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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
embryonic lethality prior to tooth bud stage	Pik3c2a^{tm1b(EUCOMM)Hmgu}	HOM	E12.5	0.00
decreased locomotor activity	Pik3c2a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.77×10^-05
enlarged lymph nodes	Pik3c2a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	0.00
abnormal embryo size	Pik3c2a^{tm1b(EUCOMM)Hmgu}	HOM	E9.5	0.00
preweaning lethality, complete penetrance	Pik3c2a^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased neutrophil cell number	Pik3c2a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.32×10^-14
embryonic growth retardation	Pik3c2a^{tm1b(EUCOMM)Hmgu}	HOM	E9.5	0.00
decreased lymphocyte cell number	Pik3c2a^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.66×10^-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

4 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 (1619 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Oculoskeletodental Syndrome		Hepatomegaly, Renal agenesis, Hypercalcemia, Small for gestational age, Short stature, Splenomega...	OMIM:618440
Oculoskeletodental Syndrome		Short stature, Hypercalcemia, Nephrocalcinosis, Hypocalcemia, Enamel hypoplasia	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, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Bleeding Disorder, Platelet-Type, 11	Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet count,...	OMIM:614201
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion	OMIM:209050
Glanzmann Thrombasthenia 1	Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ...	OMIM:273800
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El...	OMIM:615559
Glanzmann Thrombasthenia 2	Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ...	OMIM:619267
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, M...	OMIM:155100
Platelet Disorder, Undefined	Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant...	OMIM:603909
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Bleeding Disorder, Platelet-Type, 22	Impaired platelet aggregation	OMIM:618462
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Immunodeficiency 27A	Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi...	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, Anti-th...	OMIM:618534
Immunodeficiency, Common Variable, 6	Hepatomegaly, Decreased specific pneumococcal antibody level, Glomerulonephritis, Autoimmune thro...	OMIM:613496
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Impaired platelet aggr...	OMIM:601399
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia...	ORPHA:470
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Maculo...	OMIM:619644
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lipodystrophy, Skin rash, Elevated circulating C-reactive protein concen...	OMIM:618048
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Renal Hypoplasia, Bilateral	Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Short stature, Chronic k...	ORPHA:97362
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ...	OMIM:615888
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant...	OMIM:601859
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Lipodystrophy, Mesangial hyp...	ORPHA:329918
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst,...	OMIM:617056
Glanzmann Thrombasthenia	Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired ADP-induced pla...	ORPHA:849
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Reni Syndrome	Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Mesangial hypercellu...	OMIM:617575
Von Willebrand Disease	Abnormality of thrombocytes, Abnormal platelet function	ORPHA:903
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis...	OMIM:618963
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmunity, Autoimmune thrombocytopenia, Follicul...	OMIM:614470
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Gray Platelet Syndrome	Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha...	OMIM:139090
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Hermansky-Pudlak Syndrome 3	Impaired platelet aggregation, Abnormal number of dense granules	OMIM:614072
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chronic ...	OMIM:613845
Preeclampsia	Increased body mass index, Proteinuria, Abnormality of the kidney, Autoimmunity, Small for gestat...	ORPHA:275555
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Bernard-Soulier Syndrome	Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Giant platelets, Macro...	OMIM:231200
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Proteinuria, E...	OMIM:614034
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody...	ORPHA:93126
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ...	ORPHA:567548
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc...	ORPHA:3261
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Chilblains, I...	OMIM:619858
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thromb...	OMIM:102700
Myh9-Related Disease	Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc...	ORPHA:182050
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Pancreatic fibrosis, Short stature, Hepatocellular carcinoma, Splenome...	OMIM:232220
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Progressive...	OMIM:608709
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi...	OMIM:619281
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Bleeding Disorder, Platelet-Type, 17	Prolonged bleeding time, Increased RBC distribution width, Macrothrombocytopenia, Absence of alph...	OMIM:187900
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Short stature, M...	ORPHA:1830
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane...	OMIM:617780
Drug-Induced Lupus Erythematosus	Pericarditis, Decreased circulating complement C4 concentration, Elevated circulating creatine ki...	ORPHA:231111
Hemorrhagic Fever-Renal Syndrome	Increased circulating interleukin 6 concentration, Anuria, Proteinuria, Glomerulonephritis, Pneum...	ORPHA:340
Platelet Glycoprotein Iv Deficiency	Prolonged bleeding time, Giant platelets, Thrombocytopenia	OMIM:608404
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma...	OMIM:256300
Von Willebrand Disease, Type 3	Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ...	ORPHA:443811
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Impaired thromboxane A2 agonist-induced platelet aggregation	OMIM:614009
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv...	OMIM:308240
Bleeding Disorder, Platelet-Type, 8	Impaired ADP-induced platelet aggregation	OMIM:609821
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Atypical Hemolytic Uremic Syndrome	Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s...	ORPHA:2134
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decrease...	ORPHA:169154
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Myositis, Antiphospholipid antibody positivity, Rheumatoid factor positive, Skin ras...	OMIM:615934
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa...	OMIM:615513
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Diffuse Alveolar Hemorrhage	Antiphospholipid antibody positivity, Rheumatoid factor positive, Proteinuria, Autoimmunity, Anti...	ORPHA:90060
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc...	OMIM:615897
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Short stature, Minimal change glomerulonephriti...	OMIM:618348
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612926
Hypocalcemia, Autosomal Dominant 1	Short stature, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia,...	OMIM:601198
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Eczema, Thrombocytopenia, Increase...	OMIM:304790
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Rheumatoid factor positive, Reduced circulatin...	OMIM:619632
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent tonsillitis, Recurrent p...	OMIM:613779
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elb...	OMIM:604416
Pseudo-Von Willebrand Disease	Prolonged bleeding time, Intermittent thrombocytopenia	OMIM:177820
Systemic Lupus Erythematosus 16	Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula...	OMIM:614420
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli...	OMIM:615592
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal...	ORPHA:232
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Autoimmunity, Lipoatrophy, Decreased circulating complement C3 conce...	ORPHA:79087
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Flexion contracture, Neutropenia, Recu...	OMIM:617303
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Proteinuria, Elevated circulating creatine kinase concentration, Claw hand deformity, Stage 5 chr...	OMIM:614455
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Autoimmunity, Absent peripheral lymph nodes in presence of infec...	ORPHA:98813
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno...	ORPHA:91139
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Anti-thyroid peroxidase antibody positivity, Abnormal blood ion concentration, Tubuloin...	ORPHA:37042
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Short stature, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal seg...	OMIM:308990
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea...	OMIM:152700
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Hypospadias, Short stature, Increased mean plate...	OMIM:222470
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Increased circulating antibody level, Histiocytosis	OMIM:235900
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Stomatitis, Chronic pancreati...	OMIM:232240
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Autoimmune Hepatitis	Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG...	ORPHA:2137
Transcobalamin Deficiency	Decreased circulating IgG level, Pancytopenia, Methylmalonic aciduria, Decreased circulating anti...	ORPHA:859
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Decreased circulating complement factor H concentration, Decreased circu...	OMIM:235400
Oligomeganephronia	Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Congenita...	ORPHA:2260
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Short stature, Hypocitraturia, Nephrolith...	ORPHA:18
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Brucellosis	Liver abscess, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration,...	ORPHA:1304
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Hematuria, Nephrotic syndro...	OMIM:613913
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Autoimmunity, Lymp...	OMIM:618495
Insulin-Resistance Syndrome Type B	Osteoarthritis, Increased body weight, Leukopenia, Increased circulating IgG level, Hypoalbuminem...	ORPHA:2298
Schimke Immunoosseous Dysplasia	Renal insufficiency, Pancytopenia, Proteinuria, Small for gestational age, Abnormal immunoglobuli...	OMIM:242900
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Rheumatoid factor positive, Elevated circulating C-reactive protein concentrat...	ORPHA:49041
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease...	OMIM:162000
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati...	OMIM:615285
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Severe short stature, Elevated circulating creatinine concentration, Decreased glome...	OMIM:242530
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood...	ORPHA:94088
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protei...	OMIM:617099
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Renal lymphocytic tubulitis, Elevated circulating C-reactive protein concentra...	ORPHA:91500
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ...	ORPHA:54057
Neuroleptic Malignant Syndrome	Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati...	ORPHA:94093
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly,...	OMIM:619487
Activated Pi3K-Delta Syndrome	Hepatomegaly, Autoimmunity, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decre...	ORPHA:397596
Syndromic Diarrhea	Hepatomegaly, Inguinal hernia, Small for gestational age, Gastritis, Increased mean platelet volu...	ORPHA:84064
Nephrotic Syndrome, Type 17	Proteinuria, Short stature, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M...	OMIM:618176
Galloway-Mowat Syndrome 6	Proteinuria, Short stature, Growth delay, Nephrotic syndrome, Focal segmental glomerulosclerosis,...	OMIM:618347
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Lymphade...	ORPHA:100024
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Igg4-Related Aortitis	Increased inflammatory response, Autoimmunity, Elevated circulating C-reactive protein concentrat...	ORPHA:449400
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Hypop...	OMIM:613388
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp...	ORPHA:251004
Hermansky-Pudlak Syndrome 5	Prolonged bleeding time, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio...	OMIM:614074
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
Igg4-Related Kidney Disease	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Renal intersti...	ORPHA:449395
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Proteinuria, Thrombocytopenia	OMIM:189800
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Thymoma	Myositis, Aplastic anemia, Autoimmunity, Glomerulonephritis, Pure red cell aplasia, Abnormal lymp...	ORPHA:99867
Boutonneuse Fever	Renal insufficiency, Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Lymphadenopath...	ORPHA:83313
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Hepatomegaly, Pericarditis, Proteinuria, Abnormal subcutaneous f...	OMIM:212065
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Malaria	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Acut...	ORPHA:673
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri...	ORPHA:99845
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Short stature, Hepatocellular carcinoma, Hyperlipidemia, Delayed puber...	OMIM:232200
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Hypercalcemia, Infantile, 2	Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin...	OMIM:616963
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I...	OMIM:613652
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Abscess, Eosinophilia, Hepatic cysts, Abnormality o...	ORPHA:400
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Orthostatic Hypotension 2	Anemia, Decreased glomerular filtration rate	OMIM:618182
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM l...	ORPHA:37748
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr...	OMIM:607426
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Short stature, Stage 5 c...	OMIM:617730
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N...	OMIM:617585
Tempi Syndrome	Increased circulating IgG level, Increased hematocrit, Polycythemia	ORPHA:284227
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma...	ORPHA:2688
Immunodeficiency 23	Hemolytic anemia, Lymphopenia, Membranoproliferative glomerulonephritis, Rheumatoid factor positi...	OMIM:615816
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, ...	OMIM:620010
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono...	OMIM:616871
Juvenile Arthritis	Antinuclear antibody positivity, Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Failure to thrive in infancy, Eczema, Decreased proportion of CD8-posi...	OMIM:617241
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Short stature, Eosinophilia, Atopic dermatitis, Hepatosplenomega...	OMIM:618999
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Hermansky-Pudlak Syndrome 6	Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules	OMIM:614075
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Red...	OMIM:314050
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir...	ORPHA:36234
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, Thromboc...	ORPHA:824
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Hypercalciuri...	OMIM:239200
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Jaundice, Schistocytos...	OMIM:274150
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, F...	ORPHA:79312
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Cardiomegaly, Antinuclear antibody ...	ORPHA:99931
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ...	OMIM:619773
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Blue Diaper Syndrome	Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Hyperphosphatemia	ORPHA:94086
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Hydronephrosis, Increased mean platelet volume	OMIM:300048
Pelger-Huet Anomaly	Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr...	OMIM:169400
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc...	OMIM:143880
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Autoimmunity, Autoimmune antibody positivity, Chronic mucocutaneous cand...	ORPHA:36913
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Short stature, Rhizomelia, Elevat...	OMIM:614376
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ...	OMIM:245900
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Hyperammonemia, Failure to thrive, Anemia	ORPHA:28
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Lupus anticoagulant, Hashimoto...	OMIM:615688
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, B...	OMIM:226990
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stool...	OMIM:619868
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Short stature, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Ne...	OMIM:301006
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Anemia, Lymphadenopathy	OMIM:312500
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Failure to thrive in infancy, Short stature, Rhizomelia, Hemoly...	OMIM:611209
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Renal tubular dysfunction, G...	ORPHA:289916
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Myoglobinuria, Hyperkalemia, Growth delay, Elevated creatine kinase after exerc...	ORPHA:57
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal...	OMIM:613090
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Nephronophthisis	Renal insufficiency, Anemia	ORPHA:655
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Short stature, Autoimmunity, Splenomegaly, Enlarged tonsils, Bro...	OMIM:616005
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Bleeding Disorder, Platelet-Type, 12	Impaired platelet aggregation	OMIM:605735
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce...	OMIM:276700
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Short stature, Eczema, Postnatal growth retardation, Thyroiditis, Weight loss,...	OMIM:212750
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n...	OMIM:617872
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ...	OMIM:612541
Hermansky-Pudlak Syndrome 11	Reduced platelet dense granules, Impaired collagen-induced platelet aggregation	OMIM:619172
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit...	OMIM:260920
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Short stature, Hiatus hernia, Stage 5 chronic kidney di...	OMIM:617729
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration, Obesity	OMIM:603233
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T...	ORPHA:494444
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thrombocytosis	ORPHA:134
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:256100
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Nephrotic Syndrome, Type 22	Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base...	OMIM:619155
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Decreased circulating antibody level, Growth delay, Iron deficiency anemia, Hypoalb...	OMIM:226300
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Dent Disease 2	Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc...	OMIM:300555
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Nodular regenerative hyperplasia of liver, ...	ORPHA:247691
Complement Component 4A Deficiency	Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced hemolytic compleme...	OMIM:614380
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Postnatal growth retardation, Flexion contracture, Elevated circulatin...	OMIM:616733
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Pseudohypoparathyroidism, Type Ic	Short stature, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH a...	OMIM:612462
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Ketonuria, Leukocytosis, Jaundice, Lipid accumulation in hepato...	ORPHA:20
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Impaired platelet aggregation	OMIM:614076
Hyperprolinemia Type 1	Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria	ORPHA:419
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Postnatal growth retardation, Elevated circulating creatinine con...	OMIM:620366
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Lymphopenia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin inf...	ORPHA:486
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Antinuclear an...	OMIM:616414
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem...	ORPHA:439232
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Slc35A1-Cdg	Prolonged bleeding time, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia	ORPHA:238459
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane...	OMIM:243150
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Postinfectious Vasculitis	Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Gastrointestin...	ORPHA:48435
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive...	OMIM:619824
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadeni...	OMIM:618886
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic...	OMIM:614377
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Flexion contracture, Hepatospl...	ORPHA:505248
Muckle-Wells Syndrome	Renal insufficiency, Maculopapular exanthema, Short stature, Elevated circulating C-reactive prot...	OMIM:191900
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Pediatric Systemic Lupus Erythematosus	Myositis, Leukopenia, Decreased circulating complement C4 concentration, Lupus anticoagulant, Nep...	ORPHA:93552
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht...	OMIM:606966
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Short stature, Increased circulating IgA level, Abdominal adhesions, Neutropen...	OMIM:616395
Lathosterolosis	Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic cholestasis, S...	OMIM:607330
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad...	ORPHA:444463
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Anemia, Ascites, Thro...	ORPHA:2123
Pseudohypoparathyroidism, Type Ia	Short stature, Obesity, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration,...	OMIM:103580
Essential Thrombocythemia	Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,...	ORPHA:3318
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy	OMIM:257970
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Storage Pool Platelet Disease	Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia	OMIM:185050
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Nephrocalcinos...	OMIM:611590
Paroxysmal Nocturnal Hemoglobinuria	Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti...	ORPHA:447
Galactokinase Deficiency	Hepatomegaly, Small for gestational age, Hepatosplenomegaly, Increased level of galactitol in pla...	ORPHA:79237
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Short s...	OMIM:251300
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Anemia	ORPHA:2668
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Renal insufficiency, Short stature, Jaundice, Chronic kidney disease,...	ORPHA:1667
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Short stature, Macular scar, Hydroxyprolinemia, Hypercal...	OMIM:239000
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ...	ORPHA:488627
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Proteinuria, Short stature, Macronodular cirrhosis, Abnormal T cell mo...	OMIM:215250
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Hepa...	OMIM:300400
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Hematuria, Arthritis, Anemia	ORPHA:375
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Acute colitis, Leukocytosis, Schistocytosis, Elevated circ...	ORPHA:90038
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Majeed Syndrome	Glomerulopathy, Failure to thrive, Hepatomegaly, Proteinuria, Acne, Cachexia, Congenital hypoplas...	ORPHA:77297
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Glycogen Storage Disease Vi	Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Postnatal growth retardation, H...	OMIM:232700
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:613550
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Decreased lymphocyte proliferati...	OMIM:620282
Type 1 Diabetes Mellitus	Autoimmunity, Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopeni...	ORPHA:27
Nephrosialidosis	Renal insufficiency, Bone-marrow foam cells, Nephrotic syndrome, Nephropathy, Ascites	OMIM:256150
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Antinuclear antibody positivity, Discoid ...	ORPHA:536
Pseudohypoparathyroidism Type 2	Calcinosis, Autoimmune antibody positivity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic A...	ORPHA:94090
Lesch-Nyhan Syndrome	Renal insufficiency, Gout, Hematuria, Hyperuricemia, Anemia	ORPHA:510
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Short stature, Elevated circulating creatine kinase concentration...	OMIM:619743
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased...	OMIM:618061
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Short stature, Stage 5 chronic kidney disease, Renal cyst, O...	OMIM:615993
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Short sta...	OMIM:612526
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Interstitial Lung And Liver Disease	Hepatomegaly, Intraalveolar phospholipid accumulation, Hyperammonemia, Cholestasis, Aminoaciduria...	OMIM:615486
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ...	OMIM:248250
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p...	ORPHA:209004
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Bardet-Biedl Syndrome 10	Renal insufficiency, Obesity, Renal cyst	OMIM:615987
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Short stature, Thrombocytopenia, H...	OMIM:617053
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent...	ORPHA:1652
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Growth delay, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Calciphylaxis	Hyperphosphatemia, Stage 5 chronic kidney disease, Cellulitis	ORPHA:280062
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Foot joint contracture, Proteinuria, Scarring, Postnatal growt...	ORPHA:90321
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Severe short stature, Proteinuria	ORPHA:2820
Yellow Fever	Renal insufficiency, Anuria, Neutrophilia, Elevated circulating creatine kinase concentration, In...	ORPHA:99829
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease, Obesity	OMIM:615995
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell count,...	ORPHA:331206
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia...	OMIM:607594
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma...	OMIM:619113
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Recurrent skin...	OMIM:620210
Takenouchi-Kosaki Syndrome	Inguinal hernia, Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Camptoda...	OMIM:616737
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Short stature, Proteinuria, Nephrotic syndrome, Nephropathy, Anemia	ORPHA:1192
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Impaired platelet aggregation	OMIM:618372
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentra...	ORPHA:264580
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Hyperphosphatemia, Hypocalcemia, Severe intrauterine growth retarda...	OMIM:241410
Babesiosis	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thromboc...	ORPHA:108
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ...	OMIM:212050
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, Hy...	ORPHA:398063
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ...	OMIM:602088
Bardet-Biedl Syndrome 14	Renal insufficiency, Obesity	OMIM:615991
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures	ORPHA:2239
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia	OMIM:602079
Lymphoproliferative Syndrome 1	Hepatomegaly, Autoimmune hemolytic anemia, Pancytopenia, Stomatitis, Autoimmunity, Elevated circu...	OMIM:613011
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Immunodeficiency, Common Variable, 7	Recurrent urinary tract infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced...	OMIM:614699
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Le...	ORPHA:507
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Von Willebrand Disease, Type 1	Prolonged bleeding time, Impaired platelet aggregation	OMIM:193400
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i...	OMIM:232800
Galactosemia I	Hemolytic anemia, Hepatomegaly, Increased level of galactitol in plasma, Albuminuria, Aminoacidur...	OMIM:230400
Hermansky-Pudlak Syndrome 2	Prolonged bleeding time, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natural...	OMIM:608233
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentra...	ORPHA:79240
Kimura Disease	Eosinophilia, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Renal agenesis, Hypospadias, Pure red cell apl...	ORPHA:124
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia, Failure to ...	OMIM:230350
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Hyper...	ORPHA:713
Bernard-Soulier Syndrome	Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce...	ORPHA:274
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis, Neutropenia	OMIM:162700
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Microscopic hematuria	ORPHA:2613
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, He...	OMIM:278000
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Eosinophilic infiltration of the esophagus, Eczema, Increased circulating IgE level...	OMIM:243700
Autoerythrocyte Sensitization Syndrome	Superficial dermal perivascular inflammatory infiltrate, Autoimmune thrombocytopenia, Abnormal er...	ORPHA:324636
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Hyp...	OMIM:227810
Pearson Syndrome	Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos...	ORPHA:699
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Ulcerative colitis, Elevated circulating C-reactive protein concentration	OMIM:619398
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, ...	OMIM:619603
Sanjad-Sakati Syndrome	Hypoplasia of penis, Short stature, Abnormal dental enamel morphology, Postnatal growth retardati...	ORPHA:2323
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Tubuloin...	ORPHA:79259
Pseudohypoparathyroidism Type 1B	Calcinosis, Short stature, Autoimmune antibody positivity, Hyperphosphatemia, Conjunctivitis, Hyp...	ORPHA:94089
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Absence of lymph node...	ORPHA:277
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ...	OMIM:617595
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati...	ORPHA:90041
Hepatic Veno-Occlusive Disease	Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight, Ascites, Increased total bili...	ORPHA:890
