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
p140mDia,  Drf1,  Dia1,  D18Wsu154e,  mDia1,  Diap1

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
Growth delay, Short stature OMIM:616632

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

Disease Similarity of
Matching phenotypes Source
Immunodeficiency 18
Defective T cell proliferation, Recurrent gastroenteritis, Decreased proportion of CD3-positive T... OMIM:615615
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency 79
Recurrent otitis media, Decreased proportion of CD4-positive T cells, Recurrent upper respiratory... OMIM:619238
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Defective T cell proliferation, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased circulating IgG level, Decreased p... OMIM:312863
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Recurrent otitis media, Molluscum contagiosum, Increased circula... OMIM:618982
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Recurrent gastroenteritis, Autoimmune hemolytic ane... OMIM:615607
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 40
Lymphopenia OMIM:616433
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Eczema, Bone marrow hypocellu... OMIM:616871
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent viral infections, Re... OMIM:608957
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Recurrent infections, Splenomegaly OMIM:606445
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Recurrent skin infections, Anemia, Sple... OMIM:612840
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Recurrent urinary tract infections, Neutropeni... OMIM:300988
Kerion Celsi
Recurrent cutaneous abscess formation, Alopecia, Recurrent skin infections, Lymphadenopathy, Infl... ORPHA:499
Immunoglobulin A Deficiency 2
Recurrent infection of the gastrointestinal tract, Abnormal lymphocyte morphology, Decreased circ... OMIM:609529
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Chronic otitis media, Aplasia/Hypoplasia of the thymus, De... ORPHA:33355
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:613493
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Oral ulcer, Pneumonia, Hepatomegaly, Splenomegaly, Eczema, Otitis media, Lymph... OMIM:608971
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Omenn Syndrome
Severe B lymphocytopenia, Erythroderma, Pneumonia, Lymphadenopathy, Thrombocytopenia, Hypoplasia ... OMIM:603554
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Recurrent respiratory infections, Neutropenia, Agammaglobulinemia OMIM:615214
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Omenn Syndrome
Pruritus, Aplasia/Hypoplasia of the eyebrow, Leukocytosis, Thyroiditis, Abnormal lymphocyte morph... ORPHA:39041
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Recurrent infections OMIM:235900
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Agammaglobulinemia 8, Autosomal Dominant
Recurrent otitis media, Recurrent infections, B lymphocytopenia, Agammaglobulinemia OMIM:616941
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Conjunctiviti... OMIM:603552
Immunodeficiency 25
Recurrent herpes, T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE l... OMIM:610163
Classic Mycosis Fungoides
Skin rash, Pruritus, Abnormality of the nail, Abnormal lymphocyte morphology, Hepatomegaly, Edema... ORPHA:2584
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:611926
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Recurrent sinusit... OMIM:619281
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Recurren... ORPHA:444463
Alpha-Heavy Chain Disease
Growth delay, Hepatomegaly, Splenomegaly, Ascites, Alopecia, Anemia, Lymphadenopathy ORPHA:100025
Candidiasis, Familial, 2
Chronic tinea infection, Increased circulating IgE level, Chronic oral candidiasis, Onychomycosis... OMIM:212050
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, T lymphocytopenia, Increased circulating IgE level, Recurrent... ORPHA:277
Immunodeficiency 8
Lymphopenia OMIM:615401
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Lack of T cell function, Hypoplasia of the thymus, Impai... OMIM:267500
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, Neonatal sepsis, Decreased proportion of CD4-positive helper T cells, Neutropenia,... ORPHA:169154
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Benign Cephalic Histiocytosis
Histiocytosis, Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Sézary Syndrome
Pruritus, Erythroderma, Abnormal lymphocyte morphology, Hepatomegaly, Nail dystrophy, Edema, Alop... ORPHA:3162
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Chronic rhinitis due to narrow nasal airway, Extramedullary hematopoiesis, Mandibu... OMIM:259710
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Pruritus, Atopic dermatitis, Bronchiectasis, Micrognathia, Recurrent otitis media, High palate, A... OMIM:618282
Immunodeficiency 55
Neutropenia, Postnatal growth retardation, Short stature, Intrauterine growth retardation, Eczema... OMIM:617827
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Recurrent fungal infections, Chronic oral candidiasis, Decreased circulating I... OMIM:300400
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Dehydration, Anemia, Splenomegaly, Pancreatitis ORPHA:79312
Caspase 8 Deficiency
Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:607271
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Intrauterine growth retardation, Anemia ORPHA:2802
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent bacteria... OMIM:613501
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Oral ulcer, Lymphopenia, Leukemia, Periodontitis, Neutropenia, Pneumonia, Gingivitis... ORPHA:486
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Lymphadenopathy, Pancytopenia, Thromb... ORPHA:824
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Erythroderma, Neutropenia, Lymphad... OMIM:304790
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Chronic oral candidiasis, Autoimmune hemolytic anemia, Decre... OMIM:606367
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... OMIM:153600
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, Growth delay, Colitis, B lymphocytopenia, Sp... OMIM:619164
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Growth delay, Neutropenia, Hypoplasia of the thym... OMIM:612541
Osteopetrosis, Autosomal Recessive 5
Micrognathia, Extramedullary hematopoiesis, Growth delay, Pancytopenia, Thrombocytopenia, Hepatom... OMIM:259720
Osteopetrosis With Renal Tubular Acidosis
Carious teeth, Abnormality of dental morphology, Mandibular prognathia, Thrombocytopenia, Hepatom... ORPHA:2785
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618495
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, Recurrent bacterial skin infections, Recurren... ORPHA:217390
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Lymphopenia, Neutropenia, Recurrent aphthous stomatitis ORPHA:2688
Immunodeficiency 35
Increased circulating IgE level, Recurrent fungal infections, Recurrent viral infections, Recurre... OMIM:611521
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia, Recurrent bronchopulmonary infections OMIM:610798
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Intermediate Osteopetrosis
Abnormality of dental morphology, Abnormality of the dentition, Osteosclerosis of the base of the... ORPHA:210110
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Bronchiectasis, Follicular hyperplasia, He... OMIM:619126
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Cinca Syndrome
Skin rash, Leukocytosis, Lymphedema, Growth delay, Uveitis, Lymphadenopathy, Anemia, Hepatospleno... OMIM:607115
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Reduced isohemagglutinin level, Chronic (near) absent circula... OMIM:614699
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Recurrent pneumonia, Neutropenia, Anemia, Splenomegaly OMIM:602079
Immunodeficiency 69
Skin rash, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Immunodeficiency 19
Lymphopenia, Recurrent otitis media OMIM:615617
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Majeed Syndrome
Skin rash, Joint swelling, Microcytic anemia, Growth delay, Erythroid hyperplasia, Delayed pubert... OMIM:609628
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Tooth malposition, Sparse hair, Abnormality of dental morphology, Tooth age... ORPHA:2722
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia OMIM:619398
Schnitzler Syndrome
Skin rash, Pruritus, Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy, Arthritis ORPHA:37748
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Anemia, Congenital Dyserythropoietic, Type Iv
Hydrops fetalis, Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate produ... OMIM:613673
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Decreased proportion of CD3-positive T cells, Lymphopenia... ORPHA:169160
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease... OMIM:617765
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Chronic active Epstein-Barr virus infection, Persistent EBV viremia, Autoim... OMIM:300853
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Dehydration, Anemia ORPHA:28
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Hepatomegaly, Dehydration, Anemia, Leukopenia, Pancreatitis, Macrocytic anemia ORPHA:27
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Leukocytosis, Lymphadenopathy, Splenomegaly, Recurrent aphthous stomatitis, Erythema n... OMIM:611762
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent otitis media, Hirsutism, Neutropenia, Thrombocytop... OMIM:617475
Sea-Blue Histiocyte Disease
Cirrhosis, Absent axillary hair, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Granulocytopenia, Anemia OMIM:608898
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Leukocytosis, Oral ulce... ORPHA:3392
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Oral ulcer, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Short philtrum, Hypoplastic toenails, Abnormal dental enamel morpholog... ORPHA:2325
Open bite, Macroglossia, Narrow palate, Craniofacial hyperostosis, Mandibular prognathia, Chronic... ORPHA:61
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Oral ulcer, Lymphope... OMIM:618935
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Chronic otitis media, Neutropenia, Conjunctivitis, Hepatitis, Dehydrat... ORPHA:33110
Fanconi Anemia, Complementation Group S
Low anterior hairline, Narrow palate, Sparse hair, Long eyelashes, Thick upper lip vermilion, Ane... OMIM:617883
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Recurrent sinusitis, Colitis, Thrombocytopenia, Anemia, Splenomegaly, Hepatospl... OMIM:613101
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Bronchiectasis, Chron... OMIM:150550
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Anemia, Congenital Dyserythropoietic, Type Ib
Small nail, Reticulocytosis, Growth delay, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jau... OMIM:615631
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent bronchitis, Recurrent pneumonia,... OMIM:607594
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent otitis media,... OMIM:619220
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula... ORPHA:231222
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Bronchiectasis, Lymphadenitis, Lymphopenia, Recurrent otitis me... OMIM:618986
Immunodeficiency 27A
Thrombocytosis, Increased inflammatory response, Leukocytosis, Salmonella osteomyelitis, Pneumoni... OMIM:209950
X-Linked Agammaglobulinemia
Skin rash, Recurrent pneumonia, Chronic otitis media, Neutropenia, Thrombocytopenia, Conjunctivit... ORPHA:47
Immunodeficiency 67
Recurrent streptococcal infections, Increased circulating IgE level, Recurrent staphylococcal inf... OMIM:607676
Isovaleric Acidemia
Thrombocytopenia, Pancytopenia, Dehydration, Leukopenia, Bone marrow hypocellularity OMIM:243500
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis, Recurrent skin infections OMIM:610680
Immunodeficiency, Common Variable, 4
Recurrent pneumonia, Complete or near-complete absence of specific antibody response to unconjuga... OMIM:613494
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Hyperplasia of the maxilla, Decreased mean corpuscular ... ORPHA:231226
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Decreased proportion of CD4-positive helper T cells, Abnorma... ORPHA:276
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Skin rash, Pustule, Interstitial pneumonitis, Enanthema, Thyroiditis, Erythroderma... ORPHA:139402
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent bacterial... OMIM:613502
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Hydrops fetalis, Reticulocytosis, Erythroid hyperplasia, Pro... OMIM:224120
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Immunodeficiency With Hyper-Igm, Type 2
Recurrent upper and lower respiratory tract infections, Decreased circulating IgA level, Recurren... OMIM:605258
Cyclic Neutropenia
Peritonitis, Recurrent tonsillitis, Oral ulcer, Decreased eosinophil count, Tooth abscess, Lympho... ORPHA:2686
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Pruritus, Maculopapular exanthema, Hepatomeg... ORPHA:98848
Letterer-Siwe Disease
Seborrheic dermatitis, Neutropenia, Stomatitis, Thrombocytopenia, Jaundice, Anemia, Hepatosplenom... OMIM:246400
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Beta-Thalassemia Major
Hyperplasia of the maxilla, Decreased mean corpuscular hemoglobin concentration, Persistence of h... ORPHA:231214
Cronkhite-Canada Syndrome
Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Lymphedema, Hepatomegaly, Furrowed tongu... ORPHA:2930
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Fgfr2-Related Bent Bone Dysplasia
Extramedullary hematopoiesis, Hirsutism, Natal tooth, Gingival overgrowth, Micrognathia, Hepatosp... ORPHA:313855
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Skin rash, Erythroderma, Neutropenia, Maculopapular exanthema, Colitis, Thrombo... ORPHA:540
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia, Panhypogammaglobulinemia OMIM:601457
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Growth delay, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume,... OMIM:615234
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent fungal infections, Recurrent upper and lower respiratory tract infections, Autoimmune h... ORPHA:331206
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Skin rash, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopen... ORPHA:911
Netherton Syndrome
Brittle scalp hair, Allergic rhinitis, Erythroderma, Sparse scalp hair, Hypereosinophilia, Sparse... OMIM:256500
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Recurr... OMIM:618969
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Abnormality of the liver, Anemia OMIM:206100
Isolated Agammaglobulinemia
Skin rash, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Thrombocytopeni... ORPHA:229717
Immunodeficiency 48
Hepatomegaly, Eczematoid dermatitis, Pneumonia, Splenomegaly OMIM:269840
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia, Lymphadenopathy OMIM:615387
Zimmermann-Laband Syndrome
Macroglossia, Gingival fibromatosis, Absent fingernail, Growth delay, Long eyelashes, Wide mouth,... ORPHA:3473
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Anonychia, Growth delay, Scarring alopecia of scalp, Oral mucosal blisters, An... ORPHA:79402
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Meningitis, Agammaglobulinemia, Recurrent bacterial infections, Recurrent re... OMIM:613500
Neutropenia, Chronic Familial
Gingivitis, Periodontitis, Neutropenia, Premature loss of teeth OMIM:162700
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Propionic Acidemia
Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Dehydration, Anemia, Pancreatitis, Sho... OMIM:606054
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Short stature, Anemia, Dental malocclusion, Hepatosplenomegaly OMIM:259730
Hydrops fetalis, Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Sp... ORPHA:846
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hypereosinophilic Syndrome, Idiopathic
Pruritus, Hepatomegaly, Splenomegaly, Myeloproliferative disorder, Eosinophilia OMIM:607685
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Autoimmune hemolytic anemia, Recurrent sinusitis, Chronic atrophic gastritis, Thr... OMIM:616576
Griscelli Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Abnormality of neutrophils, Abnormal eyel... ORPHA:381
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Neutropenia, Short stature ORPHA:90023
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Colitis, Pancytopenia,... OMIM:300635
Lymphoproliferative Syndrome 2
Hemophagocytosis, Recurrent pneumonia, Oral ulcer, Uveitis, Pancytopenia, Hepatomegaly, Aplastic ... OMIM:615122
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Hydrops fetalis, Reticulocytosis, Abnormal erythrocyte morphology, Cong... ORPHA:766
Roifman Syndrome
Recurrent pneumonia, Long philtrum, Downturned corners of mouth, Prominent eyelashes, Recurrent o... OMIM:616651
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Rhini... ORPHA:507
Roifman Syndrome
Long philtrum, Downturned corners of mouth, Prominent eyelashes, Recurrent otitis media, Hypercon... ORPHA:353298
Skin rash, Hemolytic anemia, Pericarditis, Thyroiditis, Abnormal lymphocyte morphology, Abnormali... ORPHA:99867
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Immunodeficiency 51
Folliculitis, Pustule, Cutaneous abscess, Chronic oral candidiasis, Recurrent otitis media, Recur... OMIM:613953
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Pleural effusion, Decreased proportion ... OMIM:613011
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, B lymphocytopenia, Recurrent bacterial infect... OMIM:616873
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Congenital Atransferrinemia
Abnormality of the pancreas, Anemia, Arthritis ORPHA:1195
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... OMIM:618534
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Neutropenia, Short stature OMIM:616022
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Anemia, Abnormality of the gingiva, Eosinophilia ORPHA:517
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma, Cutaneous mastocytosis ORPHA:280785
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Anemia, Splenomegaly ORPHA:1802
Pediatric Systemic Lupus Erythematosus
Skin rash, Microangiopathic hemolytic anemia, Oral ulcer, Pleural effusion, Lymphopenia, Pericard... ORPHA:93552
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent opportunistic infections, Recurrent upper and lower respiratory tract infections, Recur... ORPHA:275
Diamond-Blackfan Anemia 9
Webbed neck, Growth delay, Anemia OMIM:613308
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Splenomegaly OMIM:619175
Immunodeficiency 13
T lymphocytopenia, Recurrent upper respiratory tract infections, Recurrent otitis media, Recurren... OMIM:615518
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Arthritis, Sterile abscess... OMIM:604416
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Polyhydramnios, Hepatomegaly, Short stature, Splenomegaly, Intrauterine growth retardation OMIM:618541
Cyclic Neutropenia
Abnormality of the mouth, Neutropenia, Cyclic neutropenia OMIM:162800
Graham Little-Piccardi-Lassueur Syndrome
Pruritus, Sparse axillary hair, Sparse scalp hair, Sparse pubic hair, Alopecia ORPHA:505
Candidiasis, Familial, 1
Premature loss of teeth, Alopecia, Chronic mucocutaneous candidiasis OMIM:114580
Dyskeratosis Congenita, Autosomal Dominant 1
Oral leukoplakia, Cirrhosis, Nail pits, Carious teeth, Sparse hair, Premature graying of hair, In... OMIM:127550
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Fetal Parvovirus Syndrome
Hydrops fetalis, Thrombocytopenia, Increased nuchal translucency, Ascites, Anemia, Intrauterine g... ORPHA:295
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Rubinstein-Taybi Syndrome 2
Carious teeth, Narrow palate, Hirsutism, Long eyelashes, Retrognathia, Increased overbite, High p... OMIM:613684
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Abnormal immunoglobulin level OMIM:614102
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyt... OMIM:600802
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Thrombocytopenia, Hepatomegaly, Dehydration, Tubulointerstitial nephritis, Pancreatitis, Leukopenia OMIM:251000
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia, Bone marrow hypocellularity ORPHA:318
Burkitt Lymphoma
Neoplasm of the oral cavity, Decreased proportion of CD4-positive helper T cells, Abnormality of ... ORPHA:543
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Pruritus, Lymphadenopathy, Splenomegaly ORPHA:86893
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Skin rash, Periorbital edema, Lymphadenopathy OMIM:618048
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Short stature, Anemia ORPHA:3319
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia OMIM:273680
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Thin vermilion border, Narrow mouth, Oligohydramnios, Ascites, Anemia, Splenomega... ORPHA:1046
Mulibrey Nanism
Enamel hypoplasia, Hydrops fetalis, Dental crowding, Hypoplastic frontal sinuses, Growth delay, H... OMIM:253250
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Gamma-Heavy Chain Disease
Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morpholo... ORPHA:100026
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hepatomegaly, Short stature, Splenomegaly OMIM:607616
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Lymphedema, Chronic otitis media, Thrombocytopenia, Bone marrow hypocellularity, He... ORPHA:3226
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent opportunistic infections, T lymphocytopenia, Absent natural killer cells, Chronic oral ... ORPHA:35078
Copper Deficiency, Familial Benign
Curly hair, Seborrheic dermatitis, Early balding, Anemia OMIM:121270
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Congenital Toxoplasmosis
Thrombocytopenia, Jaundice, Hepatomegaly, Ascites, Anemia, Cardiomegaly, Intrauterine growth reta... ORPHA:858
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Enamel hypoplasia, Carious teeth, Scarring alopecia of scalp, Punctate keratitis, Nail dysplasia,... OMIM:226670
Bone Marrow Failure Syndrome 4
Rhizomelia, Thrombocytopenia, Anemia, Leukopenia, Short stature, Eczema, Bone marrow hypocellularity OMIM:618116
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia, Growth delay, Delayed puberty, Chronic mucocutaneous ca... OMIM:614162
Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma, Hepatomegaly, Leukemia, Cutaneous mastocytosis ORPHA:79456
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Poliosis, Patchy alopecia, Short mandibular rami, Dental malocclusion,... OMIM:141300
Fanconi Anemia, Complementation Group G
Growth delay, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Lymphopenia, Chronic at... OMIM:616100
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Abnormality of the pancreas, Anemia, Neutrophilia, Abnormality of the lymphatic sy... ORPHA:54251
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Pruritus, Leukocytosis, Neutropenia, Maculopapular exan... ORPHA:98850
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Perifolliculitis, Alopecia OMIM:260910
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Lymphangiectasia, Intestinal
Abnormal hair morphology, Lymphopenia, Pedal edema, Edema, Intestinal lymphangiectasia OMIM:152800
Mixed Connective Tissue Disease
Skin rash, Hemolytic anemia, Pericarditis, Joint swelling, Hepatomegaly, Xerostomia, Keratoconjun... ORPHA:809
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Retrobulbar optic neur... ORPHA:1451
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Long eyelashes, Dehydration, Edema, Recurrent pneumonia OMIM:616069
Griscelli Syndrome Type 2
Hemophagocytosis, Hypopigmentation of hair, Premature graying of hair, Neutropenia, Pancytopenia,... ORPHA:79477
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Severe Epstein Barr virus infec... OMIM:308240
Alopecia Areata 1
Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis, Patchy alopecia OMIM:104000
Alopecia Areata 2
Alopecia of scalp, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:610753
Immunodeficiency With Hyper-Igm, Type 4
Bronchiectasis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Absence of lymph node g... OMIM:608184
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia, Micrognathia, Hepatic steatosis, Fragile teeth, Dental malo... ORPHA:2959
Seborrheic dermatitis, Joint swelling, Abnormal fingernail morphology, Abnormal hair quantity, Ec... ORPHA:2796
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Periodontitis, Congenital alopecia totalis, Alopecia universalis OMIM:104130
Immunodeficiency 54
Postnatal growth retardation, Hepatomegaly, Reduced natural killer cell count, Short stature, Spl... OMIM:609981
Methylmalonic Aciduria, Cblb Type
Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Dehydration, Anemia OMIM:251110
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Periodontitis, Abnormal eyelash morphology, Abnormality of the dentition, Sparse scalp hair, Alop... ORPHA:1008
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Widely spaced teeth, Short stature OMIM:616108
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Hypotrichosis 5
Absent pubic hair, Absent axillary hair, Alopecia, Thin eyebrow, Sparse eyelashes OMIM:612841
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Exocrine pancreatic insufficiency, Growth delay, Neutropen... ORPHA:1667
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Increased circulating IgE level, Recurrent fungal infections, Recurrent Staphylococcus aureus inf... OMIM:147060
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Recurrent funga... OMIM:102700
Follicular Lymphoma
Lymphedema, Pleural effusion, Abnormality of the peritoneum, Splenomegaly, Mediastinal lymphadeno... ORPHA:545
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Eczema, Psoriasiform dermatitis, Alopecia OMIM:617443
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly, Chilblains OMIM:610329
Auriculocondylar Syndrome 2
Short mandibular rami, Narrow mouth, Dental crowding, Mandibular condyle aplasia, Cleft palate, G... OMIM:614669
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Skin rash, Carious teeth, Allergic rhinitis, Exocrine pancreatic insufficiency, Hepatomegaly, Jau... OMIM:612714
Parc Syndrome
Absent eyelashes, Microretrognathia, Absent eyebrow, Alopecia, Cleft palate OMIM:600331
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Hemolytic anemia, Oral ulcer, Lymphopenia, Colitis, Thrombocytopenia, Anterior uveitis OMIM:616744
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Thick lower lip vermilion, Everted lower lip vermilion, Wide mouth, Abnormality of the dentition,... ORPHA:85321
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Decreased circulating antibody level, Ne... OMIM:616740
Mental Retardation, Buenos Aires Type
Curly eyelashes, Carious teeth, Mandibular prognathia, Long eyelashes, Hyperconvex thumb nails, F... OMIM:249630
Felty Syndrome
Recurrent pneumonia, Pericarditis, Abnormal lymphocyte morphology, Chronic otitis media, Neutrope... ORPHA:47612
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Lymphopenia, Panniculitis, Thrombocytopenia, Hepatomegaly, Sinusitis, Conjunctivitis, ... OMIM:617591
Methylmalonic Aciduria, Cbla Type
Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Dehydration, Anemia OMIM:251100
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Noonan Syndrome 4
Polyhydramnios, Sparse eyebrow, Webbed neck, Curly hair, High anterior hairline, Wide mouth, Thic... OMIM:610733
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormal mandible condylar process morphology, Macrodontia, Abno... ORPHA:477781
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent sinusitis, Neutropenia, Conjunctivitis, Splenomegaly, Short sta... OMIM:604173
Thumb Deformity And Alopecia
Solitary median maxillary central incisor, Short stature, Alopecia OMIM:188150
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Adult-Onset Still Disease
Skin rash, Pruritus, Pericarditis, Joint swelling, Leukocytosis, Myocarditis, Generalized lymphad... ORPHA:829
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis, Neutropenia, B... OMIM:601495
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Oligodontia, Abnormal dental enamel morphology, Scarring alopecia of scalp, Cholestasis, Hepatome... ORPHA:59303
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Peritonitis, Acute colitis, Microangiopathic hemolytic anemia, Splenic abscess, Leukocytosis, Uve... ORPHA:810
Hodgkin Lymphoma
Hepatomegaly, Pruritus, Lymphadenopathy, Splenomegaly ORPHA:98293
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Selective Igm Deficiency
Cutaneous abscess, Decreased specific antibody response to vaccination, Recurrent urinary tract i... ORPHA:331235
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios, Hepatomegaly, Anemia, Splenomegal... ORPHA:163596
Cerebellar Ataxia And Ectodermal Dysplasia
Agenesis of permanent teeth, Sparse hair, Alopecia OMIM:212835
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Lymphopenia, Septic arthritis, Pancyto... OMIM:617780
Mcdonough Syndrome
Open bite, Short philtrum, Mandibular prognathia, Abnormal palate morphology, Synophrys, Short st... ORPHA:2471
Juvenile Arthritis
Leukocytosis, Skin rash, Thrombocytosis OMIM:618795
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helper T cells, ... ORPHA:572
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Recu... OMIM:618394
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Partial absence of specific antibody response to unconjugated pneumococcus ... OMIM:240500
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Edema, Splenomegaly, Mediastinal lymphade... ORPHA:158029
Hamamy Syndrome
Long philtrum, Hypochromic anemia, Microcytic anemia, Micrognathia, Webbed neck, Wide mouth, Smoo... OMIM:611174
Kikuchi-Fujimoto Disease
Lymphocytosis, Skin rash, Pruritus, Generalized lymphadenopathy, Neutropenia, Anemia, Leukopenia,... ORPHA:50918
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Congenital Disorder Of Glycosylation, Type Ik
Thin vermilion border, Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Intrauterine growth... OMIM:608540
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Hypopigmentation of hair, Impaired neutrophil bacteric... OMIM:214500
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Arthritis ORPHA:2582
Idiopathic Hypereosinophilic Syndrome
Pruritus, Joint swelling, Generalized lymphadenopathy, Chronic hepatitis, Anemia, Neutrophilia, E... ORPHA:3260
Pfapa Syndrome
Hepatomegaly, Encephalitis, Splenomegaly, Abnormal oral cavity morphology, Lymphadenopathy, Arthr... ORPHA:42642
Alopecia Universalis
Absent eyelashes, Patchy alopecia, Alopecia universalis, Absent eyebrow ORPHA:701
Lamellar Ichthyosis
Pruritus, Abnormality of the nail, Sparse hair, Erythroderma, Everted lower lip vermilion, Chroni... ORPHA:313
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Neutropenia, Pneumonia, Myositis, E... ORPHA:37042
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Recurrent infections, Recurrent respiratory infections, Recurren... OMIM:137100
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustule, Thrombocytosis, Periungual erythema, Sparse hair, Lymphopenia, Paratracheal l... OMIM:615934
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level, Recurrent respiratory infections OMIM:137050
Lcat Deficiency
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:650
Juvenile Temporal Arteritis
Leukocytosis, Conjunctivitis, Allergic rhinitis, Eosinophilia ORPHA:26137
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Generalized lymphadenopathy, Pneumonia, Pancytopenia, Lymphadenopath... OMIM:614700
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Periodontitis, Widow's peak, Pneumonia, Reduction of neutrophil motility,... OMIM:266265
Mitochondrial Myopathy And Sideroblastic Anemia
Long philtrum, Delayed puberty, Distichiasis, Anemia, High palate, Micrognathia ORPHA:2598
Anemia ORPHA:655
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Short stature, Anemia ORPHA:3204
Majeed Syndrome
Hypochromic microcytic anemia, Pustule, Leukocytosis, Congenital hypoplastic anemia, Synovitis, H... ORPHA:77297
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Pancytopenia, Anemia, Short stature, Bone marrow hypocellularity OMIM:616435
Seckel Syndrome 1
Enamel hypoplasia, Dental crowding, Proportionate short stature, Postnatal growth retardation, Se... OMIM:210600
Whim Syndrome 1
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Neutropenia, ... OMIM:193670
H Syndrome
Abnormal eyebrow morphology, Bronchiectasis, Microcytic anemia, Enlarged kidney, Histiocytosis, P... ORPHA:168569
Farber Lipogranulomatosis
Joint swelling, Lipogranulomatosis, Hepatomegaly, Splenomegaly, Arthritis OMIM:228000
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Panniculitis, Facial edema, Pancytopenia, Anemia, Splenomegaly OMIM:618398
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Anemia OMIM:236750
Bone Marrow Failure Syndrome 6
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Lymphopenia, Recurrent sinusi... OMIM:618849
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Fibrodysplasia Ossificans Progressiva
Alopecia, Anemia ORPHA:337
Immunodeficiency 10
Amelogenesis imperfecta, Autoimmune hemolytic anemia, Thrombocytopenia, Nail dysplasia, Lymphaden... OMIM:612783
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Splenomegaly OMIM:615947
Diamond-Blackfan Anemia 8
Growth delay, Thick upper lip vermilion, Neutropenia, Short stature, Increased mean corpuscular v... OMIM:612563
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Long philtrum, Dehydration, Intrauterine growth retardation OMIM:618958
Monosomy 22
Hypochromic microcytic anemia, Seborrheic dermatitis, Aplasia of the thymus, Thin vermilion borde... ORPHA:96123
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly OMIM:300972
Cardiofaciocutaneous Syndrome 1
Open bite, Polyhydramnios, Atopic dermatitis, Sparse hair, Absent eyelashes, Open mouth, Microgna... OMIM:115150
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Oligohydramnios, Enlarged kidney, Hepatic cysts, Periportal fibrosis, Pancreatic cysts, Hepatomeg... OMIM:263200
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Gingivitis, Premature loss of teeth OMIM:618107
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Pericarditis, Joint swelling, Pleural effusion, Hepatomegaly, Juvenile rheumatoid arth... ORPHA:85414
Trichorhinophalangeal Syndrome, Type I
Long philtrum, Carious teeth, Delayed eruption of teeth, Narrow palate, Sparse hair, Deep philtru... OMIM:190350
Dyskeratosis Congenita, Autosomal Dominant 3
Oral leukoplakia, Premature graying of hair, Growth delay, Intrauterine growth retardation, Pancy... OMIM:613990
Greenberg Dysplasia
Polyhydramnios, Absent toenail, Disproportionate short-limb short stature, Tooth malposition, Mic... OMIM:215140
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Decreased proportion of CD4-positive helper T cells, Growth delay, Biliary tract abnormality, Cho... ORPHA:1549
Autoinflammation With Infantile Enterocolitis
Skin rash, Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegal... OMIM:616050
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Growth delay, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatospleno... OMIM:611490
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Anemia, Methemoglobinemia OMIM:613977
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Cirrhosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Anemia, Sple... OMIM:616860
Hemochromatosis, Type 2B
Hepatomegaly, Cirrhosis, Anemia, Splenomegaly OMIM:613313
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Immunodeficiency 49
Short philtrum, Lymphopenia, Hirsutism, Natal tooth, Micrognathia, Eosinophilia, Inflammatory abn... OMIM:617237
Takenouchi-Kosaki Syndrome
Highly arched eyebrow, Long philtrum, Short philtrum, Sparse eyebrow, Downturned corners of mouth... OMIM:616737
Wolman Disease
Bone-marrow foam cells, Growth delay, Hepatomegaly, Ascites, Anemia, Splenomegaly ORPHA:75233
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Vacuolated lymphocytes, Fair hair, Hepatomegaly, Ascites, Gingival overgrowth, S... OMIM:269920
Hemochromatosis, Type 3
Cirrhosis, Lymphopenia, Neutropenia, Anemia, Arthritis OMIM:604250
Psoriasis 14, Pustular
Pustule, Leukocytosis, Geographic tongue, Furrowed tongue, Cholangitis, Oligoarthritis, Neutrophi... OMIM:614204
Ectodermal Dysplasia 6, Hair/Nail Type
Dystrophic toenail, Sparse hair, Alopecia, Thin toenail OMIM:614928
Cerebellofaciodental Syndrome
Sparse hair, Taurodontia, Macrodontia of permanent maxillary central incisor, Sparse and thin eye... OMIM:616202
Netherton Syndrome
Skin rash, Abnormal hair morphology, Erythroderma, Sparse scalp hair, Dehydration, Sparse and thi... ORPHA:634
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholelithiasis, Normocytic anemia, Jaundice, Normochromic anemia... OMIM:611881
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Anemia, Periorbital ed... ORPHA:514
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Highly arched eyebrow, Narrow mouth, Downturned corners of mouth, Mandibular prognathi... ORPHA:1327
Transaldolase Deficiency
Cirrhosis, Hydrops fetalis, Thrombocytopenia, Edema, Anemia, Hepatosplenomegaly ORPHA:101028
Cutaneous abscess, Decreased proportion of CD4-positive helper T cells, Neutropenia, Increased ci... ORPHA:443811
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Hirsutism, Thrombocytopenia, Splenomegaly OMIM:314050
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Disproportionate short stature, Hepatic cysts, Lymphopenia, Erythroderma, Eosinophilia OMIM:617425
Skin rash, Delayed eruption of teeth, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, G... ORPHA:1855
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Low anterior hairline, Highly arched eyebrow, Short philtrum, Sparse eyebrow, ... OMIM:619293
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Panniculitis, Hepatomegaly, Edema, Splenomegaly, Myositis, Lymphaden... OMIM:619183
Gaucher Disease, Type Ii
Trismus, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Recurrent aspiration pneumonia OMIM:230900
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hemolytic anemia, Chronic otitis media, Pneumonia, Thrombocytopenia, Hep... ORPHA:169090
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails OMIM:617294
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Autoimmune thrombocytopenia, Rheumatoid arthritis, Biliary cirrhosis, Chronic atro... ORPHA:227990
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Oral ulcer, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, S... OMIM:308230
Rothmund-Thomson Syndrome
Skin rash, Carious teeth, Abnormal dental enamel morphology, Sparse eyebrow, Hypoplasia of teeth,... ORPHA:2909
Hereditary Elliptocytosis
Hydrops fetalis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal eryt... ORPHA:288
Gilbert Syndrome
Jaundice, Dehydration OMIM:143500
Peritonitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pneumonia, Biliary... ORPHA:2552
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Short stature, Splenomegaly ORPHA:417
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Amyloidosis, Familial Visceral
Skin rash, Cholestasis, Hepatomegaly, Edema, Splenomegaly OMIM:105200
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Dental crowding, Abnormality of the dentition, Thin upper lip vermilion, Triangula... OMIM:616331
Holocarboxylase Synthetase Deficiency
Growth delay, Perioral eczema, Thrombocytopenia, Alopecia, Eczema, Keratoconjunctivitis ORPHA:79242
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... ORPHA:86841
Dysplastic Cortical Hyperostosis
Polyhydramnios, Hydrops fetalis, Hepatomegaly, Short stature, Splenomegaly ORPHA:2204
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Short stature, Splenomegaly OMIM:614480
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Joint swelling, Leukocytosis, Panniculitis, Increased proportion of CD4-positive T cel... OMIM:617099
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Thrombocytopenia, Hepatomegaly, Splenomegaly, Intrauterine growth retardation OMIM:615846
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Familial Benign Copper Deficiency
Deep philtrum, Early balding, Short stature, Anemia, Acne ORPHA:1551
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Oligodontia, Exocrine pancreatic insufficiency, Abnormality of the den... ORPHA:2315
Porphyria, Congenital Erythropoietic
Abnormality of the mouth, Hemolytic anemia, Absent eyebrow, Cholelithiasis, Thrombocytopenia, Con... OMIM:263700
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Biotinidase Deficiency
Skin rash, Seborrheic dermatitis, Hepatomegaly, Conjunctivitis, Alopecia, Splenomegaly, Recurrent... OMIM:253260
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma, Acanthocytosis OMIM:604777
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Abnormality of the nail, Midline notch of upper alveolar ridge,... OMIM:129540
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Recurrent otitis media, Increased circulating IgE level, Recurrent respiratory infections, Eosino... OMIM:618523
Mcdonough Syndrome
Short philtrum, Hypoplastic toenails, Sparse hair, Mandibular prognathia, Synophrys, Furrowed ton... OMIM:248950
Immunodeficiency 36
Bronchiectasis, Lymphopenia, Growth delay, Chronic lymphatic leukemia, Short stature, Splenomegaly OMIM:616005
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:56425
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia, Eosinophilia OMIM:617638
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Moderately short stature, Delayed eruption of teeth, Thin skin, Webbed neck, Hypodontia, Short st... OMIM:612350
Dyskeratosis Congenita
Carious teeth, Premature graying of hair, Anemia, Neoplasm of the pancreas, Aplastic/hypoplastic ... ORPHA:1775
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Growth delay, Splenomegaly ORPHA:79238
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Lymphopenia, Pyoderma, Abnormal T c... OMIM:242700
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Growth delay, Neutropenia, Reticulocytopenia, Short stature, Macrocytic anemia OMIM:612527
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonat... OMIM:257200
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, Septic arthritis, B lymphoc... OMIM:612260
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Nonimmune hyd... OMIM:266200
Mevalonic Aciduria
Skin rash, Fluctuating hepatomegaly, Morbilliform rash, Leukocytosis, Thrombocytopenia, Edema, An... OMIM:610377
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Eczema, Growth delay, Lymphadenopathy OMIM:615895
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine growth retardation, Dehydration OMIM:601410
Neonatal Lupus Erythematosus
Skin rash, Hemolytic anemia, Neutropenia, Maculopapular exanthema, Pancytopenia, Thrombocytopenia... ORPHA:398124
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Sparse hair, Alopecia OMIM:203600
Prolidase Deficiency
Recurrent pneumonia, Micrognathia, High palate, Thrombocytopenia, Prolonged neonatal jaundice, He... OMIM:170100
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Interstitial pneumonitis, Autoimm... OMIM:615952
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Recurrent infections, Decreased proportion of CD4-positive ... OMIM:301045
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Highly arched eyebrow, Long philtrum, Short philtrum, Sparse eyebrow, Downturned corners of mouth... ORPHA:487796
Immunoglobulin M, Level Of
Decreased circulating total IgM, Meningitis OMIM:308250
Hyper-Igd Syndrome
Skin rash, Chronic oral candidiasis, Leukocytosis, Lymphadenitis, Oral ulcer, Molluscum contagios... OMIM:260920
Dyskeratosis Congenita, Autosomal Recessive 6
Carious teeth, Sparse hair, Alopecia, Intrauterine growth retardation, Nail dystrophy OMIM:616353
Cholestasis-Lymphedema Syndrome
Cirrhosis, Lymphedema, Neonatal cholestatic liver disease, Hepatomegaly, Jaundice, Erysipelas, Sp... OMIM:214900
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Hypoplastic toenails, Small nail, Coarse hair, Absent facial hair, Sparse scal... OMIM:613573
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Leukocytosis, Acute pancreatitis, Hepatomegaly, Jaundice, Dehydration, Edema, Ane... ORPHA:20
Secondary Intestinal Lymphangiectasia
Lymphedema, Pleural effusion, Lymphopenia, Pedal edema, Chylous ascites, Abnormality of the lymph... ORPHA:90363
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Lymphadenopathy, Thrombocytopenia, Leukopenia, Cervical lymph... ORPHA:83313
Macrocephaly/Autism Syndrome
Hepatomegaly, Long philtrum, Lymphopenia, Splenomegaly OMIM:605309
Muckle-Wells Syndrome
Skin rash, Abnormal palate morphology, Uveitis, Hepatomegaly, Conjunctivitis, Delayed puberty, Ep... ORPHA:575
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Acute Promyelocytic Leukemia
Leukocytosis, Oral cavity bleeding, Neutropenia, Stomatitis, Pancytopenia, Thrombocytopenia, Ging... ORPHA:520
Congenital Bile Acid Synthesis Defect Type 3
Pruritus, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, ... ORPHA:79302
Enamel hypoplasia, Carious teeth, Ridged nail, Neutropenia, Anemia, Eczema, High, narrow palate, ... ORPHA:33364
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Pruritus, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thromboc... ORPHA:98849
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Generalized Pseudohypoaldosteronism Type 1
Pustule, Recurrent tonsillitis, Atopic dermatitis, Proportionate short stature, Cholelithiasis, D... ORPHA:171876
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Autoimmune thrombocytopenia, Rheumatoid arthritis, Biliary cirrhosis, Hashimoto th... ORPHA:227982
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Congenital alopecia totalis, Fingernail dysplasia ORPHA:1010
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Decreased proportion of memory B cells, Abnormal natural killer cell count, Pa... ORPHA:79124
Fanconi Anemia, Complementation Group V
Neutropenia, Thrombocytopenia, Anemia, Short stature, Bone marrow hypocellularity OMIM:617243
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Developmental And Epileptic Encephalopathy 66
Downturned corners of mouth, Neutropenia, Synophrys, Wide mouth, Thin upper lip vermilion, Anemia OMIM:618067
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Thin vermilion border, Short philtrum, Oligohydramnios, Deep p... OMIM:606003
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Short stature, Rhizomelia, Splenomegaly OMIM:602271
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Recurrent otitis media, Oral cle... ORPHA:199306
Autoimmune Polyendocrine Syndrome, Type Ii
Iron deficiency anemia, Cirrhosis, Exocrine pancreatic insufficiency, Chronic hepatitis, Hepatiti... OMIM:269200
Classic Hodgkin Lymphoma
Skin rash, Pruritus, Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent pneumonia, Osteomyelitis, Lymphadenitis, Eczematoid dermatitis, Impaired oxidative burs... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2