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Gene: Inpp5d MGI:107357

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Gene Summary

Name:
inositol polyphosphate-5-phosphatase D
Synonyms:
SHIP1,  Src homology 2 domain-containing inositol-5-phosphatase,  SHIP,  s-SHIP,  SHIP-1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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Viewing: all phenotypes
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Viewing: all phenotypes

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 Inpp5d 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.

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

The table below shows human diseases predicted to be associated to Inpp5d by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Athrombia, Essential
Prolonged bleeding time, Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhe... OMIM:209050
Bleeding Disorder, Platelet-Type, 22
Excessive bleeding from superficial cuts, Impaired platelet aggregation, Subcutaneous hemorrhage OMIM:618462
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Post-partum hemorrhage, Impaired ADP-indu... OMIM:619130
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding after surgery, Impaired ADP-induced ... OMIM:619267
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Bleeding Disorder, Platelet-Type, 18
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Bru... OMIM:615888
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired epinephrine-induced platel... OMIM:173590
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Ecchymosis, Epistaxis, Impaired collagen-induced platelet aggregation, A... OMIM:614201
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Purpura, Imp... OMIM:273800
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Post-partum hemorrhage, Impaired platelet aggregation, Thrombocytopenia, Menorrhagia, Macrothromb... OMIM:124900
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:187950
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Giant platelets OMIM:608404
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis... OMIM:609821
Glanzmann Thrombasthenia
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... ORPHA:849
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Impaired platelet aggregation OMIM:173420
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... OMIM:618204
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility,... OMIM:614009
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Bronchiectasis, Decreased circul... OMIM:615513
Immunodeficiency 95
Increased circulating IgG3 level, Respiratory distress, Lymphopenia, Decreased circulating IgG3 l... OMIM:619773
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Giant platelets, Abnormal bleeding, Purpura, Epistaxis, Thrombo... OMIM:231200
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Bleeding Disorder, Platelet-Type, 16
Petechiae, Abnormal bleeding, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, P... OMIM:187800
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function, Abnormal bleeding ORPHA:231393
Bleeding Disorder, Platelet-Type, 14
Epistaxis, Prolonged bleeding time, Bruising susceptibility, Ecchymosis OMIM:614158
Immunodeficiency 24
Respiratory tract infection, Decreased CD4:CD8 ratio, Decreased circulating IgG level, Reduced pr... OMIM:615897
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Abnormal bleeding, Impaired platelet aggregation, Bruising susc... OMIM:277480
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Bronchiectasis, Recurrent lower respiratory tract infections, Neutropenia in presence of anti-neu... OMIM:619220
Immunodeficiency 64 With Lymphoproliferation
Decreased lymphocyte proliferation in response to mitogen, Bronchiectasis, Recurrent lower respir... OMIM:618534
Immunodeficiency 48
Failure to thrive, Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi... OMIM:202700
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Recurrent respiratory infections, Increased circulating antibody ... OMIM:614470
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired epinephrine-induced platel... OMIM:155100
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Bruising susceptibility, Epistaxis, Intestinal bleeding, Menorrhag... OMIM:605735
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Immunodeficiency 15B
Monocytosis, Failure to thrive, Reduced natural killer cell count OMIM:615592
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Epistaxis, Menorrhagi... OMIM:601709
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Factor V Deficiency
Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged prothrombin time, Menorrhagia, P... OMIM:227400
Immunodeficiency 27A
Anemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Abnormal bronchus physiology, Lymphad... OMIM:209950
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Specific Granule Deficiency 1
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac... OMIM:245480
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgE, Decreased circulating IgA leve... OMIM:606843
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Bleeding Disorder, Platelet-Type, 21
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired platelet aggregation, Meno... OMIM:617443
Immunodeficiency 19
Failure to thrive, Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell mo... OMIM:615617
Immunodeficiency 86
Impaired oxidative burst, Increased circulating IgM level, Decreased circulating IgG level OMIM:619549
Hermansky-Pudlak Syndrome 7
