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Gene: Rigi MGI:2442858

Gene Summary

Name:

RNA sensor RIG-I

Synonyms:

6430573D20Rik, RIG-I, Ddx58, DEAD (Asp-Glu-Ala-Asp) box polypeptide 58

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IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal coat/hair pigmentation	Rigi^em1(IMPC)J	HOM	Early adult	7.02×10^-08
abnormal liver morphology	Rigi^em1(IMPC)Mbp	HOM	Early adult	0.00
small liver	Rigi^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal vocalization	Rigi^em1(IMPC)J	HOM	Early adult	5.85×10^-08
impaired glucose tolerance	Rigi^em1(IMPC)Mbp	HOM	Early adult	2.70×10^-06

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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.

X-ray

XRay Images Whole Body Dorso Ventral

70 Images

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X-ray

XRay Images Whole Body Lateral Orientation

34 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Rigi 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 Rigi (1 diseases)
Human diseases predicted to be associated with Rigi (1074 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Singleton-Merten Syndrome 2			OMIM:616298

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

Disease	Matching phenotypes	Source
Griscelli Syndrome, Type 3	Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair	OMIM:609227
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Chronic diarrhea, Fa...	OMIM:615285
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, Chronic diarrhea, T lymphocytopenia, Recurrent pneumonia, Spl...	OMIM:619164
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Bloody diarrhea, Anemia, Leukocytosis	OMIM:619398
RCAD (renal cysts and diabetes)	Abnormality of the liver, Diabetes mellitus	DECIPHER:47
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Chronic diarrhea, Increased proportion of transiti...	OMIM:616005
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normochromic anemia, Splenomegaly, Abnormal mast cell morphology, Normocytic anemia, Acute myeloi...	ORPHA:98849
Immunodeficiency 104	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Failure to thrive secondary to recurrent i...	OMIM:608971
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Crohn's disease, Increased circulating IgE...	OMIM:615767
Ras-Associated Autoimmune Leukoproliferative Disorder	Follicular hyperplasia, Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphoc...	OMIM:614470
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De...	OMIM:617006
Griscelli Syndrome, Type 1	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large...	OMIM:214450
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Chronic diarrhea, Leukocytosis, Decreased circulating IgG level, ...	OMIM:619281
Immunodeficiency 52	Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci...	OMIM:617514
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev...	OMIM:300635
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Refractory anemia with ringed sideroblasts, Thrombo...	OMIM:133180
Mantle Cell Lymphoma	Anorexia, Abnormality of the gastrointestinal tract, Lymphadenopathy, Splenomegaly, Weight loss, ...	ORPHA:52416
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma, Monoclonal immunoglobulin M...	OMIM:153600
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody level, Abnormal natural...	OMIM:613101
Immunodeficiency 70	Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Achalas...	OMIM:618969
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Gastritis, Diarrhea, B lymphocytopenia, Skin rash, Decreased circulating antibo...	OMIM:618108
Immunodeficiency 97 With Autoinflammation	Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Abdominal...	OMIM:619802
Immunodeficiency 105	Decreased circulating total IgM, Impaired lymphocyte transformation with phytohemagglutinin, Panc...	OMIM:619924
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni...	OMIM:618394
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Immunodeficiency 19	Recurrent otitis media, Abnormal B cell morphology, Abnormal natural killer cell morphology, Chro...	OMIM:615617
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Monocytosis, Lymphoma, Eczematoid dermatitis, Bone marrow hypocellularity...	OMIM:616871
Immunodeficiency 37	Decreased circulating antibody level, Decreased proportion of central memory CD4-positive, alpha-...	OMIM:616098
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Weight loss, Chronic myelogenous leukemia, Thrombocytosis, ...	ORPHA:71493
Tietz Syndrome	White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o...	ORPHA:42665
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair	ORPHA:1410
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec...	OMIM:619824
Immunodeficiency 24	Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti...	OMIM:615897
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly, Myelodysplasia	OMIM:162830
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Chronic diarrhea, Skin rash, Recurrent bacterial skin infections, Chronic oral can...	ORPHA:911
Primary Myelofibrosis	Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Cach...	ORPHA:824
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Griscelli Syndrome Type 3	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism	ORPHA:79478
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism	OMIM:183350
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Severe Combined Immunodeficiency, X-Linked	Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini...	OMIM:300400
Autoinflammation With Infantile Enterocolitis	Anemia, Episodic vomiting, Pancytopenia, Skin rash, Feeding difficulties in infancy, Failure to t...	OMIM:616050
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology	OMIM:616911
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Sterile abscess, Pancytopenia, Arthritis, Sterile arthritis, Cystic acne, Hepatosplenomegaly, Acn...	OMIM:604416
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent otitis media, Diarrhea, B lymphocytopenia, Increased circulating IgE level, Lack of T c...	ORPHA:277
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic diarrhea, Chronic neutropenia, Decreased specific antibody response to vaccination, Recur...	OMIM:614700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hodgkin lymphoma, Splenomegaly, Reduced natural killer cell count, Neutropenia, T-cell lymphoma, ...	ORPHA:158057
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi...	OMIM:269840
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Decreased circulating total IgM, Chronic diarrhea, Increased circulating IgE level, At...	OMIM:617638
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Refra...	ORPHA:75564
Sweet Syndrome	Acne, Anemia, Acute myeloid leukemia, Panniculitis, Chronic lymphatic leukemia, Sterile abscess, ...	ORPHA:3243
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha...	OMIM:300853
Aggressive Systemic Mastocytosis	Decreased liver function, Gastrointestinal hemorrhage, Ascites, Abnormal mast cell morphology, Ne...	ORPHA:98850
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m...	OMIM:202700
Immunodeficiency 27A	Anorexia, Anemia, Lymphadenopathy, Increased circulating IgG level, Diarrhea, Salmonella osteomye...	OMIM:209950
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Myelodysplasia...	ORPHA:231401
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation	OMIM:131440
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat...	ORPHA:2585
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Ileal ulcer, Skin rash, Thrombocytopenia, Anterior uveitis, Lymphopenia, Hemolytic anemia, Colitis	OMIM:616744
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Poor appetite, Thromb...	ORPHA:521
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Hypereosinophilia, Histiocytosis, Leukemia	ORPHA:157991
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm...	ORPHA:100024
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Immunodeficiency 21	Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Oste...	OMIM:614172
Immunodeficiency 84	B lymphocytopenia, B-cell lymphoma, Splenomegaly, Perianal abscess	OMIM:619437
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Chronic otitis media, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, M...	ORPHA:3226
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Recurrent otitis media, Absent peripheral lymph nodes in presence of infection, Abnormal immunogl...	ORPHA:98813
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity, Multiple lineage myelodysplasi...	ORPHA:98827
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly	OMIM:606445
Fanconi Anemia, Complementation Group G	Anemia, Leukemia, Thrombocytopenia, Myelodysplasia, Neutropenia	OMIM:614082
Wiskott-Aldrich Syndrome	Chronic otitis media, Hematemesis, Chronic diarrhea, Abnormal platelet function, Sinusitis, Abnor...	ORPHA:906
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Diarrhea, B lympho...	OMIM:601457
Immunodeficiency 18	Defective T cell proliferation, Decreased circulating total IgM, Recurrent otitis media, Decrease...	OMIM:615615
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci...	ORPHA:436159
Caspase 8 Deficiency	Lymphadenopathy, Chronic diarrhea, Complete or near-complete absence of specific antibody respons...	OMIM:607271
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Anal fissure, Crohn's disease, Acute pa...	OMIM:618935
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, Pneumonia, Atopic dermatitis, T lymphocytop...	OMIM:618806
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma, Splenomegaly, ...	ORPHA:66661
Leukemia, Chronic Myeloid	Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia	OMIM:608232
Reticular Dysgenesis	Chronic otitis media, Anemia, Diarrhea, Skin rash, Decreased circulating antibody level, Failure ...	ORPHA:33355
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Lymphoproliferat...	ORPHA:90033
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Diarrhea, Skin rash, Leukocytosis, Failure to thrive, Hep...	OMIM:618963
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Hepatomegaly, Lymphadenopathy, Lymphoma, Splenomegaly, Weight loss, Breast carcinoma, B...	ORPHA:86893
Mismatch Repair Cancer Syndrome 2	T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme	OMIM:619096
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina...	OMIM:618534
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell...	OMIM:312863
Immunodeficiency, Common Variable, 1	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched mem...	OMIM:607594
Dyskeratosis Congenita, Autosomal Recessive 5	Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia, Esophageal stenosi...	OMIM:615190
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Abnormal T cell count, Abnormal B cell count	OMIM:613495
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Villous atrophy, Decreased circulating IgE, Tube feeding, Chroni...	OMIM:619510
Immunodeficiency 15A	Recurrent otitis media, Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candi...	OMIM:618204
Immunodeficiency 40	Intermittent diarrhea, Chronic oral candidiasis, Hepatomegaly, Macrovesicular hepatic steatosis, ...	OMIM:616433
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, Anal atresia, Failure to thrive, Bone marrow hypocellularity, T-cell acut...	OMIM:605724
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Impaired lymphocyte transformation with phytohemagglutinin, Intestinal ma...	OMIM:243150
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Splenomegaly, Lymphopenia, ...	ORPHA:444463
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Diarrhea, ...	ORPHA:486
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Increased circulating antibody lev...	ORPHA:169154
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia	OMIM:233650
Immunodeficiency 115 With Autoinflammation	Intermittent diarrhea, Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody ...	OMIM:620632
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma	OMIM:247640
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Pancytopenia, Verrucae, Myelodysplasia, Decreased CD4:CD8 ratio, Leukemia	OMIM:614038
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9	Leukopenia, Leukemia	OMIM:620400
Activated Pi3K-Delta Syndrome	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, ...	ORPHA:397596
Li-Fraumeni Syndrome	Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp...	ORPHA:524
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Iron deficiency anemia, Thrombocytosis, Anoperineal fistula, Lymphocytosis, Abd...	OMIM:301074
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis	OMIM:246470
Acute Myelomonocytic Leukemia	Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia	ORPHA:517
Bare Lymphocyte Syndrome, Type Ii	Villous atrophy, Cholangitis, Panhypogammaglobulinemia, Colitis, Chronic mucocutaneous candidiasi...	OMIM:209920
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:606952
Simple Cryoglobulinemia	Monoclonal elevation of IgG, Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tra...	ORPHA:91139
Immunodeficiency 50	Eczematoid dermatitis, Decreased circulating antibody level, Neutropenia, Lymphopenia	OMIM:300988
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Immunodeficiency, Common Variable, 2	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Partial absence of specific antibody respo...	OMIM:240500
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ...	OMIM:616452
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Periodontitis, Abdominal pain, Lymphope...	ORPHA:2686
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Aplastic anemia, Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Leukemia, Myeloid leukemia	OMIM:614743
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Waardenburg Syndrome, Type 2F	Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri...	OMIM:619947
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity, Pyoderma, Aplasia of the thymus, Chronic diarrhea, T lymphocyto...	OMIM:242700
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, B lymphocytopenia, Decreased circulating IgG level, Abnormally l...	OMIM:618987
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Hematochezia, Colitis	OMIM:613148
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,...	OMIM:620282
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Failure to thrive, Bone marrow hypocellularity, Thrombocytopenia,...	OMIM:619151
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Coloni...	OMIM:618999
Trimethylaminuria	Recurrent pneumonia, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Alpha-Heavy Chain Disease	Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Abdominal pain, Lymphoma, Ascites, S...	ORPHA:100025
Immunodeficiency 103, Susceptibility To Fungal Infections	Chronic oral candidiasis, Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportio...	OMIM:212050
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Splenomegaly, Weight loss, Feeding difficulties, Nausea and vomiting	ORPHA:79238
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased proportion of class-switched memory B cells, Interstitial pneumonitis, Enterocolitis, D...	OMIM:614878
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent otitis media, Partial absence of specific antibody response to Haemophilus influenzae t...	OMIM:618986
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Neoplasm of the tongue, Neoplasm of the skin...	ORPHA:3261
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Recurrent otitis media, Lymphadenopathy, I...	OMIM:619220
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha...	ORPHA:170
Acute Monoblastic/Monocytic Leukemia	Anorexia, Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis...	ORPHA:514
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Myelody...	ORPHA:846
Proteasome-Associated Autoinflammatory Syndrome 5	Failure to thrive in infancy, Skin rash, Hepatomegaly, Splenomegaly	OMIM:619175
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Increased cir...	OMIM:618495
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis, Arthritis	ORPHA:139436
Immunodeficiency, Common Variable, 13	B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia	OMIM:616873
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Aplastic anemia, Cirrhosis, Anemia, Mediastinal lymphadenopathy, Gastroesophageal reflux, Pancyto...	OMIM:614742
Pseudomyxoma Peritonei	Intestinal obstruction, Lymphadenopathy, Abnormal peritoneum morphology, Abdominal pain, Ascites,...	ORPHA:26790
Desmoplastic Small Round Cell Tumor	Neoplasm of the central nervous system, Abdominal distention, Neoplasm of the pancreas, Ovarian n...	ORPHA:83469
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Fu...	OMIM:308240
Myeloproliferative Disease, Autosomal Recessive	Myeloproliferative disorder	OMIM:254700
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Immunodeficiency 75 With Lymphoproliferation	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphoma, Hepatosplenomeg...	OMIM:619126
Combined Immunodeficiency Due To Dock8 Deficiency	Chronic otitis media, Squamous cell carcinoma of the vulva, Squamous cell carcinoma, B lymphocyto...	ORPHA:217390
Hidrotic Ectodermal Dysplasia	Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype...	ORPHA:189
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Intestinal obstruction, Recurrent otitis media, Impaired lymphocyte transformation with phytohema...	OMIM:600802
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula...	OMIM:617241
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Lymphadenopathy, Recurrent aphthous stomatitis, Diarrhea, B lymphocytop...	OMIM:150550
Reticular Dysgenesis	Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu...	OMIM:267500
Hepatic Adenomas, Familial	Hepatocellular adenoma, Maturity-onset diabetes of the young	OMIM:142330
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	White forelock, Macular hyperpigmented dermopathy	ORPHA:2779
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Decreased proportion of class-switched memory B cells, Chronic decreased ...	OMIM:613493
Leishmaniasis	Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Pancytopen...	ORPHA:507
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope...	ORPHA:169079
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Immunodeficiency 13	Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positiv...	OMIM:615518
Thymoma	Aplastic anemia, Neoplasm of the thyroid gland, Prostate neoplasm, Myositis, Decreased circulatin...	ORPHA:99867
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia	OMIM:610738
Albinism, Oculocutaneous, Type Iv	Albinism, Blue irides, Hypopigmentation of hair	OMIM:606574
Li-Fraumeni Syndrome	Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma...	OMIM:151623
Immunodeficiency 17	Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Decreased proporti...	OMIM:615607
Pfapa Syndrome	Hepatomegaly, Lymphadenopathy, Arthritis, Abdominal pain, Splenomegaly, Weight loss, Malabsorptio...	ORPHA:42642
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Thrombocytosis, Myelody...	ORPHA:3318
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent otitis media, Lymphadenopathy, Increased circulating IgG level, Herpes simplex encephal...	OMIM:618982
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Pancolitis, B lymphocytopenia, Bone marrow hypocellularity, Inflammation of the lar...	OMIM:620133
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Cachexia, Abnormal intestine morphology, Splenomegaly, Psoriasiform dermatitis, Dependency on int...	ORPHA:37042
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Crohn's disease, Skin rash, T lymphocytopenia, Splenomegaly, Bowel irritability, ...	OMIM:619381
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Diarrhea, Crohn's disease, Arthritis,...	OMIM:616100
Eosinophilic Gastroenteritis	Steatorrhea, Protein-losing enteropathy, Anemia, Abnormality of the gastrointestinal tract, Diarr...	ORPHA:2070
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Absent isohemagglutinin level, Diarrhea, Fail...	OMIM:613501
Hereditary Spherocytosis	Abdominal distention, Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crise...	ORPHA:822
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia, Myelodysplasia	OMIM:252270
Immunodeficiency 102	Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ...	OMIM:301082
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Anemia of inadequate...	ORPHA:231222
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Lymphade...	ORPHA:540
Fanconi Anemia, Complementation Group T	Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:616435
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis...	OMIM:619375
Wolman Disease	Abdominal distention, Steatorrhea, Hepatomegaly, Anemia, Cachexia, Bone-marrow foam cells, Esopha...	ORPHA:75233
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Crohn's disease,...	OMIM:266600
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Intestinal obstruction, Liver abscess, Anemia, Acute colitis, Abdominal pain, Diarr...	ORPHA:67
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Abnormal circulating IgG level, Sinusitis, Failure to thrive...	OMIM:226990
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Anemia, Hemophagocytosis, Lymphadenopathy, Hepatomegaly, Skin rash, Thrombocytopenia, S...	OMIM:603552
Diffuse Cutaneous Mastocytosis	Malnutrition, Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Lymphocytosis, Abdomina...	ORPHA:79456
Ficolin 3 Deficiency	Verrucae, Necrotizing enterocolitis	OMIM:613860
Pyoderma Gangrenosum	Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i...	ORPHA:48104
Esophagitis, Eosinophilic, 2	Esophagitis, Vomiting, Failure to thrive, Dysphagia, Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Esophagitis, Vomiting, Failure to thrive, Dysphagia, Eosinophilia	OMIM:610247
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Chronic oral candidiasis, Acute otitis media, Decreased circulating total IgM, Impaired lymphocyt...	ORPHA:35078
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia	OMIM:608898
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn...	OMIM:247800
Inflammatory Bowel Disease 29	Crohn's disease, Ulcerative colitis	OMIM:618077
Immunodeficiency 25	Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o...	OMIM:610163
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:613265
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of CD3-positive T cells, Skin rash, Recurrent bacterial skin infections, Lym...	ORPHA:276
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
N Syndrome	Leukemia, Neoplasm	OMIM:310465
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Ga...	ORPHA:2198
Immunodeficiency 68	Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Septic a...	OMIM:612260
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr...	OMIM:615559
Chilblain Lupus	Increased circulating antibody level, Malar rash, Skin rash, Discoid lupus rash, Inflammatory abn...	ORPHA:90280
Osteopetrosis, Autosomal Recessive 2	Chronic rhinitis due to narrow nasal airway, Anemia, Pancytopenia, Thrombocytopenia, Hepatospleno...	OMIM:259710
Ataxia-Pancytopenia Syndrome	Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro...	OMIM:159550
Classic Hodgkin Lymphoma	Anorexia, Hepatomegaly, Lymphadenopathy, Skin rash, Lymphoma, Bone marrow hypocellularity, Poor a...	ORPHA:391
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Abnormal lymph node morphology, Diarrhea, Abdominal pain, Abnormality of t...	ORPHA:54251
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased specific anti-polysaccharide ant...	OMIM:606367
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Incr...	OMIM:602450
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Lymphoma, Increased ci...	ORPHA:37748
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Decreased circulating ant...	OMIM:619846
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sclerosing cholangitis, Panhypogammaglobulinemia, Skin rash, T lymphocytopenia, Sinusitis, Neutro...	ORPHA:572
Immunodeficiency 7	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Lymp...	OMIM:615387
Burkitt Lymphoma	Neoplasm of the oral cavity, Intestinal obstruction, Gastrointestinal hemorrhage, Abnormal lymph ...	ORPHA:543
Immunodeficiency 16	Coombs-positive hemolytic anemia, Kaposi's sarcoma, Splenomegaly, Pancytopenia	OMIM:615593
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem...	OMIM:601859
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Anemia, Increased mean corpuscular volume, Ascites, Sideroblastic anemi...	OMIM:617021
Wolman Disease	Abdominal distention, Hepatomegaly, Vomiting, Failure to thrive, Acute hepatic failure, Splenomegaly	OMIM:620151
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Abdominal pain, Splenomegaly, Recurrent pancreatitis	OMIM:118830
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Skin rash, Bloody diarrhea, Failu...	OMIM:617718
Lymphoproliferative Syndrome 2	Aplastic anemia, EBV encephalitis, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia,...	OMIM:615122
Ermine Phenotype	White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig...	OMIM:227010
Pgm3-Cdg	Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce...	ORPHA:443811
Cutaneous Neuroendocrine Carcinoma	Basal cell carcinoma, Merkel cell skin cancer, Squamous cell carcinoma of the skin, Chronic nonin...	ORPHA:79140
Immunodeficiency 92	Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ...	OMIM:619652
Shigellosis	Cholestasis, Paralytic ileus, Anorexia, Myocarditis, Abdominal pain, Splenic abscess, Nausea, Abd...	ORPHA:810
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Defective T cell proliferation, Anoperineal fistula, Increased circulating IgG ...	OMIM:618213
Indolent Systemic Mastocytosis	Hepatomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Skin rash, Mastocytosis,...	ORPHA:98848
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Congenital Bile Acid Synthesis Defect Type 2	Steatorrhea, Jaundice, Giant cell hepatitis, Hepatomegaly, Cholestasis, Failure to thrive, Prolon...	ORPHA:79303
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Splenomegaly, Increased circulating IgG level, Nephritis, Autoimmune...	OMIM:603909
Felty Syndrome	Chronic otitis media, Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Abnormal lymphocyte morph...	ORPHA:47612
Follicular Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Lymphoma, Splenomeg...	ORPHA:545
Griscelli Syndrome, Type 2	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:607624
Refractory Celiac Disease	Normocytic anemia, Protein-losing enteropathy, Iron deficiency anemia, Macrocytic anemia, Jejunit...	ORPHA:398063
Pulmonary Blastoma	Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss	ORPHA:64741
Neurofibromatosis Type 1	Rhabdomyosarcoma, Multiple lipomas, Spinal neurofibroma, Neoplasm of the gastrointestinal tract, ...	ORPHA:636
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Recurrent aphthous stomatitis, Abdominal pain, Skin rash, Arthritis, Leukocytosi...	OMIM:611762
Inflammatory Bowel Disease 25, Autosomal Recessive	Perianal abscess, Rectovaginal fistula, Pancolitis, Folliculitis, Enterocolitis, Enterocutaneous ...	OMIM:612567
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Obesity, Colitis	ORPHA:88643
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,...	OMIM:147630
Ataxia-Telangiectasia	Chronic diarrhea, Bronchiectasis, Hypoplasia of the thymus, Lymphoma, T lymphocytopenia, Sinusiti...	OMIM:208900
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Diarrhea, Decreased mean corpuscular hemoglob...	ORPHA:231226
Majeed Syndrome	Hepatomegaly, Hypochromic microcytic anemia, Acne, Cachexia, Leukocytosis, Synovitis, Failure to ...	ORPHA:77297
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Elevated fecal sodium, Secretory diarrhea, Inflammation of the large intestine	OMIM:616868
Primary Erythromelalgia	Leukemia	ORPHA:90026
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Decreased circulating total IgM, Abnormal natural kill...	ORPHA:331206
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Pancytopenia, Chronic diarr...	OMIM:619858
Isolated Agammaglobulinemia	Pneumonia, Anemia, Inflammatory abnormality of the eye, Diarrhea, Abnormality of the tonsils, Abn...	ORPHA:229717
Rhabdoid Tumor	Neoplasm of the central nervous system, Renal neoplasm, Anemia, Lymphadenopathy, Abdominal pain, ...	ORPHA:69077
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Chronic Beryllium Disease	Abnormal proportion of CD4-positive T cells, Lymphocytic interstitial pneumonia, Mediastinal lymp...	ORPHA:133
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, Hemo...	OMIM:301078
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Waardenburg Syndrome, Type 2A	Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo...	OMIM:193510
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hepatomegaly, Diarrhea, ...	ORPHA:231214
X-Linked Agammaglobulinemia	Chronic otitis media, Chronic diarrhea, Skin rash, Glossoptosis, Sinusitis, Neoplasm, Recurrent c...	ORPHA:47
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Vomiting, Failure to thrive, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Anorexia, Chronic oral candidiasis, Failure to thrive secondary to recurrent infections, Increase...	ORPHA:169160
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Abdominal pain, Splenomegaly, Microcytic an...	OMIM:618852
5-Oxoprolinase Deficiency	Diarrhea, Abdominal pain, Enterocolitis, Vomiting	OMIM:260005
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Nut Midline Carcinoma	Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom...	ORPHA:443167
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto...	ORPHA:86839
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia, Cleft palate, Feeding difficulties, Weight loss, Microglossia, Nasogastric ...	ORPHA:141152
Autoimmune Hepatitis	Cirrhosis, Jaundice, Gastrointestinal hemorrhage, Increased circulating antibody level, Sclerosin...	ORPHA:2137
Classic Mycosis Fungoides	Hepatomegaly, Lymphadenopathy, Neoplasm of the skin, Abnormal lymphocyte morphology, Skin rash, L...	ORPHA:2584
Glioma Susceptibility 3	Acute myeloid leukemia, Medulloblastoma, Astrocytoma, B Acute Lymphoblastic Leukemia, Glioblastom...	OMIM:613029
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Gastroesophageal reflux, B-cell lymphoma, Increased circulating IgE level, Atopic dermatitis, Gas...	OMIM:620532
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Chronic diarrhea, Abdominal pain, Cholestasis, Leukocytosi...	OMIM:615895
Laryngeal Neuroendocrine Tumor	Anorexia, Oral-pharyngeal dysphagia, Neoplasm of the larynx, Chronic noninfectious lymphadenopath...	ORPHA:100083
Polycythemia Vera	Acute leukemia, Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Leukocytosis, Portal h...	ORPHA:729
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Anemia, Hepatomegaly, Abnormal natural killer cell count, Pancytopenia, Panhypogammaglo...	ORPHA:79124
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Eczematoid dermatit...	OMIM:614493
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Diarrhea, B lymphocytopenia, Hypoplas...	OMIM:619313
Sepsis In Premature Infants	Decreased liver function, Abdominal distention, Jaundice, Anemia, Hepatomegaly, Diarrhea, Functio...	ORPHA:90051
Galactosemia Iii	Jaundice, Hepatomegaly, Vomiting, Failure to thrive, Splenomegaly	OMIM:230350
Autoinflammatory Disease, Systemic, With Vasculitis	Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Jaundice, Abdominal pain, Atopic...	OMIM:620376
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Decreased circulating IgG level, Cleft palate, Leukopenia, Splenomegaly, Recurrent ...	OMIM:620210
Idiopathic Achalasia	Gastroesophageal reflux, Recurrent aspiration pneumonia, Dysphagia, Weight loss, Malnutrition	ORPHA:930
Wiskott-Aldrich Syndrome	Hematemesis, Impaired lymphocyte transformation with phytohemagglutinin, Chronic diarrhea, Recurr...	OMIM:301000
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Abdominal pain, Splenic infarction, Persistence of...	ORPHA:251380
Immunodeficiency 58	Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic diarrhea, Dec...	OMIM:618131
Hypotrichosis 8	Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye...	OMIM:278150
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Immunodeficiency, Common Variable, 7	Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Chronic diarrhea, ...	OMIM:614699
Immunodeficiency 62	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:618459
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Hepatosplenomegaly, Hemophagocytosis, Weight loss	ORPHA:86884
Eosinophilic Fasciitis	Myositis, Abnormal eosinophil morphology, Arthritis, Weight loss, Eosinophilia, Fasciitis	ORPHA:3165
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Abnormal int...	OMIM:619079
Specific Granule Deficiency 1	Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre...	OMIM:245480
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Skin rash, Re...	OMIM:619374
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:619165
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch...	OMIM:308230
Shwachman-Diamond Syndrome	Aplastic anemia, Steatorrhea, Macrocytic anemia, Skin rash, Chronic neutropenia, Sinusitis, Bone ...	ORPHA:811
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Diarrhea, Neoplasm of the skin, Neoplasm by anatomical...	ORPHA:33276
Ménétrier Disease	Anorexia, Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, St...	ORPHA:2494
Budd-Chiari Syndrome	Intestinal obstruction, Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Gastroint...	ORPHA:131
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Increased circulating h...	OMIM:263300
Mismatch Repair Cancer Syndrome 1	Basal cell carcinoma, T-cell lymphoma, Rhabdomyosarcoma, Pleomorphic xanthoastrocytoma, Ependymom...	OMIM:276300
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Decreased specific anti-polysaccharide antibody level, Pancytopenia, Chr...	OMIM:614576
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Jaundice, Cholestasis, Failure to thrive, Splenomegaly, Malabsorption, Neoplasm	ORPHA:172
Bloom Syndrome	Cheilitis, Neoplasm of the skin, Skin rash, Malignant genitourinary tract tumor, Neoplasm, Acute ...	ORPHA:125
Inflammatory Bowel Disease 11	Diarrhea, Abdominal pain, Inflammation of the large intestine, Hematochezia, Weight loss	OMIM:191390
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Chronic diarrhea, Splenomegaly, Dysphagia, Cholangitis, Abdominal pain, Failure ...	ORPHA:3260
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Anemia, Arthritis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Poor ...	ORPHA:324964
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Diarrhea, B lymphocytopenia, Erythroderma, Hypoplasia of t...	OMIM:603554
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Hepatomegaly, Anemia, Pancreatitis, Abdominal pain, Failure to thrive, Thrombocytopenia...	ORPHA:79312
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Complete or near-complete absence of specific antibody response to...	OMIM:613496
Albinism, Oculocutaneous, Type Ii	Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles...	OMIM:203200
Secondary Short Bowel Syndrome	Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Cholestasis, Small intestinal...	ORPHA:95427
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Iga Pemphigus	Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Pustule, ...	ORPHA:555905
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir...	ORPHA:895
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Failure to thrive, Biliary tract ...	ORPHA:79301
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Diarrhea, T lymphocytopenia, Sinusitis, Failure to thrive, Increased circulating IgM level, Bronc...	OMIM:242860
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Steatorrhea, Jaundice, Hepatomegaly, Skin rash, Anemia of inadequate production, Failure to thriv...	OMIM:612714
Trichohepatoenteric Syndrome 2	Cirrhosis, Hepatomegaly, Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic he...	OMIM:614602
Epidermodysplasia Verruciformis, Susceptibility To, 5	Verrucae, Squamous cell carcinoma of the skin, Lymphopenia, T lymphocytopenia	OMIM:618309
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Diabetes mellitus	OMIM:271500
Cronkhite-Canada Syndrome	Anorexia, Hepatomegaly, Intestinal polyposis, Anemia, Stomach cancer, Diarrhea, Cachexia, Abdomin...	ORPHA:2930
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the...	OMIM:611926
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Glossitis, Megaloblastic anemia, Abnormal h...	ORPHA:35858
Familial Pancreatic Carcinoma	Anorexia, Intermittent diarrhea, Jaundice, Pancreatic adenocarcinoma, Lymphadenopathy, Intestinal...	ORPHA:1333
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Feeding difficulties	OMIM:615085
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Chronic diarrhea, Thyroiditis, Abnormal lymphocyte morphol...	ORPHA:39041
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Meningioma, Leukemia	OMIM:602501
Waldenström Macroglobulinemia	Anorexia, Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Diarrhea...	ORPHA:33226
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Recurrent otitis media, Diarrhea, B lymphocytopenia, Decreased circul...	OMIM:612692
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis, Lymphoma, Malabsorption	ORPHA:99812
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Feeding difficulties, Hemolytic anemia	OMIM:615010
Oculocutaneous Albinism Type 3	Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit...	ORPHA:79433
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abdominal pain, Skin rash, Arthritis, Leukocy...	ORPHA:829
Immunodeficiency 42	Chronic oral candidiasis, Hepatomegaly, Recurrent aphthous stomatitis, Hypoplasia of the thymus, ...	OMIM:616622
Congenital Syphilis	Myocarditis, Anemia, Lymphadenopathy, Pancreatitis, Diarrhea, High palate, Synovitis, Prolonged n...	ORPHA:499009
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Intractable diarrhea, Gastritis, Panhypogammaglobulinemia, Villous atrop...	ORPHA:84064
Oculocerebral Syndrome With Hypopigmentation	Hypopigmentation of the skin, Silver-gray hair	OMIM:257800
Thrombocythemia 1	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:187950
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Agammaglobulinemia, Decreased circulating antibody level, Abnormal B cell morphology, Recurrent o...	OMIM:616910
Hirschsprung Disease, Susceptibility To, 1	Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente...	OMIM:142623
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Chronic diarrhea, Megaloblastic anemia, Increased circulating IgE level, Atopic der...	OMIM:620603
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Failure to thrive, Splenomegaly, Recurrent pancreatitis, Colitis	OMIM:615947
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Leukocytosis, Ascites, Hepatos...	OMIM:259720
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Lymphadenopathy, Lymphocytosis, Thyroiditis, Skin rash, Interstitial pneumonitis, Pu...	ORPHA:139402
Visceral Myopathy 2	Intestinal obstruction, Rectal prolapse, Gastroparesis, Gastroesophageal reflux, Intestinal pseud...	OMIM:619350
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Myelodysplasia	ORPHA:721
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly, Feeding difficulties	OMIM:611721
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Abnormal stomach morphology, Testicular seminoma	ORPHA:281090
Sandhoff Disease	Failure to thrive, Hepatomegaly, Splenomegaly	ORPHA:796
Woolly Hair Nevus	Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat...	ORPHA:79414
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Generalized hyperpigmentation, Hypopigmentation of hair	ORPHA:1355
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Chronic diarrhea, Skin rash, Sinusitis, Splenomegaly, Lymphopenia, Aplasia of the thymus, Decreas...	OMIM:102700
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Arteritis,...	ORPHA:70475
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Crohn's di...	OMIM:619705
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Barth Syndrome	Abnormality of neutrophils	ORPHA:111
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Diarrhea, B lymphocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific antibody response to polysaccharide vaccine, Decreased specific anti-polysacch...	ORPHA:70593
Elejalde Neuroectodermal Melanolysosomal Syndrome	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos...	OMIM:256710
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Agammaglobulinemia, X-Linked	Decreased circulating IgE, Chronic diarrhea, T lymphocytopenia, Recurrent sinusitis, Lymph node h...	OMIM:300755
Coproporphyria, Hereditary	Jaundice, Hepatomegaly, Diarrhea, Abdominal pain, Vomiting, Constipation, Increased fecal copropo...	OMIM:121300
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Reduced natural killer cell count...	OMIM:609981
Immunodeficiency 31C	Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transfor...	OMIM:614162
Tyrosinemia Type 1	Hepatocellular carcinoma, Acute hepatic failure, Splenomegaly, Hepatomegaly	ORPHA:882
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Decreased circulating total IgM, Recurrent otitis media, Abnormal na...	OMIM:620430
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Chronic oral candidiasis, Lymphadenopathy, Diarrhea, Thyroiditis, Decreased...	ORPHA:83471
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma, Anorexia, Weight loss, Abnormal peritoneum morphology	ORPHA:2023
Piebald Trait-Neurologic Defects Syndrome	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela...	ORPHA:2885
Sézary Syndrome	Hepatomegaly, Lymphadenopathy, Abnormal immunoglobulin level, Neoplasm of the skin, Abnormal lymp...	ORPHA:3162
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Wilson Disease	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Acute hepatitis, Arthritis, Increased body weight, Hep...	ORPHA:905
Nasu-Hakola Disease	Acute leukemia, Functional abnormality of the gastrointestinal tract	ORPHA:2770
Transcobalamin Deficiency	Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop...	ORPHA:859
Intestinal Dysmotility Syndrome	Abdominal distention, Projectile vomiting, Diarrhea, High palate, Decreased intestinal transit ti...	OMIM:620045
Turcot Syndrome With Polyposis	Intestinal polyposis, Cerebellar medulloblastoma, Pituitary adenoma, Hematochezia, Desmoid tumors...	ORPHA:99818
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Rectal prolapse, Pancreatitis, Acute colitis, Abdominal pain, Diarrhea, Intestinal perforation, B...	ORPHA:90038
Aicardi-Goutières Syndrome	Panniculitis, Chronic lymphatic leukemia, Myositis, Arthritis, Neonatal alloimmune thrombocytopen...	ORPHA:51
Nk-Cell Enteropathy	Duodenal ulcer, Gastroesophageal reflux, Diarrhea, Abdominal pain, Increased T cell count, Consti...	ORPHA:263665
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the tongue, Skin ...	ORPHA:100026
Epidermolysis Bullosa Acquisita	Abdominal pain, Inflammation of the large intestine	ORPHA:46487
Shwachman-Diamond Syndrome 1	Steatorrhea, Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobi...	OMIM:260400
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n...	OMIM:607676
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:2786
Zygomycosis	Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu...	ORPHA:73263
Aids Wasting Syndrome	Anorexia, Cachexia, Malabsorption, Weight loss, Malnutrition	ORPHA:90081
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Impaired glucose tolerance, Diabetes mellitus, Glucose intolerance, Hepa...	OMIM:606069
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Increased circulating IgE level, Leukocytosis, Atopic ...	ORPHA:2902
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Decreased circulating antibody level, Leukocytosis	OMIM:618042
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Panniculitis, Myosit...	OMIM:617591
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Blepharitis, Thrombocytopenia,...	ORPHA:158029
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Immunodeficiency 10	Autoimmune hemolytic anemia, Increased circulating IgG3 level, Hepatomegaly, Recurrent otitis med...	OMIM:612783
Igg4-Related Aortitis	Intestinal obstruction, Increased circulating antibody level, Abdominal pain, Increased circulati...	ORPHA:449400
Caroli Disease	Cholestasis, Ascites, Biliary cirrhosis, Splenomegaly, Anorexia, Jaundice, Intrahepatic cholestas...	ORPHA:53035
Linear Iga Dermatosis	Bladder neoplasm, Renal neoplasm, Inflammation of the large intestine	ORPHA:46488
Porphyria Due To Ala Dehydratase Deficiency	Abdominal distention, Episodic vomiting, Diarrhea, Abdominal pain, Myeloproliferative disorder, A...	ORPHA:100924
Yemenite Deaf-Blind Hypopigmentation Syndrome	Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock	OMIM:601706
Cholesteryl Ester Storage Disease	Steatorrhea, Leukopenia, Splenomegaly, Acute hepatic failure, Hepatic steatosis, Increased hepati...	OMIM:278000
Tumor Predisposition Syndrome 2	Ductal carcinoma in situ, Acute myeloid leukemia, Uveal melanoma, Juvenile type ovarian granulosa...	OMIM:619975
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Hepatomegaly, Anemia of inadequate production, Persistence of hemoglo...	OMIM:613673
Acute Promyelocytic Leukemia	Anorexia, Anemia, Lymphadenopathy, Pancytopenia, Stomatitis, Abdominal pain, Leukocytosis, Leukop...	ORPHA:520
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, High palate, Ascites, Failure to thrive, Splenomegaly, Card...	OMIM:269920
Common Variable Immunodeficiency	Chronic otitis media, Pneumonia, Lymphadenopathy, Decreased circulating antibody level, Lymphoma,...	ORPHA:1572
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abdominal distention, Cirrhosis, Abnormality of the gastrointestinal tract, Anemia, Macrovesicula...	ORPHA:298
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Abdominal distention, Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Constipation, Slen...	OMIM:613662
Babesiosis	Anorexia, Jaundice, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomegaly, Nausea and vomiting...	ORPHA:108
Albinism, Oculocutaneous, Type Vi	Generalized hypopigmentation, Fair hair	OMIM:113750
Portal Hypertension, Noncirrhotic, 1	Esophageal varix, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Hirschsprung Disease	Neoplasm of the thyroid gland, Intestinal obstruction, Aganglionic megacolon, Intestinal polyposi...	ORPHA:388
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Immunodeficiency 22	Chronic oral candidiasis, Anemia, Decreased circulating IgE, Panniculitis, Diarrhea, Ascites, Fai...	OMIM:615758
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Subcutaneous panniculitis-like T-cell lymphoma, Anemia, Hemophagocytosis, Panniculitis, Pancytope...	OMIM:618398
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Failure to thrive, Enterocolitis, Bone marrow hypocellularity	OMIM:301108
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased circulating total IgM, Recurrent otitis media, Squamous cell carcinoma, Sclerosing chol...	OMIM:243700
Lig4 Syndrome	Pancytopenia, Chronic sinusitis, Failure to thrive, Acute lymphoblastic leukemia, Thrombocytopeni...	OMIM:606593
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Splenomegaly, Nausea and...	ORPHA:79477
Laryngotracheoesophageal Cleft Type 4	Cachexia, Tracheoesophageal fistula, Abnormal mesentery morphology, Abnormality of the spleen, In...	ORPHA:93941
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Feeding d...	OMIM:257200
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Squamous cell carcinoma of the tongue, Persistence of ...	OMIM:618849
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti...	OMIM:617237
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ...	OMIM:608203
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Immunodeficiency 87 And Autoimmunity	Cholestasis, Ascites, Hodgkin lymphoma, Lymphopenia, Hepatic steatosis, Decreased CD4:CD8 ratio, ...	OMIM:619573
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Ascites, Pyloric s...	ORPHA:381
Systemic Capillary Leak Syndrome	Myocarditis, Pancreatitis, Diarrhea, Abdominal pain, Leukocytosis, Multiple myeloma, Pericarditis...	ORPHA:188
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:277580
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Harderoporphyria	Increased fecal harderoporphyrin, Hepatomegaly, Reticulocytosis, Vomiting, Prolonged neonatal jau...	OMIM:618892
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Thyroiditis, Increase...	OMIM:617388
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Panniculitis, Inflammatory abnormality of the eye, Abdominal pain, Splenomegaly, We...	ORPHA:33577
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Lymphopenia, Abn...	OMIM:619767
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Failure to thrive, Splenomegaly, Acholic stools	OMIM:619868
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Inflammatory Pseudotumor Of The Liver	Abdominal distention, Cirrhosis, Increased hepatitis B virus antibody level, Abdominal pain, Abno...	ORPHA:90003
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Arthritis, Failure to thrive, Splenomegaly	OMIM:228000
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Pneumocystosis	Chronic oral candidiasis, Increased circulating antibody level, Abnormal neutrophil count, Acute ...	ORPHA:723
Autoinflammatory Disease, Systemic, X-Linked	Panniculitis, B lymphocytopenia, Complete or near-complete absence of specific antibody response ...	OMIM:301081
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Gastric vari...	ORPHA:64743
Storage Pool Platelet Disease	Acute leukemia, Myelodysplasia, Decreased mean platelet volume	OMIM:185050
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Lymphoma, Impa...	OMIM:613179
Waardenburg-Shah Syndrome	Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ...	ORPHA:897
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Panniculitis, Lymphadenopathy, Increased proportion of CD4-positive T cells, Diarrhea, Chronic di...	OMIM:617099
Alpha-1-Antitrypsin Deficiency	Gastric varix, Cirrhosis, Hepatocellular carcinoma, Splenomegaly, Bronchiectasis	OMIM:613490
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Generalized hyperpigmentation, Hypopigmentation of the skin, Hypopigme...	ORPHA:33445
Immunodeficiency 26 With Or Without Neurologic Abnormalities	B lymphocytopenia, Recurrent aphthous stomatitis, Abnormal natural killer cell morphology, T lymp...	OMIM:615966
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Diarrhea, Esophageal varix, Splenomegaly, Nausea and vomiting,...	ORPHA:75234
Adult Idiopathic Neutropenia	Recurrent aphthous stomatitis, Increased circulating IgM level, Helicobacter pylori infection, Ly...	ORPHA:2688
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal distention, Steatorrhea, Iron deficiency anemia, Diarrhea, Abdominal pain, Exocrine pan...	ORPHA:309031
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Abdominal pain, Necrotizing enterocolitis, High palate, Vomiting, Feeding difficulties	OMIM:616809
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Inflammatory abnormality of the eye, Leukocytosis, Abnorma...	ORPHA:1451
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Feeding difficulties	OMIM:610333
Cryptogenic Organizing Pneumonia	Anorexia, Neutrophilia, Leukocytosis, Weight loss	ORPHA:1302
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Brucellosis	Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Anorexia, Myocarditis, Incre...	ORPHA:1304
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Acute myeloid leukemia, Chronic myelomonocytic leukemia	OMIM:616604
Hyper-Igd Syndrome	Chronic oral candidiasis, Lymphadenopathy, Diarrhea, Chronic diarrhea, Increased circulating IgA ...	OMIM:260920
Castleman Disease	Intestinal obstruction, Abdominal distention, Jaundice, Anemia, Mediastinal lymphadenopathy, Lymp...	ORPHA:160
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p...	OMIM:601399
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy, Glossitis, Chronic diarrhea, Neoplasm of the breast, Neoplasm ...	ORPHA:2221
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Diarrhea, Hepatocellular carcinoma, Intermitte...	OMIM:601847
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Abnormality of the pancreas, Hepatomegaly, Increased circula...	ORPHA:400
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased...	OMIM:617052
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Decreased body weight, Thrombocytopenia, Splenomegaly	OMIM:231000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Abdominal pain, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poik...	OMIM:300908
Chronic Granulomatous Disease	Hepatomegaly, Mediastinal lymphadenopathy, Liver abscess, Inflammatory abnormality of the eye, Tr...	ORPHA:379
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly, Dysphagia	ORPHA:77260
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Myositis, Increased...	OMIM:620565
Neuroendocrine Tumor Of Stomach	Hematemesis, Intermittent diarrhea, Anorexia, Hepatomegaly, Bowel urgency, Iron deficiency anemia...	ORPHA:100075
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Diarrhea, Splenomegaly, Nausea and vomiting, Hemolytic anemia	ORPHA:56425
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Inflammation of the large ...	OMIM:232220
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Esophageal varix, Ascites, Portal hypertension, Thrombocy...	OMIM:619463
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hepatic fibrosis	OMIM:613313
Selective Igm Deficiency	Decreased proportion of CD3-positive T cells, Chronic diarrhea, Crohn's disease, Decreased propor...	ORPHA:331235
Primary Sclerosing Cholangitis	Adenocarcinoma of the large intestine, Cholestasis, Ascites, Acute hepatic failure, Splenomegaly,...	ORPHA:171
Piebald Trait	Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven...	OMIM:172800
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure, Myeloid leukemia	ORPHA:331
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Erysipelas, Neonatal cholestatic liver disease, Splenomegaly, ...	OMIM:214900
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Lymphadenitis, ...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Lymphadenitis, ...	OMIM:233710
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Abdominal pain, Posterior uveitis, Constipa...	ORPHA:52417
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co...	ORPHA:158061
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Enterocolitis	OMIM:620425
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Down Syndrome	Narrow palate, Aganglionic megacolon, Gastroesophageal reflux, Leukemia, Abnormality of the lymph...	ORPHA:870
Fanconi Anemia, Complementation Group C	Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Small for...	OMIM:227645
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Chronic diarrhea, Failure to thrive, Recurrent infection of the gastroin...	OMIM:613489
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Diarrhea, Failure to thrive, Splen...	OMIM:235555
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Intestinal obstruction, Gastrointestinal hemorrhage, Hepatomegaly, Abno...	ORPHA:85450
Pleural Mesothelioma	Hepatomegaly, Dysphagia, Lymphadenopathy, Weight loss	ORPHA:50251
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Dysphagia, Allergic rhinitis, Abdominal pain, Lactose intolerance, Atopic dermatitis, Eosinophili...	ORPHA:411696
Prolidase Deficiency	Hepatomegaly, Anemia, Increased circulating antibody level, High palate, Eczematoid dermatitis, F...	OMIM:170100
Piebaldism	Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ...	ORPHA:2884
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Lymphadenitis, ...	OMIM:233690
Celiac Disease, Susceptibility To, 1	Abdominal distention, Steatorrhea, Iron deficiency anemia, Macrocytic anemia, Recurrent aphthous ...	OMIM:212750
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ...	ORPHA:3437
Fanconi Anemia, Complementation Group E	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Small for gestational age, Leukemia, N...	OMIM:600901
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli...	OMIM:266200
Oculocutaneous Albinism Type 4	Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm...	ORPHA:79435
Macrocephaly/Autism Syndrome	Large for gestational age, Hepatomegaly, Recurrent otitis media, Decreased circulating antibody l...	OMIM:605309
Agammaglobulinemia 1, Autosomal Recessive	Recurrent otitis media, Panhypogammaglobulinemia, B lymphocytopenia, Rectal abscess, Decreased ci...	OMIM:601495
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepati...	ORPHA:848
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abdominal pain, Abnormality of th...	ORPHA:1414
Sarcoidosis, Susceptibility To, 1	Anorexia, Hepatomegaly, Mediastinal lymphadenopathy, Increased circulating antibody level, Abnorm...	OMIM:181000
Neuroblastoma, Susceptibility To, 1	Anemia, Diarrhea, Abdominal pain, Abdominal mass, Neuroblastoma, Failure to thrive, Ganglioneurom...	OMIM:256700
Bloom Syndrome	Squamous cell carcinoma, Malar rash, Lymphoma, Decreased circulating IgG level, Elevated hemoglob...	OMIM:210900
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	OMIM:620010
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Increased circulating antibody level, Weight loss	ORPHA:411593
Obesity And Hypopigmentation	Red hair	OMIM:620195
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Giant cell hepatitis, Steatorrhea, D...	OMIM:607765
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Pyomyositis	Testicular teratoma, Myositis, Leukocytosis, Weight loss, Recurrent cutaneous abscess formation	ORPHA:764
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular adenoma, Enlarged kidney, Anemia, Pancreatitis, Hepatomegaly, Increased hepatic gl...	ORPHA:79259
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Protein-losing enteropathy, Anemia, Glossitis, Cachexia, Abdominal pain, Diarrhea, Hama...	OMIM:175500
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Anemia, Diarrhea, Failure to thrive, Weight loss, Nausea and vomiting	ORPHA:1842
Fanconi Anemia, Complementation Group A	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Small for gestational age, Leukemia, N...	OMIM:227650
Fanconi Anemia, Complementation Group D2	Annular pancreas, Anemia, Esophageal atresia, Pancytopenia, Reticulocytopenia, Tracheoesophageal ...	OMIM:227646
Rat-Bite Fever	Abdominal aseptic abscess, Morbilliform rash, Myocarditis, Pancreatitis, Anemia, Diarrhea, Arthri...	ORPHA:31205
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Maculopapular exanthema, Pancytopenia, Malar rash, Skin ra...	ORPHA:398124
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Acute leukemia, Rhabdomyosarcoma, T-cell lymphoma, Anal stenosis, An...	ORPHA:647
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Q Fever	Anorexia, Myocarditis, Pneumonia, Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating an...	ORPHA:781
Amyloidosis, Familial Visceral	Skin rash, Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Holocarboxylase Synthetase Deficiency	Anorexia, Perioral eczema, Keratoconjunctivitis, Eczematoid dermatitis, Thrombocytopenia, Weight ...	ORPHA:79242
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Interlobular bile duct destruction,...	ORPHA:562639
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Abdominal pain, Splenic infarction, Leukocytosis, Target ...	OMIM:603903
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Peripheral Primitive Neuroectodermal Tumor	Spinal cord tumor, Pelvic mass, Anorexia, Neoplasm of the pancreas, Anemia, Ovarian neoplasm, Jau...	ORPHA:370348
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Pelger-Huet Anomaly	Recurrent otitis media, Giant platelets, Median cleft palate, Hyposegmentation of neutrophil nucl...	OMIM:169400
Takayasu Arteritis	Anorexia, Gastrointestinal infarctions, Anemia, Inflammatory abnormality of the eye, Arthritis, W...	ORPHA:3287
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Interstitial pneumonitis, Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Cap Polyposis	Abdominal distention, Colorectal polyposis, Diarrhea, Abdominal pain, Constipation, Hematochezia,...	ORPHA:160148
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Diarrhea, Cachexia, Vomiting, Failure to thrive, Feeding difficulties, Weight loss	OMIM:612075
Osteootohepatoenteric Syndrome	Increased intestinal transit time, Anemia, Portal fibrosis, Episodic vomiting, Microvesicular hep...	OMIM:619377
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Diarrhea, Intrahepatic cholestasis with episod...	OMIM:211600
Glycogen Storage Disease Ixb	Diarrhea, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Alopecia	ORPHA:1067
Ornithine Transcarbamylase Deficiency	Pyloric stenosis, Splenomegaly, Hepatic failure	ORPHA:664
Waardenburg Syndrome Type 1	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo...	ORPHA:894
Graft Versus Host Disease	Inflammatory abnormality of the eye, Jaundice, Abdominal pain, Failure to thrive, Nausea, Hepatos...	ORPHA:39812
Microsporidiosis	Intermittent diarrhea, Cachexia, Chronic diarrhea, Sinusitis, Biliary tract abnormality, Anorexia...	ORPHA:2552
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat...	OMIM:616828
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Rectovaginal fistula, Inflammation of the large intestine, Dysphagia, Lymphopenia, Bronchiectasis...	OMIM:619708
Rothmund-Thomson Syndrome	Aplastic anemia, Basal cell carcinoma, Anemia, Squamous cell carcinoma, Diarrhea, Malar rash, Neo...	ORPHA:2909
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Alveolar Echinococcosis	Decreased liver function, Liver abscess, Anemia, Jaundice, Cholangitis, Increased circulating ant...	ORPHA:284
Lysosomal Acid Lipase Deficiency	Decreased liver function, Steatorrhea, Cachexia, Ascites, Fatal liver failure in infancy, Nausea ...	ORPHA:275761
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hepatomegaly, Skin rash, Failu...	OMIM:603553
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Anorexia, Cirrhosis, Jaundice, Pancreatitis, Cholelithiasis, Abdominal...	ORPHA:65682
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Gastrointestinal infarctions, Pancreatitis, Acute colitis, Abdominal pain, Diarrhea,...	ORPHA:544482
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Diarrhea, Pheochromocytoma, Neoplasm of th...	ORPHA:1332
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Anemia, Leukocytosis, Weight loss	ORPHA:90060
Familial Mediterranean Fever	Hepatomegaly, Diarrhea, Crohn's disease, Abdominal pain, Arthritis, Leukocytosis, Episodic abdomi...	OMIM:249100
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Mevalonic Aciduria	Morbilliform rash, Fluctuating splenomegaly, Anemia, Lymphadenopathy, Diarrhea, Skin rash, Leukoc...	OMIM:610377
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Basal cell carcinoma, Anemia, Squamous cell carcinoma, Diarrhea, Functional abno...	ORPHA:221016
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Anemia, Splenomegaly	ORPHA:1046
Kindler Epidermolysis Bullosa	Cheilitis, Anemia, Squamous cell carcinoma, Periodontitis, Esophagitis, Inflammation of the large...	ORPHA:2908
Legionnaires Disease	Anorexia, Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Diarrhea, Abdominal pain, Bone ma...	ORPHA:549
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Basal cell carcinoma, Anemia, Squamous cell carcinoma, Diarrhea, Functional abno...	ORPHA:221008
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Feeding difficulties	OMIM:613224
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Stomatitis, Skin rash, Pustule, Neutrophilia, Splenomegaly, Failure to thrive in in...	OMIM:612852
Roifman Syndrome	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Eczematoid dermatitis, Recurrent pneumonia...	OMIM:616651
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Feeding difficulties in infancy, Failure to thrive, Splenomegaly, Macrocytic anemia	OMIM:619046
Fanconi Anemia, Complementation Group N	Aplastic anemia, Acute myeloid leukemia, Anal atresia, Neuroblastoma, Medulloblastoma, Nephroblas...	OMIM:610832
Malignant Peritoneal Mesothelioma	Abdominal distention, Ileus, Abdominal pain, Ascites, Peritonitis, Weight loss, Neoplasm	ORPHA:168811
Whipple Disease	Anorexia, Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, An...	ORPHA:3452
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Chronic oral candidiasis, Hepatomegaly, Recurrent otitis media, G...	OMIM:608233
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Icf Syndrome	Anemia, Decreased circulating antibody level, Protruding tongue, Malabsorption, Lymphopenia, Abno...	ORPHA:2268
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Myelodysplasia, Feeding difficulties, Leukemia	OMIM:619951
Transaldolase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Poor suck, Failure to th...	OMIM:606003
Gaucher Disease Type 1	Increased circulating antibody level, Ascites, Leukopenia, Splenomegaly, Anorexia, Pancytopenia, ...	ORPHA:77259
Somatostatinoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Steatorrhea, Ascit...	ORPHA:97283
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc...	OMIM:620367
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Nephroblastoma	Lymphadenopathy, Abdominal pain, Neoplasm of the lung, Weight loss, Neoplasm, Nephroblastoma, Neo...	ORPHA:654
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Diarrhea, Fibro-obliterative bile-duct lesion, ...	OMIM:619849
Congenital Tufting Enteropathy	Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec...	ORPHA:92050
Anaplastic Thyroid Carcinoma	Lymphadenopathy, Anaplastic thyroid carcinoma, Neoplasm of the lung, Neoplasm of the skeletal sys...	ORPHA:142
Kikuchi-Fujimoto Disease	Anorexia, Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Abn...	ORPHA:50918
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Arthritis, Skin rash, Abdominal pain, Pericarditis, Splenomegaly, ...	ORPHA:85414
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Neuroendocrine Tumor Of The Rectum	Anorexia, Bowel urgency, Hepatomegaly, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody di...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Bowel urgency, Hepatomegaly, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody di...	ORPHA:100082
Tarp Syndrome	Extramedullary hematopoiesis, Glossoptosis, Failure to thrive, Cleft palate, Abnormal duodenum mo...	ORPHA:2886
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Chronic Hiccup	Malnutrition, Weight loss	ORPHA:396
Chediak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Lymphadenopathy, Hepatomegaly, Periodontitis, Recurrent bacte...	OMIM:214500
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Bone marrow hypocellularity, Recurrent sinusitis, Leukopenia, Splenomegaly, Lymphopeni...	OMIM:615688
Sandifer Syndrome	Hematemesis, Anemia, Gastroesophageal reflux, Episodic vomiting, Esophagitis, Feeding difficultie...	ORPHA:71272
American Trypanosomiasis	Myocarditis, Hepatomegaly, Aganglionic megacolon, Lymphadenopathy, Diarrhea, Abdominal pain, Skin...	ORPHA:3386
Neuroendocrine Tumor Of The Colon	Anorexia, Bowel urgency, Hepatomegaly, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody di...	ORPHA:100080
Mody	Hepatocellular adenoma, Neonatal hypoglycemia, Hypoinsulinemia, Pancreatic hypoplasia, Glycosuria...	ORPHA:552
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Steatorrhea, Acholic stools, Diarrhe...	OMIM:613812
Glucagonoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Steatorrhea, Normo...	ORPHA:97280
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis	OMIM:619658
Hemochromatosis, Type 2A	Arthritis, Cirrhosis, Hepatomegaly, Splenomegaly	OMIM:602390
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Lymphadenitis, ...	OMIM:306400
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Rhabdomyosarcoma, Dysgammaglobulinemia, Recurrent otitis media, Anal...	OMIM:251260
Hurler-Scheie Syndrome	Abnormality of the tonsils, Rhinitis, Hepatomegaly, Splenomegaly	ORPHA:93476
Multiple Myeloma	Anemia, Lymphadenopathy, Increased circulating IgG level, Functional abnormality of the gastroint...	ORPHA:29073
Tatton-Brown-Rahman Syndrome	Obesity, Neuroendocrine neoplasm, Myeloid leukemia	ORPHA:404443
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Intestinal obstruction, Gastroesophageal reflux, Myositis, Abdominal pain, Skin rash...	ORPHA:183
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal fibrosis, Diarrhea, Portal in...	OMIM:602347
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Lymphadenopathy, Hip osteoarthritis, Knee osteoarthritis, Arthritis, Synovitis, Hepatospl...	ORPHA:85408
Immunodeficiency 55	Lymphadenopathy, Diarrhea, Eczematoid dermatitis, Lymphopenia, Recurrent skin infections, Absent ...	OMIM:617827
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pituitary adenoma, Nausea and vomiting, Ur...	ORPHA:440437
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Splenomegaly, Cardiomegaly	OMIM:256550
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Hepatomegaly, Panniculitis, Lymphadenopathy, Myositis, Splenomegaly	OMIM:619183
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils, Osteosarcoma	ORPHA:2760
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopa...	ORPHA:809
Immunodeficiency 47	Decreased circulating total IgG, Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Ch...	OMIM:300972
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombo...	ORPHA:158048
Aicardi-Goutieres Syndrome 7	Hematemesis, Increased circulating antibody level, Skin rash, Chilblains, Hematochezia, Splenomeg...	OMIM:615846
Hemophagocytic Lymphohistiocytosis, Familial, 1	Jaundice, Anemia, Hemophagocytosis, Lymphadenopathy, Hepatomegaly, Failure to thrive, Thrombocyto...	OMIM:267700
Ileal Neuroendocrine Tumor	Intermittent diarrhea, Lymphadenopathy, Iron deficiency anemia, Episodic vomiting, Episodic abdom...	ORPHA:100078
Loeffler Endocarditis	Eosinophilia, Pericarditis, Weight loss, Left ventricular hypertrophy	ORPHA:75566
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Skin rash, Thrombocytopenia, Splenomegaly	ORPHA:290
Muckle-Wells Syndrome	Hepatomegaly, Anemia, Recurrent aphthous stomatitis, Abdominal pain, Skin rash, Arthritis, Episcl...	ORPHA:575
Neuroblastoma	Abdominal distention, Anemia, Lymphadenopathy, Chronic diarrhea, Neoplasm of the nervous system, ...	ORPHA:635
Mosaic Variegated Aneuploidy Syndrome 1	Feeding difficulties in infancy, Cleft palate, Embryonal rhabdomyosarcoma, Nephroblastoma, Small ...	OMIM:257300
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:177910
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:614072
Late-Onset Isolated Acth Deficiency	Anorexia, Normocytic anemia, Macrocytic anemia, Diarrhea, Abdominal pain, Celiac disease, Constip...	ORPHA:199299
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Diarrhea, Abdominal pain, Skin rash, Constipation, Spl...	ORPHA:99745
Plague	Hematemesis, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia, Skin ras...	ORPHA:707
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Episodic vomiting, Periportal fibrosis, Gastroesophageal reflux, Necrotizing entero...	OMIM:201475
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, High palate, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Dyskeratosis Congenita, X-Linked	Cirrhosis, Anemia, Acute myeloid leukemia, Squamous cell carcinoma, Pancytopenia, Carcinoma, Orop...	OMIM:305000
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Abdominal pain,...	OMIM:210250
Fumarase Deficiency	Intrahepatic cholestasis, Cutaneous leiomyoma, High palate, Ascites, Necrotizing enterocolitis, F...	OMIM:606812
Attrv30M Amyloidosis	Cardiomegaly, Diarrhea, Weight loss, Constipation	ORPHA:85447
Retinoblastoma	Retinoblastoma, Lymphoma, Ewing sarcoma, Cleft palate, Osteosarcoma, Pinealoma, Leukemia	OMIM:180200
Glycogen Storage Disease Ic	Hepatomegaly, Chronic pancreatitis, Stomatitis, Hepatocellular carcinoma, Inflammation of the lar...	OMIM:232240
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Increased circulating antibody level, Visceromegaly, Ascites, Hema...	ORPHA:2905
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly, Gastroesophageal reflux	ORPHA:2414
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Failure to thrive in infancy, Colitis	OMIM:301220
Cryptococcosis	Cirrhosis, Pneumonia, Mediastinal lymphadenopathy, Prostatitis, Vomiting, Peritonitis, Neoplasm, ...	ORPHA:1546
Oculopharyngodistal Myopathy	High, narrow palate, Oral-pharyngeal dysphagia, High palate, Impaired oropharyngeal swallow respo...	ORPHA:98897
Juvenile Xanthogranuloma	Blepharitis, Iritis, Myeloproliferative disorder, Uveitis	ORPHA:158000
Vici Syndrome	Chronic mucocutaneous candidiasis, High palate, Cutaneous anergy, Median cleft palate, T lymphocy...	OMIM:242840
Peritoneal Cystic Mesothelioma	Abdominal distention, Abdominal pain, Constipation, Peritonitis, Weight loss, Neoplasm	ORPHA:168816
Leukocyte Adhesion Deficiency	Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp...	ORPHA:2968
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Oculocutaneous Albinism Type 2	Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi...	ORPHA:79432
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Anemia, Acute pancreatitis, Ascites, Portal hypertension, Chilblains, Failure to th...	OMIM:619487
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis	ORPHA:294
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Perioral eczema, Recurrent aphthous stomatitis, Anoperineal fistula, Diarrhea, Abdominal pain, Re...	OMIM:613960
Insulin-Resistance Syndrome Type B	Abnormal salivary gland morphology, Increased circulating IgG level, Increased circulating IgA le...	ORPHA:2298
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Anemia, Pancreatitis, Diarrhea, Abdominal pain, Conjunctivitis, Thro...	ORPHA:36426
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Episodic vomiting, Gastroesophageal reflux, T lymphocytopenia, Bifid uv...	ORPHA:2959
Beta-Ketothiolase Deficiency	Anorexia, Hepatomegaly, Diarrhea, Leukocytosis, Vomiting, Weight loss, Thrombocytosis	ORPHA:134
Lynch Syndrome	Neoplasm of the stomach, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal polypo...	ORPHA:144
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Pancreatitis, Anemia, Abdominal pain, Intestinal perforation, Trache...	ORPHA:537
Mulibrey Nanism	Cachexia, Hepatomegaly	ORPHA:2576
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Abdominal distention, Hepatomegaly, Diarrhea, Biliary tract obstruction, Intrahepatic c...	ORPHA:100085
Vipoma	Neoplasm of the pancreas, Normochromic anemia, Ascites, Abnormal gastrointestinal motility, Pitui...	ORPHA:97282
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Panniculitis, High palate, Hypoplas...	OMIM:612541
Aredyld Syndrome	Cachexia, Refractory anemia with ringed sideroblasts, Hepatomegaly, Splenomegaly	ORPHA:1133
Acute Promyelocytic Leukemia	Acute promyelocytic leukemia	OMIM:612376
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Lymphadenopathy, Diarrhea, Abdominal pain, Skin rash, Arthritis, Myositis...	ORPHA:32960
Retinoblastoma	Rhabdomyosarcoma, Leiomyosarcoma, Retinoblastoma, Lymphoma, Ewing sarcoma, Melanoma, Glioma, Clef...	ORPHA:790
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent otitis media, Lymphadenopathy, Juvenile rheumatoid arthritis, T lymphocytopenia, Rheuma...	OMIM:607944
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Gastroesophageal reflux, Pancytopenia, Chronic diarrhea, Portal hypertension, Feedi...	OMIM:613385
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Rectal prolapse, Anemia, Protein-losing enteropathy, Melena, High, n...	ORPHA:79076
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret...	ORPHA:79434
Oculocutaneous Albinism Type 1	Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash...	ORPHA:352731
Combined Immunodeficiency Due To Crac Channel Dysfunction	Chronic otitis media, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Neoplasm, Pn...	ORPHA:169090
Erythrokeratodermia Variabilis	Neoplasm of the skin, Weight loss, Skin rash	ORPHA:317
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dysphagia, Uterine neoplasm, Dyspepsia, Vaginal neoplasm, Failure to thrive, Tracheobronchial lei...	ORPHA:1018
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
3-Hydroxy-3-Methylglutaric Aciduria	Anorexia, Jaundice, Anemia, Hepatomegaly, Episodic vomiting, Diarrhea, Acute pancreatitis, Leukoc...	ORPHA:20
Al Amyloidosis	Abdominal distention, Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Increased circulating an...	ORPHA:85443
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Weight loss	ORPHA:30925
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Dubowitz Syndrome	Aplastic anemia, Episodic vomiting, Gastroesophageal reflux, Chronic diarrhea, High palate, Lymph...	OMIM:223370
Central Diabetes Insipidus	Anorexia, Diarrhea, Failure to thrive, Weight loss, Nausea and vomiting	ORPHA:178029
Klatskin Tumor	Hepatomegaly, Jaundice, Lymphadenopathy, Abdominal pain, Weight loss, Cholangiocarcinoma, Extrahe...	ORPHA:99978
Gaucher Disease, Type Ii	Hepatomegaly, Anemia, Gastroesophageal reflux, Failure to thrive, Thrombocytopenia, Splenomegaly,...	OMIM:230900
Gallbladder Neuroendocrine Tumor	Anorexia, Abdominal distention, Biliary tract obstruction, Neoplasm of the nervous system, Interm...	ORPHA:100086
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Lymphadenopathy, Inflammatory abnormality of the eye, Diarrhea, Abdominal pain, Ski...	ORPHA:36412
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Abdominal pain, Arthritis, Hepatocellular carcinoma, Chronic hepatic fai...	ORPHA:465508
Cryoglobulinemic Vasculitis	Gastrointestinal infarctions, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopa...	ORPHA:91138
Thymic Neuroendocrine Tumor	Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neo...	ORPHA:97289
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Multiple myeloma, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Scrub Typhus	Myocarditis, Lymphadenopathy, Abdominal pain, Skin rash, Splenomegaly, Anterior uveitis, Nausea a...	ORPHA:83317
Adams-Oliver Syndrome 6	Hepatic fibrosis, Esophageal varix, Splenomegaly, Portal hypertension	OMIM:616589
Dubowitz Syndrome	Rectal prolapse, Anal stenosis, Anemia, Chronic diarrhea, High palate, Lymphoma, Eczematoid derma...	ORPHA:235
Pulmonary Non-Tuberculous Mycobacterial Infection	Bronchiectasis, Diarrhea, Lymphadenopathy, Weight loss	ORPHA:411703
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Hepatomegaly, Protruding tongue, Failure to thrive, Splenomegaly, Dysphagia	OMIM:230600
Familial Mediterranean Fever	Intestinal obstruction, Skin rash, Ascites, Pericarditis, Acute hepatic failure, Splenomegaly, Na...	ORPHA:342
Diencephalic Syndrome	Cachexia, Neoplasm of the nervous system, Decreased body weight	ORPHA:1672
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla...	OMIM:139090
Grfoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pheochromocytoma, ...	ORPHA:97261
Alopecia Totalis	Inflammation of the large intestine	ORPHA:700
Solitary Fibrous Tumor	Pelvic mass, Genital neoplasm, Abnormal peritoneum morphology, Neoplasm of the nervous system, Ne...	ORPHA:2126
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,...	OMIM:301310
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr...	OMIM:153670
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Lymphocytoma cutis, Pericardit...	ORPHA:449395
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Ppoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Ascites, Pituitary...	ORPHA:97278
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Abdominal pain, Reticulocytosis, Poikilocytosis, Prolonged neonatal jau...	ORPHA:288
Thymic Carcinoma	Mediastinal lymphadenopathy, Neoplasm of the thymus, Weight loss	ORPHA:99868
Fish-Eye Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Sapho Syndrome	Steatorrhea, Chronic diarrhea, Skin rash, Abdominal pain, Arthritis, Neoplasm of the skeletal sys...	ORPHA:793
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Splenomegaly, Osteomyelitis	OMIM:259700
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Siderobla...	OMIM:616084
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Poor suck, Failure to thrive, Hepatosplenomegaly, Splenomegaly	OMIM:613563
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Malnutrition, Intermittent diarrhea, Gastroparesis, Intestinal pseudo-obstruction, Diarrhea, Cach...	OMIM:603041
Hermansky-Pudlak Syndrome 1	Abdominal pain, Colitis, Hematochezia, Inflammation of the large intestine	OMIM:203300
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Lysinuric Protein Intolerance	Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Protein avoidance, Diarrhea, Vomiting, Fail...	OMIM:222700
Chronic Thromboembolic Pulmonary Hypertension	Myeloproliferative disorder, Inflammation of the large intestine, Obesity, Neoplasm, Osteomyelitis	ORPHA:70591
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411515
Legius Syndrome	Ovarian neoplasm, Acute monocytic leukemia, Non-small cell lung carcinoma, Desmoid tumors, Nephro...	ORPHA:137605
Alexander Disease Type I	Vomiting, Cachexia, Failure to thrive, Dysphagia	ORPHA:363717
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Narrow palate, Abnormal B cell morphology, Glabellar hemangioma, T lymphocytopenia, Hashimoto thy...	OMIM:618223
Poikiloderma With Neutropenia	Recurrent otitis media, Skin rash, Blepharitis, Recurrent sinusitis, Leukopenia, Splenomegaly, Re...	OMIM:604173
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Isaacs Syndrome	Weight loss	ORPHA:84142
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Red hair	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Red hair	ORPHA:71526
Zollinger-Ellison Syndrome	Duodenal ulcer, Gastrointestinal hemorrhage, Intestinal obstruction, Lipoma, Pituitary growth hor...	ORPHA:913
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Anemia, Macrovesicular hepatic steatosis, Bone marrow hypocellular...	OMIM:617303
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Anemia, Portal fibrosis, Hepatomegaly, Diarrhea, Increased bod...	ORPHA:264580
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Splenomegaly, Erythema nodosum, Uveitis	OMIM:612387
Liposarcoma	Nausea and vomiting, Abdominal pain, Sarcoma, Weight loss	ORPHA:69078
Congenital Enterocyte Heparan Sulfate Deficiency	Abdominal distention, Protein-losing enteropathy, Diarrhea, Hematochezia, Weight loss	ORPHA:103910
Yao Syndrome	Diarrhea, Abdominal pain, Skin rash, Xerostomia, Arthritis, Pericarditis, Inflammatory abnormalit...	OMIM:617321
Mosaic Variegated Aneuploidy Syndrome	Rhabdomyosarcoma, Intestinal polyposis, Stomach cancer, Ascites, Vaginal neoplasm, Acute lymphobl...	ORPHA:1052
Systemic Lupus Erythematosus	Anorexia, Cheilitis, Lymphadenopathy, Malar rash, Arthritis, Discoid lupus rash, Thrombocytopenia...	ORPHA:536
Pediatric-Onset Graves Disease	Jaundice, Hepatomegaly, Diarrhea, Neutropenia in presence of anti-neutropil antibodies, Episcleri...	ORPHA:525731
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Diarrhea, Impaired T cell function, Failure to thrive, Poor appetite, Splenomegaly	OMIM:201100
Granulomatosis With Polyangiitis	Chronic otitis media, Episcleritis, Sinusitis, Keratitis, Weight loss, Conjunctivitis, Granulomat...	OMIM:608710
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Ermine Phenotype	Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme...	ORPHA:999
Gm1 Gangliosidosis	Gastroesophageal reflux, Aspiration pneumonia, Failure to thrive, Hepatosplenomegaly, Dysphagia, ...	ORPHA:354
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Periportal fibrosis, Ascites, Portal hypertension, Vomiting, Failure to t...	OMIM:251880
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin...	ORPHA:79431
Diamond-Blackfan Anemia 7	Recurrent otitis media, Macrocytic anemia, Increased mean corpuscular volume, Esophagitis, Cleft ...	OMIM:612562
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Severe failure to thrive, Jaundice, Hepatomegaly, Periportal...	ORPHA:30391
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly	OMIM:306000
Triosephosphate Isomerase Deficiency	Normocytic anemia, Chronic hemolytic anemia, Jaundice, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Bronchial Neuroendocrine Tumor	Anorexia, Bowel urgency, Hepatomegaly, Chronic noninfectious lymphadenopathy, Pulmonary carcinoid...	ORPHA:97287
Generalized Pseudohypoaldosteronism Type 1	Recurrent tonsillitis, Cholelithiasis, Atopic dermatitis, Vomiting, Pustule, Weight loss, Failure...	ORPHA:171876
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Poor appetite, Weight loss, Conjunctival hamartoma	ORPHA:312
Niemann-Pick Disease, Type C2	Sea-blue histiocytosis, Jaundice, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Duodenal ulcer, Skin rash, Dysphagia, Early satiety, Recurrent cutaneous abscess formation, Gastr...	OMIM:147060
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Capi...	ORPHA:508533
Reactive Arthritis	Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Arthritis, Pericarditis, Pustule, Inflam...	ORPHA:29207
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment...	OMIM:203100
Oculogastrointestinal Muscular Dystrophy	Abdominal distention, Abnormality of the gastrointestinal tract, Gastroparesis, Intestinal pseudo...	ORPHA:1876
Carney-Stratakis Syndrome	Intestinal obstruction, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Adams-Oliver Syndrome 5	Esophageal varix, Portal vein thrombosis, Splenomegaly, Right ventricular hypertrophy, Cavernous ...	OMIM:616028
Obesity Due To Congenital Leptin Deficiency	Obesity, Decreased proportion of CD4-positive helper T cells, Decreased T cell activation	ORPHA:66628
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Pancreatoblastoma	Abdominal distention, Jaundice, Abnormal lymph node morphology, Diarrhea, Abdominal pain, Vomitin...	ORPHA:677
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Obesity Due To Leptin Receptor Gene Deficiency	Obesity, Decreased proportion of CD4-positive helper T cells, Decreased T cell activation	ORPHA:179494
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Villous atrophy, Cholelithiasis, Abdominal pain, Portal hypert...	ORPHA:567983
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldolase act...	OMIM:611881
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Feeding difficulties, Splenomegaly, Neutropenia	OMIM:617050
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Feeding difficulties in infancy, Weight loss, Feeding diff...	ORPHA:704
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Chronic irritative conjunctivitis, Neutropenia	OMIM:258360
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, ...	ORPHA:77293
Ataxia-Telangiectasia	Premature graying of hair, Multiple cafe-au-lait spots, Hypopigmentation of hair	ORPHA:100
Christianson Syndrome	Feeding difficulties in infancy, Cachexia, Dysphagia, Gastroesophageal reflux	ORPHA:85278
Polymyositis	Anorexia, Gastrointestinal hemorrhage, Hepatomegaly, Gastroesophageal reflux, Abdominal pain, Art...	ORPHA:732
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Feeding difficulties	ORPHA:157973
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Esophagitis, Gastroesophageal reflux	OMIM:109350
Chédiak-Higashi Syndrome	Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast ...	ORPHA:167
Waardenburg Syndrome	Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir...	ORPHA:3440
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Anemia, Constipation, Failure to thrive, Splenomegaly, Feeding difficulties in infancy	OMIM:239200
Huntington Disease-Like 2	Weight loss	OMIM:606438
Hereditary Orotic Aciduria	Anemia, Splenomegaly, Impaired T cell function	ORPHA:30
Hypercalcemia, Infantile, 1	Vomiting, Failure to thrive, Weight loss	OMIM:143880
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Tu...	OMIM:619418
Igg4-Related Dacryoadenitis And Sialadenitis	Abnormal salivary gland morphology, Lymphadenopathy, Myositis, Thyroiditis, Increased circulating...	ORPHA:79078
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Ileus, Constipation, Failure to thrive, Pyloric stenosis, Recurrent pneumonia, Sple...	OMIM:613327
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit...	OMIM:613266
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Steatorrhea, Cholestasis, Biliary cirrhosis,...	OMIM:613471
Hermansky-Pudlak Syndrome	Anorexia, Basal cell carcinoma, Gastrointestinal hemorrhage, Abdominal pain, Squamous cell carcin...	ORPHA:79430
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Skin rash, Eczematoid dermatitis, Rhe...	ORPHA:79128
Primary Biliary Cholangitis	Gastrointestinal inflammation, Abdominal distention, Cirrhosis, Jaundice, Hepatomegaly, Steatorrh...	ORPHA:186
Behçet Disease	Gastrointestinal hemorrhage, Optic neuritis, Pericarditis, Splenomegaly, Nausea and vomiting, Ano...	ORPHA:117
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Pachydermoperiostosis	Peptic ulcer, Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Seborrheic dermatitis, Neoplasm ...	ORPHA:2796
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Enthesitis, Anteri...	OMIM:106300
Acrodysostosis 2 With Or Without Hormone Resistance	Blue irides, Red hair, Fair hair	OMIM:614613
Non-Functioning Paraganglioma	Episodic abdominal pain, Paraganglioma of head and neck, Nausea, Weight loss, Paraganglioma	ORPHA:94080
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Anemia, Hepatomegaly, Diarrhea, Increased body weight, Hepatoc...	ORPHA:79240
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Acute hepatic failure, Splenomega...	OMIM:618641
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Diarrhea, Cachexia, Vomiting, Cardiomegaly, Hepatic steat...	ORPHA:42
Mucopolysaccharidosis Type 6	Chronic otitis media, Sinusitis, Failure to thrive, Splenomegaly, Macroglossia	ORPHA:583
Carney Complex, Type 1	Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesions, Freckling	OMIM:160980
Moynahan Syndrome	Cachexia	ORPHA:2574
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Pe...	ORPHA:2538
Primary Sjögren Syndrome	Increased circulating antibody level, Normochromic anemia, Optic neuritis, Biliary cirrhosis, Leu...	ORPHA:289390
Dyskeratosis Congenita	Cirrhosis, Neoplasm of the pancreas, Anemia, Hepatomegaly, Anorectal anomaly, Periodontitis, Esop...	ORPHA:1775
Rubinstein-Taybi Syndrome 1	Narrow palate, Hepatic hemangioma, High, narrow palate, Gastroesophageal reflux, Accessory spleen...	OMIM:180849
Down Syndrome	Aganglionic megacolon, Myeloproliferative disorder, Anal atresia, Protruding tongue, Duodenal ste...	OMIM:190685
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Anemia, Decreased circulating IgG level, Recurrent pneumonia, Splenomegaly, Decreas...	OMIM:612301
Huntington Disease	Oral-pharyngeal dysphagia, Decreased body mass index, Weight loss	ORPHA:399
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Isolated Succinate-Coq Reductase Deficiency	Feeding difficulties in infancy, Weight loss, Left ventricular hypertrophy	ORPHA:3208
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Splenomegaly	ORPHA:3035
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly	OMIM:613027
Schinzel-Giedion Syndrome	Annular pancreas, Aganglionic megacolon, Teratoma, Macroglossia, Ependymoma, High palate, Recurre...	ORPHA:798
Tyrosinemia, Type I	Enlarged kidney, Cirrhosis, Anemia, Hepatomegaly, Gastrointestinal hemorrhage, Episodic vomiting,...	OMIM:276700
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Vomiting, Failure to thrive, Osmotic diarrhea, Weight loss, Malnu...	ORPHA:35710
Renal Nutcracker Syndrome	Abdominal pain, Anemia, Weight loss, Nausea	ORPHA:71273
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cirrhosis, Hepatomegaly, Cholestasis, Biliary cirrhosis...	OMIM:208540
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Cholestasis, Esophagitis, Hepatosplenomegaly, Feeding difficulties, Hepatic fibrosis, Hepatic ste...	ORPHA:541423
Granulomatosis With Polyangiitis	Chronic otitis media, Intestinal obstruction, Gastrointestinal hemorrhage, Prostatitis, Pancreati...	ORPHA:900
Scheie Syndrome	Rhinitis, Hepatomegaly, Splenomegaly	ORPHA:93474
Nocardiosis	Anorexia, Scleritis, Liver abscess, Thyroiditis, Lymphadenitis, Vomiting, Pericarditis, Conjuncti...	ORPHA:31204
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the stomach, Pheochromocytoma, Increased body weight, Pulmonary carcinoid tumor, Lymp...	ORPHA:99889
Hypocalcemic Vitamin D-Dependent Rickets	Hepatomegaly, Leukocytosis, Failure to thrive, Splenomegaly, Protuberant abdomen, Hypochromic anemia	ORPHA:289157
Noonan Syndrome	Juvenile myelomonocytic leukemia, Hepatomegaly, Abnormality of the lymphatic system, Abnormal pla...	ORPHA:648
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf...	ORPHA:3214
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Constipation, Cachexia, Failure to thrive in infancy, Feeding difficulties	OMIM:616801
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Biotinidase Deficiency	Hepatomegaly, Diarrhea, Seborrheic dermatitis, Skin rash, Vomiting, Splenomegaly, Conjunctivitis,...	OMIM:253260
Riboflavin Transporter Deficiency	Cachexia, Dysphagia	ORPHA:97229
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Renpenning Syndrome	Cachexia, High, narrow palate, Cleft palate, Anal atresia	ORPHA:3242
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Abnormality of the pancreas, Hepatomegaly, Intractable diarrhea, Villous atr...	OMIM:222470
Tropical Pancreatitis	Jaundice, Abnormal pancreatic duct morphology, Vomiting, Nausea, Pancreatic calcification, Weight...	ORPHA:103918
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Episodic abdominal pain, Vomiting, Nausea, Hepatosplenomegaly, Sple...	OMIM:238600
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Erysipelas, Panniculitis, Lymphoma, Leukemia	ORPHA:2526
Addison Disease	Anorexia, Normocytic anemia, Diarrhea, Abdominal pain, Celiac disease, Constipation, Failure to t...	ORPHA:85138
Noonan Syndrome 2	Acute lymphoblastic leukemia, High palate, Leukemia	OMIM:605275
Idiopathic Bronchiectasis	Acute infectious pneumonia, Cachexia, Bronchiectasis	ORPHA:60033
Cocaine Intoxication	Gastrointestinal infarctions, Abdominal pain, Intestinal perforation, Bloody diarrhea, Vomiting, ...	ORPHA:90068
Sarcoidosis	Decreased liver function, Increased T cell count, Leukopenia, Erythema nodosum, Portal hypertensi...	ORPHA:797
Riddle Syndrome	Generalized lymphadenopathy, Diarrhea, Abdominal pain, Arthritis, Decreased circulating IgG level...	ORPHA:420741
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair	OMIM:618541
Wild Type Attr Amyloidosis	Intermittent diarrhea, Hepatomegaly, Chronic diarrhea, Bowel incontinence, Weight loss, Gastroint...	ORPHA:330001
Muenke Syndrome	Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair	ORPHA:53271
Polyarteritis Nodosa	Pericarditis, Abnormality of the gastrointestinal tract, Weight loss, Abdominal pain	ORPHA:767
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Ellis Van Creveld Syndrome	Acute leukemia, Failure to thrive	ORPHA:289
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Gastroesophageal reflux, Megaloblastic anemia, Esophagitis, Vomiting, Failure to thrive, Feeding ...	ORPHA:79351
Igg4-Related Retroperitoneal Fibrosis	Anorexia, Normocytic anemia, Deep dermal perivascular inflammatory infiltrate, Abdominal pain, Rh...	ORPHA:49041
Multiple Endocrine Neoplasia Type 1	Hematemesis, Duodenal ulcer, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone...	ORPHA:652
Malignant Atrophic Papulosis	Gastrointestinal infarctions, Gastrointestinal hemorrhage, Arteritis, Abdominal pain, Intestinal ...	ORPHA:679
Hardikar Syndrome	Decreased liver function, Hematemesis, Bilateral cleft palate, Intrahepatic bile duct dilatation,...	OMIM:301068
Gaisböck Syndrome	Peptic ulcer, Increased red blood cell count, Elevated plasma cell count, Increased mean corpuscu...	ORPHA:90041
Bullous Pemphigoid	Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis	ORPHA:703
Acrodermatitis Enteropathica	Anorexia, Cheilitis, Glossitis, Chronic diarrhea, Furrowed tongue, Failure to thrive, Pustule, Po...	ORPHA:37
Classic Phenylketonuria	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:79254
17Q11 Microdeletion Syndrome	Rhabdomyosarcoma, Cerebellar glioma, Multiple mucosal neuromas, Pheochromocytoma, Glomus jugular ...	ORPHA:97685
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Esophageal varix, Portal hyperte...	OMIM:263200
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia, Dysphagia, Weight loss	ORPHA:216866
Erdheim-Chester Disease	Anemia, Abdominal pain, Skin rash, Weight loss, Nausea and vomiting, Retroperitoneal fibrosis, Os...	ORPHA:35687
Pearson Syndrome	Steatorrhea, Chronic diarrhea, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Dyspha...	ORPHA:699
Hennekam Syndrome	Lymphadenopathy, Decreased circulating antibody level, Ascites, Pyloric stenosis, Erysipelas, Lym...	ORPHA:2136
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Feeding difficulties, Weight loss, Schwannoma, Malnutrition, Neoplasm,...	ORPHA:221098
Ring Chromosome 10 Syndrome	Cachexia, Aganglionic megacolon	ORPHA:1438
Graves Disease	Abnormal abdomen morphology, Weight loss	OMIM:275000
Mcdonough Syndrome	Cachexia	ORPHA:2471
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Thyroid carcinoma, Intestinal polyposis, Lipoma, Capillary hemangioma, Cachexia, N...	ORPHA:109
Crimean-Congo Hemorrhagic Fever	Hematemesis, Ascites, Leukopenia, Splenomegaly, Erythema nodosum, Nausea and vomiting, Cholecysti...	ORPHA:99827
Multiple Endocrine Neoplasia, Type I	Peptic ulcer, Glucagonoma, Adenoma sebaceum, Adrenocortical adenoma, Diarrhea, Pancreatic islet c...	OMIM:131100
Giant Cell Arteritis	Anorexia, Gastrointestinal infarctions, Mediastinal lymphadenopathy, Glossitis, Abdominal pain, A...	ORPHA:397
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Inflammatory abnormality of the skin, Splenom...	ORPHA:565612
Acute Adrenal Insufficiency	Anorexia, Normocytic anemia, Diarrhea, Abdominal pain, Constipation, Failure to thrive, Weight lo...	ORPHA:95409
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Gastrointestinal hemorrhage, Cholestasis, Ascites, Biliary hyperplasia, Splenome...	ORPHA:731
Camurati-Engelmann Disease	Anorexia, Hepatomegaly, Anemia, Cachexia, Slender build, Leukopenia, Splenomegaly, Feeding diffic...	ORPHA:1328
Parathyroid Carcinoma	Fibroma, Parathyroid carcinoma, Thyroid carcinoma, Peptic ulcer, Pancreatitis, Lipoma, Testicular...	ORPHA:143
Hoyeraal-Hreidarsson Syndrome	Premature graying of hair, Nail dystrophy, Sparse scalp hair, Generalized hyperpigmentation, Gene...	ORPHA:3322
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, High palate	OMIM:609942
Tetrasomy 12P	Cachexia, Anal atresia, Abnormal soft palate morphology	ORPHA:884
Chronic Graft Versus Host Disease	Anorexia, Fasciitis, Keratoconjunctivitis sicca, Abnormal esophagus physiology, Gastroesophageal ...	ORPHA:99921
Chime Syndrome	Acute leukemia, Cleft palate	ORPHA:3474
Familial Tumoral Calcinosis	Neoplasm of the skin, Hepatomegaly, Splenomegaly, Skin rash	ORPHA:53715
Multiple Endocrine Neoplasia Type 4	Pituitary growth hormone cell adenoma, Pituitary corticotropic cell adenoma, Pulmonary carcinoid ...	ORPHA:276152
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Cholelithiasis, Pancytopenia, Cachexia, Bacterial endocarditis, Esophageal varix, Hepatos...	ORPHA:2072
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Lymphadenopathy, Retroperitoneal fibrosis, Pancreatic hypoplasia, Episcleritis, Hep...	OMIM:602782
Neuropathy, Congenital Hypomyelinating, 3	Narrow palate, Cachexia, High palate, Gastroesophageal reflux	OMIM:618186
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98795
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia, Constipation, Feeding difficulties, Nasogastric tube feeding ...	ORPHA:371364
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Acute lymphoblastic leukemia, Hepatomegaly, Cleft palate	OMIM:280000
Hypohidrotic Ectodermal Dysplasia	Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor...	ORPHA:238468
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Bronchiectasis, Weight loss	ORPHA:79127
Mucolipidosis Type Ii	Hepatosplenomegaly, Splenomegaly, Weight loss, Left ventricular hypertrophy, Otitis media, Protub...	ORPHA:576
Perry Syndrome	Weight loss	ORPHA:178509
X-Linked Creatine Transporter Deficiency	Constipation, Cachexia, Aganglionic megacolon, Ileus	ORPHA:52503
Familial Glucocorticoid Deficiency	Anorexia, Diarrhea, Episodic abdominal pain, Vomiting, Failure to thrive, Constipation, Leydig ce...	ORPHA:361
Sporadic Pheochromocytoma/Secreting Paraganglioma	Adrenal pheochromocytoma, Episodic abdominal pain, Paraganglioma of head and neck, Nausea, Paraga...	ORPHA:276621
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Chronic diarrhea, Failure to thrive, Recurrent infection of the gastrointestinal tr...	OMIM:612132
Congenital Erythropoietic Porphyria	Squamous cell carcinoma, Increased fecal coproporphyrin 1, Neoplasm of the skin, Keratoconjunctiv...	ORPHA:79277
Postinfectious Vasculitis	Anorexia, Gastrointestinal inflammation, Increased circulating antibody level, Abdominal pain, In...	ORPHA:48435
Fatal Familial Insomnia	Constipation, Dysphagia, Weight loss	OMIM:600072
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231005
Fanconi Anemia	Aganglionic megacolon, Anemia, Aplasia/Hypoplasia of the uvula, Meckel diverticulum, High palate,...	ORPHA:84
Squalene Synthase Deficiency	Abnormality of hair pigmentation	OMIM:618156
Hereditary Pheochromocytoma-Paraganglioma	Arachnoid hemangiomatosis, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Retinal capil...	ORPHA:29072
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Neutral Lipid Storage Disease With Ichthyosis	Abnormal granulocyte morphology, Hepatomegaly, Hepatic steatosis, Micronodular cirrhosis	ORPHA:98907
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, High, narrow palate, Amegakaryocytic thrombocytopenia, High pal...	OMIM:163950
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Cholelithiasis, Increased fecal coproporphyrin 1, Thrombocytopenia, Splen...	OMIM:263700
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten...	OMIM:610199
Oromandibular Dystonia	Dysphagia, Weight loss	ORPHA:93958
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:411511
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Hepatomegaly, Abdominal pain, Microcolon, Constipation, Splenomegaly, Ileus	ORPHA:163746
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Erythema nodosum, Cardio...	OMIM:256040
Tubulointerstitial Nephritis And Uveitis Syndrome	Anorexia, Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Normochrom...	ORPHA:91500
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Steatorrhea, Cachexia, Chronic diarrhea, Malabsorption	ORPHA:3217
Dermatomyositis	Myocarditis, Myositis, Abnormal eosinophil morphology, Skin rash, Arthritis, Lymphoma, Gastrointe...	ORPHA:221
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Gastrointestinal inflammation, Cirrhosis, Recurrent otitis media, High...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Gastrointestinal inflammation, Cirrhosis, Recurrent otitis media, High...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Gastrointestinal inflammation, Cirrhosis, Recurrent otitis media, High...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Gastrointestinal inflammation, Cirrhosis, Recurrent otitis media, High...	ORPHA:881
Liver Disease, Severe Congenital	Lymphocytosis, Ascites, Biliary hyperplasia, Leukopenia, Splenomegaly, Cardiomegaly, Hepatic stea...	OMIM:619991
Frontometaphyseal Dysplasia 2	Gastroesophageal reflux, High palate, Pyloric stenosis, Bifid uvula, Cleft palate, Ulcerative col...	OMIM:617137
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Pelizaeus-Merzbacher Disease	Cachexia, Failure to thrive in infancy, Bowel incontinence	ORPHA:702
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Poland Syndrome	Acute leukemia, Neoplasm of the breast, Abnormality of the liver, Retinal hamartoma	ORPHA:2911
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Osteosarcoma	Weight loss	ORPHA:668
Esophageal Atresia	Gastrointestinal carcinoma, Anorectal anomaly, Gastroesophageal reflux, Abnormal gastrointestinal...	ORPHA:1199
Rheumatoid Arthritis	Rheumatoid arthritis, Weight loss	OMIM:180300
Adrenocortical Carcinoma	Abdominal pain, Increased body weight, Lung adenocarcinoma, Weight loss, Adrenocortical carcinoma	ORPHA:1501
Silver-Russell Syndrome	Gastroesophageal reflux, Cachexia, Constipation, Obesity, Feeding difficulties, Failure to thrive...	ORPHA:813
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Erythema nodosum, Skin rash, Xerosto...	ORPHA:90340
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Infantile Krabbe Disease	Gastroesophageal reflux, Cachexia, Vomiting, Failure to thrive, Feeding difficulties, Nasogastric...	ORPHA:206436
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Myositis, Abdominal pain, Skin rash, Arthritis, Constipation, Perica...	ORPHA:93672
Rett Syndrome	Constipation, Cachexia, Gastroesophageal reflux	OMIM:312750
Short Syndrome	Poor appetite, Weight loss	ORPHA:3163
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98794
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Cystinosis, Nephropathic	Hepatomegaly, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Weight loss, Dy...	OMIM:219800
Amyotrophic Lateral Sclerosis	Cachexia, Dysphagia, Nausea and vomiting, Xerostomia, Tongue atrophy	ORPHA:803
African Trypanosomiasis	Myocarditis, Jaundice, Hepatomegaly, Lymphadenopathy, Iritis, Myelitis, Diarrhea, Optic neuritis,...	ORPHA:3385
19Q13.11 Microdeletion Syndrome	Cachexia, Failure to thrive, Feeding difficulties	ORPHA:217346
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Bardet-Biedl Syndrome	Childhood-onset truncal obesity, Aganglionic megacolon, Abnormality of the gastrointestinal tract...	ORPHA:110
Mowat-Wilson Syndrome	Aganglionic megacolon, Recurrent otitis media, Cleft hard palate, Decreased circulating antibody ...	ORPHA:2152
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
8P23.1 Microdeletion Syndrome	Obesity, High palate, Weight loss	ORPHA:251071
Juvenile Amyotrophic Lateral Sclerosis	Cachexia, Dysphagia, Gastrostomy tube feeding in infancy	ORPHA:300605
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Diarrhea, Small for gestational age, Weight loss	ORPHA:424
Perry Syndrome	Weight loss	OMIM:168605
Koolen-De Vries Syndrome	Abnormality of hair texture, Hypopigmentation of hair	ORPHA:96169
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Basal cell carcinoma, Cachexia, Skin rash, Squamous cell carcinoma of the skin, Melanoma	ORPHA:220295
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Gastroparesis, Dysphagia, Weight loss, Intestinal pseudo-obstruction	OMIM:607459
Choreoacanthocytosis	Hepatomegaly, Arthritis, Abnormal erythrocyte enzyme concentration or activity, Protruding tongue...	ORPHA:2388
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Poor suck, Failure to thrive, Nasogastric tube feeding in infancy, Lymphangioma, Recurrent pneumo...	ORPHA:99646
Sotos Syndrome	Chronic otitis media, Aganglionic megacolon, Small cell lung carcinoma, Gastroesophageal reflux, ...	ORPHA:821
Tropical Endomyocardial Fibrosis	Malnutrition, Hepatomegaly, Cachexia, Ascites, Splenomegaly, Cardiomegaly, Eosinophilia	ORPHA:75565
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Hereditary Late-Onset Parkinson Disease	Chronic constipation, Dysphagia, Weight loss	ORPHA:411602
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
X-Linked Intellectual Disability, Cabezas Type	Cachexia, Obesity, High palate	ORPHA:85293
Familial Gestational Hyperthyroidism	Diarrhea, Weight loss	ORPHA:99819
Autosomal Recessive Faciodigitogenital Syndrome	Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak	ORPHA:1974
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:398079
Congenital Fiber-Type Disproportion Myopathy	High palate, Aspiration pneumonia, Failure to thrive, Poor appetite, Dysphagia, Weight loss, Feed...	ORPHA:2020
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism	ORPHA:2719
Cockayne Syndrome	Hepatomegaly, Keratoconjunctivitis sicca, Gastroesophageal reflux, Malar rash, Cachexia, Splenome...	ORPHA:191
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Hyperpigmentation of the skin, Stellate iris, Hypopigmentation of the s...	ORPHA:177907
Xfe Progeroid Syndrome	Cachexia, Failure to thrive, Ascites	OMIM:610965
Proteus Syndrome	Enlarged kidney, Lipoma, Cachexia, Lymphangioma, Splenomegaly, Neoplasm, Thymus hyperplasia, Hama...	ORPHA:744
Trisomy 18	Narrow palate, Esophageal atresia, Cachexia, Anal atresia, Cleft palate	ORPHA:3380
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:398069
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98754
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Goodpasture Syndrome	Anemia, Weight loss, Glomerulonephritis	OMIM:233450
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:98793
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:177901
Thyrotoxic Periodic Paralysis	Constipation, Obesity, Weight loss	ORPHA:79102
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Oculopharyngodistal Myopathy 1	High palate, Dysphagia, Weight loss	OMIM:164310
Prader-Willi Syndrome	Hypopigmentation of the skin, Hypopigmentation of hair	ORPHA:739
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Pancreatic hypoplasia, Reduced pancreatic beta cells, Weight loss	ORPHA:99885
Schwartz-Jampel Syndrome	Cachexia, High palate, Decreased body weight, Cleft palate, Feeding difficulties in infancy, Odon...	ORPHA:800
Degcags Syndrome	Premature graying of hair, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmentatio...	OMIM:619488
Pulmonary Alveolar Microlithiasis	Bronchiectasis, Hepatomegaly, Weight loss	ORPHA:60025
Menkes Disease	Woolly hair, Hypopigmentation of hair, Sparse hair	ORPHA:565
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Anorexia, Cachexia, Short hard palate	ORPHA:1969
Tsh-Secreting Pituitary Adenoma	Nausea and vomiting, Vomiting, Weight loss	ORPHA:91347
Stickler Syndrome	Chronic otitis media, Gastroesophageal reflux, Short hard palate, Cachexia, Glossoptosis, Slender...	ORPHA:828
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Vomiting, Failure to thrive, Feeding difficulties, Weight loss, Acne, Testicular adrenal rest tumor	ORPHA:90794
Smith-Lemli-Opitz Syndrome	Abnormal eyelash morphology, Hypopigmentation of hair	ORPHA:818
Seckel Syndrome	Cachexia	ORPHA:808
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, High palate, Ankyloglossia, Osteoarthritis, Weight loss	ORPHA:740
Marfan Syndrome	High, narrow palate, Cachexia, Slender build, Cleft palate, Arthralgia/arthritis	ORPHA:558
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Norrie Disease	Cachexia, Failure to thrive, Neoplasm of the eye, Vascular neoplasm	ORPHA:649
Singleton-Merten Syndrome 2		OMIM:616298

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 Rigi

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rigi.

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

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MGI Allele	Allele Type	Produced
Rigi^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Rigi^em1(IMPC)J	Exon Deletion	Mice
Rigi^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Rigi MGI:2442858

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Eye Morphology

Auditory Brain Stem Response

Human diseases caused by Rigi mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data