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Gene: Tnip1 MGI:1926194

Gene Summary

Name:

TNFAIP3 interacting protein 1

Synonyms:

ABIN1, Nef, VAN, A20-binding inhibitor of NF-kappa B activation

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
increased circulating alkaline phosphatase level	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
decreased circulating HDL cholesterol level	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.92×10^-20
decreased circulating fructosamine level	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.73×10^-21
decreased hematocrit	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.20×10^-30
increased basophil cell number	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	6.81×10^-07
increased circulating alanine transaminase level	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
thrombocytopenia	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.33×10^-33
increased large unstained cell number	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.32×10^-18
increased monocyte cell number	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.59×10^-14
increased circulating potassium level	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.90×10^-07
decreased circulating serum albumin level	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.29×10^-11
increased circulating aspartate transaminase level	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.08×10^-31
decreased erythrocyte cell number	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.49×10^-30
decreased circulating cholesterol level	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.30×10^-23
increased mean corpuscular hemoglobin concentration	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.34×10^-07
decreased circulating glucose level	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.53×10^-05
increased mean corpuscular hemoglobin	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.49×10^-08
decreased circulating iron level	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.19×10^-09
increased freezing behavior	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.68×10^-06
prolonged RR interval	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.50×10^-05
decreased circulating triglyceride level	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.31×10^-05
increased spleen weight	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased red blood cell distribution width	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.14×10^-35
decreased hemoglobin content	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.58×10^-22
decreased lymphocyte cell number	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.47×10^-08
increased mean platelet volume	Tnip1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.76×10^-33

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	100% (2 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	100% (2 of 2)
Cerebral cortex	N/A	heterozygote	100% (2 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	100% (2 of 2)
Hippocampus	N/A	heterozygote	100% (2 of 2)
Hypothalamus	N/A	heterozygote	100% (2 of 2)
Kidney	N/A	heterozygote	100% (2 of 2)
Large intestine	N/A	heterozygote	100% (2 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	100% (2 of 2)
Lung	N/A	heterozygote	100% (2 of 2)
Lymph node	N/A	heterozygote	100% (2 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	100% (2 of 2)
Oral epithelium	N/A	heterozygote	100% (2 of 2)
Ovary	N/A	heterozygote	50% (1 of 2)
Oviduct	N/A	heterozygote	50% (1 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	100% (2 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	100% (2 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	100% (2 of 2)
Small intestine	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	100% (2 of 2)
Striatum	N/A	heterozygote	100% (2 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	100% (2 of 2)
Thyroid gland	N/A	heterozygote	50% (1 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	50% (1 of 2)
Vascular system	N/A	heterozygote	100% (2 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	Ambiguous
Brain	N/A	homozygote	Ambiguous
Ear	N/A	heterozygote	Ambiguous
Ear	N/A	homozygote	Ambiguous
Embryo	N/A	heterozygote	Ambiguous
Embryo	N/A	homozygote	Ambiguous
Eye	N/A	heterozygote	Ambiguous
Eye	N/A	homozygote	Ambiguous
Footplate	N/A	heterozygote	Ambiguous
Footplate	N/A	homozygote	Ambiguous
Forebrain	N/A	heterozygote	Ambiguous
Forebrain	N/A	homozygote	Ambiguous
Forelimb	N/A	heterozygote	Ambiguous
Forelimb	N/A	homozygote	Ambiguous
Handplate	N/A	heterozygote	Ambiguous
Handplate	N/A	homozygote	Ambiguous
Head	N/A	heterozygote	Ambiguous
Head	N/A	homozygote	Ambiguous
Heart	N/A	heterozygote	Ambiguous
Heart	N/A	homozygote	Ambiguous
Hindbrain	N/A	heterozygote	Ambiguous
Hindbrain	N/A	homozygote	Ambiguous
Hindlimb	N/A	heterozygote	Ambiguous
Hindlimb	N/A	homozygote	Ambiguous
Liver	N/A	heterozygote	Ambiguous
Liver	N/A	homozygote	Ambiguous
Lung	N/A	heterozygote	Ambiguous
Lung	N/A	homozygote	Ambiguous
Mandibular process	N/A	heterozygote	Ambiguous
Mandibular process	N/A	homozygote	Ambiguous
Maxillary process	N/A	heterozygote	Ambiguous
Maxillary process	N/A	homozygote	Ambiguous
Midbrain	N/A	heterozygote	Ambiguous
Midbrain	N/A	homozygote	Ambiguous
Oral cavity	N/A	heterozygote	Ambiguous
Oral cavity	N/A	homozygote	Ambiguous
Skin	N/A	heterozygote	Ambiguous
Skin	N/A	homozygote	Ambiguous
Tail somite	N/A	heterozygote	Ambiguous
Tail somite	N/A	homozygote	Ambiguous
Tail	N/A	heterozygote	Ambiguous
Tail	N/A	homozygote	Ambiguous

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

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

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

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

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
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%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

Adult LacZ

LacZ Images Wholemount

19 Images

View images

Embryo LacZ

LacZ images wholemount

8 Images

View images

Human diseases caused by Tnip1 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 Tnip1 (1 diseases)
Human diseases predicted to be associated with Tnip1 (2124 diseases)

The table below shows human diseases associated to Tnip1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Systemic Lupus Erythematosus		Anti-Sm antibody positivity, Hematuria, Decreased circulating complement C4 concentration, Weight...	ORPHA:536

The table below shows human diseases predicted to be associated to Tnip1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Autoimmune Lymphoproliferative Syndrome	Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He...	OMIM:601859
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He...	OMIM:603909
Complement Component 4, Partial Deficiency Of	Systemic lupus erythematosus	OMIM:120790
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Autoimmunity, Splenomegaly, Follicular hyperplasia, Increased circulating...	OMIM:614470
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Muco...	OMIM:615767
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen...	OMIM:618982
Immunodeficiency 25	Recurrent pneumonia, Protracted diarrhea, Increased circulating IgE level, Complete or near-compl...	OMIM:610163
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N...	OMIM:619220
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ...	OMIM:618944
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Abnormality of humoral immunity, Inflammatory abnormality of the skin, Recurrent pneumonia, Absen...	ORPHA:277
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, A...	ORPHA:397596
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Abnormal T cell count, Abnormal B cell count, Chronic decreased ...	OMIM:613495
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Autoimmunity, ...	OMIM:609529
Schnitzler Syndrome	Vasculitis, Leukocytosis, Splenomegaly, Skin rash, Anemia, Lymphadenopathy, Arthritis, Hepatomega...	ORPHA:37748
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Hepatic failure, Abnormal T cell count, Aplastic anemia, Hemopha...	OMIM:308240
Immunodeficiency 27A	Pneumonia, Rheumatoid factor positive, Enlarged mesenteric lymph node, Hepatosplenomegaly, Leukoc...	OMIM:209950
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne...	OMIM:619281
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil...	OMIM:617638
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Nephrotic synd...	OMIM:617006
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glyco...	OMIM:618048
Immunodeficiency 18	Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro...	ORPHA:98813
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod...	OMIM:247800
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph...	ORPHA:169154
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmunity...	OMIM:618495
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:236000
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor...	ORPHA:90039
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Autoimmune Lymphoproliferative Syndrome	Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea...	ORPHA:3261
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s...	OMIM:618969
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia	ORPHA:46532
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level	OMIM:235900
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Recurrent urinary tract infections, Recurre...	OMIM:612783
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Pancytop...	OMIM:618394
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea	OMIM:619398
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat...	OMIM:617514
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ...	OMIM:308230
Immunodeficiency 15B	Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga...	OMIM:615592
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Decreas...	OMIM:617241
Boutonneuse Fever	Vasculitis, Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Le...	ORPHA:83313
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy...	OMIM:153600
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ...	OMIM:616860
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren...	OMIM:619707
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmunity, Sple...	OMIM:616005
Immunodeficiency 95	Decreased circulating IgG3 level, Lymphopenia, Recurrent viral pneumonia, Increased circulating I...	OMIM:619773
Igg4-Related Aortitis	Abnormal aortic arch morphology, Aortic dissection, Increased circulating IgE level, Reduced circ...	ORPHA:449400
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Corneal neovascularization, Antinuc...	OMIM:617388
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Eczematoid dermatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c...	OMIM:304790
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi...	OMIM:620449
Autoimmune Hepatitis	Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone...	ORPHA:2137
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func...	OMIM:240500
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin...	OMIM:618459
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,...	OMIM:613500
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Increased circulating IgE level, Lymphopenia,...	OMIM:620603
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia	OMIM:616941
Sting-Associated Vasculopathy, Infantile-Onset	Rheumatoid factor positive, Pustular rash, Lymphopenia, Leukopenia, Malar rash, Follicular hyperp...	OMIM:615934
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib...	OMIM:202700
Kimura Disease	Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ...	ORPHA:482
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Protein-losing enteropathy, Recurrent pneumonia, Recurrent otiti...	OMIM:613502
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Gastroesophageal reflux, Increased circulating IgE level, Eosinophilic infiltr...	OMIM:620532
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,...	OMIM:300400
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve...	OMIM:607271
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Elevated haptoglobin level, Intestinal lymphangiectasia, Abnormal circulating cr...	OMIM:620632
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Systemic Lupus Erythematosus 16	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, De...	OMIM:614420
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired ...	OMIM:607594
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop...	ORPHA:217390
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ...	OMIM:619375
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hematochezia, Minimal change glomerulonephritis, Hepatitis, Eczematoid dermatitis, Increased circ...	OMIM:620565
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased...	OMIM:612692
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent pneumonia, Recurrent tonsillitis, Systemic lupus erythematosus, Renal insufficiency, Me...	OMIM:613779
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Pneumonia, Panhypogammaglobulinemia, Increa...	OMIM:602450
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Hepatome...	ORPHA:507
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopeni...	OMIM:226990
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia	OMIM:615008
Hashimoto Thyroiditis	Hashimoto thyroiditis, Autoimmune antibody positivity	OMIM:140300
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ...	OMIM:619802
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Increased circulating ...	ORPHA:100024
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Increased circul...	OMIM:616050
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia, Decreased circulating IgG level	OMIM:242880
Adult Idiopathic Neutropenia	Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Neutropenia, Monocytos...	ORPHA:2688
Tn Polyagglutination Syndrome	Autoimmunity	OMIM:300622
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Masp2 Deficiency	Reduced circulating complement concentration, Recurrent pneumonia, Ulcerative colitis, Systemic l...	OMIM:613791
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a...	OMIM:619868
Neutropenia, Chronic Familial	Periodontitis, Neutropenia, Increased circulating antibody level	OMIM:162700
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Vasculitis, Leukocytosis, Panniculitis, Skin rash, Increased proportion of CD4-positive T cells, ...	OMIM:617099
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, B lymphocytopenia, Colitis, T l...	OMIM:619164
Simple Cryoglobulinemia	Chronic lymphatic leukemia, Abnormality of the kidney, Nephrotic syndrome, Vasculitis, Gastrointe...	ORPHA:91139
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Ascites, Hyperlipidemia, Anemia, Hypertension	OMIM:603278
Thrombocytopenia With Beta-Thalassemia, X-Linked	Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp...	OMIM:314050
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut...	OMIM:301082
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Splen...	OMIM:210250
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po...	OMIM:312863
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells, Abnormal...	ORPHA:276
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi...	OMIM:603552
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho...	OMIM:620282
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Paraprot...	ORPHA:329918
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Lupus anticoagulant, Antiphospholipid a...	ORPHA:781
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul...	ORPHA:555905
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Recurrent otitis media, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Ab...	OMIM:613501
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cut...	OMIM:243700
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ...	OMIM:300635
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen...	OMIM:607616
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Atopic dermatitis, Decreased specific anti-polysaccharide...	ORPHA:70593
Common Variable Immunodeficiency	Pneumonia, Vasculitis, Elevated circulating hepatic transaminase concentration, Bronchiectasis, L...	ORPHA:1572
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent urinar...	OMIM:614699
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Aplasia of th...	OMIM:102700
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino...	OMIM:618523
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Anisocytosis, Retic...	OMIM:615631
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated...	OMIM:205950
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ...	OMIM:615285
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Recurrent pneumonia, Atopic d...	OMIM:619752
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia, Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia	OMIM:141000
Immunodeficiency 23	Allergic rhinitis, Aortic root aneurysm, Eczematoid dermatitis, Chronic mucocutaneous candidiasis...	OMIM:615816
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Anti-Sm antibody positivity, Lup...	OMIM:620376
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia	OMIM:300988
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Epistaxis, Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation...	OMIM:155100
Cernunnos-Xlf Deficiency	Lymphopenia, Decreased circulating antibody level, Autoimmunity, Thrombocytopenia, B lymphocytope...	ORPHA:169079
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ...	OMIM:187800
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen...	ORPHA:158061
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ...	OMIM:618987
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:300853
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Skin rash, Lupus anticoagulant, Antinuclear antibody positivity, Thrombocytopenia, I...	OMIM:616744
C1Q Deficiency 1	Decreased circulating complement factor I concentration, Autoimmunity, Membranoproliferative glom...	OMIM:613652
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Hepatic bridging fibrosis, Howell-Jolly bodies, Portal inflammation, Increased circulating interl...	OMIM:613759
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Lymphopenia, Decrease...	OMIM:616100
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,...	ORPHA:54370
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Lupus anticoagulant, Eryth...	OMIM:615688
Eosinophilic Gastroenteritis	Hypoalbuminemia, Hematochezia, Ascites, Leukocytosis, Eosinophilia, Elevated circulating C-reacti...	ORPHA:2070
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A...	ORPHA:37042
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Eleva...	ORPHA:331206
Immunodeficiency 48	Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, ...	OMIM:269840
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl...	OMIM:620210
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Eczematoid dermatitis, Systemic lupus erythematosus, Leukopenia, Acu...	OMIM:616871
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Elevated urine mevaloni...	OMIM:260920
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocut...	OMIM:618282
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri...	OMIM:619271
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:603553
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Pulmonary hemorrhage, Hepatomegaly, Lymphaden...	OMIM:619644
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Increased circulating IgE level, Hypereosinophilia, Leukocytosis, Autoimmunity...	ORPHA:2902
Primary Biliary Cholangitis	Cirrhosis, Increased circulating IgA level, Hepatomegaly, Celiac disease, Jaundice, Esophageal va...	ORPHA:186
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased proportion of...	OMIM:614878
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Inflammation of the large intestine, Cholestasis, Granulomatous cholangitis, Cirrhosis, Abnormal ...	ORPHA:562639
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Intestinal obstruction, P...	ORPHA:343
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Bleeding Disorder, Platelet-Type, 15	Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega...	OMIM:615193
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Recu...	OMIM:613101
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Pancreatitis, Redu...	OMIM:618805
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periport...	ORPHA:64743
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr...	ORPHA:400
Malaria	Anemia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia	ORPHA:673
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Microcytic anemia, Hepatosplenomegaly, Hepatic steatosis, Hypertriglyceridemia	OMIM:619013
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Reduced natural killer cell activity, ...	ORPHA:540
Bleeding Disorder, Platelet-Type, 25	Impaired ADP-induced platelet aggregation, Spontaneous, recurrent epistaxis, Thrombocytopenia, Ma...	OMIM:620486
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Thymoma	Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato...	ORPHA:99867
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ...	OMIM:618986
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Palpitations, Leukocytosis, Anemia...	ORPHA:86839
Igg4-Related Kidney Disease	Chronic kidney disease, Arteritis, Lymphadenitis, Inflammatory abnormality of the skin, Increased...	ORPHA:449395
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Histiocytosis, Skin rash	ORPHA:157997
Waldenström Macroglobulinemia	Normocytic anemia, Vasculitis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrha...	ORPHA:33226
Congenital Dyserythropoietic Anemia Type Iii	Increased circulating iron concentration, Melena, Increased mean corpuscular volume, Increased to...	ORPHA:98870
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia	OMIM:137560
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Bilateral cryptorchidism, Lymphopenia, Increased circulating IgA level, Abdo...	OMIM:616395
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,...	OMIM:613494
Cryoglobulinemic Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Viral hepatitis, Gastrointestinal infarctions, Abnormali...	ORPHA:91138
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Autoimmune thrombocyt...	ORPHA:436159
Acute Erythroid Leukemia	Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E...	ORPHA:318
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Myh9-Related Disease	Giant platelets, Spontaneous, recurrent epistaxis, Myocardial infarction, Congenital thrombocytop...	ORPHA:182050
Congenital Enterovirus Infection	Hypoalbuminemia, Hypotension, Fetal ascites, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, ...	ORPHA:292
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Second degree atrioventricular block, Extrame...	OMIM:617021
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Eczematoid dermatitis, Superfici...	ORPHA:83617
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function	ORPHA:231393
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Reduced circulating complement concentration, Abnormal glomerular mesangium ...	ORPHA:567544
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep...	ORPHA:1163
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Nephrotic syndrome, Nephritis, R...	OMIM:617303
Wiskott-Aldrich Syndrome	Nephropathy, Inflammation of the large intestine, Increased circulating IgE level, Abnormal delay...	OMIM:301000
Idiopathic Pulmonary Hemosiderosis	Antineutrophil antibody positivity, Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Antinucl...	ORPHA:99931
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia	ORPHA:209004
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Diarrhea, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, B lymp...	OMIM:601457
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit...	ORPHA:169160
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Increased circulating IgE lev...	ORPHA:449432
Alpha-Heavy Chain Disease	Ascites, Abnormal small intestine morphology, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphad...	ORPHA:100025
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Failure to thrive, Hepa...	OMIM:619858
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Refractory Celiac Disease	Normocytic anemia, Hypoalbuminemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology...	ORPHA:398063
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Antineutrophil antibody positivity,...	OMIM:301078
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent...	OMIM:619846
Bernard-Soulier Syndrome	Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Impaired ristocetin-in...	OMIM:231200
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Intrauterine growt...	OMIM:266200
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal...	ORPHA:848
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso...	ORPHA:71275
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Lymphopenia, Abnormal lymphocyte physiology, Abno...	ORPHA:1830
Multiple Myeloma	Nephropathy, Nephrotic syndrome, Acute kidney injury, Splenomegaly, Abnormality of the bladder, I...	ORPHA:29073
Immunodeficiency 15A	Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn...	OMIM:618204
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231226
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Increased circulating ...	OMIM:256500
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m...	ORPHA:90280
Slc35A1-Cdg	Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Angiostrongyliasis	Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ...	ORPHA:74
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,...	OMIM:619705
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Ige Responsiveness, Atopic	Increased circulating IgE level, Allergic rhinitis, Eczematoid dermatitis	OMIM:147050
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome...	ORPHA:1304
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level, Late onset atopic dermatitis	OMIM:221700
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level, Retinal telangiectasia	OMIM:267900
Papular Xanthoma	Histiocytosis	ORPHA:158008
Atypical Hemolytic Uremic Syndrome	Decreased circulating complement factor B concentration, Abnormality of complement system, Acute ...	ORPHA:2134
Primary Sjögren Syndrome	Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe...	ORPHA:289390
Immunoglobulin A Deficiency 1	Decreased circulating IgA level, Malabsorption, Recurrent infection of the gastrointestinal tract...	OMIM:137100
Peeling Skin Syndrome 1	Increased circulating IgE level, Eosinophilia, Erythroderma	OMIM:270300
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari syndrome, Ascites, ...	OMIM:226300
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec...	OMIM:243150
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Splen...	ORPHA:444463
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Systemic Lupus Erythematosus	Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Antinuclear antibody positivity,...	OMIM:152700
Majeed Syndrome	Acne, Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Leukocytosis, Splen...	ORPHA:77297
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro...	ORPHA:75564
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly	ORPHA:75563
Immunodeficiency 69	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,...	OMIM:618963
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Decreased circulating IgA level, Protruding tongue,...	OMIM:242860
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Complement Component 4A Deficiency	Decreased circulating complement C4 concentration, Glomerulonephritis, Reduced circulating CH50 a...	OMIM:614380
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Colitis, Decreased circulating antibody level, Esophagea...	OMIM:615190
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Immunodeficiency 22	Decreased circulating IgG level, Diarrhea, Protracted diarrhea, Decreased circulating IgA level, ...	OMIM:615758
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Cardiomyopathy, Increased circulating...	OMIM:613313
Glycogen Storage Disease Due To Aldolase A Deficiency	Arrhythmia, Hyperkalemia, Hemolytic anemia, Elevated creatine kinase after exercise	ORPHA:57
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Increased circulating IgE level, Pustule, Coarctation of aorta, Hypertension	OMIM:616069
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Insulin Autoimmune Syndrome	Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Weight loss, Ar...	ORPHA:411593
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Peritoneal effusion, Hypomagnesemia, Ascites, Lymphopenia, Intestinal lymphangie...	ORPHA:90362
Hemochromatosis, Type 4	Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hepatic steato...	OMIM:606069
Postinfectious Vasculitis	Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating anti...	ORPHA:48435
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Decreased urinary urate, Fa...	OMIM:613179
Diffuse Alveolar Hemorrhage	Antineutrophil antibody positivity, Autoimmunity, Leukocytosis, Hematuria, Antiphospholipid antib...	ORPHA:90060
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration...	ORPHA:158057
Acute Myelomonocytic Leukemia	Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia	ORPHA:517
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hemolytic anemia	OMIM:609153
Acquired Partial Lipodystrophy	Autoimmunity, Hepatic steatosis, Proteinuria, Glomerulopathy, Lymphocytosis, Decreased circulatin...	ORPHA:79087
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Conjunctivitis, Cervical lymphadenopathy, Abnormal n...	ORPHA:3392
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level, Leukocytosis	ORPHA:206594
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Cholestasis, Elevated circulating creatinine concentration, Ascites, Hepatomegal...	OMIM:608104
Wolcott-Rallison Syndrome	Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Ascites, Exocrine pancreatic insuf...	ORPHA:1667
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Pallor, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, El...	OMIM:615234
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl...	ORPHA:2585
Insulin-Resistance Syndrome Type B	Systemic lupus erythematosus, Decreased body weight, Increased body weight, Increased circulating...	ORPHA:2298
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Decreased circulating IgA level, B lymphocytopenia, D...	OMIM:614069
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Abnormally low T cell receptor excision circle level, Hepatic fibrosis, Bone marrow hypocellulari...	OMIM:617341
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Skin rash, Weight loss, Anemia, ...	ORPHA:33355
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre...	OMIM:617443
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Anoperineal fistula, Increased circulating IgE level, Leukocytosis, Pancoliti...	OMIM:618213
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia	OMIM:152800
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Epistaxis, Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired coll...	OMIM:153670
Liver Disease, Severe Congenital	Portal inflammation, Recurrent otitis media, Dilatation of the ventricular cavity, Hepatic steato...	OMIM:619991
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Neutropenia	OMIM:610798
Coccidioidomycosis	Abnormality of the spleen, Morbilliform rash, Abscess, Abnormality of the kidney, Erythema nodosu...	ORPHA:228123
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Mantle Cell Lymphoma	Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:52416
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Celiac disease, Eczematoid dermatitis, Thyroiditis	OMIM:618985
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Anorexia, Hyperammonemia, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytope...	ORPHA:79312
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Hepatic stea...	OMIM:278000
Agammaglobulinemia, X-Linked	Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ...	OMIM:300755
Prolidase Deficiency	Recurrent pneumonia, Eczematoid dermatitis, Systemic lupus erythematosus, Elevated circulating as...	OMIM:170100
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in...	ORPHA:231154
Immunodeficiency 53	Recurrent pneumonia, Failure to thrive, Recurrent urinary tract infections, Recurrent otitis medi...	OMIM:617585
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Cardiomyopathy, Increased circulating creatine kinase MM iso...	OMIM:613752
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Xerostomia, Abnormal salivary gland morphology, Increased circulating I...	ORPHA:79078
Hemochromatosis, Type 3	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:604250
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Panuveitis, Cerebral hemorrhage, Hepatosplenomegaly, Osteomyelit...	OMIM:301081
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Dystrophic Epidermolysis Bullosa Pruriginosa	Increased circulating IgE level	ORPHA:89843
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Inflammatory Bowel Disease 28, Autosomal Recessive	Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis	OMIM:613148
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Recurrent aphthous stomatitis, ...	ORPHA:275
Diarrhea 13	Hypoalbuminemia, Hepatic steatosis, Recurrent hypoglycemia	OMIM:620357
Trimethylaminuria	Depression, Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension	OMIM:602079
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit...	OMIM:169400
Reni Syndrome	Hypoalbuminemia, Lymphopenia, Hypoglycemia, Hypertriglyceridemia	OMIM:617575
Aicardi-Goutieres Syndrome 7	Pancytopenia, Hepatic steatosis, Chilblains, Increased circulating antibody level, Hepatomegaly, ...	OMIM:615846
Lymphoproliferative Syndrome 2	Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ...	OMIM:615122
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased LDL chole...	OMIM:615558
Systemic Lupus Erythematosus	Anti-Sm antibody positivity, Hematuria, Decreased circulating complement C4 concentration, Weight...	ORPHA:536
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Whim Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level, Bronchiectasis, Neutropenia	OMIM:193670
Anemia, Sideroblastic, 1	Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro...	OMIM:300751
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrh...	OMIM:251880
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Intrauteri...	ORPHA:2133
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hyperthreoninemia, Increased LDL cholesterol...	ORPHA:247598
Syndromic Diarrhea	Aortic regurgitation, Hepatic fibrosis, Peripheral pulmonary artery stenosis, Renal hypoplasia, P...	ORPHA:84064
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer...	OMIM:263300
Sneddon Syndrome	Lymphopenia, Ischemic stroke, Stroke, Antiphospholipid antibody positivity, Cerebral hemorrhage, ...	OMIM:182410
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Ménétrier Disease	Hypoalbuminemia, Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Anorexia, Hypoprotei...	ORPHA:2494
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Hypocomplementemic Urticarial Vasculitis	Uveitis, Ascites, Reduced circulating complement concentration, Autoimmunity, Renal insufficiency...	ORPHA:36412
Zika Virus Disease	Myelitis, Skin rash, Maculopapular exanthema, Infectious encephalitis, Arthritis, Thrombocytopeni...	ORPHA:448237
Lysinuric Protein Intolerance	Abnormality of humoral immunity, Hemophagocytosis, Hepatosplenomegaly, Increased circulating anti...	ORPHA:470
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Thrombocytopenia	OMIM:166990
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Muckle-Wells Syndrome	Nephropathy, Vasculitis, Renal amyloidosis, Conjunctivitis, Recurrent aphthous stomatitis, Episcl...	ORPHA:575
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Aortic regurgitati...	OMIM:222470
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Avian Influenza	Hypoalbuminemia, Hepatitis, Congestive heart failure, Lymphopenia, Leukopenia, Elevated circulati...	ORPHA:454836
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Preeclampsia/Eclampsia 1	Hypertension, Thrombocytopenia	OMIM:189800
Rhabdoid Tumor	Irritability, Hypertension, Neoplasm of the liver, Internal hemorrhage, Thrombocytopenia, Lymphad...	ORPHA:69077
Heme Oxygenase 1 Deficiency	Nephritis, Cervical lymphadenopathy, Hematuria, Hepatomegaly, Proteinuria, Coombs-positive hemoly...	OMIM:614034
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eczematoid dermatitis, Increased circulating IgE level, Osteomyelitis, Skin rash, Eosinophilia, V...	ORPHA:2314
Immune Dysregulation, Autoimmunity, And Autoinflammation	Increased circulating interleukin 8 concentration, Cervical lymphadenopathy, Inguinal lymphadenop...	OMIM:620514
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Reticulocytosis, Arrhythmia, Thrombocytopenia, Decreased serum...	ORPHA:54057
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Anti-Glomerular Basement Membrane Disease	Vasculitis, Autoimmunity, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis,...	ORPHA:375
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Transaldolase Deficiency	Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce...	ORPHA:101028
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis, Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic sy...	OMIM:608709
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia...	OMIM:620481
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Sterile abscess, Thrombocytosis, Arthritis, ...	OMIM:604416
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Glut1 Deficiency Syndrome 2	Splenomegaly, Reticulocytosis, Reduced haptoglobin level, Irritability, Hemolytic anemia	OMIM:612126
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia	OMIM:608898
Tempi Syndrome	Polycythemia, Ascites, Increased hematocrit, Telangiectasia, Abnormality of the kidney, Increased...	ORPHA:284227
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:35078
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Lymphadenitis, Chronic muco...	ORPHA:911
Analbuminemia	Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans...	OMIM:616000
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Antineutrophil antibody positivity, Aplastic anemia, Periodontitis, Lymphopenia, Recur...	ORPHA:486
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Lead Poisoning	Chronic kidney disease, Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increas...	ORPHA:330015
Maternal Uniparental Disomy Of Chromosome 4	Type I diabetes mellitus, Depression, Hypocholesterolemia, Abnormal erythrocyte morphology, Acant...	ORPHA:96180
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Mhc Class Ii Deficiency 1	Cutaneous anergy, Chronic mucocutaneous candidiasis, Protracted diarrhea, Panhypogammaglobulinemi...	OMIM:209920
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Retinitis Pigmentosa 89	Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, ...	OMIM:618955
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm...	OMIM:616433
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Systemic lupus erythematosus, Lymphopenia, Dark urine, Lupus a...	ORPHA:93552
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p...	ORPHA:331235
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Hepatic fibrosis, Elevated circulating hepatic...	OMIM:620005
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis, Arthritis	ORPHA:139436
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Relapsing Fever	Epistaxis, Hypotension, Increased total bilirubin, Elevated circulating creatinine concentration,...	ORPHA:91547
Immunodeficiency 104	Pneumonia, Gastroesophageal reflux, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Rec...	OMIM:608971
Hemochromatosis, Type 5	Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir...	OMIM:615517
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Congestive heart failure, Leukocytosis, Constrictive pericarditis, Lung abscess,...	ORPHA:67
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Pallor, Splenomeg...	OMIM:194380
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni...	OMIM:619902
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Mitral regurgitation,...	ORPHA:505248
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Depression, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia...	OMIM:301310
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Microcytic anemia, Recurrent otitis media, Inc...	OMIM:256040
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro...	ORPHA:98849
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmunity, Inter...	OMIM:615952
Immunodeficiency 96	Decreased circulating IgG level, Increased proportion of gamma-delta T cells, Increased mean corp...	OMIM:619774
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Thrombocytopenia, Elevated circulating creatine kinase concentration	OMIM:614727
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Diffuse Neonatal Hemangiomatosis	Ascites, Hepatomegaly, Thrombocytopenia, Anemia, Hypercalcemia	ORPHA:2123
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell...	OMIM:300835
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe...	OMIM:617243
Immunodeficiency 13	Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased prop...	OMIM:615518
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn...	OMIM:616217
Inflammatory Skin And Bowel Disease, Neonatal, 1	Blepharitis, Increased circulating IgE level, Villous atrophy, Pustule, Erythroderma, Duodenitis	OMIM:614328
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo...	OMIM:618999
Immunodeficiency 9	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Recurrent aphthous...	OMIM:612782
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Ventricular arrhythmia, Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:620475
Igg4-Related Ophthalmic Disease	Keratitis, Colon cancer, Increased circulating IgE level, Increased circulating IgG4 level, Siala...	ORPHA:449563
Aicardi-Goutieres Syndrome 6	Splenomegaly, Irritability, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	OMIM:615010
Bleeding Disorder, Platelet-Type, 19	Anemia, Macrothrombocytopenia, Epistaxis, Thrombocytopenia	OMIM:616176
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Increas...	ORPHA:90003
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Thrombocytopenia 1	Decreased mean platelet volume, Eczematoid dermatitis, Increased circulating IgE level, Increased...	OMIM:313900
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Pulmonary hemorrhage, A...	ORPHA:79124
Elliptocytosis 1	Pallor, Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia	OMIM:611804
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis, Absent circulating B cells, Thr...	OMIM:619693
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Failure to thrive, Conjunctivitis, Osteomyelitis, Autoimmunity, S...	ORPHA:47
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Ascites, Hypocholesterolemia, Splenomegaly, Hepatomegaly	OMIM:608776
Takayasu Arteritis	Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Gastrointestinal infarctions, Arter...	ORPHA:3287
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Proteinuria, Macronodular cirrhosis, Mucopolysacchariduria, Abno...	OMIM:215250
Al Amyloidosis	Hypoalbuminemia, Howell-Jolly bodies, Gastrointestinal hemorrhage, Postural hypotension with comp...	ORPHA:85443
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio...	OMIM:246700
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Vasculitis, Hematochezia, Cervical lymphadenopathy, Lymphocytosis...	OMIM:617718
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Antinuclear antibody positivity, Lymphade...	OMIM:618852
Generalized Pustular Psoriasis	Hypoalbuminemia, Congestive heart failure, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia,...	ORPHA:247353
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype...	ORPHA:529799
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Babesiosis	Depression, Congestive heart failure, Leukopenia, Splenomegaly, Thrombocytopenia, Anorexia, Hepat...	ORPHA:108
Wiskott-Aldrich Syndrome	Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine,...	ORPHA:906
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Leukopenia, Hyperammonemia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thromb...	ORPHA:27
Mirage Syndrome	Hypoglycemia, Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, Intracranial hemor...	OMIM:617053
Fanconi Anemia, Complementation Group G	Leukemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:614082
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Cryptorchidism, Neutropenia, Hepatomegaly,...	OMIM:612541
Crimean-Congo Hemorrhagic Fever	Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundic...	ORPHA:99827
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Irritability, Thrombocytopenia, Neutropenia	OMIM:229050
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Decreased c...	OMIM:613913
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Elevated circu...	ORPHA:231111
Pontocerebellar Hypoplasia, Type 15	Anemia, Chronic neutropenia, Thrombocytopenia	OMIM:619302
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia	ORPHA:2643
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso...	OMIM:618278
Osteopetrosis, Autosomal Recessive 9	Anemia, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Bone Marrow Failure Syndrome 2	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:615715
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hyperammonemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:289916
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Adult Acute Respiratory Distress Syndrome	Pneumonia, Vasculitis, Abnormal circulating interleukin concentration, Hypotension, Abnormality o...	ORPHA:70578
Lassa Fever	Oliguria, Shock, Conjunctivitis, Jaundice, Increased circulating IgM level, Dysphagia	ORPHA:99824
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Anal fi...	OMIM:618935
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgG level, Hepatic fibrosis, Elevated circulating hepatic transaminase conc...	OMIM:212065
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Anorexia, Tachycardia, Jaundice, Shock, Eleva...	ORPHA:99826
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Aicardi-Goutieres Syndrome 1	Vasculitis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Splenomegaly...	OMIM:225750
Fetal Parvovirus Syndrome	Anemia, Ascites, Hypertrophic cardiomyopathy, Thrombocytopenia	ORPHA:295
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Sideroblastic anemia, Elevated circulating hepatic transaminase concentration, Pallor	OMIM:613561
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ...	OMIM:619130
Citrullinemia Type Ii	Hypoalbuminemia, Mania, Hepatic fibrosis, Decreased HDL cholesterol concentration, Abnormal eatin...	ORPHA:247585
Pseudo-Torch Syndrome 3	Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, Congenit...	OMIM:618886
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Hematuria, Tubulointerstitial nephritis, Dysphagia, Endocarditis, Vasculi...	ORPHA:183
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Erythroderma, Lympha...	ORPHA:3162
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Acute pancreatitis, Ascites, Hepatosplenomegaly, Portal hypert...	OMIM:619487
Hb Bart'S Hydrops Fetalis	Pallor, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia	ORPHA:163596
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly	OMIM:312500
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Rift Valley Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorrhage, Skin rash...	ORPHA:319251
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Chronic diarrhea, Recurren...	OMIM:601495
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti...	OMIM:620133
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia, Lymphadenopathy	ORPHA:158014
Papa Syndrome	Crohn's disease, Proteinuria, Increased inflammatory response, Increased circulating antibody lev...	ORPHA:69126
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal...	OMIM:150550
Wolman Disease	Ascites, Splenomegaly, Hepatomegaly, Cachexia, Anemia, Bone-marrow foam cells	ORPHA:75233
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Hypotension, Hepatitis, Shock, Elevated circulating creatinine concentration, Ab...	ORPHA:36234
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ...	ORPHA:48104
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen...	OMIM:614172
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Hyperphosphatemia, Pulmonary embolism, Hypomagnesemia, Leukocyt...	ORPHA:94093
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Pulmonary arterial hyperte...	OMIM:613845
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Immunodeficiency 7	Failure to thrive, Recurrent otitis media, Hypereosinophilia, Autoimmunity, Splenomegaly, Autoimm...	OMIM:615387
Corticosteroid-Binding Globulin Deficiency	Hypotension, Hypokalemia, Decreased circulating cortisol level, Anemia, Hypertension, Reduced cir...	OMIM:611489
Amegakaryocytic Thrombocytopenia, Congenital, 1	Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:604498
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Nodular regenerative hyperpl...	ORPHA:210136
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Urban-Rogers-Meyer Syndrome	Increased circulating IgE level, Abnormality of the ureter, Hypoplasia of penis, Cryptorchidism	ORPHA:3409
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Renal d...	OMIM:208540
Desmoplastic Small Round Cell Tumor	Ascites, Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, An...	ORPHA:83469
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Skin rash, In...	OMIM:617591
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hematochezia, Hepatitis, El...	OMIM:613812
Coach Syndrome 1	Hepatic fibrosis, Unilateral renal agenesis, Elevated circulating hepatic transaminase concentrat...	OMIM:216360
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir...	OMIM:206100
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Chylomicron Retention Disease	Hypocholesterolemia, Acanthocytosis, Hepatic steatosis, Steatorrhea, Increased hepatocellular lip...	ORPHA:71
Gray Platelet Syndrome	Epistaxis, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia	ORPHA:721
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Paroxysmal atrial tachycardia, Megaloblastic anemia, Thrombocytopenia, ...	ORPHA:49827
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD...	ORPHA:572
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Eosinophilic infiltration of the esophagus, High palate, Duodena...	OMIM:147060
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Beta-Thalassemia Intermedia	Cholelithiasis, Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased ...	ORPHA:231222
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Gastroesophageal reflux, Hepatitis, Decreased circulating IgA level, Hypersplenism, Portal hypert...	OMIM:613385
Senior-Boichis Syndrome	Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega...	ORPHA:84081
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro...	OMIM:603554
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan...	OMIM:613839
Sweet Syndrome	Abnormal circulating interleukin concentration, Dilated cardiomyopathy, Inflammation of the large...	ORPHA:3243
Felty Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Recurrent urinary tract infections, Abnormal ly...	ORPHA:47612
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Aicardi-Goutieres Syndrome 3	Hepatosplenomegaly, Thrombocytopenia	OMIM:610329
Immunodeficiency 61	Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased...	OMIM:300310
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Hematochezia, Elevated circulating hepatic transaminase concentration, Lymphade...	OMIM:615895
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Failure to thrive, Methylmalonic aciduria, Decreased circulating...	OMIM:275350
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen...	ORPHA:89842
Igg4-Related Retroperitoneal Fibrosis	Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasiform dermatitis, Hematuria, Weight lo...	ORPHA:49041
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Galactose Epimerase Deficiency	Aminoaciduria, Splenomegaly, Weight loss, Hepatomegaly, Jaundice	ORPHA:79238
Yellow Fever	Pancreatic hyperplasia, Elevated circulating alanine aminotransferase concentration, Neutrophilia...	ORPHA:99829
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice	OMIM:179700
Juvenile Polyposis Syndrome	Anemia, Hematochezia, Hypokalemia, Hypoalbuminemia	OMIM:174900
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Tricuspid regurgitation, Portal hypertension, Splenomegaly, T...	OMIM:616589
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ...	OMIM:617780
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur...	ORPHA:508533
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Decreased circula...	OMIM:618838
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Hypocholesterolemia, Splenomegaly, Hepatomegaly, ...	OMIM:607765
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple...	ORPHA:449427
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Anemia, Decreas...	OMIM:618116
Secondary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Right ventricular failure,...	ORPHA:90363
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hypersplenism, Hepatosplenomegaly, ...	ORPHA:77259
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Hypotrichosis Simplex Of The Scalp	Increased circulating IgE level, Allergic rhinitis, Atopic dermatitis	ORPHA:90368
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Immunodeficiency 46	Failure to thrive, Neutropenia, Chronic oral candidiasis, Anemia, Conjunctivitis, Decreased circu...	OMIM:616740
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope...	OMIM:606003
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co...	ORPHA:3202
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia, Attention deficit hyperactivity disorder	OMIM:615401
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Pustule, Neutropenia, Hepatomegaly, Vasculitis, Malar rash, Enlar...	ORPHA:50918
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Systemic Lupus Erythematosus 17	Hypertensive crisis, Lymphopenia, Leukopenia, Mitral regurgitation, Raynaud phenomenon, Thrombocy...	OMIM:301080
Evans Syndrome	Pallor, Autoimmune hemolytic anemia, Petechiae, Neutropenia in presence of anti-neutropil antibod...	ORPHA:1959
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Skin rash, Proteinuria, Hematuria, Hep...	OMIM:105200
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps...	ORPHA:183675
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Abnormal B cell morphology, Recurrent otitis media, Cryptorchidism, Agammaglobulinemia, Decreased...	OMIM:616910
Acute Adrenal Insufficiency	Normocytic anemia, Hypotension, Hypoglycemia, Hyperuricemia, Hyponatremia, Decreased circulating ...	ORPHA:95409
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Panniculitis-Induced Localized Lipodystrophy	Abnormal immunoglobulin level, Inflammatory abnormality of the skin, Antinuclear antibody positiv...	ORPHA:90159
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Depression, Cerebral vasculitis, Leukocytosis, Hyponatremia, Thrombocytopenia	ORPHA:83601
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular ...	ORPHA:31150
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Thrombocytopenia, Dysphagia, Normochromic anemia	OMIM:254900
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Reticulocytosis, Hypokalemia, Anorexia, Decreased mean corpuscular volume, He...	OMIM:611590
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo...	OMIM:615861
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Elevated circulating C-rea...	ORPHA:457077
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Proximal tubulopathy, Failure to thrive, Cachexia, Weight loss	OMIM:612075
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral...	OMIM:301068
Netherton Syndrome	Aminoaciduria, Eczematoid dermatitis, Increased circulating IgE level, Skin rash, Hydronephrosis,...	ORPHA:634
Inflammatory Bowel Disease 25, Autosomal Recessive	Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ...	OMIM:612567
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm...	OMIM:602347
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Reduced circulating complement concentration, Autoimmunity, Arthritis	OMIM:216950
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center, Osteomyelitis, Recurrent infection of the gastrointestinal...	OMIM:608184
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Fadd-Related Immunodeficiency	Hepatic fibrosis, Pulmonary artery atresia, Autoimmune antibody positivity, Decreased liver function	ORPHA:306550
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper...	ORPHA:369
Cog4-Cdg	Hepatosplenomegaly, Irritability, Cirrhosis, Hypercholesterolemia, Thrombocytopenia	ORPHA:263501
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly, Neonatal death	OMIM:273680
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Congestive heart failure, Hypocholesterol...	ORPHA:14
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis, Bone marrow hypocellularity, Dilated cardiomyopathy, Aplastic anemia, Oral leuk...	OMIM:613989
Erythrocytosis, Familial, 1	Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob...	OMIM:133100
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insufficiency, Abnor...	OMIM:618752
Spondyloenchondrodysplasia	Chronic kidney disease, Vasculitis, Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus...	ORPHA:1855
Primary Erythromelalgia	Leukemia, Vasculitis	ORPHA:90026
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Hepatosplenomegaly, Noncompac...	ORPHA:353298
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Aceruloplasminemia	Decreased circulating iron concentration, Increased circulating ferritin concentration, Acerulopl...	OMIM:604290
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hepatomegaly, Jaundice, Hyperkalemia...	OMIM:608885
Tick-Borne Encephalitis	Myelitis, Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal circulati...	ORPHA:297
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Complement Component 2 Deficiency	Systemic lupus erythematosus	OMIM:217000
Fetal Cytomegalovirus Syndrome	Hepatitis, Retinal hemorrhage, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice, Co...	ORPHA:294
Familial Mediterranean Fever	Nephropathy, Acute hepatic failure, Intestinal obstruction, Arrhythmia, Nephrotic syndrome, Vascu...	ORPHA:342
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Dilated cardiomyopathy, Congestive heart failure, Ascites, Hepatosplenomegaly, P...	ORPHA:367
Propionic Acidemia	Hypoglycemia, Cardiomyopathy, Pancytopenia, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Cerebe...	OMIM:606054
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myeloprolifer...	OMIM:254450
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia of the thymus, Lympho...	ORPHA:100
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Macrocephaly/Autism Syndrome	Dilation of Virchow-Robin spaces, Recurrent otitis media, Lymphopenia, Penile freckling, Splenome...	OMIM:605309
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Anti-thyroglobulin antibody positivity, Fre...	OMIM:615577
Alg6-Cdg	Hypoalbuminemia, Jaundice, Decreased LDL cholesterol concentration, Abnormality of the liver	ORPHA:79320
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Hypoglycemia, Elevated circulating propionylcarnitine concentration, Panc...	OMIM:251110
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Pancytopenia, Abnormality of the...	ORPHA:398124
Caroli Syndrome	Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, Ab...	ORPHA:480520
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Paroxysmal bursts of laughter, Motor stereotypy	OMIM:618347
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Splenomegaly, Proteinuria, Hepatomegaly, Jaundice	OMIM:620010
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Splenom...	OMIM:615630
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Reduced haptoglobin level...	OMIM:301110
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Hyponatremia, Increased circulating corticostero...	OMIM:610600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis	OMIM:604273
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pallor, Reticulocyto...	ORPHA:300298
Immunodeficiency 68	Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, Abnormal ...	OMIM:612260
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Antinuclear antibody positivity, Crescentic glomerulonephritis, Mesangial hypercellularity, Arthr...	OMIM:616414
Fibronectin Glomerulopathy	Hypoalbuminemia, Hypertension, Cerebral hemorrhage	ORPHA:84090
Acute Peripheral Arterial Occlusion	Leukocytosis, Pallor	ORPHA:90064
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Skin rash, Interstitial pneum...	ORPHA:829
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes mellitus	OMIM:598500
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Recurrent otitis media, Foll...	OMIM:619381
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia	OMIM:118830
Dengue Fever	Epistaxis, Gastrointestinal hemorrhage, Hypotension, Ascites, Leukopenia, Thrombocytopenia, Cereb...	ORPHA:99828
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Elevated circulating creatine kinase concentration, Subarachnoid ...	OMIM:185070
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Isolated Agammaglobulinemia	Pneumonia, Failure to thrive, Abnormal lymphocyte morphology, Autoimmunity, Otitis media, Skin ra...	ORPHA:229717
Hemochromatosis, Type 2A	Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu...	OMIM:602390
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Snakebite Envenomation	Epistaxis, Hypotension, Cardiogenic shock, Neuromuscular dysphagia, Pseudobulbar paralysis, Cereb...	ORPHA:449285
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Spontaneou...	ORPHA:274
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Non-caseating e...	ORPHA:227990
Gaisböck Syndrome	Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Elevated dia...	ORPHA:90041
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Cardiomyopathy, Thrombocytopenia	ORPHA:67048
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Hema...	ORPHA:2035
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Overlap Myositis	Abnormal circulating lipid concentration, Leukopenia, Elevated circulating creatine kinase concen...	ORPHA:206572
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hypoglycemia, Cardiomyopathy, Leukopenia, Hyperglycinemia, Hyperammonemia, Cerebellar hemorrhage,...	OMIM:251000
Hyperinsulinism Due To Hnf1A Deficiency	Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Palpitations, R...	ORPHA:324575
Galactosemia Iii	Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hepatic steatosis, Hyperchole...	OMIM:612526
Immunodeficiency 17	Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Chronic decreased circula...	OMIM:615607
Immunoneurologic Disorder, X-Linked	Small for gestational age, Functional abnormality of the bladder, Decreased circulating IgG2 leve...	OMIM:300076
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Gaucher Disease	Cherry red spot of the macula, Pancytopenia, Increased circulating antibody level, Hematuria, Cir...	ORPHA:355
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Pallor	ORPHA:56425
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Reticulo...	OMIM:618892
Cronkhite-Canada Syndrome	Anemia, Hepatomegaly, Cachexia, Splenomegaly	ORPHA:2930
Glycogen Storage Disease Vi	Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Hypertrig...	OMIM:232700
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia,...	ORPHA:340
Alveolar Echinococcosis	Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesentery morphology, Bu...	ORPHA:284
Thrombocytopenia 9	Abnormal platelet aggregation, Thrombocytopenia	OMIM:620478
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia	OMIM:616738
Interstitial Lung Disease 2	Pulmonary arterial hypertension, Cirrhosis, Increased circulating antibody level	OMIM:178500
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Mitral regurgitation, Lymphadenopathy...	OMIM:619750
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Cardiomyopathy, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Increased serum pyruvate, Hyper...	OMIM:619046
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:618858
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Thrombocytopenia 5	Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb...	OMIM:616216
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Preeclampsia	Chronic kidney disease, Abnormality of the hepatic vasculature, Acute kidney injury, Autoimmunity...	ORPHA:275555
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Igg4-Related Thyroid Disease	Anti-thyroglobulin antibody positivity, Euthyroid goiter, Goiter, Increased circulating IgG4 leve...	ORPHA:64744
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop...	ORPHA:732
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Gastrointestinal hemorrhage, Portal hypertension, Hyperinsulin...	ORPHA:79319
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Skin rash, Lymphadenopathy,...	ORPHA:98848
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention	OMIM:616868
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage, Impaired arachidonic acid-induced platelet aggregation, Impaired ADP...	OMIM:618462
Addison Disease	Normocytic anemia, Thymoma, Type I diabetes mellitus, Hypotension, Hypoglycemia, Thiamine-respons...	ORPHA:85138
Late-Onset Familial Hypoaldosteronism	Hypotension, Hyponatremia, Elevated serum 11-deoxycortisol, Orthostatic hypotension, Abnormal cir...	ORPHA:556037
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody l...	ORPHA:319218
Platelet Signal Processing Defect	Epistaxis, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced...	OMIM:173590
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Lipodystrophy, Congenital Generalized, Type 4	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Decreased circulati...	OMIM:613327
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Anorexia, Ascites, Hepatosplenomegaly, Pancytopenia, Hy...	ORPHA:98850
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure	ORPHA:141179
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in r...	OMIM:600802
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Congenital Toxoplasmosis	Ascites, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice	ORPHA:858
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatosplenomegaly, Increased LDL cholesterol concentration, Splenomeg...	OMIM:616828
Glycogen Storage Disease Ixa1	Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly	OMIM:306000
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hypotension, Hyperkalemia, Ascites, Hepatosplenomegaly, Hypersplenism, Xanthela...	ORPHA:275761
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Inflammation of the large intestine, Elevated circulating hepatic tran...	OMIM:614576
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal...	OMIM:619079
Amed Syndrome, Digenic	Bone marrow hypocellularity, Leukopenia, Attention deficit hyperactivity disorder, Acute myeloid ...	OMIM:619151
C1Q Deficiency 2	Discoid lupus rash, Recurrent otitis media, Malar rash, Extractable nuclear antigen positivity, A...	OMIM:620321
Glycoprotein Storage Disease	Gout, Splenomegaly	OMIM:232900
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cardi...	ORPHA:264580
Early-Onset Familial Hypoaldosteronism	Hypotension, Hyponatremia, Elevated serum 11-deoxycortisol, Orthostatic hypotension, Abnormal cir...	ORPHA:556030
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231214
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ...	OMIM:616329
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, ...	OMIM:618775
Microscopic Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Oliguria, Uveitis, Congestive heart failure, ...	ORPHA:727
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:86893
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Cholelithiasis, Recurrent tonsillitis, Increased circulating renin level, Hypo...	ORPHA:171876
Diencephalic Syndrome	Cachexia, Long penis, Decreased body weight	ORPHA:1672
Congenital Disorder Of Glycosylation, Type Iig	Anemia, Left ventricular hypertrophy, Giant platelets, Thrombocytopenia	OMIM:611209
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	ORPHA:30391
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Vasculitis, Uveitis, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Intestinal obstruction, S...	ORPHA:32960
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612926
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Pulmonary arterial hype...	OMIM:614857
O'Sullivan-Mcleod Syndrome	Eosinophilia, Increased circulating antibody level	ORPHA:99965
Renal Hypoplasia, Bilateral	Glycosuria, Hyponatremia, Anemia, Hyperkalemia, Hypertension	ORPHA:97362
Takenouchi-Kosaki Syndrome	Pulmonic stenosis, Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Autoimmune Polyendocrinopathy Type 3	Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Antiphospholipid antibody positi...	ORPHA:227982
Porphyria Due To Ala Dehydratase Deficiency	Depression, Restlessness, Abnormal fear-induced behavior, Abnormal circulating porphyrin concentr...	ORPHA:100924
Necrotizing Enterocolitis	Hypotension, Shock, Hyperglycemia, Ascites, Leukocytosis, Abnormal glucose homeostasis, Bradycard...	ORPHA:391673
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Cyclic Neutropenia	Periodontitis, Lymphopenia, Cyclic neutropenia, Otitis media, Perianal abscess, Tooth abscess, Pe...	ORPHA:2686
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:614199
Cutaneous Photosensitivity And Colitis, Lethal	Colitis, Diarrhea	OMIM:219095
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Wilson Disease	Hypouricemia, Hypoalbuminemia, Portal fibrosis, Glycosuria, Ascites, Hyperbilirubinemia, Splenome...	OMIM:277900
Omenn Syndrome	Pneumonia, Failure to thrive, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenom...	ORPHA:39041
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ...	OMIM:616576
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, De...	OMIM:618835
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega...	OMIM:612301
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,...	OMIM:235400
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Cholestasis, H...	OMIM:615415
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration, Decreased circu...	OMIM:618839
Alg12-Cdg	Hypoalbuminemia, Recurrent hypoglycemia, Hypocholesterolemia, Hyponatremia, Thrombocytopenia, B l...	ORPHA:79324
Mcleod Syndrome	Dilated cardiomyopathy, Depression, Cardiomyopathy, Acanthocytosis, Splenomegaly, Reduced haptogl...	OMIM:300842
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula...	OMIM:208900
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl...	ORPHA:846
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure	ORPHA:141184
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Supernumerary nipple, Increased circulating IgE level, Cryptorchidi...	ORPHA:373
Gaucher Disease, Type Iii	Depression, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	OMIM:231000
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Porphyrinuria, Eczematoid dermatitis	OMIM:176090
Mevalonic Aciduria	Elevated circulating hepatic transaminase concentration, Fluctuating splenomegaly, Morbilliform r...	OMIM:610377
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612924
Alg1-Cdg	Hypoalbuminemia, Cardiomyopathy	ORPHA:79327
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased circulating IgA level, Decreased circulating antibody level, Recurrent skin infections	OMIM:617744
Neutrophilic Dermatosis, Acute Febrile	Dilated cardiomyopathy, Acne inversa, Panniculitis, Anemia, Increased circulating interleukin 6 c...	OMIM:608068
Bloom Syndrome	Neoplasm of the colon, Stomach cancer, Abscess, Abnormal proportion of CD8-positive T cells, Tela...	ORPHA:125
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Pulmonary embolism, Abnormal circulating lipid concentration, Peritonitis, Hyper...	ORPHA:567548
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612925
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,...	ORPHA:79277
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Diarrhea, Decreased lymphocyte proliferation in response to an...	OMIM:619313
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia	OMIM:616435
Osteopetrosis, Autosomal Recessive 8	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:615085
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet...	OMIM:606176
Acquired Purpura Fulminans	Shock, Internal hemorrhage, Thrombocytopenia, Elevated circulating C-reactive protein concentrati...	ORPHA:49566
Stuve-Wiedemann Syndrome 2	Pulmonary arterial hypertension, Dysphagia, Thrombocytopenia, Congestive heart failure	OMIM:619751
Malignant Hyperthermia, Susceptibility To, 1	Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia, ...	OMIM:145600
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ...	OMIM:610582
Complement Factor I Deficiency	Decreased circulating complement factor B concentration, Vasculitis, Recurrent urinary tract infe...	OMIM:610984
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha...	ORPHA:64753
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	OMIM:610333
5-Oxoprolinase Deficiency	Abdominal pain, Vomiting, Diarrhea, Enterocolitis	OMIM:260005
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Lymphangiectasis, He...	OMIM:602579
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Renal insufficiency, Cytopl...	ORPHA:93126
Aredyld Syndrome	Hepatomegaly, Abnormality of the ureter, Cachexia, Splenomegaly	ORPHA:1133
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Bronchiectasis, Telangiectases of the cheeks	OMIM:615139
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Arrhythmia, Throm...	OMIM:249270
Mogs-Cdg	Decreased circulating IgG level, Decreased circulating IgA level, Hepatosplenomegaly, Cardiomegal...	ORPHA:79330
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r...	OMIM:258900
Aregenerative Anemia	Bone marrow hypocellularity, Depression, Pancytopenia, Decreased proportion of CD4-positive helpe...	ORPHA:101096
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Cutaneous abscess, Eczematoid dermatitis,...	OMIM:618131
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Unilateral renal agenesis, Decreased lymphocyte proliferation in response to mitogen, Reduced nat...	ORPHA:221139
Glycogen Storage Disease Iii	Hepatomegaly, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomy...	OMIM:232400
Meckel Syndrome, Type 7	Aortic valve stenosis, Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatospleno...	OMIM:267010
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ...	ORPHA:263458
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Hematochezia, Abnormal circulating protein concentration, Abnormal circulating p...	ORPHA:103910
Ficolin 3 Deficiency	Necrotizing enterocolitis	OMIM:613860
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct...	OMIM:266600
Kawasaki Disease	Hypoalbuminemia, Vasculitis, Hepatitis, Congestive heart failure, Cervical lymphadenopathy, Leuko...	ORPHA:2331
Granulomatosis With Polyangiitis	Intestinal obstruction, Hematuria, Arrhythmia, Prostatitis, Inflammatory abnormality of the eye, ...	ORPHA:900
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Primary Familial Polycythemia	Epistaxis, Polycythemia, Abnormal hemoglobin	ORPHA:90042
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:614196
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop...	ORPHA:3226
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Lymphadenopathy	OMIM:611762
Neonatal Hemochromatosis	Prolonged neonatal jaundice, Abnormal localization of kidney, Congenital hepatic fibrosis	ORPHA:446
Lambert Syndrome	Cholestasis, Intrahepatic biliary atresia, Jaundice, Decreased circulating antibody level, Hyposp...	ORPHA:1296
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Whipple Disease	Uveitis, Splenomegaly, Infectious encephalitis, Myositis, Hepatomegaly, Cachexia, Arthritis, Myoc...	ORPHA:3452
Letterer-Siwe Disease	Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia, Jaundice	OMIM:246400
Combined Oxidative Phosphorylation Deficiency 34	Hypoglycemia, Elevated circulating creatinine concentration, Pancytopenia, Hepatic steatosis, Inc...	OMIM:617872
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Castleman Disease	Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, Hematuria, Abdominal mass, Ane...	ORPHA:160
Bleeding Disorder, Platelet-Type, 20	Epistaxis, Thrombocytopenia	OMIM:616913
Noonan Syndrome 12	Lymphopenia, Supravalvular aortic stenosis, Thrombocytopenia	OMIM:618624
Von Willebrand Disease, Type 2	Epistaxis, Thrombocytopenia	OMIM:613554
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Potocki-Lupski Syndrome	Hypocholesterolemia, Motor stereotypy, Hyperactivity, Oral-pharyngeal dysphagia	OMIM:610883
Atelis Syndrome 1	Anemia, Leukopenia, Attention deficit hyperactivity disorder, Thrombocytopenia	OMIM:620184
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp...	ORPHA:85450
Coproporphyria, Hereditary	Increased fecal coproporphyrin 3, Elevated urinary coproporphyrin level, Increased urinary porpho...	OMIM:121300
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Transient ische...	OMIM:274150
Free Sialic Acid Storage Disease	Failure to thrive in infancy, Ascites, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic syndrome	ORPHA:834
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia	OMIM:616730
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Weight loss, Lymphadenopathy, Arthritis, Hepatomegaly	ORPHA:42642
Holocarboxylase Synthetase Deficiency	Irritability, Hyperammonemia, Thrombocytopenia, Anorexia	ORPHA:79242
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Systemic Sclerosis	Chronic kidney disease, Intestinal bleeding, Telangiectasia, Glomerulonephritis, Abnormality of t...	ORPHA:90291
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Giant Cell Arteritis	Vasculitis, Hepatic failure, Epistaxis, Aortic dissection, Double outlet right ventricle with sub...	ORPHA:397
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade...	ORPHA:100026
Esophagitis, Eosinophilic, 2	Eosinophilia, Vomiting, Esophagitis, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Vomiting, Esophagitis, Dysphagia	OMIM:610247
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocyto...	OMIM:616084
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit...	OMIM:235700
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Splenomegaly, Eosinophilia, Hepatomegaly, Myeloproliferative disorder	OMIM:607685
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Renal ...	OMIM:242900
Moyamoya Disease 6 With Or Without Achalasia	Ischemic stroke, Hypertension, Raynaud phenomenon, Thrombocytopenia, Dysphagia	OMIM:615750
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia, Intestinal lymphangiectasia	OMIM:207731
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia, Irritability, Microvesicular hepatic steatosis, Hepatomegaly...	OMIM:613070
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Increased circulating IgE level, Psoriasiform dermatitis, Eosinophilic infiltration of the esopha...	OMIM:615508
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level	OMIM:203400
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R...	ORPHA:90038
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Oral leukoplak...	OMIM:619767
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenomegal...	OMIM:610199
Lecithin:Cholesterol Acyltransferase Deficiency	Proteinuria, Renal insufficiency, Hemolytic anemia, Normochromic anemia	OMIM:245900
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Hemochromatosis, Neonatal	Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Cirrhosis, Prolonged neo...	OMIM:231100
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Erythema Elevatum Diutinum	Skin rash, Vasculitis in the skin, Increased circulating antibody level	ORPHA:90000
Dpm1-Cdg	High, narrow palate, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, H...	ORPHA:79322
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Hirschsprung Disease, Susceptibility To, 1	Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio...	OMIM:142623
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Coach Syndrome 2	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Hyper...	OMIM:619111
Immunodeficiency 59 And Hypoglycemia	Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Recurrent sk...	OMIM:233600
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Recurrent skin inf...	ORPHA:169105
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin ras...	ORPHA:324964
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration	ORPHA:3240
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat...	ORPHA:79477
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:613944
Follicular Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphaden...	ORPHA:545
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia	OMIM:618093
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis, Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Pancytopenia, T...	OMIM:224230
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Xq28 (MECP2) duplication	Functional abnormality of the bladder, Decreased circulating IgA level, Gastroesophageal reflux, ...	DECIPHER:45
Congenital Rubella Syndrome	Type I diabetes mellitus, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice	ORPHA:290
Vexas Syndrome	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Arteritis, Macrocytic an...	OMIM:301054
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
S-Adenosylhomocysteine Hydrolase Deficiency	Hypoalbuminemia, Hypermethioninemia, Cardiomyopathy, Abnormal circulating homocysteine concentrat...	ORPHA:88618
Hemochromatosis, Type 1	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:235200
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St...	ORPHA:656
Renal Failure, Progressive, With Hypertension	Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria	OMIM:161900
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Pearson Marrow-Pancreas Syndrome	Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc...	OMIM:557000
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Laryngotracheoesophageal Cleft Type 4	Abnormal mesentery morphology, Abnormality of the spleen, Cachexia	ORPHA:93941
Hyperkalemic Periodic Paralysis	Congestive heart failure, Elevated circulating creatine kinase concentration, Hypokalemia, Hypona...	ORPHA:682
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Hypoalbuminemia, Increased serum bile acid concentration, Cirrhosis, Decreased circulating cerulo...	OMIM:242150
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hepatic steatosis, Cardiomegaly, C...	ORPHA:42
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Ascites, Increased urinary O-linked sialopeptid...	OMIM:256550
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Hypoglycemia, Cardiomyopathy, Hyperammonemia, Hepatic steato...	OMIM:212138
Sepsis In Premature Infants	Hypotension, Leukocytosis, Splenomegaly, Bradycardia, Hepatomegaly, Jaundice, Elevated circulatin...	ORPHA:90051
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Hematochezia, Intestinal bleeding, Gastrointestinal hemorrhage, Melena, Anemia, ...	ORPHA:79076
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Cholestasis, Hypertrophic cardiomyo...	OMIM:615382
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Japanese Encephalitis	Neutrophilia, Infectious encephalitis, Increased circulating IgM level, Increased circulating ant...	ORPHA:79139
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia	OMIM:256300
Thrombocytopenia 3	Decreased mean platelet volume, Epistaxis, Thrombocytopenia	OMIM:273900
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Weight loss, ...	ORPHA:54251
Radiation Proctitis	Hematochezia, Arteritis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ...	ORPHA:70475
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Type II diabete...	OMIM:618620
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Skin rash, Weight loss, Lymphadenopathy, Hepatomegaly	ORPHA:391
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Hypoglycemia, Hyperammonemia, Hepati...	OMIM:617093
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Dermatitis, Atopic	Dry skin, Facial erythema, Pallor	OMIM:603165
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hypertension, Hepatic steatosis, Polycystic ovaries	ORPHA:280356
X-Linked Immunoneurologic Disorder	Functional abnormality of the bladder, Decreased circulating IgG2 level	ORPHA:2571
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Renal tu...	ORPHA:79240
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Hyperactivity, Abnormal T cell morphology...	ORPHA:760
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Cholecystitis, Splenomegaly, No...	OMIM:613470
Senior-Loken Syndrome	Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease, Congenital hepatic fibr...	ORPHA:3156
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Moynahan Syndrome	Cachexia	ORPHA:2574
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Diarrhea, Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circula...	ORPHA:391487
Glycogen Storage Disease Ixb	Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Pyridoxal Phosphate-Responsive Seizures	Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulating threonine concent...	ORPHA:79096
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cachexia, Cirrhosis, Weight loss, Anemia, Macrovesicular hepatic steatosis	ORPHA:298
Pulmonary Blastoma	Recurrent pneumonia, Weight loss	ORPHA:64741
Aicardi-Goutieres Syndrome 5	Thrombocytopenia, Irritability	OMIM:612952
Pneumocystosis	Interstitial pneumonitis, Increased circulating antibody level, Acute infectious pneumonia, Abnor...	ORPHA:723
Adult-Onset Nemaline Myopathy	Paraproteinemia, High palate, Dilated cardiomyopathy, Neuromuscular dysphagia	ORPHA:171442
Immunodeficiency 31C	Protein-losing enteropathy, Eczematoid dermatitis, Decreased lymphocyte proliferation in response...	OMIM:614162
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Hepatomegaly, ...	OMIM:614376
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Thrombocytopenia,...	OMIM:603585
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Cherr...	ORPHA:333
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:618176
Rasmussen Subacute Encephalitis	Anti-dsDNA antibody positivity, Autoimmunity, Antinuclear antibody positivity, Decreased circulat...	ORPHA:1929
Specific Granule Deficiency 2	Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia	OMIM:617475
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra...	OMIM:616834
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Wilson Disease	Depression, Hepatitis, Acute hepatitis, Splenomegaly, Hepatic steatosis, Aggressive behavior, Hep...	ORPHA:905
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Gastroesophageal reflux, Oral leukoplakia, Decreased testicular ...	OMIM:620040
Nail-Patella-Like Renal Disease	Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria	ORPHA:2613
Linear Iga Dermatosis	Inflammation of the large intestine, Autoimmunity	ORPHA:46488
Galactosemia I	Aminoaciduria, Galactosuria, Failure to thrive, Reduced erythrocyte galactose-1-phosphate uridyly...	OMIM:230400
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Dysphagia, Mildly elevated creatine kinase, Bradycardia	OMIM:620265
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Hypocalcemia, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:259700
Acute Promyelocytic Leukemia	Epistaxis, Diffuse alveolar hemorrhage, Anorexia, Pancytopenia, Leukopenia, Leukocytosis, Addicti...	ORPHA:520
Autosomal Agammaglobulinemia	Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Sinusitis, Neutropenia, ...	ORPHA:33110
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper...	OMIM:600462
Thrombocytopenia 10	Decreased mean platelet volume, Thrombocytopenia, Spontaneous, recurrent epistaxis	OMIM:620484
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypoglycemia, Cholestasis, Ascites, Pancytopenia, Portal hypertension, Hypocalce...	OMIM:613658
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice, Reduced...	OMIM:224100
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Exercise-Induced Malignant Hyperthermia	Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Sinus tachycardia, Abnormal T-wave, Hypo...	ORPHA:466650
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Pulmonary embolism, Glycosuria, Budd-Chiari syndrome, P...	ORPHA:447
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Diarrhea, Panhypogammaglobulinemia, Recurrent otitis media, Pyo...	OMIM:307200
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch...	ORPHA:79301
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias	OMIM:619428
Hjv Or Hamp-Related Hemochromatosis	Dilated cardiomyopathy, Abnormality of endocrine pancreas physiology, Increased circulating ferri...	ORPHA:79230
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hypoglycemia, Congestive heart failure, Decreased plasma free carnitine, Hepatic steatosis, Left ...	OMIM:619048
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Anorexia, Anemia	OMIM:175500
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Low pulse pressure, Incre...	ORPHA:86816
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Ascites, Splenomegaly...	ORPHA:2905
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Attention deficit hyperactivity disorder, Hyperch...	OMIM:620211
Infantile Sialic Acid Storage Disease	Nephrotic syndrome, Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, ...	OMIM:269920
Sengers Syndrome	Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Thrombocytopenia, Cardiac arrest, S...	OMIM:212350
Behçet Disease	Mitral regurgitation, Endocarditis, Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage...	ORPHA:117
Buerger Disease	Vasculitis, Arterial occlusion, Raynaud phenomenon, Intermittent claudication	ORPHA:36258
Disabling Pansclerotic Morphea Of Childhood	Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia	OMIM:620443
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Portal Hypertension, Noncirrhotic, 2	Epistaxis, Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly,...	OMIM:619463
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Viss Syndrome	Iliac artery aneurysm, Aortic root aneurysm, Increased circulating IgE level, Tortuous cerebral a...	OMIM:619472
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomega...	OMIM:259720
Hypermanganesemia With Dystonia 1	Polycythemia, Increased total iron binding capacity, Cirrhosis, Hypermanganesemia, Hepatomegaly, ...	OMIM:613280
Idiopathic Aplastic Anemia	Epistaxis, Bone marrow hypocellularity, Pancytopenia, Retinal hemorrhage, Reticulocytopenia, Thro...	ORPHA:88
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia, Hypoglycemia	OMIM:240200
Hematuria, Benign Familial, 2	Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria	OMIM:620320
Smith-Kingsmore Syndrome	Decreased circulating IgA level, Cryptorchidism, Thrombocytopenia	OMIM:616638
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Hyperglycinemia, Hyperammonemia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemi...	OMIM:251100
Shigellosis	Hypovolemic shock, Hypoglycemia, Microangiopathic hemolytic anemia, Cholestasis, Leukocytosis, Ab...	ORPHA:810
Squalene Synthase Deficiency	Hypocholesterolemia, Irritability, Decreased LDL cholesterol concentration, Elevated circulating ...	OMIM:618156
Paternal Uniparental Disomy Of Chromosome 1	Obesity, Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Macros...	ORPHA:251004
Pediatric-Onset Graves Disease	Polydipsia, Sinus tachycardia, Congestive heart failure, Palpitations, Splenomegaly, Emotional la...	ORPHA:525731
Tubulointerstitial Nephritis And Uveitis Syndrome	Increased circulating antibody level, Scleritis, Weight loss, Tubulointerstitial nephritis, Amino...	ORPHA:91500
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Abnormality of tumor necrosis factor secretion, Shock, Ab...	ORPHA:178320
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Splenomegaly, Mitral regurgitation...	OMIM:230800
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Isovaleric Acidemia	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Cerebellar hemorrhage, Thrombocytopenia	OMIM:243500
Imerslund-Grasbeck Syndrome 1	Proteinuria, Microscopic hematuria, Megaloblastic anemia	OMIM:261100
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemia	OMIM:614736
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Villous atrophy, Increased intestinal transit tim...	OMIM:619377
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Neuroblastoma	Increased circulating ferritin concentration, Irritability, Abdominal mass, Lymphadenopathy, Thro...	ORPHA:635
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:618348
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Hyperbilirubinemia, Spleno...	OMIM:185000
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Anti-glomerular basement membrane-antibod...	OMIM:233450
Infection-Related Hemolytic Uremic Syndrome	Hypertensive crisis, Brain abscess, Hemolytic anemia, Leukocytosis, Hypocalcemia, Hyponatremia, H...	ORPHA:544482
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Infectiou...	ORPHA:549
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hepatitis, Jejunoileal ulceration, Intestinal malrotation, Autoimmunity, Psor...	ORPHA:436252
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Type I diabetes mellitus, Lymphopenia, Portal hypertension, Thrombocytopenia, Anemia	OMIM:620365
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hypotension, Hyperkalemia, Hyperaldosteronism	OMIM:264350
Peroxisome Biogenesis Disorder 3B	Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatomegaly	OMIM:266510
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci...	OMIM:210500
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Anemia, Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:1192
Autoimmune Hemolytic Anemia, Warm Type	Pallor, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice	ORPHA:90033
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit...	ORPHA:543
Classic Mycosis Fungoides	Eczematoid dermatitis, Abnormal lymphocyte morphology, Splenomegaly, Skin rash, Lymphadenopathy, ...	ORPHA:2584
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Erythrocytosis, Familial, 2	Hypotension, Increased hematocrit, Increased red blood cell mass, Increased circulating hemoglobi...	OMIM:263400
Drug-Induced Autoimmune Hemolytic Anemia	Pallor, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne...	OMIM:245480
Chédiak-Higashi Syndrome	Epistaxis, Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell m...	ORPHA:167
Cutaneous Small Vessel Vasculitis	Vasculitis, Recurrent skin infections, Skin rash	ORPHA:889
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Cystathioninemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Hepatomega...	OMIM:277380
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce...	OMIM:187950
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Alexander Disease Type I	Cachexia, Failure to thrive	ORPHA:363717
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Hypoalbuminemia	ORPHA:79396
Combined Oxidative Phosphorylation Deficiency 14	Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra...	OMIM:614946
Cholesteryl Ester Storage Disease	Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Jaundice	ORPHA:75234
Glycogen Storage Disease Iv	Cardiomyopathy, Ascites, Abnormal circulating creatine kinase concentration, Hepatosplenomegaly, ...	OMIM:232500
Nodular Non-Suppurative Panniculitis	Autoimmunity, Splenomegaly, Inflammatory abnormality of the eye, Weight loss, Hepatomegaly, Panni...	ORPHA:33577
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Arteriovenous malformation, Tetralogy of Fallot, Ascites, Leukopenia...	ORPHA:974
Hereditary Folate Malabsorption	Cheilitis, Gastroesophageal reflux, Recurrent urinary tract infections, Pancytopenia, Eosinophili...	ORPHA:90045
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Neonatal cholestatic liver disease, Cirrhosis, Hepatomegaly, Jaundi...	OMIM:214900
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Cachexia	ORPHA:2774
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Third degree atrioventricular block, Cholestasis, Lymphopenia, Decreased ...	OMIM:619573
Trichinellosis	Increased circulating IgE level, Central retinal artery occlusion, Skin rash, Retinal hemorrhage,...	ORPHA:863
Lysinuric Protein Intolerance	Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent...	OMIM:222700
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Oliguria, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, L...	ORPHA:514
Acquired Methemoglobinemia	Palpitations, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia	ORPHA:464453
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Cachexia, Methylmalonic aciduria	ORPHA:1933
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly, Aminoaciduria	ORPHA:417
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema...	OMIM:613237
Celiac Disease, Susceptibility To, 1	Elevated circulating hepatic transaminase concentration, Eczematoid dermatitis, Decreased circula...	OMIM:212750
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Atrial flutter, Paraproteinemia, Hypertrophic cardiomy...	ORPHA:439232
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Increased circulating ferritin concentration, Congestive heart failure, Hyperglyc...	ORPHA:465508
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Elevated circulating hepatic transaminase concentration, Gastroesophageal r...	OMIM:619525
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio...	ORPHA:1454
Mcdonough Syndrome	Cachexia	ORPHA:2471
Microsporidiosis	Lymphadenitis, Urethritis, Abnormality of the spleen, Abnormality of the urinary system physiolog...	ORPHA:2552
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Wolman Disease	Hepatomegaly, Splenomegaly, Failure to thrive	OMIM:620151
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency	OMIM:607832
Hereditary Orotic Aciduria	Aminoaciduria, Impaired T cell function, Oroticaciduria, Abnormality of the ureter, Splenomegaly,...	ORPHA:30
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hyp...	OMIM:200995
Congenital Disorder Of Glycosylation, Type Iib	Elevated circulating aspartate aminotransferase concentration, Decreased circulating IgA level, H...	OMIM:606056
Leukocyte Adhesion Deficiency, Type Iii	Epistaxis, Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphol...	OMIM:612840
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Intracrani...	ORPHA:85212
Laurence-Moon Syndrome	Renal insufficiency, Cryptorchidism, Congenital hepatic fibrosis, Displacement of the urethral me...	ORPHA:2377
Gracile Syndrome	Cholestasis, Increased circulating iron concentration, Increased serum pyruvate, Increased circul...	OMIM:603358
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia	OMIM:231095
Laryngeal Neuroendocrine Tumor	Weight loss, Chronic noninfectious lymphadenopathy	ORPHA:100083
Bloom Syndrome	Decreased circulating IgG level, Facial telangiectasia in butterfly midface distribution, Leukemi...	OMIM:210900
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Whim Syndrome	Pneumonia, Recurrent pneumonia, Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphop...	ORPHA:51636
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp...	OMIM:619743
Mitochondrial Complex I Deficiency, Nuclear Type 13	Decreased circulating carnitine concentration, Hypertrophic cardiomyopathy, Irritability, Bradyca...	OMIM:618235
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Eczemato...	ORPHA:83471
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Intraventricul...	OMIM:619055
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Colchicine Poisoning	Hypotension, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Leukocytosis, Hypocalce...	ORPHA:31824
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Abnormality of the lymphatic system, Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Extracranial Carotid Artery Aneurysm	Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Autoimmunity, Ce...	ORPHA:494424
Pseudohypoaldosteronism Type 2	Hyperkalemia, Hypertension	ORPHA:757
Dermatomyositis	Abnormal eosinophil morphology, Anti-transcription intermediary factor-1gamma antibody positivity...	ORPHA:221
Cogan Syndrome	Aortic regurgitation, Vasculitis, Keratitis, Large vessel vasculitis, Leukocytosis, Episcleritis,...	ORPHA:1467
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:161950
Shwachman-Diamond Syndrome	Aplastic anemia, Pancytopenia, Increased serum bile acid concentration, Impaired neutrophil chemo...	ORPHA:811
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom...	OMIM:607361
Renpenning Syndrome	Cachexia, Hypospadias	ORPHA:3242
Alg8-Cdg	Anemia, Ascites, Hyponatremia, Thrombocytopenia	ORPHA:79325
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperalaninemia, Macrovesicular hepat...	OMIM:618329
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Hepatic cysts, Eosinophilia, Erythroderma, Anal atresia, Decreased circulating antib...	OMIM:617425
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hematochezia, Hypomagnesemia, Ascites, Hypocalcemia, Hyponatremia, Hypertriglyce...	OMIM:618183
D-Bifunctional Protein Deficiency	Fetal ascites, Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatic stea...	OMIM:261515
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Hematuria, Proteinuria, Anemia,...	ORPHA:77261
Aceruloplasminemia	Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer...	ORPHA:48818
Bleeding Disorder, Platelet-Type, 17	Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Absence of alpha granul...	OMIM:187900
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Gastroesophageal reflux, Periodontitis, Enlarged platelet dens...	OMIM:608233
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Tyrosinemia Type 1	Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc...	ORPHA:882
Essential Thrombocythemia	Acute leukemia, Abnormal cerebral vascular morphology, Transient ischemic attack, Leukocytosis, S...	ORPHA:3318
Vici Syndrome	Decreased circulating IgG level, Cutaneous anergy, Dilated cardiomyopathy, Chronic mucocutaneous ...	OMIM:242840
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia	ORPHA:276575
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis, Autoimmunity	ORPHA:98827
Christianson Syndrome	Cachexia	ORPHA:85278
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ...	ORPHA:48377
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Optic Atrophy 1	Pallor	OMIM:165500
Icf Syndrome	Lymphopenia, Protruding tongue, Anemia, Macroglossia, Abnormality of neutrophils, Decreased circu...	ORPHA:2268
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Maturity-onset diabetes of the young,...	OMIM:609812
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hypoglycemia, Congestive heart failure, Cholestasis, Ascites...	OMIM:617156
Beta-Ketothiolase Deficiency	Hypotension, Hypoglycemia, Anorexia, Hyperglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, ...	ORPHA:134
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Gastr...	ORPHA:79329
Genetic Recurrent Myoglobinuria	Hyperphosphatemia, Hypocalcemia, Arrhythmia, Hyperkalemia, Highly elevated creatine kinase	ORPHA:99845
Mody	Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Pancreatic hypo...	ORPHA:552
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis, Abnormality of the urinary system	OMIM:213010
Epidermolysis Bullosa Acquisita	Abdominal pain, Inflammation of the large intestine	ORPHA:46487
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor	ORPHA:276556
Irida Syndrome	Intrahepatic cholestasis, Pallor	ORPHA:209981
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Splenomegaly, Hypoglycemia	ORPHA:664
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan...	OMIM:603471
Galactokinase Deficiency	Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Hypercholesterolemia, Increased level of gala...	ORPHA:79237
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Dysphagia, Hypoplas...	ORPHA:699
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis...	OMIM:615438
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Failure to thrive, Enterocolitis...	OMIM:301108
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Senior-Loken Syndrome 9	Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Tubulointerstiti...	OMIM:616629
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Pseudohypoaldosteronism, Type Iia	Hyperkalemia, Hypertension	OMIM:145260
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Localized Scleroderma	Vasculitis, Gastroesophageal reflux, Fasciitis, Autoimmunity, Esophagitis, Hashimoto thyroiditis,...	ORPHA:90289
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Hyperglycemia, Hyperglycinemia, Agitation, Irritability, Impulsivity, Hyperactivity...	OMIM:620423
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Spontaneous, recurrent epi...	OMIM:214500
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Epistaxis, Acanthocytosis, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc...	OMIM:300367
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of...	ORPHA:1046
Wolfram Syndrome 1	Cardiomyopathy, Sideroblastic anemia, Megaloblastic anemia, Dysphagia, Thrombocytopenia, Diabetes...	OMIM:222300
Familial Glucocorticoid Deficiency	Hypotension, Hypertrophic cardiomyopathy, Hyponatremia, Decreased circulating cortisol level, Ket...	ORPHA:361
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Cardiomyopathy, Aggressive behavior, Thrombocytopenia, Severe temper tantrums	OMIM:617710
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Rheumatoid arthritis, Failure to thrive, Increase...	ORPHA:85410
Cranioectodermal Dysplasia 2	Recurrent pneumonia, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Bi...	OMIM:613610
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Enuresis nocturna, Recurrent pneumonia, Decreased cir...	ORPHA:420741
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabsces...	ORPHA:411696
Riboflavin Transporter Deficiency	Cachexia	ORPHA:97229
Joubert Syndrome 9	Hepatic fibrosis, Stage 5 chronic kidney disease	OMIM:612285
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Abnormality of T cel...	OMIM:181000
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor, Pancreatic islet-cell hyperplasia	ORPHA:276608
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypertrophic cardiomyopathy, Hypocholesterolemia, Hepatomegaly	OMIM:618810
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia, Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:2668
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney dis...	OMIM:614377
Iron Overload, Susceptibility To	Increased circulating ferritin concentration, Type II diabetes mellitus, Elevated hepatic iron co...	OMIM:620121
Alpha-1-Antitrypsin Deficiency	Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis, Gastric varix, ...	OMIM:613490
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Gaucher Disease Type 2	Hepatomegaly, Cardiac arrest, Dysphagia, Splenomegaly	ORPHA:77260
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233710
Vasculitis, Lymphocytic, Nodular	Nodular inflammatory vasculitis	OMIM:192310
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, E...	OMIM:611881
Lujo Hemorrhagic Fever	Hypotension, Shock, Lymphopenia, Leukopenia, Leukocytosis, Myocarditis, Thrombocytopenia, Bradyca...	ORPHA:319213
Nephronophthisis 2	Elevated circulating creatinine concentration, Pulmonary insufficiency, Hyperkalemia, Hypertensio...	OMIM:602088
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Reduced HMG-CoA lyase activity in cultured fibroblasts, Elevated circulating aspartate aminotrans...	OMIM:246450
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Gastroesophageal reflux, Hepatocellular necrosis, Hypertrophic cardiomyopath...	OMIM:201475
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Second degree atrioventricular block, Hypomagne...	ORPHA:79102
Idiopathic Bronchiectasis	Acute infectious pneumonia, Cachexia, Bronchiectasis	ORPHA:60033
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor	ORPHA:276580
Systemic-Onset Juvenile Idiopathic Arthritis	Autoimmunity, Splenomegaly, Skin rash, Lymphadenopathy, Arthritis, Hepatomegaly, Juvenile rheumat...	ORPHA:85414
Mannosidosis, Alpha B, Lysosomal	Macroglossia, Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Decreased circulating antibody ...	OMIM:248500
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate aminotransferase concen...	OMIM:257200
Gray Platelet Syndrome	Epistaxis, Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Spl...	OMIM:139090
Arima Syndrome	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steatosis, Renal sodi...	OMIM:243910
Congenital Heart Block	Intrauterine growth retardation, Pallor, Patent ductus arteriosus	ORPHA:60041
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Hepatomegaly, Acute...	OMIM:260400
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Holocarboxylase Synthetase Deficiency	Hyperammonemia, Thrombocytopenia, Irritability	OMIM:253270
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233690
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:172
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Bone Marrow Failure Syndrome 5	Oral leukoplakia, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Decreased circulating anti...	OMIM:618165
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperpl...	OMIM:620454
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth...	ORPHA:101016
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Failure to thrive, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Prote...	ORPHA:436271
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Polycythemia, Micronodular cirrhosis, Increased to...	ORPHA:309854
Primary Triglyceride Deposit Cardiomyovasculopathy	Cardiomyopathy, Palpitations, Hyperlipidemia, Splenomegaly, Elevated circulating creatine kinase ...	ORPHA:565612
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur...	OMIM:620536
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatic fibrosis, Macroglossia, Bifid uvula, Nephronophthisis, Acute kidney injury, Cholestasis, ...	OMIM:266920
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Abnormal erythrocyte morphology, Con...	ORPHA:288
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hypotension, Hyperkalemia, Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglyce...	ORPHA:90791
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, As...	ORPHA:567546
Mitochondrial Complex I Deficiency, Nuclear Type 20	Dilated cardiomyopathy, Hypoglycemia, Congestive heart failure, Hypertrophic cardiomyopathy, Micr...	OMIM:611126
Orthostatic Hypotension 2	Anemia, Orthostatic hypotension, Hypoglycemia	OMIM:618182
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Aminoaciduria, Nephrocalcinosis, Fa...	OMIM:613404
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Orthostatic syncope, Hypoglycemia, Abnormal EKG, Elevated circulating creatin...	ORPHA:230
Ring Chromosome 10 Syndrome	Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality of the spleen, Hepatospleno...	ORPHA:2072
Moyamoya Disease 1	Telangiectasia, Carotid artery occlusion, Inflammatory arteriopathy	OMIM:252350
Interstitial Lung And Liver Disease	Aminoaciduria, Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate ami...	OMIM:615486
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Renal insufficiency, Skin rash, Interstitial pneumonitis, Infectious encephalitis, Pus...	ORPHA:139402
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Hypoplasia of the bladder, Renal agen...	OMIM:249000
Isolated Congenital Hypoglossia/Aglossia	Weight loss, Aspiration pneumonia	ORPHA:141152
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Antineutrophil antibody positivity, Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Hypersp...	ORPHA:228426
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Congestive heart failure, Tricuspid regurgitation, Lymphopenia, Leuk...	ORPHA:508542
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Vasculitis, Skin rash	OMIM:601979
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, Hepatomegaly, A...	OMIM:301056
Immunodeficiency 56	Hepatic failure, Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent...	OMIM:615207
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:614520
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Type I diabetes mellitus, Hypotension, Hepatitis, Hypoglycemia, Macrocytic ane...	ORPHA:199299
Copper Deficiency, Familial Benign	Anemia, Decreased circulating copper concentration	OMIM:121270
Lathosterolosis	Hepatic fibrosis, Intrahepatic cholestasis, Horseshoe kidney, Elevated circulating aspartate amin...	OMIM:607330
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Familial Hypoaldosteronism	Hypotension, Increased circulating renin level, Hyponatremia, Orthostatic hypotension, Hyperkalem...	ORPHA:427
Nephronophthisis 11	Hepatic fibrosis, Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kid...	OMIM:613550
Secondary Short Bowel Syndrome	Diarrhea, Vomiting, Volvulus, Malnutrition, Villous atrophy, Malabsorption, Abnormal small intest...	ORPHA:95427
Idiopathic Achalasia	Recurrent aspiration pneumonia, Weight loss	ORPHA:930
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:614455
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Petechiae, Splenomegaly, Hepatomegaly, Anemia, Purpura	OMIM:620296
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Hypertension, Decreased circulating renin level	OMIM:614492
Cednik Syndrome	Proteinuria, Nephrotic syndrome	ORPHA:66631
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Recurrent aphthous stomatitis, T lymphocytopenia, Abnormal natural killer cell morphology, B lymp...	OMIM:615966
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Decreased circulating apolipoprote...	OMIM:207750
Plummer-Vinson Syndrome	Iron deficiency anemia, Pallor, Hypochromic microcytic anemia	ORPHA:54028
American Trypanosomiasis	Cardiomyopathy, Congestive heart failure, Splenomegaly, Skin rash, Infectious encephalitis, Agang...	ORPHA:3386
Immune Thrombocytopenia	Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Thrombocytopenia, Cerebral hemorrhage	ORPHA:3002
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent pneumonia, Recurrent otitis media, Abnormal lymphocyte morphology, Decreased circulatin...	ORPHA:293978
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level, Patent ductus arteriosus	ORPHA:99811
Epilepsy-Telangiectasia Syndrome	Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Roifman Syndrome	Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Splenomegaly, Noncompaction c...	OMIM:616651
Osteopetrosis, Autosomal Recessive 2	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia	OMIM:259710
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Cystathioninemia, Bradycardia, Hypomethioninemia, Pulmonary arterial hypertension, M...	OMIM:277400
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Malignant Hyperthermia Of Anesthesia	Hyperphosphatemia, Supraventricular tachycardia, High-output congestive heart failure, Premature ...	ORPHA:423
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of ...	OMIM:612714
Scleromyxedema	Abnormal pulmonary artery morphology, Gastroesophageal reflux, Abnormal coronary artery morpholog...	ORPHA:167635
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Cryptorchi...	OMIM:607143
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Hypertrophic cardiomyopathy, Ascites, Hyperammonemia, Cardiomegaly, Hyperalaninemia...	OMIM:614702
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa...	OMIM:609981
Familial Partial Lipodystrophy, Dunnigan Type	Abnormality of complement system, Atherosclerosis, Hypertrophic cardiomyopathy, Congestive heart ...	ORPHA:2348
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch...	OMIM:617731
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Tako-Tsubo Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ...	ORPHA:66529
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Vomiting, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding difficulties	OMIM:616809
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Failure to thrive, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Prote...	OMIM:220110
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Intestinal lymphangiectasia, Thyroid lymphangiectasia, Hyperactivity, Pulmonary ...	OMIM:235510
Propionic Acidemia	Cardiomyopathy, Hypoglycemia, Hyperammonemia, Arrhythmia, Hepatomegaly	ORPHA:35
Hennekam Syndrome	Arteriovenous malformation, Erysipelas, Ascites, Lymphopenia, Horseshoe kidney, Decreased circula...	ORPHA:2136
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Enthesitis, Hepatosplenomegaly, Knee osteoarthritis, Antinuclear antibody pos...	ORPHA:85408
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Intrahepatic biliary atresia, Hepatic melanin-li...	OMIM:208085
Neuropathy, Congenital Hypomyelinating, 3	Cachexia, Neonatal death	OMIM:618186
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypospadias, Decreased circulating IgA level, Intestinal polyp, Cryptorchidism	ORPHA:457485
Timothy Syndrome	Atrioventricular block, Hypoglycemia, Hypocalcemia, Cardiomegaly, Pulmonary arterial hypertension...	OMIM:601005
Birk-Landau-Perez Syndrome	Increased circulating creatine kinase MB isoform, Hyperkalemia, Hypertension	OMIM:617595
Rheumatoid Arthritis	Anti-citrullinated protein antibody positivity, Rheumatoid arthritis, Vasculitis, Rheumatoid fact...	OMIM:180300
Gitelman Syndrome	Type II diabetes mellitus, Ventricular fibrillation, Prolonged PR interval, Polydipsia, Glucose i...	ORPHA:358
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Mitral regurgitation, Macrocytic anemia, Persistence of hemogl...	OMIM:612561
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Elevated hemoglobin A1c, Diabetes mellitus	OMIM:619278
Blau Syndrome	Nephropathy, Xerostomia, Synovitis, Iridocyclitis, Erythema nodosum, Abnormality of the liver, Cl...	ORPHA:90340
Neuroblastoma, Susceptibility To, 1	Elevated urinary dopamine level, Elevated urinary homovanillic acid, Failure to thrive, Elevated ...	OMIM:256700
Mixed-Type Autoimmune Hemolytic Anemia	Pallor, Autoimmune hemolytic anemia	ORPHA:90036
Pseudomyxoma Peritonei	Inflammation of the large intestine, Ascites, Weight loss, Lymphadenopathy, Abnormal peritoneum m...	ORPHA:26790
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Mixed Connective Tissue Disease	Nephropathy, Mediastinal lymphadenopathy, Gastrointestinal hemorrhage, Xerostomia, Gastroesophage...	ORPHA:809
Von Willebrand Disease	Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Microcytic anemia, Muscle he...	ORPHA:903
Zygomycosis	Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis...	ORPHA:73263
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Self-injurious behavior, Recurrent hand flapping, Persistence of hemoglobin F	OMIM:617101
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Pallor, Pancreatic islet-cell hyperplasi...	ORPHA:263455
Phoar2-Enteropathy Syndrome	Hypoalbuminemia	OMIM:614441
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Granuloma, Eczematoid dermatitis, Ascites...	OMIM:306400
Vici Syndrome	Decreased circulating IgG level, Cardiomyopathy, Renal tubular acidosis, Decreased circulating Ig...	ORPHA:1493
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Motor stereotypy, High nonceruloplasmin-bound serum copper, Thrombocytop...	ORPHA:457351
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, Arthritis, Anemia, Uv...	OMIM:607115
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Facial telangiectasia in butterfly midface distribution, Renal insufficie...	OMIM:137940
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Dubowitz Syndrome	Hypocholesterolemia, Acute lymphoblastic leukemia, Aplastic anemia, Hyperactivity	OMIM:223370
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Depression, Abnormal circulating lipid concentration, Decreased HDL cholesterol c...	ORPHA:77293
Kaposiform Lymphangiomatosis	Epistaxis, Pancreatic cysts, Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the l...	ORPHA:464329
Coenzyme Q10 Deficiency, Primary, 6	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:614650
Farber Lipogranulomatosis	Cherry red spot of the macula, Splenomegaly, Lipogranulomatosis, Arthritis, Hepatomegaly	OMIM:228000
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Portal Hypertension, Noncirrhotic, 1	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Hepat...	OMIM:617068
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Budd-Chiari synd...	OMIM:127550
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Bronchiectasis, Failure to thrive, Eczematoid dermatitis, Autoimmunity, Ski...	ORPHA:79128
Cinca Syndrome	Leukocytosis, Splenomegaly, Inflammatory abnormality of the eye, Anemia, Lymphadenopathy, Hepatom...	ORPHA:1451
Joubert Syndrome 6	Hepatic fibrosis, Stage 5 chronic kidney disease, Bile duct proliferation, Nephronophthisis	OMIM:610688
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Autoimmunity, Skin ...	ORPHA:93672
Acute Radiation Syndrome	Hypotension, Lymphopenia, Telangiectasia, Thrombocytopenia, Granulocytopenia	ORPHA:454831
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Catastrophic Antiphospholipid Syndrome	Pulmonary embolism, Arterial occlusion, Microangiopathic hemolytic anemia, Transient ischemic att...	ORPHA:464343
Livedoid Vasculopathy	Polycythemia, Abnormal circulating lipid concentration, Pancytopenia, Ischemic stroke, Leukocytos...	ORPHA:542643
Meckel Syndrome, Type 6	Hepatic fibrosis, Aplasia of the bladder, Horseshoe kidney, Absent gallbladder, Hepatic cysts, Re...	OMIM:612284
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insu...	OMIM:604387
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dilatation of the renal pelvis, Cholestasis, Dark urine, Congenital hepatic fibrosis, Cirrhosis, ...	OMIM:619534
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Hypocalcemia, Euphoria, Prolonged QT interval, Addi...	ORPHA:31826
Pleural Mesothelioma	Hepatomegaly, Weight loss, Lymphadenopathy	ORPHA:50251
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hepatic fibrosis, Hypospadias, Renal hypoplasia, Short uvula, Ascites, Renal cyst, High palate, P...	OMIM:614091
Short-Rib Thoracic Dysplasia 12	Periportal fibrosis, Renal hypoplasia, Hamartoma of tongue, Intestinal malrotation, Ascites, Medi...	OMIM:269860
Immunodeficiency 42	Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal...	OMIM:616622
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He...	OMIM:614817
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain	OMIM:191390
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Polyendocrine-Polyneuropathy Syndrome	Elevated hemoglobin A1c, Type I diabetes mellitus, Hypoglycemia	OMIM:616113
Formiminoglutamic Aciduria	Anemia, Abnormal circulating enzyme concentration or activity, Megaloblastic anemia	ORPHA:51208
Platelet Disorder, Undefined	Thrombocytopenia, Impaired platelet aggregation	OMIM:173420
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Macroglossia, Oligosacchariduria, Dilatation of the cerebral artery, Hypertrophic car...	ORPHA:365
Quebec Platelet Disorder	Epistaxis, Joint hemorrhage, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Liddle Syndrome	Hypokalemia, Arrhythmia, Cerebral ischemia, Hypertension	ORPHA:526
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Nephritis, Renal insufficiency, Proteinuria, Renal cyst...	OMIM:208500
Lipoyltransferase 1 Deficiency	Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia, Pulmonary arterial hypertension, B...	OMIM:616299
Cowden Syndrome 1	Colonic diverticula, Goiter, Lymphopenia, Furrowed tongue, Ovarian cyst, Ovarian carcinoma, High ...	OMIM:158350
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Hemo...	OMIM:300653
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Eczematoid dermatitis, Panniculitis, Transient hypogammaglobulin...	ORPHA:3132
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ...	ORPHA:650
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Hypocholesterolemia, Spl...	OMIM:270400
Meckel Syndrome, Type 2	Intestinal malrotation, Renal cyst, Bile duct proliferation, Cleft palate	OMIM:603194
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Abnormal biliary tract morphology, Abnormal...	ORPHA:3032
Tetrasomy 12P	Cachexia	ORPHA:884
3-Hydroxy-3-Methylglutaric Aciduria	Elevated circulating hepatic transaminase concentration, Leukopenia, Leukocytosis, Pallor, Lipid ...	ORPHA:20
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card...	ORPHA:464321
Xfe Progeroid Syndrome	Hypoalbuminemia, Hypertension, Ascites	OMIM:610965
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Shwachman-Diamond Syndrome 2	Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Thrombocytopenia, ...	OMIM:617941
Paroxysmal Cold Hemoglobinuria	Hemoglobinuria, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Abnormal urinary c...	ORPHA:90035
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ...	ORPHA:1344
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614495
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Abnormal circulating interleukin concentration, Lymphadenitis, Salmonella osteomyeliti...	ORPHA:319552
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
Reynolds Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir...	OMIM:613471
Cholestasis, Progressive Familial Intrahepatic, 1	Epistaxis, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundi...	OMIM:211600
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Skin rash, Generalized lymphadenopathy, Weig...	ORPHA:33276
Donohue Syndrome	Hepatic fibrosis, Long penis, Cholestasis, Ovarian cyst, Pancreatic islet-cell hyperplasia	OMIM:246200
Pseudo-Torch Syndrome 2	Ascites, Bradycardia, Thrombocytopenia, Cerebral hemorrhage, Hepatomegaly	OMIM:617397
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Pancytopenia, Proteinuria, Glomerular sclerosis, Recurrent my...	OMIM:607426
Vipoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Increased circulating cortisol level, Asci...	ORPHA:97282
Bullous Pemphigoid	Eczematoid dermatitis, Anti-BP180 antibody positivity, Autoimmunity, Psoriasiform dermatitis, Wei...	ORPHA:703
Imerslund-Grasbeck Syndrome 2	Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Megal...	OMIM:618882
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly	ORPHA:33402
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Agammaglobulinemia, Aganglionic megacolon, Anemia, Abnormality of the pancreas	ORPHA:935
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil...	OMIM:232220
Hoyeraal-Hreidarsson Syndrome	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Abnormal leukocyte morphology	ORPHA:3322
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Cachexia, Abnormality of the urinary system	ORPHA:702
Alopecia Totalis	Inflammation of the large intestine, Autoimmunity	ORPHA:700
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Neutrophilia	OMIM:266265
Von Willebrand Disease, Type 3	Epistaxis, Joint hemorrhage, Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Enterocolitis	OMIM:620425
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Weight loss, Abnormal proportion of CD4-positive T cells, Lymphocyti...	ORPHA:133
Hurler-Scheie Syndrome	Cardiomyopathy, Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Rhinitis	ORPHA:93476
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia, Hypertension	OMIM:614496
Fish-Eye Disease	Splenomegaly, Angina pectoris, Lymphadenopathy, Decreased HDL cholesterol concentration, Hepatome...	ORPHA:79292
Trichohepatoenteric Syndrome 2	Diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chronic diarrhea, Bloody diarrhea	OMIM:614602
Aa Amyloidosis	Chronic kidney disease, Nephropathy, Acute kidney injury, Renal amyloidosis, Cholestasis, Protein...	ORPHA:85445
Cocaine Intoxication	Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia, Intestinal perforation,...	ORPHA:90068
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l...	OMIM:601494
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Failure to thrive, Renal insufficiency, Hypochromic microcytic anemia, Anemia, Small for gestatio...	OMIM:619147
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Chronic hepatitis, Neutrophilia, Myeloproliferative disorder, Dysphagia, Port...	ORPHA:3260
Hyperparathyroidism, Neonatal Severe	Polydipsia, Splenomegaly, Hepatomegaly, Hypophosphatemia, Calcinosis, Anemia, Hypercalcemia	OMIM:239200
Nephroblastoma	Nephroblastoma, Hematuria, Neoplasm of the liver, Weight loss, Lymphadenopathy	ORPHA:654
Cyclic Vomiting Syndrome	Pallor	OMIM:500007
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Senior-Loken Syndrome 8	Intrahepatic bile duct dilatation, Pancreatic cysts, Pallor, Hepatic cysts	OMIM:616307
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia	OMIM:613987
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Symmetric polyarthritis, Synovitis, Arthritis, Rh...	ORPHA:85435
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Decreased testicular size, Splenomegaly, Impaired T cell function	OMIM:201100
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, HbH hemoglobin	ORPHA:98791
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Dyskeratosis Congenita, Autosomal Dominant 3	Bone marrow hypocellularity, Gastrointestinal hemorrhage, Aplastic anemia, Pancytopenia, Leukopen...	OMIM:613990
Nijmegen Breakage Syndrome	Anal stenosis, Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, R...	OMIM:251260
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Lig4 Syndrome	Pancytopenia, Type II diabetes mellitus, Telangiectasia, Thrombocytopenia, Acute lymphoblastic le...	OMIM:606593
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Elevated circulating palmitoleylcarnitine concentration, Pulmonary emboli...	ORPHA:79282
Congenital Pulmonary Lymphangiectasia	Gastroesophageal reflux, Congestive heart failure, Tricuspid regurgitation, Ascites, Splenomegaly...	ORPHA:2414
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia, Irritability, Aggressive behavior, Hyperactivity, Motor stereotypy	ORPHA:391307
Methanol Poisoning	Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor...	ORPHA:31825
Encephalitis Lethargica	Urinary incontinence, Autoimmunity, Bradycardia, Increased circulating antibody level	ORPHA:83600
Porphyria, Congenital Erythropoietic	Cholelithiasis, Elevated circulating uroporphyrin concentration, Splenomegaly, Hepatomegaly, Thro...	OMIM:263700
3-Methylglutaconic Aciduria, Type Viib	Congestive heart failure, Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia, Neonatal ...	OMIM:616271
Retinitis Pigmentosa 51	Pallor	OMIM:613464
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hypotension, Abnormal circulating cholesterol concentration, Hyponatremia, Decreased circulating ...	ORPHA:168558
Undifferentiated Pleomorphic Sarcoma	Weight loss, Abnormal peritoneum morphology	ORPHA:2023
Nijmegen Breakage Syndrome	Acute leukemia, Recurrent pneumonia, Autoimmune hemolytic anemia, Cachexia, Thrombocytopenia, Hem...	ORPHA:647
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:131
Myotonic Dystrophy 2	Decreased circulating IgG level, Palpitations, Premature ventricular contraction, Elevated circul...	OMIM:602668
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hypotension, Abnormal circulating cholesterol concentration, Hyponatremia, Decreased circulating ...	ORPHA:289548
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hypoglycemia, Hyponatremia, Decreased circulating cortisol level, Jaundice, Hyperkalemia	ORPHA:90790
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatin...	ORPHA:2785
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Hypertension	OMIM:617729
19Q13.11 Microdeletion Syndrome	Cachexia, Hypospadias, Failure to thrive	ORPHA:217346
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul...	OMIM:241150
Alport Syndrome	Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m...	ORPHA:63
Meckel Syndrome, Type 5	Renal cyst, Bile duct proliferation, Cleft palate	OMIM:611561
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis	OMIM:619183
Camurati-Engelmann Disease	Urinary retention, Slender build, Leukopenia, Splenomegaly, Hepatomegaly, Cachexia, Anemia	ORPHA:1328
Chronic Granulomatous Disease	Pyloric stenosis, Eczematoid dermatitis, Splenomegaly, Otitis media, Inflammatory abnormality of ...	ORPHA:379
Tyrosinemia, Type I	Hypermethioninemia, Gastrointestinal hemorrhage, Hypoglycemia, Hypertrophic cardiomyopathy, Ascit...	OMIM:276700
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Decreased circula...	ORPHA:231625
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Epistaxis, Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Impaired ara...	OMIM:601399
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Polycystic kidney dysplasia	OMIM:263210
Interstitial Cystitis	Functional abnormality of the bladder, Abnormality of the urethra, Abnormality of tumor necrosis ...	ORPHA:37202
Sheehan Syndrome	Hypoglycemia, Palpitations, Hyponatremia, Decreased circulating cortisol level, Orthostatic hypot...	ORPHA:91355
Bile Acid Malabsorption, Primary, 2	Periportal fibrosis, Elevated circulating aspartate aminotransferase concentration, Elevated circ...	OMIM:619481
Typhoid	Epistaxis, Gastrointestinal hemorrhage, Splenomegaly, Skin rash, Infectious encephalitis, Arrhyth...	ORPHA:99745
Familial Hyperaldosteronism Type Iii	Epistaxis, Polydipsia, Hypokalemia, Left ventricular hypertrophy, Prolonged QT interval, Intracra...	ORPHA:251274
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decreased hemoglobin conce...	ORPHA:713
Ivic Syndrome	Arrhythmia, Leukocytosis, Thrombocytopenia	ORPHA:2307
Silver-Russell Syndrome	Abnormality of the urinary system, Failure to thrive in infancy, Obesity, Cachexia, Hypospadias	ORPHA:813
Attrv30M Amyloidosis	Cardiomegaly, Nephropathy, Weight loss, Abnormal renal physiology	ORPHA:85447
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet aggregation, Thrombocyto...	OMIM:614074
Blue Rubber Bleb Nevus	Intestinal bleeding, Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia	OMIM:112200
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Hypoglycemia, Exocrine pancreatic insuf...	OMIM:619418
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Weight loss, Panniculitis, Hemophagocytosis	ORPHA:86884
Actinic Prurigo	Pyoderma, Cheilitis, Glomerulonephritis	OMIM:174770
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fraction, Hypocalcemia,...	OMIM:620152
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, CNS foam cells, Fatal liver failure in infan...	OMIM:257220
Acquired Generalized Lipodystrophy	Abnormality of complement system, Autoimmunity, Hepatic steatosis, Proteinuria, Cirrhosis, Hepato...	ORPHA:79086
Polycythemia Vera	Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycythemia, Budd-Ch...	ORPHA:729
Cystinosis	Nephropathy, Aminoaciduria, Failure to thrive, Renal insufficiency, Portal hypertension, Renal tu...	ORPHA:213
Meckel Syndrome, Type 4	Renal cyst, Bile duct proliferation, Cleft palate	OMIM:611134
Pseudo-Torch Syndrome 1	Hepatomegaly, Jaundice, Splenomegaly, Thrombocytopenia	OMIM:251290
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol...	ORPHA:2330
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Annular pancreas, Eczematoid dermatitis, Decreased circulating total IgM, High...	OMIM:618162
Glycogen Storage Disease Vii	Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Exercise-induced myoglo...	OMIM:232800
Dent Disease	Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri...	ORPHA:1652
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Bradycardia	ORPHA:95717
East Syndrome	Polydipsia, Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Salt craving, Increased circulating ...	ORPHA:199343
Gaucher Disease, Type Ii	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Dysphagia	OMIM:230900
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Multicentric Carpotarsal Osteolysis Syndrome	Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:166300
Leptospirosis	Hypotension, Hepatitis, Pulmonary hemorrhage, Hepatomegaly, Arrhythmia, Jaundice, First degree at...	ORPHA:509
Diffuse Cutaneous Mastocytosis	Hypotension, Gastrointestinal hemorrhage, Abnormality of the spleen, Abnormality of the liver, Ly...	ORPHA:79456
Monosomy 18Q	Aortic valve stenosis, Secondary growth hormone deficiency, Congestive heart failure, Bilateral c...	ORPHA:1600
Bardet-Biedl Syndrome 1	High, narrow palate, Hepatic fibrosis, Abnormality of the ovary, Decreased testicular size, Bilia...	OMIM:209900
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Recurrent otitis media, Gastrointestinal angiodysplasia, Hep...	ORPHA:881
Fructose-1,6-Bisphosphatase Deficiency	Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme concentratio...	ORPHA:348
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Weight loss, Arthritis	ORPHA:3165
Short Stature, Microcephaly, And Endocrine Dysfunction	Insulin resistance, Dilated cardiomyopathy, Abnormal circulating lipid concentration, Lymphopenia...	OMIM:616541
Proteinuria, Chronic Benign	Proteinuria, Albuminuria, Renal insufficiency	OMIM:618884
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Hyperalaninemia, Bradycardia	OMIM:614654
Juvenile Amyotrophic Lateral Sclerosis	Urinary incontinence, Cachexia	ORPHA:300605
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Keratitis, Failure to thrive, Aspiration pneumonia, Stage 5 ...	ORPHA:1018
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Proteinuria, Abnormality ...	ORPHA:261222
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Fat malab...	OMIM:601847
Hyperaldosteronism, Familial, Type Ii	Hypokalemia, Hypertension, Hyperaldosteronism	OMIM:605635
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Pallor, Neutropenia	OMIM:609053
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Ascites, Hepatomegaly, Weight loss	ORPHA:2198
Thrombocytopenia 6	Thrombocytopenia, Spontaneous, recurrent epistaxis	OMIM:616937
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:600901
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	High, narrow palate, Nephrocalcinosis, Restrictive cardiomyopathy, Gastroesophageal reflux, Abnor...	ORPHA:369837
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Dilated cardiomyopathy, Gastroesophageal reflux, IgA deposition in the gl...	ORPHA:79408
Gaucher Disease, Perinatal Lethal	Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Thrombocytopenia, Anemia, ...	OMIM:608013
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Wild Type Attr Amyloidosis	Nephropathy, Renal insufficiency, Proteinuria, Weight loss, Hepatomegaly, Nephrotic syndrome	ORPHA:330001
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Weight loss, Hy...	OMIM:143880
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased heart rate variability, Self-mutilation, Attention deficit hyperactivity disorder, Thro...	OMIM:619005
Cystinosis, Nephropathic	Aminoaciduria, Generalized aminoaciduria, Failure to thrive, Glycosuria, Failure to thrive in inf...	OMIM:219800
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent...	ORPHA:542323
Apparent Mineralocorticoid Excess	Polydipsia, Abnormality of circulating cortisol level, Decreased circulating renin level, Hypokal...	ORPHA:320
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Lymphopenia, Absent uvula, Intestinal atresia, Rectovaginal ...	OMIM:619708
Acute Liver Failure	Gastrointestinal hemorrhage, Hypotension, Depression, Hepatitis, Hypoglycemia, Hepatocellular nec...	ORPHA:90062
Nail-Patella Syndrome	Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome	OMIM:161200
Adrenocortical Carcinoma	Increased circulating cortisol level, Hyperaldosteronism, Palpitations, Irritability, Hypokalemia...	ORPHA:1501
Primary Unilateral Adrenal Hyperplasia	Epistaxis, Polydipsia, Palpitations, Decreased circulating renin level, Hypokalemia, Hypertension...	ORPHA:231580
Familial Hyperaldosteronism Type I	Epistaxis, Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism, Hypokalemia, Intrac...	ORPHA:403
Dravet Syndrome	Pallor	ORPHA:33069
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome...	OMIM:617730
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F	OMIM:619769
Ddost-Cdg	Nephrotic range proteinuria, Hepatic steatosis, Failure to thrive	ORPHA:300536
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly	OMIM:618107
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculat...	ORPHA:247691
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Thrombocytopenia, Anemia, Heart murmur, Int...	ORPHA:163979
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:227650
Intestinal Dysmotility Syndrome	Weight loss, Failure to thrive	OMIM:620045
21Q22.11Q22.12 Microdeletion Syndrome	Self-injurious behavior, Bruxism, Stereotypical body rocking, Tongue thrusting, Hyperactivity, Th...	ORPHA:261323
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Fanconi-Bickel Syndrome	Intrahepatic cholestasis, Generalized aminoaciduria, Ketonuria, Failure to thrive, Beta 2-microgl...	OMIM:227810
Immunoglobulin A Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Renal insufficiency, Episc...	ORPHA:761
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Hellp Syndrome	Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic anemia, Increased body weight, ...	ORPHA:244242
Tetanus	Elevated circulating creatine kinase concentration, Hypertension, Bradycardia, Tachycardia, Dysph...	ORPHA:3299
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Attention deficit hyperactivity disorder, Hyperactivity, Bradycardia	OMIM:617182
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Failure to thrive, Low-molecular-weight pr...	ORPHA:18
Congenital Syphilis	Hypoglycemia, Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Panc...	ORPHA:499009
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Nephrocalcinosis, Glycosuria, Large for gestational age, Hyperphosphaturia, Protei...	OMIM:616026
Renal Nutcracker Syndrome	Renal artery stenosis, Hematuria, Proteinuria, Weight loss, Anemia, Microscopic hematuria	ORPHA:71273
Orofaciodigital Syndrome I	Hepatic fibrosis, Hamartoma of tongue, Ankyloglossia, Hepatic cysts, Ovarian cyst, Proteinuria, V...	OMIM:311200
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular ...	OMIM:203700
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Polydipsia, Pancreatitis, Dysphagia, Thrombocytopenia, Neutropenia, ...	ORPHA:537
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Pancreatitis, Dysphagia, Thrombocytopenia, Anemia, Abnormality of ne...	ORPHA:36426
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W...	ORPHA:276621
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Myoglobinuria, Neutropenia, Hepatomegaly	OMIM:251900
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Dark urine, Tachycardia,...	ORPHA:521219
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss, Bronchiectasis	ORPHA:1164
Pemphigus Vulgaris	Autoimmunity, Anti-desmoglein-1 antibody positivity, Weight loss, Anti-desmoglein-3 antibody posi...	ORPHA:704
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro...	OMIM:615947
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Epistaxis, Hypoglycemic seizures, Hypoglycemia, Hepatocellular carcinoma, Xanthelasma, Hyperlipid...	ORPHA:79259
Galloway-Mowat Syndrome 1	Hypoalbuminemia	OMIM:251300
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Dilatation of the renal pelvis, Tetralogy of Fallot, Horseshoe kidney, Hepat...	OMIM:274000
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter...	OMIM:301220
Cholera	Hypovolemic shock, Hypotension, Hypoglycemia, Hypocalcemia, Irritability, Hypokalemia, Hyponatrem...	ORPHA:173
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Increased mean corpuscular volume, Mitral regurgitation, Thrombocytopenia...	ORPHA:261250
X-Linked Intellectual Disability, Cabezas Type	Cachexia, Obesity, Hypoplasia of penis	ORPHA:85293
Pparg-Related Familial Partial Lipodystrophy	Prominent veins on trunk, Atherosclerosis, Hypertrophic cardiomyopathy, Congestive heart failure,...	ORPHA:79083
Cockayne Syndrome	Urinary incontinence, Renal hypoplasia, Unilateral renal agenesis, Malar rash, Renal insufficienc...	ORPHA:191
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag...	OMIM:301050
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Familial Mediterranean Fever, Autosomal Dominant	Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis	OMIM:134610
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig...	OMIM:300555
Atelis Syndrome 2	Hyperinsulinemia, Vitreous hemorrhage, Attention deficit hyperactivity disorder, Thrombocytopenia...	OMIM:620185
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, E...	ORPHA:79303
Bone Dysplasia, Lethal Holmgren Type	Anemia, Hepatomegaly, Weight loss, Failure to thrive	ORPHA:1842
Joubert Syndrome 1	Nephropathy, Hepatic fibrosis, Protruding tongue, Renal cyst, Macroglossia	OMIM:213300
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti...	OMIM:613960
Mednik Syndrome	Hepatic fibrosis, Microcolon, Volvulus, Cholestasis, Jejunal atresia, Cirrhosis	OMIM:609313
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Abnormality of the urinary system, Cherry red spot of the macula, Hypertr...	OMIM:230500
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Rheumatoid factor positive, Sacroiliac a...	OMIM:106300
Dyskeratosis Congenita	Bone marrow hypocellularity, Hepatic failure, Blepharitis, Periodontitis, Oral leukoplakia, Anore...	ORPHA:1775
Fabry Disease	Lipiduria, Renal insufficiency, Proteinuria, Left ventricular hypertrophy, Anemia, Urinary mulber...	OMIM:301500
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Aggressive behavior, Thrombocytopenia, Neonatal hypoglycemia, Dysphagia	ORPHA:572798
Digeorge Syndrome	Recurrent otitis media, Hepatic steatosis, Ovarian cyst, High palate, Renal dysplasia, Patent duc...	OMIM:188400
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Renal cyst, Multicystic kidney dysplasia, Glossoptosis, Congenital hepatic fibrosis	ORPHA:2031
Infantile Krabbe Disease	Cachexia, Failure to thrive	ORPHA:206436
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Exocrine pancreatic insufficiency, Colitis, Iron deficiency anemia, Keratoconjunctiviti...	ORPHA:309031
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, CNS foam cells, Foam cells, Hepatomegaly, Pr...	OMIM:607625
Alagille Syndrome 2	Cholestatic liver disease, Renal hypoplasia, Cholestasis, Renal insufficiency, Renal tubular acid...	OMIM:610205
Immunodeficiency 110 With Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Neutropenia	OMIM:614868
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopen...	OMIM:227645
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Annular pancreas, Volvulus, Duodenal stenosis, Tetralogy of Fallot, Intest...	ORPHA:210122
Fumarase Deficiency	Intrahepatic cholestasis, Hepatic failure, Polycythemia, Pallor, Decreased fumarate hydratase act...	OMIM:606812
Scrub Typhus	Hypotension, Renal insufficiency, Splenomegaly, Skin rash, Infectious encephalitis, Lymphadenopat...	ORPHA:83317
Congenital Disorder Of Deglycosylation 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Dilation of Virchow-Ro...	OMIM:615273
Thymic Carcinoma	Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy	ORPHA:99868
Glycogen Storage Disease Ic	Spider hemangioma, Hypoglycemia, Cyclic neutropenia, Xanthelasma, Hyperlipidemia, Chronic pancrea...	OMIM:232240
Scorpion Envenomation	Acute pancreatitis, Cardiogenic shock, Prominent U wave, Glycosuria, Congestive heart failure, Bu...	ORPHA:466677
Hyperaldosteronism, Familial, Type Iii	Polydipsia, Hyperaldosteronism, Decreased circulating renin level, Hypokalemia, Hypertension	OMIM:613677
22Q11.2 Deletion Syndrome	Cryptorchidism, Hypoparathyroidism, Anal atresia, Hypospadias, Patent ductus arteriosus, Chronic ...	ORPHA:567
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Palpitations, Atrial arr...	OMIM:615745
Meckel Syndrome	Accessory spleen, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongue, Furrowed tongue...	ORPHA:564
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Trichothiodystrophy 5, Nonphotosensitive	Micropenis, Decreased testicular size, Chronic decreased circulating IgG1, Panhypopituitarism	OMIM:300953
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Aortic valve stenosis, Aortic regurgitation, Increased circulating antibody level	OMIM:114065
Systemic Capillary Leak Syndrome	Oliguria, Renal insufficiency, Leukocytosis, Abnormal renal tubule morphology, Pancreatitis, Weig...	ORPHA:188
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
X-Linked Creatine Transporter Deficiency	Cachexia	ORPHA:52503
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Rat-Bite Fever	Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Abdominal aseptic abscess, Skin ra...	ORPHA:31205
Fanconi Anemia, Complementation Group F	Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia	OMIM:603467
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g...	OMIM:613388
Cranioectodermal Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failure, High, narrow palate,...	OMIM:218330
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Leiomyomatosis, Diffuse, With Alport Syndrome	Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Fa...	OMIM:308940
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Anemia, Thrombocytopenia, Aortic regurgitation	OMIM:620072
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Second degree atrioventricular block, Decreased circulating renin level, Hypokalemia, Left ventri...	OMIM:615474
Pituitary Apoplexy	Hypotension, Increased circulating cortisol level, Hypoglycemia, Hyponatremia, Hypertension, Norm...	ORPHA:95613
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Second degree atrioventricular block, Polydipsia, Hyperaldosteronism, Hypokalemia, Pul...	ORPHA:369929
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Anteriorly placed anus, Large vessel vasculitis, Recurrent aphthou...	ORPHA:728
Sandifer Syndrome	Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Anemia, Feed...	ORPHA:71272
Sapho Syndrome	Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin ras...	ORPHA:793
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Tachycardia, Palpitations	OMIM:188580
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Prolonged neonatal...	ORPHA:95716
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating creatinine concentration, Hepatic cysts, Hypokalemia, Hepatomegaly, Jaundice...	OMIM:613095
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Neoplasm of the thymus, Chronic noninfectious lymphadenopathy, Pancreati...	ORPHA:97289
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Skin rash, Abscess, Pustule, Neutrophi...	OMIM:612852
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Decreased response to growth hormone stimulation...	OMIM:602782
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Cryoglobulinemia, Proteinuria, Hematuria, Abnormal renal physiology	OMIM:123550
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Splenomegaly, Protruding tongue, Hepatomegaly, Dysphagia, Patent ductus a...	OMIM:230600
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Subarachnoid hemorrhage, Melen...	ORPHA:853
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Eczematoid dermatitis, Decreased liver function, Microcytic anemia, Cirrhosis	ORPHA:79278
Galloway-Mowat Syndrome 10	Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ...	OMIM:619609
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Dysphagia, Bradycardia	OMIM:616276
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Bannayan-Riley-Ruvalcaba Syndrome	Hashimoto thyroiditis, Cachexia	ORPHA:109
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Dysphagia, Calcinosis, Hypertension	OMIM:617913
Recon Progeroid Syndrome	Anemia, Thrombocytopenia	OMIM:620370
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemia, Anemic pallor	ORPHA:329971
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Autoimmunity, Psor...	ORPHA:85436
Malakoplakia	Inflammatory abnormality of the skin, Urinary bladder inflammation, Urinary hesitancy, Follicular...	ORPHA:556
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Neutropenia	OMIM:271510
Pulmonary Non-Tuberculous Mycobacterial Infection	Bronchiectasis, Weight loss, Lymphadenopathy	ORPHA:411703
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Intestinal obstruction, Telangiectasia, Keratoconjunctivitis sic...	OMIM:601675
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr...	OMIM:619484
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bradycardia, Atrial fibrillation...	OMIM:616201
Acquired Hypertrichosis Lanuginosa	Weight loss, Lymphadenopathy	ORPHA:2221
Aminoacylase 1 Deficiency	Hyperactivity, Bradycardia	OMIM:609924
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Autoimmunity, Infectious encephalitis	ORPHA:363558
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Pulmonary arterial hypertension, Erythema nodosum, Hepatomegaly, Mediastinal lympha...	OMIM:612387
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Microglossia, Tricuspid regurgitation, Hamartoma of tongue, Intestinal malrotat...	OMIM:263520
Acute Generalized Exanthematous Pustulosis	Cholestasis, Predominantly dermal neutrophilic infiltrate, Leukocytosis, Renal insufficiency, Pus...	ORPHA:293173
Collagenoma, Familial Cutaneous	Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ...	OMIM:115250
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia	OMIM:618314
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of...	OMIM:242700
Gitelman Syndrome	Hypotension, Polydipsia, Hypomagnesemia, Palpitations, Hypokalemia, Salt craving, Ventricular tac...	OMIM:263800
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Meckel Syndrome 14	Tricuspid regurgitation, Hepatic fibrosis, Polycystic kidney dysplasia, Mitral regurgitation	OMIM:619879
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo...	OMIM:300009
Johanson-Blizzard Syndrome	Cryptorchidism, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, Anal a...	OMIM:243800
Kindler Epidermolysis Bullosa	Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Colitis, Abnormality ...	ORPHA:2908
Peroxisome Biogenesis Disorder 1B	Hepatic fibrosis, Hyperoxaluria, Renal cyst, Cirrhosis, Hepatomegaly	OMIM:601539
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis	OMIM:618913
Rett Syndrome	Cachexia	OMIM:312750
Leukocyte Adhesion Deficiency Type Ii	Recurrent pneumonia, Keratitis, Failure to thrive, Recurrent urinary tract infections, Microcytic...	ORPHA:99843
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear-induced behavior, Congestive heart failure, Irritability, Aggressive behavior, Hype...	ORPHA:3077
Poikiloderma With Neutropenia	Recurrent pneumonia, Recurrent otitis media, Leukopenia, Splenomegaly, Recurrent sinusitis, Skin ...	OMIM:604173
Cockayne Syndrome Type 1	Failure to thrive, Renal insufficiency, Proteinuria, Hepatomegaly, Anemia, Conjunctivitis, Uveitis	ORPHA:90321
Glutamine Deficiency, Congenital	Hypoglutaminemia, Hyperammonemia, Bradycardia	OMIM:610015
Chronic Hiccup	Weight loss	ORPHA:396
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure, Myeloid leukemia	ORPHA:331
Familial Mediterranean Fever	Renal amyloidosis, Erysipelas, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Crohn'...	OMIM:249100
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Failure to thrive in infancy, Decreased glomerular filtration rate, Prote...	ORPHA:488627
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Failure to thrive, Splenomegaly, Macrocytic anemia, Cholecysti...	OMIM:615512
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Familial Hyperaldosteronism Type Ii	Epistaxis, Hypokalemia, Intracranial hemorrhage, Hypertension, Glucocortocoid-insensitive primary...	ORPHA:404
Oculoskeletodental Syndrome	Protein-losing enteropathy, Renal agenesis, Splenomegaly, Cryptorchidism, Lacunar stroke, Mucopol...	OMIM:618440
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancreatic fibrosis, Hepa...	OMIM:616263
Intermediate Uveitis	Vasculitis, Psoriasiform dermatitis, Optic neuritis, Tubulointerstitial nephritis, Anterior uveitis	ORPHA:279914
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia	OMIM:300752
Myopathy With Lactic Acidosis, Hereditary	Anemia, Sideroblastic anemia, Leukopenia, Myoglobinuria	OMIM:255125
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, W...	ORPHA:29072
Apparent Mineralocorticoid Excess	Hypokalemia, Hypertension, Decreased circulating renin level	OMIM:218030
D-Glyceric Aciduria	Hypoglycemia, Tongue thrusting, Bradycardia, Elevated circulating D-glyceric concentration, Nonke...	OMIM:220120
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Lymphopenia, Pancytopenia, Leukopenia, Thrombocytopenia, Anemia, Pulmonic stenosis	OMIM:620654
Noonan Syndrome 4	Hypertrophic cardiomyopathy, Pulmonic stenosis, Thrombocytopenia	OMIM:610733
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polydipsia, Hypomagnesemia, Hyperaldosteronism, Hypokalemia, Salt craving, Hypertension, Increase...	OMIM:612780
Deeah Syndrome	Exocrine pancreatic insufficiency, Decreased heart rate variability, Self-mutilation, Thrombocyto...	OMIM:619004
Sialuria	High, narrow palate, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hep...	ORPHA:3166
Diarrhea 1, Secretory Chloride, Congenital	Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:214700
Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:803
Lipodystrophy, Congenital Generalized, Type 2	Hypertrophic cardiomyopathy, Hyperinsulinemia, Type II diabetes mellitus, Splenomegaly, Hepatic s...	OMIM:269700
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated...	ORPHA:53693
Malt Lymphoma	Posterior uveitis, Weight loss, Lymphadenopathy, Anemia, Mediastinal lymphadenopathy	ORPHA:52417
Bardet-Biedl Syndrome	Chronic kidney disease, Inflammation of the large intestine, Hepatic steatosis, Cryptorchidism, P...	ORPHA:110
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Protruding tongue, High palate,...	OMIM:617062
Kaufman Oculocerebrofacial Syndrome	Hypocholesterolemia	OMIM:244450
Long Qt Syndrome 15	Ventricular bigeminy, 2:1 atrioventricular block, Sinus bradycardia, Cardiac arrest, Premature ve...	OMIM:616249
Lathosterolosis	Intrahepatic cholestasis, Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis, He...	ORPHA:46059
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Ectopic Aldosterone-Producing Tumor	Epistaxis, Decreased circulating renin level, Hypokalemia, Hypertension, Glucocortocoid-insensiti...	ORPHA:231632
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Ascites, Splenomegaly, ...	OMIM:235255
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Self-injurious behavior, Depression, Abnormal hemoglobin	ORPHA:847
Alg9-Cdg	Bifid uvula, Periportal fibrosis, Gastroesophageal reflux, Hypoplasia of the bladder, Tricuspid r...	ORPHA:79328
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Anemia, Reticulocytopenia, Attention...	OMIM:227646
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5...	OMIM:120330
Sarcoidosis	Abnormal lymph node morphology, Leukopenia, Hypercalcemia, Portal hypertension, Increased T cell ...	ORPHA:797
Isaacs Syndrome	Weight loss	ORPHA:84142
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Pulmonary arterial hypertension, Esophageal ...	OMIM:616028
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Glucose intolerance, Emotional lability, Hypokalemia, Hypertensio...	OMIM:219090
Congenital Nephrotic Syndrome, Finnish Type	Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology	ORPHA:839
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Listeriosis	Arteritis, Abscess, Pustule, Jaundice, Endocarditis, Acute kidney injury, Osteomyelitis, Peritoni...	ORPHA:533
Mercury Poisoning	Hypotension, Hypokalemia, Anorexia, Tachycardia, Hypertension	ORPHA:330021
Wolfram Syndrome 2	Neurogenic bladder, Peptic ulcer, Decreased circulating antibody level, Impaired collagen-induced...	OMIM:604928
Frasier Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:136680
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration, Elevated circulating hepatic transaminase concent...	ORPHA:69665
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D...	OMIM:174000
Hypomagnesemia 3, Renal	Chronic kidney disease, Hematuria, Macroscopic hematuria, Renal magnesium wasting, Sterile pyuria...	OMIM:248250
Liddle Syndrome 2	Hypokalemia, Hypertension, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Hypertension, Decreased circulating renin level	OMIM:618126
Ectodermal Dysplasia And Immunodeficiency 2	Recurrent infection of the gastrointestinal tract, Splenomegaly, Defective production of NFKB1-de...	OMIM:612132
Hydatidiform Mole	Anemia, Miscarriage	ORPHA:99927
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Depression, Abnormal circulating thyroglobulin concentration, Attent...	ORPHA:90674
Frasier Syndrome	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa...	ORPHA:347
Ogden Syndrome	Polycythemia, Microvesicular hepatic steatosis, Torsade de pointes, Premature atrial contractions...	OMIM:300855
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Rabson-Mendenhall Syndrome	Postprandial hyperglycemia, Insulin resistance, Polydipsia, Insulin-resistant diabetes mellitus, ...	ORPHA:769
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Long Qt Syndrome 16	Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia	OMIM:618782
Adenohypophysitis	Pallor, Normochromic anemia	ORPHA:95512
Cartilage-Hair Hypoplasia	Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge...	OMIM:250250
Erythrokeratodermia Variabilis	Weight loss, Skin rash	ORPHA:317
Liddle Syndrome 1	Hypokalemia, Hypertension, Decreased circulating renin level	OMIM:177200
Fanconi Anemia, Complementation Group Q	Bone marrow hypocellularity, Esophageal atresia, Anteriorly placed anus, Biliary atresia	OMIM:615272
Familial Thrombocytosis	Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Acute m...	ORPHA:71493
Oculopharyngodistal Myopathy	Recurrent aspiration pneumonia, Weight loss	ORPHA:98897
Granulomatosis With Polyangiitis	Keratitis, Episcleritis, Cytoplasmic antineutrophil antibody positivity, Weight loss, Granulomato...	OMIM:608710
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Tachycardia	OMIM:613239
Down Syndrome	Polycythemia, Type II diabetes mellitus, Acute megakaryocytic leukemia, Abnormality of the lympha...	ORPHA:870
Central Diabetes Insipidus	Weight loss, Failure to thrive, Nocturia	ORPHA:178029
Anemia, Congenital Dyserythropoietic, Type Iiia	Increased circulating lactate dehydrogenase concentration, Macrocytic anemia, Anemia of inadequat...	OMIM:105600
Hypouricemia, Renal, 1	Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper...	OMIM:220150
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Eczematoid dermatitis, Hemolytic anemia, Hepatic failure	OMIM:177000
Hereditary Renal Hypouricemia	Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol...	ORPHA:94088
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Ascites, Hepatosplenome...	ORPHA:1655
Congenital Disorder Of Glycosylation, Type Im	Hypoketotic hypoglycemia, Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty a...	OMIM:610768
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Proteinuria, Tubulointerstitial nephritis	OMIM:616901
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hemolytic anemia, Reticulocytosis	OMIM:266120
Trisomy 18	Hydronephrosis, Abnormality of the upper urinary tract, Cachexia	ORPHA:3380
Rheumatic Fever	Erythema, Pallor	ORPHA:3099
Hereditary Hemorrhagic Telangiectasia	Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Hematuria, Cirrhosis, Re...	ORPHA:774
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:300971
Schwartz-Jampel Syndrome	Abnormality of the urinary system, Abnormality of the ureter, Nephrolithiasis, Decreased body wei...	ORPHA:800
Argininosuccinic Aciduria	Aminoaciduria, Hepatic fibrosis, Oroticaciduria, Elevated circulating aspartate aminotransferase ...	OMIM:207900
Denys-Drash Syndrome	Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma	ORPHA:220
Bcard Syndrome	Arterial rupture, Thrombocytopenia	OMIM:612394
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia, Varicose veins, Recurrent skin infe...	ORPHA:90186
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Failure to ...	ORPHA:411634
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Bone marrow hypocellularity, Intestinal bleeding, Thrombocytopenia, Anemia, Gastrointestinal tela...	OMIM:612199
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Alström Syndrome	Chronic kidney disease, Testicular fibrosis, Hepatosplenomegaly, Hepatic steatosis, Polycystic ov...	ORPHA:64
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cholelithiasis, Nephrocalcinosis, Chronic mucocutaneous candidiasis, Keratoco...	OMIM:240300
Cryptogenic Organizing Pneumonia	Weight loss, Leukocytosis, Neutrophilia	ORPHA:1302
Panhypophysitis	Pallor, Normochromic anemia	ORPHA:95513
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Depression, Cardiomyopathy, Arrhythmia, Dysphagia, Bradycardia, Diabetes mellitus	OMIM:609286
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Low-molec...	ORPHA:3337
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula...	ORPHA:228302
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Glucose intolerance, Impaired glucose tolerance, Bradycardia	OMIM:614407
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Hermansky-Pudlak Syndrome 1	Abdominal pain, Inflammation of the large intestine, Colitis, Hematochezia	OMIM:203300
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Renal insufficiency, Proteinuria, Glomerulopathy, Elliptocytosis, Microscopic hematuria	ORPHA:86818
Scheie Syndrome	Aortic regurgitation, Splenomegaly, Mucopolysacchariduria, Hepatomegaly, Rhinitis	ORPHA:93474
Klatskin Tumor	Weight loss, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia	OMIM:615605
Anaplastic Thyroid Carcinoma	Weight loss, Lymphadenopathy	ORPHA:142
Agel Amyloidosis	Proteinuria, Stage 5 chronic kidney disease, Abnormal spleen morphology, Keratoconjunctivitis sicca	ORPHA:85448
Melas	Nephropathy, Focal segmental glomerulosclerosis, Proximal tubulopathy, Failure to thrive, Protein...	ORPHA:550
Oculocerebrorenal Syndrome Of Lowe	Self-injurious behavior, Depression, Hyperaldosteronism, Hyponatremia, Hypokalemia, Attention def...	ORPHA:534
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Dysphagia, Increased circulating antibody level	OMIM:606002
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:603041
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Donnai-Barrow Syndrome	Proteinuria	ORPHA:2143
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Isolated Succinate-Coq Reductase Deficiency	Left ventricular hypertrophy, Weight loss, Vesicoureteral reflux	ORPHA:3208
Huntington Disease-Like 2	Weight loss	OMIM:606438
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Tay-Sachs Disease	Pallor	OMIM:272800
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom...	ORPHA:93598
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Non-Functioning Pituitary Adenoma	Pallor, Anemia of inadequate production	ORPHA:91349
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Familial Pancreatic Carcinoma	Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg...	ORPHA:1333
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Osteomyelitis, Autoimmunity, Lupus anticoagulant, Antiphosph...	ORPHA:70591
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Fat malabso...	ORPHA:309108
Acitretin/Etretinate Embryopathy	Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia	ORPHA:40366
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia	OMIM:602722
Andersen Cardiodysrhythmic Periodic Paralysis	Depression, Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Hypokalemia, Syncop...	OMIM:170390
Cysticercosis	Infectious encephalitis, Stroke, Increased circulating antibody level, Iridocyclitis, Increased a...	ORPHA:1560
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Peutz-Jeghers Syndrome	Intestinal bleeding, Gastrointestinal carcinoma, Bladder polyp, Bile duct polyp, Abnormality of t...	OMIM:175200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Hepatic steatosis, Cardiomegaly, Hep...	ORPHA:228308
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Mildly elevated creatine kinase, Bradycardia	OMIM:620351
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Nephrolithiasis, ...	OMIM:232200
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Skin rash, Nephrolithiasis, Weight loss, Keratocon...	OMIM:617321
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Micronodula...	OMIM:192315
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cachexia, Skin rash	ORPHA:220295
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, Motor stereotypy, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Aminoaciduria, Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decr...	OMIM:124000
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Weight loss, Lymphadenopathy	ORPHA:1332
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcification, Myoglobinuria, Renal tubu...	ORPHA:157
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hypotension, Hyperkalemia, Shock, Hyponatremia, Decreased circulating cortisol level, Neonatal hy...	ORPHA:90794
Hughes-Stovin Syndrome	Vasculitis, Pulmonary artery aneurysm, Pulmonary embolism, Arterial stenosis, Pulmonary arterial ...	ORPHA:228116
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Mitochondrial Trifunctional Protein Deficiency 1	Cholestasis, Myoglobinuria, Small for gestational age, Failure to thrive	OMIM:609015
Plague	Inflammation of the large intestine, Diarrhea, Lymphadenitis, Vomiting, Chapped lip, Bloody diarr...	ORPHA:707
Illum Syndrome	Calcinosis, Bradycardia	OMIM:208155
Degcags Syndrome	Cholestasis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Intrauterine growth retardation, Pallo...	OMIM:619488
Bartter Syndrome, Type 3	Hypotension, Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Increased circulating renin level	OMIM:607364
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Left superior vena cava draining to coronary sinus, Hepatomegaly, Anal a...	OMIM:306955
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst...	ORPHA:33001
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole...	OMIM:300554
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Loeffler Endocarditis	Eosinophilia, Weight loss, Left ventricular hypertrophy, Pericarditis	ORPHA:75566
Gm1 Gangliosidosis	Failure to thrive, Aspiration pneumonia, Hepatosplenomegaly, Splenomegaly, Infectious encephaliti...	ORPHA:354
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ascites, Left...	OMIM:261740
Developmental And Epileptic Encephalopathy 50	Failure to thrive, Oroticaciduria, Acanthocytosis, Renal tubular acidosis, Schistocytosis, Anisop...	OMIM:616457
Dubowitz Syndrome	Attention deficit hyperactivity disorder, Thrombocytopenia, Anemia, Abnormality of neutrophils, A...	ORPHA:235
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Recurren...	ORPHA:368
Glycogen Storage Disease Ii	Urinary incontinence, Sinus tachycardia, Dilatation of the cerebral artery, Splenomegaly, Shorten...	OMIM:232300
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Hyperaldosteronism, Hypertrophic cardiomyopathy, ...	ORPHA:508
Cockayne Syndrome B	Failure to thrive, Renal insufficiency, Splenomegaly, Proteinuria, Severe failure to thrive, Micr...	OMIM:133540
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Pmm2-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Increased circulating ...	ORPHA:79318
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Exocrine pancreatic insufficie...	OMIM:618268
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Pancreatic hypoplasia, Glycosuria, Exocrine pancreat...	OMIM:137920
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Micronodular cirrhosis, Ascites, Splenomegaly, Thrombocytopenia, Hepatomegaly	OMIM:301072
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Cat Eye Syndrome	Total anomalous pulmonary venous return, Anal stenosis, Meckel diverticulum, Volvulus, Renal agen...	OMIM:115470
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Failure to thrive, Prolonged neonatal jaundice, Hydronephrosis, Albuminuria, Hepat...	OMIM:214100
Subacute Cutaneous Lupus Erythematosus	Discoid lupus rash, Anti-Ro/SS-A antibody positivity, Anti-dsDNA antibody positivity, Malar rash,...	ORPHA:163525
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Raynaud phenomenon, Neutropenia, Lymphadenopathy, Autoimmune thro...	OMIM:607944
Distal Limb Deficiencies-Micrognathia Syndrome	Proteinuria, Renal hypoplasia, Renal insufficiency	ORPHA:1307
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Hepatic necrosis, Hepatic steatosis, Dicarboxylic aciduria	OMIM:231530
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena...	OMIM:146255
Cushing Disease	Depression, Increased circulating cortisol level, Lymphopenia, Capillary fragility, Leukocytosis,...	ORPHA:96253
Autosomal Recessive Malignant Osteopetrosis	Anemia, Hepatomegaly, Pallor, Splenomegaly	ORPHA:667
Proteus Syndrome	Long penis, Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic ovaries...	ORPHA:744
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria	OMIM:160010
Cornelia De Lange Syndrome 1	Pneumonia, Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesicoureteral reflu...	OMIM:122470
Severe Oculo-Renal-Cerebellar Syndrome	Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:2715
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100075
Cockayne Syndrome A	Failure to thrive, Renal insufficiency, Splenomegaly, Thymic hormone decreased, Proteinuria, Micr...	OMIM:216400
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Myoglobinuria, Hepatic steatosis, Red-brown urine	ORPHA:228305
Hypothyroidism Due To Tsh Receptor Mutations	Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Increased circulating thyroglobulin con...	ORPHA:90673
Primary Hepatic Neuroendocrine Carcinoma	Ascites, Chronic noninfectious lymphadenopathy, Hepatic cysts, Intermittent jaundice, Biliary tra...	ORPHA:100085
Peripheral Primitive Neuroectodermal Tumor	Pelvic mass, Ascites, Weight loss, Pancreatitis, Anemia, Jaundice, Neoplasm of the pancreas	ORPHA:370348
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Dyschondrosteosis-Nephritis Syndrome	Nephropathy, Proteinuria, Hematuria	ORPHA:1765
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Hyperferritinemia With Or Without Cataract	Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc...	OMIM:600886
3-Methylglutaconic Aciduria, Type Viii	Neutropenia, Bradycardia, Jaundice, Neonatal hypoglycemia, Dysphagia	OMIM:617248
Bronchial Neuroendocrine Tumor	Hepatomegaly, Weight loss, Chronic noninfectious lymphadenopathy, Pneumonia	ORPHA:97287
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Weight loss, Chronic noninfectious lymphadenopathy	ORPHA:100080
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Predominantly dermal...	ORPHA:284426
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Glycosuria, Failure to thrive, Hypernatriuria, Low-molecular-wei...	ORPHA:47159
Seckel Syndrome	Cachexia	ORPHA:808
Ohdo Syndrome	Proteinuria	OMIM:249620
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Failure to thrive, Dicarboxylic aciduria, Hepatic necrosis, Hepatic steatosis, Myoglobinuria	ORPHA:71212
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Fabry Disease	Nephropathy, Renal insufficiency, Hematuria, Proteinuria, Left ventricular hypertrophy, Abnormal ...	ORPHA:324
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Ileal Neuroendocrine Tumor	Hydronephrosis, Iron deficiency anemia, Weight loss, Lymphadenopathy, Extrahepatic cholestasis	ORPHA:100078
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte...	ORPHA:100086
Graves Disease	Weight loss, Abnormal abdomen morphology	OMIM:275000
Malignant Peritoneal Mesothelioma	Ascites, Peritonitis, Weight loss	ORPHA:168811
Incontinentia Pigmenti	Erythema, Eosinophilia, Leukocytosis, Pallor	OMIM:308300
Khan-Khan-Katsanis Syndrome	Tricuspid regurgitation, Lymphopenia, Neutropenia, Anemia, Dysphagia	OMIM:618460
Martin-Probst Syndrome	Pancytopenia, Renal insufficiency, Proteinuria, Chordee, Micropenis	OMIM:300519
Myoglobinuria, Recurrent	Exercise-induced myoglobinuria, Recurrent myoglobinuria	OMIM:550500
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating renin level, Hypokalemia, Decreased circulating cortisol level, Intracrania...	ORPHA:90795
Glucose-Galactose Malabsorption	Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss	ORPHA:35710
Gaucher Disease, Type Iiic	Pancytopenia, Calcification of the aorta, Splenomegaly, Mitral stenosis, Cardiomegaly, Hepatomegaly	OMIM:231005
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria, Neonatal death	OMIM:602199
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polydipsia, Hypomagnesemia, Hyperaldosteronis...	OMIM:241200
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Huntington Disease	Weight loss, Decreased body mass index	ORPHA:399
Myotonic Dystrophy 1	Cholelithiasis, Atrial flutter, First degree atrioventricular block, Atrial fibrillation, Dysphag...	OMIM:160900
Pyomyositis	Leukocytosis, Renal insufficiency, Myositis, Weight loss, Recurrent cutaneous abscess formation	ORPHA:764
Nail-Patella Syndrome	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic...	ORPHA:2614
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Renal Hypodysplasia/Aplasia 1	Proteinuria, Bilateral renal agenesis, Renal dysplasia	OMIM:191830
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure, Renal t...	OMIM:614886
Glycogen Storage Disease V	Myoglobinuria, Dark urine	OMIM:232600
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Bifid uvula, Gastroesophageal reflux, Unilateral renal agenesis,...	ORPHA:500150
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Acute myeloid leukemia, Cirrhosis, Thrombo...	OMIM:305000
Holoprosencephaly	Abnormality of the urinary system, Failure to thrive in infancy, Abnormality of the spleen, Prote...	ORPHA:2162
Hyperbiliverdinemia	Cholestasis, Cholelithiasis, Green urine, Decreased liver function	OMIM:614156
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Wagro Syndrome	Proteinuria, Obesity, Nephroblastoma	OMIM:612469
Isolated Permanent Neonatal Diabetes Mellitus	Moderate albuminuria, Ketonuria, Glycosuria, Pancreatic hypoplasia, Failure to thrive, Renal tubu...	ORPHA:99885
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Von Hippel-Lindau Disease	Polycythemia, Pallor, Pancreatic islet cell adenoma, Pancreatic cysts, Neoplasm of the pancreas	ORPHA:892
Bartter Syndrome Type 4	Hypomagnesemia, Hyperaldosteronism, Emotional lability, Hypokalemia, Hyponatremia, Hypochloremia,...	ORPHA:89938
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Irritabili...	ORPHA:51
Infantile Nephropathic Cystinosis	Aminoaciduria, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Hyperphosphaturia...	ORPHA:411629
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Weight loss, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Weight loss, Chronic noninfectious lymphadenopathy	ORPHA:100082
Fusariosis	Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Abnormality of the liver, Perit...	ORPHA:228119
Severe Generalized Junctional Epidermolysis Bullosa	Anemia, Abnormal blood ion concentration, Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypoglycemia, Decreased circulating renin level, Hyponatremia, Decreased circulating cortisol lev...	OMIM:201750
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Gcgr-Related Hyperglucagonemia	Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology	ORPHA:438274
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Cholestasis...	OMIM:615710
Erdheim-Chester Disease	Osteomyelitis, Renal insufficiency, Skin rash, Hydronephrosis, Weight loss, Anemia, Dysuria, Retr...	ORPHA:35687
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia	OMIM:613090
Mitochondrial Trifunctional Protein Deficiency 2	Myoglobinuria, Recurrent myoglobinuria, Neonatal death	OMIM:620300
Polyarteritis Nodosa	Weight loss, Abnormality of the kidney, Pericarditis	ORPHA:767
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating renin level, Hypokalemia, Decreased circulating cortisol level, Increased c...	ORPHA:90793
Becker Muscular Dystrophy	Myoglobinuria, Abnormal urinary color	ORPHA:98895
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hyperaldosteronism, Hypokalem...	OMIM:601678
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Erythroderma	ORPHA:312
Liposarcoma	Weight loss, Abnormality of the kidney	ORPHA:69078
Glossopharyngeal Neuralgia	Autoimmunity, Weight loss	ORPHA:221098
Reactive Arthritis	Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust...	ORPHA:29207
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Elevated urinary norepinephrine level	OMIM:171420
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:2065
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Grfoma	Increased circulating prolactin concentration, Intestinal obstruction, Elevated circulating growt...	ORPHA:97261
Donnai-Barrow Syndrome	Proteinuria, Non-acidotic proximal tubulopathy	OMIM:222448
Perry Syndrome	Weight loss	ORPHA:178509
Psoriasis 14, Pustular	Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Neutrophilia, Cholangitis	OMIM:614204
Nelson Syndrome	Increased circulating cortisol level, Type II diabetes mellitus, Hypokalemia, Intracranial hemorr...	ORPHA:199244
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Venous malformation, Splenomegaly, Nephroblastoma	OMIM:612918
Alkaptonuria	Aortic valve stenosis, Black pigment gallstones, Mitral regurgitation, Mitral stenosis, Hypertens...	ORPHA:56
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Arrhythmia, Bradycardia, Sick sinus syndrome, Prolonged PR interval	ORPHA:542306
Pancreatoblastoma	Pancreatic calcification, Jaundice, Weight loss, Abnormal lymph node morphology	ORPHA:677
Prolactinoma	Pallor	ORPHA:2965
Histiocytoid Cardiomyopathy	Hepatomegaly, Pallor	ORPHA:137675
Solitary Fibrous Tumor	Urinary retention, Pelvic mass, Neoplasm of the liver, Weight loss, Abnormal peritoneum morphology	ORPHA:2126
Infant Acute Respiratory Distress Syndrome	Tachycardia, Hypotension, Cardiac arrest, Bradycardia	ORPHA:70587
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Bradycardia	OMIM:614498
Marfan Syndrome	Slender build, Cachexia, Arthralgia/arthritis	ORPHA:558
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Elevated serum 11-deoxycortisol, Hypertension, Decreased circulating renin level	OMIM:202010
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss, Autoimmune antibody positivity	ORPHA:747
Jacobsen Syndrome	Annular pancreas, Thrombocytopenia	OMIM:147791
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Recurrent otitis media, Proteinuria, Multiple bladder diverticula	ORPHA:2728
Fanconi Anemia	Hypertrophic cardiomyopathy, Leukopenia, Abnormality of the liver, Thrombocytopenia, Anemia, Pyri...	ORPHA:84
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, Mild proteinuria	OMIM:619685
Stickler Syndrome	Slender build, Cachexia, Osteoarthritis, Chronic otitis media, Uveitis	ORPHA:828
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria	ORPHA:352479
Congenital Tufting Enteropathy	Cholestatic liver disease, Failure to thrive, Punctate keratitis, Weight loss, Arthritis	ORPHA:92050
Jacobsen Syndrome	Aortic valve stenosis, Bone marrow hypocellularity, Annular pancreas, Attention deficit hyperacti...	ORPHA:2308
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Left ventricular hypertrophy, Hepatomegaly, Elev...	OMIM:619127
Cap Polyposis	Atrophic gastritis, Weight loss	ORPHA:160148
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Alternating Hemiplegia Of Childhood	Pallor	ORPHA:2131
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholelithiasis, Recurrent otitis media, Hepatosplenomegaly, Cholecystitis, Hepatomegaly, Cleft pa...	OMIM:301066
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Red-brown urine, Purple urine, Erythroid hyperplasia, Splenomegaly, Red ...	ORPHA:95159
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Aspiration pneumonia	ORPHA:216866
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia, Hypertension, Increased circulating cortisol level, Hypoglycemia	ORPHA:786
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Congestive heart failure, Sev...	OMIM:620646
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice	OMIM:605479
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss, Bronchiectasis	ORPHA:79127
Bardet-Biedl Syndrome 20	Proteinuria, Obesity, Pancreatitis, Micropenis	OMIM:619471
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria	OMIM:300559
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria	ORPHA:119
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Metachromatic Leukodystrophy	Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Urina...	ORPHA:512
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Gastrointestinal hemorrhage, Abnormal abdomen morpholog...	ORPHA:97278
Combined Oxidative Phosphorylation Defect Type 39	Neonatal hypoglycemia, Bradycardia	ORPHA:565624
Glucagonoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Ascites, Acanthocytosis, Neoplasm of the p...	ORPHA:97280
Helix Syndrome	Hypokalemia, Hypermagnesemia, Polydipsia	OMIM:617671
Cushing Syndrome Due To Ectopic Acth Secretion	Depression, Increased circulating cortisol level, Abnormal lymph node morphology, Pancreatic aden...	ORPHA:99889
Nocardiosis	Pneumonia, Lymphadenitis, Cutaneous abscess, Keratitis, Brain abscess, Osteomyelitis, Infectious ...	ORPHA:31204
Mucolipidosis Type Ii	Hepatosplenomegaly, Splenomegaly, Otitis media, Left ventricular hypertrophy, Weight loss	ORPHA:576
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Polydipsia, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hypochloremia	OMIM:602522
Fatal Familial Insomnia	Weight loss, Urinary retention	OMIM:600072
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cholelithiasis, Furrowed tongue, Decreased testicular size, Cryptorchidism, Micropenis, High palate	OMIM:300534
Osteosarcoma	Weight loss	ORPHA:668
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria	OMIM:620138
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Prolonged neonatal jaundice, Bradycardia	ORPHA:226313
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Cirrhosis, Polycythemia, Facial telangiectasia, Cerebral hemorrhage,...	OMIM:600376
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Acquired Central Diabetes Insipidus	Weight loss, Pollakisuria	ORPHA:95626
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Cholelithiasis, Recurrent pneumonia, Male urethral meatus stenosis, Furrowed...	ORPHA:464738
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Multiple Endocrine Neoplasia Type 2	Neoplasm of the liver, Pallor	ORPHA:653
Hermansky-Pudlak Syndrome	Weight loss, Renal insufficiency, Neutropenia	ORPHA:79430
Congenitally Corrected Transposition Of The Great Arteries	Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg...	ORPHA:216694
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Exocrine pancreatic insufficiency, Renal insufficiency, Proteinuria...	ORPHA:2750
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Hypoplasia of penis, Cryptorchidism, Congenital hepatic fibrosis, Hydronephrosi...	ORPHA:93271
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Exercise-induced myoglobinuria	OMIM:607155
Somatostatinoma	Intrahepatic cholestasis, Abnormal abdomen morphology, Ascites, Neoplasm of the pancreas, Intermi...	ORPHA:97283
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Ketamine-Induced Biliary Dilatation	Dysuria, Abnormal biliary tract morphology	ORPHA:293807
Williams Syndrome	Mitral regurgitation, Cryptorchidism, Polycystic ovaries, Overriding aorta, Patent ductus arterio...	ORPHA:904
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Abnormality of the urinary system, Tetralogy of Fallot, Cryptorchidism, Hydr...	ORPHA:96092
Esophageal Atresia	Pallor	ORPHA:1199
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Myoglobinuria, Ketonuria	OMIM:616878
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Pheochromocytoma	Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level	OMIM:171300
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria	ORPHA:206549
Frontometaphyseal Dysplasia 2	Bifid uvula, Gastroesophageal reflux, Feeding difficulties in infancy, High palate, Ulcerative co...	OMIM:617137
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Parathyroid Carcinoma	Nephrocalcinosis, Renal hamartoma, Pancreatic adenocarcinoma, Renal insufficiency, Nephroblastoma...	ORPHA:143
8P23.1 Microdeletion Syndrome	Obesity, Weight loss, Hypospadias	ORPHA:251071
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Pneumonia, Acute kidney injury, Inflammatory abnormality of the skin, ...	ORPHA:95455
Acrodermatitis Enteropathica	Failure to thrive, Pustule, Weight loss, Conjunctivitis, Cheilitis, Blepharitis	ORPHA:37
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Bifid uvula, Gastroesophageal reflux, Coarctation of aorta, Cyst of the ductus choledochus, Paten...	OMIM:619480
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie...	OMIM:187300
African Trypanosomiasis	Urinary incontinence, Myelitis, Keratitis, Conjunctivitis, Hepatosplenomegaly, Renal insufficienc...	ORPHA:3385
Trisomy 8P	Bifid uvula, Peripheral pulmonary artery stenosis, Malrotation of small bowel, Annular pancreas, ...	ORPHA:264450
Malignant Atrophic Papulosis	Arteritis, Peritonitis, Weight loss, Abnormality of the lower urinary tract	ORPHA:679
Cimdag Syndrome	Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis	OMIM:619273
Perry Syndrome	Weight loss	OMIM:168605
Tsh-Secreting Pituitary Adenoma	Pallor	ORPHA:91347
Hypothyroidism, Congenital, Nongoitrous, 2	Hyperbilirubinemia, Increased circulating thyroglobulin concentration, Bradycardia	OMIM:218700
Aymé-Gripp Syndrome	Proteinuria, Pericarditis	ORPHA:1272
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Failure to thrive, Low-molecular-weight proteinuria, Stage 5 chronic kidney diseas...	OMIM:309000
Oromandibular Dystonia	Weight loss	ORPHA:93958
Short Syndrome	Weight loss	ORPHA:3163
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cardiomyopathy, Renal dysplasia, Hydronephrosis, Hypoplastic nipples, High palate, Cyst of the du...	ORPHA:480880
Osteogenesis Imperfecta	Aortic regurgitation, Dysphagia, Thrombocytopenia, Cerebral hemorrhage	ORPHA:666
Distal Duplication 5Q	Aplasia/Hypoplasia of the gallbladder, Hypospadias, Eczematoid dermatitis, Cryptorchidism	ORPHA:96097
Familial Colorectal Cancer Type X	Pancreatic adenocarcinoma, Weight loss, Neoplasm of the pancreas, Hepatocellular carcinoma	ORPHA:440437
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Interrupted aortic arch, Anterior pituitary agenesis, Pancreatic hypoplasia, Exocrine pancreatic ...	ORPHA:2255
Norrie Disease	Cachexia, Failure to thrive	ORPHA:649
Pierson Syndrome	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,...	OMIM:609049
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss...	ORPHA:103918
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Hydronephrosis, Moderate albuminuria, Obesity, Periodontitis	OMIM:619269
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Proximal Spinal Muscular Atrophy	Dysphagia, Bradycardia	ORPHA:70
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Choreoacanthocytosis	Acanthocytosis, Splenomegaly, Abnormal erythrocyte enzyme concentration or activity, Weight loss,...	ORPHA:2388
Cerebrotendinous Xanthomatosis	Angina pectoris, Cholelithiasis, Myocardial infarction, Pseudobulbar paralysis	OMIM:213700
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Hematuria, Weight loss, Hepatomegaly, Bronchiectasis	ORPHA:60025
Chronic Graft Versus Host Disease	Urinary bladder inflammation, Fasciitis, Ascites, Pancytopenia, Phimosis, Hematuria, Weight loss,...	ORPHA:99921
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Urinary retention, Nephroblastoma, Cardiomegaly, Bradycardia, C...	ORPHA:97297
Mowat-Wilson Syndrome	Bifid uvula, Submucous cleft of soft and hard palate, Vomiting, Recurrent otitis media, Aganglion...	ORPHA:2152
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypokalemia, Hyponatremia	OMIM:618426
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Tachycardia, Hypertension, Bradycardia	OMIM:614653
Hereditary Late-Onset Parkinson Disease	Weight loss, Spastic/hyperactive bladder	ORPHA:411602
Noonan Syndrome 1	Hypertrophic cardiomyopathy, Juvenile myelomonocytic leukemia, Pulmonic stenosis, Amegakaryocytic...	OMIM:163950
Neurofibroma	Intestinal bleeding, Recurrent otitis media, Enlargement of parotid gland, Abnormal biliary tract...	ORPHA:252183
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Esophagitis, Weight loss, Jaundice, Extrahepatic cholestasis	ORPHA:913
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Steinert Myotonic Dystrophy	Abnormality of the tongue muscle, Cholelithiasis, Elevated circulating hepatic transaminase conce...	ORPHA:273
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Jaundice, Obesity, Moderate albuminuria	OMIM:614231
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss	OMIM:607459
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Weight loss, Small for gestational age	ORPHA:424
Multiple Endocrine Neoplasia Type 1	Thymoma, Insulinoma, Nephrolithiasis, Weight loss, Hypercalciuria, Neoplasm of the pancreas	ORPHA:652
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Self-injurious behavior, Abnormal fear-induced behavior, Emotional labilit...	ORPHA:353281
Lynch Syndrome	Pancreatic adenocarcinoma, Neoplasm of the liver, Weight loss, Renal neoplasm, Neoplasm of the pa...	ORPHA:144
Cerebrotendinous Xanthomatosis	Prolonged neonatal jaundice, Precocious atherosclerosis, Cholelithiasis, Premature coronary arter...	ORPHA:909
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Pallor, Patent ductus arteriosus	ORPHA:99125
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Prolonged neonatal jaundice, Hypoglycemia, Bradycardia	ORPHA:226307
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Congenital Fiber-Type Disproportion Myopathy	Weight loss, Failure to thrive, Aspiration pneumonia	ORPHA:2020
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Self-injurious behavior, Abnormal fear-induced behavior, Emotional labilit...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Self-injurious behavior, Abnormal fear-induced behavior, Emotional labilit...	ORPHA:353277
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria	OMIM:616682
Oculopharyngodistal Myopathy 1	Weight loss	OMIM:164310
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Weight loss, Osteoarthritis	ORPHA:740
Cutis Laxa, Autosomal Recessive, Type Ib	Tricuspid regurgitation, Pulmonary insufficiency, Pulmonary arterial hypertension, Bradycardia	OMIM:614437
Vascular Ehlers-Danlos Syndrome	Transient ischemic attack, Cystocele, Hypokalemia, Telangiectasia of the skin, Internal hemorrhag...	ORPHA:286

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tnip1

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 Tnip1.

No publications found that use IMPC mice or data for Tnip1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Tnip1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Tnip1^{tm33632(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Tnip1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Tnip1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
Tnip1^{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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