Post-partum hemorrhage, Impaired platelet aggregation, Bruising susceptibility, Epistaxis, Menorr... OMIM:614076
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Gray Platelet Syndrome
Abnormal number of alpha granules, Abnormal bleeding, Bruising susceptibility, Epistaxis, Impaire... OMIM:139090
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... OMIM:619281
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess, Failur... OMIM:618108
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Elevated proportion of CD4-negative, CD8-neg... OMIM:601859
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Reduced natural killer cell activity, Decreased circulating ant... OMIM:308240
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Increased alpha-globulin, Histiocytosis OMIM:235900
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Bron... OMIM:616005
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
Bleeding Disorder, Platelet-Type, 17
Petechiae, Impaired epinephrine-induced platelet aggregation, Abnormal bleeding, Bruising suscept... OMIM:187900
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, T lymphocytopenia, Reduced natural kil... OMIM:300400
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal alpha granule content, Impaired platelet aggregation, Bruising susceptibility, Epistaxis... OMIM:601399
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Anemia, Ulcerative colitis, Elevated circulating C-reactive protein concentratio... OMIM:619398
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased circulating total IgM, Short stat... OMIM:607271
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Bronchiectasis... OMIM:617514
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Bone marrow hypocellularity, Refractory anemia, Monocytosis OMIM:616871
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, T lymphocytop... OMIM:610163
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Increased proportion of memory T cells, Bronchiectasis, Hepatosplenomegal... OMIM:618982
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent respiratory infections... OMIM:613953
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Abnormal pulmonary interstitial morphology, Abnormal natural killer cell physiology, Decr... OMIM:613101
Prothrombin Deficiency, Congenital
Bruising susceptibility, Ecchymosis, Epistaxis, Gingival bleeding, Menorrhagia, Gastrointestinal ... OMIM:613679
Immunodeficiency, Common Variable, 11
Crohn's disease, Increased circulating IgE level, Inflammation of the large intestine, Decreased ... OMIM:615767
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to tetanus vaccine, Lymphopenia, ... OMIM:615401
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hypertriglyceridemia, Abnormal pulmonary interstitial morphology,... OMIM:607616
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... OMIM:618987
Immunodeficiency 102
Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence... OMIM:301082
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decreased proportion of memory... OMIM:619510
Storage Pool Platelet Disease
Prolonged bleeding time, Decreased mean platelet volume, Abnormal bleeding OMIM:185050
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t... ORPHA:70593
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Impaired platelet aggregation, Bruising susceptibility, Epistax... OMIM:193400
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Eiken Syndrome
Short phalanx of finger, Thin bony cortex, Short toe, Metaphyseal irregularity, Abnormal bone oss... ORPHA:79106
Hermansky-Pudlak Syndrome 3
Abnormal number of dense granules, Spontaneous, recurrent epistaxis, Abnormal bleeding, Impaired ... OMIM:614072
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Hepatomegaly, Extramed... OMIM:615285
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Pn... OMIM:247800
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Increased B cell count, Splenomegaly, Elevated proportion ... OMIM:603909
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ... ORPHA:169079
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Otitis media, Neonatal respir... OMIM:618781
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding OMIM:188025
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... OMIM:619313
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibo... OMIM:615206
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired collagen-related peptide-induced platelet aggregation, Petechiae, Impaired ADP-induced p... OMIM:153670
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocytopenia, Im... OMIM:308230
Schnitzler Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Hepatomegaly, Splenomegaly ORPHA:37748
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Osteochondrosis Of The Metatarsal Bone
Pedal edema, Abnormality of the fifth metatarsal bone, Flattened metatarsal heads, Sclerosis of f... ORPHA:564003
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly, Hepatomegaly OMIM:606445
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... OMIM:619846
Immunodeficiency 32B
Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Recurrent respiratory infe... OMIM:226990
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Immunodeficiency 50
Neutropenia, Recurrent respiratory infections, Lymphopenia, Decreased circulating antibody level OMIM:300988
Immunodeficiency 76
Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia OMIM:619164
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Pancytopenia, Diffuse alveolar hemorrhage, Failure to ... OMIM:616050
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Increased circulating IgM level, Monocytos... ORPHA:2688
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia OMIM:619437
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Impaired neutrophil chemotaxis, Generalize... OMIM:618986
Immunodeficiency 91 And Hyperinflammation
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Neutrophilia, Hepatosplenomegal... OMIM:619644
Eosinophilia, Familial
Anemia, Recurrent bronchitis, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Mast Cell Sarcoma
Weight loss, Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:66661
Immunodeficiency 54
Failure to thrive, Reduced natural killer cell count, Splenomegaly OMIM:609981
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent sinusitis, Absent ci... OMIM:619707
Indolent Systemic Mastocytosis
Mastocytosis, Osteoporosis, Increased proportion of CD25+ mast cells, Abnormal mast cell morpholo... ORPHA:98848
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Bruising susceptibility, Epistaxis, Prolonged bleeding time, Thrombocytopenia, Increas... OMIM:314050
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Chronic pulmonary obstruction, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Lactose Intolerance, Adult Type
Flatulence, Diarrhea, Abdominal pain, Lactose intolerance, Decreased small intestinal mucosa lact... OMIM:223100
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... OMIM:619824
Slc35A1-Cdg
Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal bleeding, Abnormal platelet granules, Gia... ORPHA:238459
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Abnormal T cell morphology, Neutropenia, Absent circulating B cells OMIM:613501
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,... ORPHA:859
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 22 concentration, Bronchiectasis, Reduced circulating interleukin... OMIM:619632
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Immunodeficiency 104
Splenomegaly, T lymphocytopenia, Failure to thrive secondary to recurrent infections OMIM:608971
Heparin-Induced Thrombocytopenia
Pulmonary embolism, Cerebral ischemia, Abnormal onset of bleeding, Myocardial infarction, Increas... ORPHA:3325
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Recurrent respiratory infections, Ab... OMIM:613500
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM, Short stature OMIM:610798
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Lymphocytic ... OMIM:618495
Hemophilia B
Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Delayed onset bleeding, Cephalohematom... ORPHA:98879
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, B lymphocytopenia, Bronchiectasis, Neutropenia in presence of an... OMIM:607594
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis ... OMIM:613502
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... OMIM:205950
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Cutaneous abs... OMIM:618944
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Recurrent upper and lower respiratory tract infections, L... OMIM:608106
Reticular Dysgenesis
Leukopenia, Hypoplasia of the thymus, Lack of T cell function, Lymphopenia, Impaired T cell funct... OMIM:267500
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis, Hematochezia OMIM:613148
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased T cell activation, Bronchiectasis, Recurrent respiratory infec... OMIM:300853
Bone Marrow Failure Syndrome 4
Leukopenia, Anemia, Rhizomelia, Short stature, Decreased circulating antibody level, Bone marrow ... OMIM:618116
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent... OMIM:601457
Ciliary Dyskinesia, Primary, 21
Decreased nasal nitric oxide, Bronchiectasis, Chronic sinusitis, Recurrent otitis media, Recurren... OMIM:615294
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Autoimmune thrombocytopen... OMIM:613011
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Absent isohemagglutinin level, Reduced natural killer cell activity, Incr... OMIM:615559
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone... ORPHA:1802
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Vomiting, Pancolitis, Abdominal pain, Ileitis, Abnormal intestine morphology, Ga... OMIM:619079
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Diarrhea 7, Protein-Losing Enteropathy Type
Vomiting, Diarrhea, Villous atrophy, Abdominal colic, Hyperlipidemia, Hypercholesterolemia, Prote... OMIM:615863
Boutonneuse Fever
Leukopenia, Lymphadenopathy, Increased circulating IgM level, Cervical lymphadenopathy, Respirato... ORPHA:83313
Refractory Anemia
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Dyspnea, Bone marrow hypocellularity, Macro... ORPHA:98826
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:614171
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced isohemagglutini... OMIM:613493
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short humerus, Rhizomelia, Short femur OMIM:600121
Ciliary Dyskinesia, Primary, 42
Respiratory insufficiency, Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chr... OMIM:618695
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, B lymphocytopenia, Lack of T cell function, Lymphopenia, Recurrent pneumonia, ... ORPHA:277
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... OMIM:615518
Mu-Heavy Chain Disease
Anemia, Weight loss, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy... ORPHA:100024
Young Syndrome
Recurrent bronchitis, Recurrent sinopulmonary infections, Bronchiectasis, Congenital pulmonary ai... OMIM:279000
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Respiratory tract infection, Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FE... ORPHA:1303
Immunodeficiency 17
T lymphocytopenia, Abnormal B cell morphology, Decreased proportion of CD8-positive T cells, Auto... OMIM:615607
Immunodeficiency 43
Reduced natural killer cell count, Lung abscess, B lymphocytopenia OMIM:241600
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Lymphopenia OMIM:614868
Immunodeficiency 68
Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia OMIM:612260
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating total IgM, B lymphocytopenia, Recurrent bronchi... OMIM:612692
Hermansky-Pudlak Syndrome 5
Impaired ADP-induced platelet aggregation, Bruising susceptibility, Absent platelet dense granule... OMIM:614074
Idiopathic Acute Eosinophilic Pneumonia
Abnormal pleura morphology, Abnormal eosinophil morphology ORPHA:724
Acute Myelomonocytic Leukemia
Anemia, Dyspnea, Leukocytosis, Eosinophilia, Thrombocytopenia ORPHA:517
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Inflammatory Bowel Disease (Crohn Disease) 1
Recurrent aphthous stomatitis, Crohn's disease, Diarrhea, Abdominal pain, Ulcerative colitis, Inf... OMIM:266600
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Cerebral vasculitis, Eosinophilia, Decreased proportion of CD4... OMIM:243700
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Ulcer... OMIM:618394
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... ORPHA:276
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopeni... ORPHA:444463
Dysplastic Cortical Hyperostosis
Polyhydramnios, Hydrops fetalis, Abnormality of neuronal migration, Aplasia/Hypoplasia of the lun... ORPHA:2204
Pneumocystosis
Respiratory insufficiency, Exertional dyspnea, Increased circulating antibody level, Interstitial... ORPHA:723
Caffey Disease
Increased circulating antibody level, Cortical thickening of long bone diaphyses, Cortical irregu... ORPHA:1310
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Immunodeficiency 44
Abnormal circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM,... OMIM:616636
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ... ORPHA:158057
Ciliary Dyskinesia, Primary, 9
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Chronic sinusitis, Recurrent o... OMIM:612444
Aggressive Systemic Mastocytosis
Anemia, Neutropenia, Leukemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Osteolysis, Incre... ORPHA:98850
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... ORPHA:2442
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Failu... OMIM:600802
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Prolonged bleeding after surgery, Petechiae, Spontaneous... ORPHA:274
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... OMIM:601376
Mounier-Kühn Syndrome
Bronchitis, Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections ORPHA:3347
Hermansky-Pudlak Syndrome 6
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis... OMIM:614075
Ciliary Dyskinesia, Primary, 33
Bronchiectasis, Recurrent bronchitis, Recurrent otitis media, Chronic rhinitis, Recurrent pneumon... OMIM:616726
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Acute lymphoblastic leukemia, Recurrent sinopulmonary infections, Lymphop... ORPHA:486
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Intrauterine growth retardation ORPHA:2802
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Ciliary Dyskinesia, Primary, 23
Chronic bronchitis, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615451
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Nodular regenerative hyperplasia of liver, Abnormal pleura morphology, Abnormal breath sound, Hep... ORPHA:210136
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia, Recurrent respiratory infections OMIM:616022
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Genu valgum, Metaphyseal irregularity, Genu ... OMIM:600785
Malaria
Anemia, Hyperbilirubinemia, Respiratory distress, Elevated circulating C-reactive protein concent... ORPHA:673
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Weight loss ORPHA:52416
Leishmaniasis
Leukopenia, Anemia, Rhinitis, Abnormal macrophage morphology, Increased circulating antibody leve... ORPHA:507
Bone Marrow Failure Syndrome 2
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:615715
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased lym... ORPHA:331206
Alpha-Heavy Chain Disease
Anemia, Malabsorption, Abdominal pain, Dysgammaglobulinemia, Abnormal small intestine morphology,... ORPHA:100025
Immunodeficiency 46
Anemia, Decreased circulating antibody level, Recurrent sinopulmonary infections, Neutropenia, In... OMIM:616740
Atypical Hemolytic Uremic Syndrome
Decreased circulating complement factor B concentration, Abnormality of complement system, Microa... ORPHA:2134
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Eosinophilic Gastroenteritis
Anemia, Vomiting, Diarrhea, Abnormality of the gastrointestinal tract, Malabsorption, Allergic rh... ORPHA:2070
Trimethylaminuria
Anemia, Hypertension, Tachycardia, Neutropenia, Splenomegaly OMIM:602079
Diarrhea 6
Abdominal pain, Crohn's disease, Chronic diarrhea OMIM:614616
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... OMIM:603552
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Respiratory insufficiency, Intraalveolar phospholipid accumulation, Decreased circulating antibod... OMIM:618042
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia OMIM:619752
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Lymphadenopathy, Increased circulating IgA level, Dec... OMIM:618048
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Anemia, Thrombocytopenia, Macrothrombocytopenia OMIM:616176
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Bruising susceptibility, Menorrhagia, Giant platelets, Prolonge... ORPHA:182050
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal t... ORPHA:3416
Angioosteohypotrophic Syndrome
Thin bony cortex, Upper limb undergrowth, Abnormal trabecular bone morphology, Hypoplasia of the ... ORPHA:75508
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... ORPHA:2585
Ciliary Dyskinesia, Primary, 46
Bronchiectasis, Reduced forced vital capacity, Recurrent sinusitis, Recurrent otitis media, Recur... OMIM:619436
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Diarrhea, Bronchiectasis, Decreased circulating total IgM, D... OMIM:616100
Jessner Lymphocytic Infiltration Of The Skin
Abnormal lymphocyte morphology ORPHA:33314
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Amegakaryocytic Thrombocytopenia, Congenital
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia OMIM:604498
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Chronic diarrhea, Malabsorption, Abdominal pain, Abdominal distention, Dyspepsia, Nause... ORPHA:103907
Immunodeficiency 70
Decreased circulating total IgM, B lymphocytopenia, Decreased circulating antibody level, Recurre... OMIM:618969
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Minimal change glomerulonephritis, Impaired lymphocyte transformation wi... OMIM:617006
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Rhinorrhea, Cough, Chronic ... OMIM:618254
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal eosinophil morphology, Weight loss, Emphysema ORPHA:1164
Sclerosteosis
Finger syndactyly, 2-3 finger syndactyly, Increased bone mineral density, Curved distal phalanges... ORPHA:3152
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... ORPHA:75564
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Asthma, Hypoxemia, Pleural effusion, Crackles, Nonproductive cough, Restrictiv... ORPHA:2902
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity, Pancytopenia OMIM:620133
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Anemia, Sideroblastic, 5
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia OMIM:619523
Ciliary Dyskinesia, Primary, 3
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Neonat... OMIM:608644
Acute Interstitial Pneumonia
Reduced hematocrit, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing, H... ORPHA:79126
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin, Short stature ORPHA:3319
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea, Abdominal distention OMIM:616868
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... OMIM:133180
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Abnormal pleura morphology, Lymphopenia, Eosinophilia ORPHA:2582
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Bronchiectasis, Recurrent respiratory infections, Ciliary dyskinesi... OMIM:615872
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding ORPHA:1059
Ciliary Dyskinesia, Primary, 27
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... OMIM:615504
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Dyspnea, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic ... ORPHA:231401
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Hepatos... ORPHA:911
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, Decreased circulating total IgM, B lymphocytopenia, Decreased circulating ant... OMIM:614069
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Jejunal Atresia
Jejunal atresia OMIM:243600
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Immunodeficiency 88
Eosinophilia OMIM:619630
Tularemia
Anemia, Brain abscess, Increased circulating antibody level, Cutaneous abscess, Abnormal nasophar... ORPHA:3392
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... OMIM:613470
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... OMIM:301078
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Idiopathic Achalasia
Bronchitis, Cough, Wheezing, Recurrent aspiration pneumonia ORPHA:930
Ciliary Dyskinesia, Primary, 36, X-Linked
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Cough, Neonatal respiratory di... OMIM:300991
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating total IgM, Bronchiectasis, B lymphocytopenia, Absent circu... OMIM:619705
Bronchopulmonary Dysplasia
Tracheobronchomalacia, Hyperoxemia, Pulmonary sequestration, Abnormal respiratory system physiolo... ORPHA:70589
Lymphoproliferative Syndrome, X-Linked, 2
Folliculitis, Hepatitis, Erythema nodosum, Decreased circulating antibody level, Pancytopenia, In... OMIM:300635
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Decreased circulating antibody level, Chronic pulmonary obstruction, Recurrent si... OMIM:616576
Idiopathic Bronchiectasis
Respiratory tract infection, Bronchiectasis, Productive cough, Abnormal respiratory system physio... ORPHA:60033
Diffuse Alveolar Hemorrhage
Anemia, Decreased circulating complement C3 concentration, Hypoxemia, Decreased circulating compl... ORPHA:90060
Pulmonary Hemosiderosis
Iron deficiency anemia, Respiratory insufficiency, Pulmonary fibrosis, Recurrent intrapulmonary h... OMIM:178550
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transf... ORPHA:35078
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the knee, Tapered finger, Abnormality of the ankle, Abnormal ... ORPHA:970
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level OMIM:235550
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Recurrent respiratory infections, Lymphadenopathy, Abnormal neutrophil count... ORPHA:3226
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Recurrent sinusitis, Bronchiectasis OMIM:618449
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomega... OMIM:150550
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Hermansky-Pudlak Syndrome 11
Bruising susceptibility, Epistaxis, Gingival bleeding, Menorrhagia, Reduced platelet dense granul... OMIM:619172
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Flexion contracture, Fractured radius, Hydrops fetalis, Short ribs, Micrognathia,... OMIM:616897
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Recurrent sinusitis, Defective B cell differentiation, Decreased... OMIM:617765
Pgm3-Cdg
Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop... ORPHA:443811
Immunodeficiency 37
Infectious encephalitis, Decreased proportion of central memory CD4-positive, alpha-beta T cells,... OMIM:616098
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... OMIM:614699
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Micrognathia, Clinodactyly of the 5th finger, Joint contracture of the 5th finger, Short foot, Cu... OMIM:248910
Carcinoma Of Esophagus
Gastroesophageal reflux, Esophageal neoplasm, Abnormal intestine morphology, Dysphagia, Barrett e... ORPHA:70482
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Increased circulating beta-2-microglobulin level, Cryoglobulinemia, Monoclonal immunoglobulin M p... ORPHA:209004
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... OMIM:619041
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal respiratory system phys... ORPHA:266
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Apnea, Respiratory failure, Elevated circulating creatine kinase conce... OMIM:613869
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia, Recurrent respiratory infections, Asthma, Recurrent sinusit... ORPHA:217390
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Abnormality of the liver, Intrauterine growth retardation, Hepatomegaly ORPHA:1980
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology OMIM:609529
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Recurrent respiratory infections, Severe short stature, Neutrope... ORPHA:2643
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells ORPHA:217260
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Increased circulati... OMIM:617099
Staphylococcal Necrotizing Pneumonia
Leukopenia, Pneumothorax, Pleural empyema, Neutrophilia, Hypoxemia, Respiratory distress, Tachypn... ORPHA:36238
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Eosino... OMIM:617638
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress OMIM:254120
Immunodeficiency 23
Hemolytic anemia, Bronchiectasis, Allergic rhinitis, Asthma, Recurrent respiratory infections, Ly... OMIM:615816
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... OMIM:602450
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Gnathodiaphyseal Dysplasia
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia, Bowing... ORPHA:53697
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Exertional dyspnea, Late inspiratory crackles, Subple... ORPHA:2302
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Knee flexion contracture, Sterile abscess, Arthritis, Elbow flexion contracture, Sterile arthriti... OMIM:604416
Fanconi Anemia, Complementation Group G
Anemia, Growth delay, Thrombocytopenia, Neutropenia, Leukemia OMIM:614082
Preeclampsia/Eclampsia 1
Thrombocytopenia, Intrauterine growth retardation OMIM:189800
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Decreased circulating antibody level, Hyperhomocystinemia, Lymphopenia, Pan... OMIM:617780
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Elevated circulating creatine kinase concentration, Dyspnea, Cough, Respira... ORPHA:90117
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis, Leukocytosis, Spleno... OMIM:618963
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Hamartoma, Respiratory distress, Upper airway obstruction, Dyspnea ORPHA:141152
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Congenital Factor Ii Deficiency
Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracranial hemorr... ORPHA:325
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Malnutrition, Abnormal intestine morphology, Protracted diarrhea, Villous atrophy OMIM:251850
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Patent ductus arteriosus, Polyhydramnios, Respiratory tract infection, Rhizomelia, D... OMIM:607143
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Rhizomelia OMIM:166990
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo... OMIM:265450
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory failure, Elevated circulating creatine kinase concentration, Respiratory insufficienc... OMIM:300717
Mulibrey Nanism
Cachexia, Hepatomegaly ORPHA:2576
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Tibial bowing... OMIM:600081
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections OMIM:253300
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... ORPHA:85188
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Recurrent aspiration pneumonia, Hepatosplenomegaly, Hepatomegaly, Absence of l... ORPHA:79124
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Thrombocytopenia, Bone marrow hypocellularity, Impaired platelet aggregation OMIM:300835
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... OMIM:619350
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Perianal abscess, Weight loss, Lymphocytosis, Thrombocytosis, ... OMIM:301074
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Anemia, Recurrent respiratory infections, Enlarged kidney, Recurrent bronchopulmonary... OMIM:617303
Ciliary Dyskinesia, Primary, 7
Decreased nasal nitric oxide, Bronchiectasis, Recurrent otitis media, Chronic rhinitis, Recurrent... OMIM:611884
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis OMIM:269600
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory insufficiency, Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, ... OMIM:618278
Ciliary Dyskinesia, Primary, 28
Rhinitis, Decreased nasal nitric oxide, Chronic bronchitis, Bronchiectasis, Respiratory insuffici... OMIM:615505
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal platelet morphology, Pyloric stenosis, Abnormal intestine morpho... ORPHA:2978
Cln3 Disease
T-wave inversion, Bradycardia, Vacuolated lymphocytes ORPHA:228346
Immunodeficiency 7
Hypereosinophilia, Recurrent respiratory infections, Autoimmune hemolytic anemia, Failure to thri... OMIM:615387
Babesiosis
Respiratory insufficiency, Leukopenia, Hemolytic anemia, Jaundice, Recurrent pharyngitis, Cough, ... ORPHA:108
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Esophagitis, Eosinophilic, 2
Esophagitis, Vomiting, Eosinophilia, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Esophagitis, Vomiting, Eosinophilia, Dysphagia OMIM:610247
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis, Crypt hyperplasia, Intractable diarrhea, Villous atrophy OMIM:613217
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Epistaxis, Increased mean platelet volume OMIM:615193
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Bronchiectasis, Desquamative interstitial pneumonitis, Decreased DLCO,... OMIM:610913
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Aplasia/Hypoplasia of the lungs, Coars... ORPHA:2635
Whim Syndrome 1
Bronchiectasis, Decreased circulating antibody level, Recurrent upper respiratory tract infection... OMIM:193670
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Lymphopenia, Follicular hyperplasia, Increased circulating IgA level, Thrombo... OMIM:615934
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Wide distal femoral metaphysis, Rhizomelia, Hip dysplasia, Limitation of join... OMIM:619598
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Immunodeficiency 96
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... OMIM:619774
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... OMIM:610921
Mogs-Cdg
Polyhydramnios, Decreased circulating total IgM, Pulmonary edema, Decreased circulating antibody ... ORPHA:79330
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Increased circulating interleuk... ORPHA:158061
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, B lymphocytopenia, Asthma, Decreased circulating IgG2 level, Abs... OMIM:102700
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Intrauterine growth retardation, Thrombocytopenia, Splenomegaly OMIM:615010
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Generalized lymphadenopathy, Recurrent sinusitis, Thrombocytopenia, Pneumonia, Sp... OMIM:614700
Pyle Disease
Thin bony cortex, Genu valgum, Hypoplastic frontal sinuses, Absent paranasal sinuses, Limited elb... OMIM:265900
Ciliary Dyskinesia, Primary, 24
Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Chronic pulmon... OMIM:615481
Paget Disease Of Bone 2, Early-Onset
Increased susceptibility to fractures, Short femur, Femoral bowing, Osteolysis, Sclerosis of skul... OMIM:602080
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormal bone ossification, Coxa vara, Abnormality of the epiphysis of the fe... ORPHA:2114
Chronic Atrial And Intestinal Dysrhythmia
Decreased body weight, Pulmonic stenosis, Failure to thrive, Ventricular escape rhythm, Mitral re... OMIM:616201
Epiphyseal Dysplasia, Multiple, 5
Broad femoral neck, Genu valgum, Metaphyseal irregularity, Coxa vara, Short metacarpal, Short fem... OMIM:607078
Macrosomia Adiposa Congenita
Obesity, Large for gestational age, Eosinophilia OMIM:248100
Systemic Mastocytosis With Associated Hematologic Neoplasm
Increased susceptibility to fractures, Acute myeloid leukemia, Splenomegaly, Increased basophil c... ORPHA:98849
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Weismann-Netter Syndrome
Anemia, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral bow... ORPHA:3344
Immunodeficiency 22
Anemia, Decreased circulating total IgM, Decreased circulating IgE, Recurrent upper respiratory t... OMIM:615758
Avian Influenza
Leukopenia, Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Lymphopenia, Elevate... ORPHA:454836
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circulating total IgM, Decr... ORPHA:90362
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea, Chronic diarrhea OMIM:613291
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal food impaction, Gastroesophageal reflux, Vomiting, Eosinophilic infiltration of the es... ORPHA:411696
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Leukopenia, Anemia, Pulmonary arterial hypertension, Hyperuricemia, Pa... OMIM:613845
Mastocytosis
Recurrent fractures, Mastocytosis, Osteoporosis, Hypercalcemia, Angioedema, Acute leukemia, Splen... ORPHA:98292
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly OMIM:610539
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Increased circulating IgE level, Eosinophilia ORPHA:482
Osteopetrosis, Autosomal Recessive 7
Anemia, Decreased circulating total IgM, Abnormal trabecular bone morphology, Recurrent pneumonia... OMIM:612301
Good Syndrome
Thymoma, Anemia, Recurrent respiratory infections, Bronchiectasis, Decreased circulating antibody... ORPHA:169105
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Recurrent respiratory infections,... OMIM:612541
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Factor X Deficiency
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Menorrhagia, Prolonged prothrombin time, P... OMIM:227600
Spondyloepiphyseal Dysplasia Congenita
Genu valgum, Upper limb undergrowth, Short femoral neck, Limited elbow movement, Short long bone,... ORPHA:94068
Tempi Syndrome
Increased hematocrit, Hypoxemia, Polycythemia, Transudative pleural effusion, Ascites, Increased ... ORPHA:284227
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... OMIM:200700
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Increased circulating interleukin 6 concentration, Ab... ORPHA:178320
Immunodeficiency 92
B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholangitis, Decreased proportion of cl... OMIM:619652
Interstitial Lung Disease 2
Pulmonary arterial hypertension, Cirrhosis, Elevated bronchoalveolar lavage fluid neutrophil prop... OMIM:178500
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Abnormal cortical bone morphology, Limitation of joint mobility, Patholog... ORPHA:166277
Fanconi Anemia, Complementation Group V
Anemia, Short stature, Elevated circulating alpha-fetoprotein concentration, Bone marrow hypocell... OMIM:617243
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... ORPHA:766
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Respiratory distress, Cough, Recurrent upper respiratory t... OMIM:263000
Alpha-2-Plasmin Inhibitor Deficiency
Joint hemorrhage, Hemothorax, Bruising susceptibility, Persistent bleeding after trauma OMIM:262850
Isolated Agammaglobulinemia
Anemia, Recurrent respiratory infections, Short stature, Abnormality of the lymphatic system, Abn... ORPHA:229717
Fetal Parvovirus Syndrome
Ascites, Anemia, Thrombocytopenia, Intrauterine growth retardation ORPHA:295
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Diarrhea, Abdominal distention, Abnormal circu... ORPHA:103910
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Bronchiectasis, Recurrent bronchopulmonary infections, Abnormally low T cell r... OMIM:242700
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Dyspnea, Hemolytic anemia ORPHA:228312
Reticular Dysgenesis
Leukopenia, Anemia, Weight loss, Decreased circulating antibody level, Aplasia/Hypoplasia of the ... ORPHA:33355
Interstitial Lung Disease 1
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... OMIM:619611
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Splenomegaly, Reduced serum alpha-1-antitrypsin, Chronic bronchitis, Bronchiectasis, H... OMIM:613490
Immunodeficiency 55
Neutropenia, Absent natural killer cells, Lymphopenia OMIM:617827
Thrombocytopenia 5
Epistaxis, Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration OMIM:618328
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Perianal abscess, Folliculitis, Pancolitis, Enterocutaneous fistula, Rectovaginal ... OMIM:612567
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Projectile vom... OMIM:615237
Wolman Disease
Anemia, Cachexia, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly ORPHA:75233
Pseudoachondroplasia
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... ORPHA:750
Essential Thrombocythemia
Prolonged bleeding time, Abnormal platelet morphology, Abnormality of thrombocytes ORPHA:3318
Idiopathic Pulmonary Fibrosis
Abnormal pulmonary interstitial morphology, Pulmonary insufficiency, Exertional dyspnea, Bronchie... ORPHA:2032
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Roifman Syndrome
Short toe, Hip contracture, Decreased T cell activation, Decreased circulating antibody level, De... ORPHA:353298
Necrotizing Enterocolitis
Hypotension, Small for gestational age, Shock, Leukocytosis, Thrombocytopenia, Neutropenia, Brady... ORPHA:391673
Idiopathic Pulmonary Hemosiderosis
Respiratory failure, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatospleno... ORPHA:99931
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Recurrent sinusitis... OMIM:615067
Epiphyseal Dysplasia, Multiple, 1
Short phalanx of finger, Broad femoral neck, Genu valgum, Short femoral neck, Avascular necrosis ... OMIM:132400
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Anemia, Short stature, Pancytopenia, Bone marrow hypocellularity, Thrombo... OMIM:616435
Systemic Lupus Erythematosus 17
Leukopenia, Decreased circulating complement C3 concentration, Lymphopenia, Autoimmune thrombocyt... OMIM:301080
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Epistaxis, Splenomegaly ORPHA:721
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Halothane Hepatitis
Hepatitis, Jaundice, Viral hepatitis, Eosinophilia, Obesity OMIM:234350
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Splenomegaly, Hepatomegaly OMIM:619175
Mastocytosis, Cutaneous
Edema, Cutaneous mastocytosis OMIM:154800
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Pulmonary v... OMIM:234810
Cranio-Osteoarthropathy
Abnormality of the knee, Arthritis, Abnormal cortical bone morphology, Clubbing of toes, Abnormal... ORPHA:1525
Refractory Celiac Disease
Jejunitis, Villous atrophy, Inflammatory abnormality of the skin, Malabsorption, Normocytic anemi... ORPHA:398063
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology