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Gene: Thap11 MGI:1930964

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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:
THAP domain containing 11
Synonyms:
Ronin,  2810036E22Rik,  CTG-B45d

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 Thap11 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 Thap11 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Elevated circulating creatine kinase concentration, Spinal rigidity, Respiratory insufficiency du... OMIM:300717
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Elevated circulating creatine kina... ORPHA:266
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Anemia, Abnormal cardiac ... ORPHA:3319
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxi... OMIM:600561
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Spinal muscular atrophy, Respiratory insufficiency, Proximal amyotroph... OMIM:253300
Muscular Dystrophy, Congenital, 1B
Facial palsy, Elevated circulating creatine kinase concentration, Spinal rigidity, Achilles tendo... OMIM:604801
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Congenital Muscular Dystrophy With Intellectual Disability
Neuropathic spinal arthropathy, Hypoglycosylation of alpha-dystroglycan, Multiple joint contractu... ORPHA:370968
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum, Thrombocytopenia OMIM:166990
Thrombocytopenia 2
Leukocytosis, Bruising susceptibility, Thrombocytopenia OMIM:188000
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Camptodactyly of finger, Elevated circulating creatine kinase... OMIM:614399
Congenital Myopathy 14
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... OMIM:618414
Cyanosis, Transient Neonatal
Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Pontocerebellar Hypoplasia, Type 15
Death in infancy, Chronic neutropenia, Partial agenesis of the corpus callosum, Hydrocephalus, An... OMIM:619302
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Elbow contracture, Elevated circulating creatine kinase concentration, V... OMIM:606612
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Pulmonary arterial hypertension, Stillbirth, Scoliosi... OMIM:619751
Perching Syndrome
Respiratory distress, Cyanosis, Scoliosis, Camptodactyly, Joint contracture OMIM:617055
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory insufficiency, Respiratory failure, Ventriculomegaly OMIM:611722
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Thrombocytopenia, Ventriculomegaly, Subcutaneous hemorrhage ORPHA:1980
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Apnea, Elevated circulating creatine kinase concentration, Respiratory insuffic... OMIM:613869
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency, Respiratory failure,... OMIM:616081
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Thoracic kyphoscoliosis, Cyanosis, Reduced vital capacity, Facial palsy,... ORPHA:98913
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Neonatal respiratory distress, Apnea, Elev... ORPHA:168486
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Intrauterine growth retardation, Thrombocytopenia OMIM:189800
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydrocephalus, Respi... OMIM:610333
Avian Influenza
Elevated hepatic transaminase, Respiratory distress, Miscarriage, Pneumonia, Elevated circulating... ORPHA:454836
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia OMIM:209970
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... ORPHA:90117
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology... ORPHA:75840
Congenital Toxoplasmosis
Elevated hepatic transaminase, Ventriculomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Hydroc... ORPHA:858
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal circulating enzyme concentration or activity, Respiratory insufficiency due to muscle we... ORPHA:2590
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Short neck, Respiratory insufficiency due to muscle weakness, Kyphosis, ... OMIM:611890
Immunodeficiency 95
Respiratory distress, Respiratory failure, Lymphopenia, Recurrent viral pneumonia OMIM:619773
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Gliosis, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Nemaline Myopathy 8
Death in infancy, Facial palsy, Flexion contracture, Respiratory failure, Myofibrillar myopathy, ... OMIM:615348
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Fatty repla... OMIM:620249
Butyrylcholinesterase Deficiency
Abnormal circulating enzyme concentration or activity, Respiratory failure, Respiratory failure r... ORPHA:132
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Dyspnea, Decreased acid sphingomyelinase ... OMIM:607616
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Miscarriage, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Congenital contracture, Gliosis, Respiratory failure OMIM:225753
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Fetal Parvovirus Syndrome
Thrombocytopenia, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Anemia ORPHA:295
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Pontocerebellar Hypoplasia, Type 14
Death in infancy, Agenesis of corpus callosum, Chronic neutropenia, Thrombocytopenia OMIM:619301
Congenital Myopathy 21 With Early Respiratory Failure
Elevated circulating creatine kinase concentration, Spinal rigidity, Dyspnea, Hypertrophic cardio... OMIM:620326
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Respiratory insufficiency, Knee flexion contr... OMIM:313420
Hyperekplexia 4
Kyphoscoliosis, Flexion contracture, Respiratory failure, Distal arthrogryposis, Camptodactyly, U... OMIM:618011
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Abnormal heart morphology, Respira... OMIM:276950
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Reduced vital capacity, Elevated circulating creatine kinase concentration, Qua... OMIM:603689
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... ORPHA:254875
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Cyanosis, Central apnea ORPHA:71277
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Death in childhood, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Respiratory i... OMIM:618291
Triosephosphate Isomerase Deficiency
Normocytic anemia, Skeletal muscle atrophy, Hemolytic anemia, Macrocytic anemia, Respiratory dist... OMIM:615512
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Short neck, Dyspnea, Respiratory failure, Intrauterine growth retardation ORPHA:1832
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Cyanosis, Crackles, Nonproductive cou... ORPHA:1302
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Elevated circulating creatine kinase concentration, Spinal rigidi... ORPHA:352447
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Elevated circulating creatine kinase concentration, Elevated circulating aspart... OMIM:619386
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, Bruising susceptibility, H... ORPHA:231401
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Macrothrombocytopenia, Anemia, Spontaneous hematomas, Thrombocytopenia OMIM:616176
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Neonatal respiratory distress, Death in infancy, Elevated circulating as... OMIM:245400
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy, Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Crackles, Dyspnea, Myocardial fibrosis, Hepat... ORPHA:210136
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis, Respiratory insufficiency ORPHA:2901
Muscular Dystrophy, Duchenne Type
