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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
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... OMIM:209050
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... OMIM:619130
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Platelet Signal Processing Defect
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... OMIM:173590
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... OMIM:619271
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... OMIM:614201
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Epistaxis, Decreased platelet glyc... OMIM:273800
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... OMIM:124900
Thrombocythemia 1
Impaired collagen-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet agg... OMIM:187950
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... OMIM:609821
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... ORPHA:849
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility... OMIM:614009
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 l... OMIM:619773
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Impaired rist... OMIM:231200
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impa... OMIM:187800
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal platelet function, Thrombocytopenia ORPHA:231393
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Immunodeficiency 24
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Respiratory tract infection, Decreased ... OMIM:615897
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Joint he... OMIM:277480
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Failure to thrive OMIM:269840
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Ras-Associated Autoimmune Leukoproliferative Disorder
Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Hepatomegaly, Autoimmune thromb... OMIM:614470
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:155100
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... OMIM:605735
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency 15B
Monocytosis, Failure to thrive, Reduced natural killer cell count OMIM:615592
Quebec Platelet Disorder
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... OMIM:601709
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency 27A
Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphade... OMIM:209950
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... OMIM:617443
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... OMIM:614076
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... OMIM:618108
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi... OMIM:619281
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:601859
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem... OMIM:308240
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Short stature, Splenomegaly, Recurrent upper respiratory tract i... OMIM:616005
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Petechiae, Epistaxis, Pr... OMIM:187900
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Redu... OMIM:300400
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Recurrent upper respira... OMIM:617585
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Prolonged bleeding time, Epistaxis, Bruising susceptibility, Impaired platelet aggregation, Abnor... OMIM:601399
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Abnormal proportion of CD8-positive T cells, Abnormal n... OMIM:212050
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... OMIM:619398
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchiolitis obli... OMIM:617241
Caspase 8 Deficiency
Decreased circulating IgG level, Recurrent sinopulmonary infections, Complete or near-complete ab... OMIM:607271
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Immunodeficiency 62
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Decrea... OMIM:618459
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ... OMIM:610163
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity OMIM:616871
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ... OMIM:613953
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Bronchiectasis, Lymphadenopathy, Increased proportion of memory ... OMIM:618982
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume OMIM:185050
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, De... ORPHA:397596
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infection... OMIM:613101
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, T lymphocytopenia, Decreased proportion of CD4-positive helper T ce... OMIM:619510
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell receptor excision circle l... OMIM:618987
Immunodeficiency, Common Variable, 11
Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of class-switched memory B... OMIM:615767
Immunodeficiency 102
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... OMIM:301082
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Niemann-Pick Disease, Type B
Hepatomegaly, Recurrent respiratory infections, Decreased HDL cholesterol concentration, Short st... OMIM:607616
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Eiken Syndrome
Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morphology, Absenc... ORPHA:79106
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... OMIM:615285
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... OMIM:614072
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... OMIM:603909
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Plasmacytosis, Increased circulating antibody level, Lymp... OMIM:247800
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia,... ORPHA:169079
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Increa... OMIM:605258
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Epistaxis, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced plat... OMIM:153670
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia ORPHA:37748
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Antithrombin Iii Deficiency
Arterial occlusion, Pulmonary embolism OMIM:613118
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Recurrent sinopulmonary infections, Absent specific antibody response, Decreased proportion of CD... OMIM:619846
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Immunodeficiency 32B
Recurrent respiratory infections, Hepatomegaly, Neutrophilia, Pneumonia, Eosinophilia, Thrombocyt... OMIM:226990
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, Increased ... ORPHA:98813
Immunodeficiency 50
Recurrent respiratory infections, Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen... ORPHA:2688
Immunodeficiency 76
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia OMIM:619164
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Decreased lymphocyte proliferati... OMIM:620282
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natur... OMIM:616050
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased... OMIM:618986
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Hepa... OMIM:619644
Immunodeficiency 54
Splenomegaly, Failure to thrive, Reduced natural killer cell count OMIM:609981
Eosinophilia, Familial
Eosinophilia, Recurrent bronchitis, Thrombocytopenia, Leukocytosis, Anemia OMIM:131400
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis ORPHA:66661
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Petechiae, Epistaxis, Reduced platelet alpha granules, Increased mean pl... OMIM:314050
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Abnormal pl... ORPHA:238459
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Immunodeficiency 104
Splenomegaly, Failure to thrive secondary to recurrent infections, T lymphocytopenia OMIM:608971
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... OMIM:619632
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... ORPHA:169154
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Lymphocytic intersti... OMIM:618495
Heparin-Induced Thrombocytopenia
Increased inflammatory response, Myocardial infarction, Pulmonary embolism, Abnormal onset of ble... ORPHA:3325
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Short stature, Decreased circulating total IgM, Neutropenia OMIM:610798
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia... OMIM:607594
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent upper respiratory tract infections, ... OMIM:618944
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Recurre... OMIM:608106
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... OMIM:300853
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease OMIM:613148
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Short stature, Rhizomelia, Decreased circulating antibody level... OMIM:618116
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive, B lymphocytopenia, Failure to thrive secondary to recurrent... OMIM:601457
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased... ORPHA:83313
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Abdominal colic, Hyperlipidemia, Diarrhea, Protein-losing enteropathy, Hypoalbum... OMIM:615863
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Dysp... ORPHA:98826
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus OMIM:600121
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Absence of lymph node germinal center, Recurrent upper respiratory tract infections, R... ORPHA:277
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... OMIM:615607
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul... ORPHA:100024
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Immunodeficiency 68
T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Abnormal pleura morphology ORPHA:724
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... OMIM:614074
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Decreased proportion of CD4-positive ... OMIM:243700
Acute Myelomonocytic Leukemia
Eosinophilia, Dyspnea, Leukocytosis, Anemia, Thrombocytopenia ORPHA:517
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Failure to thrive, Reduced natural killer cell count OMIM:242860
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Polyhydramnios, Splenomegaly, Abnormal limb bone morphology, Abno... ORPHA:2204
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Hepatomegaly, Recurrent respiratory infections, Short stature, P... OMIM:620210
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Abnormally low T cell rece... ORPHA:276
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu... OMIM:618394
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... ORPHA:1310
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... ORPHA:444463
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Abdominal pain, Splenom... ORPHA:100025
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... OMIM:612444
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Pneumonia, Eosinophi... ORPHA:486
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Petechiae, Hema... ORPHA:274
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:616726
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Intrauterine growth retardation, Anemia ORPHA:2802
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:614075
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Failure to thrive, Neutropenia OMIM:616022
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Malaria
Respiratory distress, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hy... ORPHA:673
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Nodular regenerative hyperplasia of liver, Abnormal pleura morphology, Incre... ORPHA:210136
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Decreased circulating antibody... OMIM:616740
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... ORPHA:507
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... ORPHA:331206
Atypical Hemolytic Uremic Syndrome
Decreased circulating complement factor B concentration, Abnormality of complement system, Microa... ORPHA:2134
Mantle Cell Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy ORPHA:52416
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Trimethylaminuria
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia OMIM:602079
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ... ORPHA:2070
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... OMIM:603552
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ... ORPHA:182050
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia OMIM:619752
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased circula... OMIM:618048
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia OMIM:616176
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... ORPHA:103907
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Bronchiectasis, Weight loss ORPHA:1164
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Atrophic gastritis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, Au... OMIM:616100
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Jessner Lymphocytic Infiltration Of The Skin
Abnormal lymphocyte morphology ORPHA:33314
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Glycine Encephalopathy 2
Respiratory failure, Nonketotic hyperglycinemia OMIM:620398
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Immunodeficiency 70
Decreased circulating antibody level, Decreased circulating total IgA, Decreased circulating tota... OMIM:618969
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... OMIM:617006
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Crackles, Hypersensitivity pneumonitis, At... ORPHA:2902
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia ORPHA:3319
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Abnormal pleura morphology ORPHA:2582
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Elevated circulat... ORPHA:79126
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding ORPHA:1059
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... ORPHA:231401
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Recurrent upper respiratory tract infections, Decreased circulating antibody level, Gr... OMIM:614069
Jejunal Atresia
Jejunal atresia OMIM:243600
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... ORPHA:2790
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Immunodeficiency 88
Eosinophilia OMIM:619630
Tularemia
Respiratory distress, Brain abscess, Pneumonia, Mediastinal lymphadenopathy, Leukocytosis, Cervic... ORPHA:3392
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphoc... OMIM:301078
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Indolent Systemic Mastocytosis
Splenomegaly, Osteoporosis, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast... ORPHA:98848
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:300991
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough ORPHA:930
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... OMIM:619705
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infections, Erythema no... OMIM:300635
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Chronic pul... OMIM:616576
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Myocardial... ORPHA:60033
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Cough, Dyspnea, Leukocytosis, Increased DLCO,... ORPHA:90060
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Fractured radius, Polyhydramnios, Decreased fibular diameter, Multiple p... OMIM:616897
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... ORPHA:970
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced i... OMIM:614699
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... ORPHA:3226
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Pgm3-Cdg
Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, A... ORPHA:443811
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... ORPHA:35078
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia, Hamartoma ORPHA:141152
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... OMIM:602450
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:617765
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Pneumonia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Ul... OMIM:617638
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M p... ORPHA:209004
Hermansky-Pudlak Syndrome 11
Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Impaired collagen-ind... OMIM:619172
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... OMIM:608203
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Abscess, Eosinophilia, Allergic rhinitis, Ast... OMIM:615816
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Pneumonia, Asthma, Increased circulating IgE level, T lymphocyt... ORPHA:217390
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology OMIM:609529
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia, Intrauterine growth retardation ORPHA:1980
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Severe short stature, Decreased circulating total IgM, Neutrope... ORPHA:2643
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Elevated circulating creatine kinase concentration, Abnormal respiratory ... ORPHA:266
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Elevated circulating C-reactive protein concentration, Increased circulating IgA le... OMIM:617099
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... ORPHA:53697
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Fanconi Anemia, Complementation Group G
Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elb... OMIM:604416
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Thrombocytopenia OMIM:189800
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... OMIM:617780
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentrat... ORPHA:36238
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... OMIM:618963
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Elevated circulating creatine kinase concentration, Respiratory insuf... OMIM:613869
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... ORPHA:2302
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo... OMIM:265450
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatos... ORPHA:169160
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Thrombocytopenia OMIM:166990
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Elevated circulating creat... OMIM:300717
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... OMIM:600081
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced nat... OMIM:301074
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter... OMIM:620296
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Recurrent bro... OMIM:617303
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... ORPHA:90117
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia OMIM:300835
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency OMIM:253300
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Cln3 Disease
T-wave inversion, Vacuolated lymphocytes, Bradycardia ORPHA:228346
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa... ORPHA:79124
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Decreased proportion of CD4-positive T cells, Decreased body weight ORPHA:477814
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... ORPHA:2978
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Esophagitis, Eosinophilic, 2
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:610247
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Hypere... OMIM:615387
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Arthritis, Villous atrophy, Crypt hyperplasia OMIM:613217
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,... OMIM:618278
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Elevated circulating C-reactive protein concentration, Follicul... OMIM:615934
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... OMIM:619598
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, Fe... OMIM:602080
Metatropic Dysplasia
Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Aplasia/H... ORPHA:2635
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Genu valgum, Reduced bo... OMIM:265900
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Growth delay, Decreased circulating total IgM, Defec... OMIM:619774
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL ... OMIM:246700
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated c... ORPHA:158061
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Immunodeficiency, Common Variable, 8, With Autoimmunity
Generalized lymphadenopathy, Decreased circulating IgG level, Autoimmune thrombocytopenia, Bronch... OMIM:614700
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Splenomegaly, Intrauterine growth retardation, Thrombocytopenia OMIM:615010
Pulmonary Hemosiderosis
Iron deficiency anemia, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insu... OMIM:178550
Babesiosis
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Recurrent pharyngitis, Respiratory insuff... ORPHA:108
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea OMIM:613291
Mogs-Cdg
Generalized edema, Pulmonary edema, Edema, Polyhydramnios, Decreased circulating antibody level, ... ORPHA:79330
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Recurrent pneumonia, Anemia, D... OMIM:612301
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Kimura Disease
Lymphadenopathy, Increased circulating IgE level, Eosinophilia, Follicular hyperplasia ORPHA:482
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Avian Influenza
Respiratory distress, Pneumonia, Elevated circulating creatine kinase concentration, Elevated cir... ORPHA:454836
Thrombocytopenia 5
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
Immunodeficiency 22
Decreased circulating IgG level, Abscess, Recurrent upper respiratory tract infections, Anemia, D... OMIM:615758
Immunodeficiency 92
Hepatomegaly, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-switched memory... OMIM:619652
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Respiratory insufficiency, Increased blood urea nitrogen, Anemia, Leu... OMIM:613845
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Leukopenia, Decreased circulating complement C3 concentration, Decre... OMIM:301080
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Weight loss, Leukopenia, Failur... ORPHA:33355
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumo... OMIM:242700
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... ORPHA:94068
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent respiratory infections, Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia,... OMIM:612541
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Hypoproteinemia, Peritoneal effusion, Abnormal lymphatic vessel ... ORPHA:90362
Alpha-2-Plasmin Inhibitor Deficiency
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax OMIM:262850
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Fetal Parvovirus Syndrome
Thrombocytopenia, Ascites, Anemia, Intrauterine growth retardation ORPHA:295
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Mediastinal lymphaden... ORPHA:169105
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... ORPHA:166277
Tempi Syndrome
Transudative pleural effusion, Hypoxemia, Increased circulating IgG level, Increased hematocrit, ... ORPHA:284227
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Short stature... ORPHA:229717
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Fanconi Anemia, Complementation Group V
Short stature, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marro... OMIM:617243
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple... ORPHA:98850
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab... ORPHA:103910
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Cough, Splenomegaly, Panacinar emphysema, Dyspnea, Chronic pulmonary ob... OMIM:613490
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Roifman Syndrome
Hip contracture, Epiphyseal dysplasia, Eosinophilia, Delayed proximal femoral epiphyseal ossifica... ORPHA:353298
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Interstitial Lung Disease 2
Cough, Dyspnea, Elevated bronchoalveolar lavage fluid neutrophil proportion, Alveolar cell carcin... OMIM:178500
Essential Thrombocythemia
Prolonged bleeding time, Abnormality of thrombocytes, Abnormal platelet morphology ORPHA:3318
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Anemia ORPHA:75233
Refractory Celiac Disease
Normocytic anemia, Villous atrophy, Macrocytic anemia, Inflammatory abnormality of the skin, Mala... ORPHA:398063
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Pes planus, Joint stiffness, Avascular necrosis of the ca... OMIM:132400
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Sandal gap, Rhizomelia, Edema, Polyhydramnios, Patent ductus arterios... OMIM:607143
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... OMIM:234810
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Acute Lung Injury
Respiratory distress, Increased circulating interleukin 6 concentration, Pneumonia, Elevated circ... ORPHA:178320
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Bone marrow hypocellularit... OMIM:616435
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Failure to thrive in infancy, Hepatomegaly OMIM:619175
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Gray Platelet Syndrome
Splenomegaly, Epistaxis, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Necrotizing Enterocolitis
Shock, Small for gestational age, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Thrombocyt... ORPHA:391673
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Cach... ORPHA:83469
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... ORPHA:824
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficiency, Hepatosplenomegaly, Intraute... OMIM:610333
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Cranio-Osteoarthropathy
Abnormality of the knee, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of ... ORPHA:1525
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Crack... ORPHA:99931
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Immunodeficiency 40
Hepatomegaly, Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, Growth de... OMIM:616433
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... OMIM:615343
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Abnormal circulating calcium concentration, Multip... OMIM:619795
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia, Weight loss ORPHA:3165
Forsythe-Wakeling Syndrome
Growth delay, Short stature, Thrombocytopenia OMIM:613606
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Abnormal c... OMIM:241530
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia... OMIM:240500
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Pulmonary fib... OMIM:619767
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Immunoglobulin A Deficiency 1
Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level, Malabsorption OMIM:137100
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent streptococcus pneumoniae infections ORPHA:70592
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... OMIM:300554
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... OMIM:618935
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Pulmonary embolism OMIM:612336
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Recurrent respiratory infections, Respiratory insufficiency, Hepatomegaly ORPHA:139406
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis ORPHA:157991
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Zika Virus Disease
Intrauterine growth retardation, Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Abnormal pulmonary interstitial morpholo... ORPHA:77259
Griscelli Syndrome
Hepatomegaly, Abnormal circulating lipid concentration, Short stature, Abnormality of neutrophils... ORPHA:381
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Amed Syndrome, Digenic
Acute myeloid leukemia, Short stature, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocy... OMIM:619151
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro... OMIM:619858
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... ORPHA:1860
Ck Syndrome
Micrognathia, Abnormal cortical bone morphology, Pachygyria, Abnormal digit morphology, Polymicro... OMIM:300831
Diarrhea 9
Villous atrophy, Diarrhea OMIM:618168
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Pneumonia, Pure red cell aplasia, Autoimmun... OMIM:613179
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Respiratory failure, Respiratory insufficiency OMIM:611722
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor... OMIM:606367
C1Q Deficiency 2
Elevated circulating C-reactive protein concentration, Atelectasis, Decreased circulating C1q con... OMIM:620321
Familial Expansile Osteolysis
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex OMIM:174810
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Abnormal bleeding, Decreased circulating antibody... OMIM:604928
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... OMIM:615631
Gorham-Stout Disease
Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Edema, Osteolysis involving bones of ... ORPHA:73
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Respiratory insuff... ORPHA:848
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Purpura, Pulmonary embolism OMIM:612304
Atelosteogenesis Type I
Short femur, Rhizomelia, Polyhydramnios, Micrognathia, Abnormal ossification involving the femora... ORPHA:1190
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Hepatosplenomegal... OMIM:615122
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Short stature, Abnormality of the tonsils, Abno... ORPHA:47
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... OMIM:264700
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Polyhydramnios, Micrognathia, Limitation of joint mobility, Slender long bon... ORPHA:1486
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hepatomegaly, Hyperammonemia, Anemia, Growth delay, Neutropenia, Pancreatit... ORPHA:289916
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... OMIM:608233
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Transaldolase Deficiency
Abnormal respiratory system physiology, Hepatosplenomegaly, Anemia, Abnormal circulating glutamin... ORPHA:101028
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Decreased proportion of class-switched memory B cells, Decrea... OMIM:614878
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis... OMIM:619445
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Hyperammonemia, Respiratory insufficiency, Anemia, Leukopenia, P... ORPHA:27
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Crackles, Cough, Mediastinal lymphadenopathy, Usual interstitial p... OMIM:614742
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Desquamative interstitia... OMIM:615952
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Hyperparathyroidism, Transient Neonatal
Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Polyhydramnios, Patent ductus ar... OMIM:618188
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatit... ORPHA:79312
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Epistaxis, Thrombocytopenia OMIM:613554
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:277440
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... OMIM:617092
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Intermittent jaundice, Reticulocytosis OMIM:179700
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Abnormalit... ORPHA:540
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Weight loss, Hepatomegaly ORPHA:79238
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... ORPHA:69126
Atelis Syndrome 1
Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Anemia, Leukopenia, T... OMIM:620184
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Pulmonary fibrosis, Emphysema, Lymphopenia, Thrombocytopenia OMIM:620365
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... OMIM:617091
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Chronic pulmon... OMIM:615482
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna... OMIM:613848
Grant Syndrome
Bowing of the long bones, Micrognathia, Decreased skull ossification, Joint hyperflexibility, Abn... ORPHA:2097
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Gastrointestinal ... ORPHA:543
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... OMIM:614017
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Lymphadenopathy, Bone marrow hypo... ORPHA:101096
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Felty Syndrome
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Splenomegaly, Recurrent pharyngitis, R... ORPHA:47612
Common Variable Immunodeficiency
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen... ORPHA:1572
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Splenomegaly, Asthma, Recurrent pneumonia, Anemia, Increased ... OMIM:170100
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Cutaneous mastocytosis, Micrognathia, Short foot, Joint contracture of the 5th finger, Clinodacty... OMIM:248910
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Elevated circulating creatine kinase concentration, Respiratory insufficien... OMIM:614399
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Hypertriglyceridemia, Sinusitis, Splenomegaly, Lymphadenopathy, Anemia, Increased c... OMIM:617591
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Wheezing, Recurrent pneumonia, Bronchiectasis, B... OMIM:300755
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Japanese Encephalitis
Hyponatremia, Stiff neck, Genu recurvatum, Neutrophilia, Elbow flexion contracture, Increased cir... ORPHA:79139
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia ORPHA:88643
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... OMIM:265120
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia OMIM:614038
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Protein-losing enteropathy, Hyperglycinemia OMIM:619063
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Intrauterine growth retardation, A... ORPHA:858
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Elevated circulating creatine kinase concentration OMIM:604801
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Feeding di... OMIM:300048
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... ORPHA:1201
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Chronic h... ORPHA:572
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Hepatosplenomegaly, Anemia, Leukopenia, I... ORPHA:505248
Pancreatic Lipase Deficiency
Fat malabsorption, Hypocholesterolemia, Steatorrhea OMIM:614338
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... OMIM:610910
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormal lung morphology... ORPHA:54251
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... OMIM:147891
Hermansky-Pudlak Syndrome 8
Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival bleeding, Excessive ble... OMIM:614077
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Polyhydramnios, Short phalanx of finger, Hypoplastic cervical vertebrae... ORPHA:56304
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:86893
Phosphoglycerate Dehydrogenase Deficiency
Growth delay, Decreased testicular size, Thrombocytopenia, Megaloblastic anemia OMIM:601815
Pancreatic Colipase Deficiency
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Fat malabsorption, Exocrine pancreatic insuf... ORPHA:309108
Brucellosis
Liver abscess, Bronchitis, Elevated circulating C-reactive protein concentration, Leukopenia, Abn... ORPHA:1304
Immunodeficiency, Common Variable, 6
Hepatomegaly, Recurrent respiratory infections, Autoimmune thrombocytopenia, Chronic decreased ci... OMIM:613496
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatitis, Lymphadeno... OMIM:304790
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Bronchiectasis, Eosinophilia, Increased circulating IgE level OMIM:618523
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... OMIM:300009
Congenital Myopathy 21 With Early Respiratory Failure
Elevated circulating creatine kinase concentration, Dyspnea, Lipoid pneumonia, Respiratory failur... OMIM:620326
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, B lymphoc... ORPHA:221139
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec... OMIM:301045
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Severe short stature, Growth delay, Respiratory failure, Aspiratio... OMIM:619057
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Cardiac conduction abnormality, Pneumonia, Respiratory... ORPHA:97244
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema OMIM:178400
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Sepsis In Premature Infants
Tachycardia, Small for gestational age, Splenomegaly, Leukocytosis, Anemia, Bradycardia, Hypotens... ORPHA:90051
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Decreased circulating antibody level ORPHA:1116
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... OMIM:604571
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Recurrent respiratory infections, Decreased proportion of marginal zone B cells, Au... OMIM:619375
Cyclic Neutropenia
Cyclic neutropenia, Respiratory tract infection, Perianal abscess, Cervical lymphadenopathy, Peri... ORPHA:2686
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Small for gestational age, Normochromic anemia, Bradycardia, Hypert... OMIM:618775
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Growth delay, Th... OMIM:614727
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona... ORPHA:133
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Reduced natural killer cell activ... OMIM:603553
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocy... ORPHA:100026
Pseudo-Torch Syndrome 3
Apnea, Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, R... OMIM:618886
Nephronophthisis
Anemia ORPHA:655
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Junctional Epidermolysis Bullosa Inversa
Anemia, Gastrointestinal inflammation ORPHA:79405
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... OMIM:615190
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ... ORPHA:289157
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Igg4-Related Aortitis
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Asthma, ... ORPHA:449400
Aspergillosis
Sinusitis, Eosinophilia, Pneumonia, Cough, Hypersensitivity pneumonitis, Dyspnea, Increased circu... ORPHA:1163
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Peeling Skin Syndrome 1
Asthma, Increased circulating IgE level, Short stature, Eosinophilia OMIM:270300
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Firs... OMIM:615344
Graft Versus Host Disease
Skeletal muscle atrophy, Myositis, Fasciitis, Gastrointestinal inflammation, Vomiting, Acute hepa... ORPHA:39812
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Failure to thrive, Bradycardia, Cardiac arrest OMIM:618235
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... ORPHA:158048
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... OMIM:175500
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... ORPHA:264675
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... OMIM:275350
Femoral-Facial Syndrome
Short femur, Micrognathia, Abnormal fibula morphology, Coxa vara, Abnormal pelvic girdle bone mor... ORPHA:1988
Ebola Hemorrhagic Fever
Acute pancreatitis, Dyspnea, Hepatitis, Leukopenia, Increased circulating antibody level, Cough, ... ORPHA:319218
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... OMIM:618849
Moynahan Syndrome
Cachexia ORPHA:2574
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Respiratory insufficiency, Anemia, Pulmonary ... OMIM:617021
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia ORPHA:93941
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytope... OMIM:603585
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Drug-Induced Lupus Erythematosus
Decreased circulating complement C4 concentration, Elevated circulating creatine kinase concentra... ORPHA:231111
Asthma, Short Stature, And Elevated Iga
Asthma, Short stature, Increased circulating IgA level OMIM:208600
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Dyspnea, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thromboc... ORPHA:54057
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Majeed Syndrome
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic mi... ORPHA:77297
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ... OMIM:616860
Congenital Myopathy 14
Respiratory insufficiency due to muscle weakness, Respiratory failure, Abnormal circulating creat... OMIM:618414
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... OMIM:619381
Hereditary Folate Malabsorption
Recurrent respiratory infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased cir... ORPHA:90045
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level,... OMIM:618165
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... ORPHA:64743
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Short stature, Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulatin... OMIM:615139
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Stuve-Wiedemann Syndrome 2
Respiratory distress, Intrauterine growth retardation, Pulmonary arterial hypertension, Thrombocy... OMIM:619751
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Rhabdoid Tumor
Hypercalcemia, Respiratory insufficiency, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombo... ORPHA:69077
Combined Oxidative Phosphorylation Deficiency 28
Increased serum pyruvate, Respiratory failure OMIM:616794
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno... OMIM:210250
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Increased circulating IgE level, Recurrent pneu... OMIM:147060
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Short stature, Splenomegaly, Thrombocytopenia OMIM:231000
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Growth delay, Anemia OMIM:611490
Immunodeficiency 61
Recurrent respiratory infections, Decreased circulating IgG4 level, Agammaglobulinemia, Decreased... OMIM:300310
Multiple Myeloma
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... ORPHA:29073
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Simple Cryoglobulinemia
Viral hepatitis, Monoclonal elevation of circulating IgA, Abnormal lung morphology, Paraproteinem... ORPHA:91139
Microlissencephaly
Pneumonia ORPHA:1083
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Short stature, Elevated circulating C-reactive protein concentration, Microcytic anemia, Asthma, ... OMIM:619750
Congenital Rubella Syndrome
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Anemia, Intrauterine growth retardation, Abn... ORPHA:290
Ataxia-Telangiectasia
Recurrent respiratory infections, Short stature, Abnormal testis morphology, Polycystic ovaries, ... ORPHA:100
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Abnormal circulating inter... ORPHA:70578
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia OMIM:611283
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Cryoglobulinemia, Epistaxis, Abnormality of neutrophils, Splenom... ORPHA:33226
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenop... ORPHA:39041
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Late-Onset Junctional Epidermolysis Bullosa
Anemia, Gastrointestinal inflammation ORPHA:79406
Caffey Disease
Joint hypermobility, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowi... OMIM:114000
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis OMIM:614480
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly, Anemia, Dyspnea ORPHA:75563
Hemochromatosis, Type 3
Cardiomyopathy, Lymphopenia, Anemia, Neutropenia OMIM:604250
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... OMIM:300367
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis OMIM:260570
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Perianal abscess, Leukocytosis, Increased circulating IgE level... OMIM:618213
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... OMIM:614328
Tyrosinemia Type 1
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Bronchitis, Pneumo... ORPHA:125
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, Fetal ascites, Bone-marrow foam cells, Splenomegaly,... OMIM:607625
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Hepatic fibrosis, Cough, Intrauterine growth retardation, Decreased cir... OMIM:620005
Relapsing Fever
Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Leukocytosis, Jau... ORPHA:91547
Cronkhite-Canada Syndrome
Splenomegaly, Cachexia, Anemia, Hepatomegaly ORPHA:2930
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Chilblain Lupus
Asthma, Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Recurrent respiratory infections, Coxa valga... ORPHA:2484
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Mevalonic Aciduria
Normocytic hypoplastic anemia, Short stature, Elevated circulating creatine kinase concentration,... OMIM:610377
Wt Limb-Blood Syndrome
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia OMIM:194350
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Edema OMIM:154800
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating copper concentration, Sp... OMIM:300972
Isovaleric Acidemia
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Achondroplasia
Brachydactyly, Radial bowing, Short femur, Limited hip extension, Rhizomelia, Bowing of the legs,... OMIM:100800
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Abnormal pulmonary i... OMIM:230800
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Pleuritis, Leukopenia OMIM:152700
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonary interstitial... OMIM:612387
Icf Syndrome
Recurrent respiratory infections, Short stature, Abnormality of neutrophils, Decreased circulatin... ORPHA:2268
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Failure to thrive, Hepatic cysts OMIM:618999
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... OMIM:214500
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Yellow Nail Syndrome
Recurrent respiratory infections, Renal neoplasm, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of... ORPHA:662
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Galactosemia Iii
Splenomegaly, Jaundice, Failure to thrive, Hepatomegaly OMIM:230350
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Respiratory insuffi... OMIM:615512
Hypercholanemia, Familial 1
Fat malabsorption, Increased serum bile acid concentration, Steatorrhea OMIM:607748
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure, Short stature OMIM:600561
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:613313
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Hypercalcemia, Anemia, Ascites, Thrombocytopenia ORPHA:2123
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Ascites, Anemia ORPHA:1046
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Failure to thrive, Bradycardia OMIM:619048
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... OMIM:618063
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage ORPHA:90308
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613807
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Prolonged prothrombin time, Epistaxis OMIM:610842
High Altitude Pulmonary Edema
Leukocytosis, Pulmonary edema ORPHA:330012
Cholesteryl Ester Storage Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:278000
Self-Improving Dystrophic Epidermolysis Bullosa
Anemia, Gastrointestinal inflammation ORPHA:79411
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... OMIM:616037
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal immunoglobulin level, Bilateral cryptorchidism, Dyspnea, Disproportionate ... OMIM:242900
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh... ORPHA:545
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Spondylometaphyseal Dysplasia, Pagnamenta Type
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Shor... OMIM:619638
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... OMIM:614935
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Atelosteogenesis, Type I
Polyhydramnios, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypopl... OMIM:108720
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Growth delay, Respir... ORPHA:3240
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss ORPHA:411593
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Pulmonary embolism, Decreased circulating antibody level, Growth delay, Iron defici... OMIM:226300
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Epistaxis, Splenomegaly,... OMIM:612840
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Splenomegaly, Leukocytos... OMIM:259720
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Sézary Syndrome
Hepatomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Splenomegaly, Lymphadeno... ORPHA:3162
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... OMIM:613193
Noonan Syndrome 12
Lymphopenia, Decreased response to growth hormone stimulation test, Thrombocytopenia OMIM:618624
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thr... ORPHA:88
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Proteus Syndrome
Splenomegaly, Mandibular hyperostosis, Hypertrophy of skin of soles, Calvarial hyperostosis, Faci... OMIM:176920
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... OMIM:209920
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Abnormal... ORPHA:70588
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Mild postnatal growth retardation, Anemia of ina... OMIM:224120
Rothmund-Thomson Syndrome Type 2
Osteopenia, Aplastic anemia, Facial edema, Patellar hypoplasia, Neutropenia, Short phalanx of fin... ORPHA:221016
Pulmonary Blastoma
Weight loss ORPHA:64741
Autosomal Recessive Primary Microcephaly
Pachygyria, Gray matter heterotopia, Abnormal cortical bone morphology ORPHA:2512
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... ORPHA:85184
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Hypoplasia of the ulna, Plantar hype... ORPHA:2909
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Tachypnea, Hyperhomocystinemia, Growth... OMIM:614857
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, ... OMIM:620010
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonary arterial hyp... OMIM:106700
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Decreased circulating anti... OMIM:601495
Systemic Capillary Leak Syndrome
Pleural effusion, Leukocytosis, Pedal edema, Pulmonary edema ORPHA:188
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Cough, Abnorm... ORPHA:77260
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Elevated circulating creatinine concentration,... ORPHA:542323
Lujo Hemorrhagic Fever
Shock, Myocarditis, Leukocytosis, Subconjunctival hemorrhage, Leukopenia, Bradycardia, Hypotensio... ORPHA:319213
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Increased circulating interferon-gamma concentration OMIM:612952
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Fetal ascites, Leukocytosis, Hepatitis, Cho... ORPHA:292
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Hematochezia, Gingival bleeding, Ecchymosis, Bruising suscept... OMIM:203300
Propionic Acidemia
Hepatomegaly, Pancytopenia, Short stature, Apnea, Tachypnea, Hyperammonemia, Anemia, Hyperglycine... OMIM:606054
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stool... OMIM:619868
Pulmonary Hypertension, Primary, 2
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni... OMIM:615342
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Multiple pulmonary cysts, Pulmonary cyst, Abscess, ... ORPHA:400
Sandifer Syndrome
Torticollis, Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagit... ORPHA:71272
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Tachypnea, Respiratory failure, Abnormal circul... OMIM:615838
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Anemia, Neutropenia, Thrombocytopenia OMIM:617475
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Short metacarpal, Plantar hyperkerat... ORPHA:221008
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Mednik Syndrome
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Ab... ORPHA:171851
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Preeclampsia
Elevated circulating creatinine concentration, Polycystic ovaries, Abnormality of the hepatic vas... ORPHA:275555
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eosinophilia, Recurrent pneumonia, Increased circulating IgE le... OMIM:618282
Hepatic Veno-Occlusive Disease
Respiratory failure, Increased total bilirubin ORPHA:890
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Colitis, Anoperi... OMIM:613960
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain... OMIM:249100
Aredyld Syndrome
Splenomegaly, Cachexia, Hepatomegaly ORPHA:1133
Diamond-Blackfan Anemia 9
Growth delay, Anemia OMIM:613308
Rift Valley Fever
Jaundice, Hepatitis, Anemia, Increased circulating IgG level, Increased circulating IgM level, Th... ORPHA:319251
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Increased circulating interleukin 6 concentration, Epistaxis, Ele... OMIM:614034
Snakebite Envenomation
Hyponatremia, Epistaxis, Respiratory failure, Respiratory paralysis, Hypopituitarism, Thrombocyto... ORPHA:449285
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Mcdonough Syndrome
Cryptorchidism, Cachexia ORPHA:2471
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Growth delay, Respiratory failure, Bone marrow hypocellularity, Infection associate... ORPHA:445038
Immunodeficiency 67
Transient neutropenia, Liver abscess, Increased circulating IgE level OMIM:607676
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Scedosporiosis
Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... ORPHA:449280
Acute Promyelocytic Leukemia
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Leukocytosis, Lymphadenop... ORPHA:520
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Dyspnea, Hepatic necrosis, Anemia, Leukopenia, Interstitial pneumonitis, Increas... OMIM:127550
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia OMIM:618313
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory failure, Elevated circulating creatine kinase concentration, Respiratory insufficiency ORPHA:370968
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Crackles, Mediastinal lymphadenopathy, Leukocytosis, Atelectasis, Dyspnea, Bronchie... OMIM:620233
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia, Thrombocytopenia OMIM:617397
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... ORPHA:440354
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Anemia, Gastrointestinal inflammation ORPHA:79409
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... OMIM:619463
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Hypoalbuminemia, Decreased liv... ORPHA:79319
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Vitamin B12-Responsive Methylmalonic Acidemia
Hyperammonemia, Respiratory insufficiency, Anemia ORPHA:28
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Short stature, Cryptorchidism, Growth delay, Leukopenia, Bone marr... OMIM:613990
Multiple Epiphyseal Dysplasia Type 4
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... ORPHA:93307
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Bradycardia OMIM:616276
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss, Bone marrow hypocellularity ORPHA:391
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Pachydermoperiostosis
Osteomyelitis, Edema, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Small... ORPHA:2796
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Impaired T cell f... OMIM:614576
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Osteoarthritis, Hypertension, Hypertrophic cardiomy... ORPHA:1345
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia OMIM:600546
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... ORPHA:210110
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... ORPHA:93333
Nemaline Myopathy 8
Respiratory failure OMIM:615348
Riddle Syndrome
Generalized lymphadenopathy, Short stature, Pneumonia, Bronchitis, Elevated circulating alpha-fet... ORPHA:420741
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Increased circulating interferon-gamma concentration, Respi... ORPHA:563
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of the gallbladder, H... ORPHA:171
Letterer-Siwe Disease
Dyspnea, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia OMIM:246400
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy, Hypoalbu... ORPHA:79327
Dengue Fever
Hepatomegaly, Epistaxis, Cardiorespiratory arrest, Leukopenia, Ascites, Hypoproteinemia, Thromboc... ORPHA:99828
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... OMIM:144750
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis, Anemia ORPHA:298
Tick-Borne Encephalitis
Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Increased circul... ORPHA:297
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Myelodysplasia, Bronchiectasis, Recurrent upper respiratory tract infections OMIM:608184
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectasis, Recurrent upper re... ORPHA:51636
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Short stature, Splenomegaly, Recurrent pneumonia, Disproportionate short-trunk short ... OMIM:602271
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly OMIM:273680
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Pfapa Syndrome
Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:42642
Trichothiodystrophy 3, Photosensitive
Short stature, Increased circulating IgA level, Bilateral cryptorchidism, Abdominal adhesions, Ne... OMIM:616395
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Short stature, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Hy... ORPHA:172
Thyrocerebrorenal Syndrome
Euthyroid goiter, Thrombocytopenia ORPHA:3327
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Wild Type Attr Amyloidosis
Pleural effusion, Abnormal pulmonary interstitial morphology, Pedal edema, Pulmonary edema ORPHA:330001
Ige Responsiveness, Atopic
Asthma, Increased circulating IgE level, Allergic rhinitis OMIM:147050
Stt3B-Cdg
Respiratory distress, Cryptorchidism, Thrombocytopenia, Intrauterine growth retardation ORPHA:370924
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Elevated circulating creatine kinase concentration, Epistaxis... OMIM:185070
Hypophosphatasia
Short stature, Hypercalcemia, Respiratory insufficiency, Emphysema, Anemia ORPHA:436
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating creatine kinase concentration, Hyperamylasemia, Respiratory failure, Hypergl... OMIM:619386
Adult-Onset Still Disease
Hepatomegaly, Abnormal circulating lipid concentration, Generalized lymphadenopathy, Neutrophilia... ORPHA:829
Autoimmune Hepatitis
Viral hepatitis, Acute hepatitis, Splenomegaly, Fulminant hepatitis, Jaundice, Sclerosing cholang... ORPHA:2137
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short stature, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulocytopenia,... ORPHA:508542
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Decreased circulating complement C3 concen... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Decreased circulating complement C3 concen... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Decreased circulating complement C3 concen... OMIM:612926
Netherton Syndrome
Villous atrophy, Recurrent skin infections, Eczema, Allergic rhinitis, Increased circulating IgE ... OMIM:256500
Schimke Immuno-Osseous Dysplasia
Short stature, Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Hyperl... ORPHA:1830
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Epistaxis, Autoimmune thrombocytopenia, Joint hemorrhage, Intracrani... ORPHA:324636
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... ORPHA:263665
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Splenomegaly, Abnormal pulmonary in... ORPHA:77261
Diamond-Blackfan Anemia 16
Anemia OMIM:617408
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Abetalipoproteinemia
Fat malabsorption, Abetalipoproteinemia, Acanthocytosis OMIM:200100
Spastic Paraplegia 84, Autosomal Recessive
Hip contracture, Ankle flexion contracture, Knee flexion contracture, Crohn's disease, Leg muscle... OMIM:619621
Lysinuric Protein Intolerance
Hepatomegaly, Short stature, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentr... OMIM:222700
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Cryptorchidism, Thrombocytopenia, Intrauterine growth retardation OMIM:615597
Q Fever
Cryoglobulinemia, Hepatomegaly, Respiratory distress, Pneumonia, Splenomegaly, Hepatitis, Abnorma... ORPHA:781
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Tuberculosis
Weight loss ORPHA:3389
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Small for gestational age, Abnormal T cell morphology OMIM:215250
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Asthma, Hepatosplenomegaly, Ane... OMIM:606003
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart mu... ORPHA:2038
Cog4-Cdg
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Growth delay, Cirrhosis, Hyperc... ORPHA:263501
Sengers Syndrome
Growth delay, Pulmonary arterial hypertension, Respiratory insufficiency, Thrombocytopenia OMIM:212350
Thiamine-Responsive Megaloblastic Anemia Syndrome
Short stature, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... OMIM:620197
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Failure to thrive, Ne... ORPHA:79301
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Elevated circulating creatine kinase concentration, Respira... ORPHA:168486
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, F... OMIM:617952
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity ORPHA:98827
Coccidioidomycosis
Respiratory distress, Abscess, Eosinophilia, Pneumonia, Abnormality of the spleen, Mediastinal ly... ORPHA:228123
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Growth delay, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocy... OMIM:613987
Castleman Disease
Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Abdominal mass, E... ORPHA:160
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... ORPHA:199241
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Hyperammonemia, Leukopenia, Hyperglyc... OMIM:251000
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... ORPHA:288
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Pontocerebellar Hypoplasia, Type 4
Respiratory failure OMIM:225753
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Renal hypophosphatemia, Osteoma... ORPHA:1652
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Cholestasis, Anemia,... ORPHA:398124
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Obesity, Orthostatic hypotension due to auto... ORPHA:66628
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Thrombocytopenia, Abdominal distention, Elevated circulating creatinine concentra... OMIM:608104
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Decreased circulating complement C3 concen... OMIM:612925
Ataxia-Telangiectasia
Decreased circulating IgG level, Sinusitis, Short stature, Elevated circulating alpha-fetoprotein... OMIM:208900
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Cryptorchidism, Respiratory failure OMIM:611890
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Leukopenia, Increased circulating IgG level, ... ORPHA:99827
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile duct morphology, Sclerosing ch... ORPHA:562639
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Short stature, Thiamine-responsive megaloblastic anemia, Cryptorchidism, Th... OMIM:249270
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... OMIM:300751
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Failure to thrive, Small for gestational age, Bradycardia OMIM:614702
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Decreased circulating complement factor B concentration, Hyperlipidemia, Schisto... OMIM:235400
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro... ORPHA:508533
Mirage Syndrome
Hyponatremia, Short stature, Cryptorchidism, Hyperkalemia, Anemia, Leukopenia, Aspiration pneumon... OMIM:617053
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Abdominal distention, Diarrhea, Steatorrhea, EMG: myopathic... ORPHA:71
Hyperekplexia 4
Respiratory failure OMIM:618011
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Diarrhea, Vomiting, Protein-losing enteropathy, Hypoalbuminemia, Steatorrhea, He... OMIM:602579
Thrombocytopenia 1
Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate... OMIM:313900
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... OMIM:210710
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Immunodeficiency 35
Recurrent respiratory infections, Increased circulating IgE level OMIM:611521
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... OMIM:259600
Laryngeal Neuroendocrine Tumor
Weight loss, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess ORPHA:100083
Lassa Fever
Dyspnea, Increased circulating IgM level, Jaundice, Cough ORPHA:99824
Niemann-Pick Disease, Type A
Recurrent respiratory infections, Hepatomegaly, Failure to thrive, Bone-marrow foam cells, Microc... OMIM:257200
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... ORPHA:66529
Alg6-Cdg
Decreased LDL cholesterol concentration, Feeding difficulties, Macroglossia, Protein-losing enter... ORPHA:79320
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L... ORPHA:470
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Short stature, Anemia, Bone marrow hypocellularity, Intrauterine g... ORPHA:3322
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... ORPHA:760
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia ORPHA:40366
Farber Lipogranulomatosis
Splenomegaly, Lipogranulomatosis, Failure to thrive, Hepatomegaly OMIM:228000
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Obesity, Orthostatic hypotension due to auto... ORPHA:179494
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Short stature, Leukopenia, Hepatic fibrosis, Bone marrow hypocellu... OMIM:613989
Focal Segmental Glomerulosclerosis 1
Pleural effusion, Hypoalbuminemia, Anemia, Hyperlipidemia OMIM:603278
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Short stature, Abnormality of thrombocytes, Anemia ORPHA:3204
Pediatric Systemic Lupus Erythematosus
Dyspnea, Lymphadenopathy, Leukopenia, Ascites, Decreased circulating complement C3 concentration,... ORPHA:93552
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Respiratory distress, Hyperammonemia, Anemia,... OMIM:251110
Christianson Syndrome
Cachexia ORPHA:85278
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... ORPHA:167
Legionnaires Disease
Hyponatremia, Abnormal pleura morphology, Splenomegaly, Jaundice, Abnormal lung morphology, Recur... ORPHA:549
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Failure to thrive, Bradycardia, Atrioventricular block OMIM:614407
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Lymphocytic interstitial pneumonia OMIM:247610
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Abnormal circulating A-type atrial natriuretic pep... ORPHA:57777
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Igg4-Related Submandibular Gland Disease
Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Increased ... ORPHA:449432
Formiminoglutamic Aciduria
Abnormal circulating histidine concentration, Anemia, Megaloblastic anemia ORPHA:51208
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Steatorrhea, Acholic... OMIM:607765
Neuroleptic Malignant Syndrome
Tachycardia, Hypertensive crisis, Pulmonary embolism, Leukocytosis, Hypertension, Bradycardia, Hy... ORPHA:94093
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... ORPHA:60025
Kaposiform Lymphangiomatosis
Epistaxis, Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Abnormality of the lymphatic... ORPHA:464329
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... OMIM:613839
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,... ORPHA:37042
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Hyperpepsinogenemia I, Duodenal ulcer OMIM:126840
Renpenning Syndrome
Decreased testicular size, Cachexia ORPHA:3242
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Enla... ORPHA:79078
Primary Biliary Cholangitis
Increased circulating IgA level, Celiac disease, Conjugated hyperbilirubinemia, Abdominal distent... ORPHA:186
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Growth delay, Co... ORPHA:2414
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic steatosis, Cachexia, Cardiomegaly ORPHA:42
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Short stature, Autoimmune thrombocytopenia, Recurrent upper respirat... ORPHA:391487
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula... ORPHA:449427
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Elevated circulating C-reactive prot... ORPHA:324964
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Splenomegaly, Bradycardia, Failure to th... OMIM:613327
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... OMIM:607634
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Coxa valga, Splenomegaly, Patent ductus arteriosus, Hypoplastic vertebral bodies... OMIM:230600
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Failure to thrive ORPHA:275
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Hepatocellular carcinoma, Fat malabsorption OMIM:601847
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Hyperalaninemia, Respiratory failure, Apneic episodes precipitated by i... OMIM:312170
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter OMIM:274240
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... OMIM:616828
Duodenal Ulcer, Hyperpepsinogenemic I
Hyperpepsinogenemia I, Duodenal ulcer OMIM:126850
Mgat2-Cdg
Abnormal bleeding, Decreased circulating IgG level, Impaired platelet aggregation, Decreased circ... ORPHA:79329
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal circulating lipid concentration, Pneumonia, Decreased circulating comp... ORPHA:2298
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia OMIM:614520
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Elevated circulating creatinine concentration, Hyperuricemia, Neutropenia, Intraut... OMIM:617056
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Postnatal growth retardation, Increased circulating IgE level, Short stature, Delayed puberty OMIM:618985
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pain, Gastrointestinal dysmotility... ORPHA:67
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Tibial Muscular Dystrophy
Respiratory failure, Mildly elevated creatine kinase ORPHA:609
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Respiratory distress, Short stature, Neonatal... OMIM:260400
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... ORPHA:79128
Wells Syndrome
Eosinophilia ORPHA:901
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Roifman Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy OMIM:616651
Erythrocytosis, Familial, 1
Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion... OMIM:133100
Ogden Syndrome
Microretrognathia, Peripheral pulmonary artery stenosis, Congenital hip dislocation, Broad hallux... OMIM:300855
Multiple Mitochondrial Dysfunctions Syndrome 3
Intrauterine growth retardation, Respiratory failure, Hyperglycinemia, Respiratory insufficiency OMIM:615330
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... ORPHA:249
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Chronic rhinitis due to n... OMIM:259710
Hydrops Fetalis, Nonimmune
Anemia OMIM:236750
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... ORPHA:3243
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Reduced vital capacity, Respiratory failure, Elevated circulating creatine kinase concentration, ... OMIM:603689
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Thymoma
Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte proliferation, Abnormal lymphocyte ph... ORPHA:99867
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Rheumatoid a... ORPHA:95459
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent upper respiratory tract infections, Recurrent pneumonia, B... OMIM:614868
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Growth delay, Respiratory failure, Hype... OMIM:245400
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Hyperammonemia, Growth delay, Thrombocytopenia ORPHA:79242
Dyskeratosis Congenita, Digenic
Short stature, Decreased circulating total IgM, Intrauterine growth retardation, Decreased circul... OMIM:620040
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia, Respiratory insufficiency, Respirato... OMIM:602088
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin... OMIM:612714
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Reduced bone mineral density, Agammaglobulinemia, Long fibula, ... ORPHA:935
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Fanconi Anemia, Complementation Group F
Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, ... OMIM:603467
Bloom Syndrome
Elevated hemoglobin A1c, Postnatal growth retardation, Cryptorchidism, Recurrent upper respirator... OMIM:210900
Lead Poisoning
Decreased HDL cholesterol concentration, Asthma, Increased circulating IgE level, Imbalanced hemo... ORPHA:330015
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pn... OMIM:230900
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic... OMIM:615710
Amyloidosis, Hereditary, Transthyretin-Related
Pulmonary edema OMIM:105210
Alveolar Echinococcosis
Liver abscess, Pulmonary cyst, Eosinophilia, Cholangitis, Portal hypertension, Pancreatic cysts, ... ORPHA:284
Glycogen Storage Disease Ixb
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Hyperuricemia, Increased hepatic glycoge... OMIM:261750
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Severe B lymphocytopenia, Decreased response to growth hormone stimulation test, Au... ORPHA:293978
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Eosinophilia, Atelectasis, Increased circulating IgE level, Cough ORPHA:2314
Immunodeficiency 77
Chronic pulmonary obstruction, Bronchiectasis, Cutaneous abscess OMIM:619223
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Weight loss ORPHA:2023
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Bronchitis, Nonproductive cough, Leukopenia, Decreas... ORPHA:289390
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Tach... ORPHA:71275
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Medias... OMIM:181000
Yellow Fever
Acute pancreatitis, Neutrophilia, Increased circulating interleukin 6 concentration, Elevated cir... ORPHA:99829
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otitis media, C... OMIM:244400
Marburg Hemorrhagic Fever
Shock, Lymphopenia, Reticulocytosis, Tachycardia, Pericarditis, Neutrophilia in presence of infec... ORPHA:99826
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... ORPHA:300298
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Whipple Disease
Hepatomegaly, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Anemia ORPHA:3452
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
Trichohepatoenteric Syndrome 2
Villous atrophy, Decreased serum iron, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepat... OMIM:614602
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... ORPHA:514
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... ORPHA:99105
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatos... OMIM:260920
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Congenital Myopathy 10B, Mild Variant
Elevated circulating creatine kinase concentration, Reduced forced vital capacity, Recurrent pneu... OMIM:620249
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure, Elevated circulating creatine kinase concentration ORPHA:75840
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Respiratory... OMIM:220110
Smith-Kingsmore Syndrome
Cryptorchidism, Rhizomelia, Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280785
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Wiskott-Aldrich Syndrome
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Petechiae, Epistaxis, Hematemesis, ... ORPHA:906
Familial Isolated Restrictive Cardiomyopathy
Orthopnea, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Suprav... ORPHA:75249
Wilson Disease
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Anemia, Cirrhosis, Acute hepatitis, Hepatic stea... ORPHA:905
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis, Pneumothorax, Weight loss ORPHA:1302
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Elevated circulat... ORPHA:352447
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, Hepatosplenomegaly, Hypocalcemia... OMIM:612526
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Cinca Syndrome
Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-rea... ORPHA:1451
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Riddle Syndrome
Decreased circulating IgG level, Short stature, Pulmonary fibrosis OMIM:611943
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Pulmonary edema, Microangi... ORPHA:244242
Mungan Syndrome
Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Abdominal pain,... OMIM:611376
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis, Epididymitis,... ORPHA:183675
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Hydrocele testis, Lymphopenia OMIM:605309
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis OMIM:618648
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Foot oligodactyly, Amelia OMIM:601357
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Bowing of the long bones, Camptodactyly of finger, Rec... ORPHA:3206
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sinusitis, Short stature, Recurrent bronchitis, Dysgammaglobulinemia... OMIM:251260
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentrat... OMIM:274150
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Exertional ... OMIM:265400
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Hy... ORPHA:2330
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia, Anemia ORPHA:371
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Melioidosis
Shock, Foot osteomyelitis, Lung abscess, Pneumonia, Respiratory tract infection, Osteoarthritis, ... ORPHA:31202
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... OMIM:618131
Farber Disease
Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Short stature, Nodular pat... ORPHA:333
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Pneumonia, Right ventricular failure, Dyspnea, Nonproductive cough, Asth... ORPHA:97287
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Elevated circulating creatine kinase concentration OMIM:613954
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Short stature, Megaloblastic anemia, Hyperhom... OMIM:277380
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Bifid femur, Increased susceptibility to fr... ORPHA:2769
Immune Thrombocytopenia
Epistaxis, Thrombocytopenia ORPHA:3002
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Abdominal pain, High, narrow palate, Rectal prola... ORPHA:79076
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Recurrent viral upper respiratory tract in... OMIM:615577
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Short stature, Portal hypertension, Cough, Tachypnea, Abnormal pulmonary interstiti... OMIM:613658
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Respiratory distress, Hyperammonemia, Anemia,... OMIM:251100
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Lymphadenopathy, Restrictive ventilatory defect... ORPHA:2905
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Splenomegaly, Pulmonary fibrosis OMIM:612852
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona... ORPHA:98913
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly OMIM:618107
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome... OMIM:251880
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... OMIM:601005
Overlap Myositis
Elevated circulating creatine kinase concentration, Abnormal pulmonary interstitial morphology, L... ORPHA:206572
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Adult-Onset Nemaline Myopathy
Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Paraproteinemia, Mildly... ORPHA:171442
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Restrictive ventilatory defect, Respiratory failure, Elevated circulating creatine kinase concent... OMIM:606612
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Enter... OMIM:307200
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Peripheral edema, Pleural effusion, Ascites, Generalized edema ORPHA:64739
Alg12-Cdg
Hyponatremia, Recurrent respiratory infections, Partial absence of specific antibody response to ... ORPHA:79324
Shigellosis
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Par... ORPHA:810
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea, Respiratory insufficiency, Respiratory failure, Hyperglycinemia OMIM:614299
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Anemia, Gastrointestinal inflammation ORPHA:79410
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Decreased mean platelet volume OMIM:273900
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Intestinal malrotation, Duodenal stenosis ORPHA:1759
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Abdominal pain, Intestinal perforation, Thrombocytopenia, Rectal p... ORPHA:90038
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concen... OMIM:256040
Beemer-Ertbruggen Syndrome
Respiratory insufficiency, Thrombocytopenia ORPHA:1237
Al Amyloidosis
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive c... ORPHA:85443
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Macs Syndrome
Prolonged bleeding time, Bruising susceptibility OMIM:613075
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Cryptorchidism, Hyperammonemia, Growth delay, Respiratory failure, Intrauterine gro... ORPHA:1194
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Elevated circulating creatine kinase concentration, Atelectasis, Pulmonary fibrosis, Bronchioliti... ORPHA:254361
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura ORPHA:809
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Protein-losing enteropathy, Feeding difficulties OMIM:618154
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Recurrent bronchiolitis, Increased circulating IgE level OMIM:616069
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
3-Methylglutaconic Aciduria, Type Viii
Failure to thrive, Bradycardia, Neutropenia OMIM:617248
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Pneumothorax, Abnormal circulating ceruloplasmin concentration, Talipes equinovarus,... OMIM:620306
Acute Radiation Syndrome
Interstitial pneumonitis, Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... ORPHA:157794
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Short stature, Thrombocytopenia OMIM:616577
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Sinusitis, Atypical or p... ORPHA:83471
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Thrombocytopenia, Leukocytosis, Hyp... ORPHA:340
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea ORPHA:2759
Intermediate Nemaline Myopathy
Respiratory failure ORPHA:171433
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Tetrasomy 12P
Cachexia ORPHA:884
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia OMIM:259700
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased prealbumin level, Reduced circulating transferrin con... ORPHA:90363
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function, Splenomegaly, Patent ductus arteriosu... ORPHA:30
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Iga Pemphigus
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous... ORPHA:555905
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... ORPHA:449395
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Decreased ... OMIM:617718
Neuraminidase Deficiency
Hepatomegaly, Short stature, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymph... OMIM:256550
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level, Short stature ORPHA:1858
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Pancreatic steatosis, Throm... OMIM:617052
Neonatal Alloimmune Neutropenia
Pneumonia ORPHA:464370
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Interstitial Lung And Liver Disease
Hepatomegaly, Dyspnea, Intraalveolar phospholipid accumulation, Cholestasis, Abnormal pulmonary i... OMIM:615486
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Respiratory failure, Cirrhosis, Hepatic steatosis ORPHA:363400
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia... OMIM:608013
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypoparathyroidism, Hepatosplenomeg... ORPHA:231226
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade... ORPHA:231214
Lysosomal Acid Lipase Deficiency
Failure to thrive, Bone-marrow foam cells, Cachexia, Hypersplenism, Microvesicular hepatic steato... ORPHA:275761
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Ethylene Glycol Poisoning
Hyperkalemia, Renal tubular epithelial necrosis, Hypocalcemia, Cerebral edema, Pulmonary edema ORPHA:31826
Pediatric-Onset Graves Disease
Hepatomegaly, Splenomegaly, Jaundice, Neonatal asphyxia, Neutropenia in presence of anti-neutropi... ORPHA:525731
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Tachycardia, Congestive heart failure ORPHA:90037
Amyloidosis, Familial Visceral
Splenomegaly, Cholestasis, Hepatomegaly OMIM:105200
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Feeding difficulties, Gastroesophageal reflux, Esophagitis, Hyposerinemia ORPHA:79350
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Pes planus, Short femur, Talipes, Polyhydramnios, Micrognathia, Patent ductus arteriosus, Anemia,... OMIM:300990
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Growth delay, Hyperuricemia, Hypercholesterolemia OMIM:306000
Acquired Purpura Fulminans
Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb... ORPHA:49566
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentratio... OMIM:611881
Congenital Fibrinogen Deficiency
Abnormal bleeding, Prolonged prothrombin time, Abnormal umbilical stump bleeding, Gingival bleedi... ORPHA:335
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentr... OMIM:615688
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Volvulus, Intussusception, Thromboc... OMIM:112200
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Short stature ORPHA:66518
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Short stature, Portal hypertension,... OMIM:613385
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Rhizomelia, Recurrent pneumonia, Growth delay, Leukopenia, Neutropenia, Int... OMIM:616271
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... OMIM:155310
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Pulmonar... ORPHA:464343
Liver Disease, Severe Congenital
Hyponatremia, Joint laxity, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Micr... OMIM:619991
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Pneumonia, Splenomegal... OMIM:615846
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Congenital laryngeal stridor ORPHA:2254
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Ciliary Dyskinesia, Primary, 37
Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea OMIM:617577
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Arrhythmia, Bradycardia OMIM:609286
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Sheehan Syndrome
Orthostatic hypotension, Obesity, Normochromic anemia, Palpitations, Bradycardia ORPHA:91355
Cardiomyopathy, Familial Hypertrophic, 4
Pericardial effusion, Ascites, Pulmonary edema OMIM:115197
Immunodeficiency 56
Recurrent respiratory infections, Cholangitis, Recurrent pneumonia, Bronchiectasis, Recurrent sin... OMIM:615207
Congenital Dyserythropoietic Anemia Type Iii
Short stature, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, ... ORPHA:98870
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Wolfram Syndrome 1
Sideroblastic anemia, Megaloblastic anemia, Growth delay, Testicular atrophy, Thrombocytopenia OMIM:222300
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Ascites, Weight loss ORPHA:2198
Colonic Atresia
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... ORPHA:90291
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Diarrhea, Malabsorption OMIM:600955
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Chronic lymphat... ORPHA:90033
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly, Fat malabsorption, Diarrhea OMIM:211600
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia, Goiter ORPHA:83601
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure, Hepatic steatosis ORPHA:70472
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Irida Syndrome
Decreased circulating copper concentration, Abnormal intestine morphology ORPHA:209981
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Lesch-Nyhan Syndrome
Hyperuricemia, Anemia ORPHA:510
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Respi... ORPHA:77293
Lig4 Syndrome
Recurrent respiratory infections, Pancytopenia, Cryptorchidism, Asthma, Acute lymphoblastic leuke... OMIM:606593
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean OMIM:604320
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Abnormal liver sonography, Biliary tract abnormality,... ORPHA:90003
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Cachexia, Failure to thrive, Supernumerary nipple ORPHA:217346
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... OMIM:602390
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Hennekam-Beemer Syndrome
Mastocytosis, Camptodactyly of finger, Lower limb asymmetry, Micrognathia, Pneumonia, Clinodactyl... ORPHA:2135
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Abnormal immunoglobulin level OMIM:614102
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Hepatitis, Lymphadenopathy, Weight loss, Interstitial pneumonitis, Lymphocytosis ORPHA:139402
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Hepatic failure, Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia OMIM:619046
Trigonocephaly 1
High, narrow palate, Meckel diverticulum OMIM:190440
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Failure to thrive, Bradycardia OMIM:619272
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Feeding difficulties, Dysphagia, Meckel diverticulum, Poor suck, Nasogastric tube feeding ORPHA:163961
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Respiratory failure, Hyperammonemia, Intrauterine growth retardation OMIM:610678
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Small for gestational age, Supraventricular arrhythmia, Microcytic anemia ORPHA:2959
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia, Large for gestational age ORPHA:226313
Alg8-Cdg
Hyponatremia, Anemia, Intrauterine growth retardation, Ascites, Thrombocytopenia ORPHA:79325
Huntington Disease-Like 2
Weight loss ORPHA:98934
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Elevated circulating creatine kinase concentration OMIM:620166
Hurler-Scheie Syndrome
Hepatomegaly, Short stature, Abnormality of the tonsils, Splenomegaly, Rhinitis ORPHA:93476
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Anemia, Growth delay, Elevated hepatic iron concentration, Increase... OMIM:614946
Muscular Dystrophy, Duchenne Type
Hypoventilation, Elevated circulating creatine kinase concentration, Respiratory insufficiency du... OMIM:310200
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Steatorrhea, H... ORPHA:79303
Abetalipoproteinemia
Reticulocytosis, Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegaly, Acanthocyto... ORPHA:14
Fanconi Anemia, Complementation Group C
Pancytopenia, Short stature, Cryptorchidism, Reticulocytopenia, Anemia, Bone marrow hypocellulari... OMIM:227645
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Patent ductus arteriosus, Hyperbilirubinemia, Elevated circulating long c... OMIM:614886
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... ORPHA:48435
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Dyspnea, Lymphadenopathy, Pleural effusion, Restrictive ventilatory d... ORPHA:36412
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia ORPHA:75234
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Bradycardia OMIM:619814
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Hypokalemia, Respiratory failure ORPHA:330021
Glutamine Deficiency, Congenital
Bradycardia OMIM:610015
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Disproportionate short stature, Decreased circulating antibody level, Lymphopenia, ... OMIM:617425
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ... ORPHA:2357
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Fixed Subaortic Stenosis
Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Conges... ORPHA:3092
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Cryptorchidism, ... OMIM:301056
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Elevated circulating cr... ORPHA:308552
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... ORPHA:50918
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Subcutaneous hemorrhage, Pulmonary embolism ORPHA:743
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Pulmonary embolism ORPHA:745
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hematochezia, Decreased serum bile acid concentration, Hyperbilirubinemia, ... OMIM:214950
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Ecchymosis, Infectious encephali... ORPHA:36234
Fusariosis
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Productive cough, Keratitis, ... ORPHA:228119
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Cough, Neutro... ORPHA:3260
Microvillus Inclusion Disease
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea ORPHA:2290
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Crackles, Right ventricu... ORPHA:1329
Joubert Syndrome 33
Splenomegaly, Apnea OMIM:617767
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Elevated circulating creatine kinase concentration, Anemia, Card... OMIM:618838
Gaucher Disease
Hepatomegaly, Pancytopenia, Short stature, Elevated circulating C-reactive protein concentration,... ORPHA:355
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancreatitis, Decrea... OMIM:615947
Pleural Mesothelioma
Hepatomegaly, Weight loss, Lymphadenopathy ORPHA:50251
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Short stature,... ORPHA:647
Orofaciodigital Syndrome Viii
Hamartoma, Recurrent aspiration pneumonia OMIM:300484
Netherton Syndrome
Recurrent respiratory infections, Short stature, Asthma, Increased circulating IgE level, Decreas... ORPHA:634
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Neonatal respiratory distress, Apnea, Elevated circulating creatine kinase concentr... OMIM:608836
Muckle-Wells Syndrome
Hepatomegaly, Short stature, Splenomegaly, Restrictive ventilatory defect, Delayed puberty, Anemia ORPHA:575
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Vasculitis in the skin, Pneumonia ORPHA:319552
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo... ORPHA:98905
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Orch... ORPHA:449563
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, Splenomegaly, Growth delay, Bil... OMIM:613027
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Joint hypermobility, Genu valgum OMIM:617798
Syndromic Diarrhea
Hepatomegaly, Short stature, Increased mean platelet volume, Splenomegaly, Abnormality of the liv... ORPHA:84064
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Postnatal growth retardation, Elevated circulating creatinine concentration,... OMIM:620366
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Anterior pituitary dysgenesis,... ORPHA:227990
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Pulmonary fibrosis,... OMIM:224230
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M... OMIM:615508
Metatropic Dysplasia
Severe short stature, Disproportionate short-trunk short stature, Respiratory insufficiency, Resp... OMIM:156530
Glycogen Storage Disease Of Heart, Lethal Congenital
Pericardial effusion, Anasarca, Peripheral edema, Pleural effusion, Ascites, Pulmonary edema OMIM:261740
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... ORPHA:793
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure OMIM:618240
Thrombocytopenia 6
Spontaneous, recurrent epistaxis, Thrombocytopenia OMIM:616937
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia, Biliary cirrhosis,... ORPHA:227982
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... ORPHA:88618
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Elevated circulating 2-hydroxybutyric acid concentration, Respiratory ... OMIM:605711
Oculodentodigital Dysplasia
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... ORPHA:2710
Fanconi Anemia, Complementation Group E
Pancytopenia, Short stature, Cryptorchidism, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Th... OMIM:600901
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Short stature, Neutropenia, Hyperechogenic pancreas, Thrombocyto... OMIM:617941
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Decreased testicular size ORPHA:813
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Intrauterine growth retardation, Congenital adrenal hyperplasia, Thrombocytopenia ORPHA:96181
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Dyspnea, Congestive heart failu... ORPHA:275766
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia ORPHA:293173
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Short stature, Postnatal growth retardation, Anemia, Bone marrow hypocellularity, Pulmonary fibro... OMIM:612199
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Elevated ci... ORPHA:26791
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol... ORPHA:2658
Chronic Hiccup
Weight loss ORPHA:396
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... ORPHA:480520
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti... ORPHA:131
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Short humerus, Recurrent respiratory infections, Short femur, Patent duct... ORPHA:17
Martinez-Frias Syndrome
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Duoden... OMIM:601346
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Recurrent respiratory infections, Respiratory distress, S... ORPHA:209905
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Eczema, Abdominal pa... OMIM:615895
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Hypercalcemia, Anemia ORPHA:2668
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... ORPHA:699
Say-Barber-Miller Syndrome
Craniosynostosis, Micrognathia, Talipes equinovalgus, Transient hypogammaglobulinemia of infancy,... ORPHA:3132
Maternal Uniparental Disomy Of Chromosome 4
Calf muscle pseudohypertrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concent... ORPHA:96180
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration,... ORPHA:544482
Microsporidiosis
Brain abscess, Cholangitis, Cachexia, Abnormality of the spleen, Lymphadenitis, Peritonitis, Bili... ORPHA:2552
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Left ventricular hypertrophy, ... OMIM:242840
Adams-Oliver Syndrome
Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Pulmonary artery atresia... ORPHA:974
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
D-Glyceric Aciduria
Failure to thrive, Bradycardia OMIM:220120
Fanconi Anemia, Complementation Group A
Pancytopenia, Short stature, Cryptorchidism, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Th... OMIM:227650
Leigh Syndrome
Hyperalaninemia, Growth delay, Respiratory failure, Neutropenia, Intrauterine growth retardation,... ORPHA:506
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Secretory diarrhea, Decreased circulating ant... OMIM:618183
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Thrombocytopenia, Reticulo... OMIM:557000
Vexas Syndrome
Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia OMIM:301054
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Cocaine Intoxication
Pulmonary edema, Pneumothorax, Elevated circulating creatine kinase concentration, Diffuse alveol... ORPHA:90068
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary artery aneury... ORPHA:228116
Poikiloderma With Neutropenia
Short stature, Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent bronch... OMIM:604173
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Failure to thrive OMIM:235555
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Patent ductus arteriosus, Pulmonar... ORPHA:3384
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... OMIM:609015
Hennekam Syndrome
Lymphopenia, Recurrent respiratory infections, Mild postnatal growth retardation, Splenomegaly, P... ORPHA:2136
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Brain abscess, Central apnea, Severe short stature, Rhizomelia, Disproporti... OMIM:616482
Hereditary Hyperekplexia
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:3197
Listeriosis
Respiratory distress, Brain abscess, Liver abscess, Abscess, Pneumonia, Jaundice, Peritonitis, Ab... ORPHA:533
Congenital Disorder Of Glycosylation, Type Iig
Short stature, Rhizomelia, Postnatal growth retardation, Cryptorchidism, Giant platelets, Anemia,... OMIM:611209
Isaacs Syndrome
Weight loss ORPHA:84142
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased... OMIM:235200
Isolated Sedoheptulokinase Deficiency
Short stature, Portal hypertension, Neonatal asphyxia, Hepatitis, Cholestasis, Hypochromic microc... ORPHA:440713
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopath... ORPHA:85414
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Intrauterine growth retardation, Thrombocytopenia OMIM:617710
Braddock-Carey Syndrome 1
Growth delay, Thrombocytopenia OMIM:619980
Chronic Granulomatous Disease
Recurrent respiratory infections, Hepatomegaly, Liver abscess, Abnormality of neutrophils, Spleno... ORPHA:379
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Respiratory insufficiency, Highly elevated creatine kinase, Respira... ORPHA:258
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Osteomyelitis, Cardiac shunt, Pulmonary embolism, Increased pulmonary vas... ORPHA:70591
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Splenomegaly, Failure to thrive, Decreased testicular size OMIM:201100
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... ORPHA:31150
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
T lymphocytopenia, Abnormal B cell morphology, Pulmonic stenosis, Aplasia of the thymus OMIM:618223
Stevens-Johnson Syndrome
Recurrent respiratory infections, Abnormal pleura morphology, Abnormality of neutrophils, Thrombo... ORPHA:36426
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci... ORPHA:65682
Combined Oxidative Phosphorylation Deficiency 55
Short stature, Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypo... OMIM:619743
Spastic Paraplegia Type 2
Recurrent respiratory infections, Pulmonary embolism ORPHA:99015
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia, Weight loss ORPHA:221098
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Pulmonary embolism, Abnorm... ORPHA:447
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Short stature, Elevated circulating creatine kinase concentration, En... ORPHA:2785
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Toxic Epidermal Necrolysis
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Cough, Anemia... ORPHA:537
8Q24.3 Microdeletion Syndrome
Congenital hip dislocation, Micromelia, Abnormal lung lobation, Finger clinodactyly, Clinodactyly... ORPHA:508488
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Short stature, Splenomegaly, Prolonged neonatal jaundice, Thrombocytopenia OMIM:225750
Loeffler Endocarditis
Left ventricular hypertrophy, Eosinophilia, Weight loss ORPHA:75566
Congenital Myopathy 22A, Classic
Tricuspid regurgitation, Bradycardia OMIM:620351
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
Duodenal Atresia
Duodenal atresia OMIM:223400
Frank-Ter Haar Syndrome
Osteopenia, Bowing of the long bones, Micrognathia, Metatarsus adductus, Wide anterior fontanel, ... OMIM:249420
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss ORPHA:33276
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Pseudo-Torch Syndrome 1
Splenomegaly, Jaundice, Thrombocytopenia, Hepatomegaly OMIM:251290
Catel-Manzke Syndrome
Joint laxity, Short humerus, Short metacarpal, Short femur, Micrognathia, Short toe, Genu valgum,... OMIM:616145
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Tachypnea, Thrombocytopenia, Hyperventilation OMIM:253270
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia ORPHA:90036
Osteogenesis Imperfecta
Osteopenia, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contracture, Osteoarthri... ORPHA:666
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Short stature ORPHA:391307
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Cog8-Cdg
Skeletal muscle atrophy, Protein-losing enteropathy ORPHA:95428
Ivic Syndrome
Leukocytosis, Severe short stature, Thrombocytopenia ORPHA:2307
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Prolonged prothrombin ti... ORPHA:99147
Myeloma, Multiple
Paraproteinemia OMIM:254500
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Foot joint contracture, Anal fissure, Glomerulonephritis, Recurrent skin infections, Flexion cont... ORPHA:79408
Fanconi Anemia, Complementation Group B
Aplastic anemia, Abnormal lung lobation, Growth delay, Intrauterine growth retardation, Thrombocy... OMIM:300514
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Dyspnea, Primary hyperparathyroidism, Tach... OMIM:239200
Oculoskeletodental Syndrome
Hypercalcemia, Cryptorchidism, Splenomegaly, Elbow flexion contracture, Macroglossia, Protein-los... OMIM:618440
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Patent ductus arteriosus, Recurrent pneumonia, Bronchiectasis, ... ORPHA:980
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Diamond-Blackfan Anemia
Acute myeloid leukemia, Short stature, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytop... ORPHA:124
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Raynaud phenomenon, T lymphocytopenia, Neutropenia, Lymphopenia OMIM:607944
X-Linked Intellectual Disability, Cabezas Type
Decreased testicular size, Cachexia, Obesity ORPHA:85293
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Vacterl Association With Hydrocephalus
Respiratory failure, Respiratory insufficiency OMIM:276950
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstit... OMIM:617050
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism... ORPHA:83617
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Cholangitis OMIM:614204
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Spondyloocular Syndrome
Osteopenia, Long toe, Pes planus, Arachnodactyly, Femur fracture, Overlapping toe, Lymphedema, Lo... OMIM:605822
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Increased circulating IgA level, Peritonitis, Lymphadenopathy, Growth delay ORPHA:343
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Increased circulating IgE level, Short stature ORPHA:3409
Recon Progeroid Syndrome
Growth delay, Thrombocytopenia, Short stature, Anemia OMIM:620370
Nocardiosis
Respiratory distress, Brain abscess, Liver abscess, Pneumonia, Productive cough, Lymphadenitis, P... ORPHA:31204
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation, Conjugated hyperbilirubinemia,... OMIM:208085
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Edema, Hypokalemia, Increased circulating creatine... ORPHA:466677
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Dilated cardiomyopathy, Bradycardia OMIM:610768
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Splenomegaly, Abdominal distention, Cleft palate, High palate, Hypocalcemia, Prot... OMIM:235255
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma... ORPHA:97289
Fanconi Renotubular Syndrome 5
Decreased DLCO, Pulmonary fibrosis, Hypophosphatemia, Hypophosphatemic rickets, Emphysema, Lung a... OMIM:618913
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentra... ORPHA:264580
Rett Syndrome
Cachexia OMIM:312750
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Pleural effusion, Hypoalbuminemia, Thrombocytopenia, Normochromic anemia OMIM:254900
Weill-Marchesani Syndrome 1
Thin bony cortex, Joint stiffness, Patent ductus arteriosus, Broad phalanges of the hand, Broad m... OMIM:277600
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Noonan Syndrome 9
Prolonged prothrombin time OMIM:616559
Nodular Non-Suppurative Panniculitis
Splenomegaly, Weight loss, Hepatomegaly ORPHA:33577
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Orthostatic Hypotension 2
Anemia OMIM:618182
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentra... ORPHA:79240
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Weight loss, ... ORPHA:1332
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Splenomegaly, Jaund... OMIM:608885
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Short stature, Abnormal... ORPHA:1775
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine... ORPHA:99901
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Mecke... ORPHA:2847
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure OMIM:616505
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:608068
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Cholestasis, Respiratory insufficiency, Respiratory failure, Hypocalcemia, Le... ORPHA:746
Dermatomyositis
Recurrent respiratory infections, Abnormal eosinophil morphology, Abnormal pulmonary interstitial... ORPHA:221
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss ORPHA:99868
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Failure to thrive, Anemia, Weight loss ORPHA:1842
Xfe Progeroid Syndrome
Failure to thrive, Ascites, Cachexia OMIM:610965
Sarcoidosis
Increased T cell count, Abnormal lung morphology, Leukopenia, Cough, Emphysema, Hemolytic anemia,... ORPHA:797
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Absent pubertal gr... OMIM:250250
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Hyperalaninemia, Cryptorchidism, Respiratory failure, Short stature OMIM:619847
Sandestig-Stefanova Syndrome
Intrauterine growth retardation, Respiratory failure OMIM:618804
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Recurrent fractures, Long fingers, Osteoporosis, Talipes... OMIM:309583
Joubert Syndrome 21
Apnea, Dyspnea, Splenomegaly, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis OMIM:615636
Wilson Disease
Hypoparathyroidism, Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentra... OMIM:277900
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... ORPHA:98897
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomegaly, Tachypnea, Anomal... ORPHA:555874
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss ORPHA:99978
Attrv30M Amyloidosis
Weight loss, Cardiomegaly ORPHA:85447
Arthrogryposis Multiplex Congenita 6
Respiratory failure OMIM:619334
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Severe Congenital Nemaline Myopathy
Respiratory failure, Pulmonary hypoplasia ORPHA:171430
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Short stature, Cryptorchidism, Anemia, Leukopenia, Restrict... OMIM:305000
Serkal Syndrome
Malrotation of small bowel, Congenital diaphragmatic hernia ORPHA:139466
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Elevated circulating uropo... OMIM:263700
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Abnormal pituita... ORPHA:64744
Histiocytoid Cardiomyopathy
Pulmonary edema ORPHA:137675
Fanconi Anemia, Complementation Group D2
Pancytopenia, Short stature, Cryptorchidism, Annular pancreas, Reticulocytopenia, Anemia, Bone ma... OMIM:227646
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Respiratory distress, Megaloblastic anemia, Pulmonary ... ORPHA:79282
Glycogen Storage Disease Ii
Hepatomegaly, Recurrent respiratory infections, Increased circulating NT-proBNP concentration, El... OMIM:232300
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Long toe, Short humerus, Hypertriglyceridemia, Short femur, Camptodactyly of finger, ... ORPHA:3455
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Macrocytic anemia, Cleft palate, Increased mean corpuscular volume, Es... OMIM:612562
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Hepa... ORPHA:2072
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany, Pulmonary edema ORPHA:73224
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Stiff-Person Syndrome
Hypertension, Tachycardia, Anemia OMIM:184850
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Recurrent respiratory infections, Hypertriglyceridemia, Short femur, Pne... OMIM:264090
Digeorge Syndrome
Parathyroid agenesis, Short stature, Impaired T cell function, Splenomegaly, Atelectasis, Recurre... OMIM:188400
Copper Deficiency, Familial Benign
Decreased circulating copper concentration, Anemia OMIM:121270
Camurati-Engelmann Disease
Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Slender build, Anemia ORPHA:1328
Graves Disease, Susceptibility To, 1
Abnormal abdomen morphology, Weight loss, Goiter OMIM:275000
Oculocerebrofacial Syndrome, Kaufman Type
Growth delay, Dyspnea, Respiratory failure, Respiratory distress ORPHA:2707
C3 Glomerulopathy
Decreased circulating complement C3 concentration, Paraproteinemia, Elevated circulating creatini... ORPHA:329918
Weill-Marchesani Syndrome 2
Short metacarpal, Thin bony cortex, Joint stiffness, Patent ductus arteriosus, Short metatarsal, ... OMIM:608328
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Mcleod Syndrome
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, R... OMIM:300842
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Thrombocytopenia, Short stature, Anemia OMIM:620072
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Mitochondrial Complex I Deficiency, Nuclear Type 33
Respiratory insufficiency, Apnea, Bronchiectasis, Aspiration pneumonia OMIM:618253
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Apnea, Splenomegaly, Respiratory insufficiency, Growth delay, Respiratory failure, ... OMIM:252010
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, Respiratory failure, Hypoalbuminemia, Bile duct proliferation, Macrove... OMIM:618329
21Q22.11Q22.12 Microdeletion Syndrome
Short stature, Postnatal growth retardation, Anemia, Hypoplastic nipples, Thrombocytopenia ORPHA:261323
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Splenomegaly, Abdominal distention, Hepatosplenomegaly, High palate, Hypocalcemia... ORPHA:1655
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con... ORPHA:79277
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Ach... OMIM:613812
Niemann-Pick Disease Type C
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Abnormal lung morpho... ORPHA:646
Systemic Lupus Erythematosus
Hemolytic anemia, Lymphadenopathy, Leukopenia, Decreased circulating complement C3 concentration,... ORPHA:536
Faciocardiomelic Syndrome
Osteopenia, Micrognathia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex OMIM:612731
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Thrombocytopenia OMIM:611126
Dubowitz Syndrome
Hypoparathyroidism, Short stature, Abnormality of neutrophils, Postnatal growth retardation, Cryp... ORPHA:235
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Decreased hemoglobin concentration, Neonatal respiratory distress, Cryptorchidism, ... OMIM:619005
Cowden Syndrome 1
Decreased circulating antibody level, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Lymphope... OMIM:158350
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Vulvar... ORPHA:1018
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... OMIM:277400
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnor... ORPHA:2538
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Atelectasis, Recurrent pneumonia, Growth delay, Hypoplasia of the thymus, Pulmo... OMIM:613177
Reni Syndrome
Cryptorchidism, Lymphopenia, Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Trichohepatoenteric Syndrome 1
Hepatomegaly, Short stature, Increased mean platelet volume, Splenomegaly, Abnormality of the pan... OMIM:222470
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Reduced haptoglobin level, Anemia of inadequate production, Congenital hypopla... OMIM:105600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin concentration,... ORPHA:90041
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Prolonged QT interval, Inflammatory abnormality of the skin, Tachycardia, P... ORPHA:26793
Bartter Syndrome, Type 2, Antenatal
Impaired platelet aggregation OMIM:241200
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Weight loss, Lymphadenopathy ORPHA:2221
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Postnatal growth retardation, Intrauterine growth retardation, Thrombocytopenia OMIM:612394
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... ORPHA:95455
Diamond-Blackfan Anemia 10
Respiratory distress, Macrocytic anemia, Short stature, Reticulocytopenia, Growth delay, Steroid-... OMIM:613309
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Huntington Disease-Like 2
Weight loss OMIM:606438
Erythrokeratodermia Variabilis
Abnormal testis morphology, Weight loss ORPHA:317
Illum Syndrome
Bradycardia OMIM:208155
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Increased circulating very long-chain fatty acid concentration OMIM:614862
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Orthopnea, Elevated circulating creatine kinase concentration... ORPHA:365
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, Heart murmur ORPHA:1867
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... ORPHA:496641
Cryptococcosis
Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Knee flexion contracture, Inflammation of the large intestine, Rectovaginal fistu... OMIM:619708
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Infantile Liver Failure Syndrome 3
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridgin... OMIM:618641
Pelvis-Shoulder Dysplasia
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... ORPHA:2839
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis ORPHA:71493
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Short stature, Splenomegaly, Micronodular cirrhosis, Aspiration pneumonia, Ascites,... OMIM:301072
Nephroblastoma
Neoplasm of the liver, Weight loss, Lymphadenopathy ORPHA:654
Noonan Syndrome 4
Cryptorchidism, Short stature, Thrombocytopenia OMIM:610733
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Abnormal blood ion concentration, Growth ... ORPHA:79404
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Pulmonary edema, Simplified gyral pattern, Hyperammonemia, Micrognathia OMIM:220111
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Peritonitis, Recurrent tonsillitis, Bone ... ORPHA:2968
Niemann-Pick Disease, Type C1
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... OMIM:257220
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Melena, ... OMIM:158310
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:247353
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Asplenia, Tracheoesophageal fistula, Duodenal sten... ORPHA:210122
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Weight loss, Lymphadenopathy ORPHA:142
Lathosterolosis
Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Intrau... ORPHA:46059
Noonan Syndrome
Abnormal bleeding, Abnormal platelet function ORPHA:648
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull... OMIM:619727
Combined Oxidative Phosphorylation Deficiency 3
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Dyspnea, Hyperamm... OMIM:610505
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... ORPHA:2636
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Respiratory failure, Hepatic steatosis OMIM:614922
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland ORPHA:2969
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Diffuse alveolar hemorrhage, Abnormal lung morphology, Abnormality of the liver, Hyperbilirubinem... ORPHA:464321
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia OMIM:616812
Parenteral Nutrition-Associated Cholestasis
Villous atrophy, Abdominal pain, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid c... ORPHA:567983
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Short stature, Cryptorchidism, Respiratory insufficiency, Anemia, Hypocalcemi... ORPHA:163979
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Skin rash, Pneumonia, Raynaud phenomenon, Punctate vasculitis skin l... ORPHA:247691
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... ORPHA:1333
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Geleophysic Dysplasia 3
Hepatomegaly, Short stature, Pneumonia, Dyspnea, Respiratory failure OMIM:617809
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Hypertriglyceridemia, Splenomegaly, Mic... OMIM:619418
Esophageal Atresia
Barrett esophagus, Intestinal malrotation, Feeding difficulties in infancy, Pyloric stenosis, Gas... ORPHA:1199
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Short stature, Cryptorchidism, Disproportionate short-l... OMIM:616541
Thrombocytopenia-Absent Radius Syndrome
Short stature, Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Decrease... OMIM:274000
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cryptorchidism, Respiratory failure, Intrauterine growth retardation OMIM:620327
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Neonatal respiratory distress, Short stature, A... OMIM:619004
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level, Allergic rhinitis ORPHA:90368
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Splenomegaly, Atelectasis, Respiratory insufficiency, Periportal fibrosis, Hypoplas... OMIM:269860
Kindler Epidermolysis Bullosa
Recurrent skin infections, Camptodactyly of finger, Esophageal stricture, Flexion contracture, Ch... ORPHA:2908
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis ORPHA:896
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Weight loss, Syncope, Anemia ORPHA:71273
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Hypoglycinemia, Megaloblastic anemia, Hyposerinemia, Feeding difficulties, Gastroesophageal reflu... ORPHA:79351
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Small for gestational age, Microcytic anemia, Abnormal isohemagglutin... ORPHA:99843
Diamond-Blackfan Anemia 1
Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Reticulocytopenia, Persistence o... OMIM:105650
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Takayasu Arteritis
Anemia, Weight loss ORPHA:3287
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Failure to thrive, Portal hypertension, Hepat... OMIM:619487
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Weight loss, Iron deficiency anemia, Thrombocytosis, Failure to thrive, Decrea... OMIM:212750
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia ORPHA:204
Scleromyxedema
Elevated circulating creatine kinase concentration, Abnormal lung morphology, Paraproteinemia, Ab... ORPHA:167635
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Increased circulating antibody level, Hypoalbuminemia, ... ORPHA:86816
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Keratoconjunctivitis sicc... ORPHA:309031
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s... OMIM:602668
Pseudohypoparathyroidism Type 1A
Abnormal platelet function ORPHA:79443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Elevated circulating creatine kinase concentration OMIM:616538
Trisomy 18
Cryptorchidism, Cachexia ORPHA:3380
Spondyloenchondrodysplasia
Enchondroma, Skin rash, Pneumonia, Raynaud phenomenon, Vasculitis, Hepatitis, Arthritis, Hyperten... ORPHA:1855
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Short stature, Splenomegaly, Hyperlipidemia, Delayed puberty, ... OMIM:232220
Isotretinoin-Like Syndrome
Postnatal growth retardation, Hypocalcemia, Abnormality of the pulmonary veins, Intrauterine grow... ORPHA:2306
Juvenile Huntington Disease
Weight loss ORPHA:248111
Intussusception
Intussusception OMIM:147710
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... OMIM:301068
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Eosinophilia, Abnormal pleura morphology, Weight loss ORPHA:183
Schwartz-Jampel Syndrome
Testicular torsion, Decreased testicular size, Cachexia, Decreased body weight ORPHA:800
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Feeding difficulties, Hepatosplenomegaly, Decreased serum zinc, Esophagitis, Hepatic failure ORPHA:541423
Malignant Peritoneal Mesothelioma
Peritonitis, Ascites, Weight loss ORPHA:168811
Fraser Syndrome 2
Respiratory failure, Hypoplasia of the thymus OMIM:617666
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Weight loss, C... ORPHA:465508
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Rectal prolapse, Narrow palate, Protein-losing enteropathy, Hypoalbuminemia, Camp... OMIM:235510
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Volvulus, Me... OMIM:115470
Atelis Syndrome 2
Dyspnea, Thrombocytopenia, Anemia OMIM:620185
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure OMIM:617186
Liver Failure, Infantile, Transient
Prolonged prothrombin time, Decreased circulating IgG level OMIM:613070
Isolated Biliary Atresia
Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis... ORPHA:30391
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Short stature, Anemia, Hepatosplenomegaly OMIM:259730
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Bradycardia ORPHA:90674
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Short stature ORPHA:280210
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Eosinophilia, Hepatitis, Weight loss, Failure to thrive ORPHA:199299
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:91500
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
High nonceruloplasmin-bound serum copper, Thrombocytopenia ORPHA:457351
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Short stature, Abnormality of the tonsils, Abnormality of thrombocytes, Impai... ORPHA:567
Encephalitis Lethargica
Bradycardia ORPHA:83600
Glycine Encephalopathy With Normal Serum Glycine
Respiratory failure, Apnea OMIM:617301
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Hypercalcemia,... ORPHA:913
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis OMIM:300219
Metachromatic Leukodystrophy
Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Feeding difficultie... ORPHA:512
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Goiter OMIM:188580
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V... ORPHA:565612
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Abdominal mass, Anemia, Weight loss OMIM:256700
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Peptic ulcer, Diarrhea, Zollinger-Ellison syndrome, Esophagitis OMIM:131100
Dextrocardia
Abnormality of the spleen, Meckel diverticulum, Intestinal malrotation ORPHA:1666
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time OMIM:614300
Wars2-Related Combined Oxidative Phosphorylation Defect
Intrauterine growth retardation, Thrombocytopenia ORPHA:572798
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Dyspnea, Abnormality of the lymphatic system, Pneu... ORPHA:538
Focal Myositis
Weight loss ORPHA:48918
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Pulmonary artery stenosis, L... ORPHA:667
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Pulmonary artery stenosis, Cardiorespiratory arrest, Respiratory f... ORPHA:3342
Seckel Syndrome
Cachexia ORPHA:808
Cockayne Syndrome
Cryptorchidism, Splenomegaly, Cachexia, Hepatomegaly ORPHA:191
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Short stature, Decreased response to growth hormone stimulation test, Cardiomegaly,... OMIM:602782
Lymphatic Filariasis
Lymphadenitis, Abnormal lung morphology, Abnormality of the lymphatic system, Hypereosinophilia, ... ORPHA:2035
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepato... ORPHA:85450
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Postnatal growth retardation, Intrauterine growth retardation, Respiratory failure ORPHA:254528
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Respiratory failure, Chylothorax OMIM:620278
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... ORPHA:309854
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Glycogen Storage Disease Ic
Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Gout, Inflammation of the l... OMIM:232240
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume, Cryptorchidism OMIM:616737
Localized Scleroderma
Skeletal muscle atrophy, Fasciitis, Flexion contracture, Uveitis, Myopathy, Arthritis, Gastroesop... ORPHA:90289
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Arrhythmia, Anemia ORPHA:139411
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Goiter OMIM:613239
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Hereditary Chronic Pancreatitis
Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Jaundice ORPHA:676
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Splenomegal... OMIM:276700
Sialuria
Prolonged prothrombin time ORPHA:3166
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Allergic rhinitis, Asthma, Decreased circulating total IgM, Annular pancreas OMIM:618162
Lethal Acantholytic Erosive Disorder
Intrauterine growth retardation, Respiratory failure, Cardiomegaly ORPHA:158687
Poliomyelitis
Respiratory failure requiring assisted ventilation, Respiratory failure, Absent tonsils ORPHA:2912
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... OMIM:619377
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Pelvic mass, Jaundice, Ovarian neoplasm, Weight loss, Ascites, Pancreat... ORPHA:370348
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... ORPHA:29207
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Aspiration pneumonia, Left... OMIM:619167
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Short stature, Postnatal growth retardation, Cryptorchidism, Pulmonary artery steno... ORPHA:96334
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97283
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Weight loss ORPHA:171876
Perry Syndrome
Weight loss ORPHA:178509
Isolated Succinate-Coq Reductase Deficiency
Left ventricular hypertrophy, Weight loss ORPHA:3208
Idiopathic Steroid-Resistant Nephrotic Syndrome
Respiratory tract infection, Minimal change glomerulonephritis, Peritonitis, Pulmonary embolism ORPHA:567548
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Bohring-Opitz Syndrome
Severe failure to thrive, Bradycardia ORPHA:97297
Proteus Syndrome
Thymus hyperplasia, Testicular neoplasm, Cachexia, Neoplasm of the thymus, Splenomegaly, Enlarged... ORPHA:744
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Tapered finger OMIM:618367
Velocardiofacial Syndrome
Talipes, Impaired T cell function, Hypocalcemia, Unilateral primary pulmonary dysgenesis, Pulmona... OMIM:192430
Leptospirosis
Respiratory distress, Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Hyperproteinemia, Cough... ORPHA:509
Pyomyositis
Recurrent cutaneous abscess formation, Leukocytosis, Weight loss, Testicular teratoma ORPHA:764
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Pneumonia ORPHA:309288
Aspartylglucosaminuria
Pes planus, Recurrent respiratory infections, Abnormal morphology of ulna, Joint stiffness, Splen... ORPHA:93
Reynolds Syndrome
Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Hyperbilirubine... OMIM:613471
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure ORPHA:679
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Ménétrier Disease
Hypochromic microcytic anemia, Weight loss ORPHA:2494
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leukocytosis, Peri... ORPHA:32960
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Thrombocytopenia OMIM:301050
Orofaciodigital Syndrome Ix
Hamartoma, Recurrent aspiration pneumonia OMIM:258865
Goodpasture Syndrome
Nodular pattern on pulmonary HRCT, Crackles, Cough, Increased DLCO, Tachypnea, Restrictive ventil... OMIM:233450
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o... ORPHA:117
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Ecchymosis, Bruising susceptibility ORPHA:287
Cushing Disease
Leukocytosis, Increased body weight, Truncal obesity, Abdominal obesity, Decreased eosinophil cou... ORPHA:96253
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Postnatal growth retardation, Abnormality of the lymphatic system... ORPHA:487796
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97282
Malt Lymphoma
Mediastinal lymphadenopathy, Weight loss, Anemia, Lymphadenopathy ORPHA:52417
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Gm1 Gangliosidosis
Weight loss, Splenomegaly, Failure to thrive, Hepatosplenomegaly ORPHA:354
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time ORPHA:367
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... ORPHA:97278
Jacobsen Syndrome
Recurrent respiratory infections, Cryptorchidism, Intrauterine growth retardation, Annular pancre... OMIM:147791
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Recurrent respiratory infections, Hyperparathyroidism, Short stature, Hypoammonemia... ORPHA:534
Jacobsen Syndrome
Recurrent respiratory infections, Short stature, Cryptorchidism, Growth delay, Bone marrow hypoce... ORPHA:2308
Monosomy 13Q34
Hematochezia, Prolonged prothrombin time, Epistaxis ORPHA:96168
Ear-Patella-Short Stature Syndrome
Respiratory distress, Severe short stature, Cryptorchidism, Dyspnea, Growth delay, Respiratory fa... ORPHA:2554
Huntington Disease-Like 1
Weight loss ORPHA:157941
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine, Polysplenia OMIM:200995
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia OMIM:126320
Khan-Khan-Katsanis Syndrome
Short stature, Neutropenia, Intrauterine growth retardation, Lymphopenia, Anemia OMIM:618460
Cornelia De Lange Syndrome 1
Short stature, Pneumonia, Cryptorchidism, Hypoplastic nipples, Intrauterine growth retardation, D... OMIM:122470
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated circulating creatine kinase concentration, Feeding difficulties, Limb-girdle muscular dy... OMIM:615356
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Acanth... ORPHA:97280
Tarp Syndrome
Extramedullary hematopoiesis, Cryptorchidism, Cleft palate, Glossoptosis, Abnormal duodenum morph... ORPHA:2886
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... ORPHA:97261
Mucopolysaccharidosis, Type Vi
Tricuspid regurgitation, Pneumonia, Recurrent upper respiratory tract infections, Restrictive ven... OMIM:253200
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumulation in hepatocytes, Weig... ORPHA:20
Abnormal Hair, Joint Laxity, And Developmental Delay
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia OMIM:261990
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Cardiac-Urogenital Syndrome
Prolonged bleeding time OMIM:618280
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly OMIM:231005
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Pituitary adenoma, Parathyroid hyperplasia, Re... ORPHA:805
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Unilateral lung agenesis, Proportionate short stature, Secretory IgA deficien... ORPHA:500150
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Crackles, Tachypnea, Hyperkalemia, Hyperphosp... ORPHA:466650
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Microcytic anemia, Splenomegaly, Anemia, Increased hepatic echogenicity, Bile duct ... OMIM:619525
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Weight loss, Hepatomegaly ORPHA:134
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Short stature, Thrombocytopenia, Cryptorchidism, Grow... ORPHA:84
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Aspiration pneumonia OMIM:616430
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Viss Syndrome
Short stature, Dyspnea, Asthma, Pneumothorax, Hypereosinophilia, Increased circulating IgE level,... OMIM:619472
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, Respira... ORPHA:536467
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Abnormal lung lobation, Decreased circul... ORPHA:369837
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased muscle mass, Poor appetite, Feeding difficulties in infancy, High, narrow palate, Crypt... ORPHA:96182
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Pneumonia, Breast carcinoma ORPHA:90790
Plague
Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Splenomegaly, Lymphadenitis, Eryth... ORPHA:707
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss ORPHA:100080
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia ORPHA:52368
Aicardi-Goutières Syndrome
Short stature, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia, He... ORPHA:51
Osteosarcoma
Weight loss ORPHA:668
Acute Liver Failure
Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, Hyperammonemia, Abnormal respirat... ORPHA:90062
Pancreatoblastoma
Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Congenital Tracheal Stenosis
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... ORPHA:141127
Cap Polyposis
Weight loss ORPHA:160148
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Bradycardia ORPHA:226307
Liposarcoma
Weight loss ORPHA:69078
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Defective production of NFKB1-depen... OMIM:612132
Bullous Pemphigoid
Weight loss ORPHA:703
Turner Syndrome Due To Structural X Chromosome Anomalies
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gastrointestinal... ORPHA:99413
Mosaic Monosomy X
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gastrointestinal... ORPHA:99228
Monosomy X
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gastrointestinal... ORPHA:99226
Turner Syndrome
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal inflammation, Gastrointestinal... ORPHA:881
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent bronchop... OMIM:219700
Non-Functioning Paraganglioma
Weight loss ORPHA:94080
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... ORPHA:103918
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Weight loss, Small for gestational age, Thyroid hyperplasia ORPHA:424
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Cholera
Tachycardia, Tachypnea, Hypovolemic shock, Hypotension, Aspiration pneumonia, Hyperventilation ORPHA:173
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the thymus, Small cell lung carcinoma, ... ORPHA:99889
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Microvesicular hepatic steatosis, Respiratory failure, Cirrhosis, Elevated hepatic ... OMIM:300868
Myhre Syndrome
Short stature, Cryptorchidism, Respiratory insufficiency, Birth length less than 3rd percentile, ... OMIM:139210
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Hypercholesterolemia, Decreased response to g... ORPHA:273
Roberts Syndrome
Postnatal growth retardation, Cryptorchidism, Severe intrauterine growth retardation, Thrombocyto... ORPHA:3103
Combined Oxidative Phosphorylation Deficiency 39
Sinus bradycardia OMIM:618397
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Supernumerary nipple, Splenomegaly, Cryptorchidism, Increased circulating IgE level... ORPHA:373
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Diastasis recti, Asplenia, Esophageal atresia, Tracheoesophageal fistula,... OMIM:265380
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss ORPHA:100082
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss, Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85408
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Respiratory tract infection, Dyspnea, Pulmonary embolism, Hype... ORPHA:567546
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Esophageal atresia, Cleft palate, ... OMIM:229850
Mitochondrial Complex I Deficiency, Nuclear Type 32
Hyponatremia, Respiratory failure OMIM:618252
Polyarteritis Nodosa
Weight loss ORPHA:767
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Prolonged prothrombin time OMIM:311250
Neuroendocrine Tumor Of Stomach
Iron deficiency anemia, Weight loss, Chronic noninfectious lymphadenopathy, Hepatomegaly ORPHA:100075
Costello Syndrome
Short stature, Pneumothorax, Respiratory insufficiency, Respiratory failure, Tracheomalacia, Lymp... OMIM:218040
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Stickler Syndrome
Slender build, Cachexia ORPHA:828
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time ORPHA:71212
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Sinus bradycardia, Hypopnea, Restrictive ventilatory defect, Aspiration p... OMIM:619482
Incontinentia Pigmenti
Leukocytosis, Eosinophilia OMIM:308300
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Recurrent skin infections, Intestinal malrotation, Diastasis recti, Hiatus hernia, Cryptorchidism... OMIM:601776
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Neoplasm of the liver, Pelvic mass, Weight loss ORPHA:2126
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Rat-Bite Fever
Abdominal aseptic abscess, Lymphadenitis, Weight loss, Anemia, Pancreatitis, Parotitis ORPHA:31205
Psoriasis-Related Juvenile Idiopathic Arthritis
Abnormality of tumor necrosis factor secretion ORPHA:85436
Polymyositis
Hepatomegaly, Weight loss ORPHA:732
Ulbright-Hodes Syndrome
Respiratory distress, Postnatal growth retardation, Cryptorchidism, Pneumothorax, Birth length le... ORPHA:3404
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... OMIM:606002
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Severe short stature, Dyspnea, Growth delay, Respiratory failure, Abnormal ... ORPHA:2556
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Prolonged prothrombin time, Decreased circulating IgG level, Decreased circulatin... OMIM:212065
Familial Gestational Hyperthyroidism
Goiter, Weight loss, Thyroid hyperplasia ORPHA:99819
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Short stature, Repeated pneumothoraces, Nod... OMIM:130050
Yao Syndrome
Weight loss OMIM:617321
Chops Syndrome
Tracheomalacia, Chronic lung disease, Anomalous pulmonary venous return, Aspiration pneumonia OMIM:616368
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Bradycardia OMIM:614437
Marshall-Smith Syndrome
Apnea, Recurrent upper respiratory tract infections, Premature ventricular contraction, Stridor, ... OMIM:602535
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Nasogastric tube feeding in infancy, Anteriorly placed... ORPHA:1708
Multiple Endocrine Neoplasia Type 4
Hypercalcemia, Peptic ulcer, Testicular neoplasm, Diarrhea, Episodic abdominal pain, Zollinger-El... ORPHA:276152
Lynch Syndrome
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... ORPHA:144
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Arrhythmia, Infectious encephalitis ORPHA:68
Perry Syndrome
Weight loss OMIM:168605
Hypothyroidism, Congenital, Nongoitrous, 2
Bradycardia OMIM:218700
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time OMIM:614921
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Ovarian neoplasm, Weight ... ORPHA:440437
Oromandibular Dystonia
Weight loss ORPHA:93958
Rheumatoid Arthritis
Weight loss OMIM:180300
Granulomatosis With Polyangiitis
Granulomatosis, Weight loss OMIM:608710
8P23.1 Microdeletion Syndrome
Cryptorchidism, Obesity, Weight loss ORPHA:251071
Familial Glucocorticoid Deficiency
Cryptorchidism, Testicular adrenal rest tumor, Weight loss, Leydig cell neoplasia, Failure to thrive ORPHA:361
Giant Cell Arteritis
Mediastinal lymphadenopathy, Weight loss ORPHA:397
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Short stature, Postnatal grow... OMIM:163950
Fatal Familial Insomnia
Weight loss OMIM:600072
Adrenocortical Carcinoma
Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss ORPHA:1501
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Weight loss, Extrahepatic cholestasis, Lymphadenopathy ORPHA:100078
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocytoma ORPHA:276621
Incontinentia Pigmenti
Eosinophilia ORPHA:464
Mucolipidosis Type Ii
Left ventricular hypertrophy, Splenomegaly, Weight loss, Hepatosplenomegaly ORPHA:576
Norrie Disease
Cryptorchidism, Failure to thrive, Cachexia ORPHA:649
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Respiratory tract infection, Upper airway obstruction, Atriov... ORPHA:581
Short Syndrome
Weight loss ORPHA:3163
Addison Disease
Normocytic anemia, Hypoparathyroidism, Primary testicular failure, Thiamine-responsive megaloblas... ORPHA:85138
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Mitral regurgitation, Pneumonia, Otitis media ORPHA:309282
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Aspiration pneumonia ORPHA:79255
Trichinellosis
Increased circulating IgE level ORPHA:863
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Pneumonia, Cardiac conduction abnormality, Pilomatrixoma, Asthm... ORPHA:353281
Hermansky-Pudlak Syndrome
Weight loss, Neutropenia ORPHA:79430
Fraser Syndrome 1
Cryptorchidism, Abnormal small intestine morphology, Cleft palate, Abnormality of the anus OMIM:219000
Relapsing Polychondritis
Dyspnea, Atelectasis, Abnormal pattern of respiration, Cough ORPHA:728
Acute Adrenal Insufficiency
Normocytic anemia, Failure to thrive, Weight loss ORPHA:95409
Erdheim-Chester Disease
Retroperitoneal fibrosis, Anemia, Weight loss ORPHA:35687
Multiple Osteochondromas
Osteochondroma, Chondrosarcoma, Pneumothorax, Arthritis, Rib exostoses, Scapular exostoses, Hemot... ORPHA:321
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Hydrocele testis, Weight loss ORPHA:49041
Otopalatodigital Syndrome, Type Ii
Short stature, Postnatal growth retardation, Cryptorchidism, Respiratory insufficiency, Respirato... OMIM:304120
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Pituitary null cell adenoma, Elevated circulating growth hormone concen... ORPHA:652
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Recurrent pneumonia, Pyelonephritis, Small bowel diverticula ORPHA:90349
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Testicular neoplasm, Primary hyperparathyroidism, Abnormal parathyroid... ORPHA:143
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Degcags Syndrome
Tachycardia, Pneumonia, Asthma, Rhinitis, Pulmonic stenosis, Tracheomalacia, Pulmonary arterial h... OMIM:619488
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocytoma ORPHA:29072
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Coffin-Siris Syndrome
Hepatoblastoma, Recurrent upper respiratory tract infections, Papillary thyroid carcinoma, Aspira... ORPHA:1465
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Asthma, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypert... ORPHA:444077
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Increased circulatin... ORPHA:91347
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Pancreatic hypoplasia, Reduced pancreatic beta cells, Weight loss ORPHA:99885
Cystinosis, Nephropathic
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Weight loss, Exocrine pancreatic insuff... OMIM:219800
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Aspiration pneumonia ORPHA:99027
Cysticercosis
Increased circulating antibody level ORPHA:1560
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Pneumonia, Cardiac conduction abnormality, Pilomatrixoma, Asthm... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Pneumonia, Cardiac conduction abnormality, Pilomatrixoma, Asthm... ORPHA:353277
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Granulomatosis With Polyangiitis
Granulomatosis, Pancreatitis, Weight loss ORPHA:900
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss OMIM:607459
Genitopatellar Syndrome
Hip contracture, Anal stenosis, Cryptorchidism, Malrotation of small bowel, Knee flexion contract... OMIM:606170
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Prolonged prothrombin time ORPHA:404454
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Semilobar Holoprosencephaly
Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Abnormal pattern of respira... ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Abnormal pattern of respira... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Abnormal pattern of respira... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Abnormal heart rate variability, Aspiration pneumonia, Abnormal pattern of respira... ORPHA:93924
African Trypanosomiasis
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Hepatosplenomegaly, Abnormal prolactin lev... ORPHA:3385
Chand Syndrome
Atelectasis ORPHA:1401
Choreoacanthocytosis
Hepatomegaly, Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly, Weight loss ORPHA:2388
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Pulmonic stenosis, Aspiration pneumonia ORPHA:438213
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Syncope, Septic arthritis, Bruising susceptibility, Recurrent aspiratio... ORPHA:642
Doors Syndrome
Respiratory distress, Capillary hemangioma, Aspiration pneumonia ORPHA:79500
Chronic Graft Versus Host Disease
Pancytopenia, Ascites, Weight loss ORPHA:99921
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased testicular size, Failure to thrive, Testicular adrenal rest tumor, Weight loss ORPHA:90794
Pmm2-Cdg
Elevated circulating growth hormone concentration, Abnormal liver parenchyma morphology, Hepatic ... ORPHA:79318
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Weight loss ORPHA:740
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Heart murmur, Aspiration pneumonia, Cardiomyopathy OMIM:216340

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Inpp5d

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Inpp5d.

No publications found that use IMPC mice or data for Inpp5d.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Inpp5dem1(IMPC)Bay Exon Deletion Mice
Inpp5dtm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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