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Gene: Clec1b MGI:1913287

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
C-type lectin domain family 1, member b
Synonyms:
Clec2,  Clec-2,  1810061I13Rik

Order Alleles

IMPC Data Collections

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

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.

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 Clec1b 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 Clec1b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... OMIM:273800
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Angioedema, Hereditary, 3
Facial edema, Angioedema, Intestinal edema, Pharyngeal edema OMIM:610618
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induce... OMIM:619267
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Platelet Signal Processing Defect
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... OMIM:173590
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Impaired ... ORPHA:849
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Asbestos Intoxication
Edema, Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular in... ORPHA:2302
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Immune Thrombocytopenia
Abnormal bleeding, Thrombocytopenia OMIM:188030
Thrombocytopenia 2
Leukocytosis, Bruising susceptibility, Thrombocytopenia OMIM:188000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet functio... ORPHA:231393
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Epistaxis, Macrothrombocytopenia, Anemia, Spontaneous hematomas, Menorrhagia, ... OMIM:616176
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis, Impaired epinephri... OMIM:615888
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... ORPHA:50251
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Crackles, Nonproductive cough, Tachypnea, Decreased DLCO, Peri... ORPHA:79126
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Lymphangiectasia, Pulmonary, Congenital
Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Edema, Polyhydramni... OMIM:265300
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Impaired collagen-induced platelet a... OMIM:614201
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Circumvallate Placenta Syndrome
Intracranial hemorrhage, Respiratory insufficiency, Polyhydramnios OMIM:215550
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomega... ORPHA:2414
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Ground-glass opacification, Dyspnea, M... ORPHA:60026
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture... OMIM:202400
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... OMIM:609821
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... OMIM:267450
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Impaired rist... OMIM:231200
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Miscarriage, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Refractory Anemia
Normocytic anemia, Abnormal bleeding, Macrocytic anemia, Abnormal cardiac ventricular function, A... ORPHA:98826
Hydrops Fetalis
Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnorma... ORPHA:1041
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Prolonged bleeding time, Epistaxis, Myocardial infarction, Impaired ADP-induced platelet aggregat... OMIM:155100
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anem... OMIM:187800
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Moyamoya Disease With Early-Onset Achalasia
Abnormal cerebral vascular morphology, Raynaud phenomenon, Abnormal platelet aggregation, Hyperte... ORPHA:401945
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Preeclampsia/Eclampsia 1
Hypertension, Thrombocytopenia OMIM:189800
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Epi... OMIM:314050
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis OMIM:614009
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia ORPHA:294
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Abnormality of thrombocytes, Splenomegaly, Bruising susceptibility,... ORPHA:721
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... ORPHA:231401
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Increased mean platelet volume, Impaired ADP-induced platelet aggregatio... OMIM:617443
Acute Myelomonocytic Leukemia
Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia ORPHA:517
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... ORPHA:2902
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Thrombocytopenia 5
Petechiae, Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, ... OMIM:616216
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Ground-... OMIM:619773
Familial Afibrinogenemia
Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival bleeding ORPHA:98880
Fetal Gaucher Disease
Death in infancy, Hepatomegaly, Splenomegaly, Abnormality of the spleen, Hydrops fetalis, Intracr... ORPHA:85212
Angioedema, Hereditary, 1
Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema OMIM:106100
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:613554
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Peripheral arteriovenous fist... ORPHA:90308
Aspergillosis
Sinusitis, Diffuse reticular or finely nodular infiltrations, Intracranial hemorrhage, Cough, Chr... ORPHA:1163
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Abnormal bleeding, Anemia of inadequate ... ORPHA:75564
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... ORPHA:70588
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Prolonged bleeding time, Hepatomegaly, Lymphedema, Splenomegaly... ORPHA:3226
Internal Carotid Absence
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage ORPHA:981
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Cardiomyopathy, Familial Restrictive, 6
Death in infancy, Hepatomegaly, Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic steno... OMIM:619433
Hereditary Angioedema Type 1
Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Facial edema, Abn... ORPHA:100050
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hy... OMIM:619751
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... ORPHA:98878
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hydrops fetalis, Hypertrophic cardiomyopathy, Ascites, Thrombocyto... ORPHA:295
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Intestinal bleeding, Joint hemorrhage, Epistaxis OMIM:605735
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Tularemia
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Tachycardia, Skin rash, Pneumo... ORPHA:3392
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Intestinal obstruction, Intestinal lymphedema, Increased stool ... ORPHA:90363
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... OMIM:614072
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregation, Sple... OMIM:153670
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Cardiac arrest, Splenomegal... ORPHA:77260
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Pneumothorax, Chronic pulmonary ob... ORPHA:411703
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... OMIM:300367
Trimethylaminuria
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia OMIM:602079
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Polyhydramnios, Splenomegaly, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Ascites... ORPHA:1046
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after dental ... OMIM:193400
Snakebite Envenomation
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Intracranial... ORPHA:449285
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Anemia OMIM:611283
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Nephrosialidosis
Pericardial effusion, Ascites, Bone-marrow foam cells, Death in childhood OMIM:256150
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cerebral hemorrhage, Pruritus, T... ORPHA:99828
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... ORPHA:3002
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Gastrointestinal hemorrhage, Prolonged bleeding time, Increased RBC distributi... OMIM:187900
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Crackles, Ground-glass opacification, Cough, Atelectasis, ... OMIM:620233
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Platelet Disorder, Undefined
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Pulmonary capillary hemangiomatosis, Mediastinal lymphadenopathy, Dys... OMIM:234810
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Prolonged bleeding time, Epistaxis, Impaired platelet aggregation, Abnormal dense granule content... OMIM:601399
Quebec Platelet Disorder
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac dea... OMIM:115197
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Acute Lung Injury
Shock, Respiratory distress, Pneumonia, Edema, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, A... ORPHA:178320
Familial Atrial Myxoma
Tricuspid regurgitation, Congestive heart failure, Heart murmur, Pedal edema, Dilatation of the c... ORPHA:615
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Skin rash, Pruritus, Pericardial effusion, Angioedema, Emphysema, Splenomegaly, Dys... ORPHA:36412
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Increased circ... ORPHA:284227
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... ORPHA:284388
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Prolonged bleeding after dental extraction, Prolonged bleeding foll... ORPHA:325
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... OMIM:614076
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia, Death in infancy OMIM:619302
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia... ORPHA:238459
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Pruritus, Facial edema, Ab... ORPHA:100057
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Bilateral Striopallidodentate Calcinosis
Subcutaneous hemorrhage, Thrombocytopenia ORPHA:1980
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... ORPHA:36382
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... OMIM:617300
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Splenomegaly, Abnormal l... ORPHA:464329
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extraction, Prolonged ble... ORPHA:326
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the ... ORPHA:69735
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Hydrops feta... ORPHA:45452
Moderate Hemophilia A
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Prolonged bleeding after den... ORPHA:169805
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Su... ORPHA:169802
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Epistaxis, Portal hypertension, Splenomegaly, Thrombocytopenia, Ecchymosis, Ascites... OMIM:619463
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, ... ORPHA:538
Infantile Sialic Acid Storage Disease
Hepatomegaly, Congestive heart failure, Splenomegaly, Hydrops fetalis, Death in childhood, Ascites OMIM:269920
Focal Segmental Glomerulosclerosis 1
Hypertension, Pleural effusion, Ascites, Edema OMIM:603278
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Pneumothorax, Dyspnea,... OMIM:612387
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformati... ORPHA:137667
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites ORPHA:100025
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati... OMIM:301080
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Ascites ORPHA:2198
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Dyspnea, Hydrops fetalis, Pedal edema, Ascites ORPHA:87876
Staphylococcal Necrotizing Pneumonia
Shock, Respiratory distress, Pneumonia, Cough, Nonproductive cough, Dyspnea, Pneumothorax, Tachyp... ORPHA:36238
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Vasculitis in the skin, Recurrent lo... OMIM:620321
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Ascites, Chylous
Chylous ascites OMIM:208300
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Stroke, Cerebral hemorrhage OMIM:105150
Abetal34V Amyloidosis
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324703
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... ORPHA:264675
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Anemia OMIM:617408
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia OMIM:603284
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary capillary hem... ORPHA:199241
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Reticulocytopenia, Retinal hemorrhage, Anemia, Gingival bleeding, Neutro... ORPHA:88
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Abnormal bleeding, Hematemesis, Pr... ORPHA:274
Pseudo-Torch Syndrome 2
Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorrhage, Thrombocytopenia, Patent ... OMIM:617397
Hydrops Fetalis, Nonimmune
Congestive heart failure, Anemia OMIM:236750
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... OMIM:613225
Pseudo-Torch Syndrome 3
Death in infancy, Apnea, Cerebral hemorrhage, Lymphadenitis, Respiratory insufficiency, Hypertens... OMIM:618886
Acquired Von Willebrand Syndrome
Normocytic anemia, Refractory anemia, Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxi... ORPHA:99147
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Chronic neutropenia, Thrombocytopenia OMIM:619301
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Edema, Pulmonary embolism, Decreased circulating antibody level, Intestinal lymphan... OMIM:226300
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Epistaxis, Prolonged bleeding afte... ORPHA:465
Ataxia-Pancytopenia Syndrome
Splenomegaly, Abnormal platelet function, Decreased circulating antibody level ORPHA:2585
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Polyhydramnios, Atelectasis, Neonatal death OMIM:300219
Malaria
Anemia, Thrombocytopenia ORPHA:673
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Recurrent upper respiratory tract infectio... OMIM:614075
Aicardi-Goutieres Syndrome 3
Death in childhood, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Portal hypertensio... ORPHA:367
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... ORPHA:464321
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness, P... OMIM:300580
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Nephronophthisis
Anemia ORPHA:655
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... OMIM:263400
Hemophilia B
Spontaneous, recurrent epistaxis, Prolonged bleeding time, Prolonged bleeding after dental extrac... ORPHA:98879
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Ascites OMIM:174050
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Prolonged bleeding after dental extraction, Prolonged bleeding af... ORPHA:331
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Anemia, Pulmonary embolism OMIM:614514
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding after surgery, Prolo... ORPHA:35909
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Ground-glass opacification, Reduced forced vital c... ORPHA:91359
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Myocar... ORPHA:182050
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Ground-glass opacification, Productive cough, Conge... ORPHA:454836
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Factor Vii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... OMIM:227500
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly OMIM:312500
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Non-Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin, Thrombocytopenia ORPHA:141179
Primary Familial Polycythemia
Abnormal bleeding, Epistaxis, Polycythemia, Abnormal hemoglobin ORPHA:90042
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Thrombocyto... ORPHA:324636
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Right bundle branch block, Pulmonary fibrosis, Bronchiolitis, Exertional dyspnea ORPHA:254361
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Subarachnoid hemorrhage, Asthma,... OMIM:243700
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, Ascites, Oligoh... OMIM:614702
Congenital Atransferrinemia
Anemia ORPHA:1195
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after dental ... ORPHA:328
Familial Multiple Nevi Flammei
Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat... ORPHA:624
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Neonatal alloimmune thro... ORPHA:853
Immunodeficiency 81
Recurrent cutaneous abscess formation, Skin rash, Reduced natural killer cell activity, Reduced a... OMIM:619374
Glycogen Storage Disease Iv
Polyhydramnios, Portal hypertension, Edema, Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, ... OMIM:232500
Pseudomyxoma Peritonei
Ascites, Respiratory insufficiency, Lymphadenopathy ORPHA:26790
Lymphatic Malformation 12
Neonatal respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascit... OMIM:620014
Lujo Hemorrhagic Fever
Shock, Respiratory distress, Generalized edema, Skin rash, Maculopapular exanthema, Crackles, Exc... ORPHA:319213
Lethal Congenital Contracture Syndrome 5
Death in infancy, Polyhydramnios, Subdural hemorrhage, Retinal hemorrhage, Respiratory insufficiency OMIM:615368
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Rhabdoid Tumor
Thrombocytopenia, Hypertension, Internal hemorrhage, Anemia ORPHA:69077
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage, Pedal edema ORPHA:84090
Niemann-Pick Disease, Type A
Recurrent respiratory infections, Hepatomegaly, Foam cells with lamellar inclusion bodies, Bone-m... OMIM:257200
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desq... OMIM:265120
Farber Disease
Respiratory distress, CNS foam cells, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent u... ORPHA:333
Congenital Toxoplasmosis
Hepatomegaly, Ascites, Thrombocytopenia, Lymphadenopathy ORPHA:858
Hepatic Veno-Occlusive Disease
Hepatomegaly, Respiratory failure, Ascites ORPHA:890
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Ground-glass opacification, Respiratory tract infection, Dyspnea, Nonproductive cough,... ORPHA:1303
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Myocardial infarction, Microangiopathic hemolytic anemia, Arrhythmia, Thrombocyt... ORPHA:54057
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... OMIM:614074
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia ORPHA:163596
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Ascites, Thrombocytopenia ORPHA:2123
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Hepatomegaly, Splenomegaly, Dehydration, Cardiomyopathy, Stroke, Thrombocyt... ORPHA:79312
Lymphoproliferative Syndrome 2
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Decreased c... OMIM:615122
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Hepatomegaly, Discoid lupus rash, Atelectasis, Splenomegaly,... OMIM:306400
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke, Thrombocytopenia OMIM:615750
Primary Myelofibrosis
Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Th... ORPHA:824
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Hypersplenism, Abnormal pulmonary interstitial ... ORPHA:77259
Cholestasis, Progressive Familial Intrahepatic, 5
Death in infancy, Nonimmune hydrops fetalis, Prolonged prothrombin time, Pleural effusion, Ascites OMIM:617049
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart failure, Th... ORPHA:49827
Hemochromatosis, Type 1
Hepatomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Cardiomyopathy, Arrhythmia,... OMIM:235200
Cirrhotic Cardiomyopathy
Prolonged QT interval, Abnormal bleeding, Elevated jugular venous pressure, Hepatomegaly, Left ve... ORPHA:57777
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Abeta Amyloidosis, Iowa Type
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage ORPHA:324708
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia ORPHA:318
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Splenomegal... OMIM:608013
Hypophosphatasia, Infantile
Recurrent respiratory infections, Death in infancy, Apnea, Polyhydramnios, Intracranial hemorrhag... OMIM:241500
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... ORPHA:136
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... ORPHA:79127
Idiopathic Pulmonary Fibrosis
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... ORPHA:2032
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly OMIM:610539
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Maculopapular exanthema, Portal hypertension, Pruritus, Hypersplenis... ORPHA:98850
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Abnormal bleeding, Thrombocytopenia OMIM:314000
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Hypertrophic cardiomyopathy, Thromb... ORPHA:848
Relapsing Fever
Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Leukocytosis, Anemia, Leukopenia, Prolon... ORPHA:91547
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin, Thrombocytopenia ORPHA:141184
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Polyhydramnios, Perior... OMIM:616843
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Hepatomegaly, Portal hypertension, Absence of lymph node germin... ORPHA:79124
Pediatric Systemic Lupus Erythematosus
Skin rash, Edema, Raynaud phenomenon, Discoid lupus rash, Pericardial effusion, Dyspnea, Lymphade... ORPHA:93552
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia OMIM:615010
Idiopathic Bronchiectasis
Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Produ... ORPHA:60033
Acute Promyelocytic Leukemia
Abnormal bleeding, Pancytopenia, Petechiae, Epistaxis, Diffuse alveolar hemorrhage, Leukocytosis,... ORPHA:520
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... ORPHA:232
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Facial edema, Splenomegaly, Hydrops fetalis, Cardiomyopathy... OMIM:256550
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... OMIM:616414
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Babesiosis
Hemolytic anemia, Myocardial infarction, Splenomegaly, Congestive heart failure, Leukopenia, Thro... ORPHA:108
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Left axis deviation, Pericardial effusion, Co... OMIM:261740
Free Sialic Acid Storage Disease
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Hydrops fetalis, Ascites ORPHA:834
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Pulmonary embolism, Respiratory tract infection, Facial edema, Dyspnea, P... ORPHA:567546
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Hepatomegaly, Edema, Patent ductus arteriosus, Neonatal death, Ascites, Thrombo... OMIM:608104
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Generalized lymphadenopathy, Pulmonary embolism, Intracranial hemorrhage, C... ORPHA:3260
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Mgat2-Cdg
Abnormal bleeding, Respiratory distress, Patent ductus arteriosus, Hydrops fetalis, Decreased cir... ORPHA:79329
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... OMIM:610655
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Arterial stenosis ORPHA:820
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Acquired Purpura Fulminans
Shock, Skin rash, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal ... ORPHA:49566
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Nonimmune hydrops fetalis, Patent ductus arteriosus, Respiratory insufficiency,... OMIM:617021
Brain Small Vessel Disease 2
Intracranial hemorrhage OMIM:614483
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Cerebral hemorrhage, Subdural hemorrhage, Respiratory fai... OMIM:620278
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Edema, Pericardial effusion, Decreased circulating IgA level, Ab... ORPHA:90362
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Ground-glass opacif... OMIM:619611
Poems Syndrome
Thrombocytosis, Edema, Pericardial effusion, Respiratory insufficiency due to muscle weakness, Ab... ORPHA:2905
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal bleeding, Anemia of inadequate production, Leukocytosis, Retinal... ORPHA:86839
Isovaleric Acidemia
Thrombocytopenia, Cerebellar hemorrhage, Bone marrow hypocellularity, Dehydration OMIM:243500
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cel... OMIM:608233
Neonatal Lupus Erythematosus
Abnormal bleeding, Hemolytic anemia, Pancytopenia, Prolonged QT interval, Aplastic anemia, Heart ... ORPHA:398124
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Macrothrombocytopenia, Webbed neck, Decreased platelet glycoprotein Ib, Thr... OMIM:603585
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Nonimmune hydrops fetalis, Cardiomyopathy, Pulmonary hypoplasia, N... OMIM:619003
Tufted Angioma
Anemia, Petechiae, Thrombocytopenia, Purpura ORPHA:1063
Hepatoportal Sclerosis
Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Pruritus, Splenomegaly, Hype... ORPHA:64743
Imerslund-Gräsbeck Syndrome
Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic a... ORPHA:35858
Combined Oxidative Phosphorylation Deficiency 5
Death in infancy, Hypertrophic cardiomyopathy, Ascites, Edema OMIM:611719
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:613101
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Dural Sinus Malformation
Cerebral hemorrhage, Subarachnoid hemorrhage, Vascular dilatation, Cerebellar hemorrhage, Subdura... ORPHA:97339
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natural killer cell coun... OMIM:616050
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Med... ORPHA:133
Immunoneurologic Disorder, X-Linked
Neonatal death, Decreased circulating IgG2 level OMIM:300076
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Splenomegaly, Panacinar emphysema, Dyspnea, Chronic pulmonary obstruction, Br... OMIM:613490
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... ORPHA:91387
Hermansky-Pudlak Syndrome 11
Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Impaired collagen-ind... OMIM:619172
Propionic Acidemia
Hepatomegaly, Apnea, Eczema, Cerebellar hemorrhage, Tachypnea, Dehydration, Cardiomyopathy, Throm... OMIM:606054
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Petechiae, Eosinophilia, Autoimmune thr... OMIM:603909
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Hypertension, Pulmonary hypoplasia, Oligohydramnios OMIM:616733
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Hepatomeg... OMIM:232300
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Respiratory distress OMIM:615993
Gaucher Disease, Type I
Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral regurgitation,... OMIM:230800
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Ground-glass opacification, Nonproductive... ORPHA:1302
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis OMIM:619462
Sneddon Syndrome
Cerebral hemorrhage, Decreased circulating total IgM, Hypertension, Stroke, Ischemic stroke OMIM:182410
Mulibrey Nanism
Hepatomegaly, Congestive heart failure, Hydrops fetalis, Recurrent lower respiratory tract infect... OMIM:253250
Transaldolase Deficiency
Thrombocytopenia, Telangiectasia, Anemia, Hepatosplenomegaly ORPHA:101028
Preeclampsia
Hypertension, Elevated systolic blood pressure, Thrombocytopenia, Elevated diastolic blood pressure ORPHA:275555
Wiskott-Aldrich Syndrome
Sinusitis, Intracranial hemorrhage, Hypoplasia of the thymus, Internal hemorrhage, Prolonged blee... ORPHA:906
Splenoportal Vascular Anomalies
Splenomegaly, Ascites OMIM:271500
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Anemia, Leukopenia, Cardiomyopathy, Thrombocytopenia ORPHA:27
Chylous Ascites
Ascites, Lymphedema ORPHA:1160
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Impaired platelet aggregation, Duodenal ulcer OMIM:618372
Orthostatic Hypotension 2
Orthostatic hypotension, Anemia OMIM:618182
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Thrombocytopenia ORPHA:67048
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Pericarditis, Leukopenia OMIM:152700
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Abnormal pleura morphology, Crackles, Dyspnea, Hepatosplenomegaly, Restricti... ORPHA:210136
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension, Anemia OMIM:611489
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Chronic noninfectious lymphadenopathy, Right ventricular failure, Dyspnea, Heart mu... ORPHA:100085
Lymphoid Interstitial Pneumonia
Crackles, Cough, Decreased DLCO, Multiple pulmonary cysts, Hepatomegaly, Respiratory tract infect... ORPHA:79128
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... OMIM:615631
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Cardiomyopathy, Arrhythmia, Throm... OMIM:249270
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacif... ORPHA:99931
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Anemia OMIM:618116
Leishmaniasis
Abnormal bleeding, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia... ORPHA:507
Eosinophilic Gastroenteritis
Allergic rhinitis, Edema, Asthma, Atopic dermatitis, Hematochezia, Ascites ORPHA:2070
Lymphangiectasia, Intestinal
Edema, Pedal edema, Stillbirth, Intestinal lymphangiectasia, Decreased circulating IgG level OMIM:152800
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia, Petechiae OMIM:611490
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Immunodeficiency 91 And Hyperinflammation
Death in infancy, Hepatomegaly, Maculopapular exanthema, Edema, Recurrent pneumonia, Abnormal pul... OMIM:619644
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Ascites, Decreased circulating antibody level OMIM:301045
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil... ORPHA:90068
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Ovarian Hyperstimulation Syndrome
Generalized edema, Hypovolemia, Capillary leak, Peripheral edema, Pleural effusion, Ascites, Pulm... ORPHA:64739
Congenital Sialidosis Type 2
Abnormal EKG, Hepatomegaly, Edema, Respiratory tract infection, Telangiectasia, Hepatosplenomegal... ORPHA:93400
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Thrombocy... OMIM:251000
Specific Granule Deficiency 2
Absent neutrophil specific granules, Death in infancy, Neutropenia, Anemia, Death in childhood, T... OMIM:617475
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Hepatomegaly, Tricuspid regurgitation, Atrial fibrillation, Ort... ORPHA:75249
Zygomycosis
Sinusitis, Periorbital edema, Acute infectious pneumonia, Air crescent sign, Cough, Unusual skin ... ORPHA:73263
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Diamond-Blackfan Anemia 9
Anemia OMIM:613308
Primary Angiitis Of The Central Nervous System
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis ORPHA:140989
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Stormorken Syndrome
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Anemia, Hyp... OMIM:185070
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia, Supravalvular aortic stenosis OMIM:618624
Wyburn-Mason Syndrome
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... ORPHA:53719
Diarrhea 10, Protein-Losing Enteropathy Type
Death in infancy, Polyhydramnios, Pericardial effusion, Recurrent upper respiratory tract infecti... OMIM:618183
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Neoplasm of the lung, Ascites ORPHA:83469
Leukocyte Adhesion Deficiency, Type Iii
Abnormal bleeding, Extramedullary hematopoiesis, Petechiae, Epistaxis, Abnormality of thrombocyte... OMIM:612840
Ovarian Hyperstimulation Syndrome
Ascites OMIM:608115
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Pedal edema, Lymphadenopathy, Decreased circulating antibody level, B... ORPHA:381
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios, Edema ORPHA:1423
Immunodeficiency 22
Decreased circulating IgG level, Pericarditis, Recurrent upper respiratory tract infections, Capi... OMIM:615758
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Thrombocytopenia, Anemia OMIM:619151
Mucopolysaccharidosis Type 7
Recurrent respiratory infections, Abnormal pleura morphology, Lymphedema, Splenomegaly, Hydrops f... ORPHA:584
Sea-Blue Histiocytosis
Abnormal bleeding, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Petechiae ORPHA:158029
Anemia, Hypochromic Microcytic, With Iron Overload 1
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia OMIM:206100
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Ascites OMIM:608776
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of neutrophils, Thrombocytopenia, Abnormal lym... ORPHA:229717
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia OMIM:615085
Aicardi-Goutieres Syndrome 4
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Death in childhood, Thrombocytopenia OMIM:610333
Hermansky-Pudlak Syndrome 8
Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival bleeding, Excessive ble... OMIM:614077
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Neoplasm of the lung, S... ORPHA:142
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Pulmonary infiltrates, Lym... ORPHA:139411
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Congenital Enterovirus Infection
Abnormal bleeding, Respiratory distress, Skin rash, Polyhydramnios, Fetal ascites, Pericardial ef... ORPHA:292
Thrombocytopenia 3
Thrombocytopenia, Petechiae, Epistaxis, Decreased mean platelet volume OMIM:273900
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia OMIM:612925
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, Pulmon... ORPHA:330012
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Solar Urticaria
Edema, Pruritus, Periorbital edema, Angioedema, Dyspnea, Wheezing, Syncope ORPHA:97230
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Hypotensio... ORPHA:340
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Death in infancy, Periorbital edema, Atelectasis, Vascular dilatation, Recurren... OMIM:613177
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Supraventricul... ORPHA:97214
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Subdural hemorrh... OMIM:618291
Malignant Peritoneal Mesothelioma
Dyspnea, Ascites, Pedal edema ORPHA:168811
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Polycyth... OMIM:600376
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... ORPHA:280679
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Death in infancy, Polyhydramnios, Lymphedema, Thyroid lymphangiectasia, Splenomegal... OMIM:235255
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Increased mean cor... ORPHA:98870
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Increased circulating IgG level, Morbill... ORPHA:99827
Sitosterolemia 1
Abnormal bleeding, Carotid artery stenosis, Splenomegaly, Giant platelets, Impaired platelet aggr... OMIM:210250
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Pruritus, Atelectasis, Increased circulating... ORPHA:2314
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Orthopnea, Transient ischemic attack, Thoracic aortic aneurys... ORPHA:365
Hellp Syndrome
Generalized edema, Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleural effusion... ORPHA:244242
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... OMIM:226990
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Abnormality of thrombocytes, Anemia, Purpura ORPHA:3204
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... ORPHA:99105
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu... OMIM:613011
Ciliary Dyskinesia, Primary, 1
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyski... OMIM:244400
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... OMIM:177850
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Abnormal T-wave, Dilate... ORPHA:563
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Bronchitis, Intraventricular... ORPHA:420741
Reynolds Syndrome
Hepatomegaly, Telangiectasia of the skin, Skin rash, Pruritus, Xerostomia, Respiratory insufficie... ORPHA:779
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Cerebral arteriovenous malformation, Telangiectasia, Hematochezia, Mitral regurgitatio... OMIM:175050
Scimitar Syndrome
Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, ... ORPHA:185
Necrotizing Enterocolitis
Shock, Apnea, Edema, Bradycardia, Hypotension, Ascites, Thrombocytopenia ORPHA:391673
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Respiratory distress, Prominent superf... ORPHA:363705
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... OMIM:300751
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Pulmonary insuff... OMIM:245650
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Q Fever
Respiratory distress, Hepatomegaly, Pericarditis, Maculopapular exanthema, Pneumonia, Pericardial... ORPHA:781
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Polyhydramnios, Edema, Atelectasis, Splenomegaly, Patent ductus arteriosus, Respira... OMIM:269860
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Pleural effusion, Pulmonary hypoplasia, Hypertrophic cardiomyopa... OMIM:616897
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Stroke, Cerebral hemorrhage OMIM:300049
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Lymphedema, Dyspnea, Bronchiectasis, Neoplasm of the... ORPHA:662
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Mitochondrial Trifunctional Protein Deficiency 2
Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re... OMIM:620300
Aregenerative Anemia
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased ... ORPHA:101096
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... ORPHA:422
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... ORPHA:98849
Sengers Syndrome
Cardiac arrest, Sudden cardiac death, Pulmonary arterial hypertension, Hypertrophic cardiomyopath... OMIM:212350
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Hepatomegaly, Dilated cardiomyopathy, Tachypnea, Respirat... OMIM:614299
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Abnormal pulmonary inters... OMIM:617180
Hemochromatosis, Type 2B
Splenomegaly, Congestive heart failure, Anemia, Cardiomyopathy OMIM:613313
Drug-Induced Lupus Erythematosus
Pericarditis, Petechiae, Anemia, Prolonged QTc interval, Thrombocytopenia ORPHA:231111
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Hypotension, Cough ORPHA:99825
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Bilateral lung agenesi... OMIM:601612
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy ORPHA:26792
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Hepatomegaly, Hypertrophic cardiomyopathy, Respiratory insufficiency due to... OMIM:613561
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Mitral regurgitation, Neonatal d... OMIM:620244
Thrombocytopenia 6
Abnormal bleeding, Spontaneous, recurrent epistaxis, Thrombocytopenia OMIM:616937
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ischemia, Arteritis... ORPHA:494424
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Vasculitis, Lymphocytosis, Hemophagocytosis, Neutrop... OMIM:308240
Hemochromatosis, Type 3
Cardiomyopathy, Neutropenia, Lymphopenia, Anemia, Purpura OMIM:604250
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Focal Facial Dermal Dysplasia Type Iv
Intracranial hemorrhage, Abnormal mast cell morphology ORPHA:398189
Mitochondrial Complex I Deficiency, Nuclear Type 20
Death in infancy, Congestive heart failure, Dilated cardiomyopathy, Death in childhood, Hypertrop... OMIM:611126
Perching Syndrome
Respiratory distress OMIM:617055
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Hennekam Syndrome
Recurrent respiratory infections, Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymph... ORPHA:2136
Meige Disease
Recurrent bacterial skin infections, Recurrent skin infections, Predominantly lower limb lymphede... ORPHA:90186
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Ascites, Pericarditis, Pleuritis, Mitral regurgitation ORPHA:2848
Cerebral Amyloid Angiopathy, App-Related
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... OMIM:605714
Atelis Syndrome 1
Leukopenia, Thrombocytopenia, Anemia OMIM:620184
Thrombocytopenia 1
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Bruising susceptibility... OMIM:313900
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Wolman Disease
Splenomegaly, Hepatomegaly, Ascites, Bone-marrow foam cells ORPHA:75233
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... ORPHA:100026
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Aspiration, Respiratory insufficiency, Cardiomyopathy, Respiratory ... ORPHA:258
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Ovarian Fibroma
Pleural effusion, Ascites ORPHA:314473
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Tetralogy of Fallot, Arteriovenous malformation... ORPHA:974
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Ascites ORPHA:131
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia ORPHA:464453
Thymic Carcinoma
Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Dyspnea, Cough, Abno... ORPHA:99868
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Th... ORPHA:99901
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Leukoencephalopathy With Calcifications And Cysts
Stroke, Cerebral hemorrhage ORPHA:542310
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... OMIM:618773
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Re... ORPHA:85451
Cholestasis, Progressive Familial Intrahepatic, 3
Pruritus, Hepatomegaly, Ascites, Splenomegaly OMIM:602347
Parkes Weber Syndrome
Abnormal bleeding, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arterioven... ORPHA:90307
Menkes Disease
Intracranial hemorrhage, Death in childhood OMIM:309400
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Mogs-Cdg
Respiratory distress, Hepatomegaly, Generalized edema, Hypoventilation, Apnea, Polyhydramnios, Ed... ORPHA:79330
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Adult Acute Respiratory Distress Syndrome
Shock, Pneumonia, Dyspnea, Vasculitis, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abn... ORPHA:70578
American Trypanosomiasis
Hepatomegaly, Skin rash, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Splenom... ORPHA:3386
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Spider hemangioma, Splenomegaly, Increased circulating IgG level, In... ORPHA:2137
Aortic Arch Interruption
Respiratory distress, Tachypnea, Pedal edema, Aortopulmonary window, Absent pulse, Tricuspid regu... ORPHA:2299
Formiminoglutamic Aciduria
Anemia, Megaloblastic anemia ORPHA:51208
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ... ORPHA:99103
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:94080
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Congestive heart failure, Dehydration, Cardiomyopathy, Mitral... OMIM:212140
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Gracile Bone Dysplasia
Asplenia, Death in infancy, Hypoplastic spleen, Ascites OMIM:602361
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Ventilato... ORPHA:254864
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Dyspnea, Respiratory failure ORPHA:2759
Acute Radiation Syndrome
Abnormal bleeding, Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia ORPHA:454831
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Niemann-Pick Disease, Type C2
Death in infancy, Hepatomegaly, Neonatal respiratory distress, CNS foam cells, Fetal ascites, Pol... OMIM:607625
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Hemothor... ORPHA:2038
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopeni... OMIM:235400
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Skin rash, Pustule, Splenomegaly, Joint swelling, Pulmonary f... OMIM:612852
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:403
Familial Mediterranean Fever
Pericarditis, Skin rash, Myocardial infarction, Splenomegaly, Vasculitis, Pedal edema, Lymphadeno... ORPHA:342
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency... OMIM:618278
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Respirato... ORPHA:308552
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura OMIM:620296
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia, Death in childhood OMIM:615597
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Stridor ORPHA:97285
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hepatomegaly, Skin rash, Myoc... ORPHA:809
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hepatomegaly, Tachycardia, Inflammatory abnormality of the skin, Respirato... ORPHA:26793
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Anemia, Leukopenia, Pulmonary arterial hypertension, Thrombocytopenia OMIM:613845
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress OMIM:615042
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Hepatomegaly, Cardiac arrest, Hypertrophic cardiomyopathy... OMIM:604377
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Hepatomegaly, Intercostal retractions, Crackles, ... ORPHA:1329
Blue Rubber Bleb Nevus
Iron deficiency anemia, Intestinal bleeding, Thrombocytopenia OMIM:112200
Diamond-Blackfan Anemia 20
Erythroid hypoplasia, Anemia OMIM:618313
Mirage Syndrome
Thrombocytopenia, Patent ductus arteriosus, Intracranial hemorrhage, Aspiration pneumonia, Hypopl... OMIM:617053
Alg8-Cdg
Edema, Hydrops fetalis, Ascites, Thrombocytopenia, Oligohydramnios ORPHA:79325
Succinic Acidemia
Respiratory distress OMIM:600335
Cardiomyopathy, Dilated, 2H
Neonatal death, Reduced left ventricular ejection fraction, Tachypnea, Cardiorespiratory arrest OMIM:620203
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness, Oligohydramnios ORPHA:1143
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Telangiectasia OMIM:608799
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Recurrent bronchopulmonary ... OMIM:617303
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia OMIM:231000
Vascular Hyalinosis
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage OMIM:277175
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Hypertension, Epistaxis ORPHA:404
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension... OMIM:300845
Neurocutaneous Melanocytosis
Intracranial hemorrhage, Death in infancy ORPHA:2481
Fraser Syndrome 3
Nonimmune hydrops fetalis, Abnormal lung lobation, Stillbirth, Ascites, Oligohydramnios OMIM:617667
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Transient ischemic attack, Myocardial infarction, Schistocytosis, Microangiopath... OMIM:274150
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Cardiomyopathy, Anemia, Death in infancy OMIM:618839
Chondrodysplasia, Blomstrand Type
Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth, Preductal coarctation of the aorta OMIM:215045
Combined Oxidative Phosphorylation Deficiency 40
Neonatal death, Death in infancy, Hypertrophic cardiomyopathy, Anemia OMIM:618835
Intrahepatic Cholestasis Of Pregnancy
Neonatal respiratory distress, Skin rash, Pruritus, Pruritus on foot, Palmar pruritus, Ascites ORPHA:69665
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly OMIM:614741
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Chilblains, Portal hypertension, Edema, Pericardial effusion, Hepatos... OMIM:619487
Abeta Amyloidosis, Dutch Type
Death in early adulthood, Stroke, Cerebral hemorrhage ORPHA:100006
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis ORPHA:896
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgi... OMIM:612561
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time,... ORPHA:335
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Splenom... OMIM:615512
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Pulmonary venous hypertension, Anemia ORPHA:90060
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Thoracic aortic aneurysm, Repeated pneumothoraces, Atelectasis, Respiratory... ORPHA:536467
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, Polyhydramnios, First degree atriovent... OMIM:160900
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenitis, Recurrent upper re... ORPHA:51636
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Cardiomyopathy, Dyspnea, Cough ORPHA:86812
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Chédiak-Higashi Syndrome
Abnormal bleeding, Recurrent respiratory infections, Recurrent bacterial skin infections, Skin ra... ORPHA:167
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage ORPHA:251274
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... OMIM:616860
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Antisynthetase Syndrome
Aortic regurgitation, Recurrent respiratory infections, Skin rash, Telangiectasia of the skin, Ed... ORPHA:81
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir... ORPHA:60025
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Hepatomegaly, Neonatal respiratory distress, Apnea, Dilated cardiomyopathy, Res... OMIM:608836
Bacterial Toxic-Shock Syndrome
Shock, Respiratory distress, Tachycardia, Sinusitis, Skin rash, Pneumonia, Recurrent skin infecti... ORPHA:36234
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Thrombocytopenia, Sp... OMIM:214500
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia, Petechiae, Purpura OMIM:605432
Ovarian Fibrothecoma
Pleural effusion, Ascites ORPHA:314478
Congenital Rubella Syndrome
Splenomegaly, Thrombocytopenia, Anemia ORPHA:290
Wolfram Syndrome 1
Sideroblastic anemia, Cardiomyopathy, Thrombocytopenia, Megaloblastic anemia OMIM:222300
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... OMIM:304790
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress OMIM:620011
Hypoglossia With Situs Inversus
Asplenia, Upper airway obstruction, Respiratory distress, Polysplenia OMIM:612776
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Inhalational Anthrax
Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension ORPHA:247257
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Cough, Morbilli... ORPHA:228123
Intermediate Osteopetrosis
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:210110
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Cholesteryl Ester Storage Disease
Death in infancy, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, S... OMIM:278000
Absence Of The Pulmonary Artery
Abnormal pulmonary thoracic imaging finding, Abnormal coronary artery morphology, Nonproductive c... ORPHA:980
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Miscarriage, Anisocytosis, Sph... ORPHA:71275
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Death in infancy, Intraventricular hemorrhage, Death in adolescence, Prolonged prothrombin time, ... OMIM:619055
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Prolonged bleeding time, Autoimmune h... OMIM:301000
Sepsis In Premature Infants
Abnormal bleeding, Tachycardia, Petechiae, Splenomegaly, Leukocytosis, Anemia, Bradycardia, Hypot... ORPHA:90051
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... OMIM:211530
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... ORPHA:363618
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... ORPHA:369929
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Boutonneuse Fever
Leukopenia, Vasculitis, Petechiae, Thrombocytopenia ORPHA:83313
Felty Syndrome
Pericarditis, Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia ORPHA:47612
Ebola Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Melena, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Acys Amyloidosis
Death in early adulthood, Stroke, Cerebral hemorrhage ORPHA:100008
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Respiratory distress, Polyhydramnios, Congestive heart failure, Recurrent pneu... OMIM:616271
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f... ORPHA:330021
Prolidase Deficiency
Petechiae, Splenomegaly, Diffuse telangiectasia, Anemia, Thrombocytopenia OMIM:170100
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia OMIM:615234
Familial Pseudohyperkalemia
Reticulocytosis, Hypertension, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Schimke Immunoosseous Dysplasia
Pancytopenia, Transient ischemic attack, Abnormal T cell morphology, Anemia, Hypertension, Cerebr... OMIM:242900
Hydatidiform Mole
Miscarriage, Anemia ORPHA:99927
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Pruritus, Splenomegaly, Ascites OMIM:617394
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Normochromic anemia, Bradycardia, Hypertrophic cardiomyopathy, Thro... OMIM:618775
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure... ORPHA:508542
Kasabach-Merritt Syndrome
Reticulocytosis, Petechiae, Thrombocytopenia, Leukopenia, Prolonged prothrombin time, Microangiop... ORPHA:2330
Tarp Syndrome
Neonatal death, Tetralogy of Fallot, Subdural hemorrhage, Oligohydramnios OMIM:311900
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hepatomegaly, Stroke, Cerebral ischemia ORPHA:927
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Polyhydramnios, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectas... ORPHA:1655
Familial Hemophagocytic Lymphohistiocytosis
Petechiae, Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Ecchymosis, Bruising susceptibili... ORPHA:540
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Congenital Tracheal Stenosis
Respiratory distress, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Neonatal asphyxi... ORPHA:141127
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra... OMIM:301078
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Respiratory failure, Stillbirth, Ascites, Thrombo... OMIM:259720
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Polyhydramnios, Congestive heart failure, Ascites OMIM:617156
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Leukocyte Adhesion Deficiency
Abnormal bleeding, Sinusitis, Recurrent skin infections, Lymphocytic interstitial pneumonia, Pneu... ORPHA:2968
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave ORPHA:231625
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Classic Galactosemia
Hepatomegaly, Ascites ORPHA:79239
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... OMIM:614370
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Increased nuchal translucency, Fetal intraventricular hemorrhage, Oligohydramnios OMIM:618480
22Q11.2 Deletion Syndrome
Impaired T cell function, Polyhydramnios, Abnormal lung lobation, Abnormal aortic arch morphology... ORPHA:567
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Precocious atherosclerosis, Pruritus, Hypersplenism, Hypovolemia, Dehydra... ORPHA:275761
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... OMIM:224120
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hypoventilation, Spontaneous pneumothorax, Portal hypertension, Hype... ORPHA:731
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Oligohydramnios ORPHA:261304
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosi... ORPHA:79456
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Thrombocytopenia, Congestive heart failure, Hypertension, Decreased pr... ORPHA:1830
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... ORPHA:158061
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Odontochondrodysplasia
Respiratory distress, Death in infancy, Patent ductus arteriosus ORPHA:166272
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Cirrhosis, Familial
Hypertension, Ascites, Pulmonary arterial hypertension OMIM:215600
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Crackles, Right ven... ORPHA:99095
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Pulmonary hypoplas... OMIM:620369
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Polyhydramnios, Edema, Patent ductus arteriosus, Recurrent upper respirator... OMIM:607143
Transaldolase Deficiency
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Telangiectasia, Thrombocytopenia OMIM:606003
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Bruising susceptibility, HbH hemoglobin, Microcytic anemia ORPHA:98791
Proteasome-Associated Autoinflammatory Syndrome 2
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytopenia OMIM:618048
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Death in infancy, Anemia, Death in childhood OMIM:614946
Neuroendocrine Tumor Of Stomach
Tricuspid regurgitation, Right ventricular failure, Hematemesis, Melena, Iron deficiency anemia, ... ORPHA:100075
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Polyhydramnios OMIM:202650
Zika Virus Disease
Miscarriage, Subcutaneous hemorrhage, Thrombocytopenia ORPHA:448237
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Abnormal bleeding, Skin rash, Thrombocytopenia, Abnormal resp... ORPHA:90062
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Splenomegaly, Ascites, Thrombocytopenia OMIM:251880
Leptospirosis
Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block,... ORPHA:509
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pulmonary hypoplasia, Polysplenia, Extrapulmonary sequestrum, Ascites OMIM:200995
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Cardiac arrest, Pustule, Myocarditis, Angioedema, Cough, Dyspnea, Pulmonary infiltrate... ORPHA:139402
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Leukocytosis, Hypotension, Arrhythmia ORPHA:188
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Cervical lymphadenopathy, Dilated cardiomyopathy, Hypertension, Anasarca, Third deg... OMIM:619573
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Holocarboxylase Synthetase Deficiency
Respiratory distress, Eczema, Tachypnea, Thrombocytopenia, Perioral eczema ORPHA:79242
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy OMIM:184260
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Vexas Syndrome
Macrocytic anemia, Arteritis, Thrombocytopenia OMIM:301054
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Hypotension ORPHA:369873
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Budd-Chiari syndrome, Lym... OMIM:127550
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia, Polyhydramnios OMIM:151210
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Isolated Atp Synthase Deficiency
Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:254913
Primary Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Spider hemangioma, Pruritus, Congestive heart failure, Splenom... ORPHA:171
Rajab Interstitial Lung Disease With Brain Calcifications 1
Portal hypertension, Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insuffici... OMIM:613658
Wilson Disease
Splenomegaly, Thrombocytopenia, Bruising susceptibility, Anemia ORPHA:905
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Lymphedema, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation,... ORPHA:109
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... ORPHA:275766
Shwachman-Diamond Syndrome 2
Normocytic anemia, Death in infancy, Neutropenia, Prolonged prothrombin time, Death in childhood,... OMIM:617941
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Gaisböck Syndrome
Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpuscular hemoglobin conce... ORPHA:90041
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Edema of the dorsum of feet, Edema of the dorsum of hands ORPHA:544503
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytos... OMIM:617718
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Noonan Syndrome
Lymphedema, Abnormality of the spleen, Abnormality of the lymphatic system, Abnormal platelet fun... ORPHA:648
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Congestive heart failure, Dyspnea, Heart murmur, Stroke, Cough, Dila... ORPHA:1054
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Nocardiosis
Respiratory distress, Pericarditis, Pneumonia, Productive cough, Lymphadenitis, Nonproductive cou... ORPHA:31204
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Pedal edema, Cardiorespiratory arrest... ORPHA:228116
Peripheral Primitive Neuroectodermal Tumor
Pruritus, Abnormal bleeding, Ascites, Pelvic mass ORPHA:370348
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... OMIM:612541
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Pulmonary hypoplasia, Hydrops fetalis OMIM:614091
Pediatric-Onset Graves Disease
Atrial fibrillation, Splenomegaly, Congestive heart failure, Neutropenia in presence of anti-neut... ORPHA:525731
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Hypoplastic spleen ORPHA:89844
Overlap Myositis
Raynaud phenomenon, Leukopenia, Hypertension, Pulmonary arterial hypertension, Thrombocytopenia ORPHA:206572
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Thrombocytopenia, Anemia, Neutropenia ORPHA:47
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fe... ORPHA:79282
Rift Valley Fever
Abnormal bleeding, Miscarriage, Hematemesis, Retinal hemorrhage, Anemia, Melena, Gingival bleedin... ORPHA:319251
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Splenomegaly, Myocarditis, Hypo... ORPHA:3452
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:3322
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Aspiration pneumonia, Ascites, Thrombocytopenia OMIM:301072
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Melena, Prolonged prothrombin time, Hype... OMIM:276700
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptibility, Thromboc... OMIM:600901
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Respiratory... OMIM:220110
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congesti... ORPHA:3342
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Neonatal deat... OMIM:616482
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Bradycardia, Stroke-like episode OMIM:619272
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Apnea, Polyhydramnios, Increased nuchal translucency, Abnormal lung lobatio... ORPHA:1052
Relapsing Polychondritis
Pericarditis, Myocarditis, Atelectasis, Dyspnea, Large vessel vasculitis, Cough, Abnormal pattern... ORPHA:728
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Intracranial hemorrhage, Hypertens... ORPHA:394
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Hepatomegaly OMIM:619383
Good Syndrome
Recurrent respiratory infections, Sinusitis, Recurrent skin infections, Mediastinal lymphadenopat... ORPHA:169105
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Leukocytosis, Thrombocytopenia ORPHA:83601
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke ORPHA:447788
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, Hemophagocytosis, Thrombocytopenia OMIM:267700
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Congenital Analbuminemia
Miscarriage, Edema, Facial edema, Pedal edema, Increased circulating antibody level, Low pulse pr... ORPHA:86816
Grfoma
Gastrointestinal hemorrhage, Hepatomegaly, Neoplasm of the thymus, Abnormal abdomen morphology, N... ORPHA:97261
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hepatomegaly, Tachycardia, Intermittent hyperventilation, Episodic tachypne... ORPHA:348
Cryptococcosis
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, ... ORPHA:1546
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Death in infancy, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:614576
Niemann-Pick Disease Type C
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Hydr... ORPHA:646
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension OMIM:614424
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Heart murmur, P... ORPHA:3309
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Hepatomegaly ORPHA:329178
Xfe Progeroid Syndrome
Hypertension, Ascites, Death in adolescence OMIM:610965
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Abnormality of T cell physiology, Generalized lymphadenopathy, Pericardial effusion... OMIM:181000
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Leukopenia, Neutropenia, Thrombocytopenia OMIM:613989
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Prolonged prothrombin time, H... OMIM:603553
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... ORPHA:158048
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Hepatomegaly, Pulmonary hypoplasia, Respiratory distress OMIM:231680
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptibility, Thromboc... OMIM:227650
Diaphanospondylodysostosis
Respiratory distress, Increased nuchal translucency, Respiratory insufficiency, Pulmonary hypopla... OMIM:608022
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con... ORPHA:505248
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251110
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cardiomyopathy, Thrombocytopenia OMIM:617710
Cog4-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Colchicine Poisoning
Respiratory distress, Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, Cardioresp... ORPHA:31824
Tetanus
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia ORPHA:3299
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... ORPHA:2929
Maternal Uniparental Disomy Of Chromosome 6
Miscarriage, Thrombocytopenia ORPHA:96181
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:276621
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent respiratory infections, Inflammatory abnormality of the skin, Pso... ORPHA:37042
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... ORPHA:2686
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Hematemesis, Splenomegaly, Dehydration, Hypertension, Pulmonar... OMIM:263200
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Wolcott-Rallison Syndrome
Hepatomegaly, Double outlet right ventricle, Ascites, Dehydration ORPHA:1667
Pyropoikilocytosis, Hereditary
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis OMIM:266140
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,... ORPHA:137914
Nasolacrimal Duct Cyst
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... ORPHA:141083
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Osteopetrosis, Autosomal Recessive 1
Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia OMIM:259700
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Ivic Syndrome
Leukocytosis, Arrhythmia, Thrombocytopenia ORPHA:2307
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Moyamoya phenomenon ORPHA:401986
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Leukopenia, Prolonged prothrombin time, Hyp... ORPHA:20
Combined Oxidative Phosphorylation Deficiency 25
Intraventricular hemorrhage, Aspiration pneumonia OMIM:616430
Aicardi-Goutieres Syndrome 1
Splenomegaly, Thrombocytopenia, Vasculitis, Cardiomyopathy, Petechiae, Purpura OMIM:225750
Primary Biliary Cholangitis
Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Pruritus, Increase... ORPHA:186
Scrub Typhus
Abnormal bleeding, Splenomegaly, Myocarditis, Hypotension ORPHA:83317
Lig4 Syndrome
Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia, Telangiectasia OMIM:606593
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Iron deficiency anemia, Palpit... ORPHA:100078
Caroli Disease
Hepatomegaly, Portal hypertension, Pruritus, Splenomegaly, Ascites ORPHA:53035
Marburg Hemorrhagic Fever
Abnormal bleeding, Lymphopenia, Reticulocytosis, Shock, Petechiae, Tachycardia, Pericarditis, Exc... ORPHA:99826
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Hypertension, Microangiopat... ORPHA:90038
Generalized Arterial Calcification Of Infancy
Respiratory distress, Medial calcification of large arteries, Transient ischemic attack, Edema, P... ORPHA:51608
Lead Poisoning
Miscarriage, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Hypertension, Anemia ORPHA:330015
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Plague
Abnormal bleeding, Chapped lip, Tachycardia, Hepatomegaly, Skin rash, Respiratory distress, Edema... ORPHA:707
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hemolytic anemia, Thrombocytopenia ORPHA:169090
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor... ORPHA:447
Bartter Syndrome, Type 2, Antenatal
Polyhydramnios, Impaired platelet aggregation, Low-to-normal blood pressure, Dehydration OMIM:241200
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Death in childhood, Neut... OMIM:557000
Noonan Syndrome 4
Abnormal bleeding, Pulmonic stenosis, Hypertrophic cardiomyopathy, Bruising susceptibility, Throm... OMIM:610733
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Tachypn... ORPHA:31826
Achondroplasia
Respiratory distress, Death in infancy, Polyhydramnios, Upper airway obstruction, Pulmonary hypop... OMIM:100800
Digeorge Syndrome
Acne, Impaired T cell function, Seborrheic dermatitis, Atelectasis, Splenomegaly, Recurrent pneum... OMIM:188400
Listeriosis
Respiratory distress, Unusual skin infection, Pericarditis, Miscarriage, Pneumonia, Pustule, Cong... ORPHA:533
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... OMIM:171300
Diamond-Blackfan Anemia 21
Aortic regurgitation, Erythroid hypoplasia, Thrombocytopenia, Anemia OMIM:620072
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia OMIM:616433
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia... OMIM:610377
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia OMIM:277380
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Hypertension, Anemia OMIM:174000
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Analbuminemia
Hypotension OMIM:616000
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... ORPHA:209905
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Generalized edema OMIM:271225
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Cutis Marmorata Telangiectatica Congenita
Telangiectasia of the skin, Patent ductus arteriosus, Arterial stenosis, Arteriovenous malformati... ORPHA:1556
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Respiratory distress, Sudden cardi... ORPHA:537
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Hypertension, Hypotension ORPHA:134
Legionnaires Disease
Pericarditis, Myocarditis, Splenomegaly, Hypotension, Arrhythmia, Lymphopenia ORPHA:549
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Hematochezia, Anemia ORPHA:329971
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Thrombocytopenia, Lymphopenia, Anemia OMIM:617591
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... ORPHA:300298
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Fanconi Anemia, Complementation Group C
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptibility, Thromboc... OMIM:227645
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Death in infancy, Thrombocytopenia OMIM:208085
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Bradycardia ORPHA:226313
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Sudden cardiac death, Myocardial infarction, Abnormality of neutroph... ORPHA:36426
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Bronchitis, Episodic resp... ORPHA:1199
Gaucher Disease, Type Ii
Splenomegaly, Thrombocytopenia, Anemia, Death in infancy OMIM:230900
Arteriosclerosis, Severe Juvenile
Hypertension, Myocardial infarction, Anemia OMIM:208060
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Bilateral trilobed lung, Hepatomegaly, Polyhydramnios, Asplenia, Patent duc... OMIM:306955
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Perry Syndrome
Hypotension ORPHA:178509
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Abnormal left ventricular function, Leukopenia, Pulmonic stenosis, Thrombocytopenia OMIM:301056
Senior-Boichis Syndrome
Portal hypertension, Hepatosplenomegaly, Hypertension, Carotid artery dilatation, Ascites ORPHA:84081
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Patent ductus arteriosus, Respiratory insufficiency, Heart murmur, Intracranial hemorrhage, Inter... ORPHA:163979
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Shigellosis
Abscess, Myocarditis, Leukocytosis, Hypovolemic shock, Microangiopathic hemolytic anemia, Splenic... ORPHA:810
Methylmalonic Aciduria, Cbla Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251100
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Neuroleptic Malignant Syndrome
Tachycardia, Hypertensive crisis, Pulmonary embolism, Leukocytosis, Hypertension, Bradycardia, Hy... ORPHA:94093
Cutaneous Mastocytoma
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Sudden episodic apnea, Polyhydramnios, Intermittent episodes of... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Sudden episodic apnea, Polyhydramnios, Intermittent episodes of... ORPHA:98914
Medulloblastoma
Neoplasm of the lung, Cerebellar hemorrhage ORPHA:616
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Atelis Syndrome 2
Supravalvar pulmonary stenosis, Anemia, Vitreous hemorrhage, Pulmonic stenosis, Thrombocytopenia OMIM:620185
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Polyhydramnios, Patent ductus arteriosus, Stroke, Splenic cyst OMIM:618188
Dpagt1-Cdg
Prolonged QT interval, Hepatomegaly, Stroke-like episode, Intracranial hemorrhage, Anasarca, Pulm... ORPHA:86309
Castleman Disease
Restrictive cardiomyopathy, Decreased mean corpuscular volume, Thrombocytopenia, Anemia ORPHA:160
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Hereditary Pheochromocytoma-Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... ORPHA:29072
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Death in infancy, Tricuspid regurgitation, Splenomegaly, Leu... OMIM:300972
Pseudo-Torch Syndrome 1
Splenomegaly, Petechiae, Thrombocytopenia OMIM:251290
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Congestive heart failure, Neutropenia i... ORPHA:391487
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Palpebral edema, Polyhydramnios ORPHA:50810
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Lysinuric Protein Intolerance
Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia, Pulmonary hemorrhage OMIM:222700
Nephronophthisis 1
Hypertension, Anemia OMIM:256100
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Orthostatic hypotension, Eosinophilia, Hypotension ORPHA:199299
Vipoma
Hepatomegaly, Respiratory insufficiency due to muscle weakness, Abnormal abdomen morphology, Dehy... ORPHA:97282
Gallbladder Neuroendocrine Tumor
Ascites, Chronic noninfectious lymphadenopathy ORPHA:100086
Wilson Disease
Hepatomegaly, Edema, Splenomegaly, Pedal edema, Ascites, Thrombocytopenia OMIM:277900
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Death in infancy, Atelectasis, Dehydration, Respiratory insuffi... ORPHA:534
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... ORPHA:100082
Perlman Syndrome
Polyhydramnios, Edema, Interrupted aortic arch, Ascites, Visceromegaly OMIM:267000
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... OMIM:618426
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Intracranial hemorrhage, Hypertension, Acne ORPHA:90795
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Hypotension, Facial tel... ORPHA:100080
Chronic Graft Versus Host Disease
Dyspnea, Wheezing, Pneumothorax, Xerostomia, Bronchiectasis, Pulmonary infiltrates, Bronchiolitis... ORPHA:99921
Yellow Fever
Abnormal bleeding, Shock, Neutrophilia, Supraventricular arrhythmia, Excessive bleeding after a v... ORPHA:99829
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Cockayne Syndrome Type 3
Hepatomegaly, Splenomegaly, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic root ... ORPHA:90324
Japanese Encephalitis
Respiratory distress, Irregular respiration, Increased circulating IgM level, Respiratory paralys... ORPHA:79139
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aortic regurgitation, Recurrent respiratory infections, Hepatomegaly, Tricuspid regurgitation, Le... OMIM:619534
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Asplenia, Patent ductus arteriosus, Pulmonary arterial hypertension, Aortic... ORPHA:210122
Recon Progeroid Syndrome
Thrombocytopenia, Anemia OMIM:620370
Brucellosis
Pericarditis, Liver abscess, Lung abscess, Transient ischemic attack, Miscarriage, Hypersplenism,... ORPHA:1304
Diamond-Blackfan Anemia 1
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... OMIM:105650
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Death in childhood, Anemia OMIM:616457
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Mixed total anomalous pulmonary venous connection, Apneic episodes in infan... ORPHA:99125
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Hematemesis, Splenomegaly, Vasculitis, Anemia, Hematochezia, Hype... OMIM:615846
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Retinal telangiectasia, Anemia, Intestinal bleeding, Gastrointestinal telangiectasia, Thrombocyto... OMIM:612199
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia OMIM:308230
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Decreased heart rate variability, Thrombocytopenia, Death in ... OMIM:619005
Fanconi Anemia, Complementation Group B
Death in infancy, Aplastic anemia, Thrombocytopenia OMIM:300514
Functioning Gonadotropic Adenoma
Ascites ORPHA:91348
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Bruising susceptibility, Arterial rupture, Thrombocytopenia OMIM:612394
Menkes Disease
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... ORPHA:565
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Giant platelets, Anemia OMIM:611209
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Intraventricular hemorrhage, Polyhydramnios OMIM:613603
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage ORPHA:25
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Increased circulating IgG level,... OMIM:619472
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatomegaly, Stridor OMIM:615595
Caroli Syndrome
Abnormal bleeding, Liver abscess, Portal hypertension, Hypersplenism, Hematemesis, Leukocytosis, ... ORPHA:480520
Glucagonoma
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Pruritus, Abnormal abdomen morphology, Ascites ORPHA:97280
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:613990
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic... ORPHA:740
Meacham Syndrome
Accessory spleen, Death in infancy, Patent ductus arteriosus, Partial anomalous pulmonary venous ... OMIM:608978
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Cardiac conduction abnormality, Dehydration, Aspiration, Cardiomyopa... ORPHA:2131
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent skin infections, Pneumonia, Edema, Dyspnea, Dilated cardiomyopath... ORPHA:79404
Pituitary Apoplexy
Hypertension, Normochromic anemia, Hypotension ORPHA:95613
Meningococcal Meningitis
Shock, Petechiae, Hypotension, Purpura ORPHA:33475
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Polyhydramnios ORPHA:990
Ppoma
Gastrointestinal hemorrhage, Hepatomegaly, Ascites, Abnormal abdomen morphology ORPHA:97278
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Fanconi Anemia, Complementation Group F
Leukopenia, Thrombocytopenia, Anemia OMIM:603467
Alport Syndrome 1, X-Linked
Hypertension, Thrombocytopenia OMIM:301050
Cogan Syndrome
Aortic regurgitation, Leukocytosis, Vasculitis, Large vessel vasculitis, Thrombocytosis, Anemia ORPHA:1467
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Patent ductus arteriosus, Tricuspid regurgitation, Respiratory dist... OMIM:612863
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Moebius Syndrome
Respiratory distress OMIM:157900
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension, Patent ductus arteriosus ORPHA:2519
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypertension, Abnormal platelet function ORPHA:79443
Systemic Lupus Erythematosus
Hemolytic anemia, Raynaud phenomenon, Leukopenia, Hypertension, Thrombocytopenia ORPHA:536
Infantile Krabbe Disease
Abnormal heart rate variability, Cherry red spot of the macula, Respiratory failure, Respiratory ... ORPHA:206436
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Anemia, Pulmonary arterial hypertension, Thrombocytopenia ORPHA:77261
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Methylmalonic Acidemia With Homocystinuria Type Cblf
Intraventricular hemorrhage, Skin rash ORPHA:79284
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Hepatomegaly, Ascites OMIM:256810
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Patent ductus arteriosus, Cardiomyopathy, Tr... OMIM:217980
Superficial Siderosis
Abnormal bleeding, Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous m... ORPHA:247245
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension ORPHA:556037
Acute Adrenal Insufficiency
Normocytic anemia, Orthostatic hypotension, Myocardial infarction, Hypovolemia, Hypotension ORPHA:95409
Liver Disease, Severe Congenital
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Patent ductus arteriosus, Dilatation of the ventri... OMIM:619991
Somatostatinoma
Gastrointestinal hemorrhage, Hepatomegaly, Ascites, Abnormal abdomen morphology ORPHA:97283
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Fanconi Anemia, Complementation Group D2
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Bruising susceptibility, Thromboc... OMIM:227646
Hennekam-Beemer Syndrome
Mastocytosis, Arrhythmia, Telangiectasia of the skin, Hypotension ORPHA:2135
Combined Oxidative Phosphorylation Deficiency 55
Thrombocytopenia, Anemia OMIM:619743
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hypotension ORPHA:556030
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatomegaly, Hypoventilation, Anasarca, Tracheomalacia, Ascites OMIM:203700
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Apnea, Patent ductus arteri... ORPHA:17
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood OMIM:613848
Atresia Of Urethra
Ascites, Pulmonary insufficiency, Oligohydramnios ORPHA:105
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin ORPHA:423479
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension OMIM:264350
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Pulmonic stenosis, Increased mean platelet volume OMIM:616737
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension OMIM:620125
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Death in infancy, Abnormal hemoglobin, Anemia ORPHA:847
Kyphoscoliotic Ehlers-Danlos Syndrome
Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Bruising susceptibility, Antenatal in... ORPHA:536545
Fumarase Deficiency
Ascites, Polyhydramnios OMIM:606812
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Hypercapnia, Reduced forced vital capacity,... OMIM:164310
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Right ventricular failure, Palpitations, Facial telangiectasia, Hypotens... ORPHA:97287
Non-Functioning Pituitary Adenoma
Hypotension, Anemia of inadequate production ORPHA:91349
Deeah Syndrome
Decreased hemoglobin concentration, Death in infancy, Decreased heart rate variability, Death in ... OMIM:619004
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Severe B lymphocytopenia, Hypotension, Autoimmune thrombocytopenia ORPHA:293978
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Thrombocytopenia OMIM:254900
Congenital Erythropoietic Porphyria
Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poi... ORPHA:79277
Corticosterone Methyloxidase Type I Deficiency
Hypotension OMIM:203400
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Aortic aneurysm, Hypertension, Respiratory fai... ORPHA:805
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Anemia ORPHA:261323
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, Thrombocytopenia ORPHA:572798
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Anemia, Pulmonary arterial hyper... OMIM:620005
Exercise-Induced Malignant Hyperthermia
Abnormal bleeding, Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Ab... ORPHA:466650
Infant Botulism
Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Lathosterolosis
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag... OMIM:613795
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Hypertensive crisis, Myocarditis, Leukocytosis, Hypertension, Th... ORPHA:544482
Biotinidase Deficiency
Respiratory distress, Skin rash, Apnea, Eczematoid dermatitis, Hyperventilation ORPHA:79241
Mitchell-Riley Syndrome
Ascites OMIM:615710
Kikuchi-Fujimoto Disease
Splenomegaly, Myocarditis, Vasculitis, Anemia, Leukopenia, Lymphocytosis, Vasculitis in the skin,... ORPHA:50918
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Tangier Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:31150
Osteogenesis Imperfecta
Aortic regurgitation, Neonatal respiratory distress, Cerebral hemorrhage, Aortic root aneurysm, P... ORPHA:666
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hypertension ORPHA:1555
Aa Amyloidosis
Hypotension ORPHA:85445
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension OMIM:177735
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Patent ductus arteriosus OMIM:300968
Auriculocondylar Syndrome
Respiratory distress, Vein of Galen aneurysmal malformation ORPHA:137888
Pde4D Haploinsufficiency Syndrome
Hypotension ORPHA:439822
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Patent ductus arteriosus, Oligohydramnios ORPHA:177907
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension ORPHA:159
Arachnoid Cyst
Subarachnoid hemorrhage ORPHA:2356
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Pulmonary arterial hypertension, Thrombocytopenia ORPHA:2785
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... ORPHA:42775
Nelson Syndrome
Intracranial hemorrhage, Hypertension ORPHA:199244
Primary Sjögren Syndrome
Normocytic anemia, Raynaud phenomenon, Vasculitis, Leukopenia, Normochromic anemia, Arteritis, De... ORPHA:289390
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia ORPHA:457351
Gitelman Syndrome
Prolonged QT interval, Respiratory distress, Raynaud phenomenon, Pericardial effusion, Low-to-nor... ORPHA:358
Pituitary Deficiency Due To Rathke Cleft Cysts
Intracranial hemorrhage ORPHA:91350
Familial Hypoaldosteronism
Orthostatic hypotension, Hypovolemia, Hypotension ORPHA:427
Niemann-Pick Disease, Type C1
Hepatomegaly, CNS foam cells, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Foam cells OMIM:257220
Hydranencephaly
Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Antenatal intr... ORPHA:2177
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Apnea, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Episodic re... ORPHA:255210
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, T lymphocytopenia, B lymphocytopenia, T... OMIM:251260
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Cholera
Hypovolemic shock, Miscarriage, Tachycardia, Hypotension ORPHA:173
Dyskeratosis Congenita
Telangiectasia of the skin, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Anemia ORPHA:1775
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Gaucher Disease
Abnormal bleeding, Death in infancy, Pancytopenia, Splenomegaly, Anemia, Gingival bleeding, Pulmo... ORPHA:355
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Eczema, Intraventricular hemorrhage, Cardiomyopathy, Pulmonic s... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Eczema, Intraventricular hemorrhage, Cardiomyopathy, Pulmonic s... ORPHA:363958
Meningioma
Progressive pulmonary function impairment, Abnormality on pulmonary function testing, Syncope, Ce... ORPHA:2495
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Splenomegaly, Hepatosp... ORPHA:2072
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Pearson Syndrome
Reticulocytosis, Pancytopenia, Cardiac conduction abnormality, Splenomegaly, Anemia, Cardiomyopat... ORPHA:699
Osteogenesis Imperfecta, Type Xvii
Intraventricular hemorrhage OMIM:616507
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Dubowitz Syndrome
Acute lymphoblastic leukemia, Thrombocytopenia, Anemia, Abnormality of neutrophils ORPHA:235
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Eosinophilia, Leukocytosis, Prolonged bleeding following circumcision, Hepatosp... OMIM:274000
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Emphysema OMIM:224690
Addison Disease
Normocytic anemia, Thiamine-responsive megaloblastic anemia, Orthostatic hypotension, Hypotension ORPHA:85138
Alg12-Cdg
Prolonged prothrombin time, B lymphocytopenia, Thrombocytopenia ORPHA:79324
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hypertension OMIM:123790
Ramos-Arroyo Syndrome
Respiratory distress, Patent ductus arteriosus, Xerostomia ORPHA:1051
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Ecze... ORPHA:83617
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Hepatomegaly, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Coarc... OMIM:617088
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia ORPHA:647
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Subdural hemorrhage OMIM:619714
Porphyria, Congenital Erythropoietic
Splenomegaly, Hemolytic anemia, Thrombocytopenia OMIM:263700
Trichorhinophalangeal Syndrome, Type Ii
Recurrent respiratory infections, Internal carotid artery dissection, Cerebral arteriovenous malf... OMIM:150230
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections, Dilation of Virchow-Robin spaces, Hepatom... OMIM:615273
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Pulmonary artery stenosis, Patent ductus arteriosus, Transposition of the g... ORPHA:2255
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Polyhydramnios, Tracheobronchomalacia... OMIM:114290
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Johanson-Blizzard Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Dilated cardiomyopathy, Anasarca, Death in child... OMIM:243800
Chand Syndrome
Atelectasis ORPHA:1401
Rubinstein-Taybi Syndrome 1
Accessory spleen, Respiratory distress, Polyhydramnios, Respiratory tract infection, Patent ductu... OMIM:180849
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Poliomyelitis
Hypertension, Hypovolemic shock, Hypotension ORPHA:2912
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Patent duc... OMIM:616268
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Respiratory distress, Patent ductus arteriosus, Hypoplastic aortic a... ORPHA:508488
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Lysinuric Protein Intolerance
Abnormal bleeding, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia ORPHA:470
Rodrigues Blindness
Nasal flaring OMIM:268320
Tick-Borne Encephalitis
Leukopenia, Leukocytosis, Thrombocytopenia ORPHA:297
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Splenomegaly, Anemia, Prolonged prothrombin time, Bleeding with minor or no tr... OMIM:619525
Ogden Syndrome
Premature atrial contractions, Ventricular tachycardia, Premature ventricular contraction, Iron d... OMIM:300855
Diamond-Blackfan Anemia 10
Respiratory distress, Patent ductus arteriosus OMIM:613309
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Pmm2-Cdg
Respiratory distress, Pericarditis, Angina pectoris, Lymphedema, Pericardial effusion, Intracrani... ORPHA:79318
Witteveen-Kolk Syndrome
Intracranial hemorrhage, Eczema, Polyhydramnios OMIM:613406
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Splenomegaly, Congestive heart failure, Death in adolescence, Arrhythmia, Thro... OMIM:256040
Sarcoidosis
Hemolytic anemia, Abnormal cardiac ventricular function, Eosinophilia, Portal hypertension, Heart... ORPHA:797
Acute Transverse Myelitis
Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage ORPHA:139417
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:305000
Adnp Syndrome
Respiratory distress, Aspiration, Recurrent upper respiratory tract infections ORPHA:404448
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Leukopenia, Hypertrophic cardiomyop... ORPHA:84
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Hypotension ORPHA:361
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Dyspnea, Dilated cardiomyopathy, Hypertrophic card... ORPHA:2556
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Hardikar Syndrome
Portal hypertension, Hypersplenism, Splenomegaly, Hematemesis, Hepatosplenomegaly, Hypertension, ... OMIM:301068
Jacobsen Syndrome
Death in infancy, Aortic valve stenosis, Thrombocytopenia ORPHA:2308
Alexander Disease
Hypotension, Hypertension, Sudden cardiac death ORPHA:58
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hem... OMIM:175780
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Cerebral hemorrhage OMIM:616682
Insulin-Resistance Syndrome Type B
Leukopenia, Thrombocytopenia ORPHA:2298
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Inflammatory abnormalit... ORPHA:95455
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Hypotension ORPHA:428
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal bleeding, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Acute promyelocytic ... ORPHA:77293
Cornelia De Lange Syndrome 1
Thrombocytopenia OMIM:122470
Jacobsen Syndrome
Thrombocytopenia OMIM:147791
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension ORPHA:90791
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis, Eczema OMIM:305100
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypotension ORPHA:93256
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea, Oligohydramnios ORPHA:3206
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... OMIM:614748
Neuroendocrine Neoplasm Of Appendix
Palpitations, Heart murmur, Tricuspid stenosis, Hypotension ORPHA:100079
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Doors Syndrome
Respiratory distress, Polyhydramnios, Aspiration pneumonia, Thrombocytosis, Double outlet right v... ORPHA:79500
Prolactinoma
Hypotension ORPHA:2965
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Raynaud phenomenon, Chronic lymphatic leukemia, Hepatosplen... ORPHA:51
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V... ORPHA:91347
Ulbright-Hodes Syndrome
Respiratory distress, Pneumothorax, Respiratory failure, Pulmonary hypoplasia, Oligohydramnios ORPHA:3404
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Pulmonary hypoplasia ORPHA:798
Bartter Syndrome, Type 3
Hypotension OMIM:607364
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Noonan Syndrome 1
Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Pulmonic s... OMIM:163950
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypovolemia, Hypotension ORPHA:168558
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Roberts Syndrome
Thrombocytopenia ORPHA:3103
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypovolemia, Hypotension ORPHA:289548
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring ORPHA:466943
Isolated Arrhinia
Respiratory distress ORPHA:1134
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Cardiomyopathy, Recurrent upper and lower respiratory tract infections, Pat... ORPHA:480880
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia ORPHA:79078
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Miscarriage, Hypovolemia, Hypotension ORPHA:90794
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Lymphangioma, Recurrent pneumonia, Vascular tortuosity ORPHA:99646
Alström Syndrome
Respiratory distress, Hepatomegaly, Portal hypertension, Congestive heart failure, Splenomegaly, ... ORPHA:64
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Bartter Syndrome, Type 1, Antenatal
Low-to-normal blood pressure OMIM:601678
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Renovascular hypertensi... ORPHA:286
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494

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 Clec1b

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 Clec1b.

No publications found that use IMPC mice or data for Clec1b.

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MGI Allele Allele Type Produced
Clec1btm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Clec1btm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Clec1btm45238(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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