Hypoventilation, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentratio... OMIM:310200
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Ventricular septal defect, Apnea, Respiratory failure, Hypertrophic cardiomyopathy OMIM:616277
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Asbestos Intoxication
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... ORPHA:2302
Pneumocystosis
Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Nonproductive coug... ORPHA:723
Atypical Hemolytic Uremic Syndrome
Abnormal lactate dehydrogenase level, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating creatine kinase concentration, Kyphoscoliosis, Elevated circulating aspartat... OMIM:614727
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Limb muscle weaknes... OMIM:207950
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Cardiomyopathy, Resp... ORPHA:171433
Breath-Holding Spells
Iron deficiency anemia, Cyanosis OMIM:607578
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Dysp... ORPHA:98826
Transaldolase Deficiency
Thrombocytopenia, Abnormal respiratory system physiology, Hepatosplenomegaly, Biventricular hyper... ORPHA:101028
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Methemoglobinemia, Polycythemia, Exertional dyspnea OMIM:250800
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, Respiratory in... ORPHA:848
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Splenomegaly, Chronic pulmonary obstruction, Chylopericardium, Pu... ORPHA:2414
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Cor pulmonale, Respiratory failure, Cough OMIM:263000
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Acute Interstitial Pneumonia
Cyanosis, Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis... ORPHA:79126
Babesiosis
Hemolytic anemia, Splenomegaly, Jaundice, Respiratory insufficiency, Leukopenia, Cough, Hepatic f... ORPHA:108
Acute Myelomonocytic Leukemia
Eosinophilia, Dyspnea, Leukocytosis, Anemia, Thrombocytopenia ORPHA:517
Noonan Syndrome 12
Ventriculomegaly, Ventricular septal defect, Tetralogy of Fallot, Spinal canal stenosis, Lymphope... OMIM:618624
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pneumo... OMIM:620296
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Hereditary Methemoglobinemia
Cyanosis, Methemoglobinemia, Exertional dyspnea ORPHA:621
Snakebite Envenomation
Epistaxis, Angioedema, Rhabdomyolysis, Erythema, Respiratory failure, Muscle fiber necrosis, Resp... ORPHA:449285
Malaria
Anemia, Respiratory distress, Thrombocytopenia ORPHA:673
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... OMIM:314050
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Bleeding Disorder, Platelet-Type, 16
Petechiae, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impai... OMIM:187800
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Jaundice, Respiratory failure ORPHA:890
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Death in adolescence, Cardiomyocyte hypertrophy, Left ... OMIM:612158
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k... OMIM:613954
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... OMIM:617021
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough ORPHA:330012
Alg1-Cdg
Kyphosis, Abnormal heart morphology, Cardiomyopathy, Respiratory failure, Decreased liver functio... ORPHA:79327
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... OMIM:156530
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Ragged-red muscle fibers OMIM:616794
Dk Phocomelia Syndrome
Encephalocele, Thrombocytopenia OMIM:223340
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Decreased liver function, Thrombocytopenia ORPHA:67048
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Gray Platelet Syndrome
Epistaxis, Abnormality of thrombocytes, Splenomegaly, Bruising susceptibility, Thrombocytopenia ORPHA:721
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia,... ORPHA:398124
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Jaundice, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Scapular winging, Elevated circulating cr... ORPHA:26791
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Acute respiratory distress syndrome, Ventriculomegaly, Petechiae, ... OMIM:617397
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Tachypnea, Dysp... ORPHA:36238
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Thrombocytosis, Microcytic anemia, Abnormality of the spleen, ... ORPHA:232
Peripartum Cardiomyopathy
Orthopnea, Left atrial enlargement, Crackles, Myocarditis, Dyspnea, Dilated cardiomyopathy, Asthm... ORPHA:563
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Epistaxis, Impaired ADP-induced platelet aggregation, Neutrophil incl... OMIM:155100
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Weakness of facial musculature, Respiratory failure OMIM:618637
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Abnormal atrial arrangement, Atrial situs ambiguous, Productive co... ORPHA:244
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Neonatal respiratory distress, Respiratory failure, Aspiration p... OMIM:619057
Erythrocytosis, Familial, 1
Plethora, Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit... OMIM:133100
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Abnormal heart morphology, Respiratory fai... ORPHA:70472
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Atelis Syndrome 1
Ventricular septal defect, Bronchiectasis, Lumbar kyphosis, Anemia, Leukopenia, Atrial septal def... OMIM:620184
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Cutaneous photosensitivity, Anemia OMIM:615715
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Respiratory insufficiency, Anemia, Leukopenia, Respiratory failure, Pulmonary arter... OMIM:613845
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Cyanosis, Apnea, Dextrocardia, Abnormal hemidiaphragm morphology, ... ORPHA:2257
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Flexion contract... OMIM:616867
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Dyspnea, Abnormal lactate dehydrogenase level, Microangiopathic hemolytic anemia... ORPHA:54057
Acquired Methemoglobinemia
Respiratory distress, Cyanosis, Dyspnea, Hypoxemia, Methemoglobinemia ORPHA:464453
Slc35A1-Cdg
Respiratory distress, Subcutaneous hemorrhage, Pneumonia, Giant platelets, Hypoxemia, Neutropenia... ORPHA:238459
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure, Intrauterine growth retardation, Arthrogryposis m... OMIM:615330
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Ankle flexion contracture, Short neck, Knee flexion contracture, Lateral ... ORPHA:284417
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Death in infancy, Pancytopenia, Ventriculomegaly, Ventricular sept... OMIM:614576
Aicardi-Goutieres Syndrome 6
Splenomegaly, Intrauterine growth retardation, Hemolytic anemia, Thrombocytopenia OMIM:615010
Tricuspid Atresia
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great ar... ORPHA:1209
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Abnormal circulating enzyme concentration or activity, Respiratory failure ... ORPHA:308552
Phosphoglycerate Dehydrogenase Deficiency
Reduced 3-phosphoglycerate dehydrogenase activity, Thrombocytopenia, Megaloblastic anemia OMIM:601815
Thrombocytopenia 5
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... OMIM:616216
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Increased variability ... OMIM:619334
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Decr... OMIM:220110
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Short neck, Thrombocytopenia, Perimembranous ventricular septal defect, Decreas... OMIM:608104
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Hypertr... ORPHA:444013
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Leukocytosis, Increased DLCO, Hypoxe... ORPHA:90060
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Thrombocytopenia, Respiratory insufficiency, Cardiomyopathy, Leukopenia, Anemia ORPHA:27
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Respiratory failure, Myelo... ORPHA:3226
Boutonneuse Fever
Elevated hepatic transaminase, Petechiae, Leukopenia, Respiratory failure, Thrombocytopenia ORPHA:83313
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Tachypnea, Respiratory failure, Abnormal circulating creatine kinase concentration, Death in chil... OMIM:615838
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Ventriculomegaly, Facial palsy, Thrombocytopenia, Leu... OMIM:259720
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Petechiae, Facial palsy, Splenomegaly, Anemia, Sclerotic vertebral endplates, Th... OMIM:611490
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Transaldolase Deficiency
Pancytopenia, Ventricular septal defect, Short neck, Thrombocytopenia, Splenomegaly, Asthma, Tela... OMIM:606003
Non-Involuting Congenital Hemangioma
Prominent superficial veins, Telangiectasia of the skin, Thrombocytopenia, Subcutaneous calcifica... ORPHA:141179
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Diaphragmatic eventration, Spinal muscular atrophy, Camptodactyly of finger, Denervation of the d... OMIM:604320
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Epistaxis, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Bruising susceptibility, Epistaxis, Thrombocytopenia OMIM:613554
Congenital Rubella Syndrome
Ventricular septal defect, Thrombocytopenia, Jaundice, Splenomegaly, Atrial septal defect, Intrau... ORPHA:290
Primary Familial Polycythemia
Epistaxis, Abnormal hemoglobin, Dyspnea, Cough, Polycythemia, Exertional dyspnea ORPHA:90042
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Colpocephaly, Decreased liver function OMIM:614870
Idiopathic Pulmonary Hemosiderosis
Crackles, Cardiomegaly, Dyspnea, Hepatosplenomegaly, Iron deficiency anemia, Restrictive ventilat... ORPHA:99931
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Agenesis of corpus callosum, Ventriculomegaly, Apneic episodes precipitated ... OMIM:312170
Platelet Signal Processing Defect
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... OMIM:173590
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Strid... OMIM:606071
Wilson Disease
Acute hepatic failure, Elevated hepatic transaminase, Back pain, Thrombocytopenia, Jaundice, Sple... ORPHA:905
Sengers Syndrome
Respiratory insufficiency, Myopathy, Pulmonary arterial hypertension, Hypertrophic cardiomyopathy... OMIM:212350
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Respiratory insufficiency OMIM:615917
Primary Myelofibrosis
Pancytopenia, Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoi... ORPHA:824
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Thrombocytopenia, Hyposegmentation of neut... OMIM:169400
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Elevated circulating creatine kinase concentration, Asplenia, Thr... OMIM:185070
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Death in infancy, Neonatal respiratory distress, Apnea, Elevated c... OMIM:608836
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Thrombocytopenia ORPHA:79312
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomegaly, Leukocyto... OMIM:618278
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Neonatal respiratory distress, Multiple joint contractures, Hypoventilat... ORPHA:70
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly OMIM:610539
Congenital Enterovirus Infection
Respiratory distress, Ventriculomegaly, Abnormal macrophage morphology, Pericardial effusion, Myo... ORPHA:292
Drug-Induced Lupus Erythematosus
Pericarditis, Petechiae, Elevated circulating creatine kinase concentration, Pericardial effusion... ORPHA:231111
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... OMIM:614299
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Abnormal lactate dehydrogenase level, Macrothrombo... ORPHA:67044
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... ORPHA:98850
Rapidly Involuting Congenital Hemangioma
Prominent superficial veins, Telangiectasia of the skin, Thrombocytopenia, Subcutaneous calcifica... ORPHA:141184
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega... OMIM:249270
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Thrombocytopenia, Jaundice, Leukocytosis, Splenomegaly,... ORPHA:90051
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Bernard-Soulier Syndrome
Epistaxis, Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopen... OMIM:231200
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Cardiomegaly, Pericardial effusion,... ORPHA:555874
Wt Limb-Blood Syndrome
Pancytopenia, Joint contracture of the 5th finger, Leukemia, Hypoplastic anemia, Thrombocytopenia OMIM:194350
Immunodeficiency 54
Splenomegaly, Respiratory insufficiency, Respiratory failure, Intrauterine growth retardation, Re... OMIM:609981
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Bone-marrow foam cells, Low cholesterol esterifi... OMIM:607625
Cholesteryl Ester Storage Disease
Acute hepatic failure, Death in infancy, Elevated circulating aspartate aminotransferase concentr... OMIM:278000
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Respira... OMIM:260400
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Epistaxis, Portal hypertension, Splenomegaly, Thrombocytopenia, El... OMIM:619463
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Abnormal pulmonary valve morphology, Camptodactyly of finger, Flexion contractu... ORPHA:1194
Sandestig-Stefanova Syndrome
Short neck, Muscular ventricular septal defect, Respiratory failure, Perimembranous ventricular s... OMIM:618804
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Pancytopenia, Facial palsy, Thrombocytopenia, Splenomega... OMIM:259700
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Elevated hepatic transaminase, Death in infancy, Neutrophilia, Recurrent p... OMIM:619644
Fetal Gaucher Disease
Death in infancy, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Sti... ORPHA:85212
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Cardiomyopathy, Respiratory failure, Myopathy, Stillbirth, Decreased liver func... OMIM:614922
Propionic Acidemia
Pancytopenia, Apnea, Thrombocytopenia, Tachypnea, Cardiomyopathy, Neutropenia, Propionyl-CoA carb... OMIM:606054
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomega... ORPHA:158057
Relapsing Fever
Elevated hepatic transaminase, Neutrophilia, Epistaxis, Thrombocytopenia, Jaundice, Leukocytosis,... ORPHA:91547
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Flexion cont... ORPHA:258
Giant platelet syndrome with thrombocytopenia
Giant platelets, Bruising susceptibility, Thrombocytopenia OMIM:137560
Specific Granule Deficiency 2
Absent neutrophil specific granules, Death in infancy, Recurrent pneumonia, Anemia, Death in chil... OMIM:617475
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Hepatosplenomegaly, Anemia, Elevated circulat... ORPHA:210110
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect, Respiratory insufficiency due to muscle weakness, Myopathy, Lateral ve... OMIM:616816
Congenital Heart Block
Cyanosis, Crackles, Pericardial effusion, Endocardial fibroelastosis, Intrauterine growth retarda... ORPHA:60041
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Congenital Myasthenic Syndrome
Neuropathic spinal arthropathy, Cyanosis, Sudden episodic apnea, Kyphoscoliosis, Spinal rigidity,... ORPHA:590
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kina... OMIM:620166
Presynaptic Congenital Myasthenic Syndromes
Neuropathic spinal arthropathy, Cyanosis, Sudden episodic apnea, Kyphoscoliosis, Spinal rigidity,... ORPHA:98914
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Death in infancy, Dilated cardiomyopathy, Death in childhood, Hype... OMIM:611126
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Facial palsy, Thrombocytopenia, Anemia OMIM:616435
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Increased circul... OMIM:613839
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Flexion contracture, Respiratory insufficiency, Facial diplegia, Respirat... OMIM:618186
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Cutis marmorata, Abnormal platelet aggregation ORPHA:401945
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory... OMIM:265120
Griscelli Syndrome
Encephalocele, Abnormality of neutrophils, Splenomegaly, Jaundice, Hydrocephalus, Hepatitis, Prem... ORPHA:381
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:609015
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia ORPHA:163596
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Cyanosis, Sudden episodic apnea, Rhabdomyolysis, Respiratory insuf... ORPHA:159
Prolidase Deficiency
Chronic lung disease, Petechiae, Elevated circulating aspartate aminotransferase concentration, T... OMIM:170100
Gaucher Disease, Type I
Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Vertebral compression fracture, An... OMIM:230800
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif... OMIM:610921
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Cyanosis, Ventricular septal defect, Abnormal pulmonary ... ORPHA:860
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Ventricular septal defect, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventricular noncompac... OMIM:252011
Fanconi Anemia, Complementation Group B
Death in infancy, Ventriculomegaly, Aplastic anemia, Ventricular septal defect, Short neck, Hydro... OMIM:300514
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Intrauterine growth retardation, Thrombocytopenia, Death in childhood OMIM:615597
Alg8-Cdg
Elevated hepatic transaminase, Ventriculomegaly, Abnormality of subcutaneous fat tissue, Thromboc... ORPHA:79325
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Respiratory failure, Gliosis, Thrombocytopenia ORPHA:3240
Ciliary Dyskinesia, Primary, 5
Neonatal respiratory distress, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Respi... OMIM:608647
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Decreased methionine synthase activity, Tachypnea, Normochromic anemia, Neutropenia, Atrial septa... OMIM:614857
Leishmaniasis
Elevated hepatic transaminase, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia... ORPHA:507
2,4-Dienoyl-Coa Reductase Deficiency
Death in infancy, Hydrocephalus, Colpocephaly, Reduced liver 2,4-dienoyl-CoA reductase activity, ... OMIM:616034
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Ventricular septal defect,... OMIM:208085
Pseudo-Torch Syndrome 3
Death in infancy, Apnea, Cardiomegaly, Leukocytosis, Respiratory insufficiency, Congenital thromb... OMIM:618886
Leigh Syndrome
Skeletal muscle atrophy, Abnormal circulating enzyme concentration or activity, Multiple joint co... ORPHA:506
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Thyrocerebrorenal Syndrome
Thrombocytopenia, Abnormality of the musculature of the limbs ORPHA:3327
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Torticollis, Myelopathy, Cervical myelopathy, Respiratory failure, Bradypnea, Death in childhood,... OMIM:617186
Preeclampsia
Elevated hepatic transaminase, Intrauterine growth retardation, Thrombocytopenia ORPHA:275555
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Ventriculomegaly, Thrombocytopenia, Jaundice, Splenomegaly, Decrea... OMIM:251290
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Iron deficiency anemia, Pleural empyema,... ORPHA:2038
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Cerebellar gliosis, Flexion contracture, Respiratory failure, Distal amyotrophy, Scoliosis OMIM:616505
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Kyphosis, Hydrocephalus, Platyspondyly... OMIM:616482
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, Hydrocephalus, Hepatosp... OMIM:259710
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Ventriculomegaly, Ventricular septal defect, Elevated circulating ... OMIM:301056
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Recurrent sinusitis, Anemia OMIM:613101
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Ventricular septal defect, Cerebellar gliosis, Flexion contracture... ORPHA:79243
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Respiratory insuffi... OMIM:135100
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Elevated circulating creatine kinase concentration, Pericardial effusi... OMIM:618775
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial effusion, Thr... OMIM:613011
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... OMIM:610913
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... OMIM:617228
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly, Abnormal heart morphology ORPHA:2185
Pontocerebellar Hypoplasia, Type 1A
Spinal muscular atrophy, Respiratory insufficiency, Congenital contracture, Distal amyotrophy, La... OMIM:607596
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita, Congenital lary... ORPHA:2254
Leigh Syndrome
Respiratory failure, Gliosis, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Myh9-Related Disease
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Increased mean platelet volume, ... ORPHA:182050
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Elevated circu... ORPHA:263501
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Hyperlordosis, Camptodactyly, Agenesis of corpu... OMIM:619980
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Leukopenia, Cutaneous photosensitivity, Thrombocytopenia OMIM:152700
Gaucher Disease, Perinatal Lethal
Respiratory distress, Ventriculomegaly, Apnea, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepa... OMIM:608013
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Erythrocytosis, Familial, 2
Plethora, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Pulmonary ar... OMIM:263400
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Chronic pulmonary obstruction, Recurrent pneumonia, Bronchiectasis, ... OMIM:616576
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Abnormality of neutrophils, Thrombocytopenia, Abnormal lymphocyte morpholog... ORPHA:229717
Congenital Fibrinogen Deficiency
Cyanosis, Splenic rupture, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneous he... ORPHA:335
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Hemivertebrae, Abnormal form of the vertebral bodies, Respiratory ... ORPHA:2759
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Mitral val... OMIM:612561
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Asplenia, Aqueductal stenosis, Dextrotransposition of the gre... OMIM:306955
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Hypoxemia, Facial erythema, Increased hematocrit, ... ORPHA:284227
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Elevated circulating creatine kinase concentration, Cardiomegaly, Flexion c... ORPHA:365
Gaucher Disease, Type Iii
Splenomegaly, Thrombocytopenia, Pancytopenia, Decreased beta-glucocerebrosidase level OMIM:231000
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... OMIM:300367
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Gaucher Disease Type 1
Pancytopenia, Pericardial effusion, Hypersplenism, Thrombocytopenia, Splenomegaly, Kyphosis, Leuk... ORPHA:77259
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Kyphoscoliosis, Short neck, Thrombocytopenia, Giant platelets, Vertebral segm... OMIM:611209
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Immunodeficiency 32B
Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Anemia, Impaired ... OMIM:226990
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Thoracic scoliosis, Death in infancy, Abnormality ... OMIM:620278
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Ventriculomegaly, Cardiomyopathy, Generalized amyotrophy, Intrauterine g... OMIM:617710
Kaposiform Lymphangiomatosis
Abnormal thoracic spine morphology, Epistaxis, Pericardial effusion, Thrombocytopenia, Splenomega... ORPHA:464329
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Combined Oxidative Phosphorylation Deficiency 14
Death in infancy, Ventriculomegaly, Anemia, Gliosis, Death in childhood, Basal ganglia gliosis, T... OMIM:614946
Combined Oxidative Phosphorylation Deficiency 42
Death in infancy, Elevated circulating creatine kinase concentration, Cardiomyopathy, Decreased l... OMIM:618839
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Cardiomyopathy... ORPHA:88618
Combined Oxidative Phosphorylation Deficiency 40
Death in infancy, Elevated circulating creatine kinase concentration, Decreased liver function, N... OMIM:618835
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Elevated creatine kinase after exercise, Di... ORPHA:99901
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Thrombocytopenia, Splenomegaly, Erythema, Cardiomyopathy, Prolonge... OMIM:225750
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Myopathy, Respiratory failure ORPHA:363400
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Pneumothorax, Cardiomyopathy, Respiratory failure, Infection assoc... ORPHA:445038
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Tularemia
Respiratory distress, Pneumonia, Leukocytosis, Anemia, Cough, Pleural effusion, Thrombocytopenia ORPHA:3392
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Petechiae, Epistaxis, Macrothrombocytopenia, Absence of alpha g... OMIM:187900
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Elevated circulating creatine kinase concentration, Dyspnea, Rhabdomyolysis, Di... OMIM:610505
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency OMIM:610773
Acute Promyelocytic Leukemia
Pancytopenia, Epistaxis, Productive cough, Thrombocytopenia, Leukocytosis, Anemia, Leukopenia, Ex... ORPHA:520
Rhabdoid Tumor
Thrombocytopenia, Respiratory insufficiency, Anemia ORPHA:69077
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Urticaria, Anemia, Reduced natural killer cell count, Thrombocytopenia OMIM:616050
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615373
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Gliosis, Lateral ventricle dilatation, Death in childhood OMIM:619847
Hsd10 Disease, Infantile Type
Abnormal circulating enzyme concentration or activity, Hypertrophic cardiomyopathy, Cyanosis, Car... ORPHA:391428
Joubert Syndrome 15
Exencephaly OMIM:614464
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Apnea, Erythema, Flexion contracture, Subependymal cysts, Lateral ... OMIM:610015
Congenital Fiber-Type Disproportion Myopathy
Flexion contracture, Knee flexion contracture, Aspiration pneumonia, Foot dorsiflexor weakness, H... ORPHA:2020
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Tufted Angioma
Anemia, Thrombocytopenia, Petechiae, Purpura ORPHA:1063
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... ORPHA:3202
Moyamoya Disease 6 With Or Without Achalasia
Cutis marmorata, Livedo reticularis, Thrombocytopenia OMIM:615750
Macrophage Activation Syndrome
Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, Splenomegaly, El... ORPHA:158061
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Facial palsy, Anemia OMIM:615085
Schimke Immunoosseous Dysplasia
Pancytopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Thrombocytopenia, Dyspnea... OMIM:242900
Immune Thrombocytopenia
Petechiae, Epistaxis, Bruising susceptibility, Thrombocytopenia, Purpura ORPHA:3002
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2nd finger, V... OMIM:612394
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... OMIM:153670
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Intrauterine growth retardation, Abnormal lateral ventricle morphology ORPHA:488635
16Q24.3 Microdeletion Syndrome
Ventriculomegaly, Ventricular septal defect, Kyphosis, Dilated cardiomyopathy, Colpocephaly, Incr... ORPHA:261250
Overlap Myositis
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Elevated circulating crea... ORPHA:206572
Acquired Purpura Fulminans
Hepatic failure, Acrocyanosis, Thrombocytopenia, Macular purpura ORPHA:49566
Catastrophic Antiphospholipid Syndrome
Abnormal heart valve morphology, Cutis marmorata, Miscarriage, Pulmonary embolism, Myocarditis, C... ORPHA:464343
Hemiparkinsonism-Hemiatrophy Syndrome
Neonatal asphyxia, Lateral ventricle dilatation, Scoliosis ORPHA:306669
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Ventricular septal defect, Dilated cardiomyopathy, Respiratory failure, ... OMIM:607598
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Stt3B-Cdg
Respiratory distress, Intrauterine growth retardation, Thrombocytopenia ORPHA:370924
Aicardi-Goutieres Syndrome 5
Flexion contracture, Thrombocytopenia OMIM:612952
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphocytosis, Hemophagocytosis... OMIM:308240
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Elevated circulating creatine kinase concentration, Hydrocephalus, Respiratory failure, Muscular ... OMIM:616538
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Epistaxis, Bruising susceptibility, Impaired pl... OMIM:601399
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Recu... ORPHA:79124
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Increas... OMIM:603909
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Abnormal circulating enzyme concentration or activity, Ventriculomegaly... ORPHA:572798
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ventriculomegaly, Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Anemia, Coombs-positive h... OMIM:304790
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Criss-Cross Heart
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition... ORPHA:1461
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co... OMIM:610910
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Methemoglobinemia OMIM:250790
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO, In... ORPHA:747
Adams-Oliver Syndrome
Encephalocele, Cutis marmorata, Abnormal pulmonary valve morphology, Portal hypertension, Hydroce... ORPHA:974
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Scedosporiosis
Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Abnormal respiratory system physiolog... ORPHA:449280
Letterer-Siwe Disease
Dyspnea, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia OMIM:246400
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Respiratory insufficiency, Thrombocytopenia ORPHA:1237
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Splenomegaly, Anemia, Decreased liver ... ORPHA:540
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy, Thrombocytopenia OMIM:274240
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Ventriculomegaly, Thrombocytopenia, Premature graying of hair, Exc... ORPHA:3322
