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Gene: C3 MGI:88227

Gene Summary

Name:

complement component 3

Synonyms:

complement factor 3, acylation stimulating protein, Plp

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

No results meet the p-value threshold

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	50% (1 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	50% (1 of 2)
Brainstem	N/A	heterozygote	50% (1 of 2)
Brown adipose tissue	N/A	heterozygote	50% (1 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Epididymis	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	50% (1 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	50% (1 of 2)
Lower urinary tract	N/A	heterozygote	Not available
Lung	N/A	heterozygote	50% (1 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Midbrain	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	Not available
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	50% (1 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Submandibular gland	N/A	heterozygote	50% (1 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thalamus	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	50% (1 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Urinary bladder	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
Vesicular gland	N/A	heterozygote	Not available
White adipose tissue	N/A	heterozygote	50% (1 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	0.0% (0 of 1)
Dorsal root ganglion	N/A	heterozygote	0.0% (0 of 1)
Ear	N/A	heterozygote	0.0% (0 of 1)
Embryo	N/A	heterozygote	100% (1 of 1)
Eye	N/A	heterozygote	0.0% (0 of 1)
Footplate	N/A	heterozygote	0.0% (0 of 1)
Forebrain	N/A	heterozygote	0.0% (0 of 1)
Forelimb	N/A	heterozygote	0.0% (0 of 1)
Fronto-nasal process	N/A	heterozygote	0.0% (0 of 1)
Handplate	N/A	heterozygote	0.0% (0 of 1)
Head	N/A	heterozygote	100% (1 of 1)
Heart	N/A	heterozygote	0.0% (0 of 1)
Hindbrain	N/A	heterozygote	0.0% (0 of 1)
Hindlimb	N/A	heterozygote	0.0% (0 of 1)
Liver	N/A	heterozygote	100% (1 of 1)
Lung	N/A	heterozygote	0.0% (0 of 1)
Mandibular process	N/A	heterozygote	0.0% (0 of 1)
Maxillary process	N/A	heterozygote	0.0% (0 of 1)
Midbrain	N/A	heterozygote	0.0% (0 of 1)
Nose	N/A	heterozygote	0.0% (0 of 1)
Oral cavity	N/A	heterozygote	0.0% (0 of 1)
Skin	N/A	heterozygote	0.0% (0 of 1)
Spinal cord	N/A	heterozygote	0.0% (0 of 1)
Tail somite	N/A	heterozygote	Not available
Tail	N/A	heterozygote	Not available

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
submandibular gland	0.0%
testis	0.0%
thalamus	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
urinary bladder
uterus	0.0%
vascular system	0.0%
vesicular gland	Unavailable
white adipose tissue	0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
brain	0.0%
dorsal root ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
fronto-nasal process	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%

4 Images

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Electroretinography

Cone waveform (pdf format)

4 Images

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Electroretinography

Rod waveform (pdf format)

4 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by C3 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 C3 (2 diseases)
Human diseases predicted to be associated with C3 (1241 diseases)

The table below shows human diseases associated to C3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Complement Component 3 Deficiency, Autosomal Recessive		Nephrotic syndrome, Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomeruloneph...	OMIM:613779
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5		Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur...	OMIM:612925

The table below shows human diseases predicted to be associated to C3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Immunodeficiency 34	Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis	OMIM:300645
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Human Coronavirus Sensitivity	Susceptibility to coronavirus 229e	OMIM:122460
Varicella, Severe Recurrent	Severe recurrent varicella	OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To	Tegumentary leishmaniasis susceptibility	OMIM:602068
Coxsackievirus B3 Susceptibility	Recurrent viral infections	OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation	Recurrent infections	OMIM:215518
Candidiasis, Familial, 4	Onychomycosis, Recurrent vulvovaginal candidiasis	OMIM:613108
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections	OMIM:308220
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo...	ORPHA:70592
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ...	OMIM:614372
Immunodeficiency 31B	Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis	OMIM:613796
Obesity Due To Melanocortin 4 Receptor Deficiency	Obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity...	ORPHA:71529
Immunodeficiency 31A	BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim...	OMIM:614892
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Recu...	OMIM:611521
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo...	OMIM:615861
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Recurre...	OMIM:613860
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Increased serum leptin, Obesity, Hyperinsulinemia, Hyperlipidemia, Polyphagia...	OMIM:617885
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency	Recurrent bacterial skin infections	ORPHA:183713
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis	OMIM:616126
Hyperinsulinism Due To Hnf1A Deficiency	Maturity-onset diabetes of the young, Large for gestational age, Excessive insulin response to gl...	ORPHA:324575
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant...	OMIM:617609
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Chondrocalcinosis 2	Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy	OMIM:118600
Obesity Due To Prohormone Convertase I Deficiency	Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ...	ORPHA:71526
Chondrocalcinosis 1	Chondrocalcinosis, Osteoarthritis	OMIM:600668
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Obesity, Polyphagia, Hyperinsulinemia	ORPHA:329249
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Recurrent respirat...	OMIM:300635
Immunodeficiency 116	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections	OMIM:608957
Glycoprotein Storage Disease	Gout	OMIM:232900
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Osteoarthritis Susceptibility 3	Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ...	OMIM:607850
Nephrotic Syndrome, Type 7	Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo...	OMIM:615008
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Increased total bilir...	OMIM:619868
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Gl...	ORPHA:567544
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S...	OMIM:620010
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph...	OMIM:308240
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,...	ORPHA:54370
Immunodeficiency, Common Variable, 5	Recurrent bacterial infections, Recurrent respiratory infections	OMIM:613495
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Podocyte foot process effacement, Proteinuria, Colitis, Nephro...	OMIM:617006
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Excess...	ORPHA:276575
Body Mass Index Quantitative Trait Locus 20	Polyphagia, Obesity, Hyperinsulinemia	OMIM:618406
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Large for gestational age, Excessiv...	ORPHA:276556
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Excess...	ORPHA:276580
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Acute myeloid leukemia, N...	ORPHA:158057
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:614196
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hyperammonemia, Hyperleucinemia, Decreased body weight, Polyphagia, Hypervalin...	OMIM:620085
Obesity And Hypopigmentation	Polyphagia, Obesity, Hyperinsulinemia	OMIM:620195
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a...	ORPHA:2457
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Transient Neonatal Diabetes Mellitus	Failure to thrive, Maturity-onset diabetes of the young, Umbilical hernia, Hyperglycemia, Transie...	ORPHA:99886
Hepatoportal Sclerosis	Hypersplenism, Hyperbilirubinemia, Jaundice, Esophageal varix, Gastrointestinal hemorrhage, Intra...	ORPHA:64743
Indolent Systemic Mastocytosis	Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Splenomega...	ORPHA:98848
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Elevated total serum tryptase, Decreased liver function...	ORPHA:98850
Leptin Deficiency Or Dysfunction	Hypogonadism, Polyphagia, Obesity, Decreased serum leptin	OMIM:614962
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Hyp...	OMIM:603552
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent viral infections, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD4-pos...	ORPHA:572
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Hepatic...	OMIM:618400
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con...	OMIM:619874
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis, Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic sy...	OMIM:608709
Obesity Due To Sim1 Deficiency	Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit hyperactivity disorder	ORPHA:369873
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatit...	OMIM:620632
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:613913
Type 1 Diabetes Mellitus	Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ...	OMIM:222100
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomeruloneph...	OMIM:613779
Mhc Class Ii Deficiency 1	Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron...	OMIM:209920
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha...	ORPHA:444463
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
Macrophage Activation Syndrome	Hemophagocytosis, Elevated circulating alanine aminotransferase concentration, Neutropenia, Hepat...	ORPHA:158061
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Immunodeficiency 50	Eczematoid dermatitis, Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent re...	OMIM:300988
Complement Factor B Deficiency	Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, ...	OMIM:308230
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr...	OMIM:237800
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Recurrent respiratory infections, Pancytopenia, Splenomegaly, Follicular hyperplasia, I...	OMIM:614470
Immunodeficiency 51	Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Recurrent otitis media, Recu...	OMIM:613953
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress...	OMIM:614963
Crigler-Najjar Syndrome, Type Ii	Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa...	OMIM:606785
Graves Disease	Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula...	OMIM:275000
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane...	OMIM:615285
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Enlarged joints	ORPHA:50809
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Hepatitis, Failure to thrive sec...	ORPHA:169160
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami...	OMIM:614480
Immunodeficiency 61	Recurrent otitis media, Recurrent respiratory infections, Recurrent sinusitis, Recurrent bacteria...	OMIM:300310
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d...	OMIM:214900
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis	OMIM:314000
Hemochromatosis, Type 3	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:604250
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona...	ORPHA:79234
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Obesity, Adrenal insufficiency, Hyperbilir...	OMIM:609734
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat...	OMIM:278000
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Micronodular cirrhosis, Hepatic periporta...	ORPHA:139507
C1Q Deficiency 1	Membranoproliferative glomerulonephritis	OMIM:613652
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Recurre...	ORPHA:167
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Autoimmunity, Arthritis	OMIM:216950
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypermethioninemia	OMIM:606664
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Protein-losing enteropathy, Recurrent otiti...	OMIM:613502
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Recurrent viral infections, Increased circulating IgE level, I...	OMIM:620565
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Hepatomegaly, ...	ORPHA:540
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Conjuncti...	OMIM:607594
Proprotein Convertase 1/3 Deficiency	Diarrhea, Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Decrease...	OMIM:600955
X-Linked Agammaglobulinemia	Recurrent pneumonia, Sepsis, Hepatitis, Conjunctivitis, Osteomyelitis, Hypocalcemia, Skin rash, A...	ORPHA:47
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Immunodeficiency 84	Recurrent bacterial infections, Persistent EBV viremia	OMIM:619437
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	OMIM:616860
Bardet-Biedl Syndrome 22	Hypogonadism, Polyphagia, Obesity, Large for gestational age	OMIM:617119
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Conjunctivitis, Impa...	OMIM:240500
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Elevated circulating hepatic trans...	ORPHA:100093
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent mycobacterial infections, Recurrent Klebsiella infections, Recurrent candida infections...	ORPHA:319552
Cystic Echinococcosis	Cholestatic liver disease, Unusual infection, Elevated gamma-glutamyltransferase level, Elevated ...	ORPHA:400
Immunodeficiency 27B	Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections	OMIM:615978
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis	OMIM:615612
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ...	ORPHA:293964
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice	OMIM:179700
Rotor Syndrome	Hyperbilirubinemia, Abnormal circulating enzyme concentration or activity, Intermittent jaundice,...	ORPHA:3111
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Spider hema...	ORPHA:2137
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hematochezia, Hepatitis, El...	OMIM:613812
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Autosomal Agammaglobulinemia	Sepsis, Bronchiectasis, Hepatitis, Recurrent respiratory infections, Conjunctivitis, Osteomyeliti...	ORPHA:33110
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections, Meningitis, Recurren...	OMIM:613500
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Vomiting, Diarrhea, Failure to thrive, Decreased cir...	ORPHA:71212
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva...	OMIM:615395
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro...	OMIM:231100
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St...	ORPHA:656
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu...	OMIM:613501
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Glomerulonephritis	OMIM:247800
Angel-Shaped Phalangoepiphyseal Dysplasia	Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib...	OMIM:105835
Crigler-Najjar Syndrome, Type I	Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia	OMIM:218800
Glycogen Storage Disease Vi	Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceri...	OMIM:232700
Hypercholanemia, Familial, 2	Prolonged neonatal jaundice, Osteopenia, Unconjugated hyperbilirubinemia, Increased serum bile ac...	OMIM:619256
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
Trimethylaminuria	Recurrent pneumonia, Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension	OMIM:602079
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Opportunistic bacterial infection, Pancytopenia, Abnormal T cell subset distrib...	ORPHA:158048
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, In...	ORPHA:247598
Short Stature Due To Ghsr Deficiency	Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro...	ORPHA:314811
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis, Reduced delayed hypersensit...	OMIM:607624
Dubin-Johnson Syndrome	Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality	OMIM:237500
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Edinburgh Malformation Syndrome	Jaundice, Neonatal hyperbilirubinemia	OMIM:129850
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Hepatosplenomegaly, Chilblains, Intestinal inflammat...	OMIM:619858
Systemic Lupus Erythematosus 16	Lupus nephritis	OMIM:614420
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ...	ORPHA:329918
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Systemic Mastocytosis With Associated Hematologic Neoplasm	Chronic lymphatic leukemia, Acute myeloid leukemia, Neutrophilia, Hepatomegaly, Tachycardia, Myel...	ORPHA:98849
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Obesity, Motor stereotypy	OMIM:613886
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Meningitis, Chronic otitis media, Opportunistic infection, Eczematoid derm...	ORPHA:83471
Immunodeficiency With Hyper-Igm, Type 2	Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infection of the gast...	OMIM:605258
Temple Syndrome	Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test...	ORPHA:254516
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal...	ORPHA:276
Graft Versus Host Disease	Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, E...	ORPHA:39812
Immunodeficiency 32B	Recurrent infections, Hypoalbuminemia, Pneumonia, BCGitis, Impaired oxidative burst, Abnormal cir...	OMIM:226990
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A...	ORPHA:37042
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o...	OMIM:619802
Citrullinemia, Type Ii, Neonatal-Onset	Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Hyperthreoninemia, Elevated circula...	OMIM:605814
Kienbock Disease	Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis	ORPHA:97332
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration...	OMIM:614300
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Eczematoid dermatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c...	OMIM:304790
Crigler-Najjar Syndrome Type 2	Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia	ORPHA:79235
Neutropenia, Chronic Familial	Periodontitis, Neutropenia, Increased circulating antibody level	OMIM:162700
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Congenital Enterovirus Infection	Hypoalbuminemia, Hepatic failure, Sepsis, Hypotension, Hepatitis, Cardiomyopathy, Cholestasis, Le...	ORPHA:292
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Leukopenia, Spl...	ORPHA:381
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Cholestasi...	OMIM:619662
Harderoporphyria	Increased fecal harderoporphyrin, Neonatal hyperbilirubinemia, Increased circulating ferritin con...	OMIM:618892
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent lower respiratory tr...	OMIM:301082
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple...	ORPHA:169154
Caroli Syndrome	Hypersplenism, Hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration, Conge...	ORPHA:480520
Hepatitis Delta	Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho...	ORPHA:402823
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i...	ORPHA:79085
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase...	OMIM:618660
Combined Oxidative Phosphorylation Deficiency 52	Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hyper...	OMIM:619386
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Confusion, Mental deterioration, Herpes simplex encephalitis, Meningitis	OMIM:617900
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:618176
Relapsing Fever	Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Increased circul...	ORPHA:91547
Wolcott-Rallison Syndrome	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	ORPHA:1667
Nephrotic Syndrome, Type 24	Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic...	OMIM:619263
Primary Biliary Cholangitis	Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosphatase concentration...	ORPHA:186
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Increased total bilirubin, Hepatomegaly, Po...	ORPHA:2924
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Whim Syndrome 2	Severe infection, Recurrent gingivitis, Chronic neutropenia	OMIM:619407
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne...	OMIM:618986
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Recurrent respiratory infections, Panhypogammaglobulinemia, Ag...	OMIM:615214
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:613944
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir...	OMIM:210500
Hepatic Veno-Occlusive Disease	Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Increased total ...	ORPHA:890
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Reduced natural killer cell activity, Jaundic...	OMIM:603553
Avian Influenza	Hypoalbuminemia, Pneumonia, Myelitis, Sepsis, Increased circulating lactate dehydrogenase concent...	ORPHA:454836
Hyperbilirubinemia, Rotor Type	Jaundice, Conjugated hyperbilirubinemia	OMIM:237450
Obesity	Decreased resting energy expenditure, Obesity, Increased waist to hip ratio	OMIM:601665
Liver Failure, Infantile, Transient	Hypoalbuminemia, Decreased circulating IgG level, Elevated circulating hepatic transaminase conce...	OMIM:613070
Malaria	Anemia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia	ORPHA:673
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Persistent CMV viremia, Fluctuating splenomegaly, Increased circulating IgG level, Recurrent otit...	OMIM:619220
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Recurrent infections, Neutropenia	OMIM:617014
Glycogen Storage Disease Vii	Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Increased muscle glyco...	OMIM:232800
14Q11.2 Microduplication Syndrome	Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavior	ORPHA:261229
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Pneumocystis jirovecii pneumonia, Decreased circulating IgG level, H...	OMIM:301078
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Huntington Disease	Decreased body mass index, Abnormal circulating cholesterol concentration, Oral-pharyngeal dyspha...	ORPHA:399
Jaundice, Familial Obstructive, Of Infancy	Jaundice, Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Jaundice, Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Jaundice, Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Neutropenia, Recur...	OMIM:193670
Bacterial Toxic-Shock Syndrome	Abscess, Glomerulonephritis, Meningitis, Tachycardia, Recurrent skin infections, Shock, Elevated ...	ORPHA:36234
Immunodeficiency 83, Susceptibility To Viral Infections	Confusion, Mental deterioration, Herpes simplex encephalitis, Meningitis	OMIM:613002
Actinic Prurigo	Pyoderma, Cheilitis, Glomerulonephritis	OMIM:174770
Infantile Sialic Acid Storage Disease	Osteopenia, Congestive heart failure, Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, High pa...	OMIM:269920
Immunodeficiency 53	Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent urinary tract infect...	OMIM:617585
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Membranous nephropath...	OMIM:618999
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Insuli...	ORPHA:435660
Parenteral Nutrition-Associated Cholestasis	Elevated gamma-glutamyltransferase level, Cholelithiasis, Hepatic fibrosis, Hepatic failure, Elev...	ORPHA:567983
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec...	OMIM:243150
Gilbert Syndrome	Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration, Unconjugated ...	OMIM:143500
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Lipodystrophy, Hypertriglyceridemia, Increased C-peptide level, Decr...	OMIM:615238
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent viral infections, Recurrent enteroviral infections, Lymphadenitis, Lymphopenia, Hepatos...	ORPHA:331206
Pick Disease Of Brain	Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition	OMIM:172700
Immunodeficiency 33	Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc...	OMIM:300636
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage...	ORPHA:567548
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre...	ORPHA:183675
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Elevated circulating alkaline phosphatase concentration, ...	OMIM:601847
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorrhage, Splenomeg...	ORPHA:294
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Gastroesophageal reflux, Hepa...	OMIM:201475
Patent Ductus Venosus	Persistent patent ductus venosus, Decreased liver function, Congenital portosystemic venous shunt...	OMIM:601466
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Cholelithiasis, Epistaxis, Rickets, Splenomegaly, Cirrhosis, Intrahepatic cholestasis...	OMIM:211600
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Mody	Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-...	ORPHA:552
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insufficiency, Abnor...	OMIM:618752
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Adult-Onset Still Disease	Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ...	ORPHA:829
Intellectual Developmental Disorder, Autosomal Dominant 39	Polyphagia, Obesity, Aggressive behavior, Self-mutilation	OMIM:616521
Immunodeficiency 46	Sepsis, Conjunctivitis, Intermittent thrombocytopenia, Recurrent sinopulmonary infections, Neutro...	OMIM:616740
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Hypogonadism, Small placenta, Intrauterine growth retardation, Short attention span, Attention de...	ORPHA:73272
Hemochromatosis, Type 4	Cardiomyopathy, Increased circulating ferritin concentration, Hepatic steatosis, Anemia, Cirrhosi...	OMIM:606069
C1Q Deficiency 3	Discoid lupus rash, Antinuclear antibody positivity, Recurrent bacterial meningitis, Neonatal omp...	OMIM:620322
Hematuria, Benign Familial, 2	Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria	OMIM:620320
Neutrophilia, Hereditary	Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia	OMIM:162830
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elev...	OMIM:618805
Secondary Short Bowel Syndrome	Diarrhea, Vomiting, Failure to thrive, Central hypothyroidism, Primary hypothyroidism, Polyphagia...	ORPHA:95427
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Abnormal hemoglobin, S...	ORPHA:848
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Elevated circulating aspartate aminotransferase concentration, Decrease...	OMIM:619048
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H...	OMIM:620211
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections	OMIM:616873
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent...	OMIM:245480
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Inc...	OMIM:243700
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:620357
Complement Component 4A Deficiency	Glomerulonephritis	OMIM:614380
Aspergillosis	Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Increased circulating IgE level, Invasive...	ORPHA:1163
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Atriov...	ORPHA:398124
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:616730
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Immunodeficiency 7	Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegal...	OMIM:615387
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c...	OMIM:611182
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Recurrent bronchopulmonary infections, Decreased circulating total IgM, Neutropenia	OMIM:610798
Immunodeficiency 56	Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Hepatic failure, Recurrent respiratory inf...	OMIM:615207
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Prader-Willi Syndrome Due To Imprinting Mutation	Hypogonadotropic hypogonadism, Obesity, Polyphagia	ORPHA:177910
Kleine-Levin Syndrome	Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ...	ORPHA:33543
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Splenomegaly, Hyperammonemia, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia...	ORPHA:79312
Bile Acid Conjugation Defect 1	Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated...	OMIM:619232
Agammaglobulinemia, X-Linked	Enteroviral dermatomyositis syndrome, Recurrent otitis media, Lymph node hypoplasia, Prostatitis,...	OMIM:300755
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Sepsis, Hyperammonemia, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomegaly	ORPHA:289916
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C...	OMIM:620449
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circ...	ORPHA:263458
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat...	ORPHA:79477
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyp...	OMIM:611881
Schaaf-Yang Syndrome	Gastroesophageal reflux, Failure to thrive in infancy, Hypogonadism, Obesity, Polyphagia, Skin-pi...	OMIM:615547
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema...	OMIM:613237
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Aborted sudden cardiac death, Elevated circulating hepatic transaminase...	OMIM:614921
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Congestive heart failure, Increased LDL cholesterol conc...	OMIM:615703
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent fungal infec...	ORPHA:2688
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis	OMIM:613783
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Polycystic liver disease, Elevated circulating alkaline phosphatase concentration, Increased tota...	OMIM:174050
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissu...	ORPHA:280356
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency	OMIM:607832
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Hematochezia, Elevated circulating hepatic transaminase concentration, Lymphade...	OMIM:615895
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in...	ORPHA:562639
Complement Component 5 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:609536
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cardi...	ORPHA:264580
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product...	OMIM:613673
Felty Syndrome	Synovitis, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, Abnormal lymph...	ORPHA:47612
Renal Glucosuria	Polyphagia, Polydipsia, Glycosuria	OMIM:233100
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies	OMIM:614164
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Recurrent bronchopulmonary infections, Neutropenia	ORPHA:90023
Crigler-Najjar Syndrome	Memory impairment, Cognitive impairment, Infectious encephalitis	ORPHA:205
Sepsis In Premature Infants	Neutropenia, Elevated circulating C-reactive protein concentration, Jaundice, Hepatomegaly, Menin...	ORPHA:90051
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Placental Insufficiency	Abnormal umbilical cord blood vessel morphology, Systemic lupus erythematosus, Small placenta, In...	ORPHA:439167
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Increased circulati...	OMIM:619644
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Hypotonia-Cystinuria Syndrome	Polyphagia, Failure to thrive	ORPHA:163690
Renal Failure, Progressive, With Hypertension	Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria	OMIM:161900
Lipoyltransferase 1 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota...	OMIM:616299
Lipase Deficiency, Combined	Lipodystrophy, Type II diabetes mellitus, Hypertriglyceridemia	OMIM:246650
Caroli Disease	Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Cholelithiasis, Hepatic fibro...	ORPHA:53035
Focal Segmental Glomerulosclerosis 6	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr...	OMIM:614131
Silver-Russell Syndrome Due To A Point Mutation	Small placenta, Intrauterine growth retardation, Oligohydramnios, Dysmenorrhea, Attention deficit...	ORPHA:397590
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Vomiting, Diarrhea, Hypoglycemia, Hypophosphatemia, ...	OMIM:605911
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi...	OMIM:266200
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ...	ORPHA:905
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co...	ORPHA:3202
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney dis...	OMIM:614377
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr...	ORPHA:369840
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous ad...	ORPHA:435651
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi...	ORPHA:436159
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami...	OMIM:613313
Nail-Patella-Like Renal Disease	Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria	ORPHA:2613
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Atrial ...	OMIM:613327
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:615573
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r...	OMIM:620049
Legionnaires Disease	Bone marrow hypocellularity, Hypotension, Sepsis, Hepatitis, Lymphopenia, Splenomegaly, Infectiou...	ORPHA:549
Hypotonia-Cystinuria Syndrome	Failure to thrive, Decreased response to growth hormone stimulation test, Hypocalcemia, Polyphagi...	OMIM:606407
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Elevated circulating creatinine concentration, Pancytopenia, Hepatic steatosis, ...	OMIM:617872
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch...	OMIM:614868
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Recurrent viral infections, Cholestasis, Lymphopenia, D...	OMIM:619573
Pgm3-Cdg	Allergic rhinitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Increased circulating IgE ...	ORPHA:443811
Hepatocellular Carcinoma	Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma	OMIM:114550
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hepa...	OMIM:619013
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al...	ORPHA:33402
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Crescentic glomerulonephritis, Mesangial hypercellularity, Arthritis	OMIM:616414
Shwachman-Diamond Syndrome	Recurrent viral infections, Aplastic anemia, Pancytopenia, Increased serum bile acid concentratio...	ORPHA:811
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Splenomegaly, Reticulocytos...	OMIM:235700
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Poikiloderma With Neutropenia	Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, Recurrent otitis ...	OMIM:604173
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat...	OMIM:616433
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Inflammation of the large intestine, Recurrent otitis media, Increased circulating IgE level, Abn...	ORPHA:98813
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circulating inter...	ORPHA:391487
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,...	OMIM:612783
Immunodeficiency 67	Recurrent staphylococcal infections, Abnormal T cell count, Abnormal natural killer cell count, I...	OMIM:607676
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	ORPHA:26791
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:600649
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Vomiting, Diarrhea, Failure to thrive, Hypoketotic h...	OMIM:610768
Lipodystrophy, Congenital Generalized, Type 1	Umbilical hernia, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Polyphagia, Lipodystroph...	OMIM:608594
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Hyperspl...	ORPHA:228426
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess...	OMIM:150550
Megaloblastic Anemia, Folate-Responsive	Increased circulating lactate dehydrogenase concentration, Hypersegmentation of neutrophil nuclei...	OMIM:601775
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Nephritis, Congestive ...	OMIM:617303
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat...	OMIM:603471
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Recurrent viral infections, Lymphopenia, Lymph node hypoplasia, Recurrent lower res...	OMIM:613179
Bardet-Biedl Syndrome 9	Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity	OMIM:615986
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes...	OMIM:208250
Frontotemporal Dementia	Polyphagia, Inappropriate laughter, Disinhibition	OMIM:600274
D-Glyceric Aciduria	Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia	ORPHA:941
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Polyphagia, Obesity, Inappropriate laughter, Hyperactivity	ORPHA:411515
Asherman Syndrome	Abnormality of the menstrual cycle, Chronic infection, Metrorrhagia, Dysmenorrhea, Decreased fert...	ORPHA:137686
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	ORPHA:99901
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Cardiomyopathy, Congestive heart failure, Hypertro...	OMIM:212140
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, S...	ORPHA:397596
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections	OMIM:608106
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Obesity, Hypoketotic hypoglycemia, Hypocalcemia, Hyp...	ORPHA:26793
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o...	ORPHA:911
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyp...	OMIM:601820
Glutathione Synthetase Deficiency	Hemolytic anemia, Reduced glutathione synthetase level, Neutropenia	OMIM:266130
Sickle Cell Anemia	Hypochromic anemia, Persistence of hemoglobin F, Microcytic anemia, Abnormality of the spleen, Un...	ORPHA:232
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Increased circulating lactate dehydrogenase concentration, E...	OMIM:224120
Postinfectious Vasculitis	Inflammatory abnormality of the skin, Increased circulating antibody level, Increased circulating...	ORPHA:48435
Complement Component 4B Deficiency	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Menin...	OMIM:614379
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Sepsis, Hepatitis, Lymphopenia, Leukopenia, Increased circulating an...	ORPHA:319218
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Hepatomegaly, Meningitis, Endocarditis,...	ORPHA:781
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent Haemophilus influenzae infections, Recurrent bronchitis	OMIM:300455
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Osteomalacia, Recurrent otit...	OMIM:619381
Propionic Acidemia	Eczematoid dermatitis, Cardiomyopathy, Pancytopenia, Propionyl-CoA carboxylase deficiency, Hyperg...	OMIM:606054
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233710
Omenn Syndrome	Pneumonia, Severe B lymphocytopenia, Recurrent viral infections, Splenomegaly, Hepatomegaly, Hypo...	OMIM:603554
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Hepatomegaly, ...	OMIM:614376
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,...	OMIM:604367
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s...	OMIM:616893
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, Increased circulating IgE level, Hepatosplenomegaly, Decreased CD4:CD...	OMIM:606367
Glycogen Storage Disease Ib	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Red...	OMIM:232220
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:98870
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Recurrent viral infections, Abnormal circulating IgM leve...	OMIM:618048
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Recurrent infec...	OMIM:616098
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ...	OMIM:613490
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninemia, Elevated circulating propionylcarnitine concentration, Decreased methionine syn...	OMIM:277380
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Cleft palate, Abnormal mast cell morphology	ORPHA:398189
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated circulating hepatic transaminase concentration, Reduced circulating acyl-CoA oxidase act...	OMIM:264470
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:161950
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ...	OMIM:613280
Autoimmune Lymphoproliferative Syndrome	Vasculitis, Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Follicular h...	OMIM:601859
Zika Virus Disease	Myelitis, Intrauterine growth retardation, Skin rash, Infectious encephalitis, Meningitis, Arthri...	ORPHA:448237
Immunodeficiency With Hyper-Igm, Type 4	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection...	OMIM:608184
Pearson Marrow-Pancreas Syndrome	Hypoplastic anemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exo...	OMIM:557000
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Reynolds Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir...	OMIM:613471
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent Klebsiella infections, Recurrent pneumonia, Lymphadenitis, Eczemato...	OMIM:233690
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Abnormal circu...	ORPHA:42
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:618348
Lipodystrophy, Congenital Generalized, Type 2	Umbilical hernia, Hyperinsulinemia, Elevated hemoglobin A1c, Type II diabetes mellitus, Reduced s...	OMIM:269700
Cyclic Neutropenia	Cyclic neutropenia	OMIM:162800
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Osteopenia, Recurrent viral infections, Aplastic anemia, Leukemia, Periodontitis, Lymp...	ORPHA:486
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Hepatic fibr...	OMIM:617093
Immunodeficiency 23	Allergic rhinitis, Molluscum contagiosum, Lymphopenia, Increased circulating IgE level, Abscess, ...	OMIM:615816
Dubin-Johnson Syndrome	Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, Hepatome...	ORPHA:234
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Septic arthritis, Recurrent enteroviral infections, Conjunctivi...	OMIM:307200
Carnitine-Acylcarnitine Translocase Deficiency	Reduced tissue carnitine-acylcarnitine translocase activity, Hypotension, Elevated circulating he...	OMIM:212138
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Renal insufficiency, Scleri...	ORPHA:93126
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Recurrent otitis media, Molluscum contagiosum, Hepatosplenomegaly, I...	OMIM:618982
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Peripheral Dysostosis	Hip osteoarthritis	OMIM:170700
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Spontaneous...	OMIM:214500
Cernunnos-Xlf Deficiency	Recurrent viral infections, Lymphopenia, Decreased circulating antibody level, Anemia, Thrombocyt...	ORPHA:169079
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hypocalcemia, Hypercholesterolemia, Hypertri...	OMIM:612526
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic steatosis, Cardiomyopathy	ORPHA:26792
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent...	ORPHA:542323
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
New-Onset Refractory Status Epilepticus	Confusion, Autoimmunity, Cognitive impairment, Infectious encephalitis	ORPHA:363558
Yellow Fever	Pancreatic hyperplasia, Hyperbilirubinemia, Elevated circulating alanine aminotransferase concent...	ORPHA:99829
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, C...	ORPHA:60
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Decreased methionine synthase activity, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystine...	OMIM:250940
Leukocyte Adhesion Deficiency, Type Iii	Epistaxis, Sepsis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomega...	OMIM:612840
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Bradycardia, Prolo...	ORPHA:95717
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie...	ORPHA:98793
X-Linked Acrogigantism	Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop...	ORPHA:300373
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Gastroesophageal reflux, Elevated circulating propionylcarnitine concentration, Decreased methion...	OMIM:614857
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula...	OMIM:194380
Cholestasis, Benign Recurrent Intrahepatic, 1	Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles...	OMIM:243300
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters...	ORPHA:139402
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Gastroesophageal reflux, Hepatitis, Pancytopenia, Hypersplenism, Portal hypertension, Splenomegal...	OMIM:613385
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk...	ORPHA:411593
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Hyperbilirubinemia, Spleno...	OMIM:185000
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Skin rash, Proteinuria, Hematuria, Hep...	OMIM:105200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, I...	OMIM:608836
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Unconjugated hyperbilirubinemia, Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz...	OMIM:300908
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie...	ORPHA:177904
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Chronic infectio...	ORPHA:231226
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie...	ORPHA:98754
Cog7-Cdg	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Elevated circulating...	ORPHA:79333
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Abnormal circulating I...	OMIM:620376
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Polyphagia, Paroxysmal bursts of laughter, Constipation, Hyperactivity, ...	ORPHA:228402
6Q16 Microdeletion Syndrome	Abnormal temper tantrums, Polyphagia, Obesity	ORPHA:171829
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Cleft so...	OMIM:301068
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie...	ORPHA:177901
Whipple Disease	Uveitis, Depression, Polydipsia, Splenomegaly, Infectious encephalitis, Myositis, Anemia, Arthrit...	ORPHA:3452
Immunodeficiency 21	Reduced natural killer cell count, Recurrent viral infections, Recurrent mycobacterium avium comp...	OMIM:614172
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection...	ORPHA:2643
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete...	ORPHA:453533
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni...	OMIM:619752
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect...	OMIM:616005
Rh Deficiency Syndrome	Stomatocytosis, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Hy...	ORPHA:71275
Joubert Syndrome 10	Polyphagia, Obesity, Frequent temper tantrums, Decreased body weight	OMIM:300804
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Sepsis, Hepatic failure, Elevated circulating hepatic transaminase concentration,...	OMIM:614886
Cyclic Neutropenia	Recurrent tonsillitis, Sepsis, Opportunistic infection, Periodontitis, Cervical lymphadenopathy, ...	ORPHA:2686
Specific Granule Deficiency 2	Osteopenia, Recurrent pneumonia, Sepsis, Recurrent otitis media, Absent neutrophil specific granu...	OMIM:617475
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic necrosis, Fulminant hepatic failure,...	OMIM:231530
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Osteopenia, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension,...	OMIM:610199
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni...	OMIM:603909
Coenzyme Q10 Deficiency, Primary, 6	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:614650
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph...	ORPHA:54251
Athrombia, Essential	Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation	OMIM:209050
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Recurrent respiratory infections, Hepatocellular necrosis, Hepat...	OMIM:618278
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia, Recurrent infe...	OMIM:229050
Systemic Lupus Erythematosus	Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis	OMIM:152700
Melioidosis	Pneumonia, Unusual skin infection, Brain abscess, Hepatitis, Sepsis, Cutaneous abscess, Shock, Ab...	ORPHA:31202
Familial Calcium Pyrophosphate Deposition	Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Joint swelling, Arthritis, Os...	ORPHA:1416
Complement Component 8 Deficiency, Type I	Meningitis, Systemic lupus erythematosus	OMIM:613790
Combined Oxidative Phosphorylation Deficiency 9	Elevated gamma-glutamyltransferase level, Hypertrophic cardiomyopathy, Elevated circulating aspar...	OMIM:614582
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Conjugated hyperbi...	ORPHA:95715
Aicardi-Goutieres Syndrome 7	Pancytopenia, Hepatic steatosis, Chilblains, Increased circulating antibody level, Hepatomegaly, ...	OMIM:615846
Neonatal Alloimmune Neutropenia	Pneumonia, Sepsis, Jaundice, Severe infection, Neutropenia in presence of anti-neutropil antibodi...	ORPHA:464370
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Splenomegaly, Thyroiditis	OMIM:619375
Lathosterolosis	Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Hepatic fibrosis, Elevated ci...	OMIM:607330
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hyperammonemia, C...	OMIM:617049
Lyme Disease	Memory impairment, Infectious encephalitis, Arthritis, Meningitis, Uveitis	ORPHA:91546
Poliomyelitis	Myelitis, Confusion, Irritability, Infectious encephalitis, Dysphagia, Anorexia, Meningitis, Fati...	ORPHA:2912
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Lipodystrophy, Familial Partial, Type 6	Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, Elevated circulating...	OMIM:615980
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ...	OMIM:610984
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Nephrotic Syndrome, Type 12	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616892
Sjogren Syndrome	Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca	OMIM:270150
Cerebral Visual Impairment	Unusual CNS infection, Short attention span, Infectious encephalitis, Attention deficit hyperacti...	ORPHA:447788
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Leukopenia, Hyperglycinemia, Hyperammonemia, Cerebellar hemorrhage, Pancreatitis,...	OMIM:251000
Interstitial Nephritis, Karyomegalic	Elevated circulating hepatic transaminase concentration, Nephronophthisis, Renal tubular cyst, Gl...	OMIM:614817
Intellectual Developmental Disorder, Autosomal Dominant 72	Attention deficit hyperactivity disorder, Polyphagia, Obesity, Overfriendliness	OMIM:620439
Pfapa Syndrome	Recurrent pharyngitis, Splenomegaly, Arthritis, Infectious encephalitis	ORPHA:42642
Glanzmann Thrombasthenia 2	Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet...	OMIM:619267
Mastocytosis, Cutaneous	Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans	OMIM:154800
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Giant cell hepatitis, Elevat...	OMIM:208085
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent...	ORPHA:69665
Wilson Disease	Hypouricemia, Osteomalacia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhos...	OMIM:277900
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias	OMIM:619428
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur...	OMIM:620536
Methylmalonic Acidemia With Homocystinuria Type Cblf	Elevated circulating palmitoleylcarnitine concentration, Skin rash, Reduced number of intrahepati...	ORPHA:79284
Lysinuric Protein Intolerance	Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, I...	ORPHA:470
Leishmaniasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni...	ORPHA:507
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomyopathy, ...	ORPHA:98907
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1	Recurrent herpes, Herpes simplex encephalitis	OMIM:610551
Pediatric-Onset Graves Disease	Diarrhea, Graves disease, Failure to thrive, Polydipsia, Goiter, Puberty and gonadal disorders, I...	ORPHA:525731
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Osteopenia, Elevated circulating hepatic transaminase concentr...	ORPHA:14
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis...	OMIM:615438
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Osteopenia, Portal fibrosis, Elevated circulating hepatic transaminase concentr...	ORPHA:369
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, Anemia, Recurren...	OMIM:617056
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	Intrauterine growth retardation, Viral encephalitis	OMIM:619441
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, Hepatomegaly	OMIM:238970
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Limitation of joint mobility, Polyarticular arthritis, Progressive joint destruction,...	ORPHA:85435
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Neutropenia, Hepatomegaly, Recurrent lower...	OMIM:612541
Proteinuria, Chronic Benign	Proteinuria, Albuminuria, Renal insufficiency	OMIM:618884
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Park...	OMIM:619705
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Abnormality of the liver, Pancytopenia, Macrocytic anemia, Hyp...	ORPHA:2169
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Decreased methylmalonyl-CoA mutase activity, Elevated circulating propion...	OMIM:251110
Heme Oxygenase 1 Deficiency	Epistaxis, Diffuse alveolar hemorrhage, Sepsis, Increased circulating lactate dehydrogenase conce...	OMIM:614034
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Pustule, Neutropenia, Hepatomegaly, Meningitis, Elevated circulat...	ORPHA:50918
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Recurrent upper respiratory tract infections, Eczematoid dermatitis, Celiac disease, Exocrine pan...	OMIM:615952
Felty Syndrome	Rheumatoid arthritis	OMIM:134750
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Recurrent viral infections, Inflammatory abnormality of the skin, Increased circulating IgE level...	OMIM:102700
Cryoglobulinemic Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, ...	ORPHA:91138
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ...	ORPHA:275
Nipah Virus Disease	Recurrent pharyngitis, Infectious encephalitis, Anorexia	ORPHA:99825
Senior-Boichis Syndrome	Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami...	ORPHA:84081
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Cutaneous mastocytosis, High palate	OMIM:248910
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:600995
Listeriosis	Arteritis, Abscess, Pustule, Meningitis, Endocarditis, Unusual CNS infection, Unusual skin infect...	ORPHA:533
Combined Oxidative Phosphorylation Deficiency 21	Hyperprolinemia, Hyperalaninemia, Hepatic steatosis	OMIM:615918
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis, Hypertriglyceridemia	ORPHA:436182
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Panuveitis, Cerebral hemorrhage, Hepatosplenomegaly, Osteomyelit...	OMIM:301081
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbil...	OMIM:619685
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Cholestasis...	OMIM:615710
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Gastrointestina...	ORPHA:298
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Recurrent respiratory infections, Hepatitis	ORPHA:363523
Neutropenia, Severe Congenital, X-Linked	Eczematoid dermatitis, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia, Recurrent bacterial i...	OMIM:300299
Granulomatous Disease, Chronic, X-Linked	Recurrent Klebsiella infections, Lymphadenitis, Hepatomegaly, Discoid lupus rash, Granuloma, Ecze...	OMIM:306400
Hermansky-Pudlak Syndrome 2	Recurrent pneumonia, Reduced natural killer cell count, Gastroesophageal reflux, Enlarged platele...	OMIM:608233
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Acquired Partial Lipodystrophy	Lymphocytosis, Hepatic steatosis	ORPHA:79087
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card...	ORPHA:464321
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Osteoarthritis	OMIM:271600
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Thymoma, Biliary cirrhosis, Ap...	ORPHA:227990
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Abnormal erythrocyte morphology, Con...	ORPHA:288
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level	OMIM:619549
Ddost-Cdg	Osteopenia, Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Hep...	ORPHA:300536
Gm1 Gangliosidosis	Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Oral aversion, Infectious encephalitis, C...	ORPHA:354
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hyperl...	OMIM:232400
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia...	OMIM:610725
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Villous atrophy, Cirrhosis, Chronic hepatitis, Hepatome...	OMIM:614602
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Minimal change glomerulonephritis, Abnormal proportion of naive CD4 ...	ORPHA:1830
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Cholestasis, Benign Recurrent Intrahepatic, 2	Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration...	OMIM:605479
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7	Herpes simplex encephalitis	OMIM:616532
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cardiomyopathy, Congestive heart failure, Hepatic steatosis, Elevated circulating alkaline phosph...	ORPHA:52430
Von Willebrand Disease, X-Linked Form	Prolonged bleeding time	OMIM:314560
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti...	ORPHA:79124
Dpm1-Cdg	High, narrow palate, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, H...	ORPHA:79322
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenom...	OMIM:615122
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch...	ORPHA:79301
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	OMIM:613404
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero...	OMIM:256370
Prader-Willi Syndrome	Precocious puberty, Self-injurious behavior, Class III obesity, Decreased HDL cholesterol concent...	OMIM:176270
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Hypertrophic ca...	OMIM:615471
Familial Thyroid Dyshormonogenesis	Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin concentration, Delayed proximal f...	ORPHA:95716
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Gastroesophageal reflux, Decreased liver function, Congestive heart failure, Hypertrophic cardiom...	ORPHA:70472
Sim1-Related Prader-Willi-Like Syndrome	Premature adrenarche, Precocious puberty, Small pituitary gland, Abnormal temper tantrums, Xerost...	ORPHA:398079
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir...	OMIM:619463
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Pancytop...	OMIM:259720
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Hepatic fibrosis, Hypoalbuminemia, Elevated circulating hepatic transaminase ...	OMIM:619487
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia, Arrhythmia, Neutropenia	OMIM:616949
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Granuloma, Eczemat...	OMIM:618935
Fusariosis	Abnormality of the spleen, Lymphopenia, Neutropenia, Unusual CNS infection, Granuloma, Osteomyeli...	ORPHA:228119
Chromosome Xq26.3 Duplication Syndrome	Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, El...	OMIM:300942
Vici Syndrome	Recurrent viral infections, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Neu...	OMIM:242840
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Oral leukoplakia...	OMIM:127550
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Increased circulating lactate dehydrogenase concentration, Microangiopathic hemolytic anemia, Acu...	ORPHA:90038
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypotension, Sepsis, Hepatitis, Macrocytic anemia, Hyperuricemia, Hyponatremia...	ORPHA:199299
Magel2-Related Prader-Willi-Like Syndrome	Precocious puberty, Small pituitary gland, Abnormal temper tantrums, Gastroesophageal reflux, Xer...	ORPHA:398069
Hijazi-Reis Syndrome	Recurrent respiratory infections, Hyperbilirubinemia, Recurrent ear infections, Gastroesophageal ...	OMIM:301094
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal sepsis, Hemol...	ORPHA:529808
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic...	ORPHA:209902
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Microcytic anemia, Elevated circulating creatine kinase concentration, Neutropenia, Hepatomegaly,...	OMIM:251900
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal sepsis, Hemol...	ORPHA:529799
Fanconi-Bickel Syndrome	Hypouricemia, Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Rickets, Osteom...	OMIM:227810
Cog4-Cdg	Recurrent upper respiratory tract infections, Elevated circulating hepatic transaminase concentra...	ORPHA:263501
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, Sp...	OMIM:610717
L-2-Hydroxyglutaric Aciduria	Infectious encephalitis	ORPHA:79314
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ...	OMIM:601495
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Macrocytic anemia...	OMIM:275350
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Thymoma, Biliary cirrhosis, Ap...	ORPHA:227982
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Splenomegaly, ...	ORPHA:169090
Angelman Syndrome	Self-injurious behavior, Vomiting, Gastroesophageal reflux, Precocious puberty in females, Delaye...	ORPHA:72
Peroxisome Biogenesis Disorder 13A (Zellweger)	Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Elevate...	OMIM:614887
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Cleft palate	OMIM:616738
Cebalid Syndrome	Polyphagia, Congenital diaphragmatic hernia	OMIM:618774
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cholestasis, Pancytopenia, Hepatic steatosis, Cirrhosis, Unconjugated hyperbilirubinemia, High pa...	OMIM:613658
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Acanthocytosis, Hep...	ORPHA:71
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Telangiectasia of the...	OMIM:615381
Myeloperoxidase Deficiency	Diminished neutrophil myeloperoxidase activity	OMIM:254600
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:247585
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Hepatic steatosis, Cardiomyopathy	OMIM:615119
Barth Syndrome	Recurrent infections in infancy and early childhood, Dilated cardiomyopathy, Elevated monolysocar...	OMIM:302060
Liver Disease, Severe Congenital	Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepa...	OMIM:619991
Rift Valley Fever	Melena, Elevated circulating hepatic transaminase concentration, Hepatitis, Severe viral infectio...	ORPHA:319251
Scrub Typhus	Skin rash, Splenomegaly, Infectious encephalitis, Myocarditis, Meningitis, Anterior uveitis	ORPHA:83317
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Acute Disseminated Encephalomyelitis	Mental deterioration, Post-vaccination measles, Myelitis, Herpes simplex encephalitis, Confusion,...	ORPHA:83597
Congenital Disorder Of Glycosylation, Type Iil	Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Elevated circulati...	OMIM:614576
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu...	ORPHA:210136
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Anorexia...	ORPHA:1304
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hepatomegaly, Chronic neut...	ORPHA:79259
Zygomycosis	Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Gastrointestinal hemorrh...	ORPHA:73263
Typhoid	Splenomegaly, Skin rash, Infectious encephalitis	ORPHA:99745
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Inflammation of the large intestine, Decrea...	OMIM:619281
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoplastic spleen,...	ORPHA:699
Prader-Willi Syndrome	Premature adrenarche, Precocious puberty, Small pituitary gland, Vomiting, Xerostomia, Failure to...	ORPHA:739
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated...	ORPHA:53693
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Intrauterine growth retardation, Oligohydramnios, Infectious encephalitis	ORPHA:1194
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Congestive heart failure, Normochromic microcytic anemia, Elevated circul...	OMIM:610198
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia, T...	ORPHA:90037
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Recurrent infections, Neutrop...	OMIM:620443
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Shwachman-Diamond Syndrome 1	Elevated circulating hepatic transaminase concentration, Persistence of hemoglobin F, Exocrine pa...	OMIM:260400
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Thrombocytopenia,...	OMIM:603585
Behçet Disease	Memory impairment, Confusion, Recurrent aphthous stomatitis, Splenomegaly, Irritability, Orchitis...	ORPHA:117
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Failure to thrive, Hypoglycemia	OMIM:606528
Fibronectin Glomerulopathy	Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr...	ORPHA:84090
Glycogen Storage Disease Ixb	Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Reduced hepatic ph...	OMIM:261750
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Kawasaki Disease	Arrhythmia, Recurrent pharyngitis, Elevated circulating C-reactive protein concentration, Jaundic...	ORPHA:2331
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Japanese Encephalitis	Neutrophilia, Infectious encephalitis, Cognitive impairment, Anorexia, Paucity of anterior horn m...	ORPHA:79139
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5	Herpes simplex encephalitis	OMIM:614849
Anemia, Autoimmune Hemolytic	Autoimmune hemolytic anemia	OMIM:205700
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media...	OMIM:266265
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Recurrent infection of the gastrointestinal tract, Elevated circulating ...	OMIM:301110
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hepatomega...	OMIM:618234
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Infection associated neutropenia, Elevated circulating hepatic trans...	ORPHA:445038
Immunodeficiency 12	Recurrent viral infections, Esophageal stricture, Recurrent aphthous stomatitis, Complete or near...	OMIM:615468
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Predominantly dermal neutro...	ORPHA:293173
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Low plasma citrulline, Elevat...	OMIM:261680
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10	Herpes simplex encephalitis	OMIM:619396
Solitary Fibrous Tumor	Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Weight loss, Reduced C-peptide le...	ORPHA:2126
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ...	OMIM:614736
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Abnormal ci...	ORPHA:348
Interstitial Lung And Liver Disease	Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Hepatic failure, Intraalveolar phosph...	OMIM:615486
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatic steatosis, Cirrhosis, Hypertriglyceridemia, Hepatomegaly, Hypertension	ORPHA:363400
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro...	ORPHA:3260
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Protein-losing enteropathy, Elevated circulating hepatic tran...	ORPHA:398063
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Lymphadenit...	ORPHA:51636
Simple Cryoglobulinemia	Vasculitis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrhage, Nephritis, Cong...	ORPHA:91139
Lipodystrophy, Familial Partial, Type 4	Hypertension, Hepatic steatosis, Hypertriglyceridemia	OMIM:613877
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal ...	ORPHA:449395
Meningococcal Meningitis	Skin rash, Infectious encephalitis, Irritability, Anorexia	ORPHA:33475
Pelger-Huet Anomaly	Giant platelets, Eczematoid dermatitis, Recurrent otitis media, Median cleft palate, Hyposegmenta...	OMIM:169400
Congenital Generalized Lipodystrophy	Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Cirrhosis, Hypercholest...	ORPHA:528
Glucocorticoid Deficiency 1	Failure to thrive, Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulatin...	OMIM:202200
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Hyperuric...	ORPHA:79083
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Elevated gamma-glutamyltransferase level, Hepatic failure, Micronodular cirrhosis, Hepatocellular...	OMIM:256810
Methylmalonic Aciduria, Cbla Type	Decreased methylmalonyl-CoA mutase activity, Pancytopenia, Hyperglycinemia, Hyperammonemia, Anemi...	OMIM:251100
American Trypanosomiasis	Splenomegaly, Skin rash, Infectious encephalitis, Myocarditis, Autoimmune antibody positivity	ORPHA:3386
Mirage Syndrome	Sepsis, Gastroesophageal reflux, Recurrent urinary tract infections, Radial club hand, Lymphopeni...	OMIM:617053
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Lymphopenia, Increased circulating IgA level, Neutropenia, Recurrent infecti...	OMIM:616395
Psoriasis 1, Susceptibility To	Psoriasiform dermatitis, Arthritis	OMIM:177900
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Elev...	ORPHA:521219
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive	ORPHA:79099
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoc...	OMIM:269200
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis, Hypertension	ORPHA:79084
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Obesity, Polyphagia, Delayed puberty, Increased blood urea nit...	ORPHA:251004
Hjv Or Hamp-Related Hemochromatosis	Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration, Dilated...	ORPHA:79230
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia	ORPHA:3363
Tatsumi Factor Deficiency	Prolonged bleeding time	OMIM:272650
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia...	OMIM:620481
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ...	ORPHA:209919
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Elevated gamma-glutamyltransferase level, Stomatocytosis, Splenomegaly, Conjugated hyperbilirubin...	OMIM:608885
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Elevated circulating acylcarnitine concentration, Hepatic failure, Cardiomyo...	ORPHA:228308
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an...	ORPHA:440713
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari syndrome, Intestina...	OMIM:226300
Incontinentia Pigmenti	Keratitis, Umbilical hernia, Skin rash, Infectious encephalitis, Attention deficit hyperactivity ...	ORPHA:464
Myh9-Related Disease	Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Renal insufficie...	ORPHA:182050
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Peroxisome Biogenesis Disorder 5A (Zellweger)	Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Mitral regurgitation, ...	OMIM:614866
Gaucher Disease	Pancytopenia, Increased circulating antibody level, Cirrhosis, Polyclonal elevation of IgM, Hepat...	ORPHA:355
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Hepatic periportal necrosis, Hepatic steatosis,...	OMIM:231680
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Hepatic fibrosis, Dilated cardiomyopathy, Aplastic anemia, Oral leuk...	OMIM:613989
Glucocorticoid Deficiency 3	Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c...	OMIM:609197
Systemic Lupus Erythematosus, Susceptibility To, 6	Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Arthritis, Pericarditis	OMIM:609939
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Emotional lability, Ob...	ORPHA:66624
Man1B1-Cdg	Polyphagia, Truncal obesity	ORPHA:397941
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ...	OMIM:602347
Acute Liver Failure	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hypotension...	ORPHA:90062
Hennekam-Beemer Syndrome	Pneumonia, Mastocytosis, Hypotension, Arrhythmia, Telangiectasia of the skin, High palate	ORPHA:2135
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Recurrent infection of ...	OMIM:613489
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Decreased circulating IgG level, Elevated circulating hepatic ...	OMIM:212065
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Erythema nodosum, Elevated...	OMIM:615688
Leigh Syndrome, Nuclear	Hepatocellular necrosis	OMIM:256000
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Conjunctivitis, Lymphopenia, Splenomegal...	OMIM:617591
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Villous atrophy, Increased intestinal transit tim...	OMIM:619377
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th...	OMIM:618534
Spondyloenchondrodysplasia	Pneumonia, Vasculitis, Granuloma, Hepatitis, Pancytopenia, Autoimmune hemolytic anemia, Skin rash...	ORPHA:1855
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration,...	ORPHA:75563
Leptospirosis	Hypotension, Uveitis, Subconjunctival hemorrhage, Hepatitis, Pulmonary hemorrhage, Retinal hemorr...	ORPHA:509
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Congestive heart failure, Leukopenia, Hepatic steatosis, Neutropenia, Thromb...	OMIM:616271
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Hypotension, Hyponatremia, Hepatitis	ORPHA:199296
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Increased red blood cell count, Unusual skin infection, Granuloma, Confusion, Irritabi...	ORPHA:68
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes...	OMIM:306000
Mitochondrial Complex I Deficiency, Nuclear Type 33	Aspiration pneumonia, Hyperammonemia, Neutropenia, Dysphagia, Bronchiectasis	OMIM:618253
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Galactokinase Deficiency	Failure to thrive, Hypoglycemia, Hypergalactosemia, Hyperinsulinemia, Hypercholesterolemia, Incre...	ORPHA:79237
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe...	OMIM:617243
Oligoarticular Juvenile Idiopathic Arthritis	Rheumatoid arthritis, Abnormality of the ankle, Autoimmunity, Joint hypermobility, Knee osteoarth...	ORPHA:85410
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Sepsis, Elevated circulating hepatic transaminase concentration, Acu...	ORPHA:537
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom...	OMIM:613470
Hypocomplementemic Urticarial Vasculitis	Uveitis, Conjunctivitis, Episcleritis, Splenomegaly, Skin rash, Hepatomegaly, Inflammatory abnorm...	ORPHA:36412
Lysosomal Acid Lipase Deficiency	Hepatosplenomegaly, Hypersplenism, Elevated circulating alkaline phosphatase concentration, Fatal...	ORPHA:275761
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu...	OMIM:604387
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Recurrent gram-neg...	OMIM:116920
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hepatitis, Jejunoileal ulceration, Intestinal malrotation, Psoriasiform derma...	ORPHA:436252
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Pancreati...	ORPHA:2348
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr...	OMIM:201450
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Accessory spleen, Sepsis, Polysplenia, Exocrine pancreatic insufficien...	OMIM:619418
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperuricemia, Hyperlipidemia, Hypoglycemia	ORPHA:364
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Lipodystrophy, Familial Partial, Type 2	Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab...	OMIM:151660
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Glomerulonephritis	ORPHA:99931
Common Variable Immunodeficiency	Pneumonia, Vasculitis, Elevated circulating hepatic transaminase concentration, Bronchiectasis, L...	ORPHA:1572
Hartnup Disease	Skin rash, Emotional lability, Infectious encephalitis	ORPHA:2116
Necrotizing Enterocolitis	Hypotension, Shock, Leukocytosis, Bradycardia, Hyponatremia, Peritonitis, Thrombocytopenia, Neutr...	ORPHA:391673
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypermethioninemia, Hepatic steatosis, Reduced cystathionine beta-synthase activity in cultured f...	OMIM:236200
Mevalonic Aciduria	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:610377
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilate...	ORPHA:367
Schimke Immunoosseous Dysplasia	Osteopenia, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Transient ischemic attack, Cer...	OMIM:242900
Von Willebrand Disease, Platelet-Type	Prolonged bleeding time	OMIM:177820
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Myositis, Hashimoto thyroiditis, Raynaud phenomenon, Dysphagia, ...	ORPHA:589
Overlap Myositis	Elevated circulating hepatic transaminase concentration, Rheumatoid arthritis, Abnormal circulati...	ORPHA:206572
Letterer-Siwe Disease	Hepatosplenomegaly, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, Anemia, Jaundice, Stoma...	OMIM:246400
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4...	OMIM:618495
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ...	OMIM:618549
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Intracranial hemorrhage,...	ORPHA:3226
Primary Sjögren Syndrome	Arteritis, Xerostomia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Increase...	ORPHA:289390
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Cystathioninemia, Decreased methylmalonyl-CoA mutase activity, Decreased methionine ...	OMIM:277400
Lichen Planopilaris	Abnormal intestine morphology, Hepatitis	ORPHA:525
Preeclampsia	Elevated systolic blood pressure, Abnormality of the hepatic vasculature, Elevated circulating he...	ORPHA:275555
Neurocutaneous Melanocytosis	Meningocele, Infectious encephalitis	ORPHA:2481
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly, Jaundice, Recurrent infections,...	ORPHA:168577
Isolated Agammaglobulinemia	Pneumonia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Autoimmunity, Otitis media...	ORPHA:229717
Bleeding Disorder, Platelet-Type, 18	Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephrine-induced ...	OMIM:615888
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Depression, Recurrent urinary tract infections, Abnormal hemoglobin, Inf...	ORPHA:847
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St...	ORPHA:567546
Fumarase Deficiency	Intrahepatic cholestasis, Hepatic failure, Polycythemia, Hyperbilirubinemia, Decreased fumarate h...	OMIM:606812
Achalasia, Familial Esophageal	Rheumatoid arthritis, Keratoconjunctivitis sicca	OMIM:200400
Mccune-Albright Syndrome	Bone marrow hypocellularity, Gastroesophageal reflux, Aneurysmal bone cyst, Hepatitis, Osteomalac...	ORPHA:562
Wiskott-Aldrich Syndrome	Acute leukemia, Abnormal eosinophil morphology, Inflammation of the large intestine, Microcytic a...	ORPHA:906
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Hepatic steatosis, Lymphoid nodular hyperplasia	ORPHA:210548
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, ...	OMIM:300752
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Bifid uvula, Recurrent viral infections, Elevated circulating hepatic transaminase co...	ORPHA:2959
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Self-injurious behavior, Central hypothyroidism, Polydipsia, Increased circ...	ORPHA:293987
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:98908
Reynolds Syndrome	Skin rash, Infectious encephalitis, Keratoconjunctivitis sicca, Arthritis, Dysphagia	ORPHA:779
Mannosidosis, Alpha B, Lysosomal	Macroglossia, Splenomegaly, Decreased circulating alpha-mannosidase activity, Hepatomegaly, Reduc...	OMIM:248500
Portal Hypertension, Noncirrhotic, 1	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Hepat...	OMIM:617068
Rh-Null, Regulator Type	Jaundice, Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia	OMIM:268150
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Boutonneuse Fever	Vasculitis, Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Le...	ORPHA:83313
Luscan-Lumish Syndrome	Polyphagia, Obesity, Aggressive behavior	OMIM:616831
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia	ORPHA:2089
Trisomy 18P	Polyphagia, Attention deficit hyperactivity disorder	ORPHA:1715
Gangliocytoma	Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess...	ORPHA:251937
Mucopolysaccharidosis Type 7	Splenomegaly, Recurrent respiratory infections, Epiphyseal stippling, Hepatitis	ORPHA:584
Paroxysmal Nocturnal Hemoglobinuria	Pancytopenia, Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Dysphagia, In...	ORPHA:447
Secondary Non-Traumatic Avascular Necrosis	Rheumatoid arthritis, Limitation of joint mobility, Autoimmunity, Systemic lupus erythematosus	ORPHA:399180
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,...	OMIM:611126
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Dilated ...	OMIM:203800
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Conjunctivitis, Confusion, Leukocytosis, Otitis medi...	ORPHA:3392
Immunodeficiency 103, Susceptibility To Fungal Infections	Chronic tinea infection, Abnormal natural killer cell count, Hypereosinophilia, Abnormal B cell c...	OMIM:212050
Glycogen Storage Disease Ic	Recurrent upper respiratory tract infections, Spider hemangioma, Inflammation of the large intest...	OMIM:232240
Glanzmann Thrombasthenia 1	Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet...	OMIM:273800
Congenital Syphilis	Pneumonia, Uveitis, Keratitis, Extramedullary hematopoiesis, Intrauterine growth retardation, Lar...	ORPHA:499009
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Reduced circulating pyrimidine 5-prime-nuc...	OMIM:266120
Acute Promyelocytic Leukemia	Epistaxis, Diffuse alveolar hemorrhage, Chronic infection, Pancytopenia, Leukopenia, Leukocytosis...	ORPHA:520
Shwachman-Diamond Syndrome 2	Normocytic anemia, Exocrine pancreatic insufficiency, High palate, Hyperechogenic pancreas, Neutr...	OMIM:617941
Nocardiosis	Pneumonia, Unusual CNS infection, Lymphadenitis, Cutaneous abscess, Keratitis, Brain abscess, Liv...	ORPHA:31204
Cranioectodermal Dysplasia 2	Recurrent pneumonia, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Bi...	OMIM:613610
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Neutropenia	OMIM:617050
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl...	OMIM:618849
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hypertrophic ...	OMIM:619902
Seckel Syndrome 10	Congestive heart failure, Elevated circulating aspartate aminotransferase concentration, Hepatic ...	OMIM:617253
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality	OMIM:607485
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilic infiltration of the esophagus, High palate, Duodena...	OMIM:147060
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Increa...	ORPHA:280365
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
3-Methylcrotonyl-Coa Carboxylase Deficiency	Failure to thrive in infancy, Abnormal circulating leucine concentration, Hyperammonemia, Hypogly...	ORPHA:6
Wagro Syndrome	Obesity, Polyphagia, Aggressive behavior, Compulsive behaviors, Agitation	OMIM:612469
Craniopharyngioma	Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad...	ORPHA:54595
Intellectual Developmental Disorder, Autosomal Dominant 1	Self-injurious behavior, Gastroesophageal reflux, Bruxism, Inappropriate laughter, Recurrent hand...	OMIM:156200
Pseudohypoparathyroidism Type 1C	Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Hyperpho...	ORPHA:79444
Generalized Pustular Psoriasis	Hypoalbuminemia, Sepsis, Elevated circulating hepatic transaminase concentration, Congestive hear...	ORPHA:247353
Cranio-Osteoarthropathy	Eczematoid dermatitis, Joint stiffness, Joint swelling, Osteoarthritis, Arthritis, Abnormality of...	ORPHA:1525
Evans Syndrome	Epistaxis, Autoimmune hemolytic anemia, Syncope, Neutropenia in presence of anti-neutropil antibo...	ORPHA:1959
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Delayed proximal femoral epiphyseal ossification, Bradycardia, Prolo...	ORPHA:90673
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Recurr...	OMIM:616576
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Rheumatoid arthritis, Psoriasiform dermatitis, Renal insufficiency, Unilater...	ORPHA:49041
Cysticercosis	Mental deterioration, Memory impairment, Confusion, Emotional lability, Infectious encephalitis, ...	ORPHA:1560
Congenital Erythropoietic Porphyria	Reduced haptoglobin level, Scleritis, Keratoconjunctivitis, Increased fecal coproporphyrin 1, Poi...	ORPHA:79277
Familial Chylomicronemia Syndrome	Pulmonary embolism, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlip...	ORPHA:444490
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,...	OMIM:615160
Chromosome 22Q13 Duplication Syndrome	Polyphagia, Attention deficit hyperactivity disorder, Impulsivity	OMIM:615538
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin...	OMIM:618329
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li...	ORPHA:415
Developmental And Epileptic Encephalopathy 66	Anemia, Neutropenia	OMIM:618067
Lujo Hemorrhagic Fever	Hypotension, Elevated circulating hepatic transaminase concentration, Increased circulating lacta...	ORPHA:319213
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal circulating e...	ORPHA:79240
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia...	OMIM:262190
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Thrombocytopenia 5	Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb...	OMIM:616216
Leigh Syndrome	Hepatic failure, Severe viral infection, Eczematoid dermatitis, Congestive heart failure, Hypertr...	ORPHA:506
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hyperbiliru...	OMIM:229600
Slc35A1-Cdg	Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, N...	ORPHA:238459
Chronic Mucocutaneous Candidiasis	Hepatitis, Recurrent respiratory infections, Recurrent urinary tract infections, Skin rash, Recur...	ORPHA:1334
Mixed-Type Autoimmune Hemolytic Anemia	Skin rash, Tachycardia, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated gamma-glutamyltransferase level, Cholestasis, Hyperbilirubinemia, Elevated circulating a...	OMIM:619534
Combined Oxidative Phosphorylation Deficiency 19	Elevated gamma-glutamyltransferase level, Gastroesophageal reflux, Elevated circulating aspartate...	OMIM:615595
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	ORPHA:713
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Nephritis, Early ossification of capital femoral epiphyses, Pulmonary insuffici...	OMIM:208500
Bile Acid Malabsorption, Primary, 2	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Decreased circulating chenodeoxych...	OMIM:619481
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia	OMIM:598500
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Leu...	ORPHA:20
Psoriasis 14, Pustular	Furrowed tongue, Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Geographic tongu...	OMIM:614204
Degcags Syndrome	Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Pro...	OMIM:619488
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ...	OMIM:617780
Bardet-Biedl Syndrome 19	Hepatic steatosis	OMIM:615996
Vertical Talus, Congenital	Arthritis	OMIM:192950
Dilated Cardiomyopathy With Ataxia	Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce...	ORPHA:66634
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Reduced natural killer cell count, Recurrent viral infections, Decreased circulating ...	ORPHA:221139
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cholelithiasis, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Irid...	OMIM:240300
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Congestive heart failur...	ORPHA:67
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Cardiomyopathy, Abnormal cardiovascular system physiolo...	ORPHA:79086
Autosomal Dominant Spastic Paraplegia Type 29	Hiatus hernia, Abnormal rectum morphology, Hyperbilirubinemia	ORPHA:101009
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Epistaxis, Pancytopenia, Retinal hemorrhage, Reticulocytopenia, Neut...	ORPHA:88
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Orchitis, Hematuria, Knee osteoarthritis, Proteinuria, Glome...	ORPHA:2035
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Combined Oxidative Phosphorylation Deficiency 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ...	OMIM:614924
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c...	OMIM:615962
Diamond-Blackfan Anemia 8	Neutropenia, Increased mean corpuscular volume, Macrocytic anemia	OMIM:612563
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Alexander Disease	Self-injurious behavior, Depression, Emotional lability, Agenesis of corpus callosum, Infectious ...	ORPHA:58
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Elevated circulating palmitoleylcarnitine concentration, Pulmonary emboli...	ORPHA:79282
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Eczematoid dermatitis,...	ORPHA:508542
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Agammaglobulinemia, Absent circulating B cells, Seborrheic dermatitis, Thr...	OMIM:619693
Diamond-Blackfan Anemia 7	Osteopenia, Increased mean corpuscular volume, Recurrent otitis media, Esophagitis, Macrocytic an...	OMIM:612562
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Pancreatic steatosis, Aplastic anemia, Increased mean corpuscular vo...	OMIM:617052
Cartilage-Hair Hypoplasia	Anal stenosis, Lymphopenia, Susceptibility to chickenpox, Macrocytic anemia, Aganglionic megacolo...	OMIM:250250
Systemic-Onset Juvenile Idiopathic Arthritis	Autoimmunity, Skin rash, Joint swelling, Arthritis, Juvenile rheumatoid arthritis, Pericarditis, ...	ORPHA:85414
Cholestasis, Intrahepatic, Of Pregnancy, 1	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Increased seru...	OMIM:147480
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Hyperlipidemia, Mitral regurgitation, Hepatic steatosis, Arrhythmia, Cranio...	ORPHA:254346
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Elevated circu...	OMIM:612852
Sweet Syndrome	Inflammation of the large intestine, Predominantly dermal neutrophilic infiltrate, Chronic lympha...	ORPHA:3243
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Skin rash, Autoimmune hemolytic anemia, Dec...	OMIM:619374
Bloom Syndrome	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Facial telangiecta...	OMIM:210900
Pseudohypoparathyroidism Type 1A	Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Hyperpho...	ORPHA:79443
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:131
Adnp Syndrome	Abnormal temper tantrums, Gastroesophageal reflux, Vomiting, Oral-pharyngeal dysphagia, Umbilical...	ORPHA:404448
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal...	OMIM:262600
Immunodeficiency 25	Recurrent pneumonia, Recurrent candida infections, Autoimmune hemolytic anemia, Eosinophilia, Ant...	OMIM:610163
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr...	ORPHA:309854
D-Bifunctional Protein Deficiency	Osteopenia, Elevated circulating hepatic transaminase concentration, Increased circulating very l...	OMIM:261515
Bleeding Disorder, Platelet-Type, 11	Impaired ristocetin-induced platelet aggregation, Impaired collagen-induced platelet aggregation,...	OMIM:614201
Low Phospholipid-Associated Cholelithiasis	Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Cholelithiasis, Biliary cirrh...	ORPHA:69663
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Abnormal neutrophil morphology, Chronic infection, Abnormal erythrocyte morphology, Leukopenia, M...	ORPHA:86841
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin concentration, Hypercholesterolem...	ORPHA:90674
Glanzmann Thrombasthenia	Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time, Macroscopic hematuria	ORPHA:849
Cirrhosis, Familial	Biliary cirrhosis, Micronodular cirrhosis, Increased level of propylene glycol in blood, Cirrhosi...	OMIM:215600
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro...	ORPHA:35858
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Sepsis, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in prese...	ORPHA:231154
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Membranoprolif...	OMIM:137940
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated circulating hepatic transaminase concentration, Esophagitis, Hepatic steatosis, Elevated...	OMIM:615356
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Hyperbilirub...	OMIM:613986
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Thrombocytopenia, Macrothrombocytopenia, Neutrophil ...	OMIM:155100
Developmental Delay, Hypotonia, And Impaired Language	Recurrent pneumonia, Gastroesophageal reflux, Neutropenia	OMIM:620012
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Abnormality of neutrophil physiology, Telangiectasia of the...	ORPHA:542592
Systemic Sclerosis	Chronic kidney disease, Acute kidney injury, Osteomyelitis, Renal insufficiency, Proteinuria, Glo...	ORPHA:90291
Cartilage-Hair Hypoplasia	Cardiomyopathy, Abnormally ossified vertebrae, Hypocalcemia, Aganglionic megacolon, Anemia, Neutr...	ORPHA:175
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Increased circulating antibody level, Jaundic...	ORPHA:99826
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6	Recurrent aphthous stomatitis, Herpes simplex encephalitis	OMIM:614850
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	ORPHA:300298
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Rheumatoid factor positive, Sacroiliac a...	OMIM:106300
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Skin rash, Splenomegaly, Auto...	ORPHA:100026
Adrenomyodystrophy	Abnormal intestine morphology, Reduced bone mineral density, Hepatic steatosis	ORPHA:977
Rheumatoid Arthritis	Rheumatoid arthritis, Polyarticular arthritis, Anti-citrullinated protein antibody positivity, Jo...	OMIM:180300
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Sclerosis of skull base, Re...	OMIM:607944
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Lymphope...	OMIM:616100
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Pneumonia, Acute kidney injury, Elevated circulating hepatic transaminase...	ORPHA:340
Nail-Patella Syndrome	Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome	OMIM:161200
Ogden Syndrome	Narrow palate, Polycythemia, Eczematoid dermatitis, Recurrent otitis media, Torsade de pointes, P...	OMIM:300855
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia,...	OMIM:201910
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Orchitis, Pustule, Infectious encephalitis, Arthritis, Anorexia	ORPHA:761
Congenital Disorder Of Glycosylation, Type Iiw	Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration...	OMIM:619525
Familial Mediterranean Fever	Erysipelas, Leukocytosis, Splenomegaly, Crohn's disease, Orchitis, Peritonitis, Elevated circulat...	OMIM:249100
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	OMIM:609015
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive secondary to recurrent infections, Otitis media, Recurrent opportuni...	OMIM:601457
Tenorio Syndrome	Hypoinsulinemia, Hypoglycemia	OMIM:616260
Fanconi-Bickel Syndrome	Osteopenia, Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentrati...	ORPHA:2088
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Congestive heart failure, Cholestasis, Tricuspid regurgitation, Mitral regurgitat...	ORPHA:746
7Q11.23 Microduplication Syndrome	Self-injurious behavior, Obesity, Inguinal hernia, Congenital diaphragmatic hernia, Chronic const...	ORPHA:96121
Lead Poisoning	Memory impairment, Depression, Decreased male libido, Imbalanced hemoglobin synthesis, Abnormalit...	ORPHA:330015
Hypouricemia, Renal, 1	Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper...	OMIM:220150
Helsmoortel-Van Der Aa Syndrome	Gastroesophageal reflux, Failure to thrive, Decreased response to growth hormone stimulation test...	OMIM:615873
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Cholelithiasis, Recurrent tonsillitis, Atopic dermatitis, Osteomyelitis, Incre...	ORPHA:171876
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Thrombocytopenia, Anemia, Heart murmur, Int...	ORPHA:163979
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia...	ORPHA:3008
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Vasculitis, Leukocytosis, Panniculitis, Skin rash, Increased proportion of CD4-positive T cells, ...	OMIM:617099
Subcorneal Pustular Dermatosis	Pustule, Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus	ORPHA:48377
Staphylococcal Necrotizing Pneumonia	Pneumonia, Hypotension, Sepsis, Shock, Leukopenia, Leukocytosis, Severe infection, Acute infectio...	ORPHA:36238
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Polyphagia, Restlessness, Aggressive behavior, Self-mutilation	ORPHA:251028
Cohen Syndrome	High, narrow palate, Leukopenia, Neutropenia	OMIM:216550
Purine Nucleoside Phosphorylase Deficiency	Recurrent respiratory infections, Systemic lupus erythematosus, Lymphopenia, Autoimmunity, Autoim...	ORPHA:760
Congenital Macroglossia	Abnormal hepatic glycogen storage, Macroglossia	ORPHA:2430
Bachmann-Bupp Syndrome	High palate, Hyperbilirubinemia	OMIM:619075
Pneumocystosis	Pneumocystis jirovecii pneumonia, Increased circulating lactate dehydrogenase concentration, Inte...	ORPHA:723
Crimean-Congo Hemorrhagic Fever	Morbilliform rash, Pancytopenia, Erythema nodosum, Neutrophilia, Hepatomegaly, Tachycardia, Jaund...	ORPHA:99827
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin...	OMIM:242150
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated circulating hepatic transaminase concentration, Ventricular bigeminy, Gastroesophageal r...	OMIM:610131
Hyper-Igd Syndrome	Lymphadenitis, Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, ...	OMIM:260920
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:159
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Osteopenia, Gastrointestinal hemorrhage, Aplastic anemia, Oral leuko...	OMIM:613990
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Kenny-Caffey Syndrome, Type 1	Hypomagnesemia, Hypocalcemia, Decreased skull ossification, Anemia, Calvarial osteosclerosis, Rec...	OMIM:244460
Distal Xq28 Microduplication Syndrome	Epistaxis, Recurrent upper respiratory tract infections, Neonatal hyperbilirubinemia, High palate	ORPHA:293939
Trichothiodystrophy	High, narrow palate, Osteopenia, Increased mean corpuscular hemoglobin concentration, Cardiomyopa...	ORPHA:33364
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Gout, Hepatic s...	ORPHA:412
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Tarsal sclerosis, Elevated circulating hepatic transam...	ORPHA:404454
Weaver Syndrome	Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Polyphagia, Camptodactyly	OMIM:277590
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Cardiomyopathy, Hepatic steatosis, Decreased liver function	OMIM:614922
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Ankle swelling, Joint stiffness, Abnormal hip joint morphology, Abnormality o...	ORPHA:85408
Cystic Fibrosis	Osteopenia, Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Bro...	ORPHA:586
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia, Mitral stenosis, Pulmonary arterial hypertension, Neutropenia, Recur...	ORPHA:163956
Immunodeficiency 55	Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Lymphadenopathy, Neutropenia, Re...	OMIM:617827
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Abnormal T cell count, Hepatic hemophagocytosis, Abnormal natural killer cell count, Recurrent ot...	OMIM:620430
Thymoma	Myositis, Rheumatoid arthritis, Glomerulonephritis, Ulcerative colitis	ORPHA:99867
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, High palate	OMIM:614520
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts, ...	OMIM:210200
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Aspiration pneumonia, Elevated circulating alkaline phosphatase concentration,...	ORPHA:94093
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Hypertrophic ca...	ORPHA:17
Primary Ciliary Dyskinesia	Recurrent mycobacterial infections, Bronchiectasis, Polysplenia, Recurrent otitis media, Intestin...	ORPHA:244
Immunodeficiency 59 And Hypoglycemia	Recurrent upper respiratory tract infections, Arteritis, Acne inversa, Herpes simplex encephaliti...	OMIM:233600
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel...	OMIM:131100
Tyrosinemia, Type I	Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Hepatic failure, Elevat...	OMIM:276700
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Diamond-Blackfan Anemia 11	Bone marrow hypocellularity, Neutropenia, Anemia of inadequate production, Bilateral cleft palate	OMIM:614900
Monosomy 13Q34	Hematochezia, Epistaxis, Hepatic steatosis, Hypercalcemia, Pulmonic stenosis	ORPHA:96168
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D...	OMIM:174000
Chikungunya	Depression, Skin rash, Infectious encephalitis, Crusting erythematous dermatitis, Synovitis, Arth...	ORPHA:324625
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Decreased liver function, Hypertrophic cardiomyopathy, Anemia, Hepatomegaly, Diffuse hepatic stea...	ORPHA:436271
Platelet Glycoprotein Iv Deficiency	Prolonged bleeding time	OMIM:608404
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, High, narrow palate, Elevated circulating hepatic transaminase concentratio...	OMIM:619475
Idiopathic Bronchiectasis	Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections	ORPHA:60033
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol...	ORPHA:93111
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Combined Oxidative Phosphorylation Deficiency 27	Hyperammonemia, Microvesicular hepatic steatosis	OMIM:616672
Trichohepatoenteric Syndrome 1	Intrauterine growth retardation, Large placenta, Abnormalities of placenta or umbilical cord, Spl...	OMIM:222470
Rett Syndrome	Failure to thrive, Increased serum leptin, Bruxism, Hyperammonemia, Stereotypical hand wringing, ...	ORPHA:778
Glucocorticoid Deficiency 2	Hypoglycemia, Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating reni...	OMIM:607398
Fetal Akinesia Deformation Sequence 1	Small placenta, Intrauterine growth retardation, Increased nuchal translucency, Short umbilical c...	OMIM:208150
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	OMIM:124000
Scedosporiosis	Pneumonia, Unusual CNS infection, Unusual skin infection, Invasive fungal infection, Septic arthr...	ORPHA:449280
Occipital Horn Syndrome	High, narrow palate, Osteopenia, Gastroesophageal reflux, Rickets, Hepatitis, Osteomalacia, Chole...	ORPHA:198
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Hypophosphatemic rickets, Pancreatic isl...	ORPHA:263455
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Anteriorly placed anus, Large vessel vasculitis, Recurrent aphthou...	ORPHA:728
Porphyria Due To Ala Dehydratase Deficiency	Depression, Abnormal fear-induced behavior, Confusion, Abnormal erythrocyte enzyme concentration ...	ORPHA:100924
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Recurrent pneumonia, Skin rash, Hypoplasia of the thymus, Recurrent fungal infections,...	OMIM:300400
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Punctate keratitis, Antinuclear ant...	OMIM:617388
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Intrauterine gro...	OMIM:251260
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol...	ORPHA:2330
Smith-Lemli-Opitz Syndrome	Recurrent otitis media, Hepatic steatosis, Cirrhosis, Hepatomegaly, Ventricular fibrillation, Gas...	OMIM:270400
Cinca Syndrome	Abnormality of neutrophils, Premature birth, Leukocytosis, Splenomegaly, Anemia, Inflammatory abn...	ORPHA:1451
Cocaine Intoxication	Acute kidney injury, Hematuria, Proteinuria, Glomerulonephritis, Tubulointerstitial nephritis, Co...	ORPHA:90068
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Decreased liver function, Hypertrophic cardiomyopathy, Anemia, Increased intramyocellular lipid d...	OMIM:220110
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Neutropenia	OMIM:609053
Reticular Dysgenesis	Abnormality of neutrophils, Leukopenia, Skin rash, Anemia, Recurrent respiratory infections, Chro...	ORPHA:33355
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Polyhydramnios, Large placenta, Umbilical hernia	ORPHA:254534
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Abnormality of neutrophils, Pancytopenia, Splenomegaly, Abnormal m...	ORPHA:2585
Gaisböck Syndrome	Increased red blood cell count, Peptic ulcer, Increased mean corpuscular hemoglobin concentration...	ORPHA:90041
Systemic Lupus Erythematosus	Discoid lupus rash, Malar rash, Hematuria, Proteinuria, Lupus nephritis, Arthritis, Cheilitis, Py...	ORPHA:536
Infantile Systemic Hyalinosis	Osteopenia, Aplasia/Hypoplasia of the thymus, Osteomalacia, Telangiectasia of the skin, Abnormali...	ORPHA:2176
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac...	OMIM:300835
Neu-Laxova Syndrome 1	Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical cord, Decreased...	OMIM:256520
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Arthritis, Anemia, Meningitis, Uveitis	OMIM:607115
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Pancytopenia, Skin rash, Splenomegaly, Enterocolitis, Thromboc...	OMIM:616050
Elliptocytosis 2	Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
Restrictive Dermopathy	Small placenta, Intrauterine growth retardation, Large placenta, Short umbilical cord, Decreased ...	ORPHA:1662
Spastic Paraplegia 29, Autosomal Dominant	Hiatus hernia, Neonatal hyperbilirubinemia	OMIM:609727
Tick-Borne Encephalitis	Unusual CNS infection, Myelitis, Depression, Leukopenia, Leukocytosis, Diminished ability to conc...	ORPHA:297
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Elevated circulating hepatic transa...	OMIM:620005
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Malar rash, Skin rash, Anemia, ...	ORPHA:2909
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Recurrent lower respiratory tract infections, High palate, Osteopenia, Neutropenia	OMIM:618005
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Anemia, Reticulocytopenia, Tracheoes...	OMIM:227646
Cimdag Syndrome	Hepatomegaly, Recurrent infections, Cholelithiasis, Microvesicular hepatic steatosis	OMIM:619273
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Right ventricular failu...	ORPHA:100078
Immunodeficiency 68	Lymphadenitis, Delayed umbilical cord separation, Abscess, T lymphocytopenia, B lymphocytopenia, ...	OMIM:612260
Leukocyte Adhesion Deficiency Type Ii	Narrow palate, Recurrent pneumonia, Keratitis, Recurrent urinary tract infections, Recurrent otit...	ORPHA:99843
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Acne, Hyperlipidemia, Hepatic steatosis, Osteoporosis, Hypertension	ORPHA:189427
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bifid uvula, Gastroesophageal reflux, Ankyloglossia, Aplasia of the thymus, Pulmonary arterial hy...	OMIM:620186
Johanson-Blizzard Syndrome	Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Hepatic fibrosis, Hepatic fai...	OMIM:243800
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Atopic dermatitis, Decreased proportion of memory B cells, Otitis media, Recurrent bacterial meni...	ORPHA:70593
Acute Adrenal Insufficiency	Failure to thrive, Androgen insufficiency, Hypoglycemia, Increased circulating ACTH level, Primar...	ORPHA:95409
Glutamate Formiminotransferase Deficiency	Megaloblastic anemia, Hypersegmentation of neutrophil nuclei	OMIM:229100
Combined Oxidative Phosphorylation Deficiency 18	Intrauterine growth retardation, Oligohydramnios, Macrocytic anemia, Hypersegmentation of neutrop...	OMIM:615578
Onychotrichodysplasia And Neutropenia	Chronic irritative conjunctivitis, Lymphocytosis, Neutropenia, Recurrent infections, Chronic neut...	OMIM:258360
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Bifid uvula, Hyperphosphatemia, Hypocalcemia, Recurrent bacterial infectio...	OMIM:241410
1P36 Deletion Syndrome	Self-injurious behavior, Gastroesophageal reflux, Failure to thrive, Camptodactyly of finger, Hyp...	ORPHA:1606
Immunodeficiency 31C	Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Osteo...	OMIM:614162
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Self-injurious behavior, Fixated interests, Umbilical hernia, Hypocalcemia, Hair-pulling, Polypha...	OMIM:620330
Digeorge Syndrome	High, narrow palate, Bifid uvula, Recurrent pneumonia, Cholelithiasis, Gastroesophageal reflux, I...	OMIM:188400
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein...	OMIM:233450
Platelet Disorder, Undefined	Prolonged bleeding time, Impaired platelet aggregation	OMIM:173420
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Garg-Mishra Progeroid Syndrome	Increased circulating lactate dehydrogenase concentration, Microvesicular hepatic steatosis	OMIM:620601
Immunodeficiency 66	Pustule, Meningitis, Recurrent skin infections	OMIM:618847
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Recurrent otitis media, Microcytic anemia, Inc...	OMIM:256040
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circulating ACTH ...	ORPHA:90790
Addison Disease	Adrenal calcification, Weight loss, Anorexia, Hypoparathyroidism, Hyperkalemia, Thymoma, Androgen...	ORPHA:85138
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Sepsis, Xerostomia, Elevated circulating hepatic transaminase concentration, Oral-phar...	ORPHA:95455
Ectodermal Dysplasia And Immunodeficiency 1	Molluscum contagiosum, Severe cytomegalovirus infection, Recurrent bacterial infections	OMIM:300291
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Functional abnormality of the g...	ORPHA:221008
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Sepsis, Elevated circulating hepatic transaminase concentration, Abn...	ORPHA:36426
Combined Oxidative Phosphorylation Deficiency 14	Increased hepatic glycogen content, Copper accumulation in liver, Thrombocytopenia, Elevated hepa...	OMIM:614946
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Intestinal pseudo-ob...	ORPHA:1333
Diamond-Blackfan Anemia	Adenocarcinoma of the colon, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volu...	ORPHA:124
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia	ORPHA:1930
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Polyhydramnios, Intrauterine growth retardation, Large placenta, Umbilical hernia	ORPHA:254528
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Leukocytosis, Hepatic steatosis, Azotemia	OMIM:619321
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia, Aspiration pneumonia	ORPHA:95232
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Elevated circulating hepatic transaminase concentration, Tricuspid regurgitation, Mit...	OMIM:619127
Factor V Deficiency	Prolonged bleeding time, Prolonged prothrombin time	OMIM:227400
3-Methylglutaconic Aciduria, Type Viii	Jaundice, Dysphagia, Neutropenia, Bradycardia	OMIM:617248
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Self-injurious behavior, Lateral ventricle dilatation, Aggressive behavior, Hyposegmentation of n...	OMIM:620075
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia	ORPHA:1302
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Inflammation of the large intestine, Recurrent upper respiratory ...	OMIM:301000
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor...	ORPHA:3077
Chromomycosis	Keratitis, Keratoconjunctivitis sicca, Lymphangiectasis, Recurrent bacterial infections, Osteolysis	ORPHA:182
Arima Syndrome	Hepatic fibrosis, Hepatic steatosis, Anemia, Cirrhosis, Hepatomegaly, Hypertension, Esophageal varix	OMIM:243910
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Renal amyloidosis, Abnormality of the urinary system, IgA deposition in t...	ORPHA:79408
Saul-Wilson Syndrome	Neutropenia	OMIM:618150
Immunodeficiency 108 With Autoinflammation	Impaired neutrophil chemotaxis, Recurrent aphthous stomatitis, Hyposegmentation of neutrophil nuc...	OMIM:260570
Coccidioidomycosis	Pneumonia, Unusual CNS infection, Folliculitis, Invasive fungal infection, Granuloma, Morbillifor...	ORPHA:228123
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Arrhythmia, Systolic heart murmur, Right ventricular failure, Tricuspid reg...	ORPHA:99103
Rothmund-Thomson Syndrome Type 2	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Functional abnormality of the g...	ORPHA:221016
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Elevated systolic blood pressure, Decreased circulating renin level, Hyponatremia, Reduced blood ...	OMIM:300539
Atypical Werner Syndrome	Chondrocalcinosis, Failure to thrive, Insulin-resistant diabetes mellitus, Fasting hyperinsulinem...	ORPHA:79474
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:600901
Cohen Syndrome	High, narrow palate, Aplasia/Hypoplasia of the tongue, Neutropenia	ORPHA:193
Aspartylglucosaminuria	Macroglossia, Mitral regurgitation, Reduced tissue aspartylglucosaminidase activity, Neutropenia,...	OMIM:208400
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen...	OMIM:227645
Alström Syndrome	Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hepatic steatosis, Cirrhosis, Glome...	ORPHA:64
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:227650
Hemophilia B	Hematuria, Prolonged bleeding time	ORPHA:98879
Pyoderma Gangrenosum	Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule	ORPHA:48104
Patent Urachus	Recurrent gram-negative bacterial infections, Recurrent urinary tract infections	ORPHA:431341
Immunodeficiency 17	Abnormal B cell morphology, Eczematoid dermatitis, Recurrent otitis media, Decreased proportion o...	OMIM:615607
Chromosome 1P36 Deletion Syndrome, Distal	Gastroesophageal reflux, Camptodactyly of finger, Obesity, Congenital hypothyroidism, Oppositiona...	OMIM:607872
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Hemolytic-ur...	OMIM:612925
Nijmegen Breakage Syndrome	Mental deterioration, Recurrent pneumonia, Acute leukemia, Autoimmune hemolytic anemia, Attention...	ORPHA:647
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Delayed ossification of carpal bones, Decreased circulating IgG level, Osteopenia, Neutropenia	OMIM:271510
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Hepa...	OMIM:616263
Autoimmune Hemolytic Anemia, Warm Type	Systemic lupus erythematosus, Autoimmunity, Autoimmune hemolytic anemia, Splenomegaly, Chronic ly...	ORPHA:90033
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,...	OMIM:203700
Progressive Multifocal Leukoencephalopathy	Mental deterioration, Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-po...	ORPHA:217260
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Lymphopenia, Neutropenia, Anemia, Dysphagia	OMIM:618460
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep...	ORPHA:881
Intellectual Developmental Disorder, Autosomal Dominant 54	Gastrointestinal dysmotility, Gastroesophageal reflux, Eczematoid dermatitis, Neutropenia	OMIM:617799
Aromatase Deficiency	Delayed epiphyseal ossification, Osteopenia, Hyperlipidemia, Hepatic steatosis, Osteoporosis	ORPHA:91
Gray Platelet Syndrome	Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired collagen-induce...	OMIM:139090
Intellectual Developmental Disorder, Autosomal Dominant 68	Recurrent infections, Gastroesophageal reflux, Hepatic steatosis, High palate	OMIM:619934
Greenberg Dysplasia	Hepatosplenomegaly, Large placenta, Increased nuchal translucency, Nonimmune hydrops fetalis, Pol...	OMIM:215140
Proteasome-Associated Autoinflammatory Syndrome 4	Myositis, Panniculitis, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Kagami-Ogata Syndrome	Polyhydramnios, Large placenta, Dysphagia, Premature birth	ORPHA:254519
Panhypophysitis	Polydipsia, Decreased male libido, Decreased female libido, Hashimoto thyroiditis, Amenorrhea, An...	ORPHA:95513
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Gastroesophageal reflux, Hyperbilirubinemia, Prolonged neonatal ...	OMIM:210710
Bardet-Biedl Syndrome	Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ...	ORPHA:110
Mixed Connective Tissue Disease	Leukopenia, Autoimmunity, Skin rash, Splenomegaly, Myositis, Gastritis, Keratoconjunctivitis sicc...	ORPHA:809
Cryptococcosis	Pneumonia, Mental deterioration, Memory impairment, Systemic lupus erythematosus, Osteomyelitis, ...	ORPHA:1546
Hermansky-Pudlak Syndrome	Epistaxis, Gastrointestinal hemorrhage, Cardiomyopathy, Neutropenia	ORPHA:79430
Revesz Syndrome	Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Macrocytic anemia, Neutropenia	OMIM:268130
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitation...	ORPHA:99104
Meckel Syndrome, Type 1	Accessory spleen, Occipital encephalocele, Intrauterine growth retardation, Large placenta, Oligo...	OMIM:249000
Apparent Mineralocorticoid Excess	Hypokalemia, Hypertension, Decreased circulating renin level	OMIM:218030
Adenohypophysitis	Decreased male libido, Decreased female libido, Hashimoto thyroiditis, Amenorrhea, Antinuclear an...	ORPHA:95512
Hyperaldosteronism, Familial, Type I	Hypertension, Decreased circulating renin level	OMIM:103900
Hypothyroidism, Congenital, Nongoitrous, 2	Macroglossia, Hyperbilirubinemia, Increased circulating thyroglobulin concentration, Bradycardia	OMIM:218700
Rat-Bite Fever	Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Anemia, Oligoarthri...	ORPHA:31205
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Abnormal T-wave, Palpitations, Decreased circulating renin level, Hypokalemia, Intracr...	ORPHA:231625
Chronic Granulomatous Disease	Abnormality of neutrophils, Eczematoid dermatitis, Otitis media, Splenomegaly, Sinusitis, Inflamm...	ORPHA:379
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Elevated circulating alkaline phosphatase concentration, Microvesicular hepatic steatosis, Cirrho...	OMIM:300868
Paroxysmal Cold Hemoglobinuria	Recurrent respiratory infections, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia	ORPHA:90035
Follicular Lymphoma	Meningitis, Splenomegaly	ORPHA:545
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment	ORPHA:309246
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating renin level	OMIM:605115
Pituitary Dermoid And Epidermoid Cysts	Polydipsia, Hypogonadism, Amenorrhea, Oligomenorrhea, Oligozoospermia, Meningitis	ORPHA:91351
1Q41Q42 Microdeletion Syndrome	Hyposegmentation of neutrophil nuclei, Hypergonadotropic hypogonadism	ORPHA:250999
Liddle Syndrome 2	Hypokalemia, Hypertension, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Hypertension, Decreased circulating renin level	OMIM:618126
Mosaic Trisomy 16	Intrauterine growth retardation, Large placenta, Single umbilical artery, Premature birth	ORPHA:1708
Liddle Syndrome 1	Hypokalemia, Hypertension, Decreased circulating renin level	OMIM:177200
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level	OMIM:614492
Keppen-Lubinsky Syndrome	Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta...	OMIM:614098
Angiostrongyliasis	Meningitis, Hypereosinophilia, Unusual CNS infection, Irritability	ORPHA:74
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Atopic dermatitis, Hypomagnesemia, Recurrent otitis media, Cholestasis, Hepatosplenomegaly, Ische...	OMIM:619503
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Palpitations, Decreased circulating renin level, Hypokalemia, Hypertension	ORPHA:231580
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Epistaxis, Hypertension, Decreased circulating renin level	ORPHA:231632
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Decreased circulating renin level, Hypokalemia, Pulmonary a...	OMIM:615474
Sheehan Syndrome	Decreased female libido, Hashimoto thyroiditis, Amenorrhea, Antinuclear antibody positivity, Olig...	ORPHA:91355
Icf Syndrome	Abnormality of neutrophils, Umbilical hernia, Lymphopenia, Anemia, Recurrent respiratory infections	ORPHA:2268
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Autoimmunity, Skin rash, Keratoconjunctivitis sicca,...	ORPHA:79128
Aplasia Cutis-Myopia Syndrome	Meningitis	ORPHA:1117
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Hypertension, Decreased circulating renin level	OMIM:613677
Apparent Mineralocorticoid Excess	Hypokalemia, Hypertension, Decreased circulating renin level	ORPHA:320
Down Syndrome	Narrow palate, Macroglossia, Gastroesophageal reflux, Blepharitis, Polycythemia, Protruding tongu...	ORPHA:870
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia, Gastroesophageal reflux, High palate, Recurrent infections, Hyperten...	OMIM:300896
Nestor-Guillermo Progeria Syndrome	Flexion contracture, Lipoatrophy, Failure to thrive, Decreased serum leptin	OMIM:614008
Neurooculorenal Syndrome	Intestinal malrotation, Conjugated hyperbilirubinemia, Anteriorly placed anus	OMIM:620305
Waldenström Macroglobulinemia	Normocytic anemia, Memory impairment, Abnormality of neutrophils, Splenomegaly, Anorexia, Leukemi...	ORPHA:33226
Trichinellosis	Memory impairment, Confusion, Skin rash, Irritability, Conjunctivitis, Meningitis, Dysphagia	ORPHA:863
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hyperlipidemia, Hepatic steatosis, Mitral regurgitation,...	ORPHA:391665
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Spinal dysraphism, Intrauterine growth retardation, Large placenta, Hepatosplenomegaly, Polyhydra...	ORPHA:96334
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Inflammation of the large intestine, Recurrent pneumonia, Skin ra...	OMIM:617718
Sponastrime Dysplasia	Delayed epiphyseal ossification, Recurrent pneumonia, Neutropenia, Decreased circulating antibody...	ORPHA:93357
Beckwith-Wiedemann Syndrome	Subchorionic septal cyst, Polycythemia, Umbilical hernia, Large placenta, Splenomegaly, Polyhydra...	ORPHA:116
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Acne, Decreased circulating renin level, Hypokalemia, Intracranial hemorrhage, Hypertension	ORPHA:90795
Hereditary Xanthinuria	Rheumatoid arthritis, Gout, Arthropathy	ORPHA:3467
Familial Mediterranean Fever	Depression, Erysipelas, Leukocytosis, Skin rash, Splenomegaly, Orchitis, Peritonitis, Pancreatiti...	ORPHA:342
Gorham-Stout Disease	Meningitis, Osteomyelitis	ORPHA:73
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Anteriorly placed anus, Hypertrophic cardiomyopathy, Mitral regurgitation, Hyperammonemia, Microv...	OMIM:220111
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Oligomenorrhea, Emotional lability	OMIM:219090
Granulomatosis With Polyangiitis	Autoimmunity, Otitis media, Skin rash, Increased inflammatory response, Prostatitis, Pancreatitis...	ORPHA:900
Restrictive Dermopathy 1	Premature rupture of membranes, Spontaneous chorioamniotic separation, Intrauterine growth retard...	OMIM:275210
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Macroglossia, Transient neutropenia, Chronic neutropenia	ORPHA:500095
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Recurrent upper respiratory tract infections, Absent natural killer cells, Recurrent o...	OMIM:600802
Thauvin-Robinet-Faivre Syndrome	Macroglossia, Transient neutropenia	OMIM:617107
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Recurrent urinary tract infections, Recurrent otitis media, Hepatic steatosis, Submuc...	ORPHA:3455
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:601399
Giant Cell Arteritis	Depression, Anorexia, Arthritis, Recurrent pharyngitis, Meningitis, Pericarditis	ORPHA:397
Acute Transverse Myelitis	Severe viral infection, Priapism, Systemic lupus erythematosus, Invasive parasitic infection, Dis...	ORPHA:139417
Plague	Inflammation of the large intestine, Depression, Lymphadenitis, Chapped lip, Skin rash, Splenomeg...	ORPHA:707
Storage Pool Platelet Disease	Prolonged bleeding time	OMIM:185050
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Hypertension, Decreased circulating renin level	ORPHA:90793
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Brain abscess, Severe viral infection, Leukocytosis, Severe infection, Pancreatitis, T...	ORPHA:544482
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:614800
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Keratitis, Eczematoid dermatitis, Recurrent respiratory infections, Episcleritis, Scleritis, Agan...	ORPHA:2273
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Pneumonia, Abnormal fear-induced behavior, Recurrent urinary tract infec...	ORPHA:353281
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Self-injurious behavior, Pneumonia, Abnormal fear-induced behavior, Recurrent urinary tract infec...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Self-injurious behavior, Pneumonia, Abnormal fear-induced behavior, Recurrent urinary tract infec...	ORPHA:353277
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Hypertension, Decreased circulating renin level	OMIM:202010
Arachnoiditis	Meningitis	ORPHA:137817
Hutchinson-Gilford Progeria Syndrome	Insulin resistance, Delayed menarche, Absence of subcutaneous fat, Severe failure to thrive, Weig...	ORPHA:740
Hereditary Sensory And Autonomic Neuropathy Type 4	Recurrent aspiration pneumonia, Septic arthritis, Fasciitis, Osteomyelitis, Abscess, Orthostatic ...	ORPHA:642
Sacral Defect With Anterior Meningocele	Myelomeningocele, Myeloschisis, Rectal abscess, Meningitis, Meningocele, Dermal sinus tract	OMIM:600145
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Anteriorly placed anus, Decreased circulating renin level, Hyponatremia, Craniosynostosis, Hyperk...	OMIM:201750
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:618019
Hydranencephaly	Meningitis, Intrauterine growth retardation	ORPHA:2177

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 C3

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 C3.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Discovery and validation of genes driving drug-intake and related behavioral traits in mice.	Genes, brain, and behavior (January 2024)	C3^{tm1.1(KOMP)Vlcg}	PMC10780947
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program.	PloS one (July 2017)	C3^{tm1.1(KOMP)Vlcg}	PMC5503261

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
C3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
C3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
C3^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	Mice, ES Cells
C3^{tm1.1(KOMP)Vlcg}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: C3 MGI:88227

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

X-ray

Adult LacZ

Sleep Wake

X-ray

Eye Morphology

Eye Morphology

X-ray

Embryo LacZ

Electroretinography

Electroretinography

Auditory Brain Stem Response

Human diseases caused by C3 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data