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Proteinuria, Abnormality of the kidney, Short stature, Hyperlipidemia, Increased he...	ORPHA:369
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Short stature, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM...	OMIM:242860
Immunodeficiency 96	Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-delta T cells, Growth delay, ...	OMIM:619774
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne...	OMIM:300908
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N...	OMIM:105200
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Elevated circulating C-reactive protein concentration, Antinuclear antibody positivity...	OMIM:617718
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Renal insufficiency, Decreased circulating cortisol level, Hyper...	ORPHA:95409
Acrodysostosis 1 With Or Without Hormone Resistance	Mild postnatal growth retardation, Short stature, Small for gestational age, Unilateral renal age...	OMIM:101800
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis, Thrombocytopenia	ORPHA:3327
Legionnaires Disease	Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Jaundice, Myocarditis...	ORPHA:549
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Abnormal circulating lipid concentration, Proteinuria	ORPHA:225
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ...	OMIM:269920
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula...	OMIM:301074
Cystinosis	Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Renal tubular dysfunction, ...	ORPHA:213
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ...	ORPHA:289390
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g...	ORPHA:84090
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Bartter Syndrome, Type 2, Antenatal	Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased circulating ren...	OMIM:241200
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Osteoarth...	ORPHA:77259
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Cholestatic liver disease, Chronic kidney disease, Abnormal tubulointerstitial morph...	OMIM:602114
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Weight loss, Decreased circulating antibody...	ORPHA:90362
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:276621
Zika Virus Disease	Maculopapular exanthema, Skin rash, Increased circulating IgM level, Arthritis, Conjunctivitis, M...	ORPHA:448237
Immunodeficiency 43	Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha...	OMIM:241600
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc...	ORPHA:555905
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Bone-...	OMIM:607616
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Bartter Syndrome, Type 1, Antenatal	Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased circulating ren...	OMIM:601678
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Sho...	OMIM:256550
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Short stature, Decreased circulating IgA level, Decreased circulating ...	OMIM:617744
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Increase...	OMIM:618892
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Lymphopeni...	OMIM:618986
Cog4-Cdg	Failure to thrive in infancy, Hepatosplenomegaly, Growth delay, Cirrhosis, Hypercholesterolemia, ...	ORPHA:263501
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:605258
Immunodeficiency 62	Autoimmune thrombocytopenia, Bronchiectasis, Decreased circulating total IgM, Increased proportio...	OMIM:618459
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Pseudopseudohypoparathyroidism	Short stature, Obesity, Hyperphosphatemia, Hypocalcemia, Intrauterine growth retardation	ORPHA:79445
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia	ORPHA:3319
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Circulating immune complexes, Lymphad...	ORPHA:2035
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu...	ORPHA:79078
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Small for gestational age, Hypochromic microcytic ...	OMIM:619147
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Short sta...	ORPHA:2968
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon...	OMIM:251000
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ...	OMIM:608106
Poems Syndrome	Lipodystrophy, Weight loss, Lymphadenopathy, Increased circulating antibody level, Thrombocytosis...	ORPHA:2905
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Sple...	OMIM:603552
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Hypouricemia, Incre...	OMIM:613179
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Growth delay, Ren...	OMIM:243910
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy...	ORPHA:466650
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Short stature, Polyuria, Megacystis, Hypernatremia, Failure to thrive	OMIM:125800
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia...	OMIM:277400
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Short stature, Polyuria, Megacystis, Hypernatremia, Failure to thrive	OMIM:304800
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallb...	ORPHA:171
Goodpasture Syndrome	Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul...	OMIM:233450
Pseudohypoparathyroidism Type 1A	Calcinosis, Short stature, Autoimmune antibody positivity, Obesity, Hyperphosphatemia, Conjunctiv...	ORPHA:79443
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid...	OMIM:300653
Sepsis In Premature Infants	Hepatomegaly, Increased circulating interleukin 6 concentration, Small for gestational age, Eleva...	ORPHA:90051
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Mevalonic Aciduria	Normocytic hypoplastic anemia, Failure to thrive in infancy, Elevated circulating creatine kinase...	OMIM:610377
Angiostrongyliasis	Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ...	ORPHA:74
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i...	OMIM:613493
Pseudohypoparathyroidism Type 1C	Calcinosis, Short stature, Autoimmune antibody positivity, Obesity, Hyperphosphatemia, Conjunctiv...	ORPHA:79444
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria, Megaloblastic anemia	OMIM:261100
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria, Hypoalbuminemia	OMIM:614652
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypopla...	OMIM:275350
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level	OMIM:609529
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Growth delay, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth ab...	ORPHA:89937
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney...	ORPHA:567546
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Gitelman Syndrome	Polyuria, Renal magnesium wasting, Growth delay, Enuresis, Hypokalemia, Hypocalciuria, Increased ...	OMIM:263800
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infection...	OMIM:300635
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Anuria, Increased circulating interleukin 6 concen...	ORPHA:544482
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, ...	OMIM:618394
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis, Lipodystrophy	OMIM:305800
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog...	OMIM:611555
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Skin rash, Short stature, Elevated circulating C-reactive protein concentration, Re...	OMIM:616050
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab...	ORPHA:85443
Uremic Pruritus	Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec...	ORPHA:94059
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Thrombocytopenia, Elevated circulating creatinine concentration, Cholestasis, Ascit...	OMIM:608104
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613500
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Malignant Hyperthermia Of Anesthesia	Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise, Acute ki...	ORPHA:423
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Rhiniti...	ORPHA:230
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Jaundice, Nephroc...	OMIM:613404
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei...	ORPHA:247353
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Inguinal hernia, Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Postnata...	ORPHA:487796
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Immunodeficiency, Common Variable, 2	Hepatomegaly, Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recur...	OMIM:240500
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Severe short stature, Small for gestational age, Short stature, Hyper...	OMIM:127000
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Complement Factor H Deficiency	Chronic kidney disease, Thickened glomerular basement membrane, Hematuria, Depletion of component...	OMIM:609814
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho...	OMIM:618987
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Weight loss, Lymphocy...	ORPHA:514
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:612692
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl...	OMIM:602450
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Hyperkalemia, Growt...	OMIM:610600
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki...	OMIM:300009
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy...	ORPHA:275761
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Failure to thrive in infancy, Eczema, Oligoarthritis, Growth del...	OMIM:619510
Gitelman Syndrome	Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Iron deficiency ...	ORPHA:358
Castleman Disease	Renal insufficiency, Increased circulating interleukin 6 concentration, Generalized lymphadenopat...	ORPHA:160
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Myocarditis, Leukocytosis, Oliguria, Abnormal blood ion concen...	ORPHA:31824
Immunodeficiency, Common Variable, 11	Failure to thrive, Increased circulating IgE level, Decreased proportion of class-switched memory...	OMIM:615767
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Unilateral renal ...	OMIM:614576
Prolidase Deficiency	Hepatomegaly, Eczema, Hyperimidodipeptiduria, Splenomegaly, Recurrent pneumonia, Crusting erythem...	OMIM:170100
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Hepatocellular carcinoma, Hypercalciuria, ...	ORPHA:2088
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Autosomal Dominant Hypocalcemia	Eczema, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hyperm...	ORPHA:428
Diamond-Blackfan Anemia 1	Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Renal hypoplasia, Reticulocytope...	OMIM:105650
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Growth delay, Hypocalcemia, As...	ORPHA:100025
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Chronic oral candidiasis, Eosinophilia, Pneumonia, Recurrent pne...	ORPHA:169160
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Failure to thrive in infa...	OMIM:606367
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s...	OMIM:134600
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Short stature, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Hypocalci...	OMIM:612780
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev...	ORPHA:556037
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev...	ORPHA:556030
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve...	ORPHA:29072
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol...	OMIM:615703
Cryoglobulinemic Vasculitis	Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Viral hepatitis, Circulating immu...	ORPHA:91138
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Growth delay, Increased blood urea nitrogen, Glome...	OMIM:223900
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Immunodeficiency 104	Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Failure to thrive in infancy, Splenomegaly, Nephrotic syndrome, Ascites	ORPHA:834
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a...	ORPHA:35858
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Short stature, Large for gestational ...	OMIM:616026
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Autoimmunity, Skin ...	ORPHA:36412
Immunodeficiency 48	Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Fa...	OMIM:269840
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Ataxia-Pancytopenia Syndrome	Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Dysmetria, Acute myelomonocytic leukemia, ...	OMIM:159550
Lead Poisoning	Decreased HDL cholesterol concentration, Small for gestational age, Skin rash, Chronic kidney dis...	ORPHA:330015
Asthma, Short Stature, And Elevated Iga	Short stature, Increased circulating IgA level	OMIM:208600
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:158061
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Iron deficiency anemia, U...	ORPHA:79408
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatit...	OMIM:616100
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Growth delay, Increased circulating renin level, ...	OMIM:203400
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia, Obesity	OMIM:608320
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay, Aminoaciduria	ORPHA:79238
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Lactica...	OMIM:619386
Primary Biliary Cholangitis	Autoimmunity, Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia...	ORPHA:186
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Short stature, Neutropenia	OMIM:610798
Systemic Sclerosis	Renal insufficiency, Pericarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, El...	ORPHA:90291
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Growth delay, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Immunodeficiency 22	Decreased circulating IgG level, Pericarditis, Autoimmunity, Abscess, Thrombocytopenia, Decreased...	OMIM:615758
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Short stature, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypo...	OMIM:300554
Coccidioidomycosis	Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor...	ORPHA:228123
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat...	ORPHA:562639
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Failure to thrive, Proximal tubulopathy, Polyuria	OMIM:560000
Wilson Disease	Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoaciduria, Hypoalbuminemia...	OMIM:277900
Imerslund-Grasbeck Syndrome 2	Proteinuria, Megaloblastic anemia	OMIM:618882
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph...	OMIM:241530
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb...	OMIM:614748
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia...	OMIM:194080
Rift Valley Fever	Skin rash, Jaundice, Hepatitis, Uveitis, Hematuria, Increased circulating IgG level, Increased ci...	ORPHA:319251
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul...	OMIM:618969
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Increased circulating IgG level, ...	ORPHA:99827
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Decreased circulating antibody level, Hypoalbuminem...	OMIM:618183
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology...	ORPHA:3392
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Alg12-Cdg	Hyponatremia, Hypospadias, Partial absence of specific antibody response to Haemophilus influenza...	ORPHA:79324
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Postnatal growth retardation, Growth delay, Hyperphosphatemia, Hypocalcemic seizur...	ORPHA:93325
Bardet-Biedl Syndrome 17	Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis	OMIM:615994
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Short stature, Increased circulating beta-C-terminal telopeptide concentration...	ORPHA:157215
X-Linked Agammaglobulinemia	Sinusitis, Conjunctivitis, Hypocalcemia, Neutropenia, Chronic otitis media, Recurrent cutaneous a...	ORPHA:47
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha...	OMIM:613095
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Myositis, Sinusitis, Skin rash, T...	OMIM:617591
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos...	ORPHA:99879
Addison Disease	Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Hypercalcemia, Autoimmunit...	ORPHA:85138
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Decreased circulating antibody level	OMIM:604928
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration	OMIM:616239
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex...	OMIM:608836
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Macrocytic anemia, Decreased circulating cortisol level, Hyperca...	ORPHA:199299
Cednik Syndrome	Nephrotic syndrome, Proteinuria, Short stature	ORPHA:66631
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia	ORPHA:75234
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating antibody level, Growth delay, Decreased circulating total IgM, B...	OMIM:614069
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Autoimmunity, Abnormality of the kidney, Increased circulating...	ORPHA:449432
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocytosis, Hepatosplenomegaly...	ORPHA:3260
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ...	ORPHA:84081
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Abnorma...	ORPHA:99826
Hypouricemia, Renal, 1	Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos...	OMIM:220150
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic kidney d...	ORPHA:79147
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei...	ORPHA:449427
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Rhabdomyolysis, Susceptibility To, 1	Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:620235
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	ORPHA:347
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absence of renal cor...	OMIM:120330
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia	OMIM:615401
Omenn Syndrome	Hepatomegaly, Failure to thrive, Autoimmunity, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosi...	ORPHA:39041
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Short stature,...	OMIM:618935
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh...	OMIM:619377
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperaldosteronism, Failure to thrive	OMIM:264350
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentratio...	OMIM:611881
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Laron Syndrome	Hypoplasia of penis, Severe short stature, Osteoarthritis, Truncal obesity, Delayed puberty, Hype...	ORPHA:633
Systemic Capillary Leak Syndrome	Renal insufficiency, Pericarditis, Myocarditis, Leukocytosis, Oliguria, Weight loss, Pancreatitis...	ORPHA:188
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath...	OMIM:301078
Q Fever	Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Lupus anticoagulant, Infecti...	ORPHA:781
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo...	ORPHA:911
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Decreased circulating total IgM, Neutropenia, Intrauterine growth retardati...	ORPHA:2643
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Hyperuri...	ORPHA:261222
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology	OMIM:609886
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Psoriasiform dermat...	ORPHA:293978
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly	OMIM:619175
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Inguinal hernia, Short stature, Portal hypertension, Flexion contracture, He...	ORPHA:440713
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune...	ORPHA:572
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weigh...	ORPHA:139402
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Hyperaldosteronism, Familial, Type Iii	Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	ORPHA:436271
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Cernunnos-Xlf Deficiency	Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, Growth delay, T lymphocytop...	ORPHA:169079
Waldenström Macroglobulinemia	Normocytic anemia, Cryoglobulinemia, Renal insufficiency, Hepatomegaly, Abnormality of neutrophil...	ORPHA:33226
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, H...	OMIM:251900
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos...	ORPHA:90280
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro...	OMIM:619752
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, El...	ORPHA:542323
Melas	Proteinuria, Short stature, Focal segmental glomerulosclerosis, Proximal tubulopathy, Recurrent p...	ORPHA:550
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Wiskott-Aldrich Syndrome	Hemolytic anemia, Prolonged bleeding time, Abnormal eosinophil morphology, Microcytic anemia, Thr...	ORPHA:906
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis m...	ORPHA:275
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi...	OMIM:194380
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Renal cyst, Nephrocalcinosis, Growth delay, 3-Methylglutaconic aciduria, Bon...	ORPHA:445038
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea...	ORPHA:247585
Retinitis Pigmentosa 59	Hepatomegaly, Renal insufficiency, Intrauterine growth retardation, Micropenis, Failure to thrive	OMIM:613861
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Po...	ORPHA:2169
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Elevated circulating C-rea...	ORPHA:54251
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Felty Syndrome	Episcleritis, Hepatomegaly, Recurrent urinary tract infections, Sinusitis, Pericarditis, Autoimmu...	ORPHA:47612
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri...	ORPHA:79233
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Aminoaciduria, Short stature, Hepatomegaly	ORPHA:417
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic otitis...	ORPHA:534
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Short stature, Unilateral renal agenesis, Acute leukemia	ORPHA:281090
Shigellosis	Hyponatremia, Acute colitis, Failure to thrive in infancy, Abscess, Pneumonia, Hemolytic-uremic s...	ORPHA:810
Primary Fanconi Renotubular Syndrome	Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Spondyloenchondrodysplasia	Autoimmune hemolytic anemia, Pancytopenia, Proteinuria, Autoimmunity, Pneumonia, Autoimmune throm...	ORPHA:1855
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Autoimmunity, Eosinophilia, Sinusitis...	ORPHA:183
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ...	ORPHA:158684
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Short stature, Postnata...	OMIM:619127
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Methylmalonic aciduria, Hyperhomocyst...	OMIM:614857
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Short stature, Urinary incontinence, Iron deficiency ane...	OMIM:618885
Smith-Magenis Syndrome	Hypertriglyceridemia, Short stature, Abnormal renal morphology, Increased body weight, Abnormalit...	OMIM:182290
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Tick-Borne Encephalitis	Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Increased circul...	ORPHA:297
Whim Syndrome 1	Decreased circulating antibody level, Decreased circulating IgG level, Bronchiectasis, Neutropenia	OMIM:193670
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Cr...	OMIM:123550
Idiopathic Chronic Eosinophilic Pneumonia	Autoimmunity, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circ...	ORPHA:2902
Agammaglobulinemia, X-Linked	T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ...	OMIM:300755
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Skin rash, Reduced natural killer...	OMIM:603553
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia, Myoglobinur...	OMIM:255125
Propionic Acidemia	Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Eczema, Short stature, Thr...	OMIM:606054
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Lysinuric Protein Intolerance	Hepatomegaly, Failure to thrive, Hypolysinemia, Short stature, Increased circulating ferritin con...	OMIM:222700
Alkaptonuria	Arthritis, Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate	OMIM:203500
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	OMIM:220110
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:609049
Lessel-Kubisch Syndrome	Renal insufficiency, Short stature, Renal hypoplasia	OMIM:618681
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Growth delay, Gl...	OMIM:615605
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Renal ...	ORPHA:324525
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Short stature, Overweight, Flexion contracture, ...	OMIM:616222
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr...	OMIM:616307
Helix Syndrome	Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria	OMIM:617671
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Sp...	OMIM:603903
Glycogen Storage Disease Xi	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Thrombocytopenia 1	Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet...	OMIM:313900
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Short stature, Renal hypoplasia/aplasia, Abno...	ORPHA:819
Apparent Mineralocorticoid Excess	Renal insufficiency, Left ventricular hypertrophy, Short stature, Abnormal urine sodium concentra...	ORPHA:320
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Short stature, Splenomegaly, Uvei...	ORPHA:575
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaund...	OMIM:608885
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Megalo...	ORPHA:79282
Mccune-Albright Syndrome	Hyperphosphaturia, Pancytopenia, Hepatitis, Cholestasis, Hepatocellular adenoma, Renal phosphate ...	ORPHA:562
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Impa...	ORPHA:79329
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Small for gestational age, Short stature, Thr...	OMIM:260400
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato...	ORPHA:101330
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Rec...	OMIM:154230
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Lassa Fever	Increased circulating IgM level, Jaundice, Conjunctivitis, Oliguria	ORPHA:99824
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Immunodeficiency 46	Chronic oral candidiasis, Intermittent thrombocytopenia, Decreased circulating antibody level, Co...	OMIM:616740
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce...	OMIM:617638
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Hyperkalemia, Failure to ...	OMIM:614736
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Postnatal growth retardation, Obesity, Recurrent otitis media, Hypercholesterolemia, Intrauterine...	ORPHA:254531
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema, Increased circulating IgE level, ...	OMIM:618282
Pseudo-Torch Syndrome 1	Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Umbilical hernia, Failure to thrive, T...	OMIM:251290
Avian Influenza	Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive ...	ORPHA:454836
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Inguinal hernia, Membranoproliferative glomerulonephritis, Failure to thrive, Micro...	OMIM:619525
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Porphyria Variegata	Hyponatremia, Neurogenic bladder, Scarring, Abnormal circulating porphyrin concentration, Chronic...	ORPHA:79473
Hypophosphatemic Rickets, Autosomal Dominant	Renal phosphate wasting, Hypophosphatemic rickets, Short stature, Hypophosphatemia	OMIM:193100
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia	OMIM:615214
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia	OMIM:612286
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule...	ORPHA:839
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,...	OMIM:620005
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Reduced subcutaneous adipose tissue, Renal insufficiency, M...	OMIM:137940
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Hy...	ORPHA:172
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis	ORPHA:71493
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
Hermansky-Pudlak Syndrome 8	Impaired platelet aggregation	OMIM:614077
Hypocalcemic Vitamin D-Resistant Rickets	Short stature, Nephrolithiasis, Abnormal adipose tissue morphology, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Laurence-Moon Syndrome	Renal insufficiency, Hypoplasia of penis, Short stature, Congenital hepatic fibrosis, Obesity, Di...	ORPHA:2377
Bardet-Biedl Syndrome 19	Renal insufficiency, Renal hypoplasia, Obesity, Hepatic steatosis, Hydronephrosis	OMIM:615996
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Eczema, Splenomegaly, Leukocyto...	OMIM:615895
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Recurrent urinary tract infections, Psoriasiform dermatitis, Decreased ...	ORPHA:221139
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Bloom Syndrome	Adipose tissue loss, Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion...	ORPHA:125
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto...	OMIM:598500
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease...	OMIM:166300
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia	OMIM:612287
Griscelli Syndrome	Hepatomegaly, Short stature, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decre...	ORPHA:381
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Familial Hypoaldosteronism	Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul...	ORPHA:427
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Increased circulating IgA level, Peritonitis, Lymphadenopathy, Growth delay, Arthri...	ORPHA:343
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbil...	ORPHA:79303
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal insufficiency, Hypoplasia of penis, Pancytopenia, Short stature, Renal hypoplasia, Umbilica...	ORPHA:85321
Japanese Encephalitis	Hyponatremia, Neutrophilia, Elbow flexion contracture, Increased circulating IgM level, Increased...	ORPHA:79139
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a...	OMIM:121300
Liddle Syndrome	Nephropathy, Renal insufficiency, Hypokalemia	ORPHA:526
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula...	OMIM:617765
Acquired Ichthyosis	Renal insufficiency, Recurrent skin infections, Autoimmunity	ORPHA:454
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,...	OMIM:611762
Hypophosphatemic Rickets, X-Linked Dominant	Short stature, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizat...	OMIM:307800
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper...	ORPHA:79124
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt...	ORPHA:167
Immunoneurologic Disorder, X-Linked	Decreased circulating IgG2 level, Functional abnormality of the bladder, Small for gestational age	OMIM:300076
Hyperinsulinemic Hypoglycemia, Familial, 8	Short stature, Hyperammonemia, Growth delay, Hypercholesterolemia, Increased C-peptide level	OMIM:620211
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Hepatoportal Sclerosis	Anticardiolipin IgG antibody positivity, Portal hypertension, Hypersplenism, Thrombocytopenia, Sp...	ORPHA:64743
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Short stature, Splenomegaly, Chronic kidney disease, Obesity, Cholestasis, Hepatic ...	OMIM:615630
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Glucocort...	ORPHA:171876
Snakebite Envenomation	Hyponatremia, Acute kidney injury, Thrombocytopenia	ORPHA:449285
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin...	ORPHA:3467
Senior-Loken Syndrome	Short stature, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney diseas...	ORPHA:3156
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Autoimmunity, Elevated circu...	ORPHA:900
Coach Syndrome 2	Congenital hepatic fibrosis, Elevated circulating creatinine concentration, Portal fibrosis, Hepa...	OMIM:619111
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,...	ORPHA:3226
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea...	OMIM:619705
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Decreased circulating cortisol level, Autoimmun...	ORPHA:361
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Hepatic fibrosis, Failure to thr...	OMIM:614480
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo...	ORPHA:411629
Cinca Syndrome	Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve...	OMIM:607115
Metaphyseal Chondrodysplasia, Jansen Type	Hip contracture, Hyperphosphaturia, Severe short stature, Hypercalcemia, Hypercalciuria, Knee fle...	OMIM:156400
Lujo Hemorrhagic Fever	Lymphopenia, Renal insufficiency, Maculopapular exanthema, Skin rash, Elevated circulating C-reac...	ORPHA:319213
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Alagille Syndrome 1	Duplicated collecting system, Hypertriglyceridemia, Hepatocellular carcinoma, Multiple small medu...	OMIM:118450
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Sialidosis Type 2	Hepatomegaly, Inguinal hernia, Short stature, Splenomegaly, Flexion contracture, Umbilical hernia...	ORPHA:87876
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Ogden Syndrome	Global glomerulosclerosis, Inguinal hernia, Short stature, Eczema, Cardiomegaly, Postnatal growth...	OMIM:300855
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Hyperammonemia, ...	OMIM:251110
Xq28 (MECP2) duplication	Failure to thrive, Functional abnormality of the bladder, Decreased circulating IgA level	DECIPHER:45
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Growth delay, Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Failu...	OMIM:264700
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Large for gestational age, Thrombocytopenia, Aminoaciduria, Bone marrow hypocellularit...	OMIM:614520
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Proteinuria, Splenomegaly, Hematuria, Anemia, Growth delay, Increased...	ORPHA:77261
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:613313
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	ORPHA:2364
Alg1-Cdg	Nephrotic syndrome, Renal insufficiency, Hypoalbuminemia, Abnormality of the kidney	ORPHA:79327
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hyperprolinemia, Hypergly...	ORPHA:79101
Fabry Disease	Renal insufficiency, Proteinuria, Urinary mulberry cells, Lipiduria, Delayed puberty, Left ventri...	OMIM:301500
Cogan Syndrome	Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam...	ORPHA:1467
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Small for gestational age, Skin rash, Short s...	OMIM:277380
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Elevated circulating C-reactive protein concentration, Leukocytosis, Uveitis, Arthriti...	OMIM:120100
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Skin rash, Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic acid...	ORPHA:79284
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Short stature, Hematuria, Nephrotic syndrome	OMIM:161200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Sinusitis, Short stature, Elevated circulating alph...	OMIM:208900
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Nephrocalcinosis, Growth delay, Hypokalemia, Distal renal tubular acidosis, Failu...	OMIM:602722
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Short stature, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurren...	OMIM:266265
Analbuminemia	Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr...	OMIM:616000
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
9Q31.1Q31.3 Microdeletion Syndrome	Overweight, Hypercholesterolemia, Short stature, Renovascular hypertension	ORPHA:401923
Jeune Syndrome	Renal insufficiency, Short stature, Abnormality of the liver, Nephronophthisis, Nephropathy	ORPHA:474
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Weight loss, Systemic lupus e...	ORPHA:411593
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Short stature, Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-w...	OMIM:604278
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ...	OMIM:251100
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Hypospadias, Short stature, Microcytic anemia, Flexion contracture, Failure to thrive, HbH hemogl...	ORPHA:98791
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Neutrophilia, Eosinophilia, Pu...	ORPHA:293173
Papa Syndrome	Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Lymphadenopathy, Arthritis...	ORPHA:69126
Sneddon Syndrome	Lymphopenia, Atrophic scars, Antiphospholipid antibody positivity, Decreased circulating total IgM	OMIM:182410
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Mild postnatal growth...	OMIM:224120
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration	OMIM:160010
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Short stature, Postnatal growth retardation, Obesity, Truncal obesity,...	ORPHA:96184
Linear Verrucous Nevus Syndrome	Abnormality of the kidney, Hypophosphatemia	ORPHA:2611
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Autoimmunity, Portal hypertension, Shor...	OMIM:613385
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentrati...	ORPHA:263455
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome...	OMIM:251880
Orthostatic Hypotension 1	Hypomagnesemia, Nocturia, Increased blood urea nitrogen	OMIM:223360
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia...	ORPHA:411536
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Atrophic gastritis, Ch...	OMIM:615846
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent...	OMIM:616860
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Acrorenal Syndrome	Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia	ORPHA:971
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Cinca Syndrome	Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-rea...	ORPHA:1451
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilia, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otiti...	OMIM:618523
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Failure to thrive, Reticulocytosis, Hepatomega...	OMIM:618278
Tyrosinemia Type 1	Splenomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop...	OMIM:609583
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A...	ORPHA:284
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio...	OMIM:618528
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Increased bod...	ORPHA:244242
Acute Interstitial Pneumonia	Reduced hematocrit	ORPHA:79126
Hypocalcemic Vitamin D-Dependent Rickets	Short stature, Postnatal growth retardation, Generalized aminoaciduria, Hypocalcemia, Hypophospha...	ORPHA:289157
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Decreased circulating cortisol level, Anemia, Decreased urinary potassium	OMIM:611489
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Xfe Progeroid Syndrome	Renal insufficiency, Severe short stature, Proteinuria, Cachexia, Absence of subcutaneous fat, Co...	OMIM:610965
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Left ventricular hypertrophy, Elevated circulating ...	OMIM:242840
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Skin rash, Elevated circul...	ORPHA:829
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt...	ORPHA:284426
Smith-Kingsmore Syndrome	Rhizomelia, Large for gestational age, Umbilical hernia, Thrombocytopenia, Decreased circulating ...	OMIM:616638
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l...	OMIM:619381
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Failure to thrive, Short stature, Functional abnormality of the...	ORPHA:223
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Hypermagnesemia, Growth dela...	ORPHA:469
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic...	OMIM:615382
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Autoimmunity, Increased circulating ferritin concentration, S...	OMIM:618398
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency	ORPHA:254857
Teratoma, Pineal	Abnormal abdomen morphology, Polyuria	OMIM:273120
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise...	ORPHA:368
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas...	OMIM:614878
3-Methylglutaconic Aciduria, Type V	Hypospadias, Postnatal growth retardation, Microvesicular hepatic steatosis, Normochromic microcy...	OMIM:610198
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Small for gestational age, Hypospadias, Rhizomelia, Recurrent pn...	OMIM:607143
Hereditary Orotic Aciduria	Orotic acid crystalluria, Impaired T cell function, Splenomegaly, Abnormality of the ureter, Amin...	ORPHA:30
Glycogen Storage Disease V	Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:232600
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Proteinuria, Short stature, Elevated circulating C-rea...	ORPHA:355
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,...	OMIM:615122
Acquired Aneurysmal Subarachnoid Hemorrhage	Left ventricular hypertrophy, Hypercholesterolemia, Leukocytosis	ORPHA:90065
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis, ...	OMIM:204690
Igg4-Related Ophthalmic Disease	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Abnormality of the kidney, Antinuclear...	ORPHA:449563
Amyloidosis, Finnish Type	Nephrotic syndrome, Renal insufficiency, Abnormal abdomen morphology	OMIM:105120
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steat...	OMIM:613070
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Nephrolithiasis, ...	ORPHA:143
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Failure to thrive, Elevated circulating creatine kinase c...	OMIM:309000
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Jaundice, Bicarbonaturia, Proximal rena...	OMIM:229600
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple...	OMIM:615631
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Alstrom Syndrome	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Chronic activ...	OMIM:203800
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H...	ORPHA:35710
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia	ORPHA:3222
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Weight loss, Hematuria, Leukopenia, Lymphadenopathy...	ORPHA:520
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:606721
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Cirrhosis, Hypercholester...	ORPHA:528
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T...	ORPHA:90068
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Vitamin D-Dependent Rickets, Type 3	Growth delay, Hypocalcemia, Hypophosphatemia	OMIM:619073
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst	OMIM:611773
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Postnatal growth retardation, Bronchiectasis,...	OMIM:210900
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Hyperkalemia...	ORPHA:90791
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Chronic decreased circulating total IgG	OMIM:613495
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Eosinophilia, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutane...	OMIM:147060
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Elliptocytosis, Microscopic hematuria	ORPHA:86818
Immunodeficiency 61	Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Decreased circulating total IgM, A...	OMIM:300310
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Hyperuricemia, Uric acid nep...	ORPHA:411543
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Portal hypertension, Hypersplenism, Thrombocytopenia, Leuk...	ORPHA:98850
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Hyperlipidemia, Hematuria, Nephr...	ORPHA:324
Ethylene Glycol Poisoning	Renal insufficiency, Gastritis, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dy...	ORPHA:31826
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly, Abnormality of iron homeostasis	ORPHA:75563
Cold Agglutinin Disease	Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Autoimmunity, Splenomegaly, Lymphadenopathy	ORPHA:56425
Scrub Typhus	Anterior uveitis, Renal insufficiency, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Inf...	ORPHA:83317
X-Linked Immunoneurologic Disorder	Decreased circulating IgG2 level, Functional abnormality of the bladder	ORPHA:2571
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T...	ORPHA:158048
Secondary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating IgG1 level, Autoimmunity, Reduced circulating transferrin conc...	ORPHA:90363
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Decreased circu...	OMIM:605309
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Ddost-Cdg	Lipodystrophy, Nephrotic range proteinuria, Short stature, Failure to thrive, Hepatic steatosis	ORPHA:300536
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Hypercalcemia, Small for gestational age, Short stature, Splenomega...	OMIM:618440
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Allergic rhinitis, Leukocyto...	ORPHA:2070
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin...	ORPHA:231226
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Autoimmunity, Splenomegaly, ...	OMIM:615387
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hyperammonemia	ORPHA:664
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Compl...	OMIM:557000
Dubowitz Syndrome	Inguinal hernia, Aplastic anemia, Hypospadias, Eczema, Short stature, Postnatal growth retardatio...	OMIM:223370
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Growth delay, Decreased circulating total IgM, H...	OMIM:612301
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Autoimmunity, Abnormality of...	ORPHA:79086
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentra...	OMIM:613327
Pyomyositis	Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Leukocytosis, Weight loss	ORPHA:764
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Glomerulopathy, Hepatomegaly, Hypertriglyceridemia,...	ORPHA:2348
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub...	OMIM:610205
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Sho...	ORPHA:96180
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Morgagni-Stewart-Morel Syndrome	Acne, Osteoarthritis, Obesity, Hyperuricemia, Hypercholesterolemia	ORPHA:77296
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated circulating C-reactive protein concentration, Abnormal lymphocyte pr...	OMIM:619573
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl...	OMIM:618852
Stevens-Johnson Syndrome	Renal insufficiency, Dysuria, Abnormality of neutrophils, Abnormality of the urethra, Thrombocyto...	ORPHA:36426
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Proportionate short stat...	ORPHA:71212
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an...	ORPHA:90035
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Nephrolithiasis, ...	ORPHA:99880
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas	OMIM:134610
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal...	ORPHA:93110
Aredyld Syndrome	Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Short stature, Splenomega...	ORPHA:1133
Livedoid Vasculopathy	Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,...	ORPHA:542643
Pseudohypoaldosteronism Type 2	Growth delay, Hyperkalemia, Abnormal dental enamel morphology, Short stature	ORPHA:757
Toxic Epidermal Necrolysis	Renal insufficiency, Dysuria, Abnormality of the urethra, Thrombocytopenia, Weight loss, Conjunct...	ORPHA:537
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscu...	ORPHA:231214
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Incr...	ORPHA:508533
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadeno...	ORPHA:2686
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Growth delay, Aminoac...	OMIM:617913
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Camptodactyly of finger, Cachexia	ORPHA:2774
Renal Nutcracker Syndrome	Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia	ORPHA:71273
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Abnormal urine potassium ...	ORPHA:168558
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal...	OMIM:208540
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn...	ORPHA:288
Sarcoidosis	Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hemo...	ORPHA:797
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Abnormal urine potassium ...	ORPHA:289548
Aspergillosis	Sinusitis, Osteomyelitis, Eosinophilia, Abnormality of the kidney, Pneumonia, Keratitis, Increase...	ORPHA:1163
Martin-Probst Syndrome	Renal insufficiency, Pancytopenia, Proteinuria, Short stature, Chordee, Umbilical hernia, Micropenis	OMIM:300519
Urachal Cyst	Abdominal mass, Dysuria, Elevated circulating C-reactive protein concentration, Pyuria, Abscess, ...	ORPHA:488
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes...	ORPHA:79102
Immunodeficiency 54	Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Intraut...	OMIM:609981
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Short stature, Camptodactyly of finger, Increased circulating IgE level, Abn...	ORPHA:3409
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy	ORPHA:330001
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps...	ORPHA:183675
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia, Chondro...	OMIM:154020
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Enamel hypomineralization, B...	ORPHA:47159
Riddle Syndrome	Generalized lymphadenopathy, Short stature, Pneumonia, Elevated circulating alpha-fetoprotein con...	ORPHA:420741
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Failure to thrive	OMIM:177735
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Rhizomelia, Short stature, Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia	OMIM:617661
Cornelia De Lange Syndrome 1	Inguinal hernia, Hypospadias, Proteinuria, Congenital diaphragmatic hernia, Ectopic kidney, Hiatu...	OMIM:122470
Congenital Erythropoietic Porphyria	Anisocytosis, Abnormal circulating porphyrin concentration, Scarring alopecia of scalp, Red-brown...	ORPHA:79277
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter...	ORPHA:3243
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Zttk Syndrome	Absent gallbladder, Short stature, Polyuria, Unilateral renal agenesis, Flexion contracture, Hors...	OMIM:617140
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia, Fail...	OMIM:619046
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Pancytopenia, Renal agenesis, Small for gestational age, Short stat...	OMIM:227645
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Short stature, Splenomegaly, Decreased body weight, Thrombocytopenia	OMIM:231000
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Short stature, C...	OMIM:208500
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:228305
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Flexion contracture, Hyperkalem...	ORPHA:682
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Fetal ascites, Thrombocytopenia, Leukocytosis, Myocard...	ORPHA:292
Cholera	Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo...	ORPHA:173
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Short stature, Hyperechogenic panc...	OMIM:617052
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morphology, Hepatos...	OMIM:612840
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, E...	OMIM:214900
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s...	ORPHA:79500
Digeorge Syndrome	Impaired T cell function, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hep...	OMIM:188400
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St...	OMIM:308940
Netherton Syndrome	Failure to thrive, Recurrent skin infections, Eczema, Allergic rhinitis, Increased circulating Ig...	OMIM:256500
Hypophosphatemic Rickets And Hyperparathyroidism	Short stature, Hypercalcemia, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets	OMIM:612089
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Dyskeratosis Congenita, Digenic	Failure to thrive, Short stature, Decreased circulating total IgM, Intrauterine growth retardatio...	OMIM:620040
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, ...	ORPHA:159
Bartter Syndrome Type 4	Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary...	ORPHA:89938
Hyperuricemia, Hprt-Related	Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra	OMIM:300323
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kin...	OMIM:201475
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Conjugat...	OMIM:619662
Oncogenic Osteomalacia	Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Pancytopenia, Renal agenesis, Small for gestational age, Short stat...	OMIM:227650
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Myositis, Pericarditis, Autoimmunity, Skin rash, Gastritis, Splen...	ORPHA:809
Hemochromatosis, Type 3	Lymphopenia, Anemia, Neutropenia	OMIM:604250
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Short stat...	OMIM:600901
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Coach Syndrome 1	Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Splenomegaly, Multiple small medull...	OMIM:216360
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Short stature, Leukopenia, Hepatic fibrosis, B...	OMIM:613989
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, S...	ORPHA:289176
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	ORPHA:412
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Functional abnormality of the bladder, T lymphocytopenia, Infectious encephalitis, Short stature,...	ORPHA:391487
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Renal insufficiency, Short stature, Hypocalcemia	ORPHA:1563
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Short stature, Elevated amniotic fluid alpha-fetoprotein, Prolonged neonatal jaundice, Severe fai...	ORPHA:423479
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Small for gestational age, Scarri...	ORPHA:99843
Erdheim-Chester Disease	Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Retroperitoneal fibrosis, Weight loss, Xa...	ORPHA:35687
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Growth delay, Failure to thrive, Hypocalcemia, Hypophosphatemia	OMIM:600081
Low Phospholipid-Associated Cholelithiasis	Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, Obesity, Biliary cirrhosis, Neo...	ORPHA:69663
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Inguinal hernia, Portal hyperten...	ORPHA:1454
Microscopic Polyangiitis	Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Au...	ORPHA:727
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia	OMIM:612527
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Renal hypoplasia, Short stature	ORPHA:1307
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss	ORPHA:1302
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Obesity, Nephrocalcinosis, Decre...	ORPHA:369837
Refsum Disease	Splenomegaly, Renal insufficiency	ORPHA:773
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria, Short stature	OMIM:616901
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:98895
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Postnatal growth retardation, Elevated amniotic fluid alpha-fet...	ORPHA:96179
Hereditary Methemoglobinemia	Methemoglobinemia, Small for gestational age	ORPHA:621
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Short stature, Splenomegaly, Growth delay, Reduced renal corticomedullary different...	OMIM:618541
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Intrahepatic bile duct dilatati...	OMIM:619534
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Maculopapular exanthema, Skin rash...	ORPHA:398124
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Immunoglobulin A Deficiency 1	Autoimmunity, Decreased circulating IgA level	OMIM:137100
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, System...	ORPHA:90033
Pneumocystosis	Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Inc...	ORPHA:723
Niemann-Pick Disease, Type A	Hepatomegaly, Short stature, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenop...	OMIM:257200
Glycogen Storage Disease Ixb	Hepatomegaly, Short stature, Splenomegaly, Growth delay, Hyperuricemia, Increased hepatic glycoge...	OMIM:261750
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Inguinal hernia, Postnatal growth retardation, Splenomegaly, Pancreatic lymphangiec...	ORPHA:1655
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor...	ORPHA:98848
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Small for gestational age, Conjugated hyperbilirubinemia, Intrahepa...	OMIM:617093
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Megabladder, Congenital	Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease	OMIM:618719
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, He...	OMIM:248370
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Cockayne Syndrome	Urinary incontinence, Congenital contracture, Hepatomegaly, Renal hypoplasia, Nephrotic syndrome,...	ORPHA:191
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Small for gestational age, Short stature, Urolithiasis, Gout, H...	OMIM:300661
Netherton Syndrome	Skin rash, Eczema, Short stature, Ectopic kidney, Increased circulating IgE level, Decreased circ...	ORPHA:634
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c...	OMIM:619767
Noonan Syndrome	Abnormality of the spleen, Abnormal platelet function, Cryptorchidism	ORPHA:648
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Mogs-Cdg	Hepatomegaly, Cardiomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased c...	ORPHA:79330
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Cholestasis, Tubulointers...	OMIM:615862
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ...	OMIM:241150
Donnai-Barrow Syndrome	Omphalocele, Umbilical hernia, Proteinuria, Congenital diaphragmatic hernia	ORPHA:2143
Familial Mediterranean Fever	Pericarditis, Proteinuria, Skin rash, Orchitis, Splenomegaly, Peritonitis, Osteoarthritis, Lympha...	ORPHA:342
Adult-Onset Nemaline Myopathy	Flexion contracture, Paraproteinemia, Mildly elevated creatine kinase	ORPHA:171442
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia	OMIM:615399
Hennekam Syndrome	Mild postnatal growth retardation, Camptodactyly of finger, Ectopic kidney, Splenomegaly, Pulmona...	ORPHA:2136
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Bilateral fetal pyelectasis, Incr...	OMIM:606812
East Syndrome	Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased...	ORPHA:199343
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Short stature, Abnormality of the kidney...	ORPHA:847
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Vitamin D-Dependent Rickets, Type 2A	Growth delay, Hypophosphatemia, Enamel hypoplasia, Failure to thrive, Hypocalcemic seizures	OMIM:277440
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:151660
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Highly elevated creatine kinase, Exercise-induced myoglobinuria	ORPHA:352479
Peeling Skin Syndrome 1	Increased circulating IgE level, Short stature, Eosinophilia, Erythroderma	OMIM:270300
Wolman Disease	Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Growth delay, Steatorrhea, Ascites,...	ORPHA:75233
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Hepatic ...	OMIM:614922
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, J...	ORPHA:93111
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia	OMIM:612300
Glycogen Storage Disease Ixd	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria	OMIM:300559
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Abnormality of T cell physiology, Psoriasiform dermatitis, Unilateral renal ...	ORPHA:2237
Herpes Simplex Virus Encephalitis	Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration	ORPHA:1930
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Short stature	ORPHA:2715
X-Linked Hypophosphatemia	Odontodysplasia, Disproportionate short stature, Enthesitis, Renal phosphate wasting, Hypophospha...	ORPHA:89936
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Decreased circulating antibo...	OMIM:618042
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Meningococcal Meningitis	Skin rash, Renal insufficiency, Infectious encephalitis, Elevated circulating C-reactive protein ...	ORPHA:33475
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Thrombocytopenia, Leukoc...	OMIM:259720
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Hypocalcemia, Failure to thrive,...	OMIM:259700
Dyschondrosteosis-Nephritis Syndrome	Proteinuria, Short stature, Hematuria, Mesomelic short stature, Nephropathy, Intrauterine growth ...	ORPHA:1765
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Ly...	OMIM:619991
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Cystinuria	Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis	ORPHA:214
Opsismodysplasia	Renal phosphate wasting, Rhizomelia, Disproportionate short-limb short stature, Hypophosphatemia	OMIM:258480
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea...	OMIM:620300
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia	OMIM:175500
Bardet-Biedl Syndrome 9	Truncal obesity, Renal insufficiency, Obesity	OMIM:615986
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ...	ORPHA:100026
Isolated Thyroid-Stimulating Hormone Deficiency	Failure to thrive, Autoimmune antibody positivity, Growth delay, Umbilical hernia, Prolonged neon...	ORPHA:90674
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620126
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Hiatus hernia, Panc...	OMIM:610199
Liddle Syndrome 1	Renal insufficiency, Hypokalemia, Decreased circulating renin level	OMIM:177200
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Hepatomegaly, Renal insufficiency, Severe short stature, Pro...	OMIM:133540
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620125
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, An...	ORPHA:64744
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasi...	OMIM:235255
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Acute Intermittent Porphyria	Dark urine, Hyponatremia, Renal insufficiency, Dysuria, Urinary incontinence, Porphyrinuria, Incr...	ORPHA:79276
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Vici Syndrome	Short stature, Decreased circulating IgG2 level, Ureteral atresia, Renal tubular acidosis, Decrea...	ORPHA:1493
Rasmussen Subacute Encephalitis	Antinuclear antibody positivity, Decreased circulating total IgA, Autoimmunity, Anti-dsDNA antibo...	ORPHA:1929
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactiv...	OMIM:612852
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hema...	ORPHA:1018
Raine Syndrome	Hydroureter, Short stature, Hypophosphatemia, Arthrogryposis multiplex congenita, Enamel hypoplas...	OMIM:259775
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Increased serum bile acid concentration, Intrahepatic cholestasis, Hyperbilirubinemia, Mild prote...	OMIM:619685
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst	OMIM:617478
Rhyns Syndrome	Renal insufficiency, Chronic kidney disease, Short stature, Nephronophthisis	OMIM:602152
Bardet-Biedl Syndrome 20	Proteinuria, Obesity, Hypercholesterolemia, Micropenis, Pancreatitis	OMIM:619471
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Renal insufficiency, Hepatomegaly, Proteinu...	OMIM:216400
Arteriosclerosis, Severe Juvenile	Chronic kidney disease, Short stature, Anemia, Delayed puberty	OMIM:208060
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod...	ORPHA:319218
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Growth delay, Hypocalcemia, Otitis media, Hypophosph...	ORPHA:667
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Hypospadias, Postnatal growth retardation, Reduced alpha/beta synthesis ratio, Hy...	OMIM:301040
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Galloway-Mowat Syndrome	Proteinuria, Camptodactyly of finger, Short stature, Hiatus hernia, Nephrotic syndrome, Nephropat...	ORPHA:2065
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Red urine, Corneal scarrin...	OMIM:263700
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Leukocytosis, Peritonitis, Neutropenia, Ascites, Thrombo...	ORPHA:391673
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:119
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Elevated circulating creatine kinase concentration, Ankle flexion contracture, Flexion contractur...	ORPHA:206549
Wilson Disease	Hepatomegaly, Splenomegaly, Jaundice, Increased body weight, Hepatitis, Weight loss, Anemia, Arth...	ORPHA:905
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasi...	OMIM:601847
Hermansky-Pudlak Syndrome	Renal insufficiency, Abnormality of thrombocytes, Abnormal dental enamel morphology, Weight loss,...	ORPHA:79430
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce...	OMIM:614204
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypospadias, Decreased circulating IgA level, Large for gestational age	ORPHA:457485
Isolated Biliary Atresia	Hepatomegaly, Small for gestational age, Dark yellow urine, Conjugated hyperbilirubinemia, Spleno...	ORPHA:30391
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Superficial dermal perivascular inflamma...	ORPHA:83617
Renal Tubular Acidosis Iii	Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Rhizomelic Limb Shortening With Dysmorphic Features	Stage 1 chronic kidney disease, Rhizomelia, Obesity	OMIM:618821
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma, Abnorma...	ORPHA:3162
Diamond-Blackfan Anemia 6	Macrocytic anemia, Persistence of hemoglobin F, Growth delay, Increased mean corpuscular volume, ...	OMIM:612561
Pyoderma Gangrenosum	Myositis, Pustule, Atrophic scars, Inflammation of the large intestine, Increased circulating ant...	ORPHA:48104
Agel Amyloidosis	Keratoconjunctivitis sicca, Abnormal spleen morphology, Proteinuria, Stage 5 chronic kidney disease	ORPHA:85448
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Poikiloderma With Neutropenia	Skin rash, Elevated circulating creatine kinase concentration, Short stature, Splenomegaly, Recur...	OMIM:604173
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Cholestasis, Obesity, Tubulointerstitial nephritis, Hepatic fibro...	OMIM:616629
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171420
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Kaposiform Lymphangiomatosis	Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of the lymphatic system, Hepatosple...	ORPHA:464329
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Contracture of the distal interphala...	ORPHA:2614
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Cranioectodermal Dysplasia 2	Hepatomegaly, Renal insufficiency, Inguinal hernia, Short stature, Cholangitis, Rhizomelia, Splen...	OMIM:613610
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Short stature, Elevated circulating creatine kinase concentrati...	OMIM:608779
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Hashimoto thyroiditis, Thrombocytopenia	ORPHA:83601
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepa...	OMIM:606003
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Hydroureter, Hypo...	ORPHA:84
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Albuminuria, Aminoaciduria, Prolonged...	OMIM:214100
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul...	OMIM:146255
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Anti-thyroid peroxidase antibody positivity, Recurrent pneumonia, Decrea...	OMIM:615577
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr...	ORPHA:158029
Kleefstra Syndrome Due To 9Q34 Microdeletion	Renal insufficiency, Hypoplasia of penis, Femoral hernia, Inguinal hernia, Obesity, Growth delay,...	ORPHA:96147
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Prolonged neonatal j...	ORPHA:199296
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Short stature, Bronchiectasis	OMIM:615139
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia, Scrotal hypospadias, Micropenis, Hypospadias	OMIM:250790
Kawasaki Disease	Pericarditis, Proteinuria, Skin rash, Myocarditis, Leukocytosis, Cervical lymphadenopathy, Jaundi...	ORPHA:2331
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho...	OMIM:607765
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimmune thrombocytopenia, Splenomeg...	ORPHA:1572
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension	OMIM:616589
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Leukocytosis, Flexion contracture, Renal hypoplasia, Abdominal obesity, Azotemia, ...	OMIM:619321
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentration, Leukocytosis, Acu...	ORPHA:36238
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Infectious encephalitis, ...	ORPHA:73263
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Thr...	OMIM:214500
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Failure to thrive, Hepatomegaly, Short stature, Cholangitis, Rhizomelia, Pa...	OMIM:266920
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	ORPHA:88
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Conjugated hyperbil...	OMIM:211600
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Eosinophilia	ORPHA:99965
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Growth delay, Anemia	OMIM:611490
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Elevated circulating C-rea...	ORPHA:85414
Degcags Syndrome	Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Hepatomegaly, Hypospadias, Hiatus...	OMIM:619488
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea...	OMIM:615607
Listeriosis	Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec...	ORPHA:533
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Decreased circulating cortisol level, Acne, Short stature, Renal salt wasting, Long...	ORPHA:90794
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormal peritoneum morphology, Abnormality of...	ORPHA:1764
Lymphedema-Hypoparathyroidism Syndrome	Nephropathy, Renal insufficiency, Pulmonary lymphangiectasia, Short stature	OMIM:247410
Mucopolysaccharidosis Type 6	Sinusitis, Splenomegaly, Disproportionate short-trunk short stature, Mucopolysacchariduria, Herni...	ORPHA:583
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Short stature, Chronic otitis media, Obesi...	ORPHA:261494
Adrenocortical Carcinoma	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:1501
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Growth delay, Methemoglobinemia, Polycythemia	OMIM:250800
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Skin rash, Elevated circulating C-reactive protein con...	ORPHA:50918
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Hurler-Scheie Syndrome	Hepatomegaly, Inguinal hernia, Short stature, Camptodactyly of finger, Heparan sulfate excretion ...	OMIM:607015
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Otitis media, Micr...	ORPHA:64
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Inguinal hernia, Severe short stature, Short stature, Heparan sulfate excretion in ...	OMIM:309900
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Small for gestational age, Conjugated...	OMIM:614866
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Meckel Syndrome, Type 7	Inguinal hernia, Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pa...	OMIM:267010
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi...	OMIM:608612
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Hypospadias, Obesity, Nephropathy, Nephroblastoma	OMIM:194072
Variant Abeta2M Amyloidosis	Hepatic amyloidosis, Chronic kidney disease, Renal amyloidosis	ORPHA:314652
Lamellar Ichthyosis	Chronic otitis media, Renal insufficiency, Short stature, Erythroderma	ORPHA:313
Anterior Cutaneous Nerve Entrapment Syndrome	Leukocytosis, Recurrent urinary tract infections, Inguinal hernia, Decreased body weight	ORPHA:51890
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Ohdo Syndrome	Proteinuria, Short stature	OMIM:249620
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo...	OMIM:269700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Achilles tendon contracture, Elevated circulating creatine kinase concentration, Exercise-induced...	OMIM:607155
Inflammatory Pseudotumor Of The Liver	Elevated circulating alpha-fetoprotein concentration, Increased hepatitis B virus antibody level,...	ORPHA:90003
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Hyperamm...	OMIM:253260
Holoprosencephaly	Hyponatremia, Omphalocele, Hypoplasia of penis, Proteinuria, Failure to thrive in infancy, Congen...	ORPHA:2162
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic...	ORPHA:416
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Dec...	ORPHA:760
Fucosidosis	Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Flexion contracture, Vacuolated lymphocy...	OMIM:230000
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Postnatal growth retardation, Multiple bladder diverticula, Recurrent otitis media, ...	ORPHA:2728
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Autoimmunity, Flexion contracture, Oliguria, Arthritis	ORPHA:220393
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Giant Cell Arteritis	Renal insufficiency, Pericarditis, Abnormality of thrombocytes, Mediastinal lymphadenopathy, Weig...	ORPHA:397
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Acute colitis, Leukocytosis, Weight loss, Hypoalbuminemia, Constrict...	ORPHA:67
Whipple Disease	Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Cachexia, Splenomegaly, Mediastinal lymphaden...	ORPHA:3452
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Hypophosphatemic Bone Disease	Short stature, Hypophosphatemia	OMIM:146350
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hyperbilirubinemia, Steatorrhea, ...	OMIM:235555
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Behçet Disease	Glomerulopathy, Renal insufficiency, Myositis, Acne, Increased inflammatory response, Pericarditi...	ORPHA:117
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Hiatus hernia, Overweight, Recurrent pneumonia, Persistence of hemoglobin F, Increased size of na...	OMIM:619769
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hemolytic anemia	OMIM:266120
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Nephrolithiasis, Hypokalemia, Primary hyperaldosteronism, Left ventricular hypertrophy, Decreased...	OMIM:615474
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul...	ORPHA:33001
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Hypospadias	OMIM:610644
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure...	ORPHA:3027
Cockayne Syndrome Type 3	Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter, Mild postnatal growth retarda...	ORPHA:90324
Fanconi Anemia, Complementation Group O	Hydronephrosis, Short stature, Stage 5 chronic kidney disease, Renal cyst	OMIM:613390
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Obesity, Cholestasis, Hepatitis, Increased LDL cholesterol concentration, A...	ORPHA:209902
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Renal insufficiency, Hypospadias, Short stature, Rhizomelic leg shortening, Renal cortical cysts,...	ORPHA:397715
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Hyperaldosteronism, Dexamethasone-suppressible primary hyperaldosteronism, Nephrolit...	ORPHA:369929
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine...	OMIM:616878
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Abnormality of T cell physiology, Generalized lymphadenopathy, Spleno...	OMIM:181000
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Short stature, Impaired T cell function, Splenomegaly, Decreased serum zinc, Failur...	OMIM:201100
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Eosinophilia, Increased circulating IgE level, Cellulitis, Chro...	ORPHA:2314
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Failure to thrive, Recurrent pneumonia, Increased circulating IgE level	OMIM:616069
Distal Deletion 10Q	Failure to thrive, Short stature, Postnatal growth retardation, Functional abnormality of the bla...	ORPHA:96148
Donnai-Barrow Syndrome	Omphalocele, Proteinuria, Congenital diaphragmatic hernia, Non-acidotic proximal tubulopathy, Umb...	OMIM:222448
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog...	OMIM:614227
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hypospadias, Scrotal hypospadias, Hyperkalemia, Perineal hypospadias, Microphallus,...	OMIM:201810
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Autoimmunity, Pneumonia, Splenomegaly, Lymphadenopathy, Hypocalci...	ORPHA:169090
Neuhauser Syndrome	Hypercholesterolemia, Short stature	OMIM:249310
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, H...	ORPHA:116
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia, Nephrolithiasis, Abdominal obesity, Obesity	OMIM:219090
Mercury Poisoning	Interstitial pneumonitis, Hypokalemia, Acute kidney injury	ORPHA:330021
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Short stature, Hyperlipidemia, Hyperkalemia, Obesity, Enuresis, Delayed puberty, In...	ORPHA:293987
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia, Short stature	ORPHA:2479
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Postnatal growth retardation...	ORPHA:508
Viss Syndrome	Chronic gastritis, Inguinal hernia, Short stature, Eczema, Increased circulating IgE level, Hyper...	OMIM:619472
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Pneumonia, Jaundice, Hyperkalemia, Failure to...	ORPHA:90790
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Hypercalciuria, Hypokalemia, Dexamethasone...	ORPHA:251274
Hepatoerythropoietic Porphyria	Hemolytic anemia, Recurrent bacterial skin infections, Scarring, Abnormal circulating porphyrin c...	ORPHA:95159
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Short stature, Eosinophilia, Seborrheic dermatitis, Panc...	OMIM:274000
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Autoimmune antibody positiv...	ORPHA:99885
Pheochromocytoma	Hypercalcemia, Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level	OMIM:171300
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hyperalaninemia, Failure to thrive, Stage 5 chronic kidney disease, Lacticaciduria	OMIM:618250
Monosomy 18Q	Short stature, Growth delay, Micropenis, Failure to thrive, Slender build, Decreased circulating ...	ORPHA:1600
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Hepatic necrosis, Growth delay, Myoglobinuria, Hepatic steatosis	OMIM:231530
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, Splenomegaly, Growth delay, Bil...	OMIM:613027
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Hepatitis, Uveitis, Lymp...	ORPHA:509
Cranioectodermal Dysplasia 4	Bone marrow hypocellularity, Recurrent pneumonia, Short stature, Stage 5 chronic kidney disease	OMIM:614378
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Short stature, Eczema, Postnatal growth retardation, Increased circulating IgE level, Thyroiditis...	OMIM:618985
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepati...	OMIM:613812
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Short stature	OMIM:617101
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Enlarged ovaries, Short stature, Long penis, Nephrocalcinosi...	ORPHA:769
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Urinary incontinence, Elevated circu...	OMIM:232300
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo...	OMIM:608594
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Proteinuria, Renal dysplasia	OMIM:191830
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Short stature, Abnormality of neutrophils, Thrombocytopen...	ORPHA:1775
22Q11.2 Deletion Syndrome	Impaired T cell function, Hypoplasia of the thymus, Hypocalcemia, Vesicoureteral reflux, Chronic ...	ORPHA:567
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Micronodular cirrhosis, Proteinuria	OMIM:192315
Dystrophic Epidermolysis Bullosa Pruriginosa	Atrophic scars, Increased circulating IgE level, Scarring	ORPHA:89843
Eisenmenger Syndrome	Brain abscess, Renal insufficiency, Hepatomegaly, Elevated circulating C-reactive protein concent...	ORPHA:97214
Malakoplakia	Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Follicular hyperplasia, Or...	ORPHA:556
Sifrim-Hitz-Weiss Syndrome	Vesicoureteral reflux, Renal insufficiency, Micropenis, Short stature	OMIM:617159
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,...	ORPHA:86843
Joubert Syndrome 2	Renal insufficiency, Failure to thrive, Renal cyst, Nephronophthisis	OMIM:608091
Say-Barber-Miller Syndrome	Short stature, Eczema, Erythema nodosum, Elbow flexion contracture, Transient hypogammaglobulinem...	ORPHA:3132
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Acne, Short stature, Renal salt wasting, Long penis, Hypoka...	ORPHA:90795
Immunodeficiency 67	Liver abscess, Transient neutropenia, Increased circulating IgE level	OMIM:607676
Histiocytosis-Lymphadenopathy Plus Syndrome	Episcleritis, Hepatomegaly, Short stature, Camptodactyly of finger, Cardiomegaly, Retroperitoneal...	OMIM:602782
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Lathosterolosis	Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology	ORPHA:46059
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Hypospadias, Increased circulating corticosterone level, Hy...	ORPHA:90793
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Reynolds Syndrome	Calcinosis, Hepatomegaly, Antinuclear antibody positivity, Splenomegaly, Jaundice, Erythema nodos...	OMIM:613471
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly,...	OMIM:619418
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:259900
Joubert Syndrome 9	Hepatic fibrosis, Stage 5 chronic kidney disease	OMIM:612285
Riddle Syndrome	Decreased circulating IgG level, Short stature	OMIM:611943
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Lipoatrophy, Papillary renal cell carcinoma, Abnormal intrahepatic bile duc...	ORPHA:363618
Scleromyxedema	Paraproteinemia, Abnormality of the kidney, Elevated circulating creatine kinase concentration	ORPHA:167635
Severe Acute Respiratory Syndrome	Acute infectious pneumonia, Acute kidney injury	ORPHA:140896
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Immunoglobulin A Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Pustule, Orchitis, Hem...	ORPHA:761
Relapsing Polychondritis	Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna...	ORPHA:728
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, ...	ORPHA:231625
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M...	ORPHA:309854
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentr...	ORPHA:565612
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level, Short stature	ORPHA:1858
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen...	ORPHA:97282
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Small for gestational age, Portal hypertension, Conjugated hyperbilirubinemia, Sple...	ORPHA:567983
Juvenile Polyposis Syndrome	Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia	OMIM:174900
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Joubert Syndrome With Oculorenal Defect	Nephropathy, Renal insufficiency	ORPHA:2318
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Apparent Mineralocorticoid Excess	Small for gestational age, Short stature, Growth delay, Hypokalemia, Failure to thrive, Decreased...	OMIM:218030
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Urete...	ORPHA:261265
Joubert Syndrome With Renal Defect	Nephropathy, Renal insufficiency	ORPHA:220497
Trichothiodystrophy 5, Nonphotosensitive	Intrauterine growth retardation, Micropenis, Chronic decreased circulating IgG1, Short stature	OMIM:300953
Wagro Syndrome	Nephroblastoma, Proteinuria, Obesity	OMIM:612469
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Dys...	ORPHA:95455
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Renal insufficiency, Short stature, Reduced pancreatic beta cells	OMIM:226980
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating cortisol level, Hypospadias, Small for gestational age, Hyper...	OMIM:201750
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I...	OMIM:615508
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Flexion contracture, Generaliz...	OMIM:619183
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Splenomegaly, Abnormal subcutaneous fat tissue distribution, Leukopenia, ...	ORPHA:1328
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Primary Unilateral Adrenal Hyperplasia	Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokal...	ORPHA:231580
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria	OMIM:267430
Interstitial Lung Disease 2	Increased circulating antibody level, Cirrhosis	OMIM:178500
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Encephalitis Lethargica	Autoimmunity, Urinary incontinence, Increased circulating antibody level	ORPHA:83600
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Short stature, Hypercalcemia, Hypophosphatemia	ORPHA:249
Cranioectodermal Dysplasia 1	Hepatomegaly, Inguinal hernia, Rhizomelia, Malformation of the hepatic ductal plate, Renal magnes...	OMIM:218330
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Simpson-Golabi-Behmel Syndrome	Omphalocele, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias...	ORPHA:373
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Short stature, Abnormality of the kidney, Horseshoe kidney,...	ORPHA:391641
Acute Liver Failure	Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, Hepatocellular necrosis, Hepati...	ORPHA:90062
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Lipoma, Splenomegaly, Nephroblastoma, Renal hypoplasia	OMIM:612918
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233710
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Thrombocytopenia, Leukopenia, Increased mean corpuscular volume, Bone ma...	OMIM:127550
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Caffey Disease	Increased circulating antibody level, Cellulitis	ORPHA:1310
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure...	OMIM:140000
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Spl...	ORPHA:90340
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Cardiomegaly, Abnormal t...	ORPHA:904
Hereditary Chronic Pancreatitis	Elevated circulating C-reactive protein concentration, Leukocytosis, Jaundice, Recurrent pancreat...	ORPHA:676
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Stage 5 chronic kidney disease, Hepatic cysts	OMIM:613819
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Abscess, Chronic kidney disease, Corneal scarring, Atypical scarring of...	ORPHA:642
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Autoi...	ORPHA:77293
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ...	ORPHA:508542
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:144010
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Abnormal dental enamel morphology...	ORPHA:2750
Williams-Beuren Syndrome	Flexion contracture, Nephrocalcinosis, Vesicoureteral reflux, Micropenis, Pelvic kidney, Short st...	OMIM:194050
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal insufficiency, Renal agenesis, Short stature, Ectopic kidney, Horseshoe kidney, Vesicourete...	ORPHA:140952
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Familial Tumoral Calcinosis	Nephrocalcinosis, Splenomegaly, Skin rash, Hepatomegaly	ORPHA:53715
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating creatine k...	OMIM:602668
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Aymé-Gripp Syndrome	Inguinal hernia, Pericarditis, Proteinuria, Short stature, Congenital diaphragmatic hernia, Postn...	ORPHA:1272
Enamel-Renal Syndrome	Renal insufficiency, Abnormal dental enamel morphology, Hypophosphaturia, Impaired renal concentr...	ORPHA:1031
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Pmm2-Cdg	Pericarditis, Multiple joint contractures, Proteinuria, Lipodystrophy, Reduced thyroxin-binding g...	ORPHA:79318
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils	ORPHA:2268
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Hepatic h...	OMIM:193300
Neurooculorenal Syndrome	Hypoplasia of the bladder, Decreased circulating cortisol level, Unilateral renal agenesis, Conju...	OMIM:620305
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Increased circulating IgE level, Erythroderma, Failure to thrive, Blepharitis	OMIM:614328
African Trypanosomiasis	Hepatomegaly, Renal insufficiency, Pericarditis, Urinary incontinence, Keratitis, Splenomegaly, J...	ORPHA:3385
Ectopic Aldosterone-Producing Tumor	Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokal...	ORPHA:231632
Hermansky-Pudlak Syndrome 1	Renal insufficiency, Colitis, Inflammation of the large intestine	OMIM:203300
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Orofaciodigital Syndrome I	Proteinuria, Short stature, Pancreatic cysts, Hepatic fibrosis, Polycystic kidney dysplasia, Enam...	OMIM:311200
Congenital Disorder Of Glycosylation, Type Iib	Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Subcorneal Pustular Dermatosis	Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma...	ORPHA:48377
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Growth delay, Hypokalemia, Hyperaldosteronism, Increased circulating...	OMIM:214700
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Exstrophy-Epispadias Complex	Omphalocele, Renal insufficiency, Bladder fistula, Inguinal hernia, Urinary incontinence, Abnorma...	ORPHA:322
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Proportionate short stature, Obesity, Hydronephrosis, Growth delay, Periodontitis, Moderate album...	OMIM:619269
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Rhizomelia, Disproportionate short-limb short stature, Neutropenia	OMIM:271510
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Short stature, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, ...	OMIM:181270
Trichothiodystrophy 1, Photosensitive	Small for gestational age, Short stature, Flexion contracture, Absence of subcutaneous fat, Kerat...	OMIM:601675
Whim Syndrome	Lymphadenitis, Abnormal neutrophil morphology, Limb ataxia, Neutropenia, Lymphopenia	ORPHA:51636
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hip contracture, Hypospadias, Abnormality of the kidne...	ORPHA:821
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Renal Fanconi syndrome, Short stature, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Scorpion Envenomation	Acute pancreatitis, Ketonuria, Increased circulating NT-proBNP concentration, Myocarditis, Increa...	ORPHA:466677
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss	OMIM:188580
Epilepsy-Telangiectasia Syndrome	Short stature, Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hyperaldosteronism	OMIM:605635
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
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity	OMIM:619351
Okur-Chung Neurodevelopmental Syndrome	Inguinal hernia, Failure to thrive, Decreased circulating antibody level, Umbilical hernia, Decre...	OMIM:617062
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Chronic kidney disease	ORPHA:25
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Vesicoureteral reflux, Failure to thrive,...	OMIM:616580
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Short stature, Long penis, Hypokalemia, Elevated serum 11-deoxycortisol, Decreased circulating re...	OMIM:202010
Serotonin Syndrome	Acute kidney injury	ORPHA:43116
Hypotrichosis Simplex Of The Scalp	Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis	ORPHA:90368
Familial Hyperaldosteronism Type Ii	Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Dexamethasone-suppressible pr...	ORPHA:404
Cornelia De Lange Syndrome	Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Congenital d...	ORPHA:199
Cranioectodermal Dysplasia 3	Rhizomelia, Short stature, Stage 5 chronic kidney disease, Cirrhosis, Nephronophthisis	OMIM:614099
Familial Hyperaldosteronism Type I	Hypokalemia, Dexamethasone-suppressible primary hyperaldosteronism	ORPHA:403
Nelson Syndrome	Increased urinary cortisol level, Secondary hypercortisolism, Hypokalemia, Increased circulating ...	ORPHA:199244
Johanson-Blizzard Syndrome	Hepatomegaly, Hypospadias, Small for gestational age, Urethrovaginal fistula, Increased VLDL chol...	OMIM:243800
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate...	OMIM:606002
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Shor...	OMIM:614527
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ...	ORPHA:391665
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,...	ORPHA:857
Costello Syndrome	Renal insufficiency, Short stature, Achilles tendon contracture, Failure to thrive, Lymphangiectasis	OMIM:218040
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Eczema, Elbow contracture, Allergic rhinitis, Knee flexion contracture, Decreased cir...	OMIM:618162
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr...	OMIM:610188
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Hypokalemia, Increased circulating cortisol level, Acne	ORPHA:786
Orofaciodigital Syndrome Type 3	Stage 5 chronic kidney disease	ORPHA:2752
Steinert Myotonic Dystrophy	Hypercholesterolemia, Cholelithiasis	ORPHA:273
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia, Short stature, Enamel hypoplasia	OMIM:170390
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Tropical Endomyocardial Fibrosis	Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Cardiome...	ORPHA:75565
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Aneurysm Of Sinus Of Valsalva	Oliguria, Bacterial endocarditis	ORPHA:1054
Townes-Brocks Syndrome 1	Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Small for gestati...	OMIM:107480
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Failure to thrive in infancy, Bilateral renal dysplasia, Unilateral renal age...	ORPHA:500150
Oculoskeletodental Syndrome	Short stature, Hypercalcemia, Nephrocalcinosis, Hypocalcemia, Enamel hypoplasia	ORPHA:557003
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Small for gestational age, Short stature, Dilatation of the renal pe...	ORPHA:2044
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Hiatus hernia	OMIM:616682
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Jaundice, Moderate albuminuria, Obesity	OMIM:614231
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Hypokalemia, Failure to thrive	OMIM:618426
Tsh-Secreting Pituitary Adenoma	Hypokalemia, Delayed puberty, Weight loss	ORPHA:91347
Trichinellosis	Skin rash, Increased circulating IgE level, Conjunctivitis	ORPHA:863
Vascular Ehlers-Danlos Syndrome	Inguinal hernia, Hypospadias, Short stature, Osteoarthritis, Cystocele, Cigarette-paper scars, Re...	ORPHA:286
Cysticercosis	Iridocyclitis, Increased circulating antibody level, Infectious encephalitis	ORPHA:1560

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

Embryo LacZ

X-ray

X-ray

X-ray

Gross Pathology and Tissue Collection

X-ray

Eye Morphology

Gross Morphology Embryo E9.5

Combined SHIRPA and Dysmorphology

Human diseases caused by Pik3c2a mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data