Decreas...	OMIM:230350
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Anemia, Lymphadenopathy, Hemoph...	OMIM:613101
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	ORPHA:507
Rhabdoid Tumor	Renal neoplasm, Hematuria, Anemia, Lymphadenopathy, Thrombocytopenia, Hypercalcemia, Weight loss,...	ORPHA:69077
Mitochondrial Dna Depletion Syndrome 17	Cerebral atrophy, Hemiballismus, Death in childhood, Hyperammonemia, Low plasma citrulline, Hepat...	OMIM:618567
Cryoglobulinemic Vasculitis	Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Arthritis, Viral hepatitis,...	ORPHA:91138
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Lymphangiectasis, Hepatomegaly, Hyperinsulinemic hypoglycemia, Proximal tubulopathy, R...	OMIM:602579
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy, Weight loss	ORPHA:52416
Immunodeficiency 42	Chronic oral candidiasis, Hepatomegaly, Recurrent aphthous stomatitis, Hypoplasia of the thymus, ...	OMIM:616622
Isolated Agammaglobulinemia	Pneumonia, Anemia, Inflammatory abnormality of the eye, Abnormality of the tonsils, Abnormality o...	ORPHA:229717
Nephrotic Syndrome, Type 16	Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria	OMIM:617783
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Bronchiectasis, Failure t...	OMIM:617514
Nephrotic Syndrome, Type 13	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:616893
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Gastritis, Patent ductus arteriosus, Po...	ORPHA:84064
Galloway-Mowat Syndrome 6	Decreased response to growth hormone stimulation test, Decreased body weight, Focal segmental glo...	OMIM:618347
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated circulating hepatic transaminase concentration, Duplicated collecting system, Cholestasi...	ORPHA:541423
Cockayne Syndrome Type 1	Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Difficulty walking...	ORPHA:90321
Porphyria Cutanea Tarda, Type I	Porphyrinuria, Hepatic fibrosis, Eczematoid dermatitis	OMIM:176090
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Nephropathy, Focal segmental glomerulosclerosis, IgA deposition in the glomerulus	OMIM:182690
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn...	OMIM:201450
Congenital Syphilis	Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Synovitis, Nephrotic syndrome, Prolonged neon...	ORPHA:499009
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	OMIM:131400
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Hepatomegaly, Elevated circulating creatinine concentration...	OMIM:614376
Wiskott-Aldrich Syndrome	Chronic otitis media, Sinusitis, Abnormal platelet morphology, Lymphopenia, Neutropenia, Abnormal...	ORPHA:906
Gombo Syndrome	Microphthalmia	OMIM:233270
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating...	ORPHA:247585
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Protein avoidance, Vomiting, Hyperammonemia, Episodic ammonia intoxication, Cerebral edema, Low p...	OMIM:237300
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Abnormal renal tubule morphology, Anemia, Hypochromic microcytic anemi...	ORPHA:440713
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:301045
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentration, Anemi...	OMIM:242900
Immunodeficiency 56	Cirrhosis, Recurrent otitis media, Cholangitis, Recurrent respiratory infections, Recurrent infec...	OMIM:615207
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Bradykinesia, Jaundice, Hepatomegaly, Increased total iron binding capacity, Elevated circulating...	ORPHA:309854
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Decreased circulating copper co...	OMIM:300972
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Prolonged prothrombin time, Protein avoidance, Abdominal pain, Reduced hepatic ornithine transcar...	OMIM:311250
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma,...	ORPHA:39041
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr...	OMIM:607765
Ethylene Glycol Poisoning	Hyperkalemia, Pulmonary edema, Renal tubular epithelial necrosis, Hematuria, Gastritis, Decreased...	ORPHA:31826
Nephrotic Syndrome, Type 11	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ...	OMIM:616730
Chromosome 6Q24-Q25 Deletion Syndrome	Atrial septal defect, Persistent fetal circulation, Dysplastic pulmonary valve, Dysplastic tricus...	OMIM:612863
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Abnormal tubu...	OMIM:602114
Congenital Disorder Of Glycosylation, Type Iq	Failure to thrive, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Ec...	OMIM:612379
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Spastic gait, Hepatomegaly, Hyperornithinemia, Acute hepatitis, Truncal...	OMIM:238970
Lesch-Nyhan Syndrome	Hematuria, Anemia, Hyperuricemia, Gout, Renal insufficiency	ORPHA:510
Erythroleukemia, Familial, Susceptibility To	Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia	OMIM:133180
Combined Oxidative Phosphorylation Deficiency 42	Decreased liver function, Cardiomyopathy, Elevated circulating creatine kinase concentration, Dea...	OMIM:618839
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Chronic oral candidiasis, Lymphadenopathy, Thyroiditis, Recurrent urinary t...	ORPHA:83471
Mitochondrial Dna Depletion Syndrome 19	Hydrocele testis, Microcytic anemia, Hypospadias	OMIM:618972
Wolcott-Rallison Syndrome	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Ascites, Hyperammonemia, ...	ORPHA:1667
Osteopetrosis, Autosomal Recessive 2	Chronic rhinitis due to narrow nasal airway, Anemia, Pancytopenia, Thrombocytopenia, Hepatospleno...	OMIM:259710
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Elevated circulating creatine kinase concentration, Hypertrophic cardio...	OMIM:618835
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Hyperhomocystinemia, Meg...	OMIM:617780
Acute Disseminated Encephalomyelitis	Severe Epstein Barr virus infection, Herpes simplex encephalitis, Severe parainfluenza infection,...	ORPHA:83597
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly	OMIM:312500
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Congestive heart failure, Gastroesophageal reflux, Abnormal circulating...	ORPHA:70472
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Anemia, Recurrent otitis media, Elevated circulating hepatic transaminase concentra...	OMIM:619525
Neonatal Lupus Erythematosus	Heart block, Prolonged QT interval, Elevated circulating hepatic transaminase concentration, Hepa...	ORPHA:398124
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Eczematoid dermatitis, ...	OMIM:269840
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem...	OMIM:614377
Srd5A3-Cdg	Decreased response to growth hormone stimulation test, Elevated circulating hepatic transaminase ...	ORPHA:324737
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Malar rash, N...	OMIM:603909
Primary Sjögren Syndrome	Normochromic anemia, Optic neuritis, Bronchitis, Biliary cirrhosis, Leukopenia, Lymphopenia, Eryt...	ORPHA:289390
Microsporidiosis	Adrenocortical abnormality, Cachexia, Bronchitis, Sinusitis, Biliary tract abnormality, Myocardit...	ORPHA:2552
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Decreased liver function, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosp...	OMIM:617093
Bile Acid Synthesis Defect, Congenital, 4	Prolonged prothrombin time, Intrahepatic cholestasis, Elevated circulating hepatic transaminase c...	OMIM:214950
Moyamoya Disease 1	Inflammatory arteriopathy, Telangiectasia	OMIM:252350
Immunodeficiency With Hyper-Igm, Type 1	Chronic oral candidiasis, Cirrhosis, Hepatomegaly, Recurrent lower respiratory tract infections, ...	OMIM:308230
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cerebral atrophy, Sepsis, Elevated circulating hepatic transaminase concentration, Cholelithiasis...	OMIM:614886
Mevalonic Aciduria	Morbilliform rash, Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reac...	OMIM:610377
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Hemorrhagic Fever-Renal Syndrome	Elevated circulating hepatic transaminase concentration, Decreased glomerular filtration rate, De...	ORPHA:340
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Hypertension, Cholestasis, Ascites, Anasarca, Hepatic steatosis, Oligohydra...	OMIM:619573
Oculorenocerebellar Syndrome	Choreoathetosis, Nephropathy, Glomerular sclerosis	OMIM:257970
Acquired Purpura Fulminans	Prolonged prothrombin time, Sepsis, Shock, Elevated circulating C-reactive protein concentration,...	ORPHA:49566
Glycogen Storage Disease Xii	Delayed puberty, Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bi...	OMIM:611881
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Reticulocytosis, Increase...	OMIM:235400
Shwachman-Diamond Syndrome 1	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Recurrent inf...	OMIM:260400
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentratio...	OMIM:619386
Congenital Erythropoietic Porphyria	Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Increased urinary ...	ORPHA:79277
Congenital Disorder Of Glycosylation, Type Ia	Premature ovarian insufficiency, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:212065
Galactose Mutarotase Deficiency	Decreased liver function, Sepsis, Hepatomegaly, Abnormal circulating enzyme concentration or acti...	ORPHA:570422
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hype...	OMIM:259720
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros...	OMIM:310468
Immunodeficiency 23	Chronic mucocutaneous candidiasis, Allergic rhinitis, Eczematoid dermatitis, Bronchiectasis, Fail...	OMIM:615816
Lymphatic Filariasis	Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Kn...	ORPHA:2035
Focal Segmental Glomerulosclerosis 5	Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle...	OMIM:613237
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency	OMIM:607832
Lipoyltransferase 1 Deficiency	Decreased liver function, Elevated circulating hepatic transaminase concentration, Bradycardia, P...	OMIM:616299
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Abnormal basal ganglia morphology, Facial palsy, Myocardial necrosis, Vom...	ORPHA:68
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Ataxia, Steroid-resistant nephrotic syndrome, Proteinuria, St...	OMIM:617731
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, El...	OMIM:308240
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Hepatomegaly, Recurrent lower respiratory tract infections, Megaloblastic a...	OMIM:620603
Felty Syndrome	Chronic otitis media, Sinusitis, Bone marrow hypocellularity, Pericarditis, Splenomegaly, Neutrop...	ORPHA:47612
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Decreased 3-hydroxyacyl-CoA dehydrogenase level, Prolonged prothrombin time, Prolonged QT interva...	ORPHA:71212
Hypermanganesemia With Dystonia 1	Decreased liver function, Bradykinesia, Cirrhosis, Hepatomegaly, Increased total iron binding cap...	OMIM:613280
Laurence-Moon Syndrome	Hypoplasia of penis, Obesity, Displacement of the urethral meatus, Congenital hepatic fibrosis, T...	ORPHA:2377
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Chronic oral candidiasis, Abnormal lymph node morphology, Lymphadeno...	ORPHA:911
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Panniculitis, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Bronchiec...	ORPHA:60
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Failure to thrive secondary to recurrent infections, Decreased proporti...	ORPHA:169160
Patent Ductus Venosus	Decreased liver function, Persistent patent ductus venosus, Hypergalactosemia, Hyperammonemia, Co...	OMIM:601466
Hepatitis, Fulminant Viral, Susceptibility To	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati...	OMIM:618549
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail...	ORPHA:171
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:619423
Bardet-Biedl Syndrome 10	Obesity, Hypogonadism, Renal insufficiency, Renal cyst	OMIM:615987
Reversible Cerebral Vasoconstriction Syndrome	Ischemic stroke, Transient ischemic attack, Vomiting, Cerebral edema, Subarachnoid hemorrhage, Ce...	ORPHA:284388
Caroli Syndrome	Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal intrahepatic bile d...	ORPHA:480520
Aicardi-Goutieres Syndrome 7	Increased circulating ferritin concentration, Hepatomegaly, Anemia, Recurrent lower respiratory t...	OMIM:615846
Maternal Uniparental Disomy Of Chromosome X	Congestive heart failure, Predominantly lower limb lymphedema, Microcephaly, Camptodactyly of fin...	ORPHA:261519
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume	OMIM:206100
Hemochromatosis, Type 5	Abnormal circulating transferrin concentration, Anemia, Abnormal circulating copper concentration...	OMIM:615517
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpus...	ORPHA:2169
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Cerebral atrophy, Right ventricular dilatation, Limb-girdle muscular dystrophy, Myopathy	ORPHA:369847
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Splenomegaly, Weight loss, Aminoaciduria	ORPHA:79238
Aceruloplasminemia	Limb ataxia, Increased circulating ferritin concentration, Akinesia, Hypochromic microcytic anemi...	ORPHA:48818
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hep...	OMIM:613404
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Lathosterolosis	Bilobate gallbladder, Anisopoikilocytosis, Ambiguous genitalia, male, Intrahepatic cholestasis, E...	OMIM:607330
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Choreoathetosis, Microcytic anemia, Hypochromic anemia	OMIM:618451
Focal Segmental Glomerulosclerosis 9	Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis	OMIM:616220
Wilson Disease	Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, High nonceruloplasmin-bound serum ...	OMIM:277900
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Decreased methionine synthase activity, Methylmalonic acidemia, Normochromic anemia, Homocystinur...	OMIM:614857
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Skin rash, Anemia of inadequate production, Failure to thrive, Exocrine p...	OMIM:612714
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, ...	ORPHA:280356
Adams-Oliver Syndrome 6	Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Systemic Lupus Erythematosus 16	Lupus nephritis	OMIM:614420
Nephrotic Syndrome, Type 22	Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem...	OMIM:619155
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn...	ORPHA:159
3-Methylglutaconic Aciduria Type 4	Decreased liver function, Cardiomyopathy, Microcephaly	ORPHA:67048
Mccune-Albright Syndrome	Hepatocellular adenoma, Cholestasis, Bone marrow hypocellularity, Ovarian cyst, Hypophosphatemia,...	ORPHA:562
Activated Pi3K-Delta Syndrome	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, ...	ORPHA:397596
Aredyld Syndrome	Hepatomegaly, Cachexia, Abnormality of the ureter, Splenomegaly, Type II diabetes mellitus, Type ...	ORPHA:1133
Alg3-Cdg	Decreased liver function, Hypoplasia of the corpus callosum, Abnormal circulating enzyme concentr...	ORPHA:79321
Acatalasemia	Severe periodontitis, Reduced circulating catalase activity, Type II diabetes mellitus, Type I di...	ORPHA:926
Kcnq2-Related Epileptic Encephalopathy	Cerebral atrophy, Hypoplasia of the corpus callosum, Cerebral edema, Feeding difficulties, Abnorm...	ORPHA:439218
Thyrocerebrorenal Syndrome	Euthyroid goiter, Nonprogressive cerebellar ataxia, Nephritis, Thrombocytopenia, Renal insufficiency	ORPHA:3327
Graft Versus Host Disease	Gastrointestinal inflammation, Jaundice, Elevated circulating hepatic transaminase concentration,...	ORPHA:39812
C1Q Deficiency 1	Membranoproliferative glomerulonephritis	OMIM:613652
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Hepatomegaly, Hypercholesterolemia, Cholestasis, Biliary cirrho...	OMIM:620454
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis	OMIM:612551
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Nephrotic syndrome, Enterocolitis, Mesangial hypercellularity, Focal segmental glomerulosclerosis	OMIM:620425
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Erysi...	OMIM:214900
Blue Rubber Bleb Nevus	Skin rash, Microcytic anemia	ORPHA:1059
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Increased circulating lactate dehy...	ORPHA:514
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Increased circulating lactate dehydrogenase concentration, Granuloma, Splen...	OMIM:619802
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Glomerulonephritis, Chronic kidney disease	ORPHA:2172
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Delayed puberty, Decreased testicular size, Microcytic anemia, Primary amenorrhea, Cryptorchidism...	ORPHA:293967
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Mitochondrial Complex I Deficiency, Nuclear Type 1	Focal T2 hypointense basal ganglia lesion, Hepatomegaly, Concentric hypertrophic cardiomyopathy, ...	OMIM:252010
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent uri...	OMIM:618495
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes...	OMIM:610725
Glycogen Storage Disease Ic	Delayed puberty, Hepatomegaly, Chronic pancreatitis, Decreased glomerular filtration rate, Hematu...	OMIM:232240
Anemia, Sideroblastic, 1	Sideroblastic anemia, Anemia of inadequate production, Hypochromic microcytic anemia, Macrocytic ...	OMIM:300751
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Stillbirth, Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Pulmona...	OMIM:615415
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Galloway-Mowat Syndrome 7	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Eczematoid dermatitis, Nep...	OMIM:618348
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Proximal tubulopathy, Gait ataxia, Failure to thrive, Weight loss, Aminoaciduria	OMIM:612075
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Stillbirth, Hypoplasia of the corpus callosum, Hepatomegaly, Polyhydram...	OMIM:614922
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Nephrocalcinosis, Ataxia,...	OMIM:616084
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Premature ovarian insufficiency, Hypoparathyroidism, Macrocytic anemia, Hyperu...	ORPHA:199299
Tularemia	Cervical lymphadenopathy, Pneumonia, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Inflam...	ORPHA:3392
Maple Syrup Urine Disease, Type Ia	Vomiting, Elevated circulating branched chain amino acid concentration, Elevated circulating L-al...	OMIM:248600
Nephronophthisis 11	Polyuria, Nephronophthisis, Anemia, Tubular basement membrane disintegration, Hepatic fibrosis, R...	OMIM:613550
Isolated Biliary Atresia	Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholestasis, P...	ORPHA:30391
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly	ORPHA:100025
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Anemia, Hypercalcemia, Proteinuria, Renal insufficiency, Hyperparathyroidism	ORPHA:2668
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Gastrointestinal inflammation, Acute kidney injury, Renal tubular epithelial necrosis, Vaginal st...	ORPHA:95455
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Hematuria, Elevated circulating C...	ORPHA:160
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Abnormal pulmonary interstitial mor...	ORPHA:227990
Retinitis Pigmentosa 89	Intrahepatic bile duct dilatation, Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis	OMIM:618955
Cronkhite-Canada Syndrome	Cachexia, Hepatomegaly, Anemia, Splenomegaly	ORPHA:2930
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Macrocytic anemia, Increased serum pyruvate, Hyperalaninemia, Failure to thrive, Ataxia, Splenome...	OMIM:619046
Immunodeficiency By Defective Expression Of Mhc Class Ii	Autoimmune hemolytic anemia, Acute otitis media, Sclerosing cholangitis, Pancytopenia, Recurrent ...	ORPHA:572
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic cyst, Incre...	OMIM:610199
Glycogen Storage Disease Iii	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced muscle glycogen de...	OMIM:232400
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Cerebrooculofacioskeletal Syndrome 3	Edema, Microphthalmia	OMIM:616570
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Coach Syndrome 2	Elevated circulating creatinine concentration, Portal fibrosis, Elevated circulating hepatic tran...	OMIM:619111
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoplasia of the corpus callosum, Abdominal distention, Hyperkalemia, Jaundice, Hepatomegaly, Th...	OMIM:618528
Immunodeficiency, Common Variable, 1	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched mem...	OMIM:607594
Birk-Aharoni Syndrome	Inability to walk, Duplicated collecting system, Macrocytic anemia, Failure to thrive, Cryptorchi...	OMIM:620071
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent otitis media, Mediastinal lymphadenopathy, Lymphadenopathy, Recurrent respiratory infec...	OMIM:300853
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Jaundice, Congenital hydrocele, ...	OMIM:620376
Barth Syndrome	3-Methylglutaconic aciduria, Hypochromic microcytic anemia, Recurrent bronchitis, Gait disturbanc...	OMIM:302060
Immunodeficiency 75 With Lymphoproliferation	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Bronc...	OMIM:619126
Liver Failure, Infantile, Transient	Prolonged prothrombin time, Abdominal distention, Jaundice, Elevated circulating hepatic transami...	OMIM:613070
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, Anemia of inadequa...	OMIM:224100
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerular sclerosis, Nephrotic syndrome, Ataxia, Proteinuria, Glomerulonephritis	OMIM:619428
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Lymphadenopathy, R...	OMIM:619220
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Elevated circulating C-reactiv...	ORPHA:70591
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul...	OMIM:619868
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration, Microscopic hematuria, Nephritis, Proteinuria, Sta...	OMIM:161900
Hepatic Veno-Occlusive Disease	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased body w...	ORPHA:890
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Increased ci...	OMIM:618886
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema, Elevated pulmonary artery pressure	OMIM:178400
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Diarrhea, Nausea and vomiting, Hyperchol...	ORPHA:75234
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulonephritis	OMIM:613913
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Bile Acid Conjugation Defect 1	Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Conjugated h...	OMIM:619232
Reticular Dysgenesis	Chronic otitis media, Anemia, Skin rash, Failure to thrive, Leukopenia, Weight loss, Aplasia/Hypo...	ORPHA:33355
Acute Erythroid Leukemia	Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia	ORPHA:318
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Intrinsic Factor Deficiency	Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic...	OMIM:261000
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Biliary cirrhosis, Leukopenia, Type I diabetes mellitus, Aplasia/Hypoplasia of...	ORPHA:227982
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Dpm1-Cdg	Hepatomegaly, Elevated circulating hepatic transaminase concentration, External genital hypoplasi...	ORPHA:79322
Interatrial Communication	Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Positive ferric chloride test, Elevated urinary formiminoglutamic acid leve...	OMIM:229100
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Thin corpus callosum, Cerebral calcification, Corpus callosum atrophy, Microcephaly, Cerebral ede...	OMIM:620371
Farber Disease	Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Abnormal circul...	ORPHA:333
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq...	ORPHA:98826
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Pauci-Immune Glomerulonephritis	Acute kidney injury, Abnormality of the pulmonary vasculature, Pancreatitis, Decreased glomerular...	ORPHA:93126
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Anemia, Severe periodontitis, Recurrent otitis media, Recurrent urinary tract infec...	ORPHA:99843
Branchiootorenal Syndrome 2	Renal dysplasia, Renal insufficiency	OMIM:610896
Autosomal Agammaglobulinemia	Chronic otitis media, Arthritis, Skin rash, Sinusitis, Failure to thrive, Conjunctivitis, Bronchi...	ORPHA:33110
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndrome, Bone marrow hypo...	OMIM:301108
Polycystic Kidney Disease 7	Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic...	OMIM:620056
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Relapsing Fever	Acute kidney injury, Jaundice, Anemia, Hematuria, Elevated circulating C-reactive protein concent...	ORPHA:91547
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Hematuria, Anemia, Arthritis, Proteinuria, Renal insufficiency	ORPHA:375
Camos Syndrome	Nephrotic syndrome, Renal insufficiency, Ataxia	ORPHA:83472
Aspergillosis	Abnormality of the kidney, Hypersensitivity pneumonitis, Pleuritis, Pleural effusion, Bronchiecta...	ORPHA:1163
Myh9-Related Disease	Neutrophil inclusion bodies, Giant platelets, Elevated circulating hepatic transaminase concentra...	ORPHA:182050
Neuroendocrine Tumor Of Stomach	Hematemesis, Intermittent diarrhea, Elevated circulating hepatic transaminase concentration, Naus...	ORPHA:100075
Simple Cryoglobulinemia	Abnormality of the kidney, Chronic lymphatic leukemia, Arthritis, Viral hepatitis, Nephrotic synd...	ORPHA:91139
Frasier Syndrome	Ambiguous genitalia, male, Glomerulopathy, Gonadoblastoma, Focal segmental glomerulosclerosis, Ma...	ORPHA:347
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Anemia, Retrograde ejaculation, Elevated urinary dopamine level, Increased bloo...	ORPHA:230
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Decreased methionine synthase activity, Jaundice, Homocystinuria, Hyperhomocystinemia, Megaloblas...	OMIM:250940
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Emphysema, Inflammatory abnormality of ...	ORPHA:36412
Classic Galactosemia	Sepsis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Abnormal...	ORPHA:79239
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Crohn's disease, Acute pancreatitis, Ly...	OMIM:618935
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Skin rash, Thrombocytop...	ORPHA:83313
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:620632
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Myocarditis, Dysphagia, Hepatic failure	ORPHA:2724
Combined Oxidative Phosphorylation Deficiency 1	Hypoplasia of the corpus callosum, Hepatomegaly, Basal ganglia cysts, Cholestasis, Microcephaly, ...	OMIM:609060
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundice, Hemophagoc...	OMIM:267700
Mirage Syndrome	Hyperkalemia, Anemia, Hypospadias, Patent ductus arteriosus, Recurrent urinary tract infections, ...	OMIM:617053
Angiostrongyliasis	Projectile vomiting, Abdominal pain, Vomiting, Nausea, Poor appetite, Constipation, Cerebral edem...	ORPHA:74
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Recurrent lower respiratory tract infections, Pancytopenia, Recurrent sinus...	OMIM:620282
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Erythroderma, Hypoplas...	OMIM:603554
Glioblastoma	Abnormal corpus callosum morphology, Cerebral edema, Abnormal cerebral white matter morphology	ORPHA:360
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Malar rash, Arthritis, Skin rash, Discoid lupus rash, Myositis, Ascit...	ORPHA:93552
Immunodeficiency 82 With Systemic Inflammation	Crohn's disease, Skin rash, Bronchitis, T lymphocytopenia, Splenomegaly, Reduced natural killer c...	OMIM:619381
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement mem...	OMIM:104200
Congenital Atransferrinemia	Anemia	ORPHA:1195
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Hydronephrosis, Thro...	OMIM:598500
Pierre Robin Syndrome	Cor pulmonale, Feeding difficulties in infancy	OMIM:261800
Formiminoglutamic Aciduria	Abnormal circulating histidine concentration, Anemia, Abnormal circulating enzyme concentration o...	ORPHA:51208
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypertriglyceridemia, Decreased liver function, Jaundice, Hepatomegaly...	ORPHA:540
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Loss of ambulation, Hemolytic anemia	OMIM:615010
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Failure to thrive, Leukopenia, Thromb...	OMIM:613989
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Increased serum bile acid concentration, Sclerosing cholangiti...	OMIM:619662
Caspase 8 Deficiency	Lymphadenopathy, Eczematoid dermatitis, Failure to thrive, Splenomegaly, Recurrent sinopulmonary ...	OMIM:607271
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Glomerulopathy With Fibronectin Deposits 2	Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul...	OMIM:601894
Crome Syndrome	Renal tubular epithelial necrosis	OMIM:218900
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Developmental And Epileptic Encephalopathy 75	Decreased liver function, Hypoplasia of the corpus callosum, Secondary microcephaly, Frontal cort...	OMIM:618437
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans...	OMIM:256040
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Herpes Simplex Virus Encephalitis	Nausea and vomiting, Hyponatremia, Cerebral edema, Elevated circulating C-reactive protein concen...	ORPHA:1930
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent lower respiratory tract inf...	ORPHA:436159
Bardet-Biedl Syndrome 18	Stage 5 chronic kidney disease, Renal insufficiency, Obesity	OMIM:615995
Bone Marrow Failure Syndrome 2	Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Left-to-right shunt, Cerebral edema, Feeding difficulties, Left ventricular hypertrophy, Atrial s...	OMIM:620510
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Elevated circulating hepatic transaminase concentration,...	ORPHA:14
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sideroblastic anemia, Fail...	OMIM:613561
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Myasthenia Gravis	Myositis, Rheumatoid arthritis, Glycosuria, Pure red cell aplasia, Hashimoto thyroiditis, Primary...	ORPHA:589
Muckle-Wells Syndrome	Recurrent aphthous stomatitis, Elevated circulating C-reactive protein concentration, Leukocytosi...	OMIM:191900
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con...	OMIM:616050
Alport Syndrome	Clitoral hypertrophy, Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, ...	ORPHA:63
Immunodeficiency 89 And Autoimmunity	Pleural thickening, Hypochromic microcytic anemia, Recurrent lower respiratory tract infections, ...	OMIM:619632
Sandhoff Disease	Hepatomegaly, Failure to thrive, Ataxia, Splenomegaly, Recurrent respiratory infections	ORPHA:796
Systemic Lupus Erythematosus	Cheilitis, Hematuria, Lymphadenopathy, Pyuria, Malar rash, Arthritis, Discoid lupus rash, Thrombo...	ORPHA:536
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Hepatomegaly, Genital ulcers, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, ...	OMIM:602450
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Elliptocytosis, Anemia of inadequate production, Hemolytic anemia	OMIM:166910
Atransferrinemia	Abnormality of the liver, Hypochromic anemia, Atransferrinemia	OMIM:209300
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Periportal fibrosis, Decreas...	OMIM:201475
Familial Acute Necrotizing Encephalopathy	Vomiting, Choroid hemorrhage, Cerebral edema, Abnormal putamen morphology	ORPHA:88619
Citrullinemia, Classic	Cirrhosis, Hepatomegaly, Elevated plasma citrulline, Protein avoidance, Reduced tissue argininosu...	OMIM:215700
Nephrosialidosis	Renal insufficiency, Bone-marrow foam cells, Ascites, Nephrotic syndrome, Nephropathy	OMIM:256150
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Japanese Encephalitis	Anorexia, Pulmonary edema, Distal lower limb muscle weakness, Abnormal substantia nigra morpholog...	ORPHA:79139
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Cirrhosis, Nonarteriosclerotic cerebral calcification, Portal hypertension, Hepatic failure	OMIM:210050
Aceruloplasminemia	Increased circulating ferritin concentration, Anemia, Aceruloplasminemia, Ataxia, Decreased circu...	OMIM:604290
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Pancytopenia, Portal hypertension, Bone marrow hypocellularity, Ataxia, Abnormally low T cell rec...	OMIM:617341
Pearson Marrow-Pancreas Syndrome	Elevated circulating hepatic transaminase concentration, Complex organic aciduria, Type I diabete...	OMIM:557000
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Ascites, Focal segmental glomerulosclerosis, P...	ORPHA:567546
Glomerulopathy With Fibronectin Deposits 1	Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem...	OMIM:137950
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis, Hemolytic anemia	OMIM:612126
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Decreased methionine synthase activity, Hepatomegaly, Anemia, Methylmalonic acidemia, Pancytopeni...	OMIM:277380
Renal Hypoplasia, Bilateral	Hyperkalemia, Anemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microgl...	ORPHA:97362
Dermatitis Herpetiformis	Microcytic anemia, Abnormality of the thyroid gland, Eczematoid dermatitis	ORPHA:1656
Congenital Disorder Of Glycosylation, Type Iih	Elevated circulating creatine kinase concentration, Ataxia, Elevated serum transaminases during i...	OMIM:611182
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Failure to thrive, Splenomegal...	OMIM:269920
Ménétrier Disease	Hypochromic microcytic anemia, Giant hypertrophic gastritis, Hypoproteinemia, Weight loss, Hypoal...	ORPHA:2494
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Skin rash, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, R...	OMIM:105200
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated circulating hepatic transaminase concentration, Inappropriate antidiuretic hormone secre...	ORPHA:79124
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,...	OMIM:615382
Nanophthalmos	Microphthalmia	ORPHA:35612
Complement Component 4A Deficiency	Glomerulonephritis	OMIM:614380
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic steatosis, Hepatic failure	OMIM:261650
Nephronophthisis-Like Nephropathy 2	Polyuria, Elevated circulating creatinine concentration, Tubular luminal dilatation, Recurrent re...	OMIM:619468
Shigellosis	Cholestasis, Abnormal blood ion concentration, Myocarditis, Acute kidney injury, Hemolytic-uremic...	ORPHA:810
Glycogen Storage Disease Ia	Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat...	OMIM:232200
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr...	OMIM:300835
Diencephalic Syndrome	Cachexia, Abnormality of the hypothalamus-pituitary axis, Decreased body weight, Long penis	ORPHA:1672
Ataxia-Pancytopenia Syndrome	Anemia, Pancytopenia, Thrombocytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Hyp...	OMIM:159550
Congenital Bile Acid Synthesis Defect Type 3	Cirrhosis, Jaundice, Hyperbilirubinemia, Cholestasis, Elevated circulating alanine aminotransfera...	ORPHA:79302
Melioidosis	Prostatitis, Liver abscess, Acute infectious pneumonia, Foot osteomyelitis, Splenic abscess, Paro...	ORPHA:31202
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, Recurrent sinusitis, Splenomegaly, Erythema nodosum, Type I diabetes mellitu...	OMIM:614700
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Skin rash, Hypopro...	OMIM:603553
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity, Methylmaloni...	OMIM:277410
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal insuffici...	ORPHA:1454
Postinfectious Vasculitis	Gastrointestinal inflammation, Pneumonia, Hematuria, Elevated circulating C-reactive protein conc...	ORPHA:48435
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Delayed puberty, Abnormality of the endocrine system, Primary hypothyroidism, Lymphopenia, Type I...	ORPHA:391487
Foxp1 Syndrome	Abnormality of the kidney, Recurrent otitis media, Hypothyroidism, Failure to thrive, Diabetes me...	ORPHA:391372
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Congestive heart failure, Abdominal distention, Jaundice, Elevated circulating hepatic transamina...	OMIM:617156
Bronchial Neuroendocrine Tumor	Anorexia, Bowel urgency, Hepatomegaly, Hypotension, Tricuspid regurgitation, Facial telangiectasi...	ORPHA:97287
Lcat Deficiency	Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo...	ORPHA:650
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia, Gait ataxia, Ataxia, Dysmetria	OMIM:618093
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emphysema, Hepatoce...	OMIM:613490
Ziegler-Huang Syndrome	Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Bone marrow hypoce...	OMIM:620501
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Portal hypertension, Hypothyroidism...	OMIM:613385
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypertrophic cardiomyopathy, Hepatic necrosis, F...	OMIM:231530
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concen...	OMIM:235555
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans...	OMIM:203800
Bardet-Biedl Syndrome 14	Obesity, Renal insufficiency	OMIM:615991
Coenzyme Q10 Deficiency, Primary, 6	Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St...	OMIM:614650
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros...	OMIM:256370
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Recurrent aphthous stomat...	OMIM:611762
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Lymphocytosis, Splenomegaly, Hemoly...	OMIM:614470
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Elevated circulating hepatic transaminase concentration, Cardiomyopathy...	ORPHA:26791
Ileal Neuroendocrine Tumor	Intermittent diarrhea, Gastrointestinal obstruction, Elevated circulating hepatic transaminase co...	ORPHA:100078
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly, Distal renal tubular acidosis	OMIM:259730
Argininosuccinic Aciduria	Hepatomegaly, Protein avoidance, Increased circulating argininosuccinic acid, Vomiting, Hyperammo...	OMIM:207900
Severe Combined Immunodeficiency, X-Linked	Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini...	OMIM:300400
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Arima Syndrome	Polyuria, Cirrhosis, Hepatomegaly, Anemia, Nephronophthisis, Hematuria, Tubulointerstitial fibros...	OMIM:243910
Nanophthalmos 4	Microphthalmia	OMIM:615972
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Recurrent otitis media, Hypertension, Microcephaly, Secundum atrial septal defect, Feeding diffic...	OMIM:619758
Goodpasture Syndrome	Anemia, Reticular pattern on pulmonary HRCT, Glomerular crescent formation, Cylindruria, Increase...	OMIM:233450
Gaucher Disease Type 1	Delayed puberty, Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Panc...	ORPHA:77259
Agammaglobulinemia, X-Linked	Recurrent otitis media, Anemia, Pyoderma, Prostatitis, Recurrent lower respiratory tract infectio...	OMIM:300755
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis, Hypospadias, Glandular hypospadias, Megaloblastic anemia, Folate-unresponsive megalobl...	ORPHA:2575
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, Skin r...	OMIM:607115
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Gastrointestinal inflammation, Cirrhosis, Jaundice, Hep...	ORPHA:186
Spinocerebellar Ataxia With Epilepsy	Cerebral infarct, Acute hepatic failure, Myopathy, Hyperalaninemia	ORPHA:254881
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Chronic oral candidiasis, Pneumonia, Jaundice, Hepatomegaly, Decreased proportion of CD3-positive...	ORPHA:276
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Al Amyloidosis	Abnormality of the kidney, Renal interstitial amyloid deposits, Hepatomegaly, Anemia, Increased c...	ORPHA:85443
Congenital Disorder Of Glycosylation, Type Ir	Decreased liver function, Recurrent ear infections, Chronic constipation, Gastroesophageal reflux	OMIM:614507
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Gastrointestinal inflammation, Delayed puberty, Anemia, Iron deficiency anemia, Abnormality of th...	ORPHA:79408
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphop...	OMIM:619164
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4	Cerebral edema	OMIM:614212
Mpi-Cdg	Decreased liver function, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme ...	ORPHA:79319
Ceroid storage disease	Hepatic failure	OMIM:214200
Aggressive Systemic Mastocytosis	Decreased liver function, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Panc...	ORPHA:98850
Rh-Null, Amorph Type	Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia	OMIM:617970
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Acute Myelomonocytic Leukemia	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	ORPHA:517
Congenital Disorder Of Glycosylation, Type Iie	Decreased liver function, Congestive heart failure, Perimembranous ventricular septal defect, Jau...	OMIM:608779
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic oral candidiasis, Premature ovarian insufficiency, Hypoparathyroidism, Cholelithiasis, Ch...	OMIM:240300
Mulibrey Nanism	Cachexia, Hepatomegaly	ORPHA:2576
Hereditary Renal Hypouricemia	Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration...	ORPHA:94088
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Splenomegaly	ORPHA:37748
Muckle-Wells Syndrome	Delayed puberty, Hepatomegaly, Anemia, Recurrent aphthous stomatitis, Arthritis, Skin rash, Episc...	ORPHA:575
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Fa...	OMIM:604387
Nephrotic Syndrome, Type 12	Hematuria, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Diffuse mesa...	OMIM:616892
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Generalized Pustular Psoriasis	Cheilitis, Elevated circulating hepatic transaminase concentration, Elevated circulating C-reacti...	ORPHA:247353
Infantile Liver Failure Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Macrocytic anemia,...	OMIM:615438
Retinitis Pigmentosa 59	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Micrope...	OMIM:613861
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Pleural effusion, Nephr...	ORPHA:29073
Immunodeficiency 84	Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Transcobalamin Ii Deficiency	Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia,...	OMIM:275350
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Reticulocytosis, Ataxia, Erythroid hyperplasia, Renal insufficien...	OMIM:300653
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Death in childhood, Torticollis, Cerebral white matter atrophy, Cerebral edema, Leukoencephalopathy	OMIM:617186
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Cirrhosis, Cholangitis, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Thyro...	ORPHA:228426
Pfapa Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent pharyngitis, Arthritis, Splenomegaly, Weight loss, Infec...	ORPHA:42642
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy...	OMIM:102700
Congenital Toxoplasmosis	Jaundice, Anemia, Hepatomegaly, Lymphadenopathy, Elevated circulating hepatic transaminase concen...	ORPHA:858
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Neonatal Severe Primary Hyperparathyroidism	Abnormal circulating calcium-phosphate regulating hormone concentration, Hepatomegaly, Splenomega...	ORPHA:417
Lead Poisoning	Abnormal T cell morphology, Delayed puberty, Decreased HDL cholesterol concentration, Anemia, Dec...	ORPHA:330015
Scrub Typhus	Myocarditis, Lymphadenopathy, Skin rash, Splenomegaly, Anterior uveitis, Renal insufficiency, Let...	ORPHA:83317
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Decreased body weight, Increased blood urea ...	OMIM:620085
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hematuria, Extraadrenal pheochromocytoma, Glomerular sclerosis, Adrenal pheochromocytoma, Elevate...	ORPHA:276621
Melas	Anemia, Hypoparathyroidism, Proximal tubulopathy, Focal segmental glomerulosclerosis, Gait distur...	ORPHA:550
Dural Sinus Malformation	Cerebellar hemorrhage, Hypoplasia of the frontal lobes, Cerebral edema, Subarachnoid hemorrhage, ...	ORPHA:97339
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Hyp...	ORPHA:439232
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test, Hematuria, Ju...	ORPHA:1855
Mitochondrial Trifunctional Protein Deficiency	Congestive heart failure, Hypocalcemia, Poor suck, Cardiomyopathy, Cholestasis, Tricuspid regurgi...	ORPHA:746
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hyperglycinemia, Hepatomegaly, Pancreatitis, Methylmalonic acidemia, Hyperammonemia, Failure to t...	OMIM:251000
Protoporphyria, Erythropoietic, 1	Edema, Hypertriglyceridemia, Cholelithiasis, Hepatic failure	OMIM:177000
Idiopathic Achalasia	Bronchitis, Decreased circulating prealbumin concentration, Recurrent aspiration pneumonia, Weigh...	ORPHA:930
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Hepatomegaly, Anemia, Cholangitis, Ureteral duplication, Nephronophthisis, R...	OMIM:266920
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Hyperbilirubinemia, Reticulocytosis, Decreased hemoglobin concentration, Ataxia, R...	ORPHA:713
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Anemia, Thrombocytopenia, Macrothrombocytopenia	OMIM:187800
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Diabetes mellitus, Thrombocytopenia, Ataxia, Cryptorchidism, Thiamine-respo...	OMIM:249270
Frasier Syndrome	Gonadal dysgenesis, Focal segmental glomerulosclerosis, Male pseudohermaphroditism, Nephrotic syn...	OMIM:136680
Dent Disease	Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis...	ORPHA:1652
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Recurrent bronc...	OMIM:312863
Immunodeficiency 102	Hepatomegaly, Anemia, Recurrent lower respiratory tract infections, B lymphocytopenia, Neutropeni...	OMIM:301082
Burkitt Lymphoma	Abnormal lymph node morphology, Hyperuricemia, Abnormality of the ovary, Increased circulating la...	ORPHA:543
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Increased circulating ferritin concentration, Hypochromic microcytic anemia, At...	ORPHA:3240
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:300448
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Elevated circulating hepatic transaminase concentration, Patent ductus arteriosus, Access...	OMIM:620005
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Decreased liver function, Dehydration, Vomiting, Rhabdomyolysis, Neonatal death	OMIM:602199
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,...	OMIM:301083
Diamond-Blackfan Anemia 20	Anemia, Erythroid hypoplasia	OMIM:618313
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Wolfram Syndrome 1	Hydroureter, Diabetes insipidus, Megaloblastic anemia, Neurogenic bladder, Hypothyroidism, Sidero...	OMIM:222300
46,Xy Sex Reversal 4	Gonadal dysgenesis, Recurrent otitis media, Hypoplastic labia majora, Hypergonadotropic hypogonad...	OMIM:154230
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Hyperhomocystinemia, Stomatitis, Megaloblastic anemia, Elevated circul...	ORPHA:79284
Encephalopathy Due To Prosaposin Deficiency	Recurrent respiratory infections, Hepatomegaly, Splenomegaly	ORPHA:139406
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Failure to thrive, Splenomegaly	ORPHA:172
Protoporphyria, Erythropoietic, 2	Increased erythrocyte protoporphyrin concentration, Iron deficiency anemia	OMIM:618015
Gaucher Disease	Delayed puberty, Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Ataxia, Pancy...	ORPHA:355
Gracile Syndrome	Cirrhosis, Decreased transferrin saturation, Cholestasis, Elevated hepatic iron concentration, In...	ORPHA:53693
Lymphatic Malformation 11	Lymphedema, Pedal edema	OMIM:619401
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Usual int...	OMIM:620367
Free Sialic Acid Storage Disease	Hepatomegaly, Athetosis, Ascites, Gait disturbance, Nephrotic syndrome, Ataxia, Splenomegaly, Pro...	ORPHA:834
Gitelman Syndrome	Delayed puberty, Neoplasm of the pancreas, Urinary incontinence, Renal potassium wasting, Nocturi...	ORPHA:358
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy, Weight loss	ORPHA:86893
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Hematuria, Pancytopenia, Stomatitis, Leukocytosis, Leukopenia, Thrombocy...	ORPHA:520
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Anemia, Leukemia, Neutropenia	OMIM:614082
Hypocalcemic Vitamin D-Dependent Rickets	Elevated alkaline phosphatase of bone origin, Hepatomegaly, Hypocalcemic seizures, Elevated circu...	ORPHA:289157
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Chronic otitis media, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, M...	ORPHA:3226
Immunodeficiency, Common Variable, 2	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent bronchitis, Abnormal T cell coun...	OMIM:240500
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Brachycephaly, Plagiocephaly, Flat occiput	ORPHA:2898
Leukocyte Adhesion Deficiency	Perianal abscess, Severe periodontitis, Sinusitis, Bone marrow hypocellularity, Impaired neutroph...	ORPHA:2968
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:251290
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Spherocytosis, Type 5	Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal...	OMIM:612690
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Acute Liver Failure	Prolonged prothrombin time, Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic t...	ORPHA:90062
Shwachman-Diamond Syndrome	Aplastic anemia, Elevated circulating hepatic transaminase concentration, Macrocytic anemia, Skin...	ORPHA:811
Kerion Celsi	Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the...	ORPHA:499
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anemia, Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia	OMIM:175500
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Prolidase Deficiency	Hepatomegaly, Anemia, Eczematoid dermatitis, Hyperimidodipeptiduria, Prolonged neonatal jaundice,...	OMIM:170100
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Elevated circulating creatine kinase concentration, Ataxia, Methylmalonic aciduria, Ami...	ORPHA:1933
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Bare Lymphocyte Syndrome, Type Ii	Cholangitis, Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Co...	OMIM:209920
Uremic Pruritus	Hypermagnesemia, Elevated total serum tryptase, Increased blood urea nitrogen, Hypercalcemia, Inf...	ORPHA:94059
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Atopic dermatitis, T lymphocytopenia, Recurrent upper respiratory tract infections, Ab...	OMIM:618806
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Jaundice, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, In...	OMIM:613839
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Cerebral edema	OMIM:608033
Bardet-Biedl Syndrome 19	External genital hypoplasia, Renal insufficiency, Renal hypoplasia, Obesity, Hydronephrosis, Hypo...	OMIM:615996
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Alg9-Cdg	Cerebral atrophy, Atrial septal defect, Hepatomegaly, Hydrops fetalis, Torticollis, Gastroesophag...	ORPHA:79328
Immunodeficiency 7	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Lymp...	OMIM:615387
Diffuse Alveolar Hemorrhage	Hematuria, Anemia, Leukocytosis, Thrombocytopenia, Proteinuria, Weight loss, Pulmonary fibrosis, ...	ORPHA:90060
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Sinusitis, Failure to thrive, Recur...	ORPHA:277
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Elevated circulating carcinoembryonic antigen concentration, ...	ORPHA:100083
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Plummer-Vinson Syndrome	Cheilitis, Hypochromic microcytic anemia, Iron deficiency anemia, Decreased circulating ferritin ...	ORPHA:54028
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marrow hypocellula...	ORPHA:699
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Congenital nephrotic syndrome, Nephrotic syndrome, Diffuse me...	OMIM:617730
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia	OMIM:616176
Malignant Hyperthermia Of Anesthesia	Acute rhabdomyolysis, Hyperkalemia, Abnormality of masseter muscle, Cardiomyocyte mitochondrial p...	ORPHA:423
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia...	ORPHA:79301
Joubert Syndrome 9	Hepatic fibrosis, Stage 5 chronic kidney disease	OMIM:612285
Diamond-Blackfan Anemia 12	Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti...	OMIM:615550
Trichohepatoenteric Syndrome 2	Cirrhosis, Hepatomegaly, Chronic hepatitis, Failure to thrive, Decreased circulating iron concent...	OMIM:614602
Holocarboxylase Synthetase Deficiency	Perioral eczema, Organic aciduria, Keratoconjunctivitis, Eczematoid dermatitis, Hyperammonemia, T...	ORPHA:79242
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Abdominal distention, Hepatomegaly, Polyhydramnios, Hypocalcemia, Lymphedema, Hypoproteinemia, As...	OMIM:235255
Complement Factor I Deficiency	Recurrent otitis media, Recurrent urinary tract infections, Recurrent streptococcus pneumoniae in...	OMIM:610984
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Decreased serum insulin-like growth factor 1, Intrahepatic cholestasis, Hepatome...	OMIM:614921
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Lymphadenopathy, Herpes simplex encephalitis, Increased B cell count, Hep...	OMIM:618982
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Citrullinemia Type I	Elevated plasma citrulline, Torticollis, Gastroesophageal reflux, Vomiting, Hyperammonemia, Feedi...	ORPHA:247525
Addison Disease	Delayed puberty, Decreased circulating cortisol level, Type I diabetes mellitus, Decreased female...	ORPHA:85138
Common Variable Immunodeficiency	Chronic otitis media, Pneumonia, Elevated circulating hepatic transaminase concentration, Lymphad...	ORPHA:1572
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Recurrent respiratory infections, Renal insufficiency, Renal cyst, Bile duct proliferat...	OMIM:208500
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Megaloblastic anemia, Proteinuria	OMIM:261100
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Decreased testicular size, Failure to thrive, Decreased serum zinc, Ataxia, Splenom...	OMIM:201100
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy...	ORPHA:1414
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Lymphadenopathy, Recurrent aphthous stomatitis, B lymphocytopenia, Recu...	OMIM:150550
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral rena...	OMIM:614576
Acute Adrenal Insufficiency	Renal salt wasting, Hyperkalemia, Normocytic anemia, Delayed puberty, Hyperuricemia, Decreased fe...	ORPHA:95409
Budd-Chiari Syndrome	Intestinal obstruction, Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Hepatomegaly, Elevated ...	ORPHA:131
Camurati-Engelmann Disease	Delayed puberty, Hepatomegaly, Anemia, Elevated circulating aldolase concentration, Cachexia, Wad...	ORPHA:1328
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Leigh Syndrome	Dysphagia, Myopathy, Diffuse spongiform leukoencephalopathy, Severe viral infection, Skeletal mus...	ORPHA:506
Cholestasis, Progressive Familial Intrahepatic, 4	Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Portal hypertension, Hepatic failure	OMIM:615878
Granulomatous Slack Skin	Hypercalcemia, Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypomethioninemia, Neutropenia, Acute kidney injury, Hemolytic-uremic syndrome, Cystathioninuria,...	OMIM:277400
Systemic Capillary Leak Syndrome	Myocarditis, Abnormal renal tubule morphology, Pulmonary edema, Pancreatitis, Pleural effusion, L...	ORPHA:188
Idiopathic Bronchiectasis	Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Cachexia, Re...	ORPHA:60033
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Panniculitis, Elevated circulating h...	OMIM:617591
Senior-Loken Syndrome 8	Nephronophthisis, Intrahepatic bile duct dilatation, Glomerular subepithelial immune-complex depo...	OMIM:616307
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Athetosis, Failure to thrive, Thrombocytopenia, Leukopeni...	OMIM:229050
Protoporphyria, Erythropoietic, X-Linked	Increased erythrocyte protoporphyrin concentration, Elevated circulating hepatic transaminase con...	OMIM:300752
Hereditary Pheochromocytoma-Paraganglioma	Hematuria, Extraadrenal pheochromocytoma, Glomerular sclerosis, Adrenal pheochromocytoma, Elevate...	ORPHA:29072
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Extrapulmonary lobar sequestration, Ascite...	OMIM:200995
Sepsis In Premature Infants	Decreased liver function, Jaundice, Anemia, Hepatomegaly, Elevated circulating C-reactive protein...	ORPHA:90051
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Pulmonary Blastoma	Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss	ORPHA:64741
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Iron deficiency anemia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Asple...	OMIM:269200
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:620481
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis	OMIM:266140
Familial Benign Copper Deficiency	Anemia, Decreased circulating copper concentration, Acne	ORPHA:1551
C1Q Deficiency 2	Recurrent otitis media, Anemia, Atelectasis, Elevated circulating C-reactive protein concentratio...	OMIM:620321
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Pulmonary lymphangiectasia, Chronic kidney disease, Membran...	OMIM:137940
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Mucopolysaccharidosis Type 7	Ascites, Mucopolysacchariduria, Splenomegaly, Abnormal pleura morphology, Recurrent respiratory i...	ORPHA:584
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, Secondary microcephaly, Prolonged prothrombin time, Elevated circulatin...	OMIM:618329
Celiac Disease, Susceptibility To, 1	Delayed puberty, Elevated circulating hepatic transaminase concentration, Recurrent aphthous stom...	OMIM:212750
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidism, Bone marr...	OMIM:618849
Sarcoidosis	Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Erythema nodosum,...	ORPHA:797
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Brachycephaly, Craniosynostosis, Thickened calvaria	ORPHA:178377
Migraine, Familial Hemiplegic, 2	Nausea, Cerebral edema	OMIM:602481
Aids Wasting Syndrome	Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration	ORPHA:90081
Galactosemia I	Decreased liver function, Increased level of galactitol in red blood cells, Cirrhosis, Hepatomega...	OMIM:230400
Zygomycosis	Acute infectious pneumonia, Sinusitis, Pericarditis, Pustule, Neutropenia, Myocarditis, Splenic a...	ORPHA:73263
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cholestasis, Ascites, Prolonged neonatal jaundice, Acute hepatic failure, Micronodular cirrhosis,...	OMIM:256810
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr...	OMIM:602347
Combined Oxidative Phosphorylation Deficiency 46	Decreased liver function	OMIM:618952
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormal mesentery morphology, Abnormality of the spleen	ORPHA:93941
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Somatostatinoma	Neoplasm of the pancreas, Ascites, Pituitary adenoma, Parathyroid adenoma, Medullary thyroid carc...	ORPHA:97283
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Acute kidney injury, Myoglobinuria, Reduced circulating aldolase concentration, Ele...	ORPHA:57
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cerebral atrophy, Hepatomegaly, Reduced phosphoenolpyruvate carboxykinase activity in cultured fi...	OMIM:261680
Cystinosis, Nephropathic	Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, Splenomegaly, Hypophosphatemi...	OMIM:219800
Peroxisome Biogenesis Disorder 7B	Decreased liver function	OMIM:614873
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Cog2-Cdg	Decreased liver function, Secondary microcephaly, Hypoplasia of the corpus callosum, Decreased ci...	ORPHA:435934
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Inf...	ORPHA:1451
Neuroblastoma	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Anemia, Lymphadenop...	ORPHA:635
Xfe Progeroid Syndrome	Premature ovarian insufficiency, Elevated circulating hepatic transaminase concentration, Cachexi...	OMIM:610965
Renpenning Syndrome	Decreased testicular size, Cachexia, Diabetes mellitus, Hypospadias	ORPHA:3242
Cystinosis	Delayed puberty, Hypokalemia, Nephropathy, Portal hypertension, Nephrogenic diabetes insipidus, H...	ORPHA:213
Alveolar Echinococcosis	Decreased liver function, Abnormal adrenal morphology, Jaundice, Anemia, Cholangitis, Liver absce...	ORPHA:284
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:300946
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Recurrent upper respiratory tract infections, Bronchiectasis, Absenc...	OMIM:608184
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Cachexia, Slender build, Ataxia, Weight loss	OMIM:613662
Kawasaki Disease	Myocarditis, Cervical lymphadenopathy, Jaundice, Cheilitis, Recurrent pharyngitis, Elevated circu...	ORPHA:2331
Phosphoglycerate Dehydrogenase Deficiency	Decreased testicular size, Reduced 3-phosphoglycerate dehydrogenase activity, Megaloblastic anemi...	OMIM:601815
Follicular Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Pleural effusion, S...	ORPHA:545
Pyridoxal Phosphate-Responsive Seizures	Abnormal circulating histidine concentration, Abnormal circulating threonine concentration, Abnor...	ORPHA:79096
Moynahan Syndrome	Cachexia, Hypogonadism	ORPHA:2574
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly, Weight loss	ORPHA:66661
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Refractory anemia, Monocytosis, Leukopenia, Acute myeloid leukemia	OMIM:616871
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin...	OMIM:619924
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Recurren...	OMIM:243150
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cholangit...	ORPHA:3260
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Lesch-Nyhan Syndrome	Podagra, Hyperuricemia, Megaloblastic anemia, Nephrolithiasis, Nephrocalcinosis, Choreoathetosis,...	OMIM:300322
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Leukopenia, Splenomegaly, Lymphopenia, Recurren...	OMIM:620210
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Postnatal growth retardation, Brachycephaly	OMIM:309545
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent uri...	OMIM:612783
Leptospirosis	Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Optic neuritis, Skin rash, Pleural ...	ORPHA:509
3-Methylglutaconic Aciduria Type 7	Pneumothorax, 3-Methylglutaconic aciduria, Infection associated neutropenia, Elevated circulating...	ORPHA:445038
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Fumarase Deficiency	Decreased fumarate hydratase activity, Cerebral atrophy, Perimembranous ventricular septal defect...	OMIM:606812
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Re...	ORPHA:183675
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Unilateral renal agenesis, Testicular seminoma, Hypogonadism, Cryptorchidism, Ren...	ORPHA:281090
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Limb ataxia, Abnormal pulmonary interstitial morphology, Anemia, Cholelithiasis,...	ORPHA:2072
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Pleural effusion, Ataxia, Splenomegaly, Abnorma...	ORPHA:33226
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Brachycephaly, Short stature	ORPHA:2528
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent otitis media, Recurrent lower respiratory tract infections, Recurrent respiratory infec...	OMIM:618986
Maleylacetoacetate Isomerase Deficiency	Decreased liver function	OMIM:617596
Zellweger Syndrome	Jaundice, Hepatomegaly, Polymicrogyria, Death in infancy, Microcephaly, Malabsorption, Ventricula...	ORPHA:912
Giant Cell Arteritis	Anorexia, Gastrointestinal infarctions, Recurrent pharyngitis, Vasculitis, Abdominal pain, Cerebr...	ORPHA:397
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Pleuritis, Crohn's disease, ...	OMIM:249100
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Skin rash, Bone marrow hypocellularity, Ataxia, Splenomegaly, Weig...	ORPHA:391
Fibronectin Glomerulopathy	Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur...	ORPHA:84090
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Jaundice, Hepatomegaly, Elevated circulating creatinine concentration, Hypokalemia, Elevated circ...	OMIM:613095
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulat...	OMIM:223900
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Oroticaciduria, Pulmonary hemorrhage, Intra...	OMIM:222700
Nail-Patella-Like Renal Disease	Microscopic hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2613
Pontocerebellar Hypoplasia, Type 13	Decreased liver function, Hypoplasia of the corpus callosum, Pleural effusion, Microcephaly, Cons...	OMIM:618606
Prune Belly Syndrome	Decreased fertility, Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urin...	ORPHA:2970
Monosomy 22	Hypochromic microcytic anemia, Seborrheic dermatitis, Hepatosplenomegaly, Aplasia of the thymus, ...	ORPHA:96123
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, Recurrent lower respir...	OMIM:226300
Senior-Loken Syndrome 4	Polyuria, Stage 5 chronic kidney disease, Nephronophthisis, Anemia	OMIM:606996
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
Von Willebrand Disease	Menorrhagia, Thrombocytopenia, Microcytic anemia	ORPHA:903
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Dent Disease 2	Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea...	OMIM:300555
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit...	OMIM:127550
Transcobalamin Deficiency	Acute kidney injury, Pancytopenia, Thrombocytopenia, Lymphopenia, Methylmalonic aciduria, Neutrop...	ORPHA:859
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Spherocytosis, Type 3	Spherocytosis, Hemolytic anemia	OMIM:270970
Porphyria Variegata	Elevated urinary delta-aminolevulinic acid, Anemia, Increased urinary porphobilinogen, Elevated c...	ORPHA:79473
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Hepatomegaly, Anemia, Elevated circulating parathyroid hormone level, Hyper...	OMIM:239200
Adenohypophysitis	Normochromic anemia, Reduced circulating prolactin concentration, Hyposthenuria, Decreased male l...	ORPHA:95512
Gómez-López-Hernández Syndrome	Short stature, Turricephaly, Brachycephaly	ORPHA:1532
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Copper Deficiency, Familial Benign	Seborrheic dermatitis, Failure to thrive, Anemia, Decreased circulating copper concentration	OMIM:121270
Senior-Loken Syndrome 1	Polyuria, Nephronophthisis, Anemia, Elevated circulating creatinine concentration, Tubulointersti...	OMIM:266900
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Abnormality of the urinary system, Periportal fibrosis	OMIM:213010
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Skin rash, Thrombocytopenia, Splenomegaly, Patent ductus arterios...	ORPHA:290
Galloway-Mowat Syndrome 3	Glomerular sclerosis, Nephrotic syndrome, Failure to thrive, Diffuse mesangial sclerosis, Protein...	OMIM:617729
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Delayed puberty, Anemia, Decreased circulating carnitine concentration, Decreased body weight, Fa...	ORPHA:89842
Cryptococcosis	Sepsis, Cirrhosis, Pleural effusion, Limb muscle weakness, Vomiting, Cerebral cortical atrophy, C...	ORPHA:1546
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f...	ORPHA:730
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Anemia, Pelvic kidney, Vesicoureteral refl...	OMIM:603467
Myopathy With Lactic Acidosis, Hereditary	Difficulty walking, Anemia, Myoglobinuria, Elevated circulating creatine kinase concentration, Si...	OMIM:255125
Acute Generalized Exanthematous Pustulosis	Cheilitis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis,...	ORPHA:293173
Immunodeficiency 96	Recurrent otitis media, Recurrent lower respiratory tract infections, Increased mean corpuscular ...	OMIM:619774
Riboflavin Transporter Deficiency	Cachexia, Ataxia, Hypogonadism, Diabetes insipidus	ORPHA:97229
Panhypophysitis	Normochromic anemia, Impotence, Abnormal posterior pituitary morphogenesis, Decreased circulating...	ORPHA:95513
Sporadic Fetal Brain Disruption Sequence	Plagiocephaly, Prominent occiput	ORPHA:1665
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
Combined Oxidative Phosphorylation Deficiency 18	Methylmalonic aciduria, Hypersegmentation of neutrophil nuclei, Dysmetria, Macrocytic anemia	OMIM:615578
Gaisböck Syndrome	Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ...	ORPHA:90041
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Hypochromic microcytic anemia, Hypospadias, Reduced alpha/beta synthesis ratio, R...	OMIM:301040
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Spastic gait, Hepatomegaly, Oroticaciduria, Abnormal circulating citrul...	ORPHA:415
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hypotriglyceridemia, Skin rash, Increased body weight, ...	ORPHA:2298
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Polyhydramnios, Ascites, Microcephaly, Neonatal death, Hepatosplenomegaly, Dysphagi...	OMIM:608013
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Hepatic failure	ORPHA:664
Genetic Recurrent Myoglobinuria	Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Elevated circulating hepatic t...	ORPHA:99845
Renal Dysplasia, Cystic, Susceptibility To	Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal...	OMIM:601331
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias, Aspiration pneumonia, Hyperammonemia, Loss of ambulation, Bronchiectasis, Small for ...	OMIM:618253
Donohue Syndrome	Clitoral hypertrophy, Severe failure to thrive, Hyperinsulinemia, Long penis, Cholestasis, Precoc...	OMIM:246200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive secondary to recurrent infections, B lymphocytopenia, Arthritis, T lymphocytope...	OMIM:601457
Lymphoproliferative Syndrome 2	Aplastic anemia, EBV encephalitis, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia,...	OMIM:615122
Adenylosuccinate Lyase Deficiency	Brachycephaly, Flat occiput	ORPHA:46
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen...	OMIM:612526
Cockayne Syndrome	Delayed puberty, Urinary incontinence, Elevated circulating hepatic transaminase concentration, C...	ORPHA:191
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al...	OMIM:619824
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Denys-Drash Syndrome	Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi...	OMIM:194080
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating hepatic transaminase concentration, Skin rash, Bone marrow hypocellularity, ...	OMIM:615688
Systemic Sclerosis	Myocarditis, Acute kidney injury, Abnormality of the kidney, Abnormal pulmonary interstitial morp...	ORPHA:90291
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent lower respiratory tract inf...	OMIM:616100
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Alagille Syndrome 1	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Cholestasis, Prolo...	OMIM:118450
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Classic Mycosis Fungoides	Hepatomegaly, Lymphadenopathy, Skin rash, Abnormal lymphocyte morphology, Eczematoid dermatitis, ...	ORPHA:2584
Craniosynostosis 6	Brachycephaly, Plagiocephaly, Turricephaly, Spina bifida occulta, Bicoronal synostosis, Parietal ...	OMIM:616602
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia...	OMIM:602522
Kikuchi-Fujimoto Disease	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Skin rash, Increased circ...	ORPHA:50918
Joubert Syndrome 6	Nephronophthisis, Bile duct proliferation, Ataxia, Hepatic fibrosis, Stage 5 chronic kidney disease	OMIM:610688
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia, Nephropathy, Proteinuria, Gait disturbance	ORPHA:2774
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Portal vein thrombosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein co...	ORPHA:33402
Rift Valley Fever	Jaundice, Hematuria, Anemia, Elevated circulating hepatic transaminase concentration, Skin rash, ...	ORPHA:319251
Diamond-Blackfan Anemia 7	Recurrent otitis media, Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral refl...	OMIM:612562
Fusariosis	Sinusitis, Granuloma, Lymphopenia, Neutropenia, Abnormality of the kidney, Hypersensitivity pneum...	ORPHA:228119
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Alström Syndrome	Hypertriglyceridemia, Urinary incontinence, Elevated circulating hepatic transaminase concentrati...	ORPHA:64
Ebola Hemorrhagic Fever	Acute pancreatitis, Thrombocytopenia, Leukopenia, Lymphopenia, Hepatitis, Lethargy, Maculopapular...	ORPHA:319218
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Skin rash, Elevated tota...	ORPHA:98848
Tarp Syndrome	Broad-based gait, Cryptorchidism, Failure to thrive, Hydronephrosis, Pulmonary hypoplasia, Extram...	ORPHA:2886
Biliary, Renal, Neurologic, And Skeletal Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Ascites, Biliary cirrhosis, Prolonged neonatal ja...	OMIM:619534
Erdheim-Chester Disease	Abnormal pulmonary interstitial morphology, Anemia, Renal insufficiency, Diabetes insipidus, Skin...	ORPHA:35687
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pulmonary pneumatocele, Elevated circulating C-reactive protein concentration, Acut...	ORPHA:36238
Non-Functioning Pituitary Adenoma	Erectile dysfunction, Anemia of inadequate production, Impotence, Female hypogonadism, Hypogonadi...	ORPHA:91349
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kidney dysplasia, Malformati...	OMIM:607361
Combined Oxidative Phosphorylation Deficiency 24	Elevated circulating creatine kinase concentration, Focal segmental glomerulosclerosis	OMIM:616239
Tarp Syndrome	Neonatal death, Tetralogy of Fallot, Atrial septal defect, Oligohydramnios, Subdural hemorrhage, ...	OMIM:311900
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent respiratory infecti...	ORPHA:100026
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Glomerulopathy, Hematuria, Myositis, Arthritis, Skin rash, Gait disturbance, Increas...	ORPHA:183
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Delayed puberty, Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Decreased response to ...	OMIM:307200
Stevens-Johnson Syndrome	Pancreatitis, Anemia, Elevated circulating hepatic transaminase concentration, Dysuria, Dyspareun...	ORPHA:36426
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H...	ORPHA:209902
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Gait disturbance	ORPHA:157973
Mixed Connective Tissue Disease	Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopath...	ORPHA:809
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly	ORPHA:35099
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Failure to thrive, Aspiration pneumonia	OMIM:609528
Xk Aprosencephaly Syndrome	Microphthalmia, Polyhydramnios	ORPHA:3469
Bardet-Biedl Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Childhood-onset truncal obesity, E...	ORPHA:110
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Brachycephaly, Occipital encephalocele, Craniosynostosis	OMIM:614416
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, H...	OMIM:608836
Sialidosis Type 2	Hepatomegaly, Ascites, Ataxia, Splenomegaly, Nephropathy	ORPHA:87876
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Anemia of inadequate production, Unilateral renal agenesis, Neutropenia	OMIM:614900
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Hypoproteinemia...	OMIM:619991
Diamond-Blackfan Anemia 4	Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia	OMIM:612527
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Neutrophilic infiltration...	OMIM:618048
Microphthalmia, Isolated 5	Cystoid macular edema, Microphthalmia	OMIM:611040
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Failure to thrive, Splenomegal...	OMIM:609981
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Abnormal pulmonary interstitial morphology, Anemia, Macrocytic anemia, Pancytope...	OMIM:613990
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Periportal fibrosis, Polycystic kidney dysplasia, Bicornuate uterus, Pulm...	OMIM:263210
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Failure to thrive, Hepatosp...	OMIM:612541
Congenital Disorder Of Glycosylation, Type Iic	Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Neutrophi...	OMIM:266265
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Type II diabete...	OMIM:620121
Thymic Neuroendocrine Tumor	Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neo...	ORPHA:97289
Eosinophilic Gastroenteritis	Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Ascites, Atopic derm...	ORPHA:2070
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Chronic oral candidiasis, Lymphadenopathy, Recurrent respiratory inf...	OMIM:606367
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Hepatitis	ORPHA:199296
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Delayed puberty, Enlarged kidney, Hepatocellular adenoma, Tubulointerstitia...	ORPHA:79259
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormality of the menstrual cycle	ORPHA:721
Nephronophthisis 20	Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff...	OMIM:617271
Rhabdomyolysis, Susceptibility To, 1	Abnormal circulating acylcarnitine concentration, Renal insufficiency, Elevated circulating creat...	OMIM:620235
Hypercalcemia, Infantile, 1	Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Failure to thrive, Nephroc...	OMIM:143880
Familial Or Sporadic Hemiplegic Migraine	Cerebral edema, Facial paralysis	ORPHA:569
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Decreased body weight, Decreased beta-glucocerebrosidase level, Throm...	OMIM:231000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Decreased glomerular filtration rate, Hyperuricemia, Nephropathy, Nephritis, Renal tubular atroph...	OMIM:162000
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Stage 3 chronic kidney disease, Anemia, Elevated circulating creatinine concentrati...	OMIM:620366
Combined Immunodeficiency Due To Crac Channel Dysfunction	Chronic otitis media, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Pneumonia, H...	ORPHA:169090
Orthostatic Hypotension 1	Retrograde ejaculation, Reduced circulating dopamine beta-hydroxylase activity, Reduced circulati...	OMIM:223360
Marburg Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Skin rash, Reticulocytosis, Hyperammonem...	ORPHA:99826
Mcdonough Syndrome	Cachexia, Cryptorchidism	ORPHA:2471
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria	OMIM:614199
Christianson Syndrome	Truncal ataxia, Cachexia, Gait ataxia	ORPHA:85278
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El...	ORPHA:562639
Granulomatosis With Polyangiitis	Chronic otitis media, Inflammatory abnormality of the eye, Skin rash, Ureteral stenosis, Sinusiti...	ORPHA:900
Microlissencephaly	Pneumonia	ORPHA:1083
Jeune Syndrome	Nephronophthisis, Nephropathy, Abnormality of the liver, Renal insufficiency, Aplasia/Hypoplasia ...	ORPHA:474
Birk-Landau-Perez Syndrome	Hyperkalemia, Limb ataxia, Stage 3 chronic kidney disease, Difficulty walking, Renal hypoplasia, ...	OMIM:617595
Bardet-Biedl Syndrome 1	Abnormality of the kidney, Gait imbalance, Truncal obesity, Abnormality of the ovary, Nephrogenic...	OMIM:209900
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatomegaly, Hypochromic microcyt...	ORPHA:97214
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Hypospadias, Reticulocytopenia, Leukopenia	OMIM:612528
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly	OMIM:615085
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormality of the urinary system, Splenomegaly, Aplasia/Hypoplasia of the lungs	ORPHA:2204
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency, Hypogonadism	OMIM:618681
Diamond-Blackfan Anemia 6	Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Failure to thr...	OMIM:612561
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Panniculitis, Pancytopenia, Splenomegaly, Increas...	OMIM:618398
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Decreased glucosephosphate isomerase level, Cholelithiasis, Spontaneous hemolytic crise...	OMIM:613470
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia	OMIM:609886
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperuri...	ORPHA:20
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hypocalcemia, Tooth abscess, Hyperphosphaturia, Hypophosphatemia, Elevate...	ORPHA:89937
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Short stature, Brachycephaly	OMIM:300699
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Sheehan Syndrome	Normochromic anemia, Dyspareunia, Impotence, Decreased circulating cortisol level, Central adrena...	ORPHA:91355
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Polycystic kidney dysplasia, Ascites, Renal cyst, Renal hypoplasia, Pulmonary hypopl...	OMIM:614091
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abdominal distention, Hepatomegaly, Polyhydramnios, Hypocalcemia, Hypoproteinemia, Ascites, Hepat...	ORPHA:1655
Gallbladder Disease 1	Jaundice, Pancreatitis, Cholangitis, Cholelithiasis, Elevated circulating hepatic transaminase co...	OMIM:600803
Meckel Syndrome, Type 6	Abnormal internal genitalia, Aplasia of the bladder, Renal cyst, Bile duct proliferation, Pulmona...	OMIM:612284
Acute Interstitial Pneumonia	Reduced hematocrit, Atelectasis, Lymphadenopathy, Elevated circulating C-reactive protein concent...	ORPHA:79126
Kaposi Sarcoma	Skin rash, Abnormal lung morphology, Abnormality of the spleen, Weight loss, Abnormality of the l...	ORPHA:33276
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenome...	ORPHA:79477
Alpha-Mannosidosis, Adult Form	Pancytopenia, Hepatosplenomegaly, Ataxia, Pneumonia, Oligosacchariduria	ORPHA:309288
Chronic Mucocutaneous Candidiasis	Cheilitis, Hematuria, Abnormal vagina morphology, Recurrent urinary tract infections, Skin rash, ...	ORPHA:1334
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Ovalocytosis, Southeast Asian	Elliptocytosis, Hemolytic anemia	OMIM:166900
Non-Distal Duplication 10Q	Short stature, Frontal bossing, Brachycephaly	ORPHA:1695
Anemia, Congenital Dyserythropoietic, Type Iiia	Jaundice, Reduced haptoglobin level, Macrocytic anemia, Hemosiderinuria, Anemia of inadequate pro...	OMIM:105600
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Jaundice, Hemolytic-uremic syndrome, Methylmalonic acidemia, Hyperhomocystinemia,...	ORPHA:79282
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Pancreatitis, Hypokalemia, Acute colitis, Anuria, Leukocytosis, Reticulocyto...	ORPHA:90038
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Complement Factor H Deficiency	Thickened glomerular basement membrane, Hematuria, Glomerular subendothelial electron-dense depos...	OMIM:609814
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Abdominal distention, Hepatomegaly, Increased hepatic glycogen content, Hep...	ORPHA:2088
Chédiak-Higashi Syndrome	Decreased liver function, Hypertriglyceridemia, Jaundice, Elevated circulating hepatic transamina...	ORPHA:167
Nephronophthisis 9	Polyuria, Nephronophthisis, Anemia, Renal cortical microcysts, Stage 5 chronic kidney disease	OMIM:613824
Ogden Syndrome	Enlarged kidney, Cardiomegaly, Jaundice, Polycystic kidney dysplasia, Pulmonary artery stenosis, ...	OMIM:300855
Toxic Epidermal Necrolysis	Pancreatitis, Anemia, Neutropenia, Elevated circulating hepatic transaminase concentration, Abnor...	ORPHA:537
Vexas Syndrome	Nasal chondritis, Elevated circulating C-reactive protein concentration, Macrocytic anemia, Arter...	OMIM:301054
Peripheral Primitive Neuroectodermal Tumor	Pelvic mass, Neoplasm of the pancreas, Pancreatitis, Jaundice, Anemia, Ovarian neoplasm, Ascites,...	ORPHA:370348
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased...	OMIM:617052
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Alexander Disease Type I	Cachexia, Failure to thrive, Ataxia	ORPHA:363717
Iga Nephropathy, Susceptibility To, 2	Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease	OMIM:613944
Ciliary Dyskinesia, Primary, 25	Recurrent otitis media, Infertility, Chronic rhinitis, Recurrent pneumonia, Recurrent sinusitis, ...	OMIM:615482
Hamamy Syndrome	Hypochromic anemia, Cryptorchidism, Hypoparathyroidism, Microcytic anemia	OMIM:611174
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Increased urinary copper concentration, Copper accumulation in liver, Increased circul...	ORPHA:209919
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Recurrent lower respiratory tract ...	ORPHA:169154
Chronic Beryllium Disease	Hypersensitivity pneumonitis, Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T ...	ORPHA:133
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Delayed puberty, Recurrent lower respiratory tract infections, Neutr...	OMIM:615952
Neonatal Alloimmune Neutropenia	Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Maternal diabetes	ORPHA:464370
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Renal insufficiency, Hyperuricemia, Arthritis, Uric acid nephrolithiasis, Cr...	ORPHA:411543
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Periodontit...	ORPHA:2686
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Liver abscess, Anemia, Elevated circulating hepatic transaminase concentration, Ele...	ORPHA:67
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Malar rash, Myositis, Skin rash, P...	OMIM:615934
Pelizaeus-Merzbacher Disease	Cachexia, Gait disturbance, Ataxia, Failure to thrive in infancy, Recurrent respiratory infection...	ORPHA:702
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Episodic vomiting, Abnormality of Krebs cycle metabolism, Ragged-red muscle fibers,...	ORPHA:255210
Dyskeratosis Congenita, Autosomal Recessive 1	Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Pulmonary fibrosis,...	OMIM:224230
Isolated Congenital Hypoglossia/Aglossia	Weight loss, Aspiration pneumonia	ORPHA:141152
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Nephrotic syndrome, Ataxia, Proteinuria, Hypoalbuminemia, Dif...	OMIM:251300
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Urinary excretion of sialy...	OMIM:256550
B4Galt1-Cdg	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal circulating enzym...	ORPHA:79332
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Arthritis, ...	ORPHA:85414
Primary Hyperoxaluria Type 1	Calcinosis, Hematuria, Anemia, Decreased glomerular filtration rate, Hyperoxaluria, Recurrent uri...	ORPHA:93598
Elliptocytosis 3	Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume	OMIM:617948
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevated circulatin...	OMIM:210250
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pn...	OMIM:620296
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, Type I diabetes mellitus, T-cell acute lymphoblastic leukemias...	OMIM:620044
Indomethacin Embryofetopathy	Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1909
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Acute leukemia, Cachexia, Pollakisuria, Recurrent pneumonia, Thrombo...	ORPHA:647
Hyperprolinemia Type 2	Prolinuria, Abnormal circulating enzyme concentration or activity, Hyperalaninemia, Increased uri...	ORPHA:79101
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Inability to walk, Abnormality of the urinary system, Elevated circulating creatine kinase concen...	ORPHA:90117
Mmep Syndrome	Microphthalmia	ORPHA:3434
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Renal tubular acidosis, Decreased circulating carnitine concentration, Decreased ac...	ORPHA:431361
Fgfr2-Related Bent Bone Dysplasia	Clitoral hypertrophy, Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Coccidioidomycosis	Abnormality of the endocrine system, Skin rash, Granuloma, Pericarditis, Erythema nodosum, Morbil...	ORPHA:228123
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Elevated circu...	OMIM:619484
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Elevated circulating hepatic transaminase co...	ORPHA:284426
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:247598
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Hemo...	OMIM:301078
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Peroxisome Biogenesis Disorder 11A (Zellweger)	Decreased liver function, Polymicrogyria, Elevated circulating hepatic transaminase concentration...	OMIM:614883
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Increased circulating lactate dehydrogenase con...	OMIM:259700
Immunodeficiency 46	Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia, Frontal encephalocele	OMIM:218670
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Pulmonary insufficiency, Death in childhood, Bradycardia, Pulmon...	OMIM:614437
Galloway-Mowat Syndrome 9	Stage 5 chronic kidney disease, Choreoathetosis, Diffuse mesangial sclerosis, Focal segmental glo...	OMIM:619603
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Good Syndrome	Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Recurrent urinary tract infec...	ORPHA:169105
Behçet Disease	Optic neuritis, Pericarditis, Ataxia, Splenomegaly, Recurrent aphthous stomatitis, Weight loss, K...	ORPHA:117
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Cachexia, Failure to thrive in infancy, Inability to walk	OMIM:616801
Peroxisome Biogenesis Disorder 1B	Cirrhosis, Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis	OMIM:601539
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Absent vas deferens, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, ...	ORPHA:93111
Cystinuria	Argininuria, Recurrent urinary tract infections, Nephrolithiasis, Ornithinuria, Hyperlysinuria, R...	OMIM:220100
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Peroxisome Biogenesis Disorder 5B	Decreased liver function, Death in childhood, Elevated circulating phytanic acid concentration	OMIM:614867
Congenital Disorder Of Deglycosylation 1	3-Methylglutaconic aciduria, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:615273
19Q13.11 Microdeletion Syndrome	Hypospadias, Cachexia, Bifid scrotum, Failure to thrive, Recurrent respiratory infections, Crypto...	ORPHA:217346
Silver-Russell Syndrome	Hypospadias, Abnormal vagina morphology, Abnormal male external genitalia morphology, Cachexia, D...	ORPHA:813
Hereditary Xanthinuria	Acute kidney injury, Hematuria, Xanthinuria, Aldehyde oxidase deficiency, Hypouricemia, Recurrent...	ORPHA:3467
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement memb...	OMIM:301050
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Anemia, Failure to thrive, Weight loss, Patent ductus arteriosus, Recurrent respira...	ORPHA:1842
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Adams-Oliver Syndrome	Cirrhosis, Pulmonary artery atresia, Ascites, Portal hypertension, Failure to thrive, Leukopenia,...	ORPHA:974
Immunodeficiency 31C	Autoimmune hemolytic anemia, Chronic oral candidiasis, Delayed puberty, Hepatomegaly, Impaired ly...	OMIM:614162
Roifman Syndrome	Recurrent otitis media, Lymphadenopathy, Eczematoid dermatitis, Recurrent pneumonia, Hepatospleno...	ORPHA:353298
Cranioectodermal Dysplasia 1	Hepatomegaly, Recurrent respiratory infections, Hypocalcemia, Hepatic fibrosis, Stage 1 chronic k...	OMIM:218330
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Atelectasis, Periportal fibrosis, Hypoplastic nipples, Ascites, Renal hypoplasia, N...	OMIM:269860
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Patent...	ORPHA:30
Pulmonary Hemosiderosis	Recurrent intrapulmonary hemorrhage, Iron deficiency anemia, Pulmonary fibrosis	OMIM:178550
Lichen Planopilaris	Hepatitis	ORPHA:525
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly, Increased total bilirubin	ORPHA:90037
Peroxisome Biogenesis Disorder 8B	Decreased liver function, Corpus callosum atrophy, Constipation, Elevated circulating phytanic ac...	OMIM:614877
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalciuria, Hypocalcemia, Mucopolysacchariduria, Renal agenesis, Hypothyroidism...	OMIM:618440
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Anemia, Cervical lymphadenopathy, Inguinal...	OMIM:620514
Hyperbiliverdinemia	Decreased liver function, Elevated circulating biliverdin concentration, Cholestasis, Cholelithiasis	OMIM:614156
Glycogen Storage Disease Ixb	Hepatomegaly, Hyperuricemia, Increased hepatic glycogen content, Splenomegaly, Reduced hepatic ph...	OMIM:261750
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Redu...	OMIM:306000
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Diabetes mellitus, Thrombocytopenia, Lethargy	ORPHA:49827
Infection-Related Hemolytic Uremic Syndrome	Decreased urine output, Oliguria, Myocarditis, Acute kidney injury, Hypocalcemia, Pleural empyema...	ORPHA:544482
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Ascites, Increased circulating lactate dehydrogenase conc...	ORPHA:99827
Selective Igm Deficiency	Decreased proportion of CD3-positive T cells, Crohn's disease, Decreased proportion of transition...	ORPHA:331235
Hereditary Folate Malabsorption	Cheilitis, Pancytopenia, Recurrent urinary tract infections, Megaloblastic anemia, Failure to thr...	ORPHA:90045
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Oligomeganephronia	Elevated circulating creatinine concentration, Abnormal nephron morphology, Decreased glomerular ...	ORPHA:2260
Acquired Ichthyosis	Recurrent skin infections, Renal insufficiency	ORPHA:454
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr...	ORPHA:85445
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Decreased liver function, Hepatomegaly, Death in childhood, Weakness of facial musculature, Hyper...	OMIM:220110
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Atelis Syndrome 1	Anemia, Eczematoid dermatitis, Hypothyroidism, Thrombocytopenia, Leukopenia, Bronchiectasis, Glue...	OMIM:620184
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Anemia, Elevated urinary vanillylmandelic acid, Elevated ur...	OMIM:256700
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Cirrhosis, Elevated circulating hepatic transaminase concentration, Increased serum bile acid con...	OMIM:242150
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Glomerulopathy, Hepatomegaly, Pancreatitis, Secondary amenorrhea, Dysmenorr...	ORPHA:2348
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy, Pleural effusion, Abnormal lung morphology, Weight loss, Abnormal ...	ORPHA:50251
Mandibuloacral Dysplasia Progeroid Syndrome	Hypertriglyceridemia, Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepati...	OMIM:619127
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Immunodeficiency 40	Chronic oral candidiasis, Hepatomegaly, Macrovesicular hepatic steatosis, Recurrent otitis media,...	OMIM:616433
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal circulating lipid concentration, Cachexia, Weight loss, Type I diabetes mellitus, Hyperl...	ORPHA:1979
Lymphatic Malformation 8	Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis	OMIM:618773
Myopathy With Extrapyramidal Signs	Hypervalinemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Difficulty...	OMIM:615673
Imerslund-Grasbeck Syndrome 2	Anemia, Recurrent urinary tract infections, Megaloblastic anemia, Proteinuria, Renal insufficienc...	OMIM:618882
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly	OMIM:309530
Ciliary Dyskinesia, Primary, 14	Male infertility, Polysplenia, Recurrent pneumonia, Reduced sperm motility, Otitis media, Bronchi...	OMIM:613807
Combined Immunodeficiency Due To Dock8 Deficiency	Chronic otitis media, B lymphocytopenia, Recurrent bacterial skin infections, Atopic dermatitis, ...	ORPHA:217390
Neuroleptic Malignant Syndrome	Hyperkalemia, Acute kidney injury, Urinary incontinence, Elevated circulating hepatic transaminas...	ORPHA:94093
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Acute lymp...	ORPHA:486
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Recurrent si...	OMIM:619846
Mcleod Syndrome	Hepatomegaly, Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Elev...	OMIM:300842
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Hypoplasia of penis, Pancytopenia, Bifid scrotum, Hypothyroidism, Renal hypoplasia, Renal dysplas...	ORPHA:85321
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Colonic eosinophilia, Bronchiectasis, Eosinophilia, Ulcerative colitis	OMIM:617638
Kearns-Sayre Syndrome	Hypoparathyroidism, Renal tubular acidosis, Sideroblastic anemia, Primary adrenal insufficiency, ...	OMIM:530000
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Anemia, Elevated circulating C-reactive protein concentration, Arthritis, Skin rash, Palmoplantar...	ORPHA:324964
Vascular Malformation, Primary Intraosseous	Elevated circulating alkaline phosphatase concentration, Hypochromic anemia	OMIM:606893
Craniotelencephalic Dysplasia	Frontal encephalocele, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Arthriti...	ORPHA:411536
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Hepatic failure	ORPHA:3196
Juvenile Polyposis Of Infancy	Anemia, Cachexia, Freckled genitalia, Patent ductus arteriosus, Hypoalbuminemia, Refractory anemia	ORPHA:79076
Congenital Disorder Of Glycosylation, Type Iig	Giant platelets, Anemia, Hemolytic-uremic syndrome, Hypospadias, Hydronephrosis, Thrombocytopenia...	OMIM:611209
Familial Mediterranean Fever, Autosomal Dominant	Pleuritis, Erysipelas, Proteinuria, Peritonitis, Renal amyloidosis, Renal insufficiency	OMIM:134610
Epidermolysis Bullosa Simplex With Pyloric Atresia	Glomerular sclerosis, Aplasia of the bladder, Elevated circulating creatine kinase concentration,...	ORPHA:158684
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Blepharitis, Thrombocytopenia,...	ORPHA:158029
Vipoma	Neoplasm of the pancreas, Normochromic anemia, Ascites, Pituitary adenoma, Parathyroid adenoma, N...	ORPHA:97282
Roifman Syndrome	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Eczematoid dermatitis, Recurrent pneumonia...	OMIM:616651
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Primary hypothyroidism, Ascites, Urethrovaginal fistula, Splenomegaly, Sept...	OMIM:243800
Digeorge Syndrome	Seborrheic dermatitis, Recurrent sinusitis, Ovarian cyst, Splenomegaly, Abnormal thymus morpholog...	OMIM:188400
Poems Syndrome	Hepatomegaly, Erectile dysfunction, Lymphadenopathy, Abnormality of the endocrine system, Viscero...	ORPHA:2905
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Hypophosphatemic rickets, Anemia, Proximal tubulopathy, Organic a...	OMIM:619743
Cocaine Intoxication	Pneumothorax, Acute kidney injury, Pulmonary edema, Hematuria, Colitis, Elevated circulating crea...	ORPHA:90068
T-Cell Immunodeficiency With Thymic Aplasia	Pyoderma, Emphysema, Aplasia of the thymus, Recurrent bronchopulmonary infections, T lymphocytope...	OMIM:242700
Trichohepatoneurodevelopmental Syndrome	Decreased liver function, Cerebral atrophy, Steatorrhea, Recurrent otitis media, Hepatomegaly, Th...	OMIM:618268
Flynn-Aird Syndrome	Cachexia, Primary adrenal insufficiency, Ataxia, Type II diabetes mellitus, Abnormality of the th...	ORPHA:2047
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Renal Hypoplasia	Abnormal renal tubule morphology, Unilateral renal agenesis, Pelvic kidney, Recurrent urinary tra...	ORPHA:93101
Joubert Syndrome 4	Abnormal renal medulla morphology, Nephronophthisis, Ataxia, Stage 5 chronic kidney disease, Rena...	OMIM:609583
Listeriosis	Pericarditis, Pustule, Ataxia, Cholecystitis, Granulomatosis, Myocarditis, Acute kidney injury, J...	ORPHA:533
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Albumi...	OMIM:620536
Familial Mediterranean Fever	Intestinal obstruction, Gastrointestinal infarctions, Pedal edema, Diarrhea, Vasculitis, Abdomina...	ORPHA:342
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent otitis media, Lymphadenopathy, Juvenile rheumatoid arthritis, Recurrent respiratory inf...	OMIM:607944
Congenital Disorder Of Glycosylation, Type Ii	Hypothyroidism, Hepatomegaly, Decreased body weight, Iron deficiency anemia	OMIM:607906
Serotonin Syndrome	Diarrhea, Hypertension, Hypotension, Nausea, Rhabdomyolysis, Tachycardia, Hepatic failure	ORPHA:43116
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Polycystic kidney dysplasia, Ascites, Failure to thrive, Splenomegaly, Hypoalbumine...	OMIM:608776
Nephronophthisis 18	Nephronophthisis, Portal fibrosis, Cholestasis, Thickened glomerular basement membrane, Renal tub...	OMIM:615862
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, E...	OMIM:124000
Immunodeficiency 92	Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ...	OMIM:619652
Glucagonoma	Neoplasm of the pancreas, Normochromic anemia, Skin rash, Ascites, Pituitary adenoma, Parathyroid...	ORPHA:97280
Bile Acid Malabsorption, Primary, 2	Decreased circulating chenodeoxycholic acid concentration, Periportal fibrosis, Elevated circulat...	OMIM:619481
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Recurrent pneumonia, Patent ductus arteriosus, Overweight, Increased...	OMIM:619769
Colchicine Poisoning	Myocarditis, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatre...	ORPHA:31824
Aminopterin Syndrome Sine Aminopterin	Brachycephaly, Short stature, Frontal bossing, Umbilical hernia, Intrauterine growth retardation	OMIM:600325
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c...	OMIM:602088
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Hyperuricemia, Se...	ORPHA:79083
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopat...	OMIM:612387
Fabry Disease	Delayed puberty, Urinary mulberry cells, Anemia, Decreased alpha-galactosidase A activity, Protei...	OMIM:301500
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Cholelithiasis, Recurrent tonsillitis, Atopic dermatitis, Glucocortocoid-insensitiv...	ORPHA:171876
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Periodontitis, Recurrent bacte...	OMIM:214500
Elliptocytosis 2	Elliptocytosis, Hemolytic anemia, Reticulocytosis	OMIM:130600
Nephronophthisis 1	Polyuria, Nephronophthisis, Anemia, Hyposthenuria, Tubulointerstitial fibrosis, Tubular basement ...	OMIM:256100
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Broad-based gait, Cachexia, Decreased testicular size, Obesity, Hypogonadism	ORPHA:85293
Biotinidase Deficiency	Decreased circulating biotinidase concentration, Hepatomegaly, Seborrheic dermatitis, Skin rash, ...	OMIM:253260
Meckel Syndrome, Type 8	Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Pericardial effusion	OMIM:613885
Xanthinuria, Type Ii	Xanthinuria, Hypouricemia, Nephrolithiasis, Increased circulating hypoxanthine concentration, Inc...	OMIM:603592
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Hypotrigly...	OMIM:618885
Nephrotic Syndrome, Type 8	Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypoa...	OMIM:615244
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly	OMIM:620200
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Decreased liver function, Hepatomegaly, Hypertrophic cardiomyopathy, Skeletal muscle steatosis, V...	ORPHA:436271
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pneumonia, Pulmonary hemorrhage, N...	ORPHA:238459
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Iron deficiency anemia, Thrombocytosis, Elevated circulating C-reactive protein...	OMIM:301074
Tempi Syndrome	Abnormality of the kidney, Abnormality of the pulmonary vasculature, Transudative pleural effusio...	ORPHA:284227
Immunodeficiency, Common Variable, 7	Recurrent urinary tract infections, Recurrent respiratory infections, Splenomegaly	OMIM:614699
Refsum Disease	Ataxia, Renal insufficiency, Splenomegaly	ORPHA:773
Snakebite Envenomation	Hypopituitarism, Acute kidney injury, Hyponatremia, Thrombocytopenia	ORPHA:449285
Juvenile Amyotrophic Lateral Sclerosis	Tip-toe gait, Urinary incontinence, Difficulty walking, Inability to walk, Cachexia, Ataxia	ORPHA:300605
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Wild Type Attr Amyloidosis	Pulmonary edema, Abnormal pulmonary interstitial morphology, Hepatomegaly, Elevated circulating a...	ORPHA:330001
Congenital Muscular Dystrophy, Fukuyama Type	Intrauterine growth retardation, Plagiocephaly, Dolichocephaly, Brachycephaly	ORPHA:272
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Elevated circulating hepatic transaminase concentration, Dehydration, Vomiting, Hyperammonemia, A...	OMIM:615453
Central Diabetes Insipidus	Diabetes insipidus, Hyponatremia, Failure to thrive, Nocturia, Weight loss, Lethargy	ORPHA:178029
Intellectual Developmental Disorder, Autosomal Dominant 26	Intrauterine growth retardation, Brachycephaly, Short stature, Umbilical hernia	OMIM:615834
Idiopathic Chronic Eosinophilic Pneumonia	Hypersensitivity pneumonitis, Atelectasis, Elevated circulating C-reactive protein concentration,...	ORPHA:2902
Potocki-Shaffer Syndrome	Brachycephaly, Parietal foramina, Turricephaly	OMIM:601224
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Pancytopenia, Crohn's disease, Splenomegaly, Recurrent sinopulmonary in...	OMIM:618394
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Acute kidney injury, Renal insufficiency, Hyperuricemia, Dysuria, Uric acid nephrolithiasis, Macr...	ORPHA:79233
Autosomal Dominant Optic Atrophy, Classic Form	Macrocytic anemia, Gait disturbance, Hypothyroidism, Ataxia, Hypogonadism, Diabetes mellitus	ORPHA:98673
Riddle Syndrome	Abnormal pulmonary interstitial morphology, Arthritis, Enuresis nocturna, Bronchitis, Gait distur...	ORPHA:420741
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Skin rash, Multiple pulmonary cysts, ...	ORPHA:79128
Macrocephaly/Autism Syndrome	Large for gestational age, Hepatomegaly, Recurrent otitis media, Obesity, Splenomegaly, Lymphopen...	OMIM:605309
Nephroblastoma	Hematuria, Lymphadenopathy, Neoplasm of the lung, Weight loss, Nephroblastoma, Neoplasm of the liver	ORPHA:654
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperhomocystinemia, Folate-responsive megaloblasti...	OMIM:601775
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Jaundice, Hepatomegaly, Inability to walk, Ataxia, Splenomegaly, Conjugated hyperbi...	OMIM:608885
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Decreased liver function	ORPHA:512260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Abnormal left ventricular function, Cardiomyopathy	OMIM:613155
Liddle Syndrome	Nephropathy, Hypokalemia, Renal insufficiency	ORPHA:526
Nail-Patella Syndrome	Hematuria, Nephrotic syndrome, Proteinuria, Renal insufficiency, Glomerulonephritis	OMIM:161200
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Igg4-Related Aortitis	Elevated circulating C-reactive protein concentration, Hydronephrosis, Weight loss, Hypereosinoph...	ORPHA:449400
Congenital Factor Xiii Deficiency	Intramuscular hematoma, Inflammation of the large intestine, Joint hemorrhage, Epistaxis, Cerebra...	ORPHA:331
Potocki-Shaffer Syndrome	Delayed puberty, Parietal foramina, Brachycephaly	ORPHA:52022
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Spherocytosis, Type 2	Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Iga Nephropathy, Susceptibility To, 1	Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease	OMIM:161950
Adenine Phosphoribosyltransferase Deficiency	Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration...	OMIM:614723
X-Linked Intellectual Disability, Snyder Type	Cerebral edema, Decreased muscle mass, Megalencephaly, Camptodactyly	ORPHA:3063
Hereditary Methemoglobinemia	Athetosis, Small for gestational age, Methemoglobinemia	ORPHA:621
Lymphatic Malformation 7	Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc...	OMIM:617300
Multicentric Carpotarsal Osteolysis Syndrome	Inability to walk, Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal in...	OMIM:166300
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Hellp Syndrome	Acute kidney injury, Pulmonary edema, Elevated circulating hepatic transaminase concentration, De...	ORPHA:244242
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Multiple glomerular cysts, Abnormal rena...	OMIM:137920
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Normochromic anemia, Elevated circulating creatine kinase concentration, Thromboc...	OMIM:618775
Hypomagnesemia 3, Renal	Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concentration, Stage 5 c...	OMIM:248250
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Decreased fertility, Cirrhosis, Hepatomegaly, Elevated circulating hepatic ...	OMIM:269700
Juvenile Nephropathic Cystinosis	Elevated alkaline phosphatase of bone origin, Proximal tubulopathy, Hypophosphatemia, Elevated ci...	ORPHA:411634
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Iga Nephropathy, Susceptibility To, 3	Hematuria, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulus, Stage 5 chr...	OMIM:616818
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Fanconi Anemia, Complementation Group T	Thrombocytopenia, Anemia, Acute myeloid leukemia, Pancytopenia	OMIM:616435
Attrv30M Amyloidosis	Impotence, Abnormal renal physiology, Weight loss, Cardiomegaly, Nephropathy	ORPHA:85447
Breath-Holding Spells	Iron deficiency anemia	OMIM:607578
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia	OMIM:300367
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Flat occiput	OMIM:618736
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Decreased acid ceramidase activity, Arthritis, Failure to thriv...	OMIM:228000
Adenine Phosphoribosyltransferase Deficiency	Acute kidney injury, Abnormal circulating enzyme concentration or activity, Recurrent urinary tra...	ORPHA:976
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Sézary Syndrome	Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Abnormal pleura morp...	ORPHA:3162
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, H...	ORPHA:99812
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Short stature, Frontal bossing, Brachycephaly, Craniosynostosis	ORPHA:314575
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Elevated circulating C-reactive protein concentration, Stomatitis, Skin rash, Pustu...	OMIM:612852
Fetal Gaucher Disease	Stillbirth, Hepatomegaly, Pancytopenia, Neonatal death, Thrombocytopenia, Abnormality of the sple...	ORPHA:85212
Beta-Ketothiolase Deficiency	Hepatomegaly, Hyperuricemia, Leukocytosis, Hyperammonemia, Ataxia, Weight loss, Thrombocytosis, K...	ORPHA:134
Relapsing Polychondritis	Myocarditis, Glomerulopathy, Hematuria, Recurrent aphthous stomatitis, Atelectasis, Inflammatory ...	ORPHA:728
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly	ORPHA:459074
Ataxia-Telangiectasia	Delayed puberty, Abnormal spermatogenesis, T lymphocytopenia, Sinusitis, Female hypogonadism, Ata...	OMIM:208900
Bloom Syndrome	Cheilitis, Bronchitis, Skin rash, Acute myeloid leukemia, Recurrent tonsillitis, Azoospermia, Oli...	ORPHA:125
Acrorenal Syndrome	Abnormal renal morphology, Renal hypoplasia/aplasia, Renal insufficiency	ORPHA:971
Rigid Spine Syndrome	Pneumonia, Waddling gait	ORPHA:97244
Kleefstra Syndrome 2	Growth delay, Plagiocephaly	OMIM:617768
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Renal cortical adenoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Pa...	ORPHA:97290
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Solitary Fibrous Tumor	Pelvic mass, Hypophosphatemic rickets, Abnormal peritoneum morphology, Hypoinsulinemia, Neoplasm ...	ORPHA:2126
Renal Nutcracker Syndrome	Hematuria, Anemia, Infertility, Renal artery stenosis, Dyspareunia, Vulval varicose vein, Microsc...	ORPHA:71273
Alagille Syndrome 2	Cholestatic liver disease, Hematuria, Renal tubular acidosis, Cholestasis, Renal cyst, Renal hypo...	OMIM:610205
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Rectal abscess, Peritoneal abscess, Hypoplasia of the thymus, Hashim...	ORPHA:436252
Meckel Syndrome 14	Pneumothorax, Polycystic kidney dysplasia, Aplasia of the uterus, Pulmonary hypoplasia, Ambiguous...	OMIM:619879
Hereditary Fructose Intolerance	Abdominal distention, Hypermagnesemia, Jaundice, Hepatomegaly, Hyperuricemia, Diarrhea, Reduced c...	ORPHA:469
Craniosynostosis, Herrmann-Opitz Type	Brachycephaly, Turricephaly, Short stature, Intrauterine growth retardation, Craniosynostosis	ORPHA:2145
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Diamond-Blackfan Anemia 10	Anemia, Ectopic kidney, Macrocytic anemia, Reticulocytopenia, Renal duplication, Steroid-responsi...	OMIM:613309
Nephronophthisis 4	Polyuria, Nephronophthisis, Anemia, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 c...	OMIM:606966
Joubert Syndrome 1	Hepatic fibrosis, Nephropathy, Ataxia, Renal cyst	OMIM:213300
Fanconi Anemia, Complementation Group V	Thrombocytopenia, Anemia, Neutropenia	OMIM:617243
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Recurrent pneumonia, Thrombocytopenia, Recurrent sinusitis, Atrophic...	OMIM:616576
Whim Syndrome	Limb ataxia, Severe periodontitis, Atelectasis, Parotitis, Lymphadenitis, Abnormal neutrophil mor...	ORPHA:51636
Takayasu Arteritis	Anemia, Inflammatory abnormality of the eye, Arthritis, Weight loss, Increased inflammatory response	ORPHA:3287
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Frontal bossing	OMIM:619264
Peroxisomal Acyl-Coa Oxidase Deficiency	Brachycephaly, Frontal bossing	OMIM:264470
Orthostatic Hypotension 2	Anemia	OMIM:618182
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Delayed puberty, Cheilitis, Abnormal circulating calcium-phosphate regulati...	ORPHA:534
Neurodegeneration And Seizures Due To Copper Transport Defect	Pneumothorax, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal c...	OMIM:620306
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypocalcemia, Hy...	ORPHA:26793
Familial Isolated Hyperparathyroidism	Elevated circulating parathyroid hormone level, Hypercalciuria, Primary hyperparathyroidism, Hype...	ORPHA:99879
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency	OMIM:249660
Dent Disease 1	Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ...	OMIM:300009
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Ataxia, Hyperuricemia	ORPHA:3222
Craniodigital-Intellectual Disability Syndrome	Short stature, Brachycephaly, Spina bifida occulta	ORPHA:1514
Immunodeficiency 62	Recurrent lower respiratory tract infections, B lymphocytopenia, Increased proportion of transiti...	OMIM:618459
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia, Recurrent respiratory infections	ORPHA:1389
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Immunodeficiency 13	Recurrent otitis media, Bronchiolitis obliterans organizing pneumonia, B lymphocytopenia, T lymph...	OMIM:615518
Posterior Urethral Valve	Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no...	ORPHA:93110
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Microphthalmia	ORPHA:324416
Exercise-Induced Malignant Hyperthermia	Decreased liver function, Hyperkalemia, Prolonged QT interval, Hypocalcemia, Sinus tachycardia, A...	ORPHA:466650
Chromosome 15Q25 Deletion Syndrome	Dilatation of renal calices, Cryptorchidism, Polysplenia, Macrocytic anemia	OMIM:614294
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Glycogen Storage Disease Xi	Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Pyomyositis	Testicular teratoma, Myositis, Leukocytosis, Weight loss, Recurrent cutaneous abscess formation, ...	ORPHA:764
Hurler-Scheie Syndrome	Abnormality of the tonsils, Rhinitis, Hepatomegaly, Splenomegaly	ORPHA:93476
Fanconi Renotubular Syndrome 1	Low-molecular-weight proteinuria, Elevated circulating alkaline phosphatase concentration, Hypoka...	OMIM:134600
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Microphthalmia, Retinal neovascularization, Lymphedema, Vitreous hemorrha...	ORPHA:891
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Accessory spleen, Asplenia, Male pseudohermap...	ORPHA:564
Meningococcal Meningitis	Elevated circulating C-reactive protein concentration, Skin rash, Increased circulating procalcit...	ORPHA:33475
Neuropathy, Congenital Hypomyelinating, 3	Cachexia, Neonatal death	OMIM:618186
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anemia, Inability to walk, Abnormality of the endocrine system, Broad-based gait, Vesicoureteral ...	ORPHA:438213
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Oligohydramnios, Hypertrophic cardiomyopathy	OMIM:619053
Rat-Bite Fever	Abdominal aseptic abscess, Morbilliform rash, Myocarditis, Pancreatitis, Anemia, Arthritis, Skin ...	ORPHA:31205
Immunodeficiency 36 With Lymphoproliferation	Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, B lymphocytopenia, Incr...	OMIM:616005
Ciliary Dyskinesia, Primary, 1	Chronic otitis media, Male infertility, Atelectasis, Recurrent bronchitis, Chronic rhinitis, Aspl...	OMIM:244400
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular ca...	OMIM:600740
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Short stature, Brachycephaly	ORPHA:320385
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Typhoid	Abnormal pulmonary interstitial morphology, Hepatomegaly, Skin rash, Ataxia, Splenomegaly, Lethar...	ORPHA:99745
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the kidney, Anemia, Hypoplasia of penis, Recurrent urinary tract infections, Male ...	ORPHA:847
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for...	ORPHA:1209
Renal Dysplasia	Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo...	ORPHA:93108
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Abnormal eosinophil morphology, Emphysema, Weight loss	ORPHA:1164
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Pulmonary fibrosis, Testicular...	OMIM:618165
Microscopic Polyangiitis	Glomerulopathy, Hematuria, Pancreatitis, Arthritis, Skin rash, Episcleritis, Sinusitis, Pericardi...	ORPHA:727
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Cachexia, Athetosis, Ataxia	ORPHA:52503
Craniosynostosis 2	Brachycephaly, Turricephaly, Unicoronal synostosis, Bicoronal synostosis, Trigonocephaly, Frontal...	OMIM:604757
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Absent periph...	OMIM:600802
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Polyhydramnios	ORPHA:2547
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Methemoglobinemia And Ambiguous Genitalia	Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Decreased circulatin...	OMIM:250790
Papa Syndrome	Lymphadenopathy, Myositis, Arthritis, Crohn's disease, Pustule, Proteinuria, Acne, Type I diabete...	ORPHA:69126
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Recurrent otitis media, Absent peripheral lymph nodes in presence of infection, Chronic mucocutan...	ORPHA:98813
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Polycystic kidney dysplasia, Gout, Hepatic cysts, Stage 5 c...	OMIM:618061
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Renal cyst, Congenital hepatic fibrosis, Multicystic kidney dysplasia	ORPHA:2031
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Cebalid Syndrome	Brachycephaly, Plagiocephaly, Turricephaly, Platystencephaly, Dolichocephaly	OMIM:618774
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebral atrophy, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly...	OMIM:203700
Poikiloderma With Neutropenia	Recurrent otitis media, Skin rash, Elevated circulating creatine kinase concentration, Recurrent ...	OMIM:604173
Acquired Von Willebrand Syndrome	Normocytic anemia, Hematuria, Menorrhagia, Metrorrhagia, Refractory anemia, Hypochromic anemia	ORPHA:99147
Fabry Disease	Abnormal circulating lipid concentration, Abnormal renal tubule morphology, Glomerulopathy, Delay...	ORPHA:324
Peroxisome Biogenesis Disorder 6B	Decreased liver function, Distal amyotrophy, Elevated circulating phytanic acid concentration, Pr...	OMIM:614871
Global Developmental Delay With Or Without Impaired Intellectual Development	Short stature, Frontal bossing, Plagiocephaly	OMIM:618330