Pontocerebellar Hypoplasia, Type 12
Death in infancy, Joint contracture, Lateral ventricle dilatation OMIM:618266
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, ... OMIM:603585
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Poems Syndrome
Pericardial effusion, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory d... ORPHA:2905
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Respiratory failure,... ORPHA:171430
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Neutropenia, Decreased proportion... ORPHA:101096
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Anemia OMIM:618116
Tetrasomy 5P
Respiratory distress, Cyanosis, Short neck, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wa... ORPHA:3309
Idiopathic Aplastic Anemia
Pancytopenia, Epistaxis, Thrombocytopenia, Reticulocytopenia, Neutropenia, Ecchymosis, Anemia ORPHA:88
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Short neck, Thrombocytopenia, Splenomegaly, Flexion contracture, Recurrent ... OMIM:617303
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Respiratory failure, Abnormality of masticatory muscle ORPHA:98755
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect... ORPHA:1329
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Respiratory insufficiency, Cardiomyopathy, Skeletal myopathy, Respiratory failure... ORPHA:746
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Eosinophilic Fasciitis
Myositis, Abnormal eosinophil morphology, Eosinophilia, Muscular edema, Acrocyanosis ORPHA:3165
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neutropenia, Neonatal death, Re... OMIM:617248
Mirage Syndrome
Petechiae, Thrombocytopenia, Hydrocephalus, Leukopenia, Scoliosis, Aspiration pneumonia, Intraute... OMIM:617053
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Ventricular septal defect, Bicuspid aortic valve, Recurrent pneumonia, ... OMIM:617751
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Lumbar hyperlordosis, Short neck, Thrombocytopenia, Hydrocephalus, Flexion ... ORPHA:505248
Isolated Right Ventricular Hypoplasia
Cyanosis, Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Hypoxemia, Atrial septal def... ORPHA:439
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Hypoplasia of ... ORPHA:231226
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Premature graying of hair, Anemia, Emphysema, Lymphopenia, Thrombocytopenia OMIM:620365
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Short neck, Microcytic anemia, Flexion contracture, Bruising susceptibility, HbH hemoglobin ORPHA:98791
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Cutis marmorata, Abnormal pericardium morphology, Eosinophilia, Myocarditis,... ORPHA:183
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemi... OMIM:274150
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Tachypnea, Left ventricular noncompaction OMIM:616501
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Death in infancy, Lateral ventricle dilatation, Respiratory insufficiency OMIM:617668
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Increased circu... OMIM:210250
Noonan Syndrome 4
Ventricular septal defect, Short neck, Pulmonic stenosis, Scoliosis, Atrial septal defect, Hypert... OMIM:610733
Hellp Syndrome
Elevated hepatic transaminase, Hemolytic anemia, Back pain, Decreased mean corpuscular hemoglobin... ORPHA:244242
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Elevated circulating creatine kinas... OMIM:610377
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Death in infancy, Cyanosis, Apnea, Splenomegaly, Ragged-red muscle fiber... OMIM:252010
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Dyspnea, Hepatitis, Acrocyanosis ORPHA:589
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Thrombocytopenia, Jaundice, Sp... ORPHA:64743
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level ORPHA:70578
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Abnormal dense granu... OMIM:214500
Meckel Syndrome 14
Occipital encephalocele, Cyanosis, Short neck, Pneumothorax, Cardiorespiratory arrest, Holoprosen... OMIM:619879
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Thrombocytopenia, Anemia OMIM:619151
Spondyloenchondrodysplasia
Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Abnormal lateral ventricle ... ORPHA:1855
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Persistence of primary teeth, Recurrent pneumonia, Persistence of hemo... OMIM:619769
Dengue Fever
Petechiae, Epistaxis, Cardiorespiratory arrest, Leukopenia, Bruising susceptibility, Thrombocytop... ORPHA:99828
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ... OMIM:616749
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Short neck, Fused cervical vertebrae, Agenesis of corpus callosum, Col... OMIM:609053
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Splenomegaly, Jaundice, Neonatal asphyxia, Neutropenia in presence... ORPHA:525731
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Bronchi... OMIM:150550
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, Elevated gamma-glu... OMIM:618329
Smith-Kingsmore Syndrome
Umbilical hernia, Ventriculomegaly, Diastasis recti, Thrombocytopenia OMIM:616638
Combined Oxidative Phosphorylation Deficiency 4
Intrauterine growth retardation, Respiratory failure, Death in infancy OMIM:610678
Lethal Acantholytic Erosive Disorder
Natal tooth, Cardiomegaly, Cardiomyopathy, Respiratory failure, Camptodactyly of toe, Intrauterin... ORPHA:158687
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Thrombocytosis, Congenital hypo... OMIM:105650
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Scoliosis, Thrombocytopenia OMIM:616577
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Skeletal muscle atrophy, Ventriculomegaly, Limb joint contracture, Spl... OMIM:301072
Immunodeficiency 10
Myopathy, Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Q Fever
Elevated hepatic transaminase, Respiratory distress, Pericarditis, Abnormal heart valve morpholog... ORPHA:781
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Zika Virus Disease
Intrauterine growth retardation, Thrombocytopenia, Miscarriage, Subcutaneous hemorrhage ORPHA:448237
Maternal Uniparental Disomy Of Chromosome 6
Intrauterine growth retardation, Ventriculomegaly, Miscarriage, Thrombocytopenia ORPHA:96181
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cardiomyopathy, Leukopenia, Neutropenia, Thrombocytopenia OMIM:251000
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
Farber Disease
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal circulating enzyme concentration... ORPHA:333
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Atrial Standstill
Skeletal muscle atrophy, Dyspnea, Flexion contracture, Abnormal heart morphology, Cardiomyopathy,... ORPHA:1344
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea, Elevated circulating alanine aminotransferase concentration, Hepatic failure OMIM:261680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circula... OMIM:613154
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Hypoplasia of ... ORPHA:231214
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Cardiomegaly, Pericardial effusion, Hydrocephalus, Increas... OMIM:261740
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Thrombocytopenia, Pulmonary arterial hy... ORPHA:1830
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Pediatric Systemic Lupus Erythematosus
Myositis, Pericardial effusion, Dyspnea, Leukopenia, Microangiopathic hemolytic anemia, Increased... ORPHA:93552
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Thrombocytopenia, Flexion contracture, Reticulocytopenia... OMIM:227645
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Prominent superficial veins, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial sept... OMIM:612541
Felty Syndrome
Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Anemia, Rhinitis, Neutropenia, Abnorm... ORPHA:47612
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Hemolytic anemia, Autoimmune hemolytic anemia, Rhabdomyosarcoma, Short n... ORPHA:647
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Elevated hepatic transaminase, Accessory spleen, Chronic lung disease, Severe B lymphocytopenia, ... OMIM:620005
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Hepatitis, Anemia, Neutropenia, Thrombocytopenia ORPHA:47
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Lower limb amyotrophy, Limb hypertonia ORPHA:401815
Castleman Disease
Dyspnea, Jaundice, Anemia, Decreased mean corpuscular volume, Cough, Restrictive cardiomyopathy, ... ORPHA:160
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... OMIM:139090
Double Outlet Right Ventricle
Cyanosis, Ventricular septal defect, Tachypnea, Double outlet right ventricle, Hypoplastic left h... ORPHA:3426
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion ORPHA:542323
Hemorrhagic Fever-Renal Syndrome
Elevated hepatic transaminase, Back pain, Respiratory distress, Petechiae, Pneumonia, Epistaxis, ... ORPHA:340
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Pulmonary embolism, Cough, Neutrophilia, Angioedem... ORPHA:3260
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Cyanosis, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricl... ORPHA:3304
Immunodeficiency 40
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:616433
Recon Progeroid Syndrome
Skeletal muscle atrophy, Progeroid facial appearance, Thrombocytopenia, Livedo reticularis, Delay... OMIM:620370
Restrictive Dermopathy 2
Respiratory distress, Intrauterine growth retardation, Cyanosis OMIM:619793
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Apnea, Flexion contracture, Elbow flexion contracture, Respiratory failure, Arth... OMIM:617301
Shwachman-Diamond Syndrome
Elevated hepatic transaminase, Normocytic anemia, Macrocytic anemia, Transient neutropenia, Aplas... ORPHA:811
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Respiratory distress, Increased circulating lactate dehydrogenase ... ORPHA:319213
Wolfram Syndrome 1
Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia OMIM:222300
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Gliosis, Lower limb amyotrophy, Abnormal morphology of musculature of pharynx ORPHA:280210
Brain-Lung-Thyroid Syndrome
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Asthma, Recurrent... ORPHA:209905
Stevens-Johnson Syndrome
Acute hepatic failure, Elevated hepatic transaminase, Abnormality of neutrophils, Thrombocytopeni... ORPHA:36426
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Petechiae, Sea-blue histiocytosis ORPHA:158029
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Decreased methionine synthase activity, Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombo... OMIM:277380
Combined Oxidative Phosphorylation Deficiency 55
Skeletal muscle atrophy, Ventriculomegaly, Elevated circulating creatine kinase concentration, Ty... OMIM:619743
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Ventricular septal defect OMIM:617895
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Pericardial effusio... ORPHA:167
Arterial Tortuosity Syndrome
Respiratory distress, Prematurely aged appearance, Telangiectasia of the skin, Myocarditis, Dyspn... ORPHA:3342
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Scoliosis, Spina bifida occulta, Agenesis of corpus callosum, Dandy... OMIM:618736
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pericardial effusion, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressur... ORPHA:199241
Dworschak-Punetha Neurodevelopmental Syndrome
Elevated circulating creatine kinase concentration, Short neck, Dysplastic corpus callosum, Colpo... OMIM:619955
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Ventricular septal defect, Partial agenesis of the corpus callosum, P... OMIM:617478
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Aspiration pneumonia, Lef... OMIM:619167
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Aspiration, Colpocephaly, Perimembranous ve... OMIM:618651
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Elevated circulating... ORPHA:496641
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Cervical platyspondyly, Colpocephaly, Scoliosis OMIM:618731
Isovaleric Acidemia
Leukopenia, Pancytopenia, Thrombocytopenia OMIM:243500
Quebec Platelet Disorder
Bruising susceptibility, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggre... OMIM:601709
Lig4 Syndrome
Pancytopenia, Asthma, Telangiectasia, Acute lymphoblastic leukemia, Cutaneous photosensitivity, C... OMIM:606593
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Cyanosis, Ventriculomegaly ORPHA:488627
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Abetalipoproteinemia
Elevated hepatic transaminase, Reticulocytosis, Kyphoscoliosis, Cardiomegaly, Acanthocytosis, Myo... ORPHA:14
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic lung disease, Chronic neutropenia, Pneumonia, ... OMIM:614700
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... OMIM:618849
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Myositis, Sinusitis, Thrombocytopenia, Splenomegaly, Flexion contr... OMIM:617591
Amyotrophic Lateral Sclerosis
Dyspnea, Skeletal muscle atrophy, Respiratory failure, Abnormal respiratory system physiology ORPHA:803
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Listeriosis
Back pain, Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Myocarditis, Jaundice, Rha... ORPHA:533
Pulmonary Alveolar Microlithiasis
Mitral valve calcification, Cyanosis, Increased pulmonary vascular resistance, Nonproductive coug... ORPHA:60025
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Respiratory distress, Cough, Thrombocytopen... ORPHA:537
Nephronophthisis 2
Situs inversus totalis, Respiratory failure, Respiratory insufficiency OMIM:602088
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activ... OMIM:251110
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb joint contracture, Respiratory failure, Atrial septal defect, Intrauterine growth retardatio... OMIM:620327
Diamond-Blackfan Anemia
Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Short neck, Erythroid h... ORPHA:124
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Lateral ventricle dilatation, Ventricular septal defect OMIM:618330
D-2-Hydroxyglutaric Aciduria 1
Apnea, Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation, Inspiratory stridor OMIM:600721
Lathosterolosis
Abnormal thoracic spine morphology, Intrahepatic cholestasis, Meningocele, Anisopoikilocytosis, A... ORPHA:46059
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Ventriculomegaly, Limb hypertonia OMIM:619580
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Death in infancy, Short neck, Flexion contracture, Elbow flexion contracture, Kn... OMIM:300868
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hemolytic anemia, Pericarditis, Portal hypertension, Pericardial e... OMIM:619487
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Choanal Atresia
Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno... ORPHA:137914
Atrial Septal Defect, Ostium Primum Type
Cyanosis, Left atrial enlargement, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Ai... ORPHA:99106
Bacterial Toxic-Shock Syndrome
Respiratory distress, Myositis, Sinusitis, Pneumonia, Elevated circulating creatine kinase concen... ORPHA:36234
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure ORPHA:1861
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Tachypnea, Respiratory insuffic... OMIM:613658
Joubert Syndrome 3
Central apnea, Enlarged fossa interpeduncularis, Episodic tachypnea, Lateral ventricle dilatation... OMIM:608629
Dubowitz Syndrome
Delayed eruption of teeth, Sacral dimple, Cutis marmorata, Abnormality of neutrophils, Thrombocyt... ORPHA:235
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemi... OMIM:557000
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Premature graying of hair, Leukopenia, Neu... OMIM:613989
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic... ORPHA:331206
Mogs-Cdg
Respiratory distress, Hypoventilation, Thoracic scoliosis, Apnea, Cardiomegaly, Hepatosplenomegal... ORPHA:79330
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Dextrotransposition of the great arteries, Colp... OMIM:618619
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Pneumonia, Splenomegaly, Myopathy, Thrombocytopenia ORPHA:169090
Von Willebrand Disease, Type 3
Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Thrombocytopenia OMIM:277480
Alg2-Cdg
Abnormal circulating enzyme concentration or activity, Lateral ventricle dilatation ORPHA:79326
Gaucher Disease, Type Ii
Death in infancy, Apnea, Splenomegaly, Anemia, Stridor, Cough, Recurrent aspiration pneumonia, Th... OMIM:230900
Craniosynostosis 6
Lateral ventricle dilatation, Scoliosis, Spina bifida occulta, Agenesis of corpus callosum, Dandy... OMIM:616602
Tarp Syndrome
Extramedullary hematopoiesis, Cyanosis, Apnea, Scoliosis, Atrial septal defect, Intrauterine grow... ORPHA:2886
Infantile Krabbe Disease
Respiratory distress, Abnormal circulating enzyme concentration or activity, Respiratory failure,... ORPHA:206436
Martsolf Syndrome 2
Lateral ventricle dilatation, Camptodactyly of finger, Camptodactyly OMIM:619420
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Pancytopenia, Thrombocytopenia, Jaundice, Splenomegaly, Hepatosple... OMIM:603553
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Large placenta, Flexion contracture, Macroglossia, Respiratory failure, Camptoda... ORPHA:254528
Alg12-Cdg
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Ventriculom... ORPHA:79324
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Thrombocytopenia ORPHA:79242
Fanconi Anemia, Complementation Group E
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Abnormal heart morphology, Neutropenia, Leukem... OMIM:600901
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Splenomegaly, Hepatitis, Chronic hepatitis, Hypoxemia, Neutropenia, Thrombocyto... OMIM:308230
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... ORPHA:100026
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Colpocephaly, Distal arthrogryposis, Scoliosis, Intrauterine growth retardation, V... OMIM:619833
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Intrauterine growth retardation, Prolonged neonatal jaundice, HbH hemoglobin, Limb hypertonia ORPHA:423479
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated hepatic transaminase, Occipital encephalocele, Small cervical vertebral bodies, Dandy-Wa... ORPHA:397715
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Kyphoscoliosis, Hyposegmentation of neutrophil nuclei, Lateral ventricle dilatation, Atrial septa... OMIM:620075
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Umbilical hernia, Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet aggregation, Bruising su... OMIM:614074
Proteasome-Associated Autoinflammatory Syndrome 2
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytopenia OMIM:618048
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Central Neurocytoma
Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Premature graying of hair, Leukopenia, Decreased DLCO, Intrauterin... OMIM:613990
Buerger Disease
Acrocyanosis ORPHA:36258
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Megaloblastic anemia, Pulmonary embolism, Jaundice, Dilated cardiomyopathy,... ORPHA:79282
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Fanconi Anemia, Complementation Group F
Sacral dimple, Pneumonia, Anemia, Leukopenia, Atrial septal defect, Intrauterine growth retardati... OMIM:603467
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Neonatal respiratory distress, Kyphosis, Scoliosis, Death in ... OMIM:619005
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leu... ORPHA:508542
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Dyspnea, Premature graying of hair, Leukopenia, Interstitial p... OMIM:127550
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia, Petechiae, Purpura OMIM:605432
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Thrombocytopenia, Anemia, Leukopenia, Hypopnea, Microangio... ORPHA:2330
Absence Of The Pulmonary Artery
Orthopnea, Cyanosis, Abnormal hemidiaphragm morphology, Cardiomegaly, Nonproductive cough, Dyspne... ORPHA:980
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Dyspnea, Bronchiectasis, Anemia, Cough, Thrombocytopenia ORPHA:169105
Esophageal Atresia
Respiratory distress, Cyanosis, Ventricular septal defect, Episodic respiratory distress, Chronic... ORPHA:1199
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Hypoplasia of the thymus, Neutropen... ORPHA:906
Fanconi Anemia, Complementation Group A
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Abnormal heart morphology, Neutropenia, Leukem... OMIM:227650
Waardenburg Syndrome Type 3
Atrial septal defect, Acrocyanosis, Camptodactyly of finger, Tracheomalacia ORPHA:896
Ebola Hemorrhagic Fever
Dyspnea, Hepatitis, Leukopenia, Cough, Lymphopenia, Thrombocytopenia ORPHA:319218
Necrotizing Enterocolitis
Apnea, Leukocytosis, Abnormal heart morphology, Neutropenia, Thrombocytopenia ORPHA:391673
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Flexion contracture, Recurrent pneumonia, Leukopenia, Neutropenia, Intraute... OMIM:616271
Gaucher Disease
Death in infancy, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Abno... ORPHA:355
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Kyphoscoliosis, Kyphosis, Reduced alpha/beta synthesis ratio, Hemivert... OMIM:301040
Fucosidosis
Decreased muscle mass, Cardiomegaly, Kyphosis, Anterior beaking of lumbar vertebrae, Acrocyanosis... ORPHA:349
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Decreased methylmalonyl-CoA mutase activ... OMIM:251100
Atelis Syndrome 2
Sacral dimple, Thrombocytopenia, Kyphosis, Dyspnea, Supravalvar pulmonary stenosis, Pulmonic sten... OMIM:620185
Takenouchi-Kosaki Syndrome
Ventriculomegaly, Increased mean platelet volume, Abnormal cardiac septum morphology, Pulmonic st... OMIM:616737
Radio-Renal Syndrome
Respiratory distress, Short neck, Dyspnea, Abnormal form of the vertebral bodies, Respiratory fai... ORPHA:3015
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
21Q22.11Q22.12 Microdeletion Syndrome
Sacral dimple, Anemia, Camptodactyly, Atrial septal defect, Agenesis of corpus callosum, Thromboc... ORPHA:261323
Noonan Syndrome 14
Lymphopenia, Scapular winging, Short neck, Kyphosis, Mitral valve prolapse, Lateral ventricle dil... OMIM:619745
Cach Syndrome
Flexion contracture, Hepatosplenomegaly, Lateral ventricle dilatation, Intrauterine growth retard... ORPHA:135
Shigellosis
Pneumonia, Myocarditis, Leukocytosis, Rhabdomyolysis, Urticaria, Microangiopathic hemolytic anemi... ORPHA:810
Rift Valley Fever
Elevated hepatic transaminase, Back pain, Miscarriage, Jaundice, Hepatitis, Anