Registered for phenotyping at IMPC

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

Gene Summary

diaphanous related formin 1
Drf1,  D18Wsu154e,  Diap1,  mDia1,  Dia1,  p140mDia

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Diaph1 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.

The table below shows human diseases associated to Diaph1 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Seizures, Cortical Blindness, And Microcephaly Syndrome
Short stature, Growth delay OMIM:616632
Moyamoya Disease

The table below shows human diseases predicted to be associated to Diaph1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Recurrent respiratory infec... OMIM:615615
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... OMIM:615897
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 79
Recurrent otitis media, Recurrent upper respiratory tract infections, Decreased proportion of CD4... OMIM:619238
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Reduced natural killer cell activity, Decreased... OMIM:614493
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Lymphopenia, Abnormal T cell morphology, Decreased circulating I... OMIM:247630
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of memory B cells, Cutaneous abscess, Decreased prop... OMIM:618204
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia,... OMIM:613500
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections, Abs... OMIM:608957
Immunodeficiency 17
Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent respiratory infections, Recurrent ... OMIM:615607
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Recurrent infections, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 40
Lymphopenia OMIM:616433
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Eczema, Refractory ... OMIM:616871
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Recurrent infections, Increased circulating IgG level, Hepatosplenomegaly... OMIM:618982
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Recurrent infections, Decreased specific antibody response to po... OMIM:616452
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Recurrent respiratory infections, Recurrent ur... OMIM:300988
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Recurrent skin infections, Splenomegaly, Hepatomegaly, Anemia, ... OMIM:612840
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Decreased circ... OMIM:609529
Kerion Celsi
Recurrent skin infections, Lymphadenopathy, Inflammatory abnormality of the skin, Alopecia, Recur... ORPHA:499
Reticular Dysgenesis
Leukopenia, Abnormality of neutrophils, Anemia, Chronic otitis media, Aplasia/Hypoplasia of the t... ORPHA:33355
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Recurrent otitis media,... OMIM:613493
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Hepatomegaly, Eczema, Oral ulcer, Lymphadenopathy, Ot... OMIM:608971
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent otitis media, Recurre... OMIM:613502
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia, Transient n... OMIM:619707
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent otitis media, Recurre... OMIM:618944
Omenn Syndrome
Eosinophilia, Pneumonia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Erythroder... OMIM:603554
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Pruritus, Leukocytosis, Pneumonia, Aplasia/Hypoplas... ORPHA:39041
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia OMIM:615214
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Enlarged tonsils ORPHA:168621
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Recu... OMIM:606843
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia, Recurrent infections, Agammaglobulinemia OMIM:616941
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Recurrent infections, Histiocytosis OMIM:235900
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent otitis media, Recurre... OMIM:612692
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:611926
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Immunodeficiency 14B, Autosomal Recessive
Recurrent pneumonia, Leukocytosis, Monocytosis, Thrombocytosis, Colitis, Neutrophilia, Inflammati... OMIM:619281
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Recurrent pneumonia, Increased circulating IgG level, Complete o... OMIM:610163
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Maculopapular exanthema, ... OMIM:619644
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Ede... OMIM:603552
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Abnormality of the nail, Pruritus, Splenomegaly, Hepatomegaly, Ec... ORPHA:2584
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Hepatomegaly, Growth delay, Anemia, Lymphadenopathy, Alopecia ORPHA:100025
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, H... ORPHA:444463
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Hypopl... OMIM:267500
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal antibody leve... OMIM:615513
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Onychomycosis, Deep dermatophytosis, Meningitis, Chronic tinea infection, Chro... OMIM:212050
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Decreased circulating antibody level, Anemia, B lymphocytope... ORPHA:169079
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Hypoplastic toenails, Alopecia, Anemia, Toenail dyspla... ORPHA:2325
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... ORPHA:277
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Immunodeficiency 8
Lymphopenia OMIM:615401
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:169154
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Pruritus, Recurrent skin infections, High palate, Micrognat... OMIM:618282
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:300400
Sézary Syndrome
Abnormal lymphocyte morphology, Pruritus, Splenomegaly, Hepatomegaly, Nail dystrophy, Erythroderm... ORPHA:3162
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Histiocytosis, Skin rash ORPHA:157997
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Immunodeficiency 55
Recurrent skin infections, Intrauterine growth retardation, Neutropenia, Eczema, Short stature, L... OMIM:617827
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Dehydration, Thrombocytopenia ORPHA:79312
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Portal hypertension, Thrombocytosis, Splenomegaly... ORPHA:824
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Hepatosplenomegaly, Carious teeth, Anemia, Osteomyelitis, Mandibular osteomyelitis,... OMIM:259710
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Intrauterine growth retardation ORPHA:2802
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Recurrent skin infections, Pneumonia, Periodontitis, Acute m... ORPHA:486
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Recurrent bronchitis,... OMIM:613501
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Colitis, Splenomegaly, Growth delay, Lymphadenopathy, B l... OMIM:619164
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, ... OMIM:304790
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Patchy alopecia, T lymphocytopenia, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulat... OMIM:606367
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Leukemia, Impaired lymphocy... OMIM:153600
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Leukopenia, Monocytosis, Splenomegaly, Hepatomegaly, Growth delay, Neutropenia, Anem... OMIM:612541
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... ORPHA:859
Hereditary Spherocytosis
Cholelithiasis, Maculopapular exanthema, Increased mean corpuscular hemoglobin concentration, Spl... ORPHA:822
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Recurrent viral infections, Onychomycosis, Recurrent respiratory infections, R... ORPHA:217390
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:618495
Immunodeficiency, Common Variable, 7
Recurrent infections, Decreased specific pneumococcal antibody level, Decreased circulating total... OMIM:614699
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM, Recurrent bronchopulmonary infections OMIM:610798
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune th... OMIM:615559
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Adult Idiopathic Neutropenia
Monocytosis, Recurrent aphthous stomatitis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Immunodeficiency 35
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent fungal infections, Recu... OMIM:611521
Immunodeficiency 37
Infectious encephalitis, Recurrent infections, Decreased proportion of central memory CD4-positiv... OMIM:616098
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 75
Hepatosplenomegaly, Bronchiectasis, Follicular hyperplasia, Lymphadenopathy, Decreased proportion... OMIM:619126
Intermediate Osteopetrosis
Hepatosplenomegaly, Osteosclerosis of the base of the skull, Anemia, Abnormality of dental morpho... ORPHA:210110
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Neutropenia, Anemia, Recurrent pneumonia, Splenomegaly OMIM:602079
Immunodeficiency 19
Recurrent otitis media, Lymphopenia OMIM:615617
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Recurrent respiratory infections, Increase... OMIM:615767
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia, Skin rash OMIM:618963
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Uveitis, Growth delay, Anemia, Lymphedema, Lympha... OMIM:607115
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse eyebrow, Microdontia, Sparse body hair, Abnormality of dental morpho... ORPHA:2722
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Persistent CMV viremia, Recurrent viral infe... OMIM:300853
Schnitzler Syndrome
Pruritus, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Arthritis, Skin rash ORPHA:37748
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis OMIM:619398
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Lymphoproliferative Syndrome 3
Recurrent infections, Hepatosplenomegaly, Decreased circulating antibody level, Severe varicella ... OMIM:618261
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Leukopenia, Hepatomegaly, Anemia, Pancreatitis, Dehydration, Thrombocytopenia ORPHA:27
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Growth delay, Osteomyelitis, Joint swelling, Erythroid hyp... OMIM:609628
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cel... ORPHA:169160
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, BCGitis, Increased circulating IgM level OMIM:619549
Vitamin B12-Responsive Methylmalonic Acidemia
Dehydration, Anemia, Hepatomegaly ORPHA:28
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased circulating total IgM, Recurrent otitis media, Increased circulating IgG ... OMIM:243700
Hyperlysinemia, Type I
Anemia OMIM:238700
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Erythema nodosum, Splenomegaly, Recurrent aphthous stomatitis, Lymphadenopathy, Art... OMIM:611762
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Hepatomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy OMIM:618852
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Pneumonia, Erythema nodosum, Cutaneous ... ORPHA:3392
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating spl... OMIM:619220
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Autosomal Agammaglobulinemia
Sinusitis, High palate, Recurrent skin infections, Arthritis, Bronchiectasis, Neutropenia, Osteom... ORPHA:33110
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent otitis media, Recurre... OMIM:607594
Open bite, Craniofacial hyperostosis, Widely spaced teeth, Splenomegaly, Hepatomegaly, Macrogloss... ORPHA:61
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenitis, Crohn's disease, Sple... OMIM:618935
Fanconi Anemia, Complementation Group S
Dental malocclusion, Long eyelashes, Thick upper lip vermilion, Anemia, Short stature, Low anteri... OMIM:617883
Diffuse Cutaneous Mastocytosis
Abnormality of the liver, Pruritus, Myeloproliferative disorder, Hepatomegaly, Erythroderma, Lymp... ORPHA:79456
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Absent axillary hair, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Holoprosencephaly, Recurrent Infections, And Monocytosis
Recurrent skin infections, Monocytosis OMIM:610680
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Arthritis, Thrombocytopenia, Neutropenia, Anemia, Osteomyelitis, ... ORPHA:47
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Pneumonia, Thrombocytosis, Increased inflammator... OMIM:209950
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Bronchi... OMIM:150550
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Colitis, Splenomegaly, Anemia, Recurrent sinusitis, Lymphad... OMIM:613101
Anemia, Congenital Dyserythropoietic, Type Ib
Small nail, Splenomegaly, Anisocytosis, Jaundice, Hepatomegaly, Growth delay, Anemia, Short statu... OMIM:615631
Immunodeficiency 67
Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococcal infections, L... OMIM:607676
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Recurrent ... OMIM:613494
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Recurrent otitis media, Leukopenia, Hepatosplenomegaly, Impaired... OMIM:618986
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating IgA level,... OMIM:605258
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Cirrhosis, Splenomega... ORPHA:231222
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Isovaleric Acidemia
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Dehydration, Thrombocytopenia OMIM:243500
Dominant Beta-Thalassemia
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro... ORPHA:231226
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Angioedema, Infectious encephalitis, Enanthema, Interstitial pneumonitis, Myocardit... ORPHA:139402
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating total IgG, Decreased proportion of CD4-pos... OMIM:618969
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Abnormal immunoglo... ORPHA:276
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Decreased eosinophil count, Peritonitis, Periodontitis, Thr... ORPHA:2686
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Splenomegaly, Hepatomegaly, Growth delay, Micrognathia, Anemia, Hypoc... OMIM:259720
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Infectious encephalitis, Maculopapular exanthema, Colitis, Splenomegaly, Hepato... ORPHA:540
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Anisopoikilocytosis, Persistence of hemoglob... ORPHA:231214
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Pruritus, Maculopapular exanthema, Splenomegaly, Hep... ORPHA:98848
Cronkhite-Canada Syndrome
Patchy alopecia, Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Dystrophic toenail, Spl... ORPHA:2930
Letterer-Siwe Disease
Hepatosplenomegaly, Jaundice, Neutropenia, Anemia, Seborrheic dermatitis, Stomatitis, Thrombocyto... OMIM:246400
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Netherton Syndrome
Brittle hair, Hypereosinophilia, Angioedema, Sparse eyebrow, Erythroderma, Allergic rhinitis, Hyp... OMIM:256500
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of memory B cells, Decreased proportion of CD4-positive h... OMIM:619510
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Hepatomegaly, Growth delay, Anemia, Decreased mean corpuscular volu... OMIM:615234
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Sinusitis, Recurrent cutaneous abscess formation, Pneumonia, Infl... ORPHA:229717
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Hydrops fetalis, Mild postnatal growth retardation, Splenomegaly, Anisocytosis, P... OMIM:224120
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Eosinophilia, Hepatosplenomegaly, Lymphadenitis, Pneumonia, ... ORPHA:911
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Osteopetrosis, Autosomal Recessive 3
Hepatosplenomegaly, Anemia, Short stature, Dental malocclusion, Extramedullary hematopoiesis OMIM:259730
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Dec... ORPHA:331206
Fgfr2-Related Bent Bone Dysplasia
Hepatosplenomegaly, Micrognathia, Natal tooth, Hirsutism, Gingival overgrowth, Extramedullary hem... ORPHA:313855
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, B lymphocytopenia, Perianal abscess, Par... OMIM:618108
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Abnormality of the liver, Hypochromia OMIM:206100
Zimmermann-Laband Syndrome
High palate, Bifid uvula, Long eyelashes, Absent fingernail, Thick eyebrow, Gingival fibromatosis... ORPHA:3473
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Immunodeficiency 7
Hypereosinophilia, Lymphadenopathy OMIM:615387
Propionic Acidemia
Pancytopenia, Hepatomegaly, Neutropenia, Anemia, Eczema, Short stature, Pancreatitis, Dehydration... OMIM:606054
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Intermediate Generalized Junctional Epidermolysis Bullosa
Oral mucosal blisters, Enamel hypoplasia, Scarring alopecia of scalp, Anonychia, Sparse body hair... ORPHA:79402
Neutropenia, Chronic Familial
Neutropenia, Periodontitis, Premature loss of teeth, Gingivitis OMIM:162700
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Short stature, Bone-marrow foam cells, Thrombocytopenia, Sea-... OMIM:607616
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Immunodeficiency 48
Eczematoid dermatitis, Splenomegaly, Hepatomegaly, Pneumonia OMIM:269840
Microcytic anemia, Cholelithiasis, Hydrops fetalis, Splenomegaly, Jaundice, Anemia, Hemolytic ane... ORPHA:846
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia, Hypopigmentation of hair, Short stature ORPHA:90023
Immunodeficiency, Common Variable, 13
Pancytopenia, Recurrent bacterial infections, Decreased circulating antibody level, B lymphocytop... OMIM:616873
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Abnormal oral mucosa morphology, Spleno... ORPHA:507
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Recurrent infections, Impaired neutrophil chemotax... OMIM:619374
Griscelli Syndrome
Premature graying of hair, Leukopenia, Bone marrow hypocellularity, Abnormal eyelash morphology, ... ORPHA:381
Lymphoproliferative Syndrome 2
Pancytopenia, Recurrent pneumonia, Hepatosplenomegaly, Uveitis, Hemophagocytosis, Splenomegaly, H... OMIM:615122
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Recurrent skin infections, Erythema nodosum, Hemophagocytosis, Colitis, Splenomegal... OMIM:300635
Roifman Syndrome
Eosinophilia, Prominent eyelashes, Recurrent otitis media, Recurrent pneumonia, Intrauterine grow... OMIM:616651
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent otitis media, Recurrent skin infections, Pneumon... OMIM:613953
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific antibody response to protein-conjugate... ORPHA:70593
Roifman Syndrome
Eosinophilia, Prominent eyelashes, Recurrent otitis media, Hepatosplenomegaly, Recurrent pneumoni... ORPHA:353298
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:205950
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, Splenomegaly, ... OMIM:619375
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... OMIM:618534
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis, Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prol... ORPHA:766
Congenital Atransferrinemia
Anemia, Abnormality of the pancreas, Arthritis ORPHA:1195
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Pruritus, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Recurrent ... OMIM:619752
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia, Recurrent otitis media, Short stature OMIM:616022
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Pruritus, Cutaneous mastocytosis ORPHA:280785
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Recurrent viral in... ORPHA:275
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections,... OMIM:608106
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Abnormality of the gingiva, Anemia, Thrombocytopenia ORPHA:517
Pediatric Systemic Lupus Erythematosus
Myositis, Leukopenia, Ascites, Pleural effusion, Oral ulcer, Malar rash, Lymphopenia, Lymphadenop... ORPHA:93552
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, Bronchiectasis, Recu... OMIM:616576
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Anemia, Splenomegaly ORPHA:1802
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia, Abnormality of the mouth OMIM:162800
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Skin rash OMIM:619175
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Immunodeficiency 13
T lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... OMIM:615518
Candidiasis, Familial, 1
Chronic mucocutaneous candidiasis, Premature loss of teeth, Alopecia OMIM:114580
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Alopecia, Sparse pubic hair, Sparse axillary hair, Sparse scalp hair ORPHA:505
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Tubulointerstitial nephritis, Hepatomegaly, Pancreatitis, Dehydration, Thrombocytopenia OMIM:251000
Rubinstein-Taybi Syndrome 2
High palate, Narrow palate, Long eyelashes, Carious teeth, Micrognathia, Increased overbite, Retr... OMIM:613684
Dyskeratosis Congenita, Autosomal Dominant 1
Premature graying of hair, Oral leukoplakia, Bone marrow hypocellularity, Interstitial pneumoniti... OMIM:127550
Diamond-Blackfan Anemia 9
Anemia, Webbed neck, Growth delay OMIM:613308
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Abnormal palate morphology, Autoimmune hemolytic anemia, Autoimmu... ORPHA:100026
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Sterile abscess, Hepatosplenomegaly, Sterile arthritis, Thromboc... OMIM:604416
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Decreased proportion of CD4-positive helpe... ORPHA:543
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Absent natural killer cells, Abnormality of B cell physiology, Impaired lympho... OMIM:600802
Fetal Parvovirus Syndrome
Intrauterine growth retardation, Hydrops fetalis, Anemia, Increased nuchal translucency, Ascites,... ORPHA:295
Proteasome-Associated Autoinflammatory Syndrome 2
Periorbital edema, Thrombocytopenia, Lymphadenopathy, Skin rash OMIM:618048
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Pruritus, Splenomegaly, Lymphadenopathy ORPHA:86893
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Portal h... ORPHA:98850
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Short stature, Thrombocytopenia ORPHA:3319
Congenital Toxoplasmosis
Intrauterine growth retardation, Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Ascites, Cardio... ORPHA:858
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Short stature, Polyhydramnios OMIM:618541
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia ORPHA:318
Hypotrichosis 4
Pili torti, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Alopecia, Sparse hair OMIM:146550
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Narrow mouth, Thin vermilion border, Splenomegaly, Micrognathia, Anemia, Polyhydramnios, Ascites,... ORPHA:1046
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Immunodeficiency 31C
Autoimmune hemolytic anemia, Growth delay, Eczema, Short stature, Delayed puberty, Lymphopenia, C... OMIM:614162
Copper Deficiency, Familial Benign
Curly hair, Early balding, Seborrheic dermatitis, Anemia OMIM:121270
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Neutrophilia, Anemia, Liver abscess, Abnormality of the lymph nodes,... ORPHA:54251
Mulibrey Nanism
Hypoplastic frontal sinuses, Intrauterine growth retardation, Enamel hypoplasia, Hydrops fetalis,... OMIM:253250
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatome... OMIM:616100
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Hypotrichosis Simplex
Sparse eyebrow, Sparse body hair, Alopecia, Sparse eyelashes, Sparse scalp hair, Sparse hair ORPHA:55654
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... ORPHA:83451
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Punctate keratitis, Enamel hypoplasia, Scarring alopecia of scalp, Nail dysplasia, Carious teeth,... OMIM:226670
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Hemifacial Atrophy, Progressive
Tongue atrophy, Patchy alopecia, Delayed eruption of teeth, Poliosis, Dental malocclusion, Short ... OMIM:141300
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Fanconi Anemia, Complementation Group G
Leukemia, Growth delay, Neutropenia, Anemia, Thrombocytopenia OMIM:614082
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Perifolliculitis, Alopecia OMIM:260910
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Severe Epstein Barr virus infection, Reduced natur... OMIM:308240
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Hepatospleno... ORPHA:35078
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Cinca Syndrome
Leukocytosis, Uveitis, Inflammatory abnormality of the eye, Splenomegaly, Hepatomegaly, Growth de... ORPHA:1451
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Immunodeficiency 54
Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Short stature, Lymphadenopathy, Post... OMIM:609981
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, ... OMIM:608184
Mixed Connective Tissue Disease
Myositis, Leukopenia, Arthritis, Gastritis, Splenomegaly, Hepatomegaly, Myocarditis, Keratoconjun... ORPHA:809
Griscelli Syndrome Type 2
Premature graying of hair, Pancytopenia, Hypopigmentation of hair, Hemophagocytosis, Splenomegaly... ORPHA:79477
Hemoglobin E Disease
Intrauterine growth retardation, Splenomegaly, Increased red blood cell count, Abnormal hemoglobi... ORPHA:2133
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, Sparse eyebrow, High, narrow palate, Nail dystrophy, Sparse hair, Tiger tail... OMIM:619692
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Abnormality of the liver, Hepatomegaly, Jaundice, Growth delay... ORPHA:1667
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Long eyelashes, Pustule, Dehydration, Edema OMIM:616069
Alopecia Areata 1
Patchy alopecia, Trachyonychia, Nail pits, Alopecia universalis, Alopecia totalis OMIM:104000
Alopecia Areata 2
Patchy alopecia, Alopecia of scalp, Alopecia totalis, Alopecia universalis OMIM:610753
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Normochromic anem... ORPHA:98826
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Abnormal hair morphology, Pedal edema, Edema, Lymphopenia OMIM:152800
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, T lymphocytopenia, Hepatic steatosis, Bifid uvula, Hypodontia, Micrognathia, S... ORPHA:2959
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Periodontitis, Alopecia universalis, Congenital alopecia totalis OMIM:104130
Arthritis, Abnormal hair pattern, Splenomegaly, Hepatomegaly, Acne, Anemia, Osteomyelitis, Eczema... ORPHA:2796
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia universalis, Sparse scalp ... ORPHA:1008
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Recurrent pneumonia, Recurrent Staphylococcus aureus infections, Cutaneous abscess,... OMIM:147060
Auriculocondylar Syndrome 2
Narrow mouth, Micrognathia, Dental crowding, Glossoptosis, Mandibular condyle hypoplasia, Mandibu... OMIM:614669
Immunodeficiency 46
Intermittent thrombocytopenia, Decreased circulating antibody level, Meningitis, Neutropenia, Ane... OMIM:616740
Methylmalonic Aciduria, Cblb Type
Pancytopenia, Hepatomegaly, Neutropenia, Anemia, Dehydration, Thrombocytopenia OMIM:251110
Bone Marrow Failure Syndrome 4
Leukopenia, Bone marrow hypocellularity, Rhizomelia, Eczema, Anemia, Short stature, Thrombocytopenia OMIM:618116
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Immunodeficiency 92
Recurrent oral herpes, Decreased circulating IgG level, Leukocytosis, Persistent CMV viremia, Thr... OMIM:619652
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Carious teeth, Splenomegaly, Hepatomegaly, Jaundice, Anemia, A... OMIM:612714
Bleeding Disorder, Platelet-Type, 21
Eczema, Thrombocytopenia, Psoriasiform dermatitis, Alopecia OMIM:617443
Follicular Lymphoma
Splenomegaly, Pleural effusion, Lymphedema, Lymphadenopathy, Abnormality of the peritoneum, Media... ORPHA:545
Hypotrichosis 5
Absent pubic hair, Thin eyebrow, Sparse eyelashes, Alopecia, Absent axillary hair OMIM:612841
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Malar flattening, Short stature, Widely spaced teeth, Dental malocclusion OMIM:616108
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Cholestasis, Thrombocytosis... ORPHA:232
Felty Syndrome
Abnormal lymphocyte morphology, Recurrent pneumonia, Sinusitis, Bone marrow hypocellularity, Sple... ORPHA:47612
Parc Syndrome
Absent eyelashes, Absent eyebrow, Microretrognathia, Alopecia, Cleft palate OMIM:600331
Specific Granule Deficiency 2
Amelogenesis imperfecta, Recurrent otitis media, Recurrent pneumonia, Conical tooth, Nail dysplas... OMIM:617475
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Prolonged neonatal ... ORPHA:79303
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Thrombocytopenia, Hemolytic anemia, Oral ulcer, Anterior uveitis, Lymphopenia, Skin rash OMIM:616744
Mental Retardation, Buenos Aires Type
Fair hair, Intrahepatic biliary atresia, High palate, Long eyelashes, Carious teeth, Curly eyelas... OMIM:249630
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Chilblains, Thrombocytopenia OMIM:610329
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Hepatomegaly, Neutropenia, Anemia, Dehydration, Thrombocytopenia OMIM:251100
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Severe infection, Recurrent urinary tract infection... ORPHA:331235
Primary Condylar Hyperplasia
Macrodontia, Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Abno... ORPHA:477781
Hodgkin Lymphoma
Hepatomegaly, Pruritus, Splenomegaly, Lymphadenopathy ORPHA:98293
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Arthritis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Anemia, Periorbital... OMIM:617591
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Thumb Deformity And Alopecia
Short stature, Solitary median maxillary central incisor, Alopecia OMIM:188150
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial... OMIM:240500
Noonan Syndrome 4
Webbed neck, Sparse eyebrow, Polyhydramnios, Short stature, Wide mouth, High anterior hairline, C... OMIM:610733
Adult-Onset Still Disease
Pruritus, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenomegaly, Generalized lymp... ORPHA:829
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Decreased circulating total IgM, Reduced red cell adenosine deaminase level, Recurr... OMIM:102700
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Septic arthritis, Eczema... OMIM:617780
Hb Bart'S Hydrops Fetalis
Hydrops fetalis, Splenomegaly, Hepatomegaly, Anemia, Polyhydramnios, Pericarditis, Abnormal hemog... ORPHA:163596
Leukocytosis, Uveitis, Cholestasis, Ulcerative colitis, Arthritis, Peritonitis, Pneumonia, Myocar... ORPHA:810
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, R... ORPHA:572
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Pancytopenia, Everted lower lip vermilion, Thick lower lip vermilion, Micrognathia, Short stature... ORPHA:85321
Heme Oxygenase 1 Deficiency
Thrombocytosis, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hepatomegaly, Growth ... OMIM:614034
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Portal hypertension, Cholestasis, Oligodontia, Scarring alopecia of scalp, Sparse eyebrow, Spleno... ORPHA:59303
Cerebellar Ataxia And Ectodermal Dysplasia
Sparse hair, Agenesis of permanent teeth, Alopecia OMIM:212835
Kikuchi-Fujimoto Disease
Anemia, Malar rash, Lymphocytosis, Thrombocytopenia, Skin rash, Leukopenia, Myocarditis, Cervical... ORPHA:50918
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Abnormality of ne... ORPHA:2585
Pfapa Syndrome
Infectious encephalitis, Splenomegaly, Hepatomegaly, Abnormal oral cavity morphology, Lymphadenop... ORPHA:42642
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Mcdonough Syndrome
Short philtrum, Abnormal palate morphology, Open bite, Micrognathia, Short stature, Mandibular pr... ORPHA:2471
Lamellar Ichthyosis
Abnormality of the nail, Pruritus, Aplasia/Hypoplasia of the eyebrow, Everted lower lip vermilion... ORPHA:313
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Thrombocytopenia, Seborrheic dermatitis, Absent circulating B cells OMIM:619693
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Recurrent infections, Decreased circulating IgA level, Recurren... OMIM:137100
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... OMIM:193670
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Portal fibrosis, Inflammatory abnormality of the skin, Pa... ORPHA:3260
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased circulating total IgM, Decreased proportion of ... OMIM:618394
Chediak-Higashi Syndrome
Hypopigmentation of hair, Leukopenia, Giant neutrophil granules, Hemophagocytosis, Periodontitis,... OMIM:214500
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia, Arthritis ORPHA:2582
High palate, Abnormality of the nail, Hepatosplenomegaly, Intrauterine growth retardation, Enamel... ORPHA:763
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Hypotrichosis 11
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Alopecia universalis, Absent axill... OMIM:615059
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Bone marrow hypocellularity, Neutropenia, Anemia, Recurren... OMIM:618849
Alopecia Universalis
Absent eyelashes, Alopecia universalis, Patchy alopecia, Absent eyebrow ORPHA:701
Majeed Syndrome
Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Hepatomegaly, Acne, Osteomyelitis, Syn... ORPHA:77297
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nephropathy, Hepatitis, Inflammat... ORPHA:37042
Macrophage Activation Syndrome
Hemophagocytosis, Increased inflammatory response, Splenomegaly, Abnormal natural killer cell cou... ORPHA:158061
Sting-Associated Vasculopathy, Infantile-Onset
Paratracheal lymphadenopathy, Leukopenia, Myositis, Thrombocytosis, Periungual erythema, Nailfold... OMIM:615934
Congenital Disorder Of Glycosylation, Type Iic
Widow's peak, Reduction of neutrophil motility, Recurrent otitis media, Pneumonia, Periodontitis,... OMIM:266265
Anemia ORPHA:655
Hamamy Syndrome
Microcytic anemia, Webbed neck, Hypochromic anemia, High palate, Long philtrum, Sparse lateral ey... OMIM:611174
Juvenile Temporal Arteritis
Eosinophilia, Allergic rhinitis, Leukocytosis, Conjunctivitis ORPHA:26137
Seckel Syndrome 1
Pancytopenia, High palate, Intrauterine growth retardation, Enamel hypoplasia, Micrognathia, Sele... OMIM:210600
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Short stature, Asplenia ORPHA:3204
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia OMIM:153550
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Recurrent otitis media, Uveitis, Chronic neutropenia, Autoimmune hemolytic anemia, ... OMIM:614700
Mitochondrial Myopathy And Sideroblastic Anemia
High palate, Long philtrum, Micrognathia, Anemia, Distichiasis, Delayed puberty ORPHA:2598
Sea-Blue Histiocytosis
Blepharitis, Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Edema, Thrombocytopenia, Se... ORPHA:158029
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
H Syndrome
Microcytic anemia, Upper eyelid edema, Enlarged kidney, Hypertrichosis, Hepatosplenomegaly, Histi... ORPHA:168569
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Pleural effusion, Lymphadenopathy, Pericarditis, Anterior uveitis, Jo... ORPHA:85414
Poikiloderma With Neutropenia
Recurrent otitis media, Blepharitis, Leukopenia, Recurrent pneumonia, Long philtrum, Sparse later... OMIM:604173
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Fanconi Anemia, Complementation Group T
Pancytopenia, Bone marrow hypocellularity, Anemia, Short stature, Thrombocytopenia OMIM:616435
Immunodeficiency 10
Amelogenesis imperfecta, Autoimmune hemolytic anemia, Nail dysplasia, Lymphadenopathy, Thrombocyt... OMIM:612783
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Splenomegaly, Anemia, Panniculitis, Facial edema OMIM:618398
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma, Acanthocytosis OMIM:604777
Cardiofaciocutaneous Syndrome 1
Webbed neck, High palate, Dental malocclusion, Open bite, Abnormality of the dentition, Absent ey... OMIM:115150
Fibrodysplasia Ossificans Progressiva
Anemia, Alopecia ORPHA:337
Diamond-Blackfan Anemia 8
Thick upper lip vermilion, Growth delay, Neutropenia, Short stature, Increased mean corpuscular v... OMIM:612563
Combined Oxidative Phosphorylation Deficiency 47
Dehydration, Intrauterine growth retardation, Hepatomegaly, Long philtrum OMIM:618958
Monosomy 22
High palate, Hepatosplenomegaly, Long philtrum, Open mouth, Joint swelling, Synophrys, Seborrheic... ORPHA:96123
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Short stature, Enterocolitis, Thrombocytopenia, Reduced natur... OMIM:616050
Hydrops Fetalis, Nonimmune
Anemia, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenomegaly, Hepato... OMIM:263200
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Immunodeficiency 49
Eosinophilia, Short philtrum, Micrognathia, Natal tooth, Inflammatory abnormality of the skin, Hi... OMIM:617237
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology OMIM:612529
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Dyskeratosis Congenita, Autosomal Dominant 3
Premature graying of hair, Pancytopenia, Oral leukoplakia, Leukopenia, Bone marrow hypocellularit... OMIM:613990
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Anemia, Premature loss of teeth, Gingivitis OMIM:618107
Pearson Marrow-Pancreas Syndrome
Pancytopenia, Exocrine pancreatic insufficiency, Refractory sideroblastic anemia, Sideroblastic a... OMIM:557000
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Psoriasis 14, Pustular
Leukocytosis, Cholangitis, Neutrophilia, Nail dystrophy, Oligoarthritis, Furrowed tongue, Psorias... OMIM:614204
Netherton Syndrome
Abnormal hair morphology, Sparse eyebrow, Fine hair, Trichorrhexis nodosa, Eczema, Erythroderma, ... ORPHA:634
Intellectual Developmental Disorder, X-Linked 58
Small nail, Short philtrum, Dental malocclusion OMIM:300210
Immunodeficiency 89 And Autoimmunity
Increased circulating IgG level, Decreased eosinophil count, Increased circulating IgA level, Rec... OMIM:619632
Ectodermal Dysplasia 6, Hair/Nail Type
Sparse hair, Dystrophic toenail, Thin toenail, Alopecia OMIM:614928
Pancytopenia, Pneumonia, Delayed eruption of teeth, Autoimmune thrombocytopenia, Autoimmune hemol... ORPHA:1855
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Growth delay, Anemia, Reticulocytosis, Thrombocyt... OMIM:611490
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia, Neutropenia... OMIM:619705
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Disproportionate short stature, Erythroderma, Lymphopenia, Hepatic cysts OMIM:617425
Hidrotic Ectodermal Dysplasia
Small nail, Hypopigmentation of hair, Absent pubic hair, Slow-growing nails, Sparse eyebrow, Anon... ORPHA:189
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Leukocytosis, Cervical lymphadenopathy, Anemia, Periorbital edema, Acute mono... ORPHA:514
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Pneumonia, Splenomegaly, Hepatomegaly, Hypocalcification of dental ename... ORPHA:169090
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Cirrhosis, Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Elevat... OMIM:616860
Wiskott-Aldrich Syndrome
Recurrent otitis media, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper ... OMIM:301000
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Trichorhinophalangeal Syndrome, Type I
Dental malocclusion, Long philtrum, Delayed eruption of teeth, Sparse lateral eyebrow, Thin eyebr... OMIM:190350
Blepharophimosis-Impaired Intellectual Development Syndrome
Short philtrum, Recurrent pneumonia, Drooling, Long eyelashes, Enamel hypoplasia, Thick eyebrow, ... OMIM:619293
Takenouchi-Kosaki Syndrome
Webbed neck, Short philtrum, Long philtrum, Downturned corners of mouth, Sparse eyebrow, Widely s... OMIM:616737
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Recurrent respiratory infections, Increased circulating IgE... OMIM:618523
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:443811
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia, Alopecia of scalp OMIM:617294
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Abnormality of the pancreas, Intrauterine growth retardation, ... ORPHA:2315
Gaucher Disease, Type Ii
Trismus, Splenomegaly, Thrombocytopenia, Hepatomegaly, Anemia, Recurrent aspiration pneumonia OMIM:230900
Gilbert Syndrome
Dehydration, Jaundice OMIM:143500
Camptodactyly Syndrome, Guadalajara Type 1
Narrow mouth, High palate, Intrauterine growth retardation, Open bite, Abnormality of dental erup... ORPHA:1327
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Panniculitis, Lymphadenopathy,... OMIM:619183
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Webbed neck, Short philtrum, Long philtrum, Downturned corners of mouth, Sparse eyebrow, Widely s... ORPHA:487796
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Short stature, Nonspher... OMIM:611881
Holocarboxylase Synthetase Deficiency
Alopecia, Growth delay, Eczema, Keratoconjunctivitis, Perioral eczema, Thrombocytopenia ORPHA:79242
Familial Benign Copper Deficiency
Early balding, Deep philtrum, Acne, Anemia, Short stature ORPHA:1551
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, H... OMIM:308230
Rothmund-Thomson Syndrome
Abnormality of the nail, Nail dysplasia, Microdontia, Anemia, Malar rash, Aplastic anemia, Skin r... ORPHA:2909
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Abnormality of the dentition, Cleft soft palate, Micrognathia, Short stature, Dent... OMIM:616331
Cholangitis, Decreased proportion of CD4-positive helper T cells, Prostatitis, Hepatitis, Pancrea... ORPHA:2552
Intellectual Developmental Disorder, Autosomal Recessive 39
Short stature, Dental malocclusion, Synophrys OMIM:615541
Hemochromatosis, Type 3
Neutropenia, Anemia, Cirrhosis, Lymphopenia, Arthritis OMIM:604250
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Cerebellofaciodental Syndrome
Dental malocclusion, Sparse eyebrow, Fine hair, Short stature, Sparse hair, Taurodontia, Macrodon... OMIM:616202
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Hereditary Elliptocytosis
Cholelithiasis, Hydrops fetalis, Stomatocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaund... ORPHA:288
Idiopathic Trachyonychia
Abnormality of the periungual region, Patchy alopecia, Autoimmune thrombocytopenia, Nail pits, Na... ORPHA:79153
Transaldolase Deficiency
Hepatosplenomegaly, Hydrops fetalis, Anemia, Cirrhosis, Edema, Thrombocytopenia ORPHA:101028
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Hepatic fibrosis OMIM:613313
Wolman Disease
Splenomegaly, Hepatomegaly, Growth delay, Anemia, Bone-marrow foam cells, Ascites ORPHA:75233
Immunodeficiency 36
Splenomegaly, Growth delay, Bronchiectasis, Short stature, Chronic lymphatic leukemia, Lymphopenia OMIM:616005
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Neutrophilia, Increased proportion of CD4-positive T cells, Lymphadenopathy, Pannic... OMIM:617099
Autoimmune Polyendocrinopathy Type 4
Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Macrocytic anemia, Thymoma, Auto... ORPHA:227990
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Bone marrow hypocellularity, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Ab... ORPHA:86841
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Decreased circulating total IgM, Recurrent respiratory infections, Decreased circula... ORPHA:2643
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Abnormality of the nail, Enamel hypoplasia, Sparse eyebrow, Carious teeth, Micrognathia, Midline ... OMIM:129540
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Mcdonough Syndrome
Short philtrum, Dental malocclusion, Hypoplastic toenails, Micrognathia, Short stature, Furrowed ... OMIM:248950
Biotinidase Deficiency
Recurrent skin infections, Splenomegaly, Hepatomegaly, Seborrheic dermatitis, Alopecia, Conjuncti... OMIM:253260
Porphyria, Congenital Erythropoietic
Cholelithiasis, Erythrodontia, Hypertrichosis, Splenomegaly, Loss of eyelashes, Absent eyebrow, S... OMIM:263700
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Pruritus, Cholestasis, Anemia, Prolonged neonatal jaundice, Por... OMIM:619377
Aicardi-Goutieres Syndrome 7
Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Atopic dermatitis, Thrombocytopenia OMIM:615846
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Hirsutism, Thrombocytopenia OMIM:314050
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Immunoglobulin M, Level Of
Decreased circulating total IgM, Meningitis OMIM:308250
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Short stature, Hepatic fibrosis OMIM:614480
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Anemia, Recurrent ur... OMIM:300755
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Atopic dermatitis, Pneumonia OMIM:617638
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Growth delay, Eczema, Lymphadenopathy OMIM:615895
Diamond-Blackfan Anemia 4
Growth delay, Neutropenia, Short stature, Macrocytic anemia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Amyloidosis, Familial Visceral
Cholestasis, Splenomegaly, Hepatomegaly, Edema, Skin rash OMIM:105200
Glutathione Synthetase Deficiency
Neutropenia, Hemolytic anemia OMIM:266130
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia, Abnormal paranasal sinus morphology, Generalized edema OMIM:207731
Dyskeratosis Congenita, Autosomal Recessive 6
Intrauterine growth retardation, Carious teeth, Nail dystrophy, Alopecia, Sparse hair OMIM:616353
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Recurrent skin infections, Abnormal natural killer cell count, ... OMIM:612260
Dyskeratosis Congenita
Blepharitis, Anemia, Aplastic/hypoplastic toenail, Abnormal fingernail morphology, Thrombocytopen... ORPHA:1775
Intellectual Disability And Myopathy Syndrome
Widely-spaced maxillary central incisors, Atopic dermatitis, Thin upper lip vermilion, Dental mal... OMIM:619719
Prolidase Deficiency
High palate, Recurrent pneumonia, Splenomegaly, Hepatomegaly, Micrognathia, Eczema, Anemia, Prolo... OMIM:170100
Niemann-Pick Disease, Type A
Microcytic anemia, Splenomegaly, Hepatomegaly, Short stature, Bone-marrow foam cells, Prolonged n... OMIM:257200
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Neonatal Lupus Erythematosus
Pancytopenia, Abnormality of the liver, Maculopapular exanthema, Splenomegaly, Hepatomegaly, Neut... ORPHA:398124
Mevalonic Aciduria
Normocytic hypoplastic anemia, Hepatosplenomegaly, Leukocytosis, Fluctuating splenomegaly, Morbil... OMIM:610377
Ectodermal Dysplasia-Syndactyly Syndrome 1
Small nail, Patchy alopecia, Coarse hair, Pili torti, Hypoplastic toenails, Conical tooth, Enamel... OMIM:613573
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Diabetes Mellitus, Transient Neonatal, 1
Dehydration, Intrauterine growth retardation OMIM:601410
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Hepatosplenomegaly, Bronchiectasis, Eczematoid dermatitis, Aplasia of the th... OMIM:242700
Boutonneuse Fever
Leukopenia, Maculopapular exanthema, Cervical lymphadenopathy, Lymphadenopathy, Thrombocytopenia,... ORPHA:83313
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Leukopenia, Leukocytosis, Thrombocytosis, Lipid accumulation in hepatocytes, ... ORPHA:20
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Pruritus, Chronic m... ORPHA:98849
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Abnormality of the nail, Alopecia totalis OMIM:302000
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Proportionate short stature, Recurrent tonsillitis, Osteomyelitis, Atopic dermati... ORPHA:171876
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Moderately short stature, Webbed neck, High palate, Bifid uvula, Dental malocclusion, Delayed eru... OMIM:612350
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Lymphadenitis, Neutrophilia, Splenomegaly, Molluscum contagiosu... OMIM:260920
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Intrauterine growth retardation, Cholecystitis, Nonimmune hydrops fetalis, Spleno... OMIM:266200
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Developmental And Epileptic Encephalopathy 66
Neutropenia, Anemia, Synophrys, Thin upper lip vermilion, Downturned corners of mouth, Wide mouth OMIM:618067
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Neutropenia, Anemia, Short stature, Thrombocytopenia OMIM:617243
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Leukopenia, Hepatosplenomegaly, Hemophagocytosis, Infectious encephalitis, Splenome... OMIM:603553
Brittle hair, Aplasia/Hypoplasia of the nails, Increased mean corpuscular hemoglobin concentratio... ORPHA:33364
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Lymphopenia, Long philtrum OMIM:605309
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Granulomatous Disease, Chronic, Autosomal Recessive, 1