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Gene: Pik3c2a MGI:1203729

Gene Summary

Name:

phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha

Synonyms:

PI3KC2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased locomotor activity	Pik3c2a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.21×10^-05
embryonic lethality prior to tooth bud stage	Pik3c2a^{tm1b(EUCOMM)Hmgu}	HOM	E12.5	0.00
increased neutrophil cell number	Pik3c2a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.31×10^-14
preweaning lethality, complete penetrance	Pik3c2a^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
abnormal embryo size	Pik3c2a^{tm1b(EUCOMM)Hmgu}	HOM	E9.5	0.00
enlarged lymph nodes	Pik3c2a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	0.00
embryonic growth retardation	Pik3c2a^{tm1b(EUCOMM)Hmgu}	HOM	E9.5	0.00
decreased lymphocyte cell number	Pik3c2a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.67×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy	Images	Zygosity	Mutant Expr
Axial skeleton	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	22.22% (2 of 9)
Central nervous system ganglion	N/A	heterozygote	100% (2 of 2)
Ear	N/A	heterozygote	22.22% (2 of 9)
Embryo	N/A	heterozygote	88.89% (8 of 9)
Eye	N/A	heterozygote	22.22% (2 of 9)
Footplate	N/A	heterozygote	0.0% (0 of 9)
Forebrain	N/A	heterozygote	22.22% (2 of 9)
Forelimb	N/A	heterozygote	22.22% (2 of 9)
Gut	N/A	heterozygote	100% (2 of 2)
Handplate	N/A	heterozygote	0.0% (0 of 9)
Head	N/A	heterozygote	0.0% (0 of 9)
Heart	N/A	heterozygote	22.22% (2 of 9)
Hindbrain	N/A	heterozygote	22.22% (2 of 9)
Hindlimb	N/A	heterozygote	22.22% (2 of 9)
Liver	N/A	heterozygote	22.22% (2 of 9)
Lung	N/A	heterozygote	22.22% (2 of 9)
Mandibular process	N/A	heterozygote	22.22% (2 of 9)
Maxillary process	N/A	heterozygote	22.22% (2 of 9)
Midbrain	N/A	heterozygote	22.22% (2 of 9)
Nose	N/A	heterozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	22.22% (2 of 9)
Skeleton	N/A	heterozygote	100% (2 of 2)
Skin	N/A	heterozygote	0.0% (0 of 9)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Tail somite	N/A	heterozygote	22.22% (2 of 9)
Tail	N/A	heterozygote	0.0% (0 of 9)
Trachea	N/A	heterozygote	100% (2 of 2)
Urinary system	N/A	heterozygote	100% (2 of 2)

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

Anatomy	Background staining in controls (WT)

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)
axial skeleton	Ambiguous
brain	0.0%
central nervous system ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
gut	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%
skeleton	Ambiguous
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%
trachea	Ambiguous
urinary system	Ambiguous

5 Images

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Human diseases caused by Pik3c2a 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 Pik3c2a (2 diseases)
Human diseases predicted to be associated with Pik3c2a (1647 diseases)

The table below shows human diseases associated to Pik3c2a by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Oculoskeletodental Syndrome		Renal agenesis, Elbow flexion contracture, Splenomegaly, Hypocalcemia, Mucopolysacchariduria, Hyp...	OMIM:618440
Oculoskeletodental Syndrome		Nephrocalcinosis, Hypocalcemia, Enamel hypoplasia, Short stature, Hypercalcemia	ORPHA:557003

The table below shows human diseases predicted to be associated to Pik3c2a by phenotypic similarity.

Disease	Matching phenotypes	Source
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Bleeding Disorder, Platelet-Type, 22	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:618462
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm...	OMIM:615193
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired arachidonic acid-induced platelet aggregation, Abnormal platelet count, Impaired thrombo...	OMIM:614009
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Bleeding Disorder, Platelet-Type, 11	Impaired ristocetin-induced platelet aggregation, Abnormal platelet count, Impaired collagen-indu...	OMIM:614201
Athrombia, Essential	Impaired platelet adhesion, Prolonged bleeding time, Impaired platelet aggregation	OMIM:209050
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Impaired arachidonic ac...	OMIM:601399
Glanzmann Thrombasthenia 1	Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet...	OMIM:273800
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Glanzmann Thrombasthenia 2	Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Impaired ADP-induced platelet...	OMIM:619267
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Giant platelets, Leukocyte inclusion bodies, Prolonged bleeding time, Impaired ADP-induced platel...	OMIM:155100
Platelet Disorder, Undefined	Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He...	OMIM:603909
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Mesangial Immune complex d...	OMIM:613496
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll...	OMIM:620486
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Decreased specific pneumococcal antibody level, Autoimmunity, ...	OMIM:617006
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid...	OMIM:615008
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre...	OMIM:617443
Immunodeficiency 27A	Hypoalbuminemia, Pneumonia, Rheumatoid factor positive, Increased circulating IgG level, Hepatosp...	OMIM:209950
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Hepatos...	OMIM:618534
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol ...	ORPHA:470
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Renal...	OMIM:619644
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Failure to thrive, Anti-beta-2-Glycoprotein I IgG antibod...	OMIM:618048
Bleeding Disorder, Platelet-Type, 18	Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Impaired epinephrine-induced ...	OMIM:615888
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Growth delay, Beta 2-microglobulinuria, Glyco...	ORPHA:97362
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell...	OMIM:300835
Autoimmune Lymphoproliferative Syndrome	Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He...	OMIM:601859
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot...	ORPHA:329918
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium...	ORPHA:567544
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre...	OMIM:617056
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Reni Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Lympho...	OMIM:617575
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Elevated...	ORPHA:85450
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren...	ORPHA:54370
Lcat Deficiency	Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glomerular filtration rat...	ORPHA:650
Immunodeficiency 69	Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome...	OMIM:618963
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Autoimmunity, Splenomegaly, Follicular hyperplasia, Increased circulating antibody ...	OMIM:614470
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Ascites, Stage 5 chr...	OMIM:603278
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E...	OMIM:174000
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ...	OMIM:139090
Hermansky-Pudlak Syndrome 3	Abnormal number of dense granules, Impaired platelet aggregation	OMIM:614072
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Failure to thrive, Hypomagnesemia, Hyperechogenic kidneys, Pancytopenia, ...	OMIM:613845
Bernard-Soulier Syndrome	Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo...	OMIM:231200
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid...	ORPHA:567548
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop...	OMIM:619374
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Recurrent urinary tract infections, Recurre...	OMIM:612783
Heme Oxygenase 1 Deficiency	Nephritis, Increased circulating interleukin 6 concentration, Growth delay, Increased circulating...	OMIM:614034
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Failure to thrive, Hepa...	OMIM:619858
Autoimmune Lymphoproliferative Syndrome	Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea...	ORPHA:3261
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th...	OMIM:102700
Myh9-Related Disease	Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto...	ORPHA:182050
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ...	OMIM:619375
Lipodystrophy, Partial, Acquired, Susceptibility To	Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L...	OMIM:608709
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatit...	OMIM:620565
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil...	OMIM:232220
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate...	OMIM:153670
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ...	OMIM:617780
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Lymphopenia, Abnormal lymphocyte physiology, Disp...	ORPHA:1830
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne...	OMIM:619281
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemopha...	OMIM:308240
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope...	OMIM:187900
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Incr...	ORPHA:340
Drug-Induced Lupus Erythematosus	Malar rash, Elevated circulating creatine kinase concentration, Hematuria, Lupus anticoagulant, A...	ORPHA:231111
Platelet Glycoprotein Iv Deficiency	Giant platelets, Prolonged bleeding time, Thrombocytopenia	OMIM:608404
Von Willebrand Disease, Type 3	Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Growth delay, Hyperlipidemia, Renal insufficiency, Congenital nephrotic syndrome...	OMIM:256300
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Bleeding Disorder, Platelet-Type, 8	Impaired ADP-induced platelet aggregation	OMIM:609821
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Diffuse Alveolar Hemorrhage	Antineutrophil antibody positivity, Elevated circulating creatinine concentration, Autoimmunity, ...	ORPHA:90060
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, IgA depos...	OMIM:616730
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased proportio...	ORPHA:169154
Atypical Hemolytic Uremic Syndrome	Decreased circulating complement factor B concentration, Acute kidney injury, Abnormality of comp...	ORPHA:2134
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Failure to thrive, Hepatitis, Eczematoid dermatitis, Increased circulating IgE level, Anti-glutam...	OMIM:304790
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Rheumatoid factor positive, Pustular rash, Lymphopenia, Leukopenia, Malar rash...	OMIM:615934
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N...	OMIM:619220
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612925
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom...	ORPHA:93598
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Cellulitis, Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating I...	OMIM:615513
Nephrotic Syndrome, Type 9	Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ...	OMIM:615573
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
Nephrotic Syndrome, Type 3	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:610725
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:618348
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612926
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Renal insufficiency, Me...	OMIM:613779
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Fai...	OMIM:615592
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Systemic Lupus Erythematosus 16	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, De...	OMIM:614420
Von Willebrand Disease, Platelet-Type	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Acquired Partial Lipodystrophy	Autoimmunity, Hepatic steatosis, Proteinuria, Glomerulopathy, Lymphocytosis, Decreased circulatin...	ORPHA:79087
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Multiple Myeloma	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Decreased circul...	ORPHA:29073
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Cellulitis, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee ...	OMIM:604416
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:614131
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Recu...	OMIM:617303
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem...	OMIM:600995
Preeclampsia	Chronic kidney disease, Acute kidney injury, Abnormality of the hepatic vasculature, Elevated cir...	ORPHA:275555
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Eczemato...	ORPHA:98813
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Claw hand deformity, Elevated...	OMIM:614455
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, ...	OMIM:308230
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, An...	OMIM:617388
Immunodeficiency 25	Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif...	OMIM:610163
Trichohepatoenteric Syndrome 1	Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Hypospadias, Galactosuria, Small for gestational ...	OMIM:222470
Simple Cryoglobulinemia	Nephritis, Monoclonal immunoglobulin M proteinemia, Rheumatoid factor positive, Paraproteinemia, ...	ORPHA:91139
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Cyclic neutropenia, Decr...	OMIM:232240
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Chronic k...	ORPHA:656
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Systemic Lupus Erythematosus	Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Antinuclear antibody positivity,...	OMIM:152700
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Nephronophthisis, Polyuria	OMIM:606996
Autoimmune Hepatitis	Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone...	ORPHA:2137
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Growth delay, Failure to thrive, Low-molec...	ORPHA:18
Transcobalamin Deficiency	Decreased circulating IgG level, Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancyt...	ORPHA:859
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Decreased circulating complement factor B concentration, Acute kidney injury, Anuria, Microangiop...	OMIM:235400
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti...	ORPHA:449395
Nephronophthisis 9	Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyuria, Anemia,...	OMIM:613824
Galloway-Mowat Syndrome 8	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, P...	OMIM:618349
Histiocytosis, Familial Lipochrome	Increased circulating antibody level, Histiocytosis, Increased alpha-globulin	OMIM:235900
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Loss of subcutaneous adipose tissue from upper limbs, Loss of facial adipose tissue, Proteinuria,...	OMIM:613913
Insulin-Resistance Syndrome Type B	Systemic lupus erythematosus, Decreased body weight, Increased body weight, Weight loss, Increase...	ORPHA:2298
Nephrotic Syndrome, Type 8	Hypoalbuminemia, Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidne...	OMIM:615244
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:618495
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ...	OMIM:615285
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Hyperuri...	OMIM:162000
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem...	ORPHA:54057
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating antibody level, Scleritis, Weight loss, Elevated circulating C-reactive pro...	ORPHA:91500
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasiform dermatitis, Hematuria, Weight lo...	ORPHA:49041
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Renal ...	OMIM:242900
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate,...	OMIM:242530
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul...	ORPHA:93126
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Skin rash, Maculopapular exanthema, Ly...	ORPHA:83313
Nephrotic Syndrome, Type 15	Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5...	OMIM:617609
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Failure to thrive in infancy, Leukocytosis, Panniculitis, Skin rash, Increased proportion of CD4-...	OMIM:617099
Neuroleptic Malignant Syndrome	Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Aspiration pneumonia, Leukocytosis, Hypoc...	ORPHA:94093
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Decreased circulatin...	ORPHA:397596
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:618176
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ...	ORPHA:100024
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g...	OMIM:613388
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Prolonged bleeding tim...	OMIM:614074
Syndromic Diarrhea	Hepatic fibrosis, Renal hypoplasia, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the liv...	ORPHA:84064
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Obesity, Proteinuria, Episodic hemolytic anemia, Increased blo...	ORPHA:251004
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulating complement...	ORPHA:449400
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Hepatosplenomegaly, Hepatic steatosis, Chilblains, Weight...	OMIM:619487
Preeclampsia/Eclampsia 1	Proteinuria, Intrauterine growth retardation, Thrombocytopenia	OMIM:189800
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Focal segmental glomerulosclerosis, Intrauterine growth retardation, Decreased b...	OMIM:618347
Coenzyme Q10 Deficiency, Primary, 6	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:614650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	OMIM:612924
Malaria	Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, T...	ORPHA:673
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Decreased circulating IgG level, Proximal tubulopathy, Failure...	OMIM:212065
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato...	ORPHA:99867
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Growth delay, Decreased glomerular filtration rate, Xanthelas...	OMIM:232200
Relapsing Fever	Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu...	ORPHA:91547
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,...	OMIM:617514
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Hyperbilirubinemia, Splenic cyst, Abscess, Hepatic...	ORPHA:400
Nephrotic Syndrome, Type 24	Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic...	OMIM:619263
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc...	OMIM:619468
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren...	ORPHA:99845
C1Q Deficiency 1	Decreased circulating complement factor I concentration, Autoimmunity, Membranoproliferative glom...	OMIM:613652
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Failure to thrive in infancy...	OMIM:617241
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hypopho...	OMIM:616963
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Orthostatic Hypotension 2	Anemia, Decreased glomerular filtration rate	OMIM:618182
Immunodeficiency 23	Allergic rhinitis, Failure to thrive, Rheumatoid factor positive, Eczematoid dermatitis, Increase...	OMIM:615816
Immunodeficiency 53	Recurrent pneumonia, Failure to thrive, Recurrent urinary tract infections, Recurrent otitis medi...	OMIM:617585
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinur...	OMIM:620010
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Tempi Syndrome	Increased hematocrit, Polycythemia, Increased circulating IgG level	ORPHA:284227
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome...	OMIM:617730
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia, Increase...	ORPHA:37748
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Pancytopenia, Elevated circulating creatine kinase concentrat...	OMIM:607426
Juvenile Arthritis	Antinuclear antibody positivity, Leukocytosis, Skin rash, Thrombocytosis	OMIM:618795
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Eczematoid dermatitis, Systemic lupus erythematosus, Leukopenia, Acu...	OMIM:616871
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero...	OMIM:256370
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
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen...	OMIM:618982
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Hypomature enamel, Hematuria, Macroscopic hematuria, A...	OMIM:248250
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo...	OMIM:618999
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Renal insufficiency, Hyperammonemia, Splenomegaly, Hepatomegaly, Pancreatitis,...	ORPHA:79312
Idiopathic Pulmonary Hemosiderosis	Antineutrophil antibody positivity, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Antinucl...	ORPHA:99931
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r...	OMIM:620049
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Bacterial Toxic-Shock Syndrome	Cellulitis, Abscess, Glomerulonephritis, Recurrent skin infections, Elevated circulating creatini...	ORPHA:36234
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis...	OMIM:274150
Nephrotic Syndrome, Type 12	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616892
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome...	OMIM:618594
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis, Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Blue Diaper Syndrome	Nephrocalcinosis, Hyperphosphatemia, Increased body weight, Blue urine, Hypercalcemia	ORPHA:94086
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Rhizomelia, Elevated circulating creatinine concentration, Stage 5 chronic kidn...	OMIM:614376
Pelger-Huet Anomaly	Giant platelets, Failure to thrive, Eczematoid dermatitis, Umbilical hernia, Recurrent otitis med...	OMIM:169400
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Glycosuria, Renal tubular cyst, Elevated circulating creatinine concentration, ...	OMIM:614817
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Disproportionate short stature, Hyperechogenic kidneys, Lymphopenia, Leukopenia, Elevated circula...	OMIM:301110
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Hyperphosphatemia, Chronic mucocutaneous candidiasis, Hypocalcemic tetan...	ORPHA:36913
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria,...	OMIM:143880
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Renal insufficiency, Hyperammonemia, Hepatomegaly, Anemia	ORPHA:28
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Proteinuria, Hypertriglyceridemia, ...	OMIM:245900
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo...	OMIM:615861
Nephrotic Syndrome, Type 6	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c...	OMIM:614196
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Eczematoid dermatitis, Elevated haptoglobin lev...	OMIM:620632
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Failure to thrive, Splenomegaly, Hyperphosphaturia, Hepatomegaly, Hypophosphatemia...	OMIM:239200
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Recurrent viral pneumonia, Increased circulating I...	OMIM:619773
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Splenomegaly, Inc...	OMIM:619868
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Intrauterine growth retard...	OMIM:301006
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi...	OMIM:620449
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased glomerular fil...	OMIM:602522
Congenital Disorder Of Glycosylation, Type Iig	Rhizomelia, Giant platelets, Failure to thrive in infancy, Postnatal growth retardation, Intraute...	OMIM:611209
Immunodeficiency 32B	Hypoalbuminemia, Pneumonia, Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG...	OMIM:226990
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Lupus anticoagulant, Eryth...	OMIM:615688
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency	OMIM:249660
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Hepatomegaly, Pancreatitis, Throm...	ORPHA:289916
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Essential Thrombocythemia	Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho...	ORPHA:3318
Erythrocytosis, Familial, 2	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:263400
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Growth delay, Myoglobinuria, Hyperkalemia, Hemolytic anemia, Elevated creati...	ORPHA:57
Bleeding Disorder, Platelet-Type, 12	Impaired platelet aggregation	OMIM:605735
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s...	OMIM:616893
Tyrosinemia, Type I	Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, ...	OMIM:276700
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Senior-Loken Syndrome 1	Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:266900
Nephronophthisis	Anemia, Renal insufficiency	ORPHA:655
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema...	OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency	OMIM:607832
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Failure to thrive, Hyperaldosteronism, Decreased glomerular fil...	OMIM:613090
Combined Oxidative Phosphorylation Deficiency 34	Failure to thrive, Elevated circulating creatinine concentration, Pancytopenia, Hepatic steatosis...	OMIM:617872
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Growth delay, Lymphopenia, Decreased circulating IgA level, Auto...	OMIM:616005
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Failure to thrive, Eczematoid dermatitis, Decreased C...	OMIM:607271
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Failure to thrive, Intrauterine growth retardation, Stage 5 chronic kidney disea...	OMIM:617729
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia, Increased ci...	ORPHA:2688
Beta-Ketothiolase Deficiency	Ketonuria, Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Thrombocytosis, Hepatomegaly	ORPHA:134
Hermansky-Pudlak Syndrome 11	Reduced platelet dense granules, Impaired collagen-induced platelet aggregation	OMIM:619172
Celiac Disease, Susceptibility To, 1	Failure to thrive, Eczematoid dermatitis, Postnatal growth retardation, Decreased circulating IgA...	OMIM:212750
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Neutropenia, Hepatomegaly, Otitis media, Inguinal hernia, Erythr...	OMIM:612541
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Elevated urine mevaloni...	OMIM:260920
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Growth delay, Stage 5 chronic kidney ...	OMIM:256100
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Growth delay, Intestinal lymphangiectasia, Ascites, Hepatomegaly, Iron deficienc...	OMIM:226300
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Enamel hypomineralization, Iron deficiency anemia, Thrombocytopenia, Neutropenia, Increased mean ...	ORPHA:494444
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Pseudohypoparathyroidism, Type Ib	Low urinary cyclic AMP response to PTH administration, Obesity, Hyperphosphatemia, Hypocalcemia	OMIM:603233
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hyperthreoninemi...	ORPHA:247598
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Postnatal growth r...	OMIM:620366
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut...	OMIM:301082
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Nephropathy, Abnormality of the hepatic vasculature, Nodular regenerative hype...	ORPHA:247691
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Paraproteinemia, Elevated circulating creatinine conce...	ORPHA:439232
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Elevated circulating creatinine concentration, Postnatal growth retardation, Int...	OMIM:616733
Hyperprolinemia Type 1	Hyperprolinemia, Nephropathy, Prolinuria, Proteinuria	ORPHA:419
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Ketonuria, Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, Li...	ORPHA:20
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Impaired platelet aggregation	OMIM:614076
Galloway-Mowat Syndrome 10	Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ...	OMIM:619609
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Umbilical hernia, ...	OMIM:300555
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Hepatome...	OMIM:219800
Wiskott-Aldrich Syndrome	Nephropathy, Inflammation of the large intestine, Decreased proportion of CD8-positive T cells, L...	OMIM:301000
Complement Component 4A Deficiency	Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced circulating CH50 a...	OMIM:614380
Pseudohypoparathyroidism, Type Ic	Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Ob...	OMIM:612462
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia, Prolonged bleeding time	ORPHA:238459
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Mesangial hypercellularity, Antinuclear antibody positivity, Arthritis, Elevated circulating C-re...	OMIM:616414
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuri...	OMIM:254900
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch...	OMIM:617731
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Intrauterine growth retardation, Autoimmunity, Leukocytosis, Autoimmune hemolytic an...	OMIM:243150
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Antineutrophil antibody positivity, Cellulitis, Aplastic anemia, Periodontitis, Lympho...	ORPHA:486
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chr...	OMIM:614377
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Bone marrow hypocellularity, Decreased circulating IgG level, Conjunctivitis, He...	ORPHA:505248
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Systemic lupus erythematosus, Lymphopenia, Dark urine, Hematur...	ORPHA:93552
Postinfectious Vasculitis	Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating anti...	ORPHA:48435
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, P...	OMIM:618886
Nephronophthisis 4	Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tub...	OMIM:606966
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Von Willebrand Disease	Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:903
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia	OMIM:603585
Galactokinase Deficiency	Small for gestational age, Failure to thrive, Reduced circulating complement concentration, Hepat...	ORPHA:79237
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Muckle-Wells Syndrome	Renal amyloidosis, Recurrent aphthous stomatitis, Leukocytosis, Renal insufficiency, Elevated cir...	OMIM:191900
Diffuse Neonatal Hemangiomatosis	Ascites, Renal insufficiency, Renal hypoplasia/aplasia, Hepatomegaly, Thrombocytopenia, Anemia, H...	ORPHA:2123
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Failure to thrive, Hepatosplenomegaly, Distal renal tubular acidosis, Reticuloc...	OMIM:611590
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune thrombocytope...	ORPHA:444463
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Lymphopenia, Intrauterine growth retardation, Abdominal adhesions, Increased c...	OMIM:616395
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Ob...	OMIM:103580
Oculorenocerebellar Syndrome	Nephropathy, Glomerular sclerosis	OMIM:257970
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Cellulitis, Decreased circulating IgG level, Atopic dermatitis, Increased circulating interleukin...	OMIM:618944
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Abnormal circulating interleukin concentration, Hemophagocytos...	ORPHA:158057
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Anti-Sm antibody positivity, Lup...	OMIM:620376
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Renal insufficiency, Proteinuria, Glomerulopathy, Anemia, Hypercalcemia	ORPHA:2668
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Focal segmental glomerulosclerosis, Joint contracture of the hand, Intrauterine ...	OMIM:251300
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Jaundice, Uncon...	ORPHA:447
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia, Prolonged bleeding time	OMIM:185050
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Wolcott-Rallison Syndrome	Hypoalbuminemia, Chronic kidney disease, Growth delay, Ascites, Exocrine pancreatic insufficiency...	ORPHA:1667
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c...	ORPHA:90038
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Proteinuria, Macronodular cirrhosis, Mucopolysacchariduria, Abno...	OMIM:215250
Majeed Syndrome	Acne, Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Leukocytosis, Splen...	ORPHA:77297
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hydroxyprolinuria, Failure to thrive, Hyperuricemia, Hydroxyprolinemia, Hyperc...	OMIM:239000
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Glycogen Storage Disease Vi	Failure to thrive in infancy, Postnatal growth retardation, Hyperlipidemia, Increased hepatic gly...	OMIM:232700
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Failure to thrive in infancy, Decreased glomerular filtration rate, Prote...	ORPHA:488627
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func...	OMIM:240500
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Abnormal T cell count, Abnormal B cell count, Chronic decreased ...	OMIM:613495
Pseudohypoparathyroidism Type 1B	Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hy...	ORPHA:94089
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
Glanzmann Thrombasthenia	Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time	ORPHA:849
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
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Reduced natur...	OMIM:300400
Systemic Lupus Erythematosus	Anti-Sm antibody positivity, Hematuria, Weight loss, Decreased circulating complement C4 concentr...	ORPHA:536
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Anti-Glomerular Basement Membrane Disease	Autoimmunity, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis, Anemia	ORPHA:375
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Renal insufficiency, Hyperammonemia, Macrocytic anemia, Hepatomegaly, Pancreatitis, T...	ORPHA:27
Type 1 Diabetes Mellitus	Decreased level of 1,5 anhydroglucitol in serum, Polyuria, Autoimmunity	OMIM:222100
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Nephronophthisis 11	Hepatic fibrosis, Tubular basement membrane disintegration, Nephronophthisis, Growth delay, Stage...	OMIM:613550
Lesch-Nyhan Syndrome	Gout, Renal insufficiency, Hyperuricemia, Hematuria, Anemia	ORPHA:510
Nephrosialidosis	Nephropathy, Ascites, Renal insufficiency, Nephrotic syndrome, Bone-marrow foam cells	OMIM:256150
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Increased circulating ferritin concentration,...	OMIM:620603
Lipodystrophy, Congenital Generalized, Type 3	Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hepatic steatosis, Red...	OMIM:612526
Mirage Syndrome	Hypospadias, Microphallus, Recurrent urinary tract infections, Aspiration pneumonia, Lymphopenia,...	OMIM:617053
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:614199
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Conjuncti...	OMIM:607594
Interstitial Lung And Liver Disease	Aminoaciduria, Hepatic fibrosis, Intraalveolar phospholipid accumulation, Failure to thrive, Chol...	OMIM:615486
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati...	OMIM:618061
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary...	OMIM:619743
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Mesangial hypercellularity	OMIM:620425
Bardet-Biedl Syndrome 10	Renal cyst, Obesity, Renal insufficiency	OMIM:615987
Dent Disease	Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerul...	ORPHA:1652
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Increased circu...	ORPHA:829
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Growth delay, Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias	OMIM:619428
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Increased circulating beta-2-microglobulin level, Cryogl...	ORPHA:209004
Cockayne Syndrome Type 1	Foot joint contracture, Failure to thrive, Postnatal growth retardation, Renal insufficiency, Pro...	ORPHA:90321
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Impaired platelet aggregation	OMIM:618372
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Galactosemia I	Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Failure to thrive,...	OMIM:230400
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium...	OMIM:618314
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria	OMIM:620152
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Lymphopenia, Lymph node hypoplasia, Autoimmune thrombocyto...	OMIM:613179
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Methylmalonic aciduria, Failure to thrive, Pancytopenia, Decreas...	OMIM:275350
Bardet-Biedl Syndrome 16	Renal agenesis, Recurrent otitis media, Obesity, Stage 5 chronic kidney disease, Renal insufficie...	OMIM:615993
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria, Severe short stature	ORPHA:2820
Bardet-Biedl Syndrome 18	Obesity, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:615995
Coach Syndrome 3	Nephronophthisis, Portal fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Renal int...	OMIM:619113
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Inguinal hernia, Hydronephrosis, Thrombocytopenia, Camptodactyly, Hypo...	OMIM:616737
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Microcytic anemia, Recurrent otitis media, Inc...	OMIM:256040
Primary Biliary Cholangitis	Xanthelasma, Cirrhosis, Increased circulating IgA level, Hepatomegaly, Jaundice, Ascites, Abnorma...	ORPHA:186
Babesiosis	Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolyti...	ORPHA:108
Calciphylaxis	Cellulitis, Stage 5 chronic kidney disease, Hyperphosphatemia	ORPHA:280062
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Pos...	OMIM:620210
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Proteinuria, Anemia, Nephrotic syndrome, Short stature	ORPHA:1192
Yellow Fever	Acute kidney injury, Anuria, Pancreatic hyperplasia, Elevated circulating creatinine concentratio...	ORPHA:99829
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas...	ORPHA:274
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res...	ORPHA:331206
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ...	OMIM:613011
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Growth delay, Failure to thrive, Cholestasis, Splenomegaly, Re...	ORPHA:264580
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Postnatal growth retardation, Hypocalcemia, Severe intrauterine growth retarda...	OMIM:241410
Trimethylaminuria	Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia	OMIM:602079
Primary Sjögren Syndrome	Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, I...	ORPHA:289390
Von Willebrand Disease, Type 1	Prolonged bleeding time, Impaired platelet aggregation	OMIM:193400
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Inflammatory abnormality of the skin, Hypomagnesemia, Microcy...	ORPHA:398063
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn...	OMIM:212050
Bardet-Biedl Syndrome 14	Obesity, Renal insufficiency	OMIM:615991
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent urinar...	OMIM:614699
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:613502
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Reduced natural killer cell ...	OMIM:608233
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increase...	ORPHA:507
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decrea...	ORPHA:713
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Failure to thrive, Enterocolitis...	OMIM:301108
Kimura Disease	Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypocalcemic seizures	ORPHA:2239
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatosplenomegaly, Hypersplenism, Increased LDL cholesterol concentra...	OMIM:278000
Neutropenia, Chronic Familial	Periodontitis, Neutropenia, Increased circulating antibody level	OMIM:162700
Fanconi-Bickel Syndrome	Hypouricemia, Generalized aminoaciduria, Intrahepatic cholestasis, Ketonuria, Beta 2-microglobuli...	OMIM:227810
Galactosemia Iii	Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice, Hypergalact...	OMIM:230350
Nail-Patella-Like Renal Disease	Renal insufficiency, Proteinuria, Glomerulopathy, Short stature, Microscopic hematuria	ORPHA:2613
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Abnormal erythrocyte morphology, Superficial dermal perivascular infl...	ORPHA:324636
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Postnatal growth retardation, Splenomegaly, Renal tubular acidosis, Elevated ci...	ORPHA:79240
Tafro Syndrome	Increased circulating interleukin 6 concentration, Ascites, Hepatosplenomegaly, Leukocytosis, Spl...	ORPHA:457077
Immunodeficiency 96	Decreased circulating IgG level, Multicystic kidney dysplasia, Increased proportion of gamma-delt...	OMIM:619774
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cut...	OMIM:243700
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Skin rash, Proteinuria, Hematuria, Hep...	OMIM:105200
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatosplenomegaly, Increased LDL cholesterol concentration, Splenomeg...	OMIM:616828
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Renal agenesis, Persisten...	ORPHA:124
Galloway-Mowat Syndrome 9	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, ...	OMIM:619603
Pearson Syndrome	Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hep...	ORPHA:699
Glycogen Storage Disease Vii	Cholelithiasis, Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentrati...	OMIM:232800
Hepatic Veno-Occlusive Disease	Increased total bilirubin, Ascites, Renal insufficiency, Increased body weight, Hepatomegaly, Jau...	ORPHA:890
Acute Adrenal Insufficiency	Normocytic anemia, Failure to thrive, Autoimmunity, Renal insufficiency, Hyperuricemia, Hyponatre...	ORPHA:95409
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Xanthelasma, Hepatic steatosis, Tubulointerst...	ORPHA:79259
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration, Ulcerative colitis	OMIM:619398
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Growth delay, Failure to thrive, Hyperlipidemia, Increased hep...	ORPHA:369
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Umbilical hernia, Thrombocytopenia, Anti-platelet antigen antibody positiv...	OMIM:620475
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Hypohomocysteinemia, Growth delay, Failure to thrive, Hypocystinemia, Decreased circulating IgA l...	OMIM:617744
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Failure to thrive, Decreased circulating IgA level,...	OMIM:242860
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Inflammatory abnormality of the skin, Recurrent pneumonia, Absen...	ORPHA:277
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Legionnaires Disease	Cellulitis, Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegal...	ORPHA:549
Poems Syndrome	Visceromegaly, Polycythemia, Ascites, Splenomegaly, Increased circulating antibody level, Weight ...	ORPHA:2905
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Infantile Sialic Acid Storage Disease	Nephrotic syndrome, Failure to thrive, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuola...	OMIM:269920
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excretion, Increased renal...	OMIM:211900
Birk-Landau-Perez Syndrome	Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Failure to thrive in in...	OMIM:617595
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypochromic anemia, Failure to thrive, Postnatal growth retardation, L...	ORPHA:289157
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Sanjad-Sakati Syndrome	Hyperphosphatemia, Abnormal dental enamel morphology, Postnatal growth retardation, Hypocalcemia,...	ORPHA:2323
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Cystinosis	Nephropathy, Aminoaciduria, Failure to thrive, Renal insufficiency, Portal hypertension, Renal tu...	ORPHA:213
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis, Hyperphosphatemia, Disproportionate short-limb short stature, Intraute...	OMIM:101800
Bartter Syndrome, Type 2, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ...	OMIM:241200
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Fail...	OMIM:615767
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Cholestatic liver disease, Abnormal tubulointerstitial morph...	OMIM:602114
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insu...	OMIM:604387
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp...	OMIM:618892
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul...	ORPHA:555905
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Hema...	ORPHA:2035
Thyrocerebrorenal Syndrome	Nephritis, Renal insufficiency, Thrombocytopenia	ORPHA:3327
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG level, Peritoneal effusion, Growth delay, Hypomagnesem...	ORPHA:90362
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Cellulitis, Inflammation of the large intestine, Recurrent pneumo...	OMIM:617718
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Bartter Syndrome, Type 1, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Renal salt wasting, Renal potassium wasting, ...	OMIM:601678
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen...	OMIM:607616
Fibronectin Glomerulopathy	Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom...	ORPHA:84090
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Zika Virus Disease	Myelitis, Intrauterine growth retardation, Skin rash, Maculopapular exanthema, Infectious encepha...	ORPHA:448237
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Small for gestational age, Failure to thrive, Renal insufficiency, Hyperalaninemia, Hypochromic m...	OMIM:619147
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W...	ORPHA:276621
Cog4-Cdg	Failure to thrive in infancy, Hepatosplenomegaly, Cirrhosis, Hypercholesterolemia, Thrombocytopen...	ORPHA:263501
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ...	OMIM:618986
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Failure to thrive, Increased circulating IgE level, Leukocytosis, Pancolitis,...	OMIM:618213
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Ascites, Increased urinary O-linked sialopeptid...	OMIM:256550
Wolfram Syndrome 2	Decreased circulating antibody level, Impaired collagen-induced platelet aggregation	OMIM:604928
Gaisböck Syndrome	Increased red blood cell count, Nephrocalcinosis, Increased mean corpuscular hemoglobin concentra...	ORPHA:90041
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Short stature, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Hepatomegaly, ...	ORPHA:540
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Anti-glomerular basement membrane-antibod...	OMIM:233450
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glome...	ORPHA:567546
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level	OMIM:609529
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Hyp...	OMIM:603552
Gaucher Disease Type 1	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increased circulating antibody level, Hematuria,...	ORPHA:77259
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin...	OMIM:618459
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Autoimmunity, Cytoplasmic antineutrophil antibody positivity, M...	ORPHA:79078
Arima Syndrome	Hepatic fibrosis, Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Hepatic steatos...	OMIM:243910
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Megacystis, Polyuria, Short stature, Hypernatremia	OMIM:125800
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Failure to thrive, Cholestasis, Elevated circulating creatinine concentration, A...	OMIM:608104
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM	OMIM:606445
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Megacystis, Polyuria, Short stature, Hypernatremia	OMIM:304800
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ...	OMIM:300635
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Imerslund-Grasbeck Syndrome 1	Proteinuria, Microscopic hematuria, Megaloblastic anemia	OMIM:261100
Mevalonic Aciduria	Fluctuating splenomegaly, Failure to thrive, Failure to thrive in infancy, Morbilliform rash, Hep...	OMIM:610377
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Hemo...	OMIM:300653
Infection-Related Hemolytic Uremic Syndrome	Abnormal circulating chemokine concentration, Pneumonia, Acute kidney injury, Oliguria, Brain abs...	ORPHA:544482
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kin...	ORPHA:466650
Gitelman Syndrome	Hypocalciuria, Enuresis, Renal magnesium wasting, Failure to thrive, Hypomagnesemia, Chondrocalci...	OMIM:263800
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:613944
Immunodeficiency 43	Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp...	OMIM:241600
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:268200
Membranoproliferative Glomerulonephritis, X-Linked	Lipodystrophy, Membranoproliferative glomerulonephritis	OMIM:305800
Lysosomal Acid Lipase Deficiency	Hepatosplenomegaly, Hypersplenism, Xanthelasma, Cachexia, Weight loss, Renal salt wasting, Jaundi...	ORPHA:275761
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Abnormality of the liver, Renal insufficiency, Increased ci...	ORPHA:85443
Prolidase Deficiency	Recurrent pneumonia, Failure to thrive, Eczematoid dermatitis, Systemic lupus erythematosus, Sple...	OMIM:170100
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia, Proteinuria, Nephrotic syndrome	OMIM:614652
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu...	OMIM:610600
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hyperphosphaturia, Tooth abscess, Hypophosphatemia, Iron deficiency anemia, Growth ...	ORPHA:89937
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Hyperphosphatemia, Polyuria, Nephrolithiasis	OMIM:617994
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Inflammatory abnormality of the ...	ORPHA:94059
Sepsis In Premature Infants	Oliguria, Increased circulating interleukin 6 concentration, Leukocytosis, Splenomegaly, Reversib...	ORPHA:90051
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Unilateral renal agenesis, Postnatal growth retardation, Inguinal hernia, Abnormality of the lymp...	ORPHA:487796
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Pancytop...	OMIM:618394
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr...	OMIM:616050
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,...	OMIM:613500
Complement Factor H Deficiency	Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Decreased circulating ...	OMIM:609814
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Increased blood u...	ORPHA:230
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Cholestatic liver disease, Gl...	OMIM:613404
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Renal amyloidosis, Abnormal circulating selenium concentration, IgA depos...	ORPHA:79408
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Failure to thrive, Leukopenia, Stage 5 chronic kidney disease, Hyperglyci...	OMIM:251000
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Oliguria, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, L...	ORPHA:514
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Hypervalinemia, Increa...	OMIM:620085
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po...	OMIM:312863
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase aft...	ORPHA:423
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Castleman Disease	Mediastinal lymphadenopathy, Increased circulating interleukin 6 concentration, Ureteral obstruct...	ORPHA:160
Alport Syndrome	Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m...	ORPHA:63
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:300853
Generalized Pustular Psoriasis	Hypoalbuminemia, Cheilitis, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Renal insufficiency...	ORPHA:247353
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Autoimmune thrombocyt...	ORPHA:436159
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Failure to...	OMIM:618987
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo...	OMIM:300009
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d...	OMIM:614723
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati...	OMIM:612692
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,...	OMIM:613494
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hypocalcemia, Hepatomegaly, Dysgammaglobulinemia, Lymphadenopathy, Anemia,...	ORPHA:100025
Gitelman Syndrome	Urinary incontinence, Tubulointerstitial nephritis, Renal potassium wasting, Focal segmental glom...	ORPHA:358
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Early-Onset Familial Hypoaldosteronism	Failure to thrive, Postnatal growth retardation, Renal sodium wasting, Hyponatremia, Elevated ser...	ORPHA:556030
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Diamond-Blackfan Anemia 1	Renal hypoplasia, Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin...	OMIM:105650
Late-Onset Familial Hypoaldosteronism	Failure to thrive, Postnatal growth retardation, Renal sodium wasting, Hyponatremia, Elevated ser...	ORPHA:556037
Fanconi-Bickel Syndrome	Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria, Failure to thrive, Abnormal...	ORPHA:2088
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I...	OMIM:300971
Colchicine Poisoning	Oliguria, Hypomagnesemia, Leukocytosis, Hypocalcemia, Renal insufficiency, Hypokalemia, Hyponatre...	ORPHA:31824
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge...	OMIM:223900
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hyperaldosteronism, Increased urinary potassiu...	OMIM:607364
Hypocomplementemic Urticarial Vasculitis	Ascites, Reduced circulating complement concentration, Autoimmunity, Renal insufficiency, Splenom...	ORPHA:36412
Gaucher Disease	Pancytopenia, Increased circulating antibody level, Hematuria, Cirrhosis, Polyclonal elevation of...	ORPHA:355
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Decreased s...	OMIM:614576
Kenny-Caffey Syndrome, Type 2	Severe short stature, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia, Anemia, Small ...	OMIM:127000
Hermansky-Pudlak Syndrome 6	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:614075
Lead Poisoning	Chronic kidney disease, Abnormality of humoral immunity, Small for gestational age, Imbalanced he...	ORPHA:330015
Complement Factor I Deficiency	Decreased circulating complement factor B concentration, Recurrent urinary tract infections, Recu...	OMIM:610984
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta...	OMIM:277400
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Hypomagnesemia, Hyperaldosteronism, Renal sodium wasting, Hypokalemia, P...	OMIM:612780
Juvenile Nephropathic Cystinosis	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Aminoaciduria, A...	ORPHA:411634
Corticosterone Methyloxidase Type I Deficiency	Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Growth delay, Increased circul...	OMIM:203400
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,...	OMIM:618913
Immunodeficiency 48	Pneumonia, Failure to thrive, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell co...	OMIM:269840
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Cellulitis, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysac...	OMIM:606367
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Hypocalcemia, Disproportionate short-limb short stature	OMIM:618618
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W...	ORPHA:29072
Autosomal Dominant Hypocalcemia	Nephrocalcinosis, Hyperphosphatemia, Eczematoid dermatitis, Hypomagnesemia, Hypocalcemia, Hyperca...	ORPHA:428
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94090
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Obesity, Hepati...	OMIM:615703
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Aminoaciduria, Nephrocalcinosis, Glycosuria, Large for gestational age, Hyperphosph...	OMIM:616026
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Systemic Sclerosis	Chronic kidney disease, Acute kidney injury, Anti-centromere antibody positivity, Osteomyelitis, ...	ORPHA:90291
Kawasaki Disease	Hypoalbuminemia, Sterile pyuria, Hepatitis, Conjunctivitis, Cervical lymphadenopathy, Leukocytosi...	ORPHA:2331
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Cryoglobulinemic Vasculitis	Abnormality of the liver, Renal insufficiency, Splenomegaly, Cryoglobulinemia, Hematuria, Protein...	ORPHA:91138
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit...	ORPHA:169160
Hematuria, Benign Familial, 2	Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria	OMIM:620320
Free Sialic Acid Storage Disease	Failure to thrive in infancy, Ascites, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic syndrome	ORPHA:834
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Hypercholesterolemia	OMIM:608320
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr...	OMIM:615605
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Hyperglycinemia, Hyperamylasemia, Renal insufficiency, Elevated circulating creati...	OMIM:619386
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Ob...	ORPHA:79443
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
Immunodeficiency 104	Pneumonia, Eczematoid dermatitis, Failure to thrive secondary to recurrent infections, Chronic mu...	OMIM:608971
Ataxia-Pancytopenia Syndrome	Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Dysmetria, Thrombocytopenia, Neutropenia, An...	OMIM:159550
Coccidioidomycosis	Abnormality of the spleen, Morbilliform rash, Abscess, Abnormality of the kidney, Erythema nodosu...	ORPHA:228123
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Ascites, Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyceride...	OMIM:618183
Rift Valley Fever	Hepatitis, Skin rash, Infectious encephalitis, Hematuria, Thrombocytopenia, Increased circulating...	ORPHA:319251
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Inflammation of the large intestine, Cholestasis, Hyperbilirubinemia, Granulomatous cholangitis, ...	ORPHA:562639
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb...	ORPHA:729
Glycogen Storage Disease Ixa1	Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Growth delay	OMIM:306000
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Proximal tubulopathy, Polyuria, Failure to thrive	OMIM:560000
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Short stature, Neutropenia	OMIM:610798
Hypophosphatemic Rickets, X-Linked Dominant	Renal phosphate wasting, Hepatosplenomegaly, Hypophosphatemic rickets, Enamel hypomineralization,...	OMIM:307800
Galactose Epimerase Deficiency	Aminoaciduria, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay	ORPHA:79238
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Pseudohypoparathyroidism Type 1C	Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Ob...	ORPHA:79444
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole...	OMIM:300554
Addison Disease	Normocytic anemia, Thymoma, Failure to thrive, Autoimmunity, Hyperuricemia, Thiamine-responsive m...	ORPHA:85138
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni...	OMIM:613095
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Rhabdomyolysis, Susceptibility To, 1	Renal insufficiency, Abnormal circulating acylcarnitine concentration, Elevated circulating creat...	OMIM:620235
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Lymphopenia, Decrease...	OMIM:616100
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Renal phosphate wasting, Calcium nephrolithiasis, Failure to thrive, Hypophosphatemic rickets, Re...	OMIM:241530
Immunodeficiency 22	Decreased circulating IgG level, Failure to thrive, Ascites, Decreased circulating IgA level, Aut...	OMIM:615758
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Posterolateral d...	OMIM:194080
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Conjunctivitis, Lymphopenia, Splenomegaly, Skin rash, Increased circulating an...	OMIM:617591
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Primary Sclerosing Cholangitis	Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Weight loss, Cirrhosis, Polyc...	ORPHA:171
Crimean-Congo Hemorrhagic Fever	Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundic...	ORPHA:99827
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad...	ORPHA:3392
Alg12-Cdg	Hypoalbuminemia, Recurrent pneumonia, Failure to thrive, Abnormal circulating IgM level, Hypochol...	ORPHA:79324
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal ...	OMIM:614748
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s...	OMIM:618969
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, H...	OMIM:179800
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
X-Linked Agammaglobulinemia	Cellulitis, Weight loss, Neutropenia, Chronic otitis media, Recurrent cutaneous abscess formation...	ORPHA:47
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology	OMIM:615214
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Bardet-Biedl Syndrome 17	Obesity, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis	OMIM:615994
Beta-Thalassemia Intermedia	Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, ...	ORPHA:231222
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Macrophage Activation Syndrome	Hemophagocytosis, Systemic lupus erythematosus, Neutropenia, Hepatomegaly, Elevated circulating C...	ORPHA:158061
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Growth delay, Hypocalcemic tetany, Postnatal growth retardation, Intrauterine ...	ORPHA:93325
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Increased circulating beta-C-terminal telopeptide concentration, Medullary nephrocalcinosis, Hypo...	ORPHA:157215
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Increased serum bile acid conc...	OMIM:619377
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Hepatomegaly, Macrovesicular hepatic steatosis, Polycystic kid...	OMIM:608836
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, E...	OMIM:611881
Selective Igm Deficiency	Allergic rhinitis, Cellulitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus,...	ORPHA:331235
Senior-Boichis Syndrome	Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega...	ORPHA:84081
Cednik Syndrome	Proteinuria, Nephrotic syndrome, Short stature	ORPHA:66631
Asthma, Short Stature, And Elevated Iga	Short stature, Increased circulating IgA level	OMIM:208600
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Increased circulating antibody level, Jaundic...	ORPHA:99826
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration	OMIM:616239
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Familial Isolated Hyperparathyroidism	Nephrocalcinosis, Chondrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hy...	ORPHA:99879
Cholesteryl Ester Storage Disease	Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Jaundice	ORPHA:75234
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro...	ORPHA:3260
Frasier Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:136680
Systemic Capillary Leak Syndrome	Oliguria, Leukocytosis, Renal insufficiency, Weight loss, Abnormal renal tubule morphology, Pancr...	ORPHA:188
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate...	OMIM:120330
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia	OMIM:615401
Igg4-Related Submandibular Gland Disease	Abnormal pancreas morphology, Increased circulating IgE level, Increased circulating IgG4 level, ...	ORPHA:449432
Proteasome-Associated Autoinflammatory Syndrome 5	Failure to thrive in infancy, Skin rash, Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:619175
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Hematuria, Antiphospholipid antibody po...	ORPHA:781
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:161950
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease...	ORPHA:228302
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple...	ORPHA:449427
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, D...	OMIM:614069
Cystinuria	Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu...	OMIM:220100
Omenn Syndrome	Pneumonia, Failure to thrive, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenom...	ORPHA:39041
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Frasier Syndrome	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa...	ORPHA:347
Renal Glucosuria	Enuresis nocturna, Glycosuria, Polyuria	OMIM:233100
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Antineutrophil antibody positivity,...	OMIM:301078
Laron Syndrome	Severe short stature, Delayed puberty, Hypercholesterolemia, Osteoarthritis, Truncal obesity, Hyp...	ORPHA:633
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat...	OMIM:618935
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Renal insufficiency, Skin rash, Interstitial pneumonitis, Infectious encephalitis, Pus...	ORPHA:139402
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia	OMIM:609886
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Renal insufficiency, Portal hypertension, Ingu...	ORPHA:440713
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Hyperuricemia, Proteinuri...	ORPHA:261222
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Failure to t...	ORPHA:911
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,...	ORPHA:906
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Failure to thrive, Hyperaldosteronism, Hyponatremia, Renal salt wasting, Hyperkalemia	OMIM:264350
Waldenström Macroglobulinemia	Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Renal insufficiency, Splenomegaly, He...	ORPHA:33226
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Decreased circulating IgG level, Intrauterine growth retardation, Enamel hy...	ORPHA:2643
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie...	ORPHA:79233
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Failure to thrive, Postnatal growth retardation, Pancytopenia,...	ORPHA:2169
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote...	ORPHA:436271
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m...	ORPHA:90280
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD...	ORPHA:572
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Enuresis, Decreased body mass index, Decreased HDL cholesterol...	ORPHA:247585
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Abnormal circulating interleukin concentration, Increased circulating interf...	ORPHA:542323
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Elevated circulating creatinine concentration, Cryoglobulinemia, Hematuri...	OMIM:123550
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase c...	OMIM:251900
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis, Decreased circu...	OMIM:616829
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Nephrocalcinosis, Infection associated neutropenia, Renal insufficie...	ORPHA:445038
Retinitis Pigmentosa 59	Failure to thrive, Intrauterine growth retardation, Renal insufficiency, Hepatomegaly, Micropenis	OMIM:613861
Congenital Disorder Of Glycosylation, Type Iit	Urinary incontinence, Hypotriglyceridemia, Iron deficiency anemia, Decreased HDL cholesterol conc...	OMIM:618885
Primary Fanconi Renotubular Syndrome	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co...	ORPHA:3337
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Decreased circulating renin level, Hypokalemia, Hypercalciuria, Polyuria	OMIM:613677
Syndromic Recessive X-Linked Ichthyosis	Short stature, Unilateral renal agenesis, Acute leukemia, Renal insufficiency	ORPHA:281090
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur...	OMIM:620536
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent pneumonia, Atopic d...	OMIM:619752
Melas	Nephropathy, Focal segmental glomerulosclerosis, Proximal tubulopathy, Failure to thrive, Protein...	ORPHA:550
Eosinophilic Granulomatosis With Polyangiitis	Autoimmunity, Renal insufficiency, Skin rash, Hematuria, Proteinuria, Glomerulopathy, Eosinophili...	ORPHA:183
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula...	OMIM:194380
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Methylmalonic aciduria, Failure to thrive, Elevated circulating propionylcarnitin...	OMIM:614857
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia, Lymphopenia, Decreased circulating IgG level, Intestinal lymphangiectasia	OMIM:152800
Shigellosis	Pneumonia, Acute kidney injury, Uveitis, Conjunctivitis, Microangiopathic hemolytic anemia, Ulcer...	ORPHA:810
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Autoimmunity...	ORPHA:2902
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hemolytic anemia	OMIM:609153
Spondyloenchondrodysplasia	Chronic kidney disease, Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Anti-dsDNA...	ORPHA:1855
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde...	ORPHA:158684
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of...	ORPHA:1046
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Generalized lipodystrophy, Postnatal growth retardation, Prot...	OMIM:619127
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Short stature, Splenomegaly	ORPHA:417
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:603553
Wilson Disease	Hypouricemia, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Hepatomegaly, Jaundice, Decreased...	OMIM:277900
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Oculocerebrorenal Syndrome Of Lowe	Periodontitis, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Chronic otitis media...	ORPHA:534
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Weight loss, ...	ORPHA:54251
Imerslund-Grasbeck Syndrome 2	Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Megal...	OMIM:618882
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Growth delay, Splenomegaly, Short stature, Conjugated hyperbilirubinemia, Hepatom...	OMIM:608885
Xanthinuria, Type Ii	Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le...	OMIM:603592
Felty Syndrome	Cellulitis, Bone marrow hypocellularity, Recurrent pneumonia, Recurrent urinary tract infections,...	ORPHA:47612
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Hemophagocytosis, Failure...	OMIM:222700
Alkaptonuria	Elevated urinary homogentisic acid, Decreased glomerular filtration rate, Dark urine, Nephrolithi...	OMIM:203500
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Autoimmunity...	ORPHA:275
Tick-Borne Encephalitis	Myelitis, Leukopenia, Leukocytosis, Abnormal circulating cytokine concentration, Thrombocytopenia...	ORPHA:297
Propionic Acidemia	Hyperglycinuria, Increased level of hippuric acid in urine, Failure to thrive, Eczematoid dermati...	OMIM:606054
Mast Cell Sarcoma	Mastocytosis, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy	ORPHA:66661
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Chronic kidney disease, Failure to thrive, Intrauterine growth retardation, Renal tubular acidosi...	ORPHA:324525
Lessel-Kubisch Syndrome	Short stature, Renal hypoplasia, Renal insufficiency	OMIM:618681
Porphyria Cutanea Tarda	Portal inflammation, Systemic lupus erythematosus, Hepatic steatosis, Decreased circulating hepci...	ORPHA:101330
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Temple Syndrome	Recurrent otitis media, Obesity, Intrauterine growth retardation, Hypercholesterolemia, Truncal o...	OMIM:616222
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Bronchiectasis, Neutropenia	OMIM:193670
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote...	OMIM:220110
Smith-Magenis Syndrome	Abnormality of the urinary system, Increased body weight, Abnormal renal morphology, Hypercholest...	OMIM:182290
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Leukopenia, Elevated circulating creatine kinase concentration, Myoglobinur...	OMIM:255125
Agammaglobulinemia, X-Linked	Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ...	OMIM:300755
Pierson Syndrome	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,...	OMIM:609049
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:267700
Senior-Loken Syndrome 8	Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidney diseas...	OMIM:616307
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Intrauterine growth retardation, Macroc...	OMIM:620501
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th...	ORPHA:848
Glycogen Storage Disease Xi	Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Pseudo-Torch Syndrome 1	Failure to thrive, Umbilical hernia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepatom...	OMIM:251290
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency	ORPHA:1909
Smith-Magenis Syndrome	Failure to thrive in infancy, Abnormality of the ureter, Obesity, Renal hypoplasia/aplasia, Hyper...	ORPHA:819
Helix Syndrome	Hypermagnesemia, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Hypokalemia, Polyuria	OMIM:617671
Thrombocytopenia 1	Decreased mean platelet volume, Eczematoid dermatitis, Increased circulating IgE level, Increased...	OMIM:313900
Mgat2-Cdg	Decreased circulating IgG level, Decreased circulating antibody level, Impaired lymphocyte transf...	ORPHA:79329
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Hyperk...	OMIM:614736
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Muckle-Wells Syndrome	Nephropathy, Renal amyloidosis, Conjunctivitis, Camptodactyly of finger, Recurrent aphthous stoma...	ORPHA:575
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Elevated circulating palmitoleylcarnitine concentration, Ketonuria, Methylmalonic aciduria, Failu...	ORPHA:79282
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Lassa Fever	Conjunctivitis, Jaundice, Oliguria, Increased circulating IgM level	ORPHA:99824
Avian Influenza	Hypoalbuminemia, Pneumonia, Acute kidney injury, Myelitis, Hepatitis, Lymphopenia, Leukopenia, El...	ORPHA:454836
Shwachman-Diamond Syndrome 1	Nephrocalcinosis, Failure to thrive, Persistence of hemoglobin F, Exocrine pancreatic insufficien...	OMIM:260400
Porphyria Variegata	Chronic kidney disease, Abnormality of the liver, Increased urinary porphobilinogen, Abnormal cir...	ORPHA:79473
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Failure to thrive, Increased hepatic echogenicity, Microcytic anemia, Recur...	OMIM:619525
46,Xy Sex Reversal 4	Recurrent otitis media, Elevated circulating creatinine concentration, Ureteropelvic junction obs...	OMIM:154230
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Progressive Familial Intrahepatic Cholestasis	Abnormality of thrombocytes, Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Hepatome...	ORPHA:172
Aicardi-Goutieres Syndrome 6	Intrauterine growth retardation, Splenomegaly, Chilblains, Increased circulating Interferon-alpha...	OMIM:615010
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypocalciuria, Chondrocalcinosis, Multiple small medullary renal cysts, Renal in...	OMIM:600740
Mccune-Albright Syndrome	Renal phosphate wasting, Bone marrow hypocellularity, Hepatitis, Increased circulating cortisol l...	ORPHA:562
Immunodeficiency 46	Failure to thrive, Neutropenia, Chronic oral candidiasis, Anemia, Conjunctivitis, Decreased circu...	OMIM:616740
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Familial Hypoaldosteronism	Failure to thrive, Hyponatremia, Decreased urinary potassium, Proximal renal tubular acidosis, Re...	ORPHA:427
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Recurrent otitis media, Postnatal growth retardation, Obesity, Intrauterine growth retardation, H...	ORPHA:254531
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocut...	OMIM:618282
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag...	OMIM:301050
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Renal hypoplasia, Decreased circula...	OMIM:620005
Immunodeficiency 9	Decreased circulating IgG level, Failure to thrive, Lymphopenia, Decreased circulating IgA level,...	OMIM:612782
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Short stature	OMIM:193100
Granulomatous Slack Skin	Acute kidney injury, Hypercalcemia, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Hermansky-Pudlak Syndrome 8	Impaired platelet aggregation	OMIM:614077
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Reduced subcut...	OMIM:137940
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Failure to thrive, Extramedullary hematopoiesis, Cholestasis, Postnatal gro...	ORPHA:79303
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil...	OMIM:617638
Coproporphyria, Hereditary	Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Jaundice,...	OMIM:121300
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia	OMIM:615863
Bardet-Biedl Syndrome 19	Renal hypoplasia, Obesity, Renal insufficiency, Hepatic steatosis, Hydronephrosis	OMIM:615996
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Nephrolithiasis, Hypophosphatemia, Short stature, Abnormal adipose tissue morphology	ORPHA:93160
Laurence-Moon Syndrome	Obesity, Renal insufficiency, Congenital hepatic fibrosis, Displacement of the urethral meatus, S...	ORPHA:2377
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Failure to thrive, Intrauterine growth retardation, Renal insufficiency, Abnorm...	ORPHA:320
Familial Thrombocytosis	Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis	ORPHA:71493
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop...	ORPHA:381
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis	OMIM:266120
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia, Hypercalciuria	OMIM:612286
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Osteomyel...	ORPHA:171876
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Congenital diaphrag...	OMIM:166300
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Unilateral renal agenesis, Reduced natural killer cell count, Decreased lymphocyte proliferation ...	ORPHA:221139
Japanese Encephalitis	Elbow flexion contracture, Infectious encephalitis, Hyponatremia, Increased circulating antibody ...	ORPHA:79139
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Lymphadenitis, Failure to thrive, Eczemato...	OMIM:615895
Hyperimmunoglobulinemia D With Periodic Fever	Recurrent aphthous stomatitis, Peritonitis, Increased circulating IgA level, Lymphadenopathy, Art...	ORPHA:343
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Prolinuria, Hydroxyprolinuria, Hyperglycinemia...	ORPHA:79101
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal hypoplasia, Umbilical hernia, Pancytopenia, Renal insufficiency, Short stature, Hypoplasia ...	ORPHA:85321
Acquired Ichthyosis	Recurrent skin infections, Autoimmunity, Renal insufficiency	ORPHA:454
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Thrombocyto...	OMIM:598500
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein...	ORPHA:85445
Senior-Loken Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis	OMIM:606995
Liddle Syndrome	Hypokalemia, Nephropathy, Renal insufficiency	ORPHA:526
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Intrauteri...	ORPHA:2133
Bloom Syndrome	Abscess, Abnormal proportion of CD8-positive T cells, Acute myeloid leukemia, Acute lymphoblastic...	ORPHA:125
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t...	ORPHA:64743
Hereditary Xanthinuria	Hypouricemia, Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Recurrent urina...	ORPHA:3467
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis	OMIM:612287
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium, Anemia, Reduced c...	OMIM:611489
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice	OMIM:179700
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepat...	OMIM:614480
Hyperinsulinemic Hypoglycemia, Familial, 8	Hyperammonemia, Hypercholesterolemia, Short stature, Growth delay, Increased C-peptide level	OMIM:620211
Coach Syndrome 2	Hepatic fibrosis, Portal fibrosis, Hyperechogenic kidneys, Elevated circulating creatinine concen...	OMIM:619111
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level, Functional abnormality of the bladder, Small for gestational age	OMIM:300076
Senior-Loken Syndrome	Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease, Congenital hepatic fibr...	ORPHA:3156
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Portal hypertension, Abnormality of the lymphatic system, Biliary t...	ORPHA:1414
Congenital Nephrotic Syndrome, Finnish Type	Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Abnormal renal tubule...	ORPHA:839
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Decreas...	ORPHA:228308
Granulomatosis With Polyangiitis	Ureteral stenosis, Autoimmunity, Renal insufficiency, Otitis media, Skin rash, Hematuria, Protein...	ORPHA:900
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Nephronophthisis, Cholestasis, Obesity, Splenomegaly, H...	OMIM:615630
Snakebite Envenomation	Hyponatremia, Acute kidney injury, Thrombocytopenia	ORPHA:449285
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, D...	OMIM:605911
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Urinary r...	ORPHA:79124
Ogden Syndrome	Growth delay, Polycythemia, Eczematoid dermatitis, Umbilical hernia, Recurrent otitis media, Post...	OMIM:300855
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile...	ORPHA:731
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Sialidosis Type 2	Nephropathy, Umbilical hernia, Ascites, Inguinal hernia, Splenomegaly, Hepatomegaly, Flexion cont...	ORPHA:87876
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Lujo Hemorrhagic Fever	Oliguria, Lymphopenia, Leukopenia, Leukocytosis, Renal insufficiency, Skin rash, Maculopapular ex...	ORPHA:319213
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Erythema n...	OMIM:611762
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Renal hypoplasia, Failure to thrive, Multiple small medullary...	OMIM:118450
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop...	ORPHA:3226
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Xq28 (MECP2) duplication	Decreased circulating IgA level, Functional abnormality of the bladder, Failure to thrive	DECIPHER:45
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Failure to thrive, Lymphopenia...	OMIM:208900
Methylmalonic Aciduria, Cblb Type	Ketonuria, Methylmalonic aciduria, Failure to thrive, Elevated circulating propionylcarnitine con...	OMIM:251110
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Elevated circulating C-reactive protei...	OMIM:607115
Infantile Nephropathic Cystinosis	Aminoaciduria, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Hyperphosphaturia...	ORPHA:411629
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Failure to thrive, Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, ...	OMIM:264700
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Bone marrow hypocellularity, Ketonuria, Failure to thrive, Umbilical hernia, Large...	OMIM:614520
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,...	OMIM:619705
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochrom...	OMIM:616084
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas...	ORPHA:2364
Methylmalonic Aciduria, Cbla Type	Ketonuria, Methylmalonic aciduria, Failure to thrive, Pancytopenia, Hyperglycinemia, Hyperammonem...	OMIM:251100
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Hematuria, Proteinuria, Hepatom...	ORPHA:77261
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Elevated circulating ...	OMIM:277380
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level	OMIM:612126
Fabry Disease	Lipiduria, Renal insufficiency, Proteinuria, Left ventricular hypertrophy, Delayed puberty, Anemi...	OMIM:301500
Alg1-Cdg	Hypoalbuminemia, Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney	ORPHA:79327
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Nephrocalcinosis, Failure to thrive, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria, ...	OMIM:602722
Orthostatic Hypotension 1	Elevated circulating dihydroxyphenylacetic acid concentration, Nocturia, Increased blood urea nit...	OMIM:223360
Metaphyseal Chondrodysplasia, Jansen Type	Severe short stature, Nephrocalcinosis, Hyperphosphaturia, Hip contracture, Knee flexion contract...	OMIM:156400
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic...	ORPHA:79284
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Failure to thrive in infancy, Pancytopenia, Hypersplenism, Portal hypertension, Spleno...	OMIM:613385
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Increased circulating ferritin concen...	OMIM:613313
Familial Cold Autoinflammatory Syndrome 1	Renal amyloidosis, Leukocytosis, Skin rash, Arthritis, Elevated circulating C-reactive protein co...	OMIM:120100
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Cellulitis, Periodontitis, Recurrent otitis media, N...	OMIM:266265
Cogan Syndrome	Keratitis, Episcleritis, Leukocytosis, Scleritis, Inflammatory abnormality of the eye, Thrombocyt...	ORPHA:1467
Nail-Patella Syndrome	Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Short stature, Nephrotic syndrome	OMIM:161200
9Q31.1Q31.3 Microdeletion Syndrome	Short stature, Renovascular hypertension, Hypercholesterolemia, Overweight	ORPHA:401923
Papa Syndrome	Crohn's disease, Proteinuria, Increased inflammatory response, Increased circulating antibody lev...	ORPHA:69126
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Red-brown urine, Decreased plasma free carnitin...	ORPHA:157
Acute Generalized Exanthematous Pustulosis	Cholestasis, Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Leukocytosis, Pus...	ORPHA:293173
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen...	OMIM:616000
Insulin Autoimmune Syndrome	Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Weight loss, Ar...	ORPHA:411593
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Hypokalemia, Proximal renal tubular ...	OMIM:604278
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Mild postnatal gr...	OMIM:224120
Jeune Syndrome	Nephropathy, Nephronophthisis, Abnormality of the liver, Renal insufficiency, Short stature	ORPHA:474
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia	OMIM:273900
Congenital Disorder Of Glycosylation, Type Iiaa	Unilateral renal agenesis, Hepatic fibrosis, Nodular regenerative hyperplasia of liver, Biliary c...	OMIM:620454
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Pancreatic hypoplasia, Exocrine pancreat...	OMIM:137920
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Failure to thrive, Microcytic anemia, Short stature, Flexion contracture, Hypospa...	ORPHA:98791
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Thrombocytopenia	OMIM:616176
Actinic Prurigo	Pyoderma, Cheilitis, Glomerulonephritis	OMIM:174770
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Large for gestational age, Hypophosphatemic rickets, Pancreatic islet-cell hyperplasi...	ORPHA:263455
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Recurrent otitis media, Postnatal growth retardation, Obesity, Intrauterine growth retardation, H...	ORPHA:96184
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Increased circulating ferritin conce...	OMIM:615846
Linear Verrucous Nevus Syndrome	Hypophosphatemia, Abnormality of the kidney	ORPHA:2611
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia, Antiphospholipid antibody positivity, Atrophic scars	OMIM:182410
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas...	OMIM:620138
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri...	ORPHA:411536
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Splenomegaly, Lipodystrophy, He...	OMIM:608776
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:160010
Familial Glucocorticoid Deficiency	Hypernatriuria, Failure to thrive, Recurrent urinary tract infections, Hyponatremia, Decreased ci...	ORPHA:361
Alveolar Echinococcosis	Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertension, Hepatic...	ORPHA:284
Renal Tubular Acidosis, Proximal	Short stature, Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubu...	OMIM:179830
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Inc...	ORPHA:3202
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome...	OMIM:616860
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure...	OMIM:300539
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal f...	OMIM:251880
Acrorenal Syndrome	Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia	ORPHA:971
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Joint contracture of the hand, Keratitis, Eczematoid dermatitis, Increased circulating IgE level,...	OMIM:618523
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Cinca Syndrome	Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Hepatomegaly, Inflammatory abnormality o...	ORPHA:1451
Familial Mediterranean Fever	Renal amyloidosis, Erysipelas, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Crohn'...	OMIM:249100
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, ...	OMIM:618278
Acute Interstitial Pneumonia	Reduced hematocrit	ORPHA:79126
Joubert Syndrome 4	Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff...	OMIM:609583
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Hellp Syndrome	Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic anemia, Proteinuria, Increased ...	ORPHA:244242
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Cirrhosi...	OMIM:301068
Xfe Progeroid Syndrome	Hypoalbuminemia, Severe short stature, Failure to thrive, Ascites, Corneal scarring, Renal insuff...	OMIM:610965
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com...	OMIM:301081
Nephronophthisis 16	Periportal fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Renal insuffi...	OMIM:615382
Smith-Kingsmore Syndrome	Rhizomelia, Umbilical hernia, Decreased circulating IgA level, Large for gestational age, Thrombo...	OMIM:616638
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Autoimmunity, Splen...	OMIM:618398
Vici Syndrome	Cutaneous anergy, Decreased circulating IgG level, Failure to thrive, Chronic mucocutaneous candi...	OMIM:242840
Hereditary Fructose Intolerance	Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Hyperuricemia, Hypophosphatemia, He...	ORPHA:469
Lipodystrophy, Familial Partial, Type 7	Failure to thrive, Decreased adipose tissue around neck, Absence of subcutaneous fat, Reduced sub...	OMIM:606721
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency	ORPHA:254857
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, W...	OMIM:619381
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Failure to thrive, Renal i...	ORPHA:223
Ethylene Glycol Poisoning	Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Hematuria, Gastritis, Decreased uri...	ORPHA:31826
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ...	OMIM:615122
3-Methylglutaconic Aciduria, Type V	3-Methylglutaric aciduria, Failure to thrive, Normochromic microcytic anemia, Postnatal growth re...	OMIM:610198
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Weight loss, Lymphadenopathy, Neutropenia, Thr...	ORPHA:520
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, R...	ORPHA:90791
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Predominantly dermal...	ORPHA:284426
Liver Failure, Infantile, Transient	Hypoalbuminemia, Decreased circulating IgG level, Dicarboxylic aciduria, Hyperbilirubinemia, 3-hy...	OMIM:613070
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Recurrent pneumonia, Rhizomelia, Failure to thrive, Decreased ci...	OMIM:607143
Hereditary Orotic Aciduria	Aminoaciduria, Impaired T cell function, Oroticaciduria, Abnormality of the ureter, Splenomegaly,...	ORPHA:30
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Erysipelas, Ascites, Leukocytosis, Splenomegaly, Skin rash, Orchit...	ORPHA:342
Glycogen Storage Disease V	Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration	OMIM:232600
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Anemia, Congenital Dyserythropoietic, Type Ib	Growth delay, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis,...	OMIM:615631
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:35078
Acquired Aneurysmal Subarachnoid Hemorrhage	Left ventricular hypertrophy, Leukocytosis, Hypercholesterolemia	ORPHA:90065
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia	ORPHA:3222
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Intrauterine growt...	OMIM:266200
Amelogenesis Imperfecta, Type Ig	Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Amelogenesis imperfe...	OMIM:204690
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Elevated...	ORPHA:368
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Intestinal lymphangiectasia	OMIM:207731
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Cellulitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased p...	OMIM:614878
Parathyroid Carcinoma	Nephrocalcinosis, Chondrocalcinosis, Renal hamartoma, Pancreatic adenocarcinoma, Renal insufficie...	ORPHA:143
Teratoma, Pineal	Abnormal abdomen morphology, Polyuria	OMIM:273120
Fructose Intolerance, Hereditary	Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Failure to thrive, Hyperbilirubinemia,...	OMIM:229600
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Chronic active hepatitis, Obesity, Renal insufficiency, Hypertrig...	OMIM:203800
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Growth delay, Failure to thrive, D...	OMIM:605814
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Aggressive Systemic Mastocytosis	Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of C...	ORPHA:98850
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal cyst, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:611773
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Renal insufficiency, Gout, Hyperuricemia, Hyperuricosuria, Arthritis, Uric a...	ORPHA:411543
Congenital Generalized Lipodystrophy	Failure to thrive, Hepatic steatosis, Adipose tissue loss, Cirrhosis, Hypercholesterolemia, Lipod...	ORPHA:528
Scrub Typhus	Renal insufficiency, Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopathy, Myocardit...	ORPHA:83317
Cocaine Intoxication	Acute kidney injury, Elevated circulating creatine kinase concentration, Hematuria, Proteinuria, ...	ORPHA:90068
Glucose-Galactose Malabsorption	Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss, Hypercalcemia, H...	ORPHA:35710
Nephronophthisis 7	Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis	OMIM:611498
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Growth delay, Hypocalcemia	OMIM:619073
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Large for gestational age, Obesity, Penile freckling, Spleno...	OMIM:605309
Congenital Analbuminemia	Hypoalbuminemia, Obesity, Hyperlipidemia, Increased circulating antibody level, Lipodystrophy, Hy...	ORPHA:86816
Igg4-Related Ophthalmic Disease	Keratitis, Increased circulating IgE level, Increased circulating IgG4 level, Orchitis, Antinucle...	ORPHA:449563
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn...	OMIM:616217
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hepatomegaly, H...	OMIM:615234
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop...	ORPHA:217390
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Immunodeficiency 7	Failure to thrive, Recurrent otitis media, Hypereosinophilia, Autoimmunity, Splenomegaly, Autoimm...	OMIM:615387
Fabry Disease	Nephropathy, Abnormal circulating lipid concentration, Hyperlipidemia, Renal insufficiency, Hemat...	ORPHA:324
Cold Agglutinin Disease	Abnormal urinary color, Autoimmunity, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Oculoskeletodental Syndrome	Renal agenesis, Elbow flexion contracture, Splenomegaly, Hypocalcemia, Mucopolysacchariduria, Hyp...	OMIM:618440
Acquired Generalized Lipodystrophy	Abnormality of complement system, Abnormal circulating lipid concentration, Generalized lipodystr...	ORPHA:79086
Bloom Syndrome	Decreased circulating IgG level, Bronchiectasis, Postnatal growth retardation, Decreased circulat...	OMIM:210900
Immunodeficiency 87 And Autoimmunity	Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Hepatomegaly, Elevated circ...	OMIM:619573
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Joint contracture of the hand, Keloids,...	OMIM:309000
Proteinuria, Chronic Benign	Proteinuria, Albuminuria, Renal insufficiency	OMIM:618884
Omenn Syndrome	Pneumonia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepat...	OMIM:603554
Ddost-Cdg	Failure to thrive, Hepatic steatosis, Lipodystrophy, Nephrotic range proteinuria, Short stature	ORPHA:300536
Mandibuloacral Dysplasia	Increased circulating free fatty acid level, Increased subcutaneous truncal adipose tissue, Contr...	ORPHA:2457
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Renal insufficiency, Proteinuria, Glomerulopathy, Elliptocytosis, Microscopic hematuria	ORPHA:86818
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Splenomegaly	ORPHA:75563
Immunodeficiency 61	Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased...	OMIM:300310
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Lipodystrophy, Congenital Generalized, Type 4	Recurrent pneumonia, Failure to thrive, Decreased circulating IgA level, Hepatic steatosis, Splen...	OMIM:613327
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc...	ORPHA:64753
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por...	OMIM:616278
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Dominant Beta-Thalassemia	Hepatic fibrosis, Growth delay, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence o...	ORPHA:231226
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Hepatomegaly, 3-Methylglutar...	OMIM:557000
Eosinophilic Gastroenteritis	Hypoalbuminemia, Allergic rhinitis, Atopic dermatitis, Ascites, Leukocytosis, Eosinophilia, Weigh...	ORPHA:2070
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG1 level, Reduced circulating transferrin concentration,...	ORPHA:90363
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Recurrent urinary tract infections,...	ORPHA:2970
X-Linked Immunoneurologic Disorder	Functional abnormality of the bladder, Decreased circulating IgG2 level	ORPHA:2571
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia, Failure to thrive	OMIM:143860
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hyperammonemia, Splenomegaly	ORPHA:664
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Pyomyositis	Leukocytosis, Renal insufficiency, Myositis, Weight loss, Recurrent cutaneous abscess formation	ORPHA:764
Stevens-Johnson Syndrome	Abnormality of the urethra, Renal insufficiency, Weight loss, Pancreatitis, Thrombocytopenia, Ane...	ORPHA:36426
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, E...	OMIM:620532
Dubowitz Syndrome	Decreased circulating IgG level, Aplastic anemia, Eczematoid dermatitis, Hypocholesterolemia, Dec...	OMIM:223370
Familial Partial Lipodystrophy, Dunnigan Type	Cellulitis, Abnormality of complement system, Splenomegaly, Hepatic steatosis, Glomerulopathy, Li...	ORPHA:2348
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega...	OMIM:612301
Alagille Syndrome 2	Cholestatic liver disease, Renal hypoplasia, Cholestasis, Renal insufficiency, Renal tubular acid...	OMIM:610205
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Chondrocalcinosis, Hypomagnesiuria, Autoi...	ORPHA:405
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Failu...	ORPHA:71212
Toxic Epidermal Necrolysis	Abnormality of the urethra, Renal insufficiency, Weight loss, Pancreatitis, Thrombocytopenia, Neu...	ORPHA:537
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Failure to ...	ORPHA:168558
Livedoid Vasculopathy	Abnormality of complement system, Polycythemia, Abnormal circulating lipid concentration, Systemi...	ORPHA:542643
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep...	ORPHA:1163
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Antinuclear antibody positivity, Lymphade...	OMIM:618852
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Failure to ...	ORPHA:289548
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia	OMIM:620484
Morgagni-Stewart-Morel Syndrome	Obesity, Hyperuricemia, Hypercholesterolemia, Osteoarthritis, Acne	ORPHA:77296
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Urinary retention, Hypomagnesemia, Obesity, Decreased urinary potassium, We...	ORPHA:79102
Maternal Uniparental Disomy Of Chromosome 4	Hypocholesterolemia, Postnatal growth retardation, Abnormal erythrocyte morphology, Acanthocytosi...	ORPHA:96180
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Chondrocalcinosis, Renal hamartoma, Pancreatic adenocarcinoma, Renal insufficie...	ORPHA:99880
Aredyld Syndrome	Abnormal dental enamel morphology, Abnormality of the ureter, Intrauterine growth retardation, Sp...	ORPHA:1133
Paroxysmal Cold Hemoglobinuria	Hemoglobinuria, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Abnormal urinary c...	ORPHA:90035
Familial Mediterranean Fever, Autosomal Dominant	Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis	OMIM:134610
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased s...	OMIM:619046
Pseudohypoaldosteronism Type 2	Abnormal dental enamel morphology, Hyperkalemia, Growth delay, Short stature	ORPHA:757
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Failure to thrive, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Beta-Thalassemia Major	Hepatic fibrosis, Growth delay, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence o...	ORPHA:231214
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegaly, Hypocalce...	OMIM:617913
Sarcoidosis	Abnormal lymph node morphology, Weight loss, Erythema nodosum, Hepatomegaly, Tubulointerstitial n...	ORPHA:797
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Cachexia, Camptodactyly of finger	ORPHA:2774
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:508533
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat...	ORPHA:79477
Renal Nutcracker Syndrome	Renal artery stenosis, Hematuria, Proteinuria, Weight loss, Anemia, Microscopic hematuria	ORPHA:71273
Martin-Probst Syndrome	Umbilical hernia, Pancytopenia, Renal insufficiency, Proteinuria, Chordee, Micropenis, Short stature	OMIM:300519
Renal-Hepatic-Pancreatic Dysplasia 1	Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Bile duct proliferation, Renal...	OMIM:208540
Cholestasis-Lymphedema Syndrome	Erysipelas, Hyperlipidemia, Splenomegaly, Neonatal cholestatic liver disease, Cirrhosis, Hepatome...	OMIM:214900
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces...	ORPHA:2686
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Immunodeficiency 54	Reduced natural killer cell count, Failure to thrive, Postnatal growth retardation, Intrauterine ...	OMIM:609981
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Increased circulating IgE level, Abnormality of the ureter, Obesity, Sho...	ORPHA:3409
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Failure to thrive, Low-molecular-wei...	ORPHA:47159
Caroli Syndrome	Intrahepatic cholestasis, Hypersplenism, Leukopenia, Leukocytosis, Hyperbilirubinemia, Congenital...	ORPHA:480520
Urachal Cyst	Leukocytosis, Abscess, Hematuria, Abdominal mass, Peritonitis, Urachus fistula, Elevated circulat...	ORPHA:488
Congenital Erythropoietic Porphyria	Reduced haptoglobin level, Scleritis, Keratoconjunctivitis, Increased connective tissue, Poikiloc...	ORPHA:79277
Hypomagnesemia 2, Renal	Hypocalciuria, Chondrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, H...	OMIM:154020
Cornelia De Lange Syndrome 1	Pneumonia, Renal hypoplasia, Elbow flexion contracture, Intrauterine growth retardation, Reduced ...	OMIM:122470
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Hepatic fibrosis, Renal insufficiency, Proteinuria, Renal cyst...	OMIM:208500
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps...	ORPHA:183675
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Failure to thrive, Cholestasis, Hyperammonemia,...	OMIM:609015
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Rhizomelia, Short stature	OMIM:617661
Zttk Syndrome	Unilateral renal agenesis, Failure to thrive, Horseshoe kidney, Intrauterine growth retardation, ...	OMIM:617140
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Decreased plasma free carnitin...	ORPHA:228305
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit...	OMIM:235700
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ...	OMIM:143400
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Digeorge Syndrome	Recurrent otitis media, Hepatic steatosis, Renal dysplasia, Cholelithiasis, Impaired T cell funct...	OMIM:188400
Congenital Enterovirus Infection	Hypoalbuminemia, Fetal ascites, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrop...	ORPHA:292
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hepato...	OMIM:201475
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure...	ORPHA:89938
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E...	ORPHA:84085
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Bone marrow hypocellularity, Renal agenesis, Horseshoe kidney, Panc...	OMIM:227645
Leiomyomatosis, Diffuse, With Alport Syndrome	Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Fa...	OMIM:308940
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia, Hepatomegaly, Short stature	OMIM:231000
Riddle Syndrome	Enuresis nocturna, Decreased circulating IgG level, Pneumonia, Recurrent pneumonia, Decreased cir...	ORPHA:420741
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Failure to thriv...	OMIM:617052
Hyperkalemic Periodic Paralysis	Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Flexion contractur...	ORPHA:682
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia, Hashimoto thyroiditis	ORPHA:83601
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Failure to thrive, Eczematoid dermatitis, Inc...	OMIM:256500
Wild Type Attr Amyloidosis	Nephropathy, Renal insufficiency, Proteinuria, Weight loss, Hepatomegaly, Nephrotic syndrome	ORPHA:330001
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Immunoglobulin A Deficiency 1	Decreased circulating IgA level, Autoimmunity	OMIM:137100
Fetal Cytomegalovirus Syndrome	Hepatitis, Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia,...	ORPHA:294
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Intrauterine...	OMIM:620040
Cholera	Acute kidney injury, Aspiration pneumonia, Hypocalcemia, Hypokalemia, Hyponatremia, Decreased uri...	ORPHA:173
Hyperuricemia, Hprt-Related	Renal insufficiency, Podagra, Hyperuricemia, Nephrolithiasis, Hyperuricosuria	OMIM:300323
Hemochromatosis, Type 3	Anemia, Lymphopenia, Neutropenia	OMIM:604250
Sweet Syndrome	Abnormal circulating interleukin concentration, Inflammation of the large intestine, Increased ci...	ORPHA:3243
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s...	ORPHA:79500
Hypophosphatemic Rickets And Hyperparathyroidism	Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Short stature, Hypercalcemia	OMIM:612089
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia	OMIM:301080
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Bone marrow hypo...	OMIM:619767
Erdheim-Chester Disease	Osteomyelitis, Xanthelasma, Renal insufficiency, Skin rash, Hydronephrosis, Weight loss, Anemia, ...	ORPHA:35687
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:159
Dysbetalipoproteinemia	Increased LDL cholesterol concentration, Obesity, Xanthelasma, Hypertriglyceridemia, Hepatic stea...	ORPHA:412
Coach Syndrome 1	Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Multi...	OMIM:216360
Oncogenic Osteomalacia	Renal phosphate wasting, Hypophosphatemia, Hypocalcemia, Hyperphosphaturia	ORPHA:352540
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Hyperphosphaturia, Too...	ORPHA:289176
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Abnormal renal morp...	OMIM:227650
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Mixed Connective Tissue Disease	Nephropathy, Mediastinal lymphadenopathy, Leukopenia, Autoimmunity, Splenomegaly, Skin rash, Myos...	ORPHA:809
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Congenital hepatic ...	ORPHA:1454
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Obesity, Cholecystitis, Sclerosing c...	ORPHA:69663
Argininemia	Portal fibrosis, Micronodular cirrhosis, Oroticaciduria, Cholestasis, Postnatal growth retardatio...	OMIM:207800
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Anemia, Reticulocyt...	OMIM:600901
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Megabladder, Congenital	Fetal megacystis, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogenic kidneys	OMIM:618719
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra...	OMIM:241150
Cockayne Syndrome	Postnatal growth retardation, Reduced subcutaneous adipose tissue, Cachexia, Hepatomegaly, Urinar...	ORPHA:191
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypophosphatemia, Growth delay, Hypocalcemia, Failure to thrive	OMIM:600081
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Recurrent urin...	OMIM:248190
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Portal hypertension, Sclerosing cholang...	OMIM:619662
Microscopic Polyangiitis	Uveitis, Oliguria, Autoimmunity, Renal insufficiency, Episcleritis, Skin rash, Hematuria, Increas...	ORPHA:727
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Failure to thrive, Pancytopenia, ...	OMIM:613989
Hereditary Methemoglobinemia	Methemoglobinemia, Small for gestational age	ORPHA:621
Refsum Disease	Renal insufficiency, Splenomegaly	ORPHA:773
Maternal Uniparental Disomy Of Chromosome 2	Elevated amniotic fluid alpha-fetoprotein, Contractures of the large joints, Postnatal growth ret...	ORPHA:96179
Leukocyte Adhesion Deficiency Type Ii	Recurrent pneumonia, Keratitis, Failure to thrive, Recurrent urinary tract infections, Microcytic...	ORPHA:99843
Netherton Syndrome	Aminoaciduria, Eczematoid dermatitis, Increased circulating IgE level, Skin rash, Hydronephrosis,...	ORPHA:634
Pneumocystosis	Interstitial pneumonitis, Increased circulating antibody level, Weight loss, Acute infectious pne...	ORPHA:723
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Short stature, Renal insufficiency, Hypocalcemia	ORPHA:1563
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Postnatal growth ...	OMIM:617093
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Proteinuria, Short stature, Tubulointerstitial nephritis	OMIM:616901
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ascites, Pancreatic lymphangiectasis, Hepatosplenomegaly, Postnatal growth retardation, Splenomeg...	ORPHA:1655
Cryptogenic Organizing Pneumonia	Elevated circulating C-reactive protein concentration, Weight loss, Leukocytosis, Neutrophilia	ORPHA:1302
Glycogen Storage Disease Ixb	Growth delay, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Shor...	OMIM:261750
Phosphoribosylpyrophosphate Synthetase Superactivity	Urolithiasis, Renal insufficiency, Gout, Hyperuricemia, Hyperuricosuria, Short stature, Uric acid...	OMIM:300661
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Nephrocalcinosis, Abnormality of the urinary system, Obesity, Decreased circulating IgA level, Re...	ORPHA:369837
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Distal Limb Deficiencies-Micrognathia Syndrome	Proteinuria, Renal hypoplasia, Renal insufficiency, Short stature	ORPHA:1307
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Decreased circulating apolipoprote...	OMIM:207750
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Postnatal growth retardation, Abnorm...	ORPHA:288
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Abnormality of the liver, Malar rash, Splenomegaly, Skin rash, Hep...	ORPHA:398124
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Systemic lupus erythematosus, Autoimmunity, Splenomegaly, Autoimmune hemo...	ORPHA:90033
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Growth delay, Intrauterine growth retardation, Reduced renal corticomedullary differentiation, Sp...	OMIM:618541
Prader-Willi Syndrome	Class III obesity, Decreased HDL cholesterol concentration, Failure to thrive in infancy, Obesity...	OMIM:176270
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dilatation of the renal pelvis, Cholestasis, Hyperbilirubinemia, Dark urine, Congenital hepatic f...	OMIM:619534
Becker Muscular Dystrophy	Myoglobinuria, Abnormal urinary color, Elevated circulating creatine kinase concentration	ORPHA:98895
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of...	OMIM:242700
Fumarase Deficiency	Aminoaciduria, Elevated urine fumaric acid level, Intrahepatic cholestasis, Polycythemia, Failure...	OMIM:606812
Niemann-Pick Disease, Type A	Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly...	OMIM:257200
Mogs-Cdg	Decreased circulating IgG level, Hepatosplenomegaly, Decreased circulating IgA level, Cardiomegal...	ORPHA:79330
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Skin rash, Lymphadenopathy,...	ORPHA:98848
East Syndrome	Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Hyperaldoste...	ORPHA:199343
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Nephronophthisis 18	Thickened glomerular basement membrane, Nephronophthisis, Portal fibrosis, Cholestasis, Stage 5 c...	OMIM:615862
Trichothiodystrophy 6, Nonphotosensitive	Mild intrauterine growth retardation, Increased HbA2 hemoglobin, Decreased mean corpuscular volum...	OMIM:616943
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis	ORPHA:163596
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Donnai-Barrow Syndrome	Proteinuria, Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia	ORPHA:2143
Hennekam Syndrome	Erysipelas, Camptodactyly of finger, Horseshoe kidney, Lymphopenia, Ascites, Decreased circulatin...	ORPHA:2136
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Abnormal hemoglobin, Infectious encephalitis, Hydronephrosis,...	ORPHA:847
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Wolman Disease	Ascites, Splenomegaly, Hepatomegaly, Cachexia, Anemia, Bone-marrow foam cells, Growth delay, Stea...	ORPHA:75233
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia	ORPHA:1930
Adult-Onset Nemaline Myopathy	Paraproteinemia, Flexion contracture, Mildly elevated creatine kinase	ORPHA:171442
Denys-Drash Syndrome	Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma	ORPHA:220
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Neutropenia	OMIM:620443
Lipodystrophy, Familial Partial, Type 2	Increased adipose tissue around the neck, Increased facial adipose tissue, Increased intramuscula...	OMIM:151660
Mandibuloacral Dysplasia With Type A Lipodystrophy	Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexion contract...	OMIM:248370
Vitamin D-Dependent Rickets, Type 2A	Failure to thrive, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures, Growth delay	OMIM:277440
Meningococcal Meningitis	Elevated circulating C-reactive protein concentration, Renal insufficiency, Skin rash, Infectious...	ORPHA:33475
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Abnormality of endocrine pancr...	ORPHA:93111
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circulating inter...	ORPHA:391487
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Hepatic steatosis, Renal cyst, Hep...	OMIM:614922
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine	OMIM:612736
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620125
Severe Oculo-Renal-Cerebellar Syndrome	Proteinuria, Glomerulopathy, Renal insufficiency, Short stature	ORPHA:2715
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria, Highly elevated creatine kinase	ORPHA:352479
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Psoriasiform dermatitis, Renal insufficiency, Hypocalcemia, Vesicouret...	ORPHA:2237
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Osteopetrosis, Autosomal Recessive 5	Growth delay, Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocytos...	OMIM:259720
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly, Intraalveolar phospholipid accu...	OMIM:618042
X-Linked Hypophosphatemia	Renal phosphate wasting, Cellulitis, Hypocalciuria, Disproportionate short stature, Hypophosphate...	ORPHA:89936
Porphyria, Congenital Erythropoietic	Cholelithiasis, Joint contracture of the hand, Atypical scarring of skin, Conjunctivitis, Elevate...	OMIM:263700
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Cystinuria	Hematuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis	ORPHA:214
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia, Anemia	OMIM:175500
Cockayne Syndrome B	Severe short stature, Atypical scarring of skin, Failure to thrive, Postnatal growth retardation,...	OMIM:133540
Dyschondrosteosis-Nephritis Syndrome	Nephropathy, Intrauterine growth retardation, Mesomelic short stature, Proteinuria, Hematuria, Sh...	ORPHA:1765
Bardet-Biedl Syndrome 9	Obesity, Renal insufficiency, Truncal obesity	OMIM:615986
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia, Erythroderma, Short stature	OMIM:270300
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	ORPHA:2704
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal...	ORPHA:1475
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:300559
Mitochondrial Trifunctional Protein Deficiency 2	Hyperammonemia, Elevated circulating creatine kinase concentration, Myoglobinuria, Increased circ...	OMIM:620300
Liver Disease, Severe Congenital	Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepa...	OMIM:619991
Medullary cystic kidney disease 2	Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Hyperuricem...	OMIM:603860
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Failure to thrive, Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicouret...	OMIM:191800
Opsismodysplasia	Renal phosphate wasting, Rhizomelia, Hypophosphatemia, Disproportionate short-limb short stature	OMIM:258480
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Autoimmune hemo...	ORPHA:100026
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, Hyperbilirubinemia, Mild proteinuria, Increased serum bile acid concent...	OMIM:619685
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Keratitis, Failure to thrive, Aspiration pneumonia, Stage 5 ...	ORPHA:1018
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Ebola Hemorrhagic Fever	Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Macul...	ORPHA:319218
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Ascites, Pancreatic lymphangiectasis, Splenomegaly, Hypocalcemia, Inguinal hernia, Hydronephrosis...	OMIM:235255
Cockayne Syndrome A	Atypical scarring of skin, Failure to thrive, Intrauterine growth retardation, Renal insufficienc...	OMIM:216400
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Rasmussen Subacute Encephalitis	Anti-dsDNA antibody positivity, Autoimmunity, Antinuclear antibody positivity, Decreased circulat...	ORPHA:1929
Osteopetrosis, Autosomal Recessive 1	Failure to thrive, Osteomyelitis, Pancytopenia, Splenomegaly, Hypocalcemia, Hepatomegaly, Thrombo...	OMIM:259700
Igg4-Related Thyroid Disease	Anti-thyroglobulin antibody positivity, Increased circulating IgG4 level, Autoimmunity, Hypocalce...	ORPHA:64744
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Raine Syndrome	Hydroureter, Hydronephrosis, Hypophosphatemia, Enamel hypoplasia, Short stature, Arthrogryposis m...	OMIM:259775
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration, Renal insufficiency, Renal cyst	OMIM:617478
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemia, Hypophosphatemic rickets	OMIM:241520
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, Intrauterine g...	OMIM:610199
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level, Renal tubular acidosis, Ureter...	ORPHA:1493
Rhyns Syndrome	Chronic kidney disease, Nephronophthisis, Renal insufficiency, Short stature	OMIM:602152
Acute Intermittent Porphyria	Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Hyponatrem...	ORPHA:79276
Liddle Syndrome 1	Hypokalemia, Renal insufficiency, Decreased circulating renin level	OMIM:177200
Bardet-Biedl Syndrome 20	Obesity, Proteinuria, Pancreatitis, Hypercholesterolemia, Micropenis	OMIM:619471
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Hepatomeg...	OMIM:612852
Hermansky-Pudlak Syndrome	Abnormality of thrombocytes, Abnormal dental enamel morphology, Renal insufficiency, Weight loss,...	ORPHA:79430
Arteriosclerosis, Severe Juvenile	Anemia, Chronic kidney disease, Delayed puberty, Short stature	OMIM:208060
Galloway-Mowat Syndrome	Nephropathy, Camptodactyly of finger, Intrauterine growth retardation, Hiatus hernia, Proteinuria...	ORPHA:2065
Isolated Biliary Atresia	Periportal fibrosis, Failure to thrive, Cholestasis, Atretic gallbladder, Xanthelasma, Splenomega...	ORPHA:30391
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Growth delay, Renal agenesis, HbH hemoglobin, Umbilical hernia, Postnatal growth retardation, Hyd...	OMIM:301040
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity, Rhizomelia, Stage 1 chronic kidney disease	OMIM:618821
Cranioectodermal Dysplasia 2	Recurrent pneumonia, Portal fibrosis, Biliary cirrhosis, Rhizomelia, Polysplenia, Cholestasis, Hy...	OMIM:613610
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrhosis, Shor...	OMIM:601847
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic ane...	OMIM:612561
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,...	OMIM:600802
Renal Tubular Acidosis Iii	Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Agel Amyloidosis	Proteinuria, Stage 5 chronic kidney disease, Abnormal spleen morphology, Keratoconjunctivitis sicca	ORPHA:85448
Wilson Disease	Failure to thrive, Hepatitis, Acute hepatitis, Splenomegaly, Hepatic steatosis, Increased body we...	ORPHA:905
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Inflammatory Pseudotumor Of The Liver	Biliary tract abnormality, Increased hepatitis B virus antibody level, Neoplasm of the liver, Cir...	ORPHA:90003
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hypocalcemia, Otitis media, Chronic rhinitis, Hepatomegaly, Hypophosphatemia, Lymph...	ORPHA:667
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Intrauterine growth retardation, Leukocytosis, Hepatic steatosis, Short stature...	OMIM:619321
Zygomycosis	Cellulitis, Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Renal insufficiency, ...	ORPHA:73263
Poikiloderma With Neutropenia	Recurrent pneumonia, Recurrent otitis media, Leukopenia, Splenomegaly, Recurrent sinusitis, Eleva...	OMIM:604173
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Large for gestational age, Hypospadias, Decreased circulating IgA level	ORPHA:457485
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Erythroderma, Lympha...	ORPHA:3162
Immunodeficiency 17	Abnormal B cell morphology, Failure to thrive, Eczematoid dermatitis, Decreased proportion of CD8...	OMIM:615607
Senior-Loken Syndrome 9	Hepatic fibrosis, Nephronophthisis, Cholestasis, Obesity, Stage 5 chronic kidney disease, Tubuloi...	OMIM:616629
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:119
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Ankle flexion contracture, Elbow flexion contracture, Hamstring contractures, Elevated circulatin...	ORPHA:206549
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of ...	OMIM:612714
Fanconi Anemia	Abnormality of the urinary system, Hydroureter, Growth delay, Recurrent urinary tract infections,...	ORPHA:84
Psoriasis 14, Pustular	Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Neutrophilia, Elevated circulatin...	OMIM:614204
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Atrophic scars, Increased circulating ...	ORPHA:48104
Kleefstra Syndrome Due To 9Q34 Microdeletion	Failure to thrive, Obesity, Vesicoureteral reflux, Renal insufficiency, Inguinal hernia, Femoral ...	ORPHA:96147
Hyperoxaluria, Primary, Type Ii	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis	OMIM:260000
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171420
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Failure to thrive, Pancreatic hypoplasia, Eczematoid dermatitis, Postnatal growth...	ORPHA:83617
Congenital Disorder Of Glycosylation, Type Iie	Growth delay, Failure to thrive, Intrauterine growth retardation, Splenomegaly, Elevated circulat...	OMIM:608779
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Failure to thrive, Intrahepatic biliary dysgenesis, Hydronephrosis, Prolonged neon...	OMIM:214100
Nail-Patella Syndrome	Thickened glomerular basement membrane, Nephritis, Elbow flexion contracture, Contracture of the ...	ORPHA:2614
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy...	ORPHA:158029
Transaldolase Deficiency	Hepatic fibrosis, Failure to thrive, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, In...	OMIM:606003
Degcags Syndrome	Chronic kidney disease, Cholestasis, Hepatosplenomegaly, Pancytopenia, Hyperbilirubinemia, Abnorm...	OMIM:619488
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena...	OMIM:146255
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Staphylococcal Necrotizing Pneumonia	Pneumonia, Leukopenia, Leukocytosis, Acute infectious pneumonia, Neutrophilia, Elevated circulati...	ORPHA:36238
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Hyperlipidemia, Familial Combined, 3	Increased LDL cholesterol concentration, Xanthelasma, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatic fibrosis, Acute kidney injury, Nephronophthisis, Rhizomelia, Failure to thrive, Umbilical...	OMIM:266920
Hypermanganesemia With Dystonia 1	Polycythemia, Increased total iron binding capacity, Cirrhosis, Hypermanganesemia, Hepatomegaly, ...	OMIM:613280
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Anti-thyroglobulin antibody positivity, Rec...	OMIM:615577
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Failure to thrive, Hypocholesterolemia, Splenomeg...	OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Short stature, Intrahepatic cholestas...	OMIM:211600
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly	OMIM:616589
Noonan Syndrome	Abnormality of the spleen, Abnormal platelet function, Juvenile myelomonocytic leukemia	ORPHA:648
Mucopolysaccharidosis, Type Ii	Severe short stature, Recurrent pneumonia, Umbilical hernia, Recurrent otitis media, Heparan sulf...	OMIM:309900
Methemoglobinemia And Ambiguous Genitalia	Micropenis, Methemoglobinemia, Hypospadias, Scrotal hypospadias	OMIM:250790
Primary Hyperoxaluria Type 2	Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ...	ORPHA:93599
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Long penis, Hypernatriuria, Failure to thrive, Hyponatremia, Decreased circulating cortisol level...	ORPHA:90794
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Familial Dysautonomia	Renal insufficiency, Hyponatremia, Glomerulopathy, Abnormal peritoneum morphology, Abnormality of...	ORPHA:1764
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegal...	OMIM:214500
Kleefstra Syndrome	Obesity, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cyst, Hernia, Short st...	ORPHA:261494
Common Variable Immunodeficiency	Pneumonia, Bronchiectasis, Failure to thrive in infancy, Lymphopenia, Abnormality of the liver, D...	ORPHA:1572
Listeriosis	Arteritis, Abscess, Pustule, Jaundice, Endocarditis, Acute kidney injury, Osteomyelitis, Peritoni...	ORPHA:533
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Short stature, Bronchiectasis	OMIM:615139
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Failure to thrive, Umbilical hernia, Abnormal circulating thyroglobu...	ORPHA:90674
Alström Syndrome	Chronic kidney disease, Hepatosplenomegaly, Hepatic steatosis, Cirrhosis, Glomerulonephritis, Uri...	ORPHA:64
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity...	ORPHA:209902
Necrotizing Enterocolitis	Ascites, Leukocytosis, Hyponatremia, Peritonitis, Thrombocytopenia, Neutropenia, Small for gestat...	ORPHA:391673
Adrenocortical Carcinoma	Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Hypok...	ORPHA:1501
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia, Growth delay	OMIM:611490
Lymphedema-Hypoparathyroidism Syndrome	Nephropathy, Renal insufficiency, Short stature, Pulmonary lymphangiectasia	OMIM:247410
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Failure to thrive, Cholestasis, Elevated circulating phytanic acid concentration, He...	OMIM:614866
Systemic-Onset Juvenile Idiopathic Arthritis	Autoimmunity, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Elevated circula...	ORPHA:85414
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Anterior Cutaneous Nerve Entrapment Syndrome	Decreased body weight, Leukocytosis, Inguinal hernia, Recurrent urinary tract infections	ORPHA:51890
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Stage 5 chronic...	OMIM:267010
Mandibuloacral Dysplasia With Type B Lipodystrophy	Generalized lipodystrophy, Stage 5 chronic kidney disease, Hyperlipidemia, Decreased adipose tiss...	OMIM:608612
Hurler-Scheie Syndrome	Growth delay, Camptodactyly of finger, Umbilical hernia, Heparan sulfate excretion in urine, Cont...	OMIM:607015
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephropathy, Obesity, Renal insufficiency, Nephroblastoma, Hypospadias	OMIM:194072
Kikuchi-Fujimoto Disease	Myocarditis, Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Malar rash, Sp...	ORPHA:50918
Mucopolysaccharidosis Type 6	Failure to thrive, Splenomegaly, Hernia, Mucopolysacchariduria, Disproportionate short-trunk shor...	ORPHA:583
Variant Abeta2M Amyloidosis	Chronic kidney disease, Renal amyloidosis, Hepatic amyloidosis	ORPHA:314652
Immunodeficiency 31C	Growth delay, Eczematoid dermatitis, Decreased lymphocyte proliferation in response to anti-CD3, ...	OMIM:614162
Lipodystrophy, Congenital Generalized, Type 2	Umbilical hernia, Hepatic steatosis, Splenomegaly, Nephrolithiasis, Reduced subcutaneous adipose ...	OMIM:269700
Lamellar Ichthyosis	Short stature, Chronic otitis media, Renal insufficiency, Erythroderma	ORPHA:313
Purine Nucleoside Phosphorylase Deficiency	Ataxia, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportio...	ORPHA:760
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Unilateral renal agenesis, Renal hypoplasia, Growth delay, Renal agenesis, Hyperechogenic kidneys...	OMIM:617641
Diffuse Cutaneous Systemic Sclerosis	Oliguria, Autoimmunity, Renal insufficiency, Arthritis, Flexion contracture	ORPHA:220393
Ohdo Syndrome	Proteinuria, Short stature	OMIM:249620
Cardiogenic Shock	Hepatomegaly, Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Exercise-induced myoglobinuria, Achilles tendon contracture, Elevated circulating creatine kinase...	OMIM:607155
Giant Cell Arteritis	Abnormality of thrombocytes, Renal insufficiency, Hematuria, Weight loss, Arthritis, Mediastinal ...	ORPHA:397
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Failure to thrive, ...	ORPHA:416
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Jaun...	OMIM:235555
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Growth delay, Polycythemia	OMIM:250800
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Whipple Disease	Uveitis, Splenomegaly, Infectious encephalitis, Hyponatremia, Hepatomegaly, Cachexia, Myositis, A...	ORPHA:3452
Holoprosencephaly	Abnormality of the urinary system, Failure to thrive in infancy, Abnormality of the spleen, Conge...	ORPHA:2162
Biotinidase Deficiency	Organic aciduria, Hyperammonemia, Splenomegaly, Skin rash, Seborrheic dermatitis, Hepatomegaly, C...	OMIM:253260
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Leukocytosis, Constrictive pericarditis, Weight loss, Lung abscess, Anemia, Acut...	ORPHA:67
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,...	ORPHA:90324
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Multiple bladder diverticula, Recurrent otitis media, Postnatal growth retardation, Intrauterine ...	ORPHA:2728
Hypophosphatemic Bone Disease	Short stature, Hypophosphatemia	OMIM:146350
Behçet Disease	Orchitis, Recurrent aphthous stomatitis, Renal insufficiency, Splenomegaly, Infectious encephalit...	ORPHA:117
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas...	OMIM:609057
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Aplastic anemia, Horseshoe kidney, Postnatal growth retardation, Nephr...	OMIM:610832
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent pneumonia, Umbilical hernia, Persistence of hemoglobin F, Hiatus hernia, Overweight, In...	OMIM:619769
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypospadias, Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst...	ORPHA:33001
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Failure to thrive, Hyperechogenic kidneys, Rhizomelic arm shortening, Renal cortical cysts, Renal...	ORPHA:397715
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Pancytopenia, Abnormality of T cell physiology, Splenomegaly...	OMIM:181000
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Failure to thrive, Impaired T cell function, Splenomegaly, Decreased serum zinc, Hepatomegaly, Sh...	OMIM:201100
Caudal Regression Syndrome	Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d...	ORPHA:3027
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Nephrolithiasis, Hypokalemia, Decreased circulating renin level, Left ventricular hypertrophy, Pr...	OMIM:615474
Fanconi Anemia, Complementation Group O	Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Short stature	OMIM:613390
Fucosidosis	Failure to thrive, Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Hernia, Glycopep...	OMIM:230000
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Cellulitis, Eczematoid dermatitis, Increased circulating IgE level, Osteomyelitis, Skin rash, Eos...	ORPHA:2314
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Microphallus, Hyponatremia, Penoscrotal hypospadias, Micropenis, Perineal hypospadias, Hyperkalem...	OMIM:201810
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts	OMIM:173900
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Ketonuria, Hyperammonemia, Elevated circulating...	OMIM:616878
Viss Syndrome	Atopic dermatitis, Failure to thrive, Eczematoid dermatitis, Umbilical hernia, Increased circulat...	OMIM:619472
Hyperuricemic Nephropathy, Familial Juvenile, 3	Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating abilit...	OMIM:614227
Donnai-Barrow Syndrome	Umbilical hernia, Congenital diaphragmatic hernia, Proteinuria, Omphalocele, Non-acidotic proxima...	OMIM:222448
Distal Deletion 10Q	Acute kidney injury, Functional abnormality of the bladder, Failure to thrive, Horseshoe kidney, ...	ORPHA:96148
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Hyperaldosteronism, Nephrolithiasis	ORPHA:369929
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level, Recurrent pneumonia, Pustule, Failure to thrive	OMIM:616069
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Mercury Poisoning	Hypokalemia, Acute kidney injury, Interstitial pneumonitis	ORPHA:330021
Leprechaunism	Nephrocalcinosis, Long penis, Failure to thrive, Hyperaldosteronism, Postnatal growth retardation...	ORPHA:508
Amyloidosis, Finnish Type	Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom...	OMIM:105120
Mitochondrial Complex I Deficiency, Nuclear Type 29	Stage 5 chronic kidney disease, Hyperalaninemia, Failure to thrive, Lacticaciduria	OMIM:618250
Joubert Syndrome 7	Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:611560
Beckwith-Wiedemann Syndrome	Nephropathy, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycy...	ORPHA:116
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia, Obesity, Abdominal obesity, Nephrolithiasis	OMIM:219090
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Failure to thrive, Hyponatremia, Decreased circulating cortisol level, Jaundice, Hyper...	ORPHA:90790
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Autoimmunity, Splenomegaly, Amelogenesis imperfecta, Lymphadenopathy, Thrombocytopenia...	ORPHA:169090
Megalocornea-Intellectual Disability Syndrome	Short stature, Hypercholesterolemia	ORPHA:2479
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Red-brown urine, Purple urine, Erythroid hyperplasia, Abnormal circulati...	ORPHA:95159
Cranioectodermal Dysplasia 4	Short stature, Bone marrow hypocellularity, Recurrent pneumonia, Stage 5 chronic kidney disease	OMIM:614378
Glycogen Storage Disease Ixc	Postnatal growth retardation, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypert...	OMIM:613027
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Short stature, Persistence of hemoglobin F	OMIM:617101
Neuhauser Syndrome	Short stature, Hypercholesterolemia	OMIM:249310
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Hepatic necrosis, Hepatic steatosis, Myoglobinuria, Growth delay	OMIM:231530
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Failure to thrive, Hepatitis, Hyperbilirubin...	OMIM:613812
Pheochromocytoma	Proteinuria, Renal artery stenosis, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171300
Dyskeratosis Congenita	Bone marrow hypocellularity, Blepharitis, Periodontitis, Intrauterine growth retardation, Splenom...	ORPHA:1775
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Familial Hyperaldosteronism Type Iii	Hypokalemia, Left ventricular hypertrophy, Hypercalciuria, Glucocortocoid-insensitive primary hyp...	ORPHA:251274
Leptospirosis	Acute kidney injury, Uveitis, Hepatitis, Skin rash, Optic neuritis, Cellular urinary casts, Lymph...	ORPHA:509
Reynolds Syndrome	Biliary cirrhosis, Anti-centromere antibody positivity, Steatorrhea, Cholestasis, Lymphopenia, Hy...	OMIM:613471
Lipodystrophy, Congenital Generalized, Type 1	Umbilical hernia, Hepatic steatosis, Splenomegaly, Nephrolithiasis, Reduced subcutaneous adipose ...	OMIM:608594
Monosomy 18Q	Growth delay, Failure to thrive, Slender build, Decreased circulating IgA level, Micropenis, Shor...	ORPHA:1600
Rabson-Mendenhall Syndrome	Nephrocalcinosis, Long penis, Intrauterine growth retardation, Reduced subcutaneous adipose tissu...	ORPHA:769
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Proteinuria, Micronodular cirrhosis	OMIM:192315
Hyperoxaluria, Primary, Type I	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l...	OMIM:259900
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Eczematoid dermatitis, Increased circulating IgE level, Postnatal growth retardation, Delayed pub...	OMIM:618985
Joubert Syndrome 2	Renal cyst, Nephronophthisis, Renal insufficiency, Failure to thrive	OMIM:608091
Malakoplakia	Inflammatory abnormality of the skin, Urinary bladder inflammation, Urinary hesitancy, Follicular...	ORPHA:556
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Renal Hypodysplasia/Aplasia 1	Proteinuria, Bilateral renal agenesis, Renal dysplasia	OMIM:191830
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level, Atrophic scars, Scarring	ORPHA:89843
Down Syndrome	Polycythemia, Umbilical hernia, Obesity, Acute megakaryocytic leukemia, Renal hypoplasia/aplasia,...	ORPHA:870
22Q11.2 Deletion Syndrome	Polycystic kidney dysplasia, Hypospadias, Chronic otitis media, Cholelithiasis, Impaired T cell f...	ORPHA:567
Eisenmenger Syndrome	Bacterial endocarditis, Abnormal circulating B-type natriuretic peptide concentration, Increased ...	ORPHA:97214
Sifrim-Hitz-Weiss Syndrome	Micropenis, Vesicoureteral reflux, Renal insufficiency, Short stature	OMIM:617159
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Eczematoid dermatitis, Elbow flexion contracture, Panniculitis, ...	ORPHA:3132
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter...	OMIM:617394
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Failure to thrive in...	OMIM:619418
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased urinary 11-deoxycorticosterone level, Long penis, Decreased circulating renin level, Hy...	ORPHA:90795
Ventriculomegaly With Cystic Kidney Disease	Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid...	OMIM:219730
Lathosterolosis	Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis	ORPHA:46059
Glycogen Storage Disease Ii	Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatomegaly, Inc...	OMIM:232300
Severe Acute Respiratory Syndrome	Acute kidney injury, Acute infectious pneumonia	ORPHA:140896
Vipoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Subc...	ORPHA:97282
Joubert Syndrome 9	Hepatic fibrosis, Stage 5 chronic kidney disease	OMIM:612285
Riddle Syndrome	Short stature, Decreased circulating IgG level	OMIM:611943
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Increased urinary 11-deoxycorticosterone level, Failure to thrive, Decreased circulating renin le...	ORPHA:90793
Histiocytosis-Lymphadenopathy Plus Syndrome	Flexion contracture of toe, Pancreatic hypoplasia, Camptodactyly of finger, Cervical lymphadenopa...	OMIM:602782
Lmna-Related Cardiocutaneous Progeria Syndrome	Papillary renal cell carcinoma, Abnormal intrahepatic bile duct morphology, Hypercholesterolemia,...	ORPHA:363618
Scleromyxedema	Paraproteinemia, Abnormality of the kidney, Elevated circulating creatine kinase concentration	ORPHA:167635
Immunoglobulin A Vasculitis	Renal insufficiency, Episcleritis, Skin rash, Infectious encephalitis, Hematuria, Proteinuria, Gl...	ORPHA:761
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Inflammatory abnormality of...	ORPHA:95455
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Renal insufficiency, Ep...	ORPHA:728
Isolated Permanent Neonatal Diabetes Mellitus	Moderate albuminuria, Ketonuria, Glycosuria, Failure to thrive, Pancreatic hypoplasia, Intrauteri...	ORPHA:99885
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hyperlipidemia, Splenomegaly, Hepatic steatosis, Portal hyperte...	ORPHA:567983
Alkaptonuria	Aminoaciduria, Elevated urinary homogentisic acid, Dark urine, Black pigment gallstones, Nephroli...	ORPHA:56
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level, Short stature	ORPHA:1858
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Polycythemia, Micronodular cirrhosis, Increased to...	ORPHA:309854
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Increased circulating cortisol level, Increased urinary potassium, Decreased circulating renin le...	ORPHA:231625
Ige Responsiveness, Atopic	Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis	OMIM:147050
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Hyperlipidemia, Splenomegaly, Renal artery atherosclerosis,...	ORPHA:565612
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Cellulitis, Uveitis, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin rash, Orchitis, Myos...	ORPHA:32960
Joubert Syndrome With Oculorenal Defect	Nephropathy, Renal insufficiency	ORPHA:2318
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Renal hypoplasia/aplasia, Short s...	ORPHA:261265
Joubert Syndrome With Renal Defect	Nephropathy, Renal insufficiency	ORPHA:220497
Wagro Syndrome	Proteinuria, Obesity, Nephroblastoma	OMIM:612469
Juvenile Polyposis Syndrome	Anemia, Hypokalemia, Failure to thrive, Hypoalbuminemia	OMIM:174900
Duplication Of Urethra	Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli...	ORPHA:237
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Failure to thrive, Increased circulating IgE level, Psoriasiform dermatitis, Eos...	OMIM:615508
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Joint contracture of the hand, Vesicovaginal fistula, Horseshoe kidney, Decreased circulating ren...	OMIM:201750
Trichothiodystrophy 5, Nonphotosensitive	Micropenis, Intrauterine growth retardation, Chronic decreased circulating IgG1, Short stature	OMIM:300953
Apparent Mineralocorticoid Excess	Failure to thrive, Decreased circulating renin level, Hypokalemia, Short stature, Growth delay, S...	OMIM:218030
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Reduced pancreatic beta cells, Renal insufficiency, Short stature	OMIM:226980
Proteasome-Associated Autoinflammatory Syndrome 4	Generalized lipodystrophy, Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, ...	OMIM:619183
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Acute Liver Failure	Acute kidney injury, Hepatitis, Hepatocellular necrosis, Hepatic periportal necrosis, Hepatic nec...	ORPHA:90062
Camurati-Engelmann Disease	Urinary retention, Slender build, Leukopenia, Splenomegaly, Abnormal subcutaneous fat tissue dist...	ORPHA:1328
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Interstitial Lung Disease 2	Cirrhosis, Increased circulating antibody level	OMIM:178500
Encephalitis Lethargica	Urinary incontinence, Autoimmunity, Increased circulating antibody level	ORPHA:83600
Renal Tubular Dysgenesis	Abnormality of the urinary system, Renotubular dysgenesis, Anuria	OMIM:267430
Myoglobinuria, Recurrent	Exercise-induced myoglobinuria, Recurrent myoglobinuria	OMIM:550500
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Increased urinary potassium, ...	ORPHA:231580
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Cranioectodermal Dysplasia 1	Chronic kidney disease, Malformation of the hepatic ductal plate, Hepatic fibrosis, Rhizomelia, R...	OMIM:218330
Feingold Syndrome Type 1	Nephritis, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Hydronephrosis, Abnormal...	ORPHA:391641
Fibrous Dysplasia Of Bone	Short stature, Hypophosphatemia, Hypercalcemia, Increased circulating cortisol level	ORPHA:249
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu...	OMIM:127550
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:277460
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Hydroureter, Polysplenia, Camptodactyly of finger, Increased circul...	ORPHA:373
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Lipoma, Renal hypoplasia, Splenomegaly, Nephroblastoma	OMIM:612918
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Nephrolithiasis, Calcium Oxalate, 1	Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr...	OMIM:167030
Hand-Foot-Genital Syndrome	Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C...	OMIM:140000
Caffey Disease	Cellulitis, Increased circulating antibody level	ORPHA:1310
Williams Syndrome	Chronic otitis media, Cholelithiasis, Failure to thrive in infancy, Obesity, Renal insufficiency,...	ORPHA:904
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom...	OMIM:233710
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration...	ORPHA:77293
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Cellulitis, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom...	OMIM:233690
Hyperlipoproteinemia, Type Id	Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri...	OMIM:615947
Blau Syndrome	Nephropathy, Posterior uveitis, Keratitis, Camptodactyly of finger, Abnormality of the liver, Sta...	ORPHA:90340
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Ascites, Bladder fistula, Renal insu...	ORPHA:105
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr...	ORPHA:508542
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Stage 5 chronic kidney disease, Hepatic cysts	OMIM:613819
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:144010
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Hereditary Sensory And Autonomic Neuropathy Type 4	Chronic kidney disease, Abnormality of humoral immunity, Septic arthritis, Atypical scarring of s...	ORPHA:642
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Short stature, Ecto...	ORPHA:140952
Hereditary Chronic Pancreatitis	Leukocytosis, Pancreatic calcification, Recurrent pancreatitis, Elevated circulating C-reactive p...	ORPHA:676
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Exocrine pancreatic insufficiency, Abnormal dental enamel morpholog...	ORPHA:2750
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Cellulitis, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermati...	OMIM:306400
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Skin rash, Splenomegaly	ORPHA:53715
Enamel-Renal Syndrome	Nephropathy, Nephrocalcinosis, Hypocalciuria, Abnormal dental enamel morphology, Hypophosphaturia...	ORPHA:1031
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Aymé-Gripp Syndrome	Postnatal growth retardation, Inguinal hernia, Congenital diaphragmatic hernia, Proteinuria, Camp...	ORPHA:1272
Neurooculorenal Syndrome	Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki...	OMIM:620305
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k...	OMIM:602668
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Williams-Beuren Syndrome	Recurrent otitis media, Failure to thrive in infancy, Obesity, Renal insufficiency, Inguinal hern...	OMIM:194050
Pmm2-Cdg	Hypoalbuminemia, Hepatic fibrosis, Failure to thrive, Aspiration pneumonia, Multiple joint contra...	ORPHA:79318
Orofaciodigital Syndrome I	Hepatic fibrosis, Hepatic cysts, Proteinuria, Enamel hypoplasia, Short stature, Pancreatic cysts,...	OMIM:311200
Inflammatory Skin And Bowel Disease, Neonatal, 1	Failure to thrive, Increased circulating IgE level, Pustule, Erythroderma, Blepharitis	OMIM:614328
Diarrhea 1, Secretory Chloride, Congenital	Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Growth delay, Hypochloremia, In...	OMIM:214700
Hermansky-Pudlak Syndrome 1	Colitis, Inflammation of the large intestine, Renal insufficiency	OMIM:203300
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia, Truncal obes...	OMIM:615812
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Von Hippel-Lindau Syndrome	Polycythemia, Multiple renal cysts, Renal cell carcinoma, Hepatic hemangioma, Pancreatic cysts, N...	OMIM:193300
African Trypanosomiasis	Myelitis, Keratitis, Conjunctivitis, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Abnor...	ORPHA:3385
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Dentinogenesis imperfecta, Periodontitis, Obesity, Proportionate short stat...	OMIM:619269
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Joubert Syndrome 6	Hepatic fibrosis, Stage 5 chronic kidney disease, Bile duct proliferation, Nephronophthisis	OMIM:610688
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Renal insufficiency, Multiple lipoma...	OMIM:181270
Tuberous Sclerosis Complex	Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Pulmo...	ORPHA:805
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron...	OMIM:613159
Exstrophy-Epispadias Complex	Penoscrotal transposition, Renal hypoplasia, Bladder exstrophy, Horseshoe kidney, Abnormality of ...	ORPHA:322
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Renal cortical adenoma, Decre...	ORPHA:231632
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Rhizomelia, Disproportionate short-limb short stature, Neutropenia	OMIM:271510
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ...	ORPHA:48377
Whim Syndrome	Lymphadenitis, Abnormal neutrophil morphology, Lymphopenia, Limb ataxia, Neutropenia	ORPHA:51636
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Absence of subcutaneous fat, Keratoconjunctivitis sicca, Erythro...	OMIM:601675
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Sotos Syndrome	Hypospadias, Ankle flexion contracture, Renal agenesis, Umbilical hernia, Renal insufficiency, Ve...	ORPHA:821
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Short stature, Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Bardet-Biedl Syndrome	Chronic kidney disease, Hepatic fibrosis, Inflammation of the large intestine, Decreased HDL chol...	ORPHA:110
Scorpion Envenomation	Acute kidney injury, Ketonuria, Glycosuria, Hypokalemia, Increased circulating creatine kinase MB...	ORPHA:466677
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss	OMIM:188580
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Weight loss	OMIM:613239
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hyperaldosteronism	OMIM:605635
Epilepsy-Telangiectasia Syndrome	Short stature, Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Fetal megacystis	OMIM:619351
Glutaryl-Coa Dehydrogenase Deficiency	Chronic kidney disease, Glutaric aciduria	ORPHA:25
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Failure to thrive, Umbilical hernia, Decreased circulating IgA l...	OMIM:617062
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Failure to thrive, Vesicoureteral reflux,...	OMIM:616580
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level, Allergic rhinitis, Atopic dermatitis	ORPHA:90368
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Failure to thrive, Intrauterine growth retardation, Vesicoureteral ...	ORPHA:199
Serotonin Syndrome	Acute kidney injury	ORPHA:43116
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Long penis, Decreased circulating renin level, Hypokalemia, Elevated serum 11-deoxycortisol, Shor...	OMIM:202010
Cranioectodermal Dysplasia 3	Rhizomelia, Nephronophthisis, Stage 5 chronic kidney disease, Cirrhosis, Short stature	OMIM:614099
Familial Hyperaldosteronism Type I	Hypokalemia, Dexamethasone-suppressible primary hyperaldosteronism	ORPHA:403
Nelson Syndrome	Hypokalemia, Increased urinary cortisol level, Increased circulating cortisol level, Secondary hy...	ORPHA:199244
Familial Hyperaldosteronism Type Ii	Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism	ORPHA:404
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Hepatic fibrosis, Small for gestational age, Failure to thrive, Ascites...	OMIM:243800
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating creatine kinase concentration, Increased circulating antibody level, Elevate...	OMIM:606002
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Renal artery stenosis, Hyperlipidemia, Hepatic steatosis...	ORPHA:391665
Costello Syndrome	Failure to thrive, Renal insufficiency, Lymphangiectasis, Achilles tendon contracture, Short stature	OMIM:218040
Townes-Brocks Syndrome	Renal hypoplasia, Failure to thrive, Renal insufficiency, Vesicoureteral reflux, Multiple renal c...	ORPHA:857
Joubert Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu...	OMIM:610188
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Rhizomelia, Annular pancreas, Eczematoid dermatitis, Elbow contracture, Knee f...	OMIM:618162
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia, Increased urinary cortisol level, Acne, Increased circulating cortisol level	ORPHA:786
Orofaciodigital Syndrome Type 3	Stage 5 chronic kidney disease	ORPHA:2752
Steinert Myotonic Dystrophy	Cholelithiasis, Hypercholesterolemia	ORPHA:273
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia, Enamel hypoplasia, Short stature	OMIM:170390
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent pneumonia, Cutaneous abscess, Increased hepatic echogenicity, Eczematoid dermatitis, In...	OMIM:147060
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral renal agenesis, Decreased circulating IgG level, Horseshoe kidney, Failure to thrive i...	ORPHA:500150
Aneurysm Of Sinus Of Valsalva	Bacterial endocarditis, Oliguria	ORPHA:1054
Townes-Brocks Syndrome 1	Renal hypoplasia, Multicystic kidney dysplasia, Small for gestational age, Umbilical hernia, Rena...	OMIM:107480
Tropical Endomyocardial Fibrosis	Hypoalbuminemia, Increased circulating interleukin 6 concentration, Ascites, Splenomegaly, Cardio...	ORPHA:75565
Oculoskeletodental Syndrome	Nephrocalcinosis, Hypocalcemia, Enamel hypoplasia, Short stature, Hypercalcemia	ORPHA:557003
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Moderate albuminuria, Obesity, Jaundice	OMIM:614231
Floating-Harbor Syndrome	Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Growth delay, Stage 5 chronic k...	ORPHA:2044
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Hiatus hernia	OMIM:616682
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypokalemia, Hyponatremia, Failure to thrive	OMIM:618426
Tsh-Secreting Pituitary Adenoma	Hypokalemia, Weight loss, Delayed puberty	ORPHA:91347
Cysticercosis	Increased anti-parasite IgE antibody level, Infectious encephalitis, Iridocyclitis, Increased cir...	ORPHA:1560
Trichinellosis	Increased circulating IgE level, Conjunctivitis, Skin rash	ORPHA:863
Vascular Ehlers-Danlos Syndrome	Periodontitis, Cigarette-paper scars, Umbilical hernia, Cystocele, Inguinal hernia, Uterine prola...	ORPHA:286

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 Pik3c2a

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 Pik3c2a.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
PI(3,4)P2-mediated cytokinetic abscission prevents early senescence and cataract formation.	Science (New York, N.Y.) (December 2021)	Pik3c2a^{tm1a(EUCOMM)Hmgu}	PMC7612254

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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
Pik3c2a^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Pik3c2a^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Pik3c2a^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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: Pik3c2a MGI:1203729

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Embryo LacZ

X-ray

Gross Pathology and Tissue Collection

Eye Morphology

Combined SHIRPA and Dysmorphology

X-ray

X-ray

Gross Morphology Embryo E9.5

Human diseases caused by Pik3c2a mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data