Ciliary Dyskinesia, Primary, 9	Chronic otitis media, Pneumonia, Recurrent otitis media, Male infertility, Chronic rhinitis, Recu...	OMIM:612444
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Short stature, Brachycephaly	OMIM:309541
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Crouzon Syndrome With Acanthosis Nigricans	Brachycephaly, Craniosynostosis	OMIM:612247
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Reduced tissue alpha-N-acetylglucosaminidase activity, Splenomegaly, Recurrent uppe...	OMIM:252920
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom...	ORPHA:90044
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Hyper-Igd Syndrome	Chronic oral candidiasis, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Lymphadenitis, Neu...	OMIM:260920
Gaucher Disease Type 3	Delayed puberty, Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Hematuria, Pan...	ORPHA:77261
Parathyroid Carcinoma	Parathyroid carcinoma, Thyroid carcinoma, Elevated circulating parathyroid hormone level, Pancrea...	ORPHA:143
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Lymphadenopathy, Hip osteoarthritis, Knee osteoarthritis, Arthritis, Synovitis, Hepatospl...	ORPHA:85408
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath...	ORPHA:319487
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, B lymphocytopenia, Chronic bronchitis, Recurrent upper respiratory tract infections	OMIM:614069
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Short stature, Brachycephaly	OMIM:615031
Glucose-Galactose Malabsorption	Hematuria, Nephrolithiasis, Hypernatremia, Failure to thrive, Hypercalcemia, Weight loss, Renal i...	ORPHA:35710
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Cholestasis, Increased circulating lactate dehydrogenase concentration, Ren...	OMIM:614866
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level, Abnormality of circulating cortisol level, Left v...	ORPHA:320
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Hyposerinemia, Megaloblastic anemia, Athetosis, Esophagitis, Hypoglycinemia, Failure to thrive, H...	ORPHA:79351
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal l...	OMIM:181000
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	3-Methylglutaconic aciduria, Renal tubular acidosis, Hyperalaninemia, Elevated circulating creati...	ORPHA:324525
Polymyositis	Abnormal renal tubule morphology, Abnormal pulmonary interstitial morphology, Hepatomegaly, Eleva...	ORPHA:732
Cofs Syndrome	Microphthalmia	ORPHA:1466
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Panniculitis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased p...	OMIM:617099
Cornelia De Lange Syndrome 2	Intrauterine growth retardation, Postnatal growth retardation, Short stature, Brachycephaly	OMIM:300590
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent aphthous stomatitis, Recurrent lower respiratory tract inf...	OMIM:614868
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ...	OMIM:617718
Schwartz-Jampel Syndrome	Elevated circulating aldolase concentration, Cachexia, Decreased body weight, Elevated circulatin...	ORPHA:800
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormal renal tubule morphology, Abnormality of neutrophils, Ataxia, Hypochromic anemia	ORPHA:2720
Distal 16P11.2 Microdeletion Syndrome	Abnormality of the kidney, Hyperuricemia, Vesicoureteral reflux, Renal agenesis, Obesity, Protein...	ORPHA:261222
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopathy, Recurrent ...	OMIM:620233
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Decreased liver function, Hepatic cysts, Hypertension	OMIM:600666
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Muscular Hypertonia, Lethal	Pneumonia	OMIM:254120
Pseudomyxoma Peritonei	Lymphadenopathy, Abnormal peritoneum morphology, Ascites, Inflammation of the large intestine, We...	ORPHA:26790
Degcags Syndrome	Cholestasis, Abnormal spleen morphology, Leukopenia, Congenital hypoplastic anemia, Hypospadias, ...	OMIM:619488
Maternal Uniparental Disomy Of Chromosome 2	Respiratory infections in early life, Decreased response to growth hormone stimulation test, Prem...	ORPHA:96179
Gm1 Gangliosidosis	Patent ductus arteriosus, Aspiration pneumonia, Gait disturbance, Failure to thrive, Abnormal scr...	ORPHA:354
Yellow Fever	Acute kidney injury, Jaundice, Hyperbilirubinemia, Anuria, Skin rash, Acute pancreatitis, Leukocy...	ORPHA:99829
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Hepatomegaly, Panniculitis, Lymphadenopathy, Myositis, Splenomegaly	OMIM:619183
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Cachexia, Severe failure to thrive	ORPHA:371364
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Inflammatory abnormality of the eye, Ec...	ORPHA:379
Pentasomy X	Delayed puberty, Plagiocephaly, Short stature	ORPHA:11
Intellectual Developmental Disorder, Autosomal Dominant 74	Intrauterine growth retardation, Brachycephaly	OMIM:620688
Fanconi Anemia	Renal hypoplasia/aplasia, Abnormal renal morphology, Leukopenia, Hypogonadism, Hypospadias, Azoos...	ORPHA:84
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Pituitary Apoplexy	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Normochromic a...	ORPHA:95613
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cerebral atrophy, Cirrhosis, Elevated circulating hepatic transaminase ...	OMIM:613658
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Delayed puberty, Renal hypoplasia/aplasia, Elevated circulating hepati...	ORPHA:99413
17Q12 Microduplication Syndrome	Microphthalmia, Polyhydramnios	ORPHA:261272
Mosaic Monosomy X	Cholestatic liver disease, Delayed puberty, Renal hypoplasia/aplasia, Elevated circulating hepati...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Delayed puberty, Renal hypoplasia/aplasia, Elevated circulating hepati...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Delayed puberty, Renal hypoplasia/aplasia, Elevated circulating hepati...	ORPHA:881
Meckel Syndrome, Type 7	Multiple glomerular cysts, Multicystic kidney dysplasia, Cholestasis, Biliary cirrhosis, Portal h...	OMIM:267010
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Ascites, Microcephaly, Lower limb hypertonia, Generalized amyotrophy, Cerebral cort...	OMIM:301072
Pediatric-Onset Graves Disease	Increased circulating T4 concentration, Increased circulating free T3, Jaundice, Hepatomegaly, El...	ORPHA:525731
Glycogen Storage Disease Ii	Hepatomegaly, Urinary incontinence, Increased circulating NT-proBNP concentration, Recurrent resp...	OMIM:232300
Fanconi Renotubular Syndrome 2	Elevated circulating parathyroid hormone level, Decreased glomerular filtration rate, Renal phosp...	OMIM:613388
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen...	OMIM:308700
Chromosome 3Pter-P25 Deletion Syndrome	Postnatal growth retardation, Brachycephaly, Flat occiput, Trigonocephaly, Short stature, Growth ...	OMIM:613792
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Elevated total serum tryptase, Myeloproliferative d...	ORPHA:79456
Dyskeratosis Congenita, Autosomal Recessive 2	Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy	OMIM:613987
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Delayed puberty, Hepatomegaly, Hypothyroidism, Failure to thrive, Diabetes mellitus, Exocrine pan...	OMIM:616263
Hypophosphatemic Rickets, X-Linked Recessive	Low-molecular-weight proteinuria, Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciur...	OMIM:300554
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Recurrent lower respiratory tract infections, Hypokalemia, Inability to walk, Hypocal...	OMIM:617913
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, Abnormality of the hypothalamus-pituitary axis, ...	ORPHA:251066
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Recurrent pharyngitis, My...	ORPHA:32960
Craniofacial Dyssynostosis With Short Stature	Brachycephaly, Brachyturricephaly, Short stature, Frontal bossing, Abnormal shape of the occiput	OMIM:218350
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Posterior uveitis, Weight loss, Abnormality...	ORPHA:52417
Pyruvate Dehydrogenase E1-Alpha Deficiency	Inability to walk, Increased serum pyruvate, Abnormal medullary pyramid morphology, Ataxia, Recur...	ORPHA:79243
Viss Syndrome	Chronic diarrhea, Coronary sinus enlargement, Microcephaly, Dysphagia, Mitral valve prolapse, Rig...	OMIM:619472
Erythrocytosis, Familial, 4	Elevated circulating erythropoietin concentration, Polycythemia, Increased circulating hemoglobin...	OMIM:611783
Familial Dysautonomia	Abnormality of the kidney, Glomerulopathy, Abnormal peritoneum morphology, Gait disturbance, Hypo...	ORPHA:1764
Yellow Nail Syndrome	Renal neoplasm, Hypoplasia of lymphatic vessels, Pleuritis, Neoplasm of the lung, Sinusitis, Rhin...	ORPHA:662
Primary Ciliary Dyskinesia	Chronic otitis media, Male infertility, Recurrent otitis media, Atelectasis, Pulmonary situs ambi...	ORPHA:244
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentrat...	OMIM:268200
Cirrhosis, Familial	Cirrhosis, Jaundice, Increased level of propylene glycol in blood, Fulminant hepatitis, Ascites, ...	OMIM:215600
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Emphysema, Tubulointerstitial fibrosis, Glycosuria, Lung adenocarcinoma...	OMIM:618913
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Hypoplasia of the corpus callosum, Secondary microcephaly, Thin corpus ...	OMIM:620423
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Niemann-Pick Disease, Type C1	Hepatomegaly, Low cholesterol esterification rate, Prolonged neonatal jaundice, Dysphagia, Fatal ...	OMIM:257220
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, T lymphocytopenia, Sinusitis, Failure to thrive, Bronchiectasis, Reduced natural kille...	OMIM:242860
Trichothiodystrophy 6, Nonphotosensitive	Broad-based gait, Small for gestational age, Increased HbA2 hemoglobin, Decreased mean corpuscula...	OMIM:616943
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia	ORPHA:88
Inflammatory Pseudotumor Of The Liver	Cirrhosis, Elevated circulating alanine aminotransferase concentration, Abnormal liver sonography...	ORPHA:90003
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Brachycephaly, Encephalocele, Coronal craniosynostosis, Frontal bossing, Intrauterine growth reta...	ORPHA:228390
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Obesity, Abnormality of the...	OMIM:194072
Gaucher Disease, Type Ii	Hepatomegaly, Anemia, Bronchiolitis, Failure to thrive, Recurrent aspiration pneumonia, Thrombocy...	OMIM:230900
Kennedy Disease	Abnormal circulating lipid concentration, Erectile dysfunction, Gait disturbance, Type II diabete...	ORPHA:481
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent...	ORPHA:77293
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Intrauterine growth retardation, Postnatal growth retardation, Brachycephaly	OMIM:615419
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypospadias, Renal insufficiency, Hyperuricemia, Uric acid nephrolithiasis, Urolithiasis, Ataxia,...	OMIM:300661
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas...	ORPHA:2364
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr...	OMIM:308750
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Gastroesophageal reflux, Abdominal pain, Diastasis recti, Campto...	ORPHA:2092
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Elevated circulating uroporphyrin concentratio...	OMIM:263700
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Microscopic hematuria, Elliptocytosis, Proteinuria, Patent ductus arteriosus, Ren...	ORPHA:86818
X-Linked Intellectual Disability, Sutherland-Haan Type	Short stature, Brachycephaly	ORPHA:93950
Cranioectodermal Dysplasia 2	Hepatomegaly, Portal fibrosis, Cholangitis, Elevated circulating hepatic transaminase concentrati...	OMIM:613610
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly	OMIM:618725
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Plagiocephaly, Short stature, Trigonocephaly, Decreased calvarial ossification, Craniosynostosis	OMIM:618265
Pulmonary Alveolar Microlithiasis	Pneumothorax, Hepatomegaly, Hematuria, Pleural thickening, Testicular microlithiasis, Bronchitis,...	ORPHA:60025
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Pulmonary pneumatocele, Recurrent otitis media, Sclerosing cholangitis, Cutaneous abscess, Atopic...	OMIM:243700
Erythrocytosis, Familial, 2	Increased red blood cell mass, Failure to thrive, Increased circulating hemoglobin concentration,...	OMIM:263400
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Abnormal pulmonary interstitial morphology, Decreased glomerular filtration rate, Focal segmental...	OMIM:614748
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Gastritis, B lymphocytopenia, Skin rash, T lymphocytopenia, Inflammation of the...	OMIM:618108
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Tetrasomy 12P	Cachexia	ORPHA:884
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Iron deficiency anemia, Precocious puberty with Sertoli cell tumor, Abn...	OMIM:175200
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Decreased HDL cholesterol concentration	ORPHA:79292
Chops Syndrome	Vesicoureteral reflux, Aspiration pneumonia, Anomalous pulmonary venous return, Obesity, Splenome...	OMIM:616368
Igg4-Related Submandibular Gland Disease	Abnormality of the kidney, Enlarged lacrimal glands, Prostatitis, Abnormal salivary gland morphol...	ORPHA:449432
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity, Splenomegaly, Recurre...	OMIM:252900
Gaucher Disease, Type I	Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia,...	OMIM:230800
Erythrocytosis, Familial, 5	Elevated circulating erythropoietin concentration, Polycythemia, Increased circulating hemoglobin...	OMIM:617907
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Recurrent otitis media, Impaired lymphocyte transformation with phyt...	OMIM:301000
African Trypanosomiasis	Urinary incontinence, Abnormality of the endocrine system, Optic neuritis, Impotence, Abnormal gr...	ORPHA:3385
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Hepatosplenomegaly, Hemophagocytosis, Weight loss	ORPHA:86884
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cirrhosis, Jaundice, Pancreatitis, Elevated circulating hepatic transa...	ORPHA:65682
Alport Syndrome 2, Autosomal Recessive	Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, Proteinuria, St...	OMIM:203780
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Panniculitis, Inflammatory abnormality of the eye, Splenomegaly, Weight loss	ORPHA:33577
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Lymphadenopathy, Conjunctivitis	OMIM:617772
Muenke Syndrome	Brachycephaly, Plagiocephaly, Cloverleaf skull, Short stature, Coronal craniosynostosis	OMIM:602849
Pneumocystosis	Chronic oral candidiasis, Abnormal neutrophil count, Acute infectious pneumonia, Pleural effusion...	ORPHA:723
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Decreased activ...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Decreased activ...	OMIM:233710
Eosinophilic Fasciitis	Myositis, Abnormal eosinophil morphology, Arthritis, Weight loss, Eosinophilia, Fasciitis	ORPHA:3165
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Pulmonary edema, Elevated circulating hepatic transaminase concentration, Hy...	ORPHA:542323
Cryptogenic Organizing Pneumonia	Pneumothorax, Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia, ...	ORPHA:1302
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Brachycephaly, Craniosynostosis, Turricephaly, Umbilical hernia	ORPHA:171839
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Decreased activ...	OMIM:233690
Non-Functioning Paraganglioma	Hematuria, Elevated urinary epinephrine level, Elevated urinary norepinephrine level, Paraganglio...	ORPHA:94080
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Chronic mucocutaneous candidia...	OMIM:618282
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Dolichocephaly, Prominent occiput	OMIM:618672
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Chronic otitis media, Cryptorchidism, Thrombocytopenia	ORPHA:261250
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin leve...	OMIM:241600
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Elevated circulating creatine kinase concentration, Renal cyst, Renal insufficiency	OMIM:611773
Seckel Syndrome 2	Microphthalmia, Heart murmur	OMIM:606744
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Pulmonary arterial hypertension	OMIM:300887
Hyperparathyroidism-Jaw Tumor Syndrome	Thyroid carcinoma, Elevated circulating parathyroid hormone level, Pancreatitis, Hypercalciuria, ...	ORPHA:99880
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenopathy, Atelectasis, Rectal abscess, Discoid lupus rash, De...	OMIM:306400
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Erythema nodosum, Skin rash, Posteri...	ORPHA:90340
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Recurrent upper and lower respiratory tract infections, Lymphadenopathy	OMIM:608106
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:608594
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Huntington Disease	Bradykinesia, Decreased body mass index, Difficulty walking, Gait imbalance, Inability to walk, A...	ORPHA:399
Polyarteritis Nodosa	Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Pleuritis, Peri...	ORPHA:767
Chromosome 3Q13.31 Deletion Syndrome	Brachycephaly, Plagiocephaly, Dolichocephaly	OMIM:615433
Polycythemia Vera	Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth...	ORPHA:729
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Oligohydramnios, Portal hypertension, Hepatic failure	OMIM:619431
Mucopolysaccharidosis Type 6	Chronic otitis media, Mucopolysacchariduria, Sinusitis, Failure to thrive, Splenomegaly, Recurren...	ORPHA:583
Pseudodiastrophic Dysplasia	Brachycephaly, Frontal bossing, Rhizomelia, Severe short stature	OMIM:264180
Variant Abeta2M Amyloidosis	Hepatic amyloidosis, Abnormal salivary gland morphology, Renal amyloidosis, Chronic kidney disease	ORPHA:314652
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci...	OMIM:265300
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Unilambdoid synostosis	OMIM:618577
Megabladder, Congenital	Multiple glomerular cysts, Fetal megacystis, Hyperechogenic kidneys, Patent ductus arteriosus, St...	OMIM:618719
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly	OMIM:618859
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ...	OMIM:615605
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Difficulty walking, Inability to walk, Abnormal circulating enzyme concentration or activity, Wad...	ORPHA:2590
Familial Glucocorticoid Deficiency	Renal salt wasting, Hyperkalemia, Azoospermia, Recurrent urinary tract infections, Decreased circ...	ORPHA:361
Multiple Benign Circumferential Skin Creases On Limbs	Edema, Congestive heart failure, Microphthalmia, Umbilical hernia	ORPHA:2505
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Timothy Syndrome	Pneumonia, Hypocalcemia, Bronchitis, Hypothyroidism, Patent ductus arteriosus, Cardiomegaly	OMIM:601005
Scedosporiosis	Pleuritis, Abnormal renal morphology, Bronchitis, Pleural empyema, Sinusitis, Pericarditis, Arthr...	ORPHA:449280
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Failure to thrive, Exocrine pancreatic ...	OMIM:617941
Nephrogenic Diabetes Insipidus	Hydroureter, Hyposthenuria, Enuresis nocturna, Nephrogenic diabetes insipidus, Functional abnorma...	ORPHA:223
Oculopharyngodistal Myopathy	Loss of ambulation, Difficulty walking, Recurrent aspiration pneumonia, Weight loss	ORPHA:98897
Pmm2-Cdg	Elevated circulating hepatic transaminase concentration, Reduced thyroxin-binding globulin, Peric...	ORPHA:79318
Proteus Syndrome	Abnormal lung lobation, Bronchogenic cyst, Enlarged kidney, Ovarian neoplasm, Pulmonary bulla, Lo...	ORPHA:744
Kimura Disease	Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Martin-Probst Syndrome	Pancytopenia, Hypoplastic nipples, Bifid scrotum, Hypothyroidism, Chordee, Proteinuria, Micropeni...	OMIM:300519
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Nephropathy, Pulmonary lymphangiectasia, Renal insufficiency	OMIM:247410
Hyperuricemia, Hprt-Related	Podagra, Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria	OMIM:300323
Dyskeratosis Congenita	Cirrhosis, Hepatomegaly, Cerebral calcification, Malabsorption, Telangiectasia of the skin, Recur...	ORPHA:1775
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff...	ORPHA:84085
Bardet-Biedl Syndrome 9	Obesity, Renal insufficiency, Irregular menstruation, Truncal obesity	OMIM:615986
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polycystic kidney dysplasia, Pulmonary hypoplasia, Ambiguous genitalia, Hepatic fibrosis, Pancrea...	OMIM:263520
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia...	OMIM:613090
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Arthralgia/arthritis, Weight loss, Insulin-resistant diabetes mell...	ORPHA:411593
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:609820
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Inability to walk, Diabete...	OMIM:225750
Cholera	Acute kidney injury, Hypokalemia, Hypocalcemia, Aspiration pneumonia, Hyponatremia, Abnormality o...	ORPHA:173
Nephrotic Syndrome, Type 21	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis...	OMIM:618594
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased response to growth hormone stimulation test, Recurrent otitis media, Recurrent pharyngi...	ORPHA:293978
Ochoa Syndrome	Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re...	ORPHA:2704
Pierpont Syndrome	Microphthalmia	OMIM:602342
Lymphoid Interstitial Pneumonia	Aortic valve stenosis, Cor pulmonale	OMIM:247610
Autosomal Dominant Keratitis	Bilateral microphthalmos, Corneal neovascularization, Aniridia, Hypoplastic iris stroma, Hypoplas...	ORPHA:2334
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Elevated circulatin...	ORPHA:368
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi...	ORPHA:90794
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Scheie Syndrome	Mucopolysacchariduria, Rhinitis, Hepatomegaly, Splenomegaly	ORPHA:93474
Pulmonary Non-Tuberculous Mycobacterial Infection	Pneumothorax, Lymphadenopathy, Pleural effusion, Weight loss, Bronchiectasis	ORPHA:411703
Undifferentiated Pleomorphic Sarcoma	Weight loss, Abnormal peritoneum morphology	ORPHA:2023
Urofacial Syndrome 2	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro...	OMIM:615112
Yao Syndrome	Pleuritis, Arthritis, Skin rash, Nephrolithiasis, Pericarditis, Inflammatory abnormality of the s...	OMIM:617321
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly	ORPHA:521390
Grant Syndrome	Short stature, Frontal bossing, Brachycephaly	ORPHA:2097
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Difficulty walking, Decreased glomerular filtration rate, Gait imbalance, Gait disturbance, Nephr...	ORPHA:488627
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina...	OMIM:610717
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Hennekam Syndrome	Lymphadenopathy, Ectopic kidney, Hypocalcemia, Chylothorax, Ascites, Erysipelas, Lymphangioma, Sp...	ORPHA:2136
Huntington Disease-Like 2	Gait disturbance, Weight loss	ORPHA:98934
Rh-Null, Regulator Type	Stomatocytosis, Hemolytic anemia	OMIM:268150
Congenital Disorder Of Glycosylation, Type Iiq	Small pituitary gland, Elevated circulating hepatic transaminase concentration, Decreased circula...	OMIM:617395
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone...	OMIM:143400
Pontocerebellar Hypoplasia, Type 3	Short stature, Brachycephaly	OMIM:608027
Trisomy 18	Cachexia, Abnormality of the upper urinary tract, Hydronephrosis, Cryptorchidism, Abnormal morpho...	ORPHA:3380
Lathosterolosis	Hepatomegaly, Intrahepatic cholestasis, Cerebral calcification, Microcephaly, Hepatic failure	ORPHA:46059
Lissencephaly 8	Occipital encephalocele, Microphthalmia	OMIM:617255
Leiomyomatosis, Diffuse, With Alport Syndrome	Hematuria, Nephropathy, Microscopic hematuria, Thickened glomerular basement membrane, Failure to...	OMIM:308940
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Pulmonary pneumatocele, Chronic mucocutaneous candidiasis, Recurrent upper respiratory tract infe...	OMIM:619752
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Skin rash, Splenomegaly, Infectious encephalitis	ORPHA:3386
Medullary cystic kidney disease 2	Hyperuricemia, Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cyst...	OMIM:603860
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Akinesia, Medullary nephrocalcinosis, Poikilocytosis, Acanthocytosis	OMIM:618947
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Intraalveolar phospholipid accumulation, Leukocytosis, Recurrent respiratory infect...	OMIM:618042
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Acute Lung Injury	Abnormal pulmonary interstitial morphology, Elevated circulating C-reactive protein concentration...	ORPHA:178320
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Limb ataxia, Truncal ataxia, Persistence of hemoglobin F, Broad-based gait	OMIM:617101
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Ascites, Weight loss	ORPHA:2198
Mednik Syndrome	Increased circulating very long-chain fatty acid concentration, Cirrhosis, Cholestasis, Neonatal ...	OMIM:609313
Monosomy 18P	Microphthalmia, Lymphedema, Hypertension	ORPHA:1598
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly	OMIM:619972
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, P...	OMIM:608233
Orofaciodigital Syndrome I	Polycystic kidney dysplasia, Ovarian cyst, Proteinuria, Hepatic cysts, Hepatic fibrosis, Pancreat...	OMIM:311200
Hartsfield Syndrome	Microphthalmia, Encephalocele	ORPHA:2117
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperkalemia, Female external genitalia in individual with 46,XY karyotype, Abnormal female exter...	ORPHA:90790
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Abnormal circulating enzyme concentration or activity, Vacuolated lym...	ORPHA:565612
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,...	ORPHA:100085
Combined Oxidative Phosphorylation Deficiency 51	Small for gestational age, Aspiration pneumonia	OMIM:619057
Kleefstra Syndrome	Chronic otitis media, Supernumerary nipple, Hypospadias, Hypoplasia of penis, Vesicoureteral refl...	ORPHA:261494
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Recurrent aspiration pneumonia, Ataxia	OMIM:619971
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Recurrent otitis media, Dermatan sulfate excretion in urine, Decreased iduronate su...	OMIM:309900
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Anoperineal fistula, Pancolitis, Leukocytosis, Eosinophilic infiltration of the...	OMIM:618213
Caudal Regression Syndrome	Ureteral duplication, Maternal diabetes, Ectopic kidney, Vesicoureteral reflux, Abnormality of th...	ORPHA:3027
Rett Syndrome	Truncal ataxia, Cachexia, Gait apraxia, Gait ataxia	OMIM:312750
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Recurrent upper respiratory tract...	OMIM:252930
Summitt Syndrome	Plagiocephaly, Craniosynostosis	ORPHA:3210
Clark-Baraitser Syndrome	Brachycephaly, Dolichocephaly	OMIM:617752
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Abnormality of the female genitalia, Hematuria, Recurrent respiratory infections, Aspiration pneu...	ORPHA:1018
Cooper-Jabs Syndrome	Short stature, Frontal bossing, Brachycephaly, Umbilical hernia	ORPHA:1488
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Thymic hormone decreased, Gait disturbance, Failure to thrive,...	OMIM:216400
Papillorenal Syndrome	Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Vesicoureteral reflux...	OMIM:120330
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Granulocytopenia, Macrocytic anemia	OMIM:606164
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Plagiocephaly	OMIM:607313
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Hyperzincemia With Functional Zinc Depletion	Skin rash, Hepatomegaly, Increased serum zinc	OMIM:601979
Bardet-Biedl Syndrome 8	Brachycephaly	OMIM:615985
Primary Fanconi Renotubular Syndrome	Generalized aminoaciduria, Abnormal urine pH, Bicarbonate-wasting renal tubular acidosis, Hypopho...	ORPHA:3337
Erythrokeratodermia Variabilis	Skin rash, Diabetes mellitus, Abnormal testis morphology, Weight loss	ORPHA:317
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Hepatomegaly, Patent ductus arteriosus, Gait disturbance, Failure to thri...	OMIM:230600
Infantile Krabbe Disease	Cachexia, Failure to thrive, Abnormal circulating enzyme concentration or activity	ORPHA:206436
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Renal insufficiency, Hypocalcemia, Hypothyroidism, Nephropathy	ORPHA:1563
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Slender build, Weight loss, Elevated c...	OMIM:603041
Erythrocytosis, Familial, 7	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617981
Erythrocytosis, Familial, 6	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617980
Isolated Succinate-Coq Reductase Deficiency	Vesicoureteral reflux, Loss of ambulation, Ataxia, Weight loss, Left ventricular hypertrophy	ORPHA:3208
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria	OMIM:160010
Achard Syndrome	Brachycephaly, Broad skull	OMIM:100700
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Brachycephaly, Plagiocephaly, Short stature, Frontal bossing, Dolichocephaly	OMIM:619721
Familial Pancreatic Carcinoma	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Peritoneal ab...	ORPHA:1333
Band Heterotopia	Plagiocephaly	OMIM:600348
Cockayne Syndrome Type 3	Hepatomegaly, Hydroureter, Unilateral renal agenesis, Elevated circulating hepatic transaminase c...	ORPHA:90324
Proteinuria, Chronic Benign	Renal insufficiency, Proteinuria, Albuminuria	OMIM:618884
Hepatoerythropoietic Porphyria	Red urine, Abnormal circulating enzyme concentration or activity, Purple urine, Red-brown urine, ...	ORPHA:95159
Acute Intermittent Porphyria	Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Increased urinary porphobilinog...	ORPHA:79276
Hereditary Hemorrhagic Telangiectasia	Tongue telangiectasia, Gastrointestinal hemorrhage, Nasal mucosa telangiectasia, Epistaxis, Chole...	ORPHA:774
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Aspiration pneumonia, Neonatal death, Ataxia, Left ventricular hypertrophy, Ketonur...	OMIM:619167
Adrenocortical Carcinoma	Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Hypokalemia...	ORPHA:1501
Camptodactyly Syndrome, Guadalajara Type 1	Intrauterine growth retardation, Brachycephaly, Short stature, Spina bifida	ORPHA:1327
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Brachycephaly, Plagiocephaly	OMIM:618603
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:613327
Cornelia De Lange Syndrome 1	Pneumonia, Ectopic kidney, Hypospadias, Abnormal renal morphology, Hypoplastic male external geni...	OMIM:122470
Pancreatic Colipase Deficiency	Megaloblastic anemia, Exocrine pancreatic insufficiency, Cholelithiasis	ORPHA:309108
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia, Inability to walk, High nonceruloplasmin-bound serum copper	ORPHA:457351
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypoparathyroidism, Unilateral renal agenesis, Hypocalcemia, Polycystic ki...	ORPHA:2237
Intellectual Developmental Disorder, Autosomal Dominant 48	Intrauterine growth retardation, Plagiocephaly, Umbilical hernia	OMIM:617751
Mednik Syndrome	Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin...	ORPHA:171851
Choreoacanthocytosis	Bradykinesia, Hepatomegaly, Hair-pulling, Falls, Arthritis, Abnormal erythrocyte enzyme concentra...	ORPHA:2388
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Flat occiput, Severe short stature, Brachycephaly	ORPHA:2511
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Short stature, Plagiocephaly, Brachycephaly	OMIM:618862
D-Bifunctional Protein Deficiency	Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Elevated circulatin...	OMIM:261515
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Craniofrontonasal Dysplasia	Brachycephaly, Craniosynostosis, Frontal bossing, Plagiocephaly	ORPHA:1520
Niemann-Pick Disease Type C	Cerebral atrophy, Hypoplasia of the corpus callosum, Jaundice, Hepatomegaly, Hydrops fetalis, Fro...	ORPHA:646
Cystic Fibrosis	Cirrhosis, Hepatomegaly, Pancreatitis, Male infertility, Hypercalciuria, Biliary cirrhosis, Recur...	OMIM:219700
Severe Acute Respiratory Syndrome	Acute infectious pneumonia, Acute kidney injury, Diabetes mellitus	ORPHA:140896
Hurler-Scheie Syndrome	Hepatomegaly, Dermatan sulfate excretion in urine, Splenomegaly, Recurrent respiratory infections...	OMIM:607015
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Brachycephaly, Biparietal narrowing, Short stature, Frontal bossing, Umbilical hernia, Intrauteri...	ORPHA:1292
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocytic anemia, Lymphopeni...	OMIM:250250
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Lymphad...	OMIM:605258
Lamellar Ichthyosis	Chronic otitis media, Recurrent respiratory infections, Renal insufficiency, Erythroderma	ORPHA:313
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly	ORPHA:94066
Osteopetrosis, Autosomal Recessive 7	Hypocalcemic seizures, Hepatomegaly, Anemia, Recurrent pneumonia, Splenomegaly	OMIM:612301
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Bartter Syndrome Type 4	Renal salt wasting, Acute kidney injury, Severe failure to thrive, Hyperprostaglandinuria, Hypoka...	ORPHA:89938
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections, Inability to walk	ORPHA:596
Juvenile Huntington Disease	Bradykinesia, Progressive cerebellar ataxia, Broad-based gait, Gait ataxia, Ataxia, Weight loss	ORPHA:248111
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hepatic cysts, Renal insufficiency, Polycystic kidney dysplasia	OMIM:173900
Developmental And Epileptic Encephalopathy 1	Growth delay, Plagiocephaly	OMIM:308350
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Decreased circulating nicotinamide adenine dinucleotide-cytochrome b5 reductase activity, Polycyt...	OMIM:250800
Arteriosclerosis, Severe Juvenile	Delayed puberty, Anemia, Chronic kidney disease	OMIM:208060
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Agel Amyloidosis	Abnormal spleen morphology, Respiratory tract infection, Proteinuria, Ataxia, Stage 5 chronic kid...	ORPHA:85448
Sifrim-Hitz-Weiss Syndrome	Gait imbalance, Renal insufficiency, Vesicoureteral reflux, Patent ductus arteriosus, Ambiguous g...	OMIM:617159
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Failu...	OMIM:191800
Cutis Laxa, Autosomal Recessive, Type Iiia	Brachycephaly, Short stature, Frontal bossing, Umbilical hernia, Intrauterine growth retardation	OMIM:219150
Hydrolethalus	Microphthalmia, Polyhydramnios, Anencephaly, Anophthalmia	ORPHA:2189
Rhyns Syndrome	Decreased response to growth hormone stimulation test, Nephronophthisis, Anterior hypopituitarism...	OMIM:602152
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Neoplasm of the lung, Pr...	ORPHA:1332
Intellectual Developmental Disorder, Autosomal Dominant 67	Posterior plagiocephaly	OMIM:619927
Lymphedema-Distichiasis Syndrome	Microphthalmia, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops f...	OMIM:153400
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated circulating hepatic transaminase concentration, Hypospadias, Supernumerary nipple, Renal...	ORPHA:397715
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Chronic rhinitis, Pulmonary artery stenosis,...	ORPHA:667
Gomez-Lopez-Hernandez Syndrome	Brachycephaly, Turricephaly, Short stature, Craniosynostosis, Skull asymmetry	OMIM:601853
Cornelia De Lange Syndrome 5	Short stature, Postnatal growth retardation, Brachycephaly	OMIM:300882
Fetal Trimethadione Syndrome	Intrauterine growth retardation, Brachycephaly	ORPHA:1913
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at...	ORPHA:52901
Neurogenic Arthrogryposis Multiplex Congenita	Plagiocephaly, Scaphocephaly	ORPHA:1143
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Renal hypoplasia, Patent ductus arteriosus, Unilateral renal agenesis, Chronic kidney disease	OMIM:617661
Crouzon Syndrome	Brachycephaly, Frontal bossing, Turricephaly, Multiple suture craniosynostosis	ORPHA:207
6Q25 Microdeletion Syndrome	Short stature, Plagiocephaly	ORPHA:251056
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Renal cyst, Hydronephrosis, Neonatal death, Stage 5 chronic kidney d...	OMIM:613390
17Q12 Microdeletion Syndrome	Renal hypoplasia/aplasia, Elevated circulating hepatic transaminase concentration, Renal insuffic...	ORPHA:261265
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Hypercalciuria, Recurrent urinary tract infections, Nephrolithiasis, Hypermagnesiuria, Renal calc...	OMIM:248190
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Nephritis, Glomerular bas...	OMIM:609057
Coffin-Siris Syndrome 6	Short stature, Frontal bossing, Plagiocephaly	OMIM:617808
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri...	OMIM:212093
Bloom Syndrome	Decreased fertility in females, Azoospermia, Malar rash, Elevated hemoglobin A1c, Type II diabete...	OMIM:210900
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration	OMIM:313200
Cataract-Intellectual Disability-Hypogonadism Syndrome	Short stature, Brachycephaly	ORPHA:1387
Pachydermoperiostosis	Hepatomegaly, Anemia, Seborrheic dermatitis, Arthritis, Neoplasm of the lung, Eczematoid dermatit...	ORPHA:2796
Mucoepithelial Dysplasia, Hereditary	Hematuria, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Recurrent pneumonia, Pneumoni...	OMIM:158310
Interstitial Pneumonitis, Desquamative, Familial	Cor pulmonale, Recurrent upper respiratory tract infections	OMIM:263000
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachycephaly, Frontal bossing, Turricephaly	ORPHA:93262
2Q32Q33 Microdeletion Syndrome	Short stature, Brachycephaly, Growth delay	ORPHA:251019
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Brachycephaly	ORPHA:352530
Huppke-Brendel Syndrome	Inability to walk, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe...	OMIM:614482
Fucosidosis	Spastic gait, Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Failure to thrive, Splenomeg...	OMIM:230000
Rhizomelic Limb Shortening With Dysmorphic Features	Plagiocephaly, Rhizomelia	OMIM:618821
Cockayne Syndrome B	Hepatomegaly, Severe failure to thrive, Renal insufficiency, Failure to thrive, Ataxia, Proteinur...	OMIM:133540
Lessel-Kreienkamp Syndrome	Frontal bossing, Plagiocephaly, Scaphocephaly	OMIM:619149
Hypomagnesemia 2, Renal	Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting	OMIM:154020
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Dehydration	OMIM:214150
Chopra-Amiel-Gordon Syndrome	Short stature, Postnatal growth retardation, Brachycephaly	OMIM:619504
Familial Tumoral Calcinosis	Skin rash, Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Hermansky-Pudlak Syndrome	Weight loss, Pulmonary fibrosis, Menometrorrhagia, Renal insufficiency, Neutropenia	ORPHA:79430
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia	ORPHA:90647
8Q12 Microduplication Syndrome	Brachycephaly	ORPHA:228399
Liddle Syndrome 1	Decreased circulating renin level, Decreased circulating aldosterone level, Renal insufficiency, ...	OMIM:177200
Congenital Fibrinogen Deficiency	Tachycardia, Microphthalmia, Internal hemorrhage	ORPHA:335
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Hyperoxaluria, Primary, Type Ii	Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Renal insufficiency,...	OMIM:260000
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Splenomegaly, Multiple renal cysts, Cardiomegaly, Abnormal...	ORPHA:116
Congenital Heart Defects And Ectodermal Dysplasia	Brachycephaly, Frontal bossing	OMIM:617364
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Tricuspid regurgitation	OMIM:618652
Pulmonary Arteriovenous Malformation	Liver abscess, Iron deficiency anemia, Bacterial endocarditis, Pleural empyema, Pulmonary hemorrh...	ORPHA:2038
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Short stature, Plagiocephaly, Brachycephaly, Umbilical hernia	ORPHA:369891
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Arrhythmia	ORPHA:3191
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Meckel Syndrome, Type 5	Occipital encephalocele, Microphthalmia, Anencephaly	OMIM:611561
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Plagiocephaly	OMIM:614563
Gm1 Gangliosidosis Type 1	Increased urinary galactosylated oligosaccharide, Aspiration pneumonia, Hepatosplenomegaly, Decre...	ORPHA:79255
Igg4-Related Ophthalmic Disease	Abnormality of the kidney, Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Lymp...	ORPHA:449563
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Unilateral renal dysplasia, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the ...	OMIM:146255
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Elevated circulating carcinoembryonic antigen concent...	ORPHA:264675
Developmental And Epileptic Encephalopathy 65	Plagiocephaly	OMIM:618008
Renal Coloboma Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins...	ORPHA:1475
Focal Myositis	Myositis, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
German Syndrome	Short stature, Dolichocephaly, Brachycephaly	ORPHA:2077
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Mucopolysaccharidosis Type 3	Chronic otitis media, Hepatomegaly, Recurrent tonsillitis, Aspiration pneumonia, Gait disturbance...	ORPHA:581
Hyperferritinemia With Or Without Cataract	Decreased transferrin saturation, Increased circulating ferritin concentration, Abnormal circulat...	OMIM:600886
Reynolds Syndrome	Calcinosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:613471
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Pulmonic stenosis, Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
Recombinant Chromosome 8 Syndrome	Growth delay, Postnatal growth retardation, Brachycephaly	OMIM:179613
Bannayan-Riley-Ruvalcaba Syndrome	Thyroid carcinoma, Cachexia, Neoplasm of the adrenal cortex, Hashimoto thyroiditis, Uterine neoplasm	ORPHA:109
Niemann-Pick Disease, Type C2	Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Houge-Janssens Syndrome 3	Frontal bossing, Plagiocephaly, Umbilical hernia	OMIM:618354
Adams-Oliver Syndrome 2	Microphthalmia, Oligohydramnios	OMIM:614219
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Dyspareunia, Pulmonary fibrosis, Oliguria, Renal insufficiency	ORPHA:220393
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Galloway-Mowat Syndrome 10	Congenital hypothyroidism, Podocyte foot process effacement, Proteinuria, Diffuse mesangial scler...	OMIM:619609
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Vesicoureteral reflux, Abnormal testis morphology, Failure to thrive, Obesit...	ORPHA:96147
Meige Disease	Pleural effusion, Recurrent bacterial skin infections, Lymph node hypoplasia, Recurrent skin infe...	ORPHA:90186
Secondary Short Bowel Syndrome	Primary hypothyroidism, Cholestasis, Central hypothyroidism, Failure to thrive, Enterocolitis, We...	ORPHA:95427
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Keratoconjunctivitis sicca, Lymphad...	ORPHA:79078
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Menorrhagia, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemo...	OMIM:153670
Tropical Endomyocardial Fibrosis	Hepatomegaly, Cachexia, Ascites, Hypoalbuminemia, Splenomegaly, Cardiomegaly, Eosinophilia	ORPHA:75565
Mercury Poisoning	Acute kidney injury, Interstitial pneumonitis, Hypokalemia	ORPHA:330021
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Trisomy 13	Aplasia/Hypoplasia of the iris, Microphthalmia, Hydrops fetalis, Anophthalmia	ORPHA:3378
Cystinuria	Hyperuricemia, Hematuria, Nephrolithiasis, Renal insufficiency	ORPHA:214
Nocardiosis	Pneumothorax, Scleritis, Abnormality of the adrenal glands, Liver abscess, Emphysema, Pleuritis, ...	ORPHA:31204
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Brachycephaly, Frontal bossing, Plagiocephaly	OMIM:616789
Vitreoretinochoroidopathy	Vitreous hemorrhage, Microphthalmia, Retinal neovascularization	OMIM:193220
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Abnormal circulating enzyme concentration or activity, Recurrent urinary tract infe...	ORPHA:309282
Intellectual Developmental Disorder, Autosomal Recessive 38	Plagiocephaly	OMIM:615516
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Intrauterine growth retardation, Brachycephaly	OMIM:618142
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, Thrombocytosis	ORPHA:71493
Distal Limb Deficiencies-Micrognathia Syndrome	Renal hypoplasia, Cryptorchidism, Renal insufficiency, Proteinuria	ORPHA:1307
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Hand-Foot-Genital Syndrome	Hypospadias, Longitudinal vaginal septum, Renal insufficiency, Vesicoureteral reflux, Bifid scrot...	OMIM:140000
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Vulto-Van Silfhout-De Vries Syndrome	Brachycephaly, Frontal bossing	OMIM:615828
Histiocytoid Cardiomyopathy	Pulmonary edema, Microphthalmia, Wolff-Parkinson-White syndrome, Atrial flutter, Congestive heart...	ORPHA:137675
Even-Plus Syndrome	Brachycephaly, Severe short stature	OMIM:616854
Slc39A8-Cdg	Hypomanganesemia, Inability to walk, Abnormal blood zinc concentration, Abnormality of the liver,...	ORPHA:468699
Multiple Sulfatase Deficiency	Mucopolysacchariduria, Hepatomegaly, Ataxia, Splenomegaly	OMIM:272200
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Plagiocephaly	ORPHA:77300
Cranioectodermal Dysplasia 4	Bone marrow hypocellularity, Stage 5 chronic kidney disease, Recurrent pneumonia	OMIM:614378
Revesz Syndrome	Aplastic anemia, Macrocytic anemia, Broad-based gait, Bone marrow hypocellularity, Ataxia, Neutro...	OMIM:268130
Bresek Syndrome	Intrauterine growth retardation, Plagiocephaly, Growth delay	ORPHA:85284
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Oligohydramnios, Increased nuchal translucency	OMIM:618494
Cushing Syndrome Due To Ectopic Acth Secretion	Decreased eosinophil count, Pheochromocytoma, Increased body weight, Adrenal hyperplasia, Pulmona...	ORPHA:99889
Gray Platelet Syndrome	Menorrhagia, Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Roifman-Chitayat Syndrome	Pneumonia, Arthritis, Ectopic kidney	OMIM:613328
2Q23.1 Microdeletion Syndrome	Short stature, Brachycephaly, Growth delay	ORPHA:228402
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Premature ovarian insufficiency, Recurrent otitis media, B lymphocyt...	OMIM:251260
Tuberous Sclerosis Complex	Abnormality of the kidney, Pancreatic endocrine tumor, Polycystic kidney dysplasia, Pheochromocyt...	ORPHA:805
Immunodeficiency 12	Cheilitis, Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Skin rash...	OMIM:615468
Congenital Multicore Myopathy With External Ophthalmoplegia	Small scrotum, Pneumonia, Recurrent respiratory infections, Cryptorchidism, Micropenis	ORPHA:98905
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased proportion of class-switched memory B cells, Bronchiolitis, Enterocolitis, Recurrent si...	OMIM:614878
Menkes Disease	Intrauterine growth retardation, Brachycephaly, Short stature	OMIM:309400
Cerebellar Ataxia-Hypogonadism Syndrome	Short stature, Brachycephaly	ORPHA:1173
Anaplastic Thyroid Carcinoma	Lymphadenopathy, Anaplastic thyroid carcinoma, Neoplasm of the lung, Nodular goiter, Weight loss,...	ORPHA:142
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Plagiocephaly	OMIM:617481
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Reduced leukocyte arylsulfatase B activity, Dermatan sulfate excretion in urine, Sp...	OMIM:253200
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Peritoneal Cystic Mesothelioma	Dyspareunia, Menorrhagia, Weight loss, Peritonitis, Metrorrhagia	ORPHA:168816
Alkaptonuria	Prostatitis, Black pigment gallstones, Arthritis, Nephrolithiasis, Hypothyroidism, Dark urine, Os...	ORPHA:56
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia, Skin rash, Ataxia	ORPHA:220295
Desanto-Shinawi Syndrome	Brachycephaly	OMIM:616708
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy, Weight loss	ORPHA:2221
Holoprosencephaly-Craniosynostosis Syndrome	Short stature, Craniosynostosis, Brachycephaly, Plagiocephaly	ORPHA:2163
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ...	OMIM:617641
Ritscher-Schinzel Syndrome 1	Intrauterine growth retardation, Brachycephaly, Prominent occiput	OMIM:220210
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Intrauterine growth retardation, Flat occiput, Brachycephaly, Short stature	OMIM:617452
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Choreoathetosis, Renal insufficiency, Proteinuria	ORPHA:2715
Granulomatosis With Polyangiitis	Chronic otitis media, Pleuritis, Localized pulmonary hemorrhage, Episcleritis, Sinusitis, Elevate...	OMIM:608710
Nephronophthisis-Like Nephropathy 1	Nephronophthisis, Chronic pancreatitis, Tubular basement membrane disintegration, Renal tubular a...	OMIM:613159
Irida Syndrome	Intrahepatic cholestasis, Decreased circulating copper concentration	ORPHA:209981
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Unilateral renal agenesis, B lymphocytopenia, Recurrent urinary tract i...	ORPHA:221139
Nail-Patella Syndrome	Tip-toe gait, Abnormality of the kidney, Hematuria, Arthritis, Nephrotic syndrome, Thickened glom...	ORPHA:2614
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Short stature, Plagiocephaly	OMIM:618089
Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:803
Intellectual Developmental Disorder, Autosomal Dominant 23	Brachycephaly	OMIM:615761
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ...	OMIM:238600
Grfoma	Neoplasm of the pancreas, Pheochromocytoma, Ascites, Pituitary adenoma, Parathyroid adenoma, Incr...	ORPHA:97261
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Elevated alkaline phosphatase of hepatic origin, Intermittent jaundice...	ORPHA:100086
Aica-Ribosiduria	Brachycephaly	ORPHA:250977
Tangier Disease	Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, H...	ORPHA:31150
Primary Hyperoxaluria	Hematuria, Aciduria, Elevated circulating hepatic transaminase concentration, Calcium oxalate nep...	ORPHA:416
Gracile Bone Dysplasia	Microphthalmia, Ascites, Aniridia	OMIM:602361
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Second...	ORPHA:280365
Cryoglobulinemia, Familial Mixed	Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c...	OMIM:123550
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Inability to walk, General...	ORPHA:404454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Plagiocephaly, Umbilical hernia	ORPHA:500159
Joubert Syndrome 7	Stage 5 chronic kidney disease, Nephronophthisis, Ataxia, Renal cyst	OMIM:611560
Muenke Syndrome	Coronal craniosynostosis, Plagiocephaly, Brachycephaly	ORPHA:53271
Primary Hyperoxaluria Type 2	Hyperoxaluria, Recurrent urinary tract infections, Nephrolithiasis, Ureteral obstruction, Nephroc...	ORPHA:93599
Spinocerebellar Ataxia 32	Infertility, Ataxia, Testicular atrophy, Azoospermia	OMIM:613909
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Salmonella osteomyelitis, Lymphadenitis	ORPHA:319552
Osteopathia Striata-Cranial Sclerosis Syndrome	Brachycephaly, Spina bifida occulta, Frontal bossing, Facial hyperostosis, Severe short stature, ...	ORPHA:2780
Joubert Syndrome With Renal Defect	Nephropathy, Gait disturbance, Abnormality of the hypothalamus-pituitary axis, Ataxia, Renal insu...	ORPHA:220497
Multiple Endocrine Neoplasia Type 1	Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone ...	ORPHA:652
Blue Rubber Bleb Nevus	Abnormality of the liver, Thrombocytopenia, Iron deficiency anemia	OMIM:112200
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Cranial asymmetry	ORPHA:137634
Joubert Syndrome 2	Nephronophthisis, Hypoplastic male external genitalia, Renal cyst, Failure to thrive, Ataxia, Ren...	OMIM:608091
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Abnormal circulating copper concentration, Steppage gait	ORPHA:521411
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microphthalmia, Occipital encephalocele, Cardiomyopathy	ORPHA:370959
X-Linked Intellectual Disability, Wilson Type	Growth delay, Brachycephaly	ORPHA:85290
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Plagiocephaly	OMIM:618731
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Bifid scrotum, Splenomegaly, Small scrotum, Septate vagina, Hypocholes...	OMIM:270400
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Weight loss...	ORPHA:79127
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Pulmonary capillary hemangiomatosis, Neoplasm of the pancreas, Pheochromocyto...	OMIM:193300
Helix Syndrome	Polyuria, Hypermagnesemia, Hypokalemia, Hypocalciuria, Nephrolithiasis, Renal insufficiency, Hype...	OMIM:617671
Frontonasal Dysplasia 2	Brachycephaly, Encephalocele, Parietal foramina, Anterior plagiocephaly, Intrauterine growth reta...	OMIM:613451
Huntington Disease-Like 2	Bradykinesia, Weight loss	OMIM:606438
Paternal Uniparental Disomy Of Chromosome 5	Posterior plagiocephaly, Rhizomelic arm shortening	ORPHA:96190
Bronchogenic Cyst	Bronchogenic cyst, Atelectasis, Abnormal peritoneum morphology, Abnormal pleura morphology, Pneum...	ORPHA:2357
Temtamy Syndrome	Microphthalmia, Aortic regurgitation	OMIM:218340
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Prune1-Related Neurological Syndrome	Plagiocephaly	ORPHA:544469
Al Kaissi Syndrome	Intrauterine growth retardation, Postnatal growth retardation, Short stature, Brachycephaly	OMIM:617694
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Intrauterine growth retardation, Flat occiput, Brachycephaly, Short stature	ORPHA:505237
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia, Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricula...	OMIM:300952
Chromosome 5P13 Duplication Syndrome	Brachycephaly, Craniosynostosis, Turricephaly, Frontal bossing	OMIM:613174
Meckel Syndrome, Type 2	Microphthalmia, Anencephaly, Encephalocele, Meningocele	OMIM:603194
Immunoglobulin A Vasculitis	Glomerulopathy, Hematuria, Arthritis, Skin rash, Episcleritis, Pustule, Proteinuria, Orchitis, Re...	ORPHA:761
Gorlin-Chaudhry-Moss Syndrome	Short stature, Coronal craniosynostosis, Brachycephaly, Umbilical hernia	ORPHA:2095
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Thrombocytopenia, Lymphopenia, Interstitial pneumonitis, Gr...	ORPHA:454831
Spinocerebellar Ataxia Type 32	Male infertility, Progressive cerebellar ataxia, Testicular atrophy, Azoospermia	ORPHA:276183
Larsen-Like Syndrome	Short stature, Frontal bossing, Brachycephaly	OMIM:608545
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Brachycephaly, Short stature, Trigonocephaly, Sagittal craniosynostosis, Scaphocephaly	ORPHA:459061
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Richieri-Costa/Guion-Almeida Syndrome	Short stature, Brachycephaly, Spina bifida occulta	OMIM:268850
Xq28 (MECP2) duplication	Brachycephaly	DECIPHER:45
Classic Pantothenate Kinase-Associated Neurodegeneration	Tip-toe gait, Inability to walk, Gait disturbance, Aspiration pneumonia, Weight loss	ORPHA:216866
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Brachycephaly, Frontal bossing	OMIM:615539
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Reduced pancreatic beta cells, Type I diabetes mellitus, Renal insufficiency, Insul...	OMIM:226980
Kleefstra Syndrome Due To A Point Mutation	Short stature, Plagiocephaly, Brachycephaly, Umbilical hernia	ORPHA:261652
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Brachycephaly, Frontal bossing, Plagiocephaly	OMIM:618430
Aneurysm Of Sinus Of Valsalva	Edema, Congestive heart failure, Aortic regurgitation, Heart murmur	ORPHA:1054
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Immunodeficiency 58	Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous...	OMIM:618131
Distal Deletion 10Q	Acute kidney injury, Vesicoureteral reflux, Enuresis, Functional abnormality of the bladder, Fail...	ORPHA:96148
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Hypoplasia of the ovary, Leukocytosis, Decreased testicular size, Renal hypoplasia, Mic...	OMIM:619321
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypertension, Retinal hemorrhage, Hypoplasia of t...	OMIM:609049
Bardet-Biedl Syndrome 17	Polyuria, Renal cyst, Obesity, Hypogonadism, Stage 5 chronic kidney disease, Micropenis	OMIM:615994
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Thymic Carcinoma	Mediastinal lymphadenopathy, Neoplasm of the thymus, Weight loss	ORPHA:99868
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Renal Agenesis	Absent vas deferens, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral rena...	ORPHA:411709
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Joubert Syndrome With Oculorenal Defect	Abnormality of the hypothalamus-pituitary axis, Renal insufficiency, Ataxia, Nephropathy	ORPHA:2318
Zollinger-Ellison Syndrome	Pituitary growth hormone cell adenoma, Pituitary corticotropic cell adenoma, Pituitary adenoma, H...	ORPHA:913
Scorpion Envenomation	Myocarditis, Acute kidney injury, Pulmonary edema, Increased circulating NT-proBNP concentration,...	ORPHA:466677
Loeffler Endocarditis	Eosinophilia, Weight loss, Pericarditis, Left ventricular hypertrophy	ORPHA:75566
Juvenile Neuronal Ceroid Lipofuscinosis	Loss of ambulation, Aspiration pneumonia, Abnormal circulating enzyme concentration or activity	ORPHA:79264
Inverted Duplicated Chromosome 15 Syndrome	Growth delay, Brachycephaly	ORPHA:3306
Williams Syndrome	Abnormal circulating lipid concentration, Chronic otitis media, Hypoplasia of penis, Nephrocalcin...	ORPHA:904
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis, Ataxia	OMIM:608629
Joubert Syndrome 14	Microphthalmia, Encephalocele, Meningocele, Hypertension, Intracranial hemorrhage	OMIM:614424
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100080
Bor Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst...	ORPHA:107
Pde4D Haploinsufficiency Syndrome	Postnatal growth retardation, Brachycephaly, Frontal bossing, Intrauterine growth retardation, Th...	ORPHA:439822
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Amyloidosis, Finnish Type	Nephrotic syndrome, Urolithiasis, Renal glomerular amyloid deposition, Stage 5 chronic kidney dis...	OMIM:105120
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Anterior plagiocephaly, Frontal bossing, Brachycephaly	ORPHA:163649
Kury-Isidor Syndrome	Growth delay, Frontal bossing, Brachycephaly	OMIM:619762
Occipital Horn Syndrome	Jaundice, Recurrent urinary tract infections, Cholestasis, Esophagitis, Bladder diverticulum, Hep...	ORPHA:198
Myoclonic Epilepsy Of Lafora 1	Lafora bodies, Hepatic failure	OMIM:254780
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Melkersson-Rosenthal Syndrome	Cheilitis, Oligosacchariduria, Inflammatory abnormality of the skin, Lymphadenopathy	ORPHA:2483
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Brachycephaly	OMIM:620240
Zinc Deficiency, Transient Neonatal	Eczematoid dermatitis, Decreased serum zinc	OMIM:608118
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal neovascularization	OMIM:305390
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Cryptorchidism, External genital hypoplasia, Decreased testicular size	ORPHA:1867
Lymphangioleiomyomatosis	Pneumothorax, Renal neoplasm, Hematuria, Lymphadenopathy, Emphysema, Atelectasis, Chylothorax, Re...	ORPHA:538
Malan Overgrowth Syndrome	Frontal bossing, Plagiocephaly, Scaphocephaly	ORPHA:420179
Robinow-Sorauf Syndrome	Plagiocephaly, Pansynostosis, Craniosynostosis	OMIM:180750
Intellectual Developmental Disorder, Autosomal Dominant 66	Brachycephaly, Plagiocephaly	OMIM:619910
Cystic Fibrosis	Pneumothorax, Absent vas deferens, Cirrhosis, Decreased body mass index, Elevated circulating hep...	ORPHA:586
22Q11.2 Deletion Syndrome	Chronic otitis media, Seborrheic dermatitis, Splenomegaly, Multiple renal cysts, Hypospadias, Hyp...	ORPHA:567
Huntington Disease-Like 1	Bradykinesia, Gait disturbance, Gait ataxia, Weight loss, Dysmetria	ORPHA:157941
Bronchiolitis Obliterans	Bronchiectasis, Pneumonia, Respiratory tract infection, Bronchiolitis obliterans	ORPHA:1303
Mesomelic Dysplasia, Nievergelt Type	Brachycephaly, Dolichocephaly, Mesomelic short stature	ORPHA:2633
Mounier-Kühn Syndrome	Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections	ORPHA:3347
Chromosome 2Q37 Deletion Syndrome	Short stature, Brachycephaly	OMIM:600430
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly	OMIM:616083
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Recurrent aphthous stomatitis, Lymphadenopathy, Arthritis, Ataxia, Peritonitis	ORPHA:343
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Smith-Magenis Syndrome	Short stature, Brachycephaly	OMIM:182290
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Williams-Beuren Region Duplication Syndrome	Short stature, Brachycephaly	OMIM:609757
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Brachycephaly	OMIM:300958
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Mycosis Fungoides	Psoriasiform dermatitis, Lymphadenopathy, Eczematoid dermatitis	OMIM:254400
Meckel Syndrome, Type 1	Ambiguous genitalia, male, External genital hypoplasia, Accessory spleen, Polycystic kidney dyspl...	OMIM:249000
Chronic Graft Versus Host Disease	Pneumothorax, Hematuria, Keratoconjunctivitis sicca, Elevated circulating hepatic transaminase co...	ORPHA:99921
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Hypercholesterolemia, Elevated circulating crea...	OMIM:309000
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta	OMIM:169550
Osteogenesis Imperfecta, Type Xx	Intrauterine growth retardation, Plagiocephaly, Brachycephaly, Disproportionate short-limb short ...	OMIM:618644
Crouzon Syndrome	Brachycephaly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Frontal bossing, Sagittal c...	OMIM:123500
Hennekam-Beemer Syndrome	Pneumonia, Failure to thrive, Mastocytosis	ORPHA:2135
Cdags Syndrome	Brachycephaly, Lambdoidal craniosynostosis, Parietal foramina, Coronal craniosynostosis, Frontal ...	OMIM:603116
Complement Factor B Deficiency	Pneumonia, Peritonitis	OMIM:615561
Meckel Syndrome, Type 4	Microphthalmia, Anencephaly, Encephalocele, Meningocele	OMIM:611134
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Chronic Hiccup	Weight loss	ORPHA:396
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Intrauterine growth retardation, Plagiocephaly, Short stature	OMIM:619833
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Weight loss, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Microphthalmia	OMIM:243310
Ciliary Dyskinesia, Primary, 42	Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Immunodeficiency 55	Lymphadenopathy, Eczematoid dermatitis, Lymphopenia, Recurrent skin infections, Absent natural ki...	OMIM:617827
Myotonic Dystrophy 1	Hypogonadism, Testicular atrophy, Cholelithiasis	OMIM:160900
Hyperuricemic Nephropathy, Familial Juvenile, 3	Abnormal renal insterstitial morphology, Impaired renal concentrating ability, Renal insufficienc...	OMIM:614227
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Pancreatitis, Diabetic ketoacidosis	ORPHA:70578
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Short stature, Brachycephaly	OMIM:109120
Hyperoxaluria, Primary, Type I	Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Reduced hepatic alanine-glyoxylate ami...	OMIM:259900
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100082
Heart And Brain Malformation Syndrome	Microphthalmia, Polyhydramnios	OMIM:616920
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Plagiocephaly, Spina bifida occulta, Prominent occiput, Short stature, Intrauterine growth retard...	OMIM:617360
Frontofacionasal Dysplasia	Short stature, Brachycephaly, Encephalocele	ORPHA:1791
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Exocrine pancreatic insufficiency, Weight loss, Keratoconjunctivitis sicc...	ORPHA:309031
ERI1-related disease	Brachycephaly, Trigonocephaly, Frontal bossing, Short stature, Intrauterine growth retardation	OMIM:608739
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Plagiocephaly, Umbilical hernia	OMIM:616579
Carpenter Syndrome 1	Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Short stature, Coronal craniosy...	OMIM:201000
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Ppoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu...	ORPHA:97278
Acute Transverse Myelitis	Urinary incontinence, Decreased circulating copper concentration, Gait disturbance, Urinary bladd...	ORPHA:139417
Chromosome 6Pter-P24 Deletion Syndrome	Brachycephaly, Frontal bossing, Umbilical hernia	OMIM:612582
Inflammatory Bowel Disease (Crohn Disease) 1	Recurrent aphthous stomatitis, Crohn's disease, Inflammation of the large intestine, Weight loss,...	OMIM:266600
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly	OMIM:612918
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Hepatic cysts, Stage 5 chronic kidney disease	OMIM:613819
Hereditary Central Diabetes Insipidus	Lethargy, Weight loss, Diabetes insipidus	ORPHA:30925
Exstrophy-Epispadias Complex	Urinary incontinence, Bifid penis, Bifid scrotum, Bladder fistula, Bladder duplication, Cystocele...	ORPHA:322
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Heart murmur	ORPHA:2728
Joubert Syndrome 21	Renal cyst, Pulmonary hypoplasia, Hyperechogenic kidneys, Splenomegaly, Ataxia, Chronic sinusitis	OMIM:615636
Isaacs Syndrome	Weight loss	ORPHA:84142
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Orofaciodigital Syndrome Type 1	Chronic otitis media, Elevated circulating hepatic transaminase concentration, Multicystic kidney...	ORPHA:2750
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Intrauterine growth retardation, Brachycephaly	OMIM:616897
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Brachycephaly	OMIM:218000
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Tracheobronchopathia Osteochondroplastica	Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec...	ORPHA:3348
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adre...	ORPHA:91347
Hereditary Sensory And Autonomic Neuropathy Type 4	Difficulty walking, Anemia, Tooth abscess, Recurrent aspiration pneumonia, Aplasia of the sweat g...	ORPHA:642
Carney Triad	Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Adrenocortical adenoma, Pheochromocytoma, A...	ORPHA:139411
Hermansky-Pudlak Syndrome 1	Inflammation of the large intestine, Renal insufficiency, Pulmonary fibrosis, Colitis	OMIM:203300
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatic hemangioma, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Recurr...	ORPHA:73230
Ventriculomegaly With Cystic Kidney Disease	Hyperechogenic kidneys, Renal insufficiency, Tubular luminal dilatation, Renal corticomedullary c...	OMIM:219730
Ritscher-Schinzel Syndrome 4	Short stature, Plagiocephaly, Brachycephaly	OMIM:619435
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, B lymphocytopenia, Rectal abscess, Failure to thrive, Recurrent sinusitis...	OMIM:601495
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration, Renal insufficiency, Renal cyst, Partial anomalous...	OMIM:617478
Thyrotoxic Periodic Paralysis	Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Thyrot...	ORPHA:79102
Sotos Syndrome	Chronic otitis media, Ureteral duplication, Prolonged neonatal jaundice, Congenital posterior ure...	ORPHA:821
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Growth delay, Left unicoronal synostosis, Anterior plagiocephaly, Plagiocephaly	OMIM:614749
Achondrogenesis, Type Ii	Disproportionate short-trunk short stature, Frontal bossing, Brachycephaly, Disproportionate shor...	OMIM:200610
Mucolipidosis Type Ii	Inability to walk, Left ventricular hypertrophy, Hepatosplenomegaly, Splenomegaly, Weight loss, O...	ORPHA:576
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610125
19P13.12 Microdeletion Syndrome	Intrauterine growth retardation, Craniosynostosis, Brachycephaly	ORPHA:254346
Lujan-Fryns Syndrome	Brachycephaly	ORPHA:776
Calciphylaxis	Secondary hyperparathyroidism, Stage 5 chronic kidney disease, Hyperphosphatemia	ORPHA:280062
Thyroid Lymphoma	Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter	ORPHA:97285
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Hepatoblastoma, Abnormality of the kidney, Iron deficiency anemia, Spastic gait	ORPHA:261584
Blepharophimosis-Impaired Intellectual Development Syndrome	Frontal bossing, Plagiocephaly	OMIM:619293
Aica-Ribosiduria Due To Atic Deficiency	Brachycephaly, Frontal bossing	OMIM:608688
Antley-Bixler Syndrome	Brachycephaly, Craniosynostosis, Turricephaly, Frontal bossing	ORPHA:83
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Feingold Syndrome Type 1	Abnormality of the kidney, Vesicoureteral reflux, Nephritis, Hydronephrosis, Patent ductus arteri...	ORPHA:391641
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Renal tubular dysfunction, Pancreatic hypoplasia, A...	ORPHA:99885
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Clitoral hypertrophy, Ectopic kidney, Labial hypoplasia, Vesicoureteral reflux, Bicornuate uterus...	ORPHA:140952
Adult-Onset Autosomal Dominant Leukodystrophy	Spastic gait, Erectile dysfunction, Recurrent urinary tract infections, Dysdiadochokinesis, Impot...	ORPHA:99027
Acrofrontofacionasal Dysostosis 2	Short stature, Brachycephaly	OMIM:239710
Mitochondrial Complex I Deficiency, Nuclear Type 29	Failure to thrive, Stage 5 chronic kidney disease, Hyperalaninemia, Lacticaciduria	OMIM:618250
Rodrigues Blindness	Microphthalmia	OMIM:268320
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Buphthalmos, Phthisis bulbi, Macular hypoplasia, Hemorrhage of the eye	ORPHA:91495
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Weight loss, Abnormal circula...	ORPHA:103910
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Plague	Carbuncle, Hepatomegaly, Inflammatory abnormality of the eye, Acute infectious pneumonia, Arthrit...	ORPHA:707
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Polyhydramnios, Weakness of facial musculature, Hypoplasia of the musc...	ORPHA:2020
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Failure to thrive, Elevated circulating follicle stimu...	OMIM:305400
Smith-Magenis Syndrome	Delayed puberty, Frontal bossing, Brachycephaly, Short stature	ORPHA:819
Moebius Syndrome	Microphthalmia	OMIM:157900
Alagille Syndrome	Delayed puberty, Brachycephaly, Spina bifida occulta, Frontal bossing, Intrauterine growth retard...	ORPHA:52
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Hyphema, Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Familial Colorectal Cancer Type X	Neoplasm of the thyroid gland, Neoplasm of the pancreas, Hepatocellular carcinoma, Gait disturban...	ORPHA:440437
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypokalemia,...	OMIM:613239
Graves Disease	Increased circulating free T3, Decreased thyroid-stimulating hormone level, Abnormal abdomen morp...	OMIM:275000
Infantile Neuroaxonal Dystrophy	Gait disturbance, Aspiration pneumonia, Increased circulating lactate dehydrogenase concentration...	ORPHA:35069
Trisomy 20P	Brachycephaly, Plagiocephaly, Spina bifida, Frontal bossing, Dolichocephaly, Umbilical hernia	ORPHA:261318
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Nabais Sa-De Vries Syndrome, Type 1	Brachycephaly	OMIM:618828
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Increased urinary type 1 collagen N-terminal telopeptide level, Iron deficiency anemia, Abnormal ...	ORPHA:93315
Humeroradial Synostosis	Brachycephaly	OMIM:236400
Wieacker-Wolff Syndrome, Female-Restricted	Short stature, Brachycephaly	OMIM:301041
Rere-Related Neurodevelopmental Syndrome	Microphthalmia	ORPHA:494344
Chromosome 2P16.1-P15 Deletion Syndrome	Intrauterine growth retardation, Postnatal growth retardation, Short stature, Brachycephaly	OMIM:612513
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Brachycephaly, Frontal bossing, Plagiocephaly	OMIM:617296
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Polyhydramnios, Septo-optic dysplasia	ORPHA:3301
Malignant Peritoneal Mesothelioma	Weight loss, Ascites, Peritonitis	ORPHA:168811
Intellectual Developmental Disorder, Autosomal Dominant 64	Growth delay, Plagiocephaly	OMIM:619188
Warburg Micro Syndrome 4	Short stature, Brachycephaly, Severe postnatal growth retardation	OMIM:615663
Williams-Beuren Syndrome	Abnormal renal morphology, Early onset of sexual maturation, Nephrocalcinosis, Urethral stenosis,...	OMIM:194050
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia	OMIM:300484
Houge-Janssens Syndrome 2	Plagiocephaly	OMIM:616362
9P13 Microdeletion Syndrome	Short stature, Brachycephaly, Umbilical hernia	ORPHA:324313
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Short stature, Craniosynostosis, Plagiocephaly, Growth delay	ORPHA:457193
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Developmental And Epileptic Encephalopathy 110	Posterior plagiocephaly	OMIM:620149
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Decreased serum thromboxane B2, Abnormal circulating eicosanoid concentration, Iron deficiency an...	OMIM:618372
Intellectual Disability-Strabismus Syndrome	Intrauterine growth retardation, Plagiocephaly, Short stature	ORPHA:363528
Infant Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis	ORPHA:70587
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Atresia Of Urethra	Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux...	ORPHA:105
Acrofrontofacionasal Dysostosis	Short stature, Brachycephaly	ORPHA:1784
Sporadic Creutzfeldt-Jakob Disease	Recurrent aspiration pneumonia, Ataxia	ORPHA:204
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Short stature, Brachycephaly	OMIM:619995
Baller-Gerold Syndrome	Brachycephaly, Brachyturricephaly, Short stature, Frontal bossing, Growth delay, Intrauterine gro...	ORPHA:1225
Marfan Syndrome	Emphysema, Cachexia, Spontaneous pneumothorax, Arthralgia/arthritis, Slender build, Pulmonary art...	ORPHA:558
Fg Syndrome Type 1	Plagiocephaly, Prominent occiput, Short stature, Umbilical hernia, Craniosynostosis	ORPHA:93932
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Congenital ...	ORPHA:280633
Martsolf Syndrome 1	Congestive heart failure, Microphthalmia, Cardiac arrest, Cardiomyopathy	OMIM:212720
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Flat occiput, Plagiocephaly	OMIM:619383
Lafora Disease	Lafora bodies, Nasogastric tube feeding, Hepatic failure	ORPHA:501
Hallermann-Streiff Syndrome	Brachycephaly, Proportionate short stature, Spina bifida, Frontal bossing, Parietal bossing, Doli...	OMIM:234100
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Renal cyst, Uterus didelphys, Renal hypoplasia, Urethrovaginal fistula, Hydr...	ORPHA:93271
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Growth delay, Brachycephaly	OMIM:300260
Tay-Sachs Disease	Inability to walk, Abnormal circulating enzyme concentration or activity, Increased serum beta-he...	ORPHA:845
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Chondrodysplasia Punctata 2, X-Linked Dominant	Edema, Microphthalmia, Polyhydramnios	OMIM:302960
Schimmelpenning-Feuerstein-Mims Syndrome	Short stature, Cranial asymmetry, Growth delay	OMIM:163200
Oculocerebrofacial Syndrome, Kaufman Type	Growth delay, Flat occiput, Brachycephaly	ORPHA:2707
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ...	OMIM:610913
Linear Nevus Sebaceus Syndrome	Plagiocephaly, Prominent occiput, Biparietal narrowing, Growth delay, Frontal bossing	ORPHA:2612
Chromosome 17P13.1 Deletion Syndrome	Brachycephaly, Plagiocephaly, Turricephaly, Spina bifida, Umbilical hernia	OMIM:613776
3P25.3 Microdeletion Syndrome	Pulmonic stenosis, Microphthalmia	ORPHA:435638
20Q11.2 Microduplication Syndrome	Growth delay, Trigonocephaly, Severe intrauterine growth retardation, Brachycephaly	ORPHA:363659
Mohr-Tranebjaerg Syndrome	Shuffling gait, Inability to walk, Aspiration pneumonia	ORPHA:52368
Mosaic Trisomy 9	Microphthalmia, Polyhydramnios, Hydrops fetalis, Spina bifida, Oligohydramnios	ORPHA:99776
8P23.1 Microdeletion Syndrome	Hypospadias, Pulmonary artery stenosis, Obesity, Weight loss, Patent ductus arteriosus, Cryptorch...	ORPHA:251071
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Pulmonary hypoplasia, Testicular atrophy	OMIM:601163
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
X-Linked Intellectual Disability Due To Gria3 Mutations	Short stature, Brachycephaly	ORPHA:364028
Contractural Arachnodactyly, Congenital	Brachycephaly, Frontal bossing, Dolichocephaly, Scaphocephaly	OMIM:121050
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy, Neoplasm of the lung	ORPHA:424019
Stickler Syndrome	Chronic otitis media, Cachexia, Slender build, Osteoarthritis, Recurrent respiratory infections, ...	ORPHA:828
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Weight loss, Hyperthyroidism, Hypokalemia	OMIM:188580
Distal Deletion 3P	Intrauterine growth retardation, Brachycephaly, Short stature, Umbilical hernia	ORPHA:1620
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Frontal bossing, Plagiocephaly	OMIM:619720
Rheumatoid Arthritis	Rheumatoid arthritis, Weight loss, Elevated circulating C-reactive protein concentration	OMIM:180300
Anauxetic Dysplasia 3	Plagiocephaly, Severe short stature	OMIM:618853
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Microphthalmia	OMIM:609053
Dihydropyrimidinase Deficiency	Growth delay, Plagiocephaly	OMIM:222748
7Q31 Microdeletion Syndrome	Intrauterine growth retardation, Plagiocephaly, Postnatal growth retardation	ORPHA:251061
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Abnormal circulating enzyme concentration or activity, Athetosis, Ataxia, Chro...	ORPHA:25
Dermatomyositis	Myocarditis, Abnormal pulmonary interstitial morphology, Elevated circulating hepatic transaminas...	ORPHA:221
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru...	OMIM:610805
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Pulmonary arterial hypertension	OMIM:616449
Hyperphosphatasia-Intellectual Disability Syndrome	Growth delay, Abnormal parietal bone morphology, Brachycephaly, Plagiocephaly	ORPHA:247262
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Short stature, Brachycephaly	ORPHA:562528
Microphthalmia/Coloboma 12	Microphthalmia, Optic nerve aplasia	OMIM:120200
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Congenital diaphragmatic hernia, Hypoplasia of right ventricle, Intermittent diarrhea, Transposit...	ORPHA:2255
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur...	OMIM:304150
Adenylosuccinase Deficiency	Growth delay, Brachycephaly	OMIM:103050
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Hypospadias, Increased serum testosterone level, Long penis, Truncal ataxia...	OMIM:264090
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Congenital Tufting Enteropathy	Cholestatic liver disease, Arthritis, Punctate keratitis, Failure to thrive, Weight loss	ORPHA:92050
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Nephrolithiasis, Calcium Oxalate, 1	Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstruction, Calcium oxalate nephrolit...	OMIM:167030
Bullous Pemphigoid	Psoriasiform dermatitis, Diabetes mellitus, Weight loss, Eczematoid dermatitis	ORPHA:703
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Short stature, Postnatal growth retardation, Brachycephaly	OMIM:614800
Amelogenesis Imperfecta, Type Ig	Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Renal insufficiency	OMIM:204690
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hair-pulling, Broad-based gait, Hypocalcemia, Recurrent bronchitis, Eczematoid dermatitis, Recurr...	OMIM:620330
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Short stature, Plagiocephaly, Spina bifida occulta	OMIM:619227
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Seckel Syndrome	Cachexia	ORPHA:808
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia, Telangiectasia, Corneal neovascularization	OMIM:278730
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231005
Incontinentia Pigmenti	Congestive heart failure, Microphthalmia, Spina bifida occulta, Cerebral ischemia, Retinal hemorr...	ORPHA:464
Intellectual Developmental Disorder, Autosomal Dominant 58	Short stature, Plagiocephaly	OMIM:618106
Fatal Familial Insomnia	Urinary retention, Ataxia, Weight loss	OMIM:600072
Chromosome 13Q33-Q34 Deletion Syndrome	Brachycephaly, Anencephaly, Encephalocele, Short stature, Trigonocephaly	OMIM:619148
Kabuki Syndrome 1	Recurrent otitis media, Anoperineal fistula, Premature thelarche, Congenital hypothyroidism, Hydr...	OMIM:147920
Osteogenesis Imperfecta, Type Xi	Short stature, Brachycephaly	OMIM:610968
Cerebrooculonasal Syndrome	Brachycephaly	ORPHA:66625
Marshall Syndrome	Short stature, Frontal bossing, Thickened calvaria, Brachycephaly	ORPHA:560
Warburg Micro Syndrome 3	Postnatal growth retardation, Brachycephaly	OMIM:614222
Vacterl With Hydrocephalus	Microphthalmia, Polyhydramnios, Spina bifida, Anophthalmia	ORPHA:3412
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Flat occiput, Brachycephaly	OMIM:618797
Pulmonary Alveolar Proteinosis, Acquired	Lung abscess, Intraalveolar phospholipid accumulation, Pneumonia, Recurrent respiratory infection...	OMIM:610910
Neurofaciodigitorenal Syndrome	Intrauterine growth retardation, Plagiocephaly, Brachycephaly, Short stature	ORPHA:2673
Microcephaly-Micromelia Syndrome	Microphthalmia, Oligohydramnios	OMIM:251230
Meconium Aspiration Syndrome	Pneumothorax, Atelectasis, Maternal diabetes, Aspiration pneumonia	ORPHA:70588
Acromelic Frontonasal Dysplasia	Brachycephaly, Encephalocele, Meningocele	ORPHA:1827
Hypomandibular Faciocranial Dysostosis	Trigonocephaly, Craniosynostosis, Brachycephaly	ORPHA:1790
Acrodysostosis	Short stature, Frontal bossing, Brachycephaly	ORPHA:950
Monosomy 22Q13.3	Hair-pulling, Vesicoureteral reflux, Obesity, Hydronephrosis, Recurrent pyelonephritis, Renal dys...	ORPHA:48652
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Coronal craniosynostosis, Frontal bossing, Lambdoidal craniosynostosis, Brachycephaly	OMIM:207410
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Arthrogryposis, Distal, Type 4	Cranial asymmetry	OMIM:609128
Chromosome 17Q12 Deletion Syndrome	Elevated circulating hepatic transaminase concentration, Unilateral renal agenesis, Aplasia of th...	OMIM:614527
Acrodysostosis 1 With Or Without Hormone Resistance	Brachycephaly, Disproportionate short-limb short stature, Calvarial hyperostosis, Short stature, ...	OMIM:101800
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Weight loss	ORPHA:312
Intellectual Developmental Disorder, Autosomal Dominant 1	Short stature, Frontal bossing, Postnatal growth retardation, Brachycephaly	OMIM:156200
Juvenile Dermatomyositis	Calcinosis, Elevated circulating C-reactive protein concentration, Myositis, Arthritis, Skin rash...	ORPHA:93672
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Brachycephaly	OMIM:620073
Craniosynostosis And Dental Anomalies	Brachycephaly, Turricephaly, Lambdoidal craniosynostosis, Short stature, Trigonocephaly, Frontal ...	OMIM:614188
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Pulmonic stenosis, Microphthalmia, Dilated cardiomyopathy, Encephalocele	OMIM:253800
Mandibuloacral Dysplasia With Type B Lipodystrophy	Stage 5 chronic kidney disease, Hyperinsulinemia, Hyperlipidemia, Insulin-resistant diabetes mell...	OMIM:608612
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Short stature, Brachycephaly, Skull asymmetry	OMIM:614701
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Bradykinesia, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadi...	OMIM:157640
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Noonan Syndrome 13	Plagiocephaly	OMIM:619087
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Peroxisome Biogenesis Disorder 4B	Decreased liver function, Hepatomegaly	OMIM:614863
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short stature, Brachycephaly	OMIM:619859
Malignant Atrophic Papulosis	Arteritis, Pleural effusion, Weight loss, Peritonitis, Abnormality of the lower urinary tract	ORPHA:679
X-Linked Dystonia-Parkinsonism	Bradykinesia, Difficulty walking, Shuffling gait, Aspiration pneumonia	ORPHA:53351
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Congenital Tracheomalacia	Pneumothorax, Pneumonia, Partial anomalous pulmonary venous return, Emphysema, Bronchiectasis, Fa...	ORPHA:95430
Temtamy Preaxial Brachydactyly Syndrome	Plagiocephaly	OMIM:605282
Momo Syndrome	Short stature, Frontal bossing, Brachycephaly	ORPHA:2563
Liposarcoma	Abnormality of the kidney, Weight loss	ORPHA:69078
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Growth delay, Frontal bossing, Plagiocephaly	OMIM:617193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Coffin-Siris Syndrome	Hypospadias, Papillary thyroid carcinoma, Aspiration pneumonia, Patent ductus arteriosus, Hepatob...	ORPHA:1465
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia, Abnormality of the thyroid gland	ORPHA:1969
Enamel-Renal Syndrome	Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating os...	ORPHA:1031
Lissencephaly Due To Lis1 Mutation	Aspiration pneumonia, Neonatal hyperbilirubinemia	ORPHA:95232
De Barsy Syndrome	Brachycephaly, Postnatal growth retardation, Short stature, Umbilical hernia, Intrauterine growth...	ORPHA:2962
Intellectual Developmental Disorder, Autosomal Dominant 53	Growth delay, Posterior plagiocephaly, Brachycephaly	OMIM:617798
Mosaic Trisomy 1	Microphthalmia, Polyhydramnios, Increased nuchal translucency	ORPHA:1692
Multiple Pterygium-Malignant Hyperthermia Syndrome	Plagiocephaly, Dolichocephaly, Severe short stature	ORPHA:2215
Opitz Gbbb Syndrome	Hypospadias, Thyroglossal cyst, Vesicoureteral reflux, Bifid scrotum, Bicornuate uterus, Hydronep...	ORPHA:2745
Pfeiffer Syndrome Type 1	Bicoronal synostosis, Brachycephaly	ORPHA:93258
Cranioectodermal Dysplasia 3	Cirrhosis, Stage 5 chronic kidney disease, Peripheral pulmonary artery stenosis, Nephronophthisis	OMIM:614099
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Brachycephaly, Lambdoidal craniosynostosis	OMIM:615398
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Plagiocephaly, Brachycephaly	ORPHA:500055
Apert Syndrome	Brachycephaly, Lambdoidal craniosynostosis, Acrobrachycephaly, Brachyturricephaly, Rhizomelic arm...	OMIM:101200
White-Sutton Syndrome	Intrauterine growth retardation, Brachycephaly, Short stature	OMIM:616364
Hirschsprung Disease	Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss	ORPHA:388
Senior-Loken Syndrome 3	Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts	OMIM:606995
Developmental And Epileptic Encephalopathy 84	Plagiocephaly	OMIM:618792
Momo Syndrome	Brachycephaly, Frontal bossing	OMIM:157980
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Frontorhiny	Cranium bifidum occultum, Microphthalmia, Basal encephalocele, Encephalocele	ORPHA:391474
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Cerebrooculonasal Syndrome	Postnatal growth retardation, Brachycephaly, Proboscis, Encephalocele, Frontal bossing, Craniosyn...	OMIM:605627
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis, Failure ...	ORPHA:353281
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Weight loss	OMIM:191390
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Frontal bossing, Dolichocephaly, Plagiocephaly	ORPHA:457279
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Postnatal growth retardation, Plagiocephaly, Flat occiput	ORPHA:300570
Miller-Dieker Lissencephaly Syndrome	Pelvic kidney, Failure to thrive, Recurrent aspiration pneumonia, Cryptorchidism	OMIM:247200
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Breast aplasia, Renal hypoplasia, Renal insufficiency, Pyelonephritis	OMIM:181270
Au-Kline Syndrome	Vesicoureteral reflux, Cryptorchidism, Failure to thrive, Hydronephrosis, Chronic kidney disease,...	OMIM:616580
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat...	ORPHA:668
Angelman Syndrome	Flat occiput, Brachycephaly	OMIM:105830
2P15P16.1 Microdeletion Syndrome	Intrauterine growth retardation, Brachycephaly, Growth delay	ORPHA:261349
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Crazy paving pattern, Intraalveolar phospholipid accu...	ORPHA:747
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Intrauterine growth retardation, Frontal bossing, Dolichocephaly, Plagiocephaly	OMIM:619005
Steinert Myotonic Dystrophy	Abnormality of thyroid physiology, Hyperinsulinemia, Elevated circulating hepatic transaminase co...	ORPHA:273
Noonan Syndrome With Multiple Lentigines	Brachycephaly, Spina bifida occulta, Growth delay, Short stature, Intrauterine growth retardation	ORPHA:500
Cleidocranial Dysplasia	Short stature, Frontal bossing, Brachycephaly, Spina bifida occulta	ORPHA:1452
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Short stature, Plagiocephaly	ORPHA:2916
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Atelis Syndrome 2	Pulmonic stenosis, Microphthalmia, Vitreous hemorrhage, Supravalvar pulmonary stenosis	OMIM:620185
Oculodentodigital Dysplasia, Autosomal Recessive	Short stature, Frontal bossing, Brachycephaly	OMIM:257850
Neurooculorenal Syndrome	Unilateral renal agenesis, Decreased circulating ACTH concentration, Bilateral renal agenesis, Ce...	OMIM:620305
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Trisomy 9P	Brachycephaly	ORPHA:236
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
3Q29 Microdeletion Syndrome	Microphthalmia, Pulmonary arterial hypertension	ORPHA:65286
Craniofrontonasal Syndrome	Brachycephaly, Short stature, Frontal bossing, Coronal craniosynostosis, Umbilical hernia	OMIM:304110
Saethre-Chotzen Syndrome	Short stature, Craniosynostosis, Brachycephaly, Plagiocephaly	ORPHA:794
Perry Syndrome	Bradykinesia, Akinesia, Short stepped shuffling gait, Weight loss	OMIM:168605
Hyperparathyroidism, Transient Neonatal	Brachycephaly, Frontal bossing, Umbilical hernia	OMIM:618188
49,Xxxxy Syndrome	Short stature, Brachycephaly	ORPHA:96264
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Brachycephaly, Plagiocephaly, Parietal foramina, Coronal craniosynostosis, Frontal bossing	ORPHA:85199
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Plagiocephaly	ORPHA:2063
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Plagiocephaly, Dolichocephaly, Umbilical hernia	ORPHA:1101
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia	ORPHA:251038
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Pulmonary capillary hemangiomatosis, Mediastinal lymphadenopathy, Lymphadenopath...	ORPHA:199241
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Cornelia De Lange Syndrome	Delayed puberty, Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, Truncal obesity,...	ORPHA:199
Beck-Fahrner Syndrome	Brachycephaly	OMIM:618798
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Failure to thrive, Splenomegaly, Recurrent respiratory infections, Aplasia of the s...	OMIM:612132
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Hepatomegaly, Splenomegaly, Vaginal atresia, Patent ductus arteriosus, Horsesho...	OMIM:617088
Warburg Micro Syndrome 2	Postnatal growth retardation, Brachycephaly	OMIM:614225
Reactive Arthritis	Recurrent aphthous stomatitis, Recurrent urinary tract infections, Arthritis, Pericarditis, Pustu...	ORPHA:29207
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification, Weight loss	ORPHA:677
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia, Chylothorax, Lymphedema, Pleural effusion, Edema	ORPHA:2526
Dysostosis, Stanescu Type	Short stature, Brachycephaly	ORPHA:1798
Hereditary Late-Onset Parkinson Disease	Bradykinesia, Akinesia, Shuffling gait, Spastic/hyperactive bladder, Weight loss	ORPHA:411602
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Polyhydramnios, Aortic regurgitation, Ascites, Increased nuchal translucency	ORPHA:1052
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Telangiectasia	OMIM:601675
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Short stature, Frontal bossing, Brachycephaly, Plagiocephaly	OMIM:610759
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Marbach-Schaaf Neurodevelopmental Syndrome	Plagiocephaly	OMIM:619680
Cree Mental Retardation Syndrome	Brachycephaly	OMIM:606851
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Intrauterine growth retardation, Branchial anomaly, Plagiocephaly, Craniosynostosis	ORPHA:453499
Aspartylglucosaminuria	Chronic otitis media, Hepatomegaly, Arthritis, Splenomegaly, Recurrent respiratory infections, As...	ORPHA:93
Cap Polyposis	Weight loss, Atrophic gastritis	ORPHA:160148
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Growth delay, Plagiocephaly	OMIM:615471
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Congenital Disorder Of Glycosylation, Type Iia	Short stature, Postnatal growth retardation, Brachycephaly	OMIM:212066
Townes-Brocks Syndrome	Delayed puberty, Abnormality of the kidney, Hypospadias, Ectopic kidney, Hypoplasia of penis, Abn...	ORPHA:857
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Recurrent pneumonia, Recurrent aspiration pneumonia, Bilateral cryptorchidism, Patent ductus arte...	OMIM:300472
Micro Syndrome	Microphthalmia	ORPHA:2510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Brachycephaly, Rhizomelia, Short stature, Frontal bossing, Craniosynostosis	OMIM:245600
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Delayed puberty, Mild postnatal growth retardation, Brachycephaly	ORPHA:456312
Mosaic Variegated Aneuploidy Syndrome 1	Intrauterine growth retardation, Postnatal growth retardation, Short stature, Brachycephaly	OMIM:257300
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Flat occiput, Exencephaly, Encephalocele, Brachycephaly	ORPHA:2211
Fryns Syndrome	Microphthalmia, Polyhydramnios	ORPHA:2059
Lynch Syndrome	Neoplasm of the thyroid gland, Adenoma sebaceum, Neoplasm of the pancreas, Renal neoplasm, Ovaria...	ORPHA:144
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Hypoplasia of the iris	OMIM:613001
Den Hoed-De Boer-Voisin Syndrome	Intrauterine growth retardation, Brachycephaly	OMIM:619229
Metaphyseal Chondrodysplasia, Jansen Type	Brachycephaly, Severe short stature	OMIM:156400
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Short stature, Plagiocephaly, Postnatal growth retardation	OMIM:300749
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Polyhydramnios, Encephalocele, Umbilical hernia	ORPHA:2166
Mycophenolate Mofetil Embryopathy	Microphthalmia, Hydrops fetalis	ORPHA:268249
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Broad-based gait, Gait ataxia, Ataxia, Weight loss, Progressive gait ataxia, Mildly elevated crea...	OMIM:607459
Gapo Syndrome	Growth delay, Frontal bossing, Plagiocephaly, Umbilical hernia	OMIM:230740
Alkuraya-Kucinskas Syndrome	Plagiocephaly	OMIM:617822
Geleophysic Dysplasia 3	Pneumonia, Hepatomegaly	OMIM:617809
Costello Syndrome	Pneumothorax, Failure to thrive, Lymphangiectasis, Renal insufficiency	OMIM:218040
Cat Eye Syndrome	Pulmonic stenosis, Microphthalmia, Umbilical hernia	OMIM:115470
Chromosome 15Q11.2 Deletion Syndrome	Short stature, Plagiocephaly	OMIM:615656
Acquired Central Diabetes Insipidus	Pollakisuria, Weight loss, Diabetes insipidus	ORPHA:95626
19P13.13 Microdeletion Syndrome	Brachycephaly, Dolichocephaly	ORPHA:357001
Hoxha-Aliu Syndrome	Brachycephaly	OMIM:620662
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Pulmonary arterial hypertension	ORPHA:464738
Marshall-Smith Syndrome	Decreased body weight, Aspiration pneumonia, Bilateral cryptorchidism, Failure to thrive, Recurre...	OMIM:602535
Weill-Marchesani Syndrome 1	Short stature, Brachycephaly, Broad skull, Proportionate short stature	OMIM:277600
Raine Syndrome	Short stature, Plagiocephaly, Brachycephaly, Brachyturricephaly	OMIM:259775
Doors Syndrome	Aspiration pneumonia, Congenital hypothyroidism, Adrenal hyperplasia, Nephrocalcinosis, Increased...	ORPHA:79500
48,Xxxy Syndrome	Brachycephaly	ORPHA:96263
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia	OMIM:601812
Opitz-Kaveggia Syndrome	Short stature, Frontal bossing, Plagiocephaly, Umbilical hernia	OMIM:305450
Fibrochondrogenesis	Short stature, Plagiocephaly	ORPHA:2021
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Oligohydramnios	ORPHA:364577
Norrie Disease	Delayed puberty, Erectile dysfunction, Uterine rupture, Cachexia, Cryptorchidism, Failure to thri...	ORPHA:649
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Brachycephaly	OMIM:619244
Cerebrofaciothoracic Dysplasia	Short stature, Brachycephaly	ORPHA:1394
Lig4 Syndrome	Brachycephaly	OMIM:606593
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Frontal bossing, Turricephaly, Plagiocephaly	OMIM:613603
Apert Syndrome	Cloverleaf skull, Frontal bossing, Brachyturricephaly, Acrobrachycephaly	ORPHA:87
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Adnp Syndrome	Brachycephaly, Plagiocephaly, Short stature, Trigonocephaly, Umbilical hernia	ORPHA:404448
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormality of the kidney, Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormality of the kidney, Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux...	ORPHA:353277
Oculoauricular Syndrome	Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia	OMIM:612109
Perry Syndrome	Weight loss	ORPHA:178509
Tropical Pancreatitis	Jaundice, Abnormal pancreatic duct morphology, Maternal diabetes, Pancreatic calcification, Weigh...	ORPHA:103918
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Growth delay, Plagiocephaly	ORPHA:496641
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Short stature, Thickened calvaria, Brachycephaly	OMIM:309583
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Plagiocephaly, Turricephaly	OMIM:620224
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia, Encephalocele	OMIM:614643
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Kleefstra Syndrome 1	Brachycephaly	OMIM:610253
Weill-Marchesani Syndrome 2	Brachycephaly, Broad skull, Proportionate short stature, Short stature, Umbilical hernia	OMIM:608328
Combined Oxidative Phosphorylation Deficiency 25	Reduced circulating growth hormone concentration, Failure to thrive, Aspiration pneumonia	OMIM:616430
Loeys-Dietz Syndrome 5	Short stature, Dolichocephaly, Brachycephaly, Growth delay	OMIM:615582
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly	ORPHA:2988
Fucosidosis	Brachycephaly	ORPHA:349
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Plagiocephaly	OMIM:239300
Pseudotrisomy 13 Syndrome	Microphthalmia, Encephalocele	OMIM:264480
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia, Spina bifida occulta	OMIM:607323
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome	OMIM:268315
Sweeney-Cox Syndrome	Flat occiput, Brachycephaly	OMIM:617746
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Holoprosencephaly	Microphthalmia, Encephalocele, Anophthalmia, Branchial anomaly, Arrhythmia, Spinal dysraphism	ORPHA:2162
Acrodermatitis Enteropathica	Cheilitis, Blepharitis, Pustule, Failure to thrive, Weight loss, Conjunctivitis	ORPHA:37
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Microphthalmia, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos	OMIM:236670
Down Syndrome	Delayed puberty, Brachycephaly, Short stature, Umbilical hernia	ORPHA:870
Curry-Jones Syndrome	Microphthalmia, Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Spina bifida, Hydranencephaly	ORPHA:2839
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Brachycephaly	ORPHA:371428
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Hypospadias, Vesicoureteral reflux, Aspira...	ORPHA:444077
Joubert Syndrome 5	Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Ataxia, Reduced ren...	OMIM:610188
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Baller-Gerold Syndrome	Brachycephaly, Lambdoidal craniosynostosis, Turricephaly, Spina bifida occulta, Bicoronal synosto...	OMIM:218600
Chromosome 14Q11-Q22 Deletion Syndrome	Growth delay, Plagiocephaly, Proportionate short stature	OMIM:613457
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Incontinentia Pigmenti	Microphthalmia, Hypoplasia of the fovea, Retinal hemorrhage	OMIM:308300
Cohen Syndrome	Microphthalmia	ORPHA:193
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Holoprosencephaly 7	Cranial asymmetry, Frontal bossing, Parietal bossing, Occipital meningocele, Flat occiput	OMIM:610828
White-Sutton Syndrome	Short stature, Brachycephaly	ORPHA:468678
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Short stature, Frontal bossing, Brachycephaly	OMIM:616728
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Microphthalmia, Junctional ectopic tachycardia, Arrhythmia	OMIM:309801
Fraser Syndrome 2	Microphthalmia, Oligohydramnios	OMIM:617666
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Short stature, Brachycephaly	OMIM:300968
Aymé-Gripp Syndrome	Postnatal growth retardation, Plagiocephaly, Brachycephaly, Short stature, Craniosynostosis	ORPHA:1272
Faciocardiorenal Syndrome	Plagiocephaly	ORPHA:1973
Multicentric Osteolysis, Nodulosis, And Arthropathy	Short stature, Frontal bossing, Brachycephaly	OMIM:259600
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec...	OMIM:107480
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Anophthalmia	OMIM:206900
Abnormal Hair, Joint Laxity, And Developmental Delay	Plagiocephaly	OMIM:261990
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Recurrent respiratory infections, Urinary incontinence, Hair-pulling	ORPHA:447997
7Q11.23 Microduplication Syndrome	Brachycephaly, Short stature, Growth delay, Dolichocephaly, Craniosynostosis	ORPHA:96121
Gerstmann-Straussler Disease	Bradykinesia, Limb ataxia, Truncal ataxia, Gait ataxia, Weight loss	OMIM:137440
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Delayed puberty, Anterior plagiocephaly, Bicoronal synostosis	OMIM:619718
Teebi-Shaltout Syndrome	Aortic valve stenosis, Microphthalmia	OMIM:272950
Saethre-Chotzen Syndrome	Brachycephaly, Plagiocephaly, Lambdoidal craniosynostosis, Parietal foramina, Short stature, Coro...	OMIM:101400
Proximal Spinal Muscular Atrophy	Difficulty walking, Recurrent aspiration pneumonia, Inability to walk, Recurrent infections due t...	ORPHA:70
Fontaine Progeroid Syndrome	Pneumothorax, Patent ductus arteriosus, Hypoplastic nipples, Absent nipple, Failure to thrive, Ne...	OMIM:612289
Cartilage-Hair Hypoplasia	Brachycephaly, Spinal dysraphism, Rhizomelia, Disproportionate short-limb short stature	ORPHA:175
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Postnatal growth retardation, Craniosynostosis, Frontal bossing, Plagiocephaly	ORPHA:536467
Wrinkly Skin Syndrome	Progressive cerebellar ataxia, Failure to thrive, Recurrent sinopulmonary infections, High noncer...	ORPHA:2834
9Q33.3Q34.11 Microdeletion Syndrome	Brachycephaly, Plagiocephaly	ORPHA:495818
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Atelosteogenesis Type Ii	Plagiocephaly, Rhizomelia, Rhizomelic arm shortening	ORPHA:56304
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia	ORPHA:77301
Arboleda-Tham Syndrome	Chronic otitis media, Recurrent otitis media, Patent ductus arteriosus, Gait imbalance, Recurrent...	OMIM:616268
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Carey-Fineman-Ziter Syndrome 1	Growth delay, Plagiocephaly	OMIM:254940
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Arthrogryposis And Ectodermal Dysplasia	Short stature, Brachycephaly	OMIM:601701
Yunis-Varon Syndrome	Bilateral microphthalmos, Polyhydramnios, Microphthalmia, Hydrops fetalis, Hypertension, Cardiomy...	ORPHA:3472
Chikungunya	Lymphadenopathy, Arthritis, Skin rash, Synovitis, Crusting erythematous dermatitis, Enthesitis, I...	ORPHA:324625
Cousin Syndrome	Microphthalmia, Hydranencephaly	OMIM:260660
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos...	ORPHA:217563
Orofaciodigital Syndrome Ix	Recurrent aspiration pneumonia	OMIM:258865
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Growth delay, Brachycephaly	OMIM:601353
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Microphthalmia, Aortic regurgitation, Spina bifida	ORPHA:508498
Floating-Harbor Syndrome	Hypospadias, Broad-based gait, Polycystic kidney dysplasia, Renal cyst, Cryptorchidism, Renal age...	ORPHA:2044
Adams-Oliver Syndrome 1	Microphthalmia, Encephalocele, Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, ...	OMIM:100300
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Short stature, Craniosynostosis, Postnatal growth retardation, Brachycephaly	OMIM:213980
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Brachycephaly, Frontal bossing, Plagiocephaly, Umbilical hernia	OMIM:280000
Oculodentodigital Dysplasia	Microphthalmia, Arrhythmia	OMIM:164200
Kaufman Oculocerebrofacial Syndrome	Short stature, Brachycephaly	OMIM:244450
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Encephalocele	OMIM:616300
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Arrhythmia, D...	ORPHA:2556
Short Syndrome	Diabetes mellitus, Weight loss	ORPHA:3163
Hallermann-Streiff Syndrome	Congestive heart failure, Microphthalmia	ORPHA:2108
Neu-Laxova Syndrome 1	Short umbilical cord, Microphthalmia, Polyhydramnios, Small placenta, Hydranencephaly, Spina bifi...	OMIM:256520
1Q21.1 Microdeletion Syndrome	Microphthalmia	ORPHA:250989
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Brachycephaly, Frontal bossing	ORPHA:1236
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Hunter-Macdonald Syndrome	Short stature, Brachycephaly, Umbilical hernia	OMIM:611962
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Brachycephaly, Frontal bossing, Plagiocephaly	OMIM:619512
Myhre Syndrome	Aortic valve stenosis, Pericardial effusion, Microphthalmia, Hypertension	OMIM:139210
Alg12-Cdg	Intrauterine growth retardation, Posterior plagiocephaly	ORPHA:79324
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Polyhydramnios, Branchial cyst, Pulmonary arterial hypertension	OMIM:620186
Basal Cell Nevus Syndrome 1	Microphthalmia, Spina bifida	OMIM:109400
Dubowitz Syndrome	Microphthalmia, Hypoplasia of the iris	OMIM:223370
Microphthalmia, Syndromic 9	Pulmonic stenosis, Bilateral microphthalmos, Anophthalmia	OMIM:601186
Autosomal Recessive Faciodigitogenital Syndrome	Short stature, Frontal bossing, Brachycephaly	ORPHA:1974
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Treacher-Collins Syndrome	Brachycephaly, Frontal bossing, Branchial fistula, Encephalocele	ORPHA:861
Intellectual Developmental Disorder, Autosomal Dominant 29	Brachycephaly, Frontal bossing	OMIM:616078
Acrofrontofacionasal Dysostosis 1	Short stature, Brachycephaly	OMIM:201180
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia	OMIM:608940
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Brachycephaly, Turricephaly, Frontal bossing, Craniosynostosis	ORPHA:95699
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Brachycephaly, Craniosynostosis	ORPHA:369837
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Trichothiodystrophy	Bilateral microphthalmos, Cardiomyopathy, Umbilical hernia	ORPHA:33364
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia	OMIM:147791
Branchioskeletogenital Syndrome	Brachycephaly, Craniosynostosis, Thickened calvaria, Umbilical hernia	ORPHA:1299
Progressive Non-Infectious Anterior Vertebral Fusion	Brachycephaly	ORPHA:2062
Frank-Ter Haar Syndrome	Growth delay, Flat occiput, Brachycephaly	OMIM:249420
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Telangiectasia	OMIM:268400
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Frontal bossing, Dolichocephaly, Plagiocephaly, Spina bifida	OMIM:619480
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short stature, Brachycephaly	OMIM:618223
Duane Retraction Syndrome	Plagiocephaly, Spina bifida occulta	ORPHA:233
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of r...	OMIM:142900
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Short stature, Plagiocephaly	OMIM:620083
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Roberts Syndrome	Postnatal growth retardation, Craniosynostosis, Severe intrauterine growth retardation, Brachycep...	ORPHA:3103
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Cleidocranial Dysplasia 2	Plagiocephaly	OMIM:620099
Turnpenny-Fry Syndrome	Brachycephaly, Plagiocephaly, Frontal bossing, Intrauterine growth retardation, Mild short stature	OMIM:618371
Gorlin Syndrome	Brachycephaly, Frontal bossing	ORPHA:377
Frontofacionasal Dysplasia	Brachycephaly, Cranium bifidum occultum, Hypoplasia of the frontal bone	OMIM:229400
Fryns Syndrome	Chylothorax, Microphthalmia, Polyhydramnios	OMIM:229850
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Postnatal growth retardation, Plagiocephaly, Large placenta, Short stature, Growth delay, Frontal...	ORPHA:96334
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Stage 5 chronic kidney disease, Proteinuria	OMIM:219900
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Brachycephaly	ORPHA:521445
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Microphthalmia, Syndromic 2	Microphthalmia, Anophthalmia, Pulmonic stenosis, Aortic valve stenosis, Umbilical hernia, Phthisi...	OMIM:300166
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Plagiocephaly	OMIM:618548
Oculopharyngodistal Myopathy 1	Difficulty walking, Ataxia, Elevated circulating creatine kinase concentration, Weight loss	OMIM:164310
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Urinary incontinence, Difficulty walking, Aspiration pneumonia	OMIM:619482
Bickerstaff Brainstem Encephalitis	Pneumonia, Respiratory tract infection, Ataxia	ORPHA:79138
Distal Deletion 12Q	Short stature, Frontal bossing, Brachycephaly, Growth delay	ORPHA:96149
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Inability to walk, Abnormality of the endo...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Inability to walk, Abnormality of the endo...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Inability to walk, Abnormality of the endo...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Inability to walk, Abnormality of the endo...	ORPHA:93924
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Decreased calvarial ossification, Frontal bossing, Brachycephaly	OMIM:617925
Oromandibular Dystonia	Weight loss	ORPHA:93958
Kbg Syndrome	Short stature, Brachycephaly	OMIM:148050
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Bifid Nose With Or Without Anorectal And Renal Anomalies	Brachycephaly	OMIM:608980
Chilton-Okur-Chung Neurodevelopmental Syndrome	Plagiocephaly, Posterior plagiocephaly, Short stature, Frontal bossing, Dolichocephaly, Intrauter...	OMIM:619841
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Oligohydramnios	OMIM:608670
Osteopetrosis With Renal Tubular Acidosis	Short stature, Plagiocephaly, Thickened calvaria, Brachycephaly	ORPHA:2785
Congenital Myopathy 13	Short stature, Brachycephaly	OMIM:255995
Mend Syndrome	Aortic valve stenosis, Microphthalmia	ORPHA:401973
Osteogenesis Imperfecta	Brachycephaly, Rhizomelia, Prominent occiput, Growth delay, Short stature, Umbilical hernia, Intr...	ORPHA:666
Faundes-Banka Syndrome	Delayed puberty, Frontal bossing, Intrauterine growth retardation, Plagiocephaly	OMIM:619376
Ayme-Gripp Syndrome	Short stature, Craniofacial asymmetry, Brachycephaly	OMIM:601088
Carpenter Syndrome 2	Brachycephaly, Trigonocephaly, Frontal bossing, Umbilical hernia, Craniosynostosis, Oxycephaly	OMIM:614976
Ring Chromosome 7 Syndrome	Short stature, Plagiocephaly, Severe intrauterine growth retardation, Brachycephaly	ORPHA:1449
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Monosomy 9P	Trigonocephaly, Calvarial skull defect, Brachycephaly	ORPHA:261112
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Aicardi Syndrome	Microphthalmia, Spina bifida	OMIM:304050
Coffin-Siris Syndrome 1	Postnatal growth retardation, Brachycephaly, Plagiocephaly, Spina bifida occulta, Short stature, ...	OMIM:135900
Congenital Fibrosis Of Extraocular Muscles	Plagiocephaly	ORPHA:45358
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Short stature, Trigonocephaly, Brachycephaly, Craniosynostosis	OMIM:309590
Thrombocytopenia-Absent Radius Syndrome	Short stature, Brachycephaly, Spina bifida	OMIM:274000
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal right ventricle morphology, Camptodactyly, Mitral valve prolapse, Ventricular septal def...	ORPHA:500095
Charge Syndrome	Umbilical hernia, Microphthalmia, Polyhydramnios, Anophthalmia	ORPHA:138
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goiter, Activating thyroid-stim...	ORPHA:424
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Peters Plus Syndrome	Postnatal growth retardation, Brachycephaly, Rhizomelia, Disproportionate short-limb short statur...	ORPHA:709
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Short stature, Brachycephaly, Growth delay	OMIM:619950
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Plagiocephaly, Dolichocephaly, Intrauterine growth retardation	OMIM:619475
Faciodigitogenital Syndrome, Autosomal Recessive	Brachycephaly, Proportionate short stature	OMIM:227330
14Q22Q23 Microdeletion Syndrome	Short stature, Brachycephaly	ORPHA:264200
Bartsocas-Papas Syndrome 1	Microphthalmia	OMIM:263650
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Craniosynostosis, Plagiocephaly	ORPHA:1521
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia	OMIM:616975
Acromelic Frontonasal Dysostosis	Brachycephaly, Parietal foramina, Encephalocele	OMIM:603671
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Intrauterine growth retardation, Frontal bossing, Brachycephaly, Short stature	OMIM:617157
Aicardi Syndrome	Delayed puberty, Plagiocephaly	ORPHA:50
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Phace Syndrome	Optic nerve hypoplasia, Microphthalmia, Lens coloboma	ORPHA:42775
Wiedemann-Rautenstrauch Syndrome	Cranial asymmetry, Severe intrauterine growth retardation, Short stature, Growth delay, Frontal b...	ORPHA:3455
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Spina bifida occulta, Anophthalmia, Myelomeningocele, Umbilical hernia,...	OMIM:305600
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Brachycephaly, Umbilical hernia	OMIM:601776
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Umbilical hernia	OMIM:613884
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Holoprosencephaly 9	Optic nerve hypoplasia, Microphthalmia, Occipital meningocele, Anophthalmia	OMIM:610829
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Hair-pulling	OMIM:616393
Specc1L-Related Hypertelorism Syndrome	Brachycephaly, Umbilical hernia	ORPHA:1519
Helsmoortel-Van Der Aa Syndrome	Intrauterine growth retardation, Posterior plagiocephaly, Short stature	OMIM:615873
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Ischemic stroke, Microphthalmia, Corneal neovascularization, Retinal hemorrhage, Hypoplasia of th...	OMIM:175780
Familial Gestational Hyperthyroidism	Thyrotoxicosis with diffuse goiter, Hyperthyroidism, Weight loss, Goiter, Activating thyroid-stim...	ORPHA:99819
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Pubertal developmental failure in females, Hypoplastic male external ge...	ORPHA:740
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Bilateral microphthalmos	ORPHA:468631
Witteveen-Kolk Syndrome	Microphthalmia, Polyhydramnios, Branchial fistula, Intracranial hemorrhage	OMIM:613406
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Delayed puberty, Frontal bossing, Thickened calvaria, Plagiocephaly	ORPHA:466791
Charge Syndrome	Microphthalmia, Polyhydramnios, Anophthalmia, Unilateral microphthalmos, Pulmonic stenosis, Umbil...	OMIM:214800
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Aicardi-Goutières Syndrome	Short stature, Plagiocephaly	ORPHA:51
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
6Q Terminal Deletion Syndrome	Plagiocephaly, Dolichocephaly	ORPHA:75857
Proboscis Lateralis	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	ORPHA:141099
Trichotillomania	Hair-pulling	OMIM:613229
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Hydrolethalus Syndrome 1	Microphthalmia, Polyhydramnios, Anencephaly	OMIM:236680
Chime Syndrome	Brachycephaly	ORPHA:3474
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Gastrointestinal hemorrhage, Spina bifida occulta, Optic nerve hypoplas...	ORPHA:508488
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Brachycephaly, Frontal bossing, Turricephaly, Prominent occiput	OMIM:612474
Cornelia De Lange Syndrome 6	Pulmonary artery atresia, Hair-pulling	OMIM:620568
Neuroocular Syndrome	Microphthalmia, Hypoplasia of the fovea, Lens coloboma, Umbilical hernia	OMIM:619539
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Plagiocephaly	ORPHA:457284
Down Syndrome	Short stature, Brachycephaly	OMIM:190685
X-Linked Intellectual Disability, Armfield Type	Short stature, Brachycephaly	ORPHA:85276
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Fraser Syndrome	Microphthalmia, Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia	ORPHA:2052
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Short stature, Plagiocephaly, Sagittal craniosynostosis	OMIM:620455
1P36 Deletion Syndrome	Short stature, Frontal bossing, Brachycephaly	ORPHA:1606
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short stature, Brachycephaly	OMIM:610442
Renpenning Syndrome 1	Short stature, Brachycephaly	OMIM:309500
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy, Neoplasm of the lung	ORPHA:424016
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Short stature, Plagiocephaly, Postnatal growth retardation	OMIM:613355
Pallister-Hall Syndrome	Microphthalmia, Oligohydramnios, Umbilical hernia	ORPHA:672
Carney-Stratakis Syndrome	Paraganglioma, Weight loss	ORPHA:97286
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Short stature, Plagiocephaly	ORPHA:3042
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Brachycephaly, Frontal bossing, Dolichocephaly	OMIM:619503
Fraser Syndrome 1	Bilateral microphthalmos, Encephalocele, Myelomeningocele, Anophthalmia	OMIM:219000
Trichorhinophalangeal Syndrome, Type Ii	Growth delay, Plagiocephaly, Mild postnatal growth retardation, Skull asymmetry	OMIM:150230
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Brachycephaly	OMIM:265380
Chromosome 1P36 Deletion Syndrome, Distal	Growth delay, Frontal bossing, Brachycephaly	OMIM:607872
Yunis-Varon Syndrome	Severe failure to thrive, Hypospadias, Hypoplastic nipples, Absent nipple, Aspiration pneumonia, ...	OMIM:216340
Elsahy-Waters Syndrome	Brachycephaly	OMIM:211380
Aspartylglucosaminuria	Short stature, Thickened calvaria, Brachycephaly	OMIM:208400
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Branchiooculofacial Syndrome	Branchial anomaly, Microphthalmia, Anophthalmia	OMIM:113620
Roberts-Sc Phocomelia Syndrome	Postnatal growth retardation, Brachycephaly, Craniosynostosis, Severe intrauterine growth retarda...	OMIM:268300
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Delayed puberty, Brachycephaly, Short stature	ORPHA:480880
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Brachycephaly, Craniosynostosis, Cloverleaf skull, Frontal bossing	OMIM:201750
Mowat-Wilson Syndrome	Pulmonic stenosis, Microphthalmia	OMIM:235730
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hyphema, Microphthalmia, Aortic valve stenosis, Pulmonic stenosis	ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Pulmonic stenosis, Microphthalmia, Aortic valve stenosis	ORPHA:261537
Mowat-Wilson Syndrome	Pulmonic stenosis, Microphthalmia, Aortic valve stenosis	ORPHA:2152
Primrose Syndrome	Delayed puberty, Brachycephaly, Short stature	OMIM:259050
Craniofacial Microsomia 1	Branchial anomaly, Occipital encephalocele, Microphthalmia, Anophthalmia	OMIM:164210
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia	OMIM:309800
Pulmonary Disease, Chronic Obstructive		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

Gross Morphology Embryo E14.5-E15.5

X-ray

MicroCT E18.5

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 21.0 Data