Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhe... OMIM:209050
Bleeding Disorder, Platelet-Type, 22
Subcutaneous hemorrhage, Impaired platelet aggregation, Excessive bleeding from superficial cuts OMIM:618462
Thrombocytopenia 7
Reduced platelet dense granules, Post-partum hemorrhage, Impaired ristocetin-induced platelet agg... OMIM:619130
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Glanzmann Thrombasthenia 2
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Epistax... OMIM:619267
Immunodeficiency 40
Lymphopenia OMIM:616433
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Epistaxis, Impaired collagen-induced platelet ... OMIM:173590
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 24
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, I... OMIM:619271
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Bleeding Disorder, Platelet-Type, 8
Ecchymosis, Epistaxis, Impaired ADP-induced platelet aggregation, Abnormal bleeding, Prolonged bl... OMIM:609821
Glanzmann Thrombasthenia 1
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Impaired clot retraction, Epistaxis, Dec... OMIM:273800
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:608404
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Platelet Disorder, Undefined
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Ecchymosis, Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising sus... OMIM:614009
Immunodeficiency 17
Failure to thrive, Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia OMIM:615607
Bernard-Soulier Syndrome
Menorrhagia, Gingival bleeding, Epistaxis, Impaired ristocetin-induced platelet aggregation, Gast... OMIM:231200
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... OMIM:615513
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epist... OMIM:173470
Bleeding Disorder, Platelet-Type, 11
Ecchymosis, Menorrhagia, Epistaxis, Prolonged bleeding time, Bruising susceptibility OMIM:614201
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Bleeding Disorder, Platelet-Type, 16
Petechiae, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytopenia, Platelet ... OMIM:187800
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Bleeding Disorder, Platelet-Type, 14
Ecchymosis, Epistaxis, Prolonged bleeding time, Bruising susceptibility OMIM:614158
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Thrombocytopenia, Abnormal platelet function ORPHA:231393
Von Willebrand Disease, Type 3
Menorrhagia, Joint hemorrhage, Epistaxis, Prolonged bleeding time, Abnormal bleeding, Thrombocyto... OMIM:277480
Macrothrombocytopenia and progressive sensorineural deafness
Prolonged bleeding time, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytope... OMIM:600208
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Immunodeficiency 8
Lymphopenia OMIM:615401
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Bronchiectas... OMIM:618534
Glanzmann Thrombasthenia
Ecchymosis, Menorrhagia, Gingival bleeding, Spontaneous, recurrent epistaxis, Impaired ristocetin... ORPHA:849
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Immunodeficiency 19
Failure to thrive, Lymphopenia OMIM:615617
Bleeding Disorder, Platelet-Type, 12
Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Impaired platelet aggregation, Bru... OMIM:605735
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Bronchiectasis, L... OMIM:619220
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Quebec Platelet Disorder
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage, Epistaxis, Thro... OMIM:601709
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Enlarged mesenteric lymph node, Pneumonia, Lymphadenopathy, Anemia,... OMIM:209950
Factor V Deficiency
Menorrhagia, Prolonged prothrombin time, Epistaxis, Prolonged bleeding time, Abnormal bleeding, B... OMIM:227400
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... OMIM:245480
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Gray Platelet Syndrome
Menorrhagia, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, E... OMIM:139090
Diamond-Blackfan Anemia 19
Anemia, Steroid-responsive anemia, Erythroid hypoplasia OMIM:618312
Sebastian syndrome
Thrombocytopenia, Epistaxis, Prolonged bleeding time, Giant platelets OMIM:605249
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Reduced natural killer cell activity, Decreased circu... OMIM:308240
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Failure to thrive, Reduced natural killer cell count, Perianal abscess, T lymp... OMIM:618108
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level... OMIM:615285
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Pneumonia, Recurrent bronchitis, Chronic furunculosis, Chronic ora... OMIM:613953
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis OMIM:235900
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Menorrhagia, Epistaxis, Prolonged bleeding time, Giant platelets, Abnormal bleeding, Thrombocytop... OMIM:155100
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Failure to thrive in inf... OMIM:618987
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Epistaxis, Prolonged bleeding time, Abnormal alpha granule conten... OMIM:601399
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Menorrhagia, Impaired platelet aggregation OMIM:617443
Cernunnos-Xlf Deficiency
B lymphocytopenia, Growth delay, Decreased circulating antibody level, Anemia, Lymphopenia, Throm... ORPHA:169079
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Bloody diarrhea, Anemia, Elevated circulating C-reactive protein concentration, Ulc... OMIM:619398
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Dec... OMIM:300400
Prothrombin Deficiency, Congenital
Ecchymosis, Menorrhagia, Gingival bleeding, Prolonged prothrombin time, Joint hemorrhage, Epistax... OMIM:613679
Von Willebrand Disease, Type 1
Menorrhagia, Joint hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding time, P... OMIM:193400
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Storage Pool Platelet Disease
Decreased mean platelet volume, Prolonged bleeding time, Abnormal bleeding OMIM:185050
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Reduced natural killer cell count, Decreased proportion of CD4-posi... OMIM:619510
Immunodeficiency 52
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Ly... OMIM:617514
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia OMIM:616871
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Decreased proportion of class-switched memory B cells, Mucoi... OMIM:615767
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Bronchiolitis obliterans, Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation... OMIM:617241
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... OMIM:610163
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Increased proportion of memory T cells, Bronchiectasis, Lymphadenopathy, ... OMIM:618982
Caspase 8 Deficiency
Pneumonia, Short stature, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating... OMIM:607271
Eiken Syndrome
Limited elbow flexion, Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvis bone, Meta... ORPHA:79106
Hermansky-Pudlak Syndrome 7
Abnormal bleeding, Epistaxis, Impaired platelet aggregation, Bruising susceptibility OMIM:614076
Lactose Intolerance, Adult Type
Flatulence, Lactose intolerance, Decreased small intestinal mucosa lactase level, Diarrhea, Abdom... OMIM:223100
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Autoimmune hemolytic... OMIM:247800
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Bronchiectasis, Ot... OMIM:618781
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:188025
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, T lymphocytopenia, Splenomegaly OMIM:608971
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating IgM level ORPHA:37748
Osteochondrosis Of The Metatarsal Bone
Structural foot deformity, Sclerosis of foot bone, Abnormality of the third metatarsal bone, Flat... ORPHA:564003
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Decreased circulating IgA level, Chronic hepatitis, Impaired memory B ... OMIM:308230
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... OMIM:619374
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Decreased circulating total IgM, Splenomegaly OMIM:606445
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Immunodeficiency 50
Recurrent respiratory infections, Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
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
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Splenomegaly, Mastocytosis ORPHA:66661
Immunodeficiency 76
B lymphocytopenia, T lymphocytopenia, Lymphopenia, Splenomegaly OMIM:619164
Immunodeficiency 48
Failure to thrive, Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombo... OMIM:616050
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic bronchitis, Neutropenia, Hepatosplenomegaly, Pancytopenia, Monocytopenia, Recurrent respi... OMIM:618986
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Monocytosis, Failure to thrive, Lymphadenopathy, Pulmonary hemorrhage, Recurrent lo... OMIM:619644
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Epistaxis, Prolonged bleeding time, Thrombocytopenia, Bruising susceptibility OMIM:314050
Immunodeficiency 54
Failure to thrive, Reduced natural killer cell count, Splenomegaly OMIM:609981
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... OMIM:607594
Bleeding Disorder, Platelet-Type, 17
Ecchymosis, Petechiae, Epistaxis, Absence of alpha granules, Gastrointestinal hemorrhage, Prolong... OMIM:187900
Indolent Systemic Mastocytosis
Osteoporosis, Splenomegaly, Abnormal mast cell morphology, Increased proportion of CD25+ mast cel... ORPHA:98848
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Failure to thrive secondary to recurrent... OMIM:601457
Eosinophilia, Familial
Leukocytosis, Recurrent bronchitis, Anemia, Thrombocytopenia, Eosinophilia OMIM:131400
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Splenomegaly, Increased circulating antibody level, Recurrent resp... OMIM:618495
Slc35A1-Cdg
Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal platelet granules, Prolonged bleeding tim... ORPHA:238459
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Hermansky-Pudlak Syndrome 6
Epistaxis, Abnormal platelet granules, Prolonged bleeding time, Impaired ADP-induced platelet agg... OMIM:614075
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia ORPHA:2688
Hemophilia B
Intracranial hemorrhage, Joint hemorrhage, Spontaneous, recurrent epistaxis, Cephalohematoma, Pro... ORPHA:98879
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Asthma, Pneumonia OMIM:617638
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:205950
Tracheopathia Osteoplastica
Wheezing, Dyspnea, Recurrent pneumonia, Cough OMIM:189961
Heparin-Induced Thrombocytopenia
Cerebral ischemia, Myocardial infarction, Increased inflammatory response, Abnormal onset of blee... ORPHA:3325
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Bone Marrow Failure Syndrome 4
Leukopenia, Short stature, Rhizomelia, Decreased circulating antibody level, Anemia, Bone marrow ... OMIM:618116
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Short stature, Neutropenia, Decreased circulating total IgM OMIM:610798
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased proportion of class-switched memory B cells, Decre... OMIM:618944
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Failure to thrive, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly,... ORPHA:169154
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Absent tonsils, Lack of T cell function, Absence of lymph node germ... ORPHA:277
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... OMIM:267500
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent o... OMIM:615294
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Bronchiectasis, Lym... OMIM:300853
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia OMIM:613148
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Chronic rhin... OMIM:618695
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Recurrent uppe... OMIM:608106
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, B lymphocytopenia, Agammaglobulinemia, Neutropenia, Pneumonia, Bronchiectasis, Recurre... OMIM:601495
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Anemia, Abnorma... ORPHA:1802
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Fechtner syndrome
Menorrhagia, Prolonged bleeding time, Giant platelets, Abnormal bleeding, Thrombocytopenia, Bruis... OMIM:153640
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia, Recurrent bronchitis, Failure to thrive, Recurrent respiratory i... OMIM:613501
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating IgG level, Decreased circulating... OMIM:613011
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling OMIM:600121
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Bronchiectasis, Increased circulating IgA level, Increased circula... OMIM:619632
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased... ORPHA:83313
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... OMIM:619079
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Weight loss, Anemia, Splenomegaly, Increase... ORPHA:100024
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiolitis obliterans, Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, B... ORPHA:1303
Immunodeficiency 68
B lymphocytopenia, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Rhi... ORPHA:70593
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia, Dyspnea ORPHA:517
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Reduced natural killer cell count, T lymphocytopenia OMIM:242860
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Failure to thrive, Decreased proportion of CD3-positive T ... ORPHA:276
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Recurrent sinopulmonary infections, Decreased circ... OMIM:616576
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Vomiting, Hypercholesterolemia, Hypoalbuminemia, Diarrhea, Prote... OMIM:615863
Ciliary Dyskinesia, Primary, 9
Ciliary dyskinesia, Pneumonia, Bronchiectasis, Chronic rhinitis, Recurrent otitis media, Cough, R... OMIM:612444
Hermansky-Pudlak Syndrome 5
Menorrhagia, Epistaxis, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia, Bruising su... OMIM:614074
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Respiratory tract infectio... ORPHA:444463
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Anemia, Splenomegaly, Acute myeloid leukemia, Hepatosp... ORPHA:158057
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Intestinal obstruction, Crohn's disease, Recurrent aphthous ... OMIM:266600
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Abnormal pleura morphology ORPHA:724
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... OMIM:601376
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, C... OMIM:618394
Immunodeficiency 32B
Sinusitis, Recurrent respiratory infections, Pneumonia, Bronchiectasis OMIM:226990
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Mounier-Kühn Syndrome
Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia, Bronchitis ORPHA:3347
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration, Aplasia/Hypoplasia of the lungs, Limb undergrowth, Abnormality... ORPHA:2204
X-Linked Lymphoproliferative Disease
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... ORPHA:2442
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Increased cir... ORPHA:723
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Agammaglobulinemia, Neutropenia OMIM:615214
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Enlarged tonsils ORPHA:168621
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Recurrent otitis medi... OMIM:616726
Ciliary Dyskinesia, Primary, 27
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... OMIM:615504
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Recurrent respiratory infections, Neutropenia OMIM:616022
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Leukemia, Osteoporosis, Anemia, Abnormal ma... ORPHA:98850
Bernard-Soulier Syndrome
Menorrhagia, Gingival bleeding, Petechiae, Decreased platelet glycoprotein Ib-IX-V, Hematemesis, ... ORPHA:274
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Absent natural kil... OMIM:600802
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Bronchiectasis, Decreased circulating IgA level, Lymphadenopathy, Decreased circula... OMIM:616100
Ciliary Dyskinesia, Primary, 23
Productive cough, Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchie... OMIM:615451
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal breath sound, Crackles, Bone marrow hypocellularity, Cough, Nodular regenerative hyperpl... ORPHA:210136
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Failure to thrive, Hypoplasia of the thymus, ... OMIM:612541
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Intrauterine growth retardation, Anemia ORPHA:2802
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Mantle Cell Lymphoma
Lymphadenopathy, Weight loss, Splenomegaly ORPHA:52416
Immunodeficiency 7
Failure to thrive, Hypereosinophilia, Lymphadenopathy OMIM:615387
Leishmaniasis
Hepatomegaly, Leukopenia, Rhinitis, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophage mo... ORPHA:507
Caffey Disease
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Increase... ORPHA:1310
Malaria
Anemia, Hyperbilirubinemia, Respiratory distress, Thrombocytopenia, Elevated circulating C-reacti... ORPHA:673
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Abnormality of complement system, Decreased serum complement f... ORPHA:2134
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Pneumonia, Monocytosis, Leukemia, Recurrent sinopulmon... ORPHA:486
3-Methylglutaconic Aciduria, Type Viii
Neutropenia, Bradycardia OMIM:617248
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ... OMIM:600785
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin ... OMIM:603552
Young Syndrome
Recurrent sinopulmonary infections, Recurrent bronchitis, Bronchiectasis OMIM:279000
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis, Decreased ci... ORPHA:331206
Trimethylaminuria
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly OMIM:602079
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Short stature, Increased LDL cholesterol c... OMIM:607616
Cholesterol Pneumonia
Tachypnea, Cough, Pneumonia OMIM:215030
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Ciliary dyskinesia, Bronchiectasis, Recurrent oti... OMIM:619436
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Eosinophilic Gastroenteritis
Atopic dermatitis, Leukocytosis, Dysphagia, Allergic rhinitis, Elevated circulating C-reactive pr... ORPHA:2070
Alpha-Heavy Chain Disease
Abnormality of the small intestine, Anemia, Malabsorption, Splenomegaly, Dysgammaglobulinemia, Hy... ORPHA:100025
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Jessner Lymphocytic Infiltration Of The Skin
Abnormal lymphocyte morphology ORPHA:33314
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Nausea, Abdominal distention, Malabsorption, Dyspepsia, Chronic diarrhea, Abnormal smal... ORPHA:103907
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... OMIM:619126
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Diaphyseal thickening, Abnormal cortical bone m... ORPHA:3416
Angioosteohypotrophic Syndrome
Abnormal foot morphology, Upper limb undergrowth, Thin bony cortex, Edema, Hypoplasia of the radi... ORPHA:75508
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Myh9-Related Disease
Menorrhagia, Increased mean platelet volume, Spontaneous, recurrent epistaxis, Prolonged bleeding... ORPHA:182050
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Decreased circulating antibody level, Acute myelo... ORPHA:2585
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Immunodeficiency 46
Neutropenia, Recurrent sinopulmonary infections, Decreased circulating antibody level, Anemia, In... OMIM:616740
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneumococcal antib... OMIM:617006
Sclerosteosis
Diaphyseal thickening, Abnormal cortical bone morphology, Finger syndactyly, Curved distal phalan... ORPHA:3152
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Ciliary Dyskinesia, Primary, 29
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... OMIM:615872
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Rhinorrhea, Recurrent otitis media, Cough, Recurrent lower respiratory tract infe... OMIM:618254
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss, Emphysema, Bronchiectasis ORPHA:1164
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Short stature, Anemia, Abnormal hemoglobin ORPHA:3319
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular ... ORPHA:2790
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia, Abnormal pleura morphology ORPHA:2582
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding ORPHA:1059
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, Dyspnea, HbH hemo... ORPHA:231401
Acute Peripheral Arterial Occlusion
Leukocytosis, Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormalit... ORPHA:90064
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Hepatomegaly, Pneumonia, Decreased circulating IgA level, Reduced r... OMIM:102700
Holoprosencephaly, Recurrent Infections, And Monocytosis
Failure to thrive, Monocytosis OMIM:610680
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Recurrent resp... OMIM:616481
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Combined Immunodeficiency Due To Zap70 Deficiency
Failure to thrive, Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune... ORPHA:911
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency, Elevated circulating creatine kinase conce... OMIM:613869
Spinal Muscular Atrophy, Type I
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:253300
Diarrhea 2, With Microvillus Atrophy
Protracted diarrhea, Malnutrition, Abnormal intestine morphology, Villous atrophy OMIM:251850
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Idiopathic Bronchiectasis
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... ORPHA:60033
Ciliary Dyskinesia, Primary, 3
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Recurrent otitis media, Recurr... OMIM:608644
Immunodeficiency 88
Eosinophilia OMIM:619630
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Epistaxis, Impaired collagen-ind... OMIM:619172
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Cough, Bronchitis ORPHA:930
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Immunodeficiency 36
Chronic lymphatic leukemia, Growth delay, Short stature, Bronchiectasis, Decreased circulating an... OMIM:616005
Jejunal Atresia
Jejunal atresia OMIM:243600
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Decreased circulating antibod... OMIM:300635
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Diffuse Alveolar Hemorrhage
Leukocytosis, Hypoxemia, Irregular septal thickening on pulmonary HRCT, Decreased serum complemen... ORPHA:90060
Acute Interstitial Pneumonia
Reduced hematocrit, Hypoxemia, Reticulonodular pattern on pulmonary HRCT, Subpleural honeycombing... ORPHA:79126
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Tularemia
Brain abscess, Leukocytosis, Mediastinal lymphadenopathy, Pneumonia, Lymphadenopathy, Anemia, Cou... ORPHA:3392
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Macrocytic anemia, Decreased circulating antibody level, Megaloblastic anemia, Re... OMIM:617780
Congenital Short Bowel Syndrome
Vomiting, Congenital shortened small intestine, Abnormal peristalsis, Intestinal malrotation, Chr... OMIM:615237
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... OMIM:206000
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Foot acroosteolysis, Tapered finger, Abnormality of epiphysis morphology... ORPHA:970
Isolated Congenital Hypoglossia/Aglossia
Upper airway obstruction, Respiratory distress, Dyspnea, Hamartoma, Aspiration pneumonia ORPHA:141152
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Ciliary Dyskinesia, Primary, 28
Sinusitis, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insuffic... OMIM:615505
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Recurrent sinusitis, Impaired nasal mucociliary clearance, Bronchiectasis OMIM:618449
Ciliary Dyskinesia, Primary, 36, X-Linked
Neonatal respiratory distress, Bronchiectasis, Cough, Recurrent respiratory infections, Recurrent... OMIM:300991
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Congenital Disorder Of Glycosylation, Type Ig
Short femur, Talipes equinovarus, Edema, Decreased circulating antibody level, Rhizomelia, Short ... OMIM:607143
Fanconi Anemia, Complementation Group T
Short stature, Anemia, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia OMIM:616435
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Splenomegaly, Intermittent throm... OMIM:150550
Immunodeficiency 22
Failure to thrive, Decreased proportion of CD4-positive helper T cells OMIM:615758
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micrognathia, Adducted thumb, Ascites, Decreased fibular diameter, Limb undergrowth, Multiple pre... OMIM:616897
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive ... ORPHA:35078
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Hypoproteinemia, Pneumonia, Lymphadenopathy, Hypoplasia of the t... OMIM:603554
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Leukocytosis, Pneumonia, Leukopenia, Tachypnea, Pneumothorax, Pulmonary pneumatocele, ... ORPHA:36238
Hyperlipoproteinemia, Type Id
Colitis, Hyperlipoproteinemia, Splenomegaly OMIM:615947
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Thrombocytopenia, Intrauterine growth retardation, Hepatomegaly ORPHA:1980
Hermansky-Pudlak Syndrome 8
Menorrhagia, Gingival bleeding, Epistaxis, Abnormal bleeding, Impaired platelet aggregation, Brui... OMIM:614077
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Pulmonary Hemosiderosis
Iron deficiency anemia, Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary h... OMIM:178550
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Increased circulating beta-2-microglobulin level, Cryogl... ORPHA:209004
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Intrauterine growth retardation, Splenomegaly, Increased circulating antibody level... OMIM:615846
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Pneumonia, Increased circulating IgE level, Asthma, Recurrent respiratory infe... ORPHA:217390
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Intrauterine growth retardation, Decreased circulating IgG level, Severe short statu... ORPHA:2643
Whim Syndrome 2
Chronic neutropenia OMIM:619407
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Thrombocytosis, Sterile abscess, Elevated circulating C-reactive ... OMIM:604416
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Elevated circulating creatine kinase concentration, Cough, Respiratory failure, Dyspnea, Respirat... ORPHA:90117
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Congenital Factor Ii Deficiency
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... ORPHA:325
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Micrognathia, Cutaneous mastocytosis, Short foot, Clinodactyly of the 5th finger, Joint contractu... OMIM:248910
Fanconi Anemia, Complementation Group G
Neutropenia, Growth delay, Leukemia, Anemia, Thrombocytopenia OMIM:614082
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Hepatosplenomegaly, Pancyt... OMIM:618963
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Leukocytosis, Hypoxemia, Crackles, Hypersensitivity pneumonitis, Increased circulating ... ORPHA:2902
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... OMIM:600081
Gnathodiaphyseal Dysplasia
Thickened cortex of long bones, Bowing of the long bones, Osteopenia, Mandibular osteomyelitis, R... ORPHA:53697
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Leukocytosis, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp... OMIM:617099
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology OMIM:609529
Preeclampsia/Eclampsia 1
Thrombocytopenia, Intrauterine growth retardation OMIM:189800
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory insufficiency, Elevated circulating creatine ... ORPHA:266
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Recurrent bronchopulmonary infections, Bone marrow hypocel... OMIM:617303
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal serum interferon-gamma level, Hepatosplenomegaly, Abnormal serum interleukin level, Panc... ORPHA:79124
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Immunodeficiency 23
Allergic rhinitis, Neutropenia, Bronchiectasis, Abscess, Increased circulating IgG level, Increas... OMIM:615816
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Ciliary Dyskinesia, Primary, 5
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Respiratory insufficiency due to defecti... OMIM:608647
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Rhizomelia OMIM:166990
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphadenopathy, Splenomegaly, Decreased circulating total IgM, Pancytopenia, Recurrent respirato... OMIM:614700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Pneumonia, Decreased circulating IgG level, Decreased lymphocyte... ORPHA:169160
Carcinoma Of Esophagus
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Barrett esophagus, Gastroesophagea... ORPHA:70482
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Interlobular septal thickening, Elevated jugular venous pressure, Pul... OMIM:265450
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... OMIM:619350
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia, Chronic sinusitis, Recurrent pneumonia, Recurrent respiratory in... OMIM:613502
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption OMIM:221400
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Abnormal cortical bone morphology, Abnormality of the metaphysis... ORPHA:2635
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Increased circulating IgA level, Tachypnea, Paratracheal lymphadenopa... OMIM:615934
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6, Neutropenia, Elevated circulating C-reactive p... ORPHA:158061
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Babesiosis
Hepatomegaly, Respiratory insufficiency, Leukopenia, Cough, Splenomegaly, Recurrent pharyngitis, ... ORPHA:108
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Hip dysplasia, Limitation of joint mobility, Wide dis... OMIM:619598
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Asbestos Intoxication
Wheezing, Restrictive ventilatory defect, Hypoxemia, Subpleural honeycombing, Lung adenocarcinoma... ORPHA:2302
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Abnormal intestine morphology, Anorexia, Neutropenia, Vomiting, Decreased circul... OMIM:600351
Cardiomyopathy, Dilated, 2C
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction OMIM:618189
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Fanconi Anemia, Complementation Group V
Neutropenia, Short stature, Anemia, Bone marrow hypocellularity, Elevated alpha-fetoprotein, Thro... OMIM:617243
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Growth delay, Anemia, Splenomegaly, Increased circulating ferritin con... OMIM:615234
Candidiasis, Familial, 2
Lymphadenopathy, Increased circulating IgE level, Hypereosinophilia, Decreased serum iron OMIM:212050
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Esophagitis, Eosinophilic, 2
Dysphagia, Esophagitis, Eosinophilia, Vomiting OMIM:613412
Esophagitis, Eosinophilic, 1
Dysphagia, Esophagitis, Eosinophilia, Vomiting OMIM:610247
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Thrombocytopenia, Increased circulating antibody level OMIM:618048
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Abnormal platelet morphology, Intestinal malrota... ORPHA:2978
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia, Intrauterine growth retardation, Decreased circulating IgG level, Severe short statu... OMIM:251190
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Nonspecific interstitial pn... OMIM:610921
Whim Syndrome 1
Neutropenia, Bronchiectasis, Decreased circulating IgG level, Decreased circulating antibody leve... OMIM:193670
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Abnormality of the epip... ORPHA:2114
Acute Lung Injury
Hypoxemia, Abnormality of serum cytokine level, Increased circulating interleukin 6, Increased ci... ORPHA:178320
Bone Marrow Failure Syndrome 5
Testicular atrophy, Short stature, Decreased circulating antibody level, Anemia, Pure red cell ap... OMIM:618165
Immunodeficiency 31C
Eczema, Abnormal intestine morphology, Villous atrophy, Chronic mucocutaneous candidiasis, Lympho... OMIM:614162
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Short stature, Anemia, Hyperbilirubinemia, Splenomegaly, Ret... OMIM:613673
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... OMIM:607078
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Autoinflammatory Syndrome, Familial, Behcet-Like
Hemolytic anemia, Anterior uveitis, Ileal ulcer, Lymphopenia, Skin rash, Thrombocytopenia, Colitis OMIM:616744
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Increased susceptibility to fracture... ORPHA:98849
Spondyloepiphyseal Dysplasia Congenita
Abnormal foot morphology, Upper limb undergrowth, Micrognathia, Small epiphyses, Laryngotracheoma... ORPHA:94068
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Bronchiectasis, Recurrent bronchopulmonary infections, Aplasia of the... OMIM:242700
Good Syndrome
Sinusitis, Mediastinal lymphadenopathy, Bronchiectasis, Decreased circulating antibody level, Ane... ORPHA:169105
Macrosomia Adiposa Congenita
Obesity, Eosinophilia, Large for gestational age OMIM:248100
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Alpha-2-Plasmin Inhibitor Deficiency
Hemothorax, Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility OMIM:262850
Kimura Disease
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia ORPHA:482
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Tempi Syndrome
Hypoxemia, Ascites, Polycythemia, Abnormality of the pulmonary vasculature, Increased circulating... ORPHA:284227
Autoimmune Hemolytic Anemia, Cold Type
Dyspnea, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypocholesterolemia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Mastocytosis
Hypercalcemia, Acute leukemia, Angioedema, Chronic leukemia, Osteoporosis, Mastocytosis, Splenome... ORPHA:98292
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Respiratory insufficiency, Leukopenia, Pulmonary arterial hypertension, Anemia, Hyp... OMIM:613845
Immunodeficiency 62
Bronchiectasis OMIM:618459
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, Short foot, Toe c... ORPHA:166277
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Recurrent cutaneous abscess formation, Short stature, Abnormality of the ly... ORPHA:229717
Mogs-Cdg
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating antibody ... ORPHA:79330
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... ORPHA:750
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Recurrent upper re... OMIM:263000
Thrombocytopenia 5
Anemia, Thrombocytopenia, Epistaxis, Neutropenia OMIM:616216
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Growth delay, Ascites, Abnormal lymphatic vessel morphology, Decreased circulati... ORPHA:90362
Gray Platelet Syndrome
Thrombocytopenia, Epistaxis, Abnormality of thrombocytes, Splenomegaly ORPHA:721
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Abnormality of femur mor... ORPHA:3344
Ciliary Dyskinesia, Primary, 24
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, Recurrent sinusitis OMIM:615481
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Growth delay, Ascites, Short stature, Anemia, Decreased osteoclast count, Hyperbili... OMIM:259720
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... OMIM:178500
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Atopic dermatitis, Lactose intolerance, Feeding difficulties in infancy, Allergic rhinitis, Dysph... ORPHA:411696
Fetal Parvovirus Syndrome
Thrombocytopenia, Intrauterine growth retardation, Anemia, Ascites ORPHA:295
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Steatorrhea, Increased fecal bile acid, Fat malabsorption OMIM:613291
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Dependency on parenteral nutrition, Vomiting, Bronchiectasis, Abdominal distenti... OMIM:619445
Forsythe-Wakeling Syndrome
Thrombocytopenia, Growth delay, Short stature OMIM:613606
Necrotizing Enterocolitis
Shock, Leukocytosis, Neutropenia, Small for gestational age, Bradycardia, Thrombocytopenia, Hypot... ORPHA:391673
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Decreased circulating IgA level, Osteopetrosis, Decreased circulating IgG ... OMIM:612301
Reticular Dysgenesis
Leukopenia, Failure to thrive, Weight loss, Decreased circulating antibody level, Anemia, Aplasia... ORPHA:33355
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Intrauterine growth retardation, Respiratory insufficiency, Splenomegaly, Hepatospl... OMIM:610333
Congenital Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:327
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Honeycomb lung, Crackles, Bronchiectasis, Cough, Exertional dyspnea, Abn... ORPHA:2032
Chronic Atrial And Intestinal Dysrhythmia
Atrial fibrillation, Mitral regurgitation, Failure to thrive, Bradycardia, Pulmonic stenosis, Atr... OMIM:616201
Essential Thrombocythemia
Abnormality of thrombocytes, Abnormal platelet morphology, Prolonged bleeding time ORPHA:3318
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Chronic otitis media, Respiratory distress, Abnormal mucociliary clearance, Recur... OMIM:619466
Cranio-Osteoarthropathy
Abnormality of tibia morphology, Abnormality of the knee, Abnormal cortical bone morphology, Arth... ORPHA:1525
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abdominal distention, Abnormal circulating pro... ORPHA:103910
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Decreased circulating IgG level, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Ciliary Dyskinesia, Primary, 20
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615067
Halothane Hepatitis
Obesity, Hepatitis, Viral hepatitis, Eosinophilia, Jaundice OMIM:234350
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Primary Myelofibrosis
Leukocytosis, Cachexia, Hepatomegaly, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepa... ORPHA:824
Avian Influenza
Productive cough, Hypoxemia, Hypoalbuminemia, Pneumonia, Leukopenia, Tachypnea, Pneumothorax, Ele... ORPHA:454836
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Pulmonary Hypertension, Primary, 3
Dyspnea, Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary... OMIM:615343
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... OMIM:223320
Refractory Celiac Disease
Inflammatory abnormality of the skin, Jejunitis, Macrocytic anemia, Hypoproteinemia, Villous atro... ORPHA:398063
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis, Villous atrophy, Intractable diarrhea OMIM:613217
Wolman Disease
Hepatomegaly, Cachexia, Ascites, Anemia, Bone-marrow foam cells, Splenomegaly ORPHA:75233
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Neoplasm, Respiratory distress, Acute infectious pneumonia, Chronic lung diseas... ORPHA:140896
Acute Erythroid Leukemia
Leukopenia, Anemia, Bone marrow hypocellularity, Erythroid hypoplasia, Pancytopenia ORPHA:318
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Edema OMIM:154800
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Hepatomegaly, Crackles, Iron deficiency anemia, Cardiomegaly, Cou... ORPHA:99931
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Avascular necrosis of the capital femor... OMIM:132400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hypophosphatemic Rickets, X-Linked Recessive
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Metaphyseal irregul... OMIM:300554
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophi