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Gene: Ndfip1 MGI:1929601

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

Nedd4 family interacting protein 1

Synonyms:

0610010M22Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ndfip1 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 Ndfip1 (0 diseases)
Human diseases predicted to be associated with Ndfip1 (994 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ndfip1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia	OMIM:615615
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy...	OMIM:613953
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco...	OMIM:615897
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Immunodeficiency 48	Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Pneumonia, Absence of CD8-posi...	OMIM:269840
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon...	OMIM:607271
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin...	OMIM:300400
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Lymphopenia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, E...	ORPHA:169160
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiecta...	OMIM:607594
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, De...	ORPHA:169154
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Asthma, Recu...	OMIM:617585
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb...	OMIM:300853
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Recurrent respiratory infections, Failure to thrive in infancy, Eczema, Oligoarthrit...	OMIM:619510
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L...	OMIM:612840
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati...	ORPHA:397596
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi...	OMIM:615513
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Elevated transferrin saturation	OMIM:205950
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto...	OMIM:209950
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	T lymphocytopenia, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of CD4+CD25+ r...	OMIM:606367
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia...	OMIM:240500
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Pruritus, Splenomegaly, Jaundice, B...	OMIM:617394
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Absence of lymph node germina...	ORPHA:277
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Immunodeficiency 102	Leukopenia, Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody r...	OMIM:301082
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Pruritus, Splenomegaly, Intrahepatic cholestasis, Ja...	OMIM:602347
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hyp...	ORPHA:77297
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Immunodeficiency 32B	Hepatomegaly, Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,...	OMIM:226990
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron	OMIM:603358
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Rec...	OMIM:242700
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
Sézary Syndrome	Hepatomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Pruritus, Splenomegaly, ...	ORPHA:3162
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot...	OMIM:601457
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti...	OMIM:620282
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Acne, Recurrent skin infections, Ap...	OMIM:300635
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Omenn Syndrome	Hepatomegaly, Failure to thrive, Pneumonia, Eosinophilia, Pruritus, Splenomegaly, Leukocytosis, T...	ORPHA:39041
Candidiasis, Familial, 1	Cutaneous anergy	OMIM:114580
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,...	OMIM:619924
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas...	OMIM:617638
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Skin rash, Failure to thrive in infancy, Hepatomegaly	OMIM:619175
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Reduced natural ...	ORPHA:540
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ...	ORPHA:60033
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostas...	OMIM:231100
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi...	OMIM:619220
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc...	ORPHA:824
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase...	OMIM:304790
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Eczema, Failure to thrive in infancy, Decreased proportion of CD8-posi...	OMIM:617241
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit...	ORPHA:139402
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Immunodeficiency 50	Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Neutropenia, Lymp...	OMIM:300988
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul...	ORPHA:100024
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, E...	OMIM:602450
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, He...	OMIM:616100
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Failure to thrive, L...	OMIM:618495
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab...	OMIM:618806
Beta-Thalassemia Intermedia	Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Decreased circulating an...	ORPHA:33355
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Ne...	ORPHA:37042
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi...	ORPHA:911
Pulmonary Blastoma	Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough	ORPHA:64741
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Failure to thrive, Skin rash, Gastritis, Perianal abscess, Bron...	OMIM:618108
Netherton Syndrome	Recurrent respiratory infections, Failure to thrive, Recurrent skin infections, Allergic rhinitis...	OMIM:256500
Immunodeficiency 58	Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi...	OMIM:618131
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased...	OMIM:618986
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Pruritus, Splenomegaly, A...	ORPHA:30391
Agammaglobulinemia 9, Autosomal Recessive	Failure to thrive, Seborrheic dermatitis, Agammaglobulinemia, Absent circulating B cells, Eczemat...	OMIM:619693
Tularemia	Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Le...	ORPHA:3392
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Pruritus, Splenomegaly, Jaundice, Cholestasis, Sclerosing chol...	OMIM:607626
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Autoimmune thromb...	OMIM:614470
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash, Histiocytosis	ORPHA:157997
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Increas...	ORPHA:217390
Hjv Or Hamp-Related Hemochromatosis	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro...	ORPHA:79230
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune...	ORPHA:572
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Cach...	ORPHA:83469
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Recurrent skin infections, Increased circulating IgE level, Recurrent upper respiratory tract inf...	OMIM:618944
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in...	OMIM:616433
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Lymphadenopathy, Decrea...	OMIM:619126
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphadenitis, Decreased proportion of CD3-positive T cells, Decreased cir...	ORPHA:331206
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Erythroderma, Cardiorespiratory arrest, Pruritus	ORPHA:280785
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I...	OMIM:601859
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Recurrent upper respiratory ...	OMIM:618459
Neonatal Hemochromatosis	Increased circulating ferritin concentration, Increased serum iron	ORPHA:446
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho...	OMIM:603909
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T...	OMIM:619824
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Hepatic failure, Anemia	ORPHA:75233
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Failure to thr...	ORPHA:1572
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph...	OMIM:613101
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Pruritus, Granulomatous cholangitis, Ulcerative colitis, Cholestas...	ORPHA:562639
Peeling Skin Syndrome 1	Eosinophilia, Pruritus, Asthma, Increased circulating IgE level, Erythroderma	OMIM:270300
Felty Syndrome	Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur...	ORPHA:47612
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Lymphopenia, Decr...	OMIM:102700
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Schnitzler Syndrome	Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circula...	ORPHA:37748
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem...	OMIM:308240
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased serum iron, Elevated hepatic iron concentration	OMIM:206100
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Failure to thrive, Impaired T cell function, Pneumonia, P...	OMIM:613179
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Biliary tract abno...	ORPHA:79301
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Chronic bronchitis, Cough, Splenomegaly, Dyspnea, Chronic pulmonar...	OMIM:613490
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Pruritus, Abnormality of the spleen, Wheezing, Lymphadenopathy, Abnormality of the ...	ORPHA:79456
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Weig...	ORPHA:391
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l...	OMIM:618987
Immunodeficiency 15A	Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport...	OMIM:618204
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure ...	OMIM:618963
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis	ORPHA:75563
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Mandibular osteomyelitis, Thrombocytop...	OMIM:259710
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Weight loss, Arthritis, Infec...	ORPHA:42642
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Pruritus, Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:86893
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormality of the to...	ORPHA:47
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Biliary tract abnorma...	OMIM:209920
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Respiratory insuff...	OMIM:617021
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf...	ORPHA:444463
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Idiopathic Achalasia	Bronchitis, Wheezing, Weight loss, Cough, Recurrent aspiration pneumonia	ORPHA:930
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti...	OMIM:618394
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Failure to thrive, Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immun...	ORPHA:98813
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, C...	OMIM:615895
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl...	ORPHA:231214
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Weight loss, Hepatomegaly	ORPHA:79238
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Agammaglobulinemia 7, Autosomal Recessive	Recurrent respiratory infections, Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natu...	OMIM:615214
Hemochromatosis, Type 2B	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron	OMIM:613313
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Increased circulating IgE level, Erythroderma, Failure to thrive, Blepharitis	OMIM:614328
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt...	ORPHA:3226
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Hepatomegaly, Recurrent respiratory infections, Recurrent skin infections, Splenomeg...	OMIM:620210
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Increa...	ORPHA:98848
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Abnormali...	ORPHA:2552
Whipple Disease	Hepatomegaly, Myositis, Pericarditis, Cachexia, Myocarditis, Splenomegaly, Mediastinal lymphadeno...	ORPHA:3452
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent pneumo...	OMIM:619752
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha...	OMIM:603552
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk...	OMIM:616576
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi...	OMIM:243700
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,...	OMIM:615122
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,...	OMIM:618282
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tonsils, Bronch...	OMIM:616005
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia	ORPHA:141152
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa...	ORPHA:79124
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th...	OMIM:608184
Immunodeficiency, Common Variable, 7	Recurrent respiratory infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced i...	OMIM:614699
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Pruritus, Jaundice, Weight loss, Cholestatic liver disease, Acholi...	ORPHA:65682
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the th...	ORPHA:83471
Cystic Echinococcosis	Abnormal peritoneum morphology, Abnormality of the testis size, Peritoneal abscess, Biliary tract...	ORPHA:400
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia...	OMIM:619164
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Asthma, Chronic myelomonocyt...	ORPHA:90280
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Nonproductive cough, Leukocytosis, Increased circulating IgE level, Hypereosinophilia, ...	ORPHA:2902
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ...	OMIM:609628
Immunodeficiency 56	Recurrent respiratory infections, Failure to thrive, Cholangitis, Recurrent pneumonia, Bronchiect...	OMIM:615207
Letterer-Siwe Disease	Seborrheic dermatitis, Thrombocytopenia, Jaundice, Dyspnea, Hepatosplenomegaly, Neutropenia, Stom...	OMIM:246400
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, De...	OMIM:614069
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I...	ORPHA:183675
Q Fever	Respiratory distress, Abnormality of the liver, Cholecystitis, Cough, Infectious encephalitis, He...	ORPHA:781
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Autosomal Erythropoietic Protoporphyria	Eczema, Microcytic anemia, Pruritus, Decreased liver function, Cirrhosis, Cholelithiasis	ORPHA:79278
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Thrombocytopenia, S...	ORPHA:905
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Dyspnea, Mediastinal lymphadenopathy, Hypersensitivity pneumo...	ORPHA:133
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Pustule, Overweight, Leukocytosis, Cheilitis, Uveitis, Obesity, Ar...	ORPHA:247353
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology...	ORPHA:50251
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Cronkhite-Canada Syndrome	Splenomegaly, Cachexia, Anemia, Hepatomegaly	ORPHA:2930
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax,...	OMIM:612387
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Cachexia, Respiratory insufficiency	ORPHA:93941
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum...	OMIM:615952
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Pruritus, Splenomega...	OMIM:619868
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Netherton Syndrome	Recurrent respiratory infections, Skin rash, Eczema, Asthma, Increased circulating IgE level, Dec...	ORPHA:634
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Failure to thrive, Cachexia, Weight loss	OMIM:612075
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Hepa...	OMIM:619858
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma	ORPHA:330064
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Bronchiolitis, Periodontitis, Reduction of neutrophil motility, Recurren...	OMIM:266265
Whim Syndrome 1	Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve...	OMIM:193670
Aggressive Systemic Mastocytosis	Pancytopenia, Maculopapular exanthema, Portal hypertension, Pruritus, Hypersplenism, Leukocytosis...	ORPHA:98850
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Failure to thrive, T...	OMIM:617591
Prolidase Deficiency	Hepatomegaly, Chronic lung disease, Eczema, Elevated circulating aspartate aminotransferase conce...	OMIM:170100
Aspergillosis	Sinusitis, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiect...	ORPHA:1163
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Pruritus, Splenomegaly,...	OMIM:211600
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Colitis, Coug...	ORPHA:3260
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron	OMIM:604250
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Hepatomegaly, Failure to thrive, Superficial dermal perivascular inflammato...	ORPHA:83617
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cardiomegaly, Decreased liver function, He...	ORPHA:42
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Decreased circulating antibody level, Erythroderma, Lymphopenia, Hepatic cysts	OMIM:617425
Zinc Deficiency, Transient Neonatal	Decreased serum zinc	OMIM:608118
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Skin rash, Reduced natural killer cell activity, Diffuse alveola...	OMIM:616050
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	ORPHA:766
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis...	ORPHA:298
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Perianal abscess, Lymphadenitis, Splenomeg...	OMIM:618935
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neona...	OMIM:214900
Agammaglobulinemia, X-Linked	T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ...	OMIM:300755
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, H...	OMIM:614480
Brucellosis	Liver abscess, Bronchitis, Knee osteoarthritis, Increased circulating IgG level, Leukopenia, Abno...	ORPHA:1304
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Autoimmune hemolytic ane...	OMIM:614162
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Splenomegaly, Hypere...	OMIM:615387
Melioidosis	Foot osteomyelitis, Unusual skin infection, Liver abscess, Lung abscess, Pneumonia, Brain abscess...	ORPHA:31202
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C...	ORPHA:1164
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect...	OMIM:615518
Roifman Syndrome	Eczema, Eosinophilia, Recurrent pneumonia, Decreased circulating antibody level, Hepatosplenomega...	ORPHA:353298
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Failure to thrive, Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymph...	OMIM:242860
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Failure to thrive, Aspiration pneumonia	OMIM:609528
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Sterile arthritis, Hepatosplenomegaly, Art...	OMIM:604416
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti...	ORPHA:79147
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma, Failure to thrive	OMIM:227090
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen...	ORPHA:443811
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Pruritus, Sple...	ORPHA:53035
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul...	OMIM:618969
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Respiratory insuff...	ORPHA:848
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Lymphoid Interstitial Pneumonia	Crackles, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infect...	ORPHA:79128
Idiopathic Copper-Associated Cirrhosis	Increased circulating copper concentration, Decreased circulating ceruloplasmin concentration	ORPHA:209919
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized l...	ORPHA:829
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Eczema, Pruritus, Cholelithiasis, Hepatic failure	OMIM:177000
Aredyld Syndrome	Splenomegaly, Cachexia, Hepatomegaly	ORPHA:1133
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Immunodeficiency 12	Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count,...	OMIM:615468
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocy...	OMIM:301078
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Cough, Bronchiectasis, Decreased nasal nitric oxide, Re...	OMIM:612444
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve...	OMIM:618523
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh...	ORPHA:545
Acute Myelomonocytic Leukemia	Eosinophilia, Dyspnea, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c...	OMIM:615482
Pityriasis Rubra Pilaris	Pruritus, Pustule, Eczema, Erythroderma	ORPHA:2897
Gracile Syndrome	Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ...	ORPHA:53693
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal...	ORPHA:232
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic...	OMIM:259720
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Pruritus, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte mor...	ORPHA:2584
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob...	OMIM:617780
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Respiratory insufficiency	ORPHA:157973
Immunodeficiency 66	Pustule, Defective T cell proliferation, Recurrent skin infections	OMIM:618847
Meckel Syndrome, Type 7	Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d...	OMIM:267010
Bone Marrow Failure Syndrome 4	Recurrent respiratory infections, Eczema, Thrombocytopenia, Decreased circulating antibody level,...	OMIM:618116
Immunodeficiency 96	Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T...	OMIM:619774
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Apnea, Seborrheic dermatitis, Splenomegaly, T...	OMIM:253260
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Pruritus, Splenomega...	OMIM:619849
Tuberculosis	Abnormal lung morphology, Weight loss, Cough	ORPHA:3389
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abno...	OMIM:181000
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi...	OMIM:619375
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Neonatal Alloimmune Neutropenia	Jaundice, Neutropenia in presence of anti-neutropil antibodies, Pneumonia	ORPHA:464370
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Intellectual Developmental Disorder, Fra12A Type	Recurrent lower respiratory tract infections, Erythroderma	OMIM:136630
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap...	OMIM:611762
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Increased circulating antibody level, Weight loss	ORPHA:411593
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti...	OMIM:307200
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec...	OMIM:147060
Microlissencephaly	Pneumonia	ORPHA:1083
Amyloidosis, Familial Visceral	Splenomegaly, Skin rash, Cholestasis, Hepatomegaly	OMIM:105200
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Pustular rash, Bro...	OMIM:619381
Copper Deficiency, Familial Benign	Failure to thrive, Anemia, Seborrheic dermatitis	OMIM:121270
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Failure to thrive, Respiratory insufficiency	ORPHA:1954
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Failure to thrive, Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidias...	ORPHA:275
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Conjunctivitis, Cirrhosis, Erythroderma, Failure to thrive	OMIM:242150
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili...	OMIM:615508
Ige Responsiveness, Atopic	Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,...	ORPHA:228119
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Erythroderma	ORPHA:312
Moynahan Syndrome	Cachexia	ORPHA:2574
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Pruritus, Splenomegaly, Jaundice, ...	OMIM:619658
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Increased circulating ...	OMIM:618048
Congenital Ichthyosiform Erythroderma	Keratitis, Failure to thrive, Erythroderma, Pruritus	ORPHA:79394
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Pruritus, Neonatal asphyxia, Asthma, Erythroderma	OMIM:608649
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Leukopenia, Monocytosis, Bone marrow h...	OMIM:616871
Hemochromatosis, Type 2A	Increased circulating ferritin concentration, Increased serum iron	OMIM:602390
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula...	OMIM:618042
Mednik Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	ORPHA:171851
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ...	ORPHA:69663
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse...	ORPHA:79127
Kaposi Sarcoma	Generalized lymphadenopathy, Skin rash, Abnormality of the spleen, Abnormal lung morphology, Weig...	ORPHA:33276
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Bone-marrow foa...	ORPHA:275761
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Thrombocytosis, Anemia of ...	ORPHA:75564
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenomegaly, Abnorm...	ORPHA:77259
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Meckel Syndrome, Type 6	Absent gallbladder, Bilobed right lung, Cystic liver disease, Bile duct proliferation, Hepatic fi...	OMIM:612284
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat...	ORPHA:39812
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly...	OMIM:614576
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic...	OMIM:619991
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan...	ORPHA:54251
Immunodeficiency 43	Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,...	OMIM:241600
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased serum iron	OMIM:212050
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the...	ORPHA:171
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Pulmonary hypoplasia, Abnormal li...	ORPHA:3032
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, Bile duct prolifer...	OMIM:618329
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Pancytopenia, Failure to thrive, Small for gestational age, Slende...	OMIM:613658
Bile Acid Synthesis Defect, Congenital, 5	Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia	OMIM:616278
Alveolar Echinococcosis	Liver abscess, Pulmonary cyst, Cholangitis, Eosinophilia, Portal hypertension, Hepatic cysts, Pan...	ORPHA:284
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Increased hepatitis B virus antibo...	ORPHA:90003
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Cough, Wheez...	OMIM:613807
Ichthyosis With Confetti	Pruritus, Decreased body weight, Hypoplastic nipples, Erythroderma	OMIM:609165
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,...	ORPHA:486
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Failure to thrive in infancy, Pustule, Wheezing, Recurrent tonsillitis, Atopic der...	ORPHA:171876
Mirizzi Syndrome	Elevated hepatic transaminase, Jaundice, Gallbladder perforation, Cholesterol gallstones, Choleli...	ORPHA:521219
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Elevated transferrin saturation	OMIM:606069
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Mem...	OMIM:618999
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Splenomegaly, Cholestasis, Bile duct ...	OMIM:261515
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo...	OMIM:617388
Primary Intestinal Lymphangiectasia	Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Abnormal lymphatic vessel...	ORPHA:90362
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re...	OMIM:615139
Mcdonough Syndrome	Cryptorchidism, Cachexia	ORPHA:2471
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia	OMIM:254120
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Recurrent otitis media, R...	OMIM:620321
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect...	ORPHA:169105
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Acne, Elevated circulating growth hormone concentration, Seborrheic ...	ORPHA:2796
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated hepatic i...	OMIM:615234
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli...	OMIM:619705
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti...	OMIM:601495
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts...	OMIM:208500
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lympho...	ORPHA:99867
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Breathing dysregulation	OMIM:610688
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Recurrent upper resp...	OMIM:614868
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Skin rash, Aplastic ...	ORPHA:398124
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Recurrent respiratory infections, Cachexia	ORPHA:1389
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Respiratory insufficiency, Lymphadenopathy, Weight loss, Inflamma...	ORPHA:26790
Riboflavin Transporter Deficiency	Cachexia, Respiratory insufficiency	ORPHA:97229
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Myositis, Recurrent respiratory infections, Skin rash, Failure to thrive, Increased ...	OMIM:615934
Aceruloplasminemia	Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron	OMIM:604290
Boutonneuse Fever	Elevated hepatic transaminase, Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Lymp...	ORPHA:83313
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Abnormal immunoglobulin level	ORPHA:90159
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Avian Influenza	Elevated hepatic transaminase, Respiratory distress, Pneumonia, Productive cough, Thrombocytopeni...	ORPHA:454836
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun...	ORPHA:100026
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Slc35A1-Cdg	Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu...	ORPHA:238459
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp...	ORPHA:36238
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Rigid Spine Syndrome	Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency	ORPHA:97244
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233710
Christianson Syndrome	Cachexia	ORPHA:85278
Igg4-Related Aortitis	Increased inflammatory response, Increased circulating IgG4 level, Asthma, Increased circulating ...	ORPHA:449400
Crigler-Najjar Syndrome Type 1	Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice	ORPHA:79234
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Increased circulating IgA level, Asthma, Increased circulating IgE level, Pleura...	OMIM:619632
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic otitis media, T...	ORPHA:169090
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Hepatomegaly, Ascites, Weight loss	ORPHA:2198
Renpenning Syndrome	Decreased testicular size, Cachexia	ORPHA:3242
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Lymphadenopathy, Pleural e...	ORPHA:85414
Immunodeficiency 17	Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD...	OMIM:615607
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoventilation, Failure to t...	OMIM:203700
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c...	ORPHA:69126
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Recurrent pneumonia, Bili...	OMIM:613610
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Congen...	ORPHA:436252
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Pruritus, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis,...	OMIM:601847
Rat-Bite Fever	Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly...	ORPHA:31205
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis	OMIM:300752
Eosinophilic Gastroenteritis	Eosinophilia, Allergic rhinitis, Leukocytosis, Asthma, Atopic dermatitis, Weight loss, Ascites, A...	ORPHA:2070
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Dubin-Johnson Syndrome	Jaundice, Biliary tract abnormality	OMIM:237500
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Truncal obesity, Aspir...	OMIM:301072
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Dyspnea, Bronchie...	OMIM:620233
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
Rhabdoid Tumor	Respiratory insufficiency, Lymphadenopathy, Anemia, Neoplasm of the liver, Weight loss, Thrombocy...	ORPHA:69077
Cinca Syndrome	Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Arthritis, A...	OMIM:607115
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Erythroderma	OMIM:618840
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Fai...	OMIM:615816
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Pneumonia, Chilblains, Hepatomegal...	OMIM:615846
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Decreased response to growt...	ORPHA:811
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:233690
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi...	OMIM:615451
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas...	ORPHA:51636
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Cd8 Deficiency, Familial	Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis	OMIM:608957
Lamellar Ichthyosis	Chronic otitis media, Recurrent respiratory infections, Pruritus, Erythroderma	ORPHA:313
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf...	ORPHA:2686
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Pruritus, Sp...	ORPHA:98849
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Weight loss, Arthritis, Inflam...	ORPHA:324964
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas...	ORPHA:3261
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media...	OMIM:616726
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell...	OMIM:603553
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Recurrent pneumonia, B...	OMIM:617092
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Failure to thrive, ...	OMIM:615512
Scedosporiosis	Unusual skin infection, Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, ...	ORPHA:449280
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis, Erythroderma	OMIM:604777
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Small for gestational age, Aspiration pneumonia	OMIM:619057
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Pneumonia, Elevated circulating growth hormo...	ORPHA:97287
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Acute colitis, Lung abscess, Dyspnea, Leukocytosis,...	ORPHA:67
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma	OMIM:133200
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Bloom Syndrome	Bronchitis, Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-p...	ORPHA:125
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive, Skin rash, Failu...	OMIM:610377
Meckel Syndrome, Type 5	Bile duct proliferation	OMIM:611561
Laryngeal Neuroendocrine Tumor	Weight loss, Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Exertiona...	ORPHA:100083
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Inflammatory abnormality of the skin, Macrocyti...	ORPHA:398063
Eosinophilic Fasciitis	Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis	ORPHA:3165
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau...	OMIM:603903
Epidermolytic Hyperkeratosis 1	Erythroderma	OMIM:113800
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L...	OMIM:618213
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Leukoc...	ORPHA:1302
Erythroderma Desquamativum	Failure to thrive, Seborrheic dermatitis	ORPHA:314
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Splenomegal...	OMIM:607765
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ...	ORPHA:228123
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:306400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytop...	ORPHA:2072
Riddle Syndrome	Generalized lymphadenopathy, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnor...	ORPHA:420741
Systemic Capillary Leak Syndrome	Pericarditis, Rhinorrhea, Myocarditis, Leukocytosis, Cardiorespiratory arrest, Weight loss, Cough...	ORPHA:188
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615504
Harlequin Ichthyosis	Recurrent respiratory infections, Respiratory insufficiency, Erythroderma	ORPHA:457
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega...	OMIM:260920
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma	OMIM:615024
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans...	OMIM:278000
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Epidermolytic Hyperkeratosis 2	Erythroderma	OMIM:620150
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Skin rash, Pneumonia, Abnormality of body weight, Increased circulating IgA lev...	ORPHA:2298
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti...	OMIM:244400
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Pr...	ORPHA:64743
Neuropathy, Congenital Hypomyelinating, 3	Cachexia, Respiratory failure, Respiratory insufficiency	OMIM:618186
Chronic Granulomatous Disease	Hepatomegaly, Recurrent respiratory infections, Sinusitis, Liver abscess, Eczema, Abnormality of ...	ORPHA:379
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Failure to thrive in infancy, Increased circulating IgA level, Leukocyto...	OMIM:617099
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Increased circulating myelocyte ...	ORPHA:36234
Macrophage Activation Syndrome	Increased inflammatory response, Hepatomegaly, Elevated circulating aspartate aminotransferase co...	ORPHA:158061
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Recurrent respiratory infections, Respiratory insufficiency, Weight loss, Failure t...	ORPHA:1842
Pelizaeus-Merzbacher Disease	Recurrent respiratory infections, Cachexia, Failure to thrive in infancy, Respiratory insufficiency	ORPHA:702
Congenital Dyserythropoietic Anemia Type Iii	Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia	ORPHA:98870
Trichothiodystrophy 1, Photosensitive	Small for gestational age, Asthma, Keratoconjunctivitis sicca, Erythroderma, Decreased circulatin...	OMIM:601675
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Decreased transferrin saturation, Increased circulating ferritin concentration, Increased serum i...	ORPHA:300298
Hereditary Orotic Aciduria	Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia	ORPHA:30
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Meckel Syndrome, Type 2	Bile duct proliferation	OMIM:603194
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Pruritus, Intrahepatic cholestasis, Jaundice, Cholelithiasis	OMIM:605479
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia	OMIM:613280
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Failure to thrive in ...	OMIM:612852
Ichthyosis, Hystrix-Like, With Deafness	Punctate keratitis, Erythroderma	OMIM:602540
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Irida Syndrome	Decreased circulating copper concentration	ORPHA:209981
Retinitis Pigmentosa 89	Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly	OMIM:618955
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro...	ORPHA:465508
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Leukocytosis, Increased DLCO, Weight...	ORPHA:90060
Digeorge Syndrome	Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t...	OMIM:188400
Congenital Disorder Of Glycosylation, Type Iiq	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:617395
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Impaired T cell function, Splenomegaly, Failure to thrive, Decreased testicular size	OMIM:201100
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,...	OMIM:608233
Pemphigus Foliaceus	Psoriasiform dermatitis, Pruritus, Pustule, Crusting erythematous dermatitis, Erythroderma	ORPHA:79481
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Cachexia, Supernumerary nipple, Cryptorchidism, Failure to thrive	ORPHA:217346
Meckel Syndrome, Type 4	Bile duct proliferation	OMIM:611134
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Lymphadenopath...	ORPHA:50918
Schimke Immuno-Osseous Dysplasia	Failure to thrive, Small for gestational age, Impaired T cell function, Minimal change glomerulon...	ORPHA:1830
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Decreased serum iron	ORPHA:391372
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra...	OMIM:232800
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Holocarboxylase Synthetase Deficiency	Respiratory distress, Eczema, Tachypnea, Keratoconjunctivitis, Weight loss, Thrombocytopenia, Per...	ORPHA:79242
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Ciliary Dyskinesia, Primary, 7	Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Restrictive ventilatory defect...	OMIM:611884
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Leukocytosis, Decreased cir...	OMIM:615688
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino...	ORPHA:293173
Shigellosis	Failure to thrive in infancy, Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombo...	ORPHA:810
Huppke-Brendel Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:614482
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc	OMIM:601979
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest...	ORPHA:79332
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615505
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Cog2-Cdg	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	ORPHA:435934
Nocardiosis	Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem...	ORPHA:31204
Dietary Iron Overload Disease	Increased circulating ferritin concentration, Hepatic periportal necrosis, Elevated transferrin s...	ORPHA:139507
Osteootohepatoenteric Syndrome	Pruritus, Microvesicular hepatic steatosis, Asthma, Cholestasis, Weight loss, Portal fibrosis, He...	OMIM:619377
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hemolytic anemia, Acute pancreatitis, Pericarditis, Hepatomegaly, ...	OMIM:619487
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, F...	ORPHA:264675
Congenital Disorder Of Glycosylation, Type If	Failure to thrive, Erythroderma	OMIM:609180
Transketolase Deficiency	Hepatomegaly, Conjunctivitis, Uveitis, Seborrheic dermatitis	ORPHA:488618
Primary Biliary Cholangitis	Portal hypertension, Increased circulating IgA level, Pruritus, Jaundice, Hepatic failure, Hepati...	ORPHA:186
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Eczema, Thyroiditis, Weight loss, Iron deficien...	OMIM:212750
Tetrasomy 12P	Cachexia	ORPHA:884
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp...	ORPHA:178320
Gaucher Disease, Type Ii	Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Failure to thrive, Recu...	OMIM:230900
Yellow Nail Syndrome	Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Bronchiectasis, Neo...	ORPHA:662
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Asthma, Weight loss, Arthritis, Ke...	OMIM:617321
Epidermodysplasia Verruciformis	Pustule, Recurrent skin infections, Seborrheic dermatitis	ORPHA:302
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss	ORPHA:99978
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc...	ORPHA:555905
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Recurrent respiratory infections, Skin rash, Perianal abscess, Weight loss, Ar...	OMIM:301074
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Polycythemia Vera	Hepatomegaly, Epistaxis, Portal hypertension, Pulmonary embolism, Pruritus, Splenomegaly, Portal ...	ORPHA:729
Obesity Due To Congenital Leptin Deficiency	Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Obesity, Hypoplasia of th...	ORPHA:66628
Takayasu Arteritis	Increased inflammatory response, Weight loss, Arthritis, Pulmonary arterial hypertension, Inflamm...	ORPHA:3287
Gcgr-Related Hyperglucagonemia	Stomatitis, Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas	ORPHA:438274
Bleeding Disorder, Platelet-Type, 21	Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced platelet ag...	OMIM:617443
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Complement Factor B Deficiency	Peritonitis, Pneumonia	OMIM:615561
Igg4-Related Kidney Disease	Lymphadenitis, Abnormal lung morphology, Increased circulating IgG level, Tubulointerstitial neph...	ORPHA:449395
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Mixed Connective Tissue Disease	Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Hepatomegaly, Myocarditis, Spleno...	ORPHA:809
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anemia of inadequate ...	OMIM:224120
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br...	OMIM:618699
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Anemia	OMIM:175500
Listeriosis	Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ...	ORPHA:533
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ...	ORPHA:101096
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615500
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ...	ORPHA:91139
Obesity Due To Leptin Receptor Gene Deficiency	Recurrent upper respiratory tract infections, Pituitary hypothyroidism, Obesity, Hypoplasia of th...	ORPHA:179494
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ...	OMIM:610910
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp...	ORPHA:514
Ichthyosis, Congenital, Autosomal Recessive 1	Erythroderma	OMIM:242300
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Respiratory di...	ORPHA:26793
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasi...	ORPHA:2357
Spinocerebellar Ataxia 34	Erythroderma	OMIM:133190
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Leukopenia, Interstitial pneumoniti...	OMIM:127550
Erythrokeratodermia Variabilis	Abnormal testis morphology, Skin rash, Weight loss	ORPHA:317
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:616481
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Recurrent resp...	ORPHA:647
Oculopharyngodistal Myopathy	Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir...	ORPHA:98897
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Granuloma, Abnormality of neutrophil physiology	ORPHA:542592
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Trichothiodystrophy	Congenital exfoliative erythroderma, Eczema, Recurrent bronchopulmonary infections, Cryptorchidis...	ORPHA:33364
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Hepatitis, Chr...	ORPHA:227990
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Thrombocytopenia, Leukocy...	ORPHA:520
Malignant Peritoneal Mesothelioma	Dyspnea, Peritonitis, Ascites, Weight loss	ORPHA:168811
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRCT, Nonprod...	ORPHA:79126
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
Cystic Fibrosis	Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recu...	OMIM:219700
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatitis, Pulmo...	ORPHA:70578
Poems Syndrome	Respiratory insufficiency due to muscle weakness, Abnormality of skin physiology, Lymphadenopathy...	ORPHA:2905
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop...	ORPHA:35858
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia...	ORPHA:227982
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatomegaly,...	OMIM:619534
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Myositis, Biliary atresia	ORPHA:565899
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Bathing Suit Ichthyosis	Erythroderma	ORPHA:100976
Hemochromatosis, Type 1	Increased circulating ferritin concentration, Increased serum iron	OMIM:235200
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De...	ORPHA:48818
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Small for gestational age, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia...	OMIM:618253
Al Amyloidosis	Hepatomegaly, Howell-Jolly bodies, Nonproductive cough, Dyspnea, Abnormal pulmonary interstitial ...	ORPHA:85443
Trichohepatoenteric Syndrome 2	Decreased serum iron	OMIM:614602
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn...	OMIM:608647
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Uveitis, Enthesitis, Arthritis, He...	ORPHA:85408
Subaortic Stenosis-Short Stature Syndrome	Biliary tract abnormality, Acne, Obesity, Respiratory insufficiency	ORPHA:3191
Hermansky-Pudlak Syndrome 9	Recurrent skin infections, Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Psoriasis 14, Pustular	Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Oligoarthritis	OMIM:614204
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Alpha-Mannosidosis, Adult Form	Pancytopenia, Pneumonia, Hepatosplenomegaly	ORPHA:309288
Tarp Syndrome	Extramedullary hematopoiesis, Apnea, Cryptorchidism, Pulmonary hypoplasia, Failure to thrive	ORPHA:2886
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Sinusitis, Recurrent bronchitis,...	OMIM:208900
Inflammatory Bowel Disease (Crohn Disease) 1	Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit...	OMIM:266600
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Cryptorchidis...	OMIM:249000
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Acne, Impaired T cell function, Abnormality of the tonsils, Seborrheic dermat...	ORPHA:567
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Neonatal respiratory distress, Psoriasiform dermatitis, Decreased lymph...	ORPHA:221139
Infantile Krabbe Disease	Respiratory distress, Respiratory failure, Failure to thrive, Cachexia	ORPHA:206436
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ...	OMIM:608710
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Psoriasiform dermatitis, Severe B lymphocytopenia, Decreased response to growt...	ORPHA:293978
Familial Benign Copper Deficiency	Decreased circulating copper concentration	ORPHA:1551
Monosomy 22	Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia, Seborrheic dermatitis	ORPHA:96123
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re...	OMIM:613808
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Lymphadenopathy, Neoplasm of the lung, Abnormal liver parenchyma mor...	ORPHA:1332
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Recurrent intrapul...	ORPHA:183
Ichthyosis, Congenital, Autosomal Recessive 9	Erythroderma	OMIM:615023
Rett Syndrome	Apnea, Cachexia, Intermittent hyperventilation	OMIM:312750
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Decreased testicular size	ORPHA:813
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa...	ORPHA:29073
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Failure to thrive, Ascites, Cachexia	OMIM:610965
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Upper airway obstruction, Hepatosplenomegaly, Cholel...	ORPHA:3166
Polymyositis	Hepatomegaly, Pericarditis, Abnormal pulmonary interstitial morphology, Respiratory insufficiency...	ORPHA:732
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Skin rash, Elevated circulating growth hormone concentrat...	ORPHA:97280
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor, Neoplasm of th...	ORPHA:142
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration	ORPHA:521411
Nephroblastoma	Neoplasm of the lung, Neoplasm of the liver, Weight loss, Lymphadenopathy	ORPHA:654
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Slender build, Anemia	ORPHA:1328
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu...	OMIM:612301
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Weight loss	ORPHA:703
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Pelvic mass, Pruritus, Jaundice, Ovarian neoplasm, Weight loss, Ascites...	ORPHA:370348
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Recurrent upper respiratory t...	OMIM:210900
X-Linked Dominant Chondrodysplasia Punctata	Abnormal lung morphology, Erythroderma	ORPHA:35173
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Acne, Seborrheic dermatitis	OMIM:614441
Familial Thrombocytosis	Acute myeloid leukemia, Pruritus, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Pulmon...	ORPHA:71493
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Skin rash, Pneumonia, Nodular regenerative hyperplasia of liver, Normochromic ...	ORPHA:247691
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis	OMIM:614156
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep...	ORPHA:1333
Trichohepatoenteric Syndrome 1	Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis	OMIM:222470
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Hepatosple...	OMIM:274000
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia	ORPHA:309108
Fanconi Anemia, Complementation Group F	Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Anemia, Leukope...	OMIM:603467
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Hyperglycinemia, Increased total iron binding capa...	ORPHA:309854
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir...	ORPHA:60025
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Tubuloint...	ORPHA:289390
Dubin-Johnson Syndrome	Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality	ORPHA:234
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Ichthyosis, Congenital, Autosomal Recessive 6	Erythroderma	OMIM:612281
Chondrodysplasia Punctata 2, X-Linked Dominant	Failure to thrive, Erythroderma	OMIM:302960
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chroni...	OMIM:240300
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Cachexia	ORPHA:220295
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocyto...	ORPHA:391487
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Inte...	ORPHA:95430
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Mirage Syndrome	Thrombocytopenia, Cryptorchidism, Leukopenia, Aspiration pneumonia, Decreased body weight, Hypopl...	OMIM:617053
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis	OMIM:610227
Castleman Disease	Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,...	ORPHA:160
Methylmalonic Acidemia With Homocystinuria Type Cblf	Skin rash, Megaloblastic anemia, Reduced number of intrahepatic bile ducts, Neutropenia, Stomatit...	ORPHA:79284
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Apnea, Leukocytosis, Jaundice, T...	ORPHA:20
Sarcoidosis	Increased T cell count, Abnormal lung morphology, Uveitis, Tubulointerstitial nephritis, Leukopen...	ORPHA:797
X-Linked Intellectual Disability, Cabezas Type	Decreased testicular size, Cachexia, Obesity	ORPHA:85293
Juvenile Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:300605
Cryptococcosis	Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H...	ORPHA:1546
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response to growth hor...	ORPHA:1855
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Primary testicular failure, Hepatosplenomegaly, Lymphadenopathy, Tubulointerstitial...	ORPHA:85450
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Failure to thrive...	OMIM:242840
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti...	ORPHA:73263
X-Linked Creatine Transporter Deficiency	Cachexia	ORPHA:52503
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Abnormal circulating porphyrin concentration, Incre...	ORPHA:101330
Loeffler Endocarditis	Pericarditis, Eosinophilia, Dyspnea, Weight loss, Cough, Left ventricular hypertrophy	ORPHA:75566
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arth...	OMIM:249100
Thymic Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Pituitary null cell adenoma...	ORPHA:97289
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr...	ORPHA:79078
Oculogastrointestinal Muscular Dystrophy	Cachexia	ORPHA:1876
Granulomatosis With Polyangiitis	Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Recurrent intrapulmonary hem...	ORPHA:900
Cockayne Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cachexia, Splenomegaly, Cryptorchidism, Keratoconjun...	ORPHA:191
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Seborrheic dermatitis, Large for gestational age, Microvesicular hepatic steatosis,...	OMIM:300868
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Neutropenia, Lymphadeno...	OMIM:607944
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati...	ORPHA:70588
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Small for gestational age, Normochromic anemia, Cholelithiasis, Thrombocytopenia, Hyperventilation	OMIM:618775
Chronic Hiccup	Weight loss	ORPHA:396
Wild Type Attr Amyloidosis	Hepatomegaly, Abnormal pulmonary interstitial morphology, Weight loss, Pleural effusion, Pulmonar...	ORPHA:330001
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Recurrent respiratory infections, Abnormali...	ORPHA:36426
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Failure to thrive, Pancreatitis, Aspiration pneumonia	ORPHA:431361
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Gm1 Gangliosidosis	Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Weight loss, Aspiration pneum...	ORPHA:354
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Pulmonary embolism, Orchitis, Retr...	ORPHA:117
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ...	ORPHA:209902
Ameloonychohypohidrotic Syndrome	Seborrheic dermatitis	OMIM:104570
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Arthritis, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:259100
Timothy Syndrome	Pulmonary arterial hypertension, Pneumonia, Bronchitis, Cardiomegaly	OMIM:601005
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Cholestatic liver disease, Cholelithiasis	ORPHA:79095
Bannayan-Riley-Ruvalcaba Syndrome	Hashimoto thyroiditis, Cachexia	ORPHA:109
Hennekam-Beemer Syndrome	Pneumonia, Pruritus, Respiratory insufficiency, Mastocytosis, Failure to thrive	ORPHA:2135
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla...	ORPHA:97261
Thymic Carcinoma	Neoplasm of the thymus, Mediastinal lymphadenopathy, Dyspnea, Weight loss, Cough	ORPHA:99868
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Failure to thrive, Seborrheic dermatitis	OMIM:210210
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Respiratory distress, Recurrent respiratory...	ORPHA:537
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Weight loss, Testicular teratoma	ORPHA:764
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnitine conc...	ORPHA:89842
Isaacs Syndrome	Weight loss	ORPHA:84142
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pruritus, Splenomegaly, Erythema nodosum, Jaundice, ...	OMIM:613471
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad...	OMIM:617718
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Respir...	ORPHA:97282
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Acne, Seborrheic dermatitis	OMIM:167100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Restrictive ventilatory defect, Pneumonia, Right ventricular hypertrophy	OMIM:253700
Congenital Tufting Enteropathy	Weight loss, Arthritis, Cholestatic liver disease, Punctate keratitis, Failure to thrive	ORPHA:92050
Tropical Endomyocardial Fibrosis	Hepatomegaly, Orthopnea, Eosinophilia, Cachexia, Cardiomegaly, Splenomegaly, Dyspnea, Pulmonary v...	ORPHA:75565
Erdheim-Chester Disease	Osteomyelitis, Skin rash, Retroperitoneal fibrosis, Dyspnea, Abnormal pulmonary interstitial morp...	ORPHA:35687
Attrv30M Amyloidosis	Weight loss, Cardiomegaly	ORPHA:85447
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97278
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97283
Thrombocytopenia 1	Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased me...	OMIM:313900
Polyarteritis Nodosa	Pericarditis, Abnormal lung morphology, Pleuritis, Weight loss	ORPHA:767
Schwartz-Jampel Syndrome	Apnea, Cachexia, Respiratory insufficiency, Testicular torsion, Decreased body weight, Pulmonary ...	ORPHA:800
Beta-Ketothiolase Deficiency	Hepatomegaly, Leukocytosis, Tachypnea, Weight loss, Cough, Thrombocytosis	ORPHA:134
Syndromic Diarrhea	Patent ductus arteriosus, Abnormality of iron homeostasis	ORPHA:84064
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Lymphadenitis, Salmonella osteomyelitis, Pneumonia	ORPHA:319552
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Aspiration pneumonia, Cough	ORPHA:216866
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Weight loss	OMIM:191390
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th...	ORPHA:454831
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Abnormality of the pineal gland, Eczema, Seborrheic dermatitis, Obesity, Failure to thrive	ORPHA:369950
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100080
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Mucoepithelial Dysplasia, Hereditary	Eosinophilia, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv...	OMIM:158310
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis, Abnormality of the lymphatic system, Hydrocele testis, Ovarian serous cyst...	ORPHA:276280
Secondary Short Bowel Syndrome	Failure to thrive, Enterocolitis, Cholestasis, Weight loss	ORPHA:95427
Malt Lymphoma	Recurrent respiratory infections, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Post...	ORPHA:52417
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Eosinophilia, Pituitary adenoma, Adreno...	ORPHA:199299
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Left ventricular hypertrophy, Hepatomegaly, Aspiration pneumonia	OMIM:619167
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr...	ORPHA:103918
Juvenile Polyposis Of Infancy	Refractory anemia, Cachexia, Anemia	ORPHA:79076
Graves Disease, Susceptibility To, 1	Abnormal abdomen morphology, Weight loss, Goiter	OMIM:275000
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:603041
Huntington Disease-Like 2	Weight loss	OMIM:606438
Juvenile Neuronal Ceroid Lipofuscinosis	Apnea, Episodic tachypnea, Aspiration pneumonia	ORPHA:79264
Geleophysic Dysplasia 3	Dyspnea, Hepatomegaly, Respiratory failure, Pneumonia	OMIM:617809
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Pelvic mass, Weight loss, Neoplasm of the lung, Neoplasm of the l...	ORPHA:2126
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased serum iron	OMIM:616959
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Recurrent respiratory infections, Cryptorchidism, Recurrent upper respiratory tract infections, D...	OMIM:300534
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Respiratory distress, Glomerulonephritis, Pneumonia, Epistaxis, Th...	ORPHA:340
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Pruritus, Splenomegaly, Recurrent pancreatitis, Decreased liver function, Hypoplast...	OMIM:618268
Trisomy 18	Cryptorchidism, Cachexia	ORPHA:3380
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Conjunctivitis, Cholelithiasis, Thrombocy...	OMIM:263700
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100075
Senior-Boichis Syndrome	Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con...	ORPHA:84081
Ménétrier Disease	Giant hypertrophic gastritis, Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Hereditary Hemorrhagic Telangiectasia	Epistaxis, Portal hypertension, Microcytic anemia, Pulmonary embolism, Pulmonary arterial hyperte...	ORPHA:774
Myotonic Dystrophy 1	Respiratory distress, Cholelithiasis, Testicular atrophy	OMIM:160900
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo...	ORPHA:98905
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Hereditary Bullous Dystrophy, Macular Type	Decreased testicular size, Cryptorchidism, Pneumonia	ORPHA:1867
Chops Syndrome	Splenomegaly, Cryptorchidism, Obesity, Anomalous pulmonary venous return, Aspiration pneumonia, T...	OMIM:616368
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Respiratory failure requiring assisted ventilation, Autoimmune thrombocytopenia, Hy...	ORPHA:77293
Plague	Respiratory distress, Chapped lip, Hepatomegaly, Skin rash, Erythema nodosum, Lymphadenitis, Sple...	ORPHA:707
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ...	ORPHA:100082
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Pulmonary embolism, Enlarged polycystic ovaries, Splenom...	ORPHA:744
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration	OMIM:620306
Reactive Arthritis	Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Respiratory insufficiency, Enth...	ORPHA:29207
Giant Cell Arteritis	Pericarditis, Epistaxis, Abnormal pleura morphology, Mediastinal lymphadenopathy, Recurrent phary...	ORPHA:397
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Cholelithiasis, Hepatic failure, Decreased body weight	OMIM:614886
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Splenomegaly, Dyspnea, Vacuolated lymphocytes...	ORPHA:565612
16P12.1P12.3 Triplication Syndrome	Abnormal intrahepatic bile duct morphology, Bilateral cryptorchidism, Failure to thrive, Decrease...	ORPHA:485405
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Pneumonia, Respiratory tract infection, Myocarditis, Leukocytosi...	ORPHA:544482
Marfan Syndrome	Arthralgia/arthritis, Spontaneous pneumothorax, Cachexia, Emphysema, Pulmonary artery dilatation,...	ORPHA:558
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia	ORPHA:3217
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Adrenal hyperplasia, Pneumonia, Jaundice, Macroorchidism, Failure to thrive	ORPHA:90790
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Weight loss, Lymphadenopathy	ORPHA:2221
Cap Polyposis	Atrophic gastritis, Weight loss	ORPHA:160148
Distal Duplication 5Q	Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Eczema	ORPHA:96097
Cystic Fibrosis	Elevated hepatic transaminase, Recurrent respiratory infections, Sinusitis, Reduced forced expira...	ORPHA:586
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia	OMIM:617093
Stickler Syndrome	Recurrent respiratory infections, Cachexia, Osteoarthritis, Uveitis, Chronic otitis media, Slende...	ORPHA:828
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ...	OMIM:253200
Roifman-Chitayat Syndrome	Arthritis, Pneumonia	OMIM:613328
Perry Syndrome	Central hypoventilation, Weight loss	ORPHA:178509
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Obesity, Hepatosplenomegaly, Cholecystitis, Recurrent otitis media, Cholelithiasis	OMIM:301066
Neuroblastoma, Susceptibility To, 1	Failure to thrive, Abdominal mass, Anemia, Weight loss	OMIM:256700
Central Diabetes Insipidus	Failure to thrive, Weight loss	ORPHA:178029
Isolated Succinate-Coq Reductase Deficiency	Left ventricular hypertrophy, Weight loss	ORPHA:3208
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Annular pancreas, Panc...	OMIM:615710
Fanconi Anemia, Complementation Group Q	Biliary atresia, Bone marrow hypocellularity	OMIM:615272
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Recurrent aspiration pneumonia, Hepatic hemangioma	ORPHA:73230
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Seckel Syndrome	Cachexia	ORPHA:808
Mucolipidosis Type Ii	Respiratory failure requiring assisted ventilation, Recurrent respiratory infections, Splenomegal...	ORPHA:576
Cimdag Syndrome	Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly	OMIM:619273
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Juvenile Dermatomyositis	Myositis, Pericarditis, Skin rash, Pruritus, Dyspnea, Weight loss, Arthritis, Restrictive ventila...	ORPHA:93672
Malignant Atrophic Papulosis	Peritonitis, Weight loss, Respiratory failure, Arteritis, Pleural effusion	ORPHA:679
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Wei...	ORPHA:49041
Degcags Syndrome	Hepatomegaly, Pancytopenia, Chronic lung disease, Small for gestational age, Pneumonia, Congenita...	OMIM:619488
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Weight los...	ORPHA:1018
Acrodermatitis Enteropathica	Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blepharitis	ORPHA:37
Niemann-Pick Disease Type C	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Abnormal lung morpho...	ORPHA:646
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Sinusitis, Pneumonia, Pustule, Respiratory tract infection, Granuloma, In...	ORPHA:68
Huntington Disease	Decreased body mass index, Weight loss	ORPHA:399
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, W...	ORPHA:91500
Mucopolysaccharidosis Type 3	Hepatomegaly, Recurrent sinopulmonary infections, Cardiomegaly, Adenoiditis, Splenomegaly, Respir...	ORPHA:581
Perry Syndrome	Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Respiratory arrest	OMIM:168605
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weight loss, Hy...	ORPHA:747
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Exocrine pancreatic ins...	ORPHA:309031
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia	ORPHA:1969
Gm1 Gangliosidosis Type 1	Aspiration pneumonia, Hepatosplenomegaly	ORPHA:79255
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormality of the skin, Respirator...	ORPHA:95455
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Pancytopenia, Urinary bladder inflammation, Dyspnea, Pn...	ORPHA:99921
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Extrahepatic cholestasis, Lymphadenopathy, Weight loss, Iron defic...	ORPHA:100078
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Pruritus, Myocard...	ORPHA:221
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Abnormality of T cell physiology, Psoriasiform dermatitis, Parathyroid hypopl...	ORPHA:2237
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Pneumothorax, Gastrointestin...	ORPHA:79404
Slc39A8-Cdg	Hypomanganesemia, Abnormal blood zinc concentration	ORPHA:468699
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Pneumonia, Otitis media, Hepatosplenomegaly	ORPHA:309282
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Iron deficiency anemia, Ova...	OMIM:175200
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	High nonceruloplasmin-bound serum copper	ORPHA:457351
Martinez-Frias Syndrome	Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal...	OMIM:601346
Rheumatoid Arthritis	Rheumatoid arthritis, Weight loss	OMIM:180300
Infantile Neuroaxonal Dystrophy	Apneic episodes in infancy, Aspiration pneumonia	ORPHA:35069
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati...	ORPHA:913
Progeroid Short Stature With Pigmented Nevi	Allergic rhinitis, Allergic conjunctivitis, Small for gestational age, Impaired T cell function	OMIM:176690
Neurofibroma	Neoplasm of the trachea, Enlargement of parotid gland, Neoplasia of the pleura, Recurrent otitis ...	ORPHA:252183
Tay-Sachs Disease	Aspiration pneumonia, Hepatosplenomegaly	ORPHA:845
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Asplenia, Pulmonary arterial hypertension, Annular panc...	ORPHA:210122
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Decreased serum zinc	ORPHA:541423
Non-Functioning Paraganglioma	Weight loss	ORPHA:94080
Cornelia De Lange Syndrome 1	Pneumonia, Cryptorchidism, Hypoplastic nipples, Otitis media, Duplication of internal organs, Thr...	OMIM:122470
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop...	OMIM:277900
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Recurrent pneumonia, Pulmonary arterial hypertension	ORPHA:464738
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Goiter	OMIM:188580
Combined Oxidative Phosphorylation Deficiency 25	Failure to thrive, Aspiration pneumonia	OMIM:616430
Lynch Syndrome	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ...	ORPHA:144
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Pulmonary embolism, Leukocytosis, Aspiration pneumonia, Thrombocyt...	ORPHA:94093
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos...	OMIM:607330
Pancreatoblastoma	Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent skin infections, Eczema, Keratitis, Cryptorchidism, Recurrent upper respiratory tract i...	OMIM:308205
Velocardiofacial Syndrome	Hypoparathyroidism, Impaired T cell function, Cryptorchidism, Unilateral primary pulmonary dysgen...	OMIM:192430
Pentalogy Of Cantrell	Absent gallbladder, Pulmonary hypoplasia, Polysplenia	ORPHA:1335
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss, Goiter	OMIM:613239
African Trypanosomiasis	Hepatomegaly, Pericarditis, Keratitis, Myocarditis, Pruritus, Splenomegaly, Jaundice, Hepatosplen...	ORPHA:3385
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Recurrent respiratory infections, Apnea, Supernumerary nipple, Tac...	ORPHA:397715
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ...	ORPHA:440437
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Hepatomegaly, Bilateral trilobed lung, Cardiomegaly, Asplenia, Biliary atre...	OMIM:306955
Goodpasture Syndrome	Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Weigh...	OMIM:233450
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Osteosarcoma	Weight loss	ORPHA:668
Metachromatic Leukodystrophy	Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallbladder	ORPHA:512
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Bohring-Opitz Syndrome	Recurrent respiratory infections, Apnea, Cardiomegaly, Severe failure to thrive, Cholelithiasis, ...	ORPHA:97297
Oromandibular Dystonia	Respiratory distress, Weight loss	ORPHA:93958
Addison Disease	Normocytic anemia, Hypoparathyroidism, Primary testicular failure, Thiamine-responsive megaloblas...	ORPHA:85138
Marshall-Smith Syndrome	Apnea, Bilateral cryptorchidism, Cryptorchidism, Recurrent upper respiratory tract infections, St...	OMIM:602535
Distal Deletion 12Q	Late onset atopic dermatitis, Unilateral cryptorchidism, Failure to thrive in infancy, Pituitary ...	ORPHA:96149
8P23.1 Microdeletion Syndrome	Cryptorchidism, Pulmonary artery stenosis, Obesity, Weight loss	ORPHA:251071
Lissencephaly Due To Lis1 Mutation	Aspiration pneumonia	ORPHA:95232
Congenital Enterocyte Heparan Sulfate Deficiency	Weight loss	ORPHA:103910
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Adrenal hyperplasia, Acne, Pancreatoblastoma, Pituitary corticotropic ...	ORPHA:99889
Fatal Familial Insomnia	Apnea, Weight loss	OMIM:600072
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bilateral cryptorchidism, Recurrent pneumonia, Recurrent aspiration pneumonia	OMIM:300472
Liposarcoma	Weight loss	ORPHA:69078
Pancreatic Agenesis-Holoprosencephaly Syndrome	Hypoxemia, Absent gallbladder, Small for gestational age, Pancreatic aplasia	ORPHA:556955
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Thyroiditis, Neoplasm o...	ORPHA:733
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Failure to thrive, Small for gestational age, Exocrine pancreatic insuffici...	ORPHA:2255
Cerebrotendinous Xanthomatosis	Cholelithiasis, Respiratory insufficiency	OMIM:213700
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, P...	ORPHA:99104
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid...	ORPHA:143
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ...	ORPHA:99103
Acute Adrenal Insufficiency	Normocytic anemia, Failure to thrive, Weight loss, Recurrent acute respiratory tract infection	ORPHA:95409
8P Inverted Duplication/Deletion Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the gallbladder	ORPHA:96092
Adrenocortical Carcinoma	Adrenocorticotropic hormone deficiency, Increased body weight, Lung adenocarcinoma, Weight loss	ORPHA:1501
Hermansky-Pudlak Syndrome	Epistaxis, Dyspnea, Weight loss, Pulmonary fibrosis, Neutropenia	ORPHA:79430
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Paroxysmal Nocturnal Hemoglobinuria	Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood...	ORPHA:447
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Respiratory insufficiency, Anemia, Thrombocytopenia	ORPHA:163979
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Cyst of the ductus choledochus	OMIM:619480
Familial Glucocorticoid Deficiency	Cryptorchidism, Testicular adrenal rest tumor, Weight loss, Leydig cell neoplasia, Failure to thrive	ORPHA:361
Cholera	Tachypnea, Aspiration pneumonia, Hyperventilation	ORPHA:173
Choreoacanthocytosis	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Abno...	ORPHA:2388
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Cryptorchidism, Weight loss, Leukop...	ORPHA:84
Norrie Disease	Cryptorchidism, Failure to thrive, Cachexia	ORPHA:649
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocytoma	ORPHA:276621
Trisomy 8P	Cryptorchidism, Recurrent upper respiratory tract infections, Abnormal lung lobation, Aplasia/Hyp...	ORPHA:264450
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Patent ductus arteriosus, Decreased serum iron	ORPHA:438213
Short Syndrome	Weight loss	ORPHA:3163
Glucose-Galactose Malabsorption	Failure to thrive, Weight loss	ORPHA:35710
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Goiter, Weight loss, Small for gestational age, Thyroid hyperplasia	ORPHA:424
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Cyst of the ductus choledochus, Recurrent upper and lower respiratory tract...	ORPHA:480880
Cystinosis, Nephropathic	Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Weight loss, Exocrine pancreatic insuff...	OMIM:219800
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Coffin-Siris Syndrome	Hepatoblastoma, Cryptorchidism, Recurrent upper respiratory tract infections, Aspiration pneumonia	ORPHA:1465
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration	OMIM:304150
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, Elevated circul...	OMIM:618500
Cat Eye Syndrome	Biliary atresia, Total anomalous pulmonary venous return	OMIM:115470
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Obesity, Otitis media, Failu...	ORPHA:353281
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Emphysema, Abnormality of the pulmonary artery	ORPHA:363618
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Pancreatic hypoplasia, Reduced pancreatic beta cells, Weight loss	ORPHA:99885
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Wiedemann-Rautenstrauch Syndrome	Recurrent respiratory infections, Small for gestational age, Pneumonia, Cryptorchidism, Hypoplasi...	OMIM:264090
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Asthma, Obesity, Aspiration pneumonia, Tra...	ORPHA:444077
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocytoma	ORPHA:29072
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Pituitary null cell adenoma, Elevated circulating growth hormone concen...	ORPHA:652
Cerebrotendinous Xanthomatosis	Cholelithiasis, Abnormal lung morphology, Prolonged neonatal jaundice	ORPHA:909
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Biliary tract abnormality, Gout, Pancreatic hypoplasia, Exocrine p...	OMIM:137920
Familial Gestational Hyperthyroidism	Goiter, Weight loss, Thyroid hyperplasia	ORPHA:99819
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Respiratory insufficiency, Weight loss	OMIM:607459
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia	OMIM:619482
Tetrasomy 9P	Absent gallbladder, Myositis, Pericarditis, Cryptorchidism, Jaundice, Biliary atresia, Arthritis,...	ORPHA:3310
Acute Transverse Myelitis	Decreased circulating copper concentration	ORPHA:139417
Adult-Onset Autosomal Dominant Leukodystrophy	Aspiration pneumonia	ORPHA:99027
Glossopharyngeal Neuralgia	Weight loss	ORPHA:221098
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Respiratory failure requiring assisted ventilation, Decreased resp...	ORPHA:273
Alobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Failu...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Failu...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Failu...	ORPHA:93924
Semilobar Holoprosencephaly	Central apnea, Decreased response to growth hormone stimulation test, Aspiration pneumonia, Failu...	ORPHA:220386
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Obesity, Hydrocele testis, O...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Pneumonia, Cryptorchidism, Asthma, Obesity, Hydrocele testis, O...	ORPHA:353277
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Failure to thrive, Pulmonary artery stenosis, Biliary atresia, Pancreatic hyp...	OMIM:600001
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Nk-Cell Enteropathy	Increased T cell count	ORPHA:263665
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Unilateral lung agenesis, Failure to thrive in infancy, Secretory IgA deficie...	ORPHA:500150
Trisomy 10P	Absent gallbladder, Small for gestational age	ORPHA:171929
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Abscess, Aplasia of the sweat glands, Septic arthritis, Recurrent aspir...	ORPHA:642
Tsh-Secreting Pituitary Adenoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Increased circulatin...	ORPHA:91347
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Pulmonary hypoplasia	OMIM:617925
Zttk Syndrome	Absent gallbladder, Failure to thrive, Unilateral lung agenesis	OMIM:617140
Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism	OMIM:300712
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Acne, Testicular adrenal rest tumor, Weight loss, Hypocapnia, Failure to thrive, Decreased testic...	ORPHA:90794
Thyrotoxic Periodic Paralysis	Respiratory paralysis, Obesity, Weight loss	ORPHA:79102
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Decreased plasma total carnitine, Decreased serum zinc, Abnormal circulating selenium concentration	ORPHA:79408
Hereditary Late-Onset Parkinson Disease	Weight loss	ORPHA:411602
Williams Syndrome	Recurrent respiratory infections, Failure to thrive in infancy, Cardiomegaly, Cryptorchidism, Obe...	ORPHA:904
Pmm2-Cdg	Elevated hepatic transaminase, Respiratory distress, Pericarditis, Elevated circulating growth ho...	ORPHA:79318
Carney-Stratakis Syndrome	Weight loss	ORPHA:97286
Doors Syndrome	Respiratory distress, Thrombocytosis, Adrenal hyperplasia, Aspiration pneumonia	ORPHA:79500
Steinfeld Syndrome	Absent gallbladder	OMIM:184705
Lafora Disease	Hepatic failure, Recurrent aspiration pneumonia	ORPHA:501
Hutchinson-Gilford Progeria Syndrome	Osteoarthritis, Upper airway obstruction, Weight loss, Severe failure to thrive, Pulmonary arteri...	ORPHA:740
Wrinkly Skin Syndrome	High nonceruloplasmin-bound serum copper	ORPHA:2834
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder	ORPHA:3186
Primary Fanconi Renotubular Syndrome	Pulmonary fibrosis, Weight loss	ORPHA:3337
Peters-Plus Syndrome	Cryptorchidism, Biliary tract abnormality, Bilobate gallbladder, Decreased body weight	OMIM:261540
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder	ORPHA:96176
Yunis-Varon Syndrome	Absent nipple, Small for gestational age, Failure to thrive in infancy, Cryptorchidism, Hypoplast...	OMIM:216340

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 Ndfip1

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 Ndfip1.

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

Title	Journal	IMPC Allele	PubMed ID
Identification of Ndfip1 as a novel negative regulator for spatial memory formation associated with increased ubiquitination of Beclin 1 and PTEN.	PloS one (April 2023)	Ndfip1^{tm1c(EUCOMM)Hmgu} Ndfip1^{tm1a(EUCOMM)Hmgu}	PMC10079018

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
Ndfip1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ndfip1^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Ndfip1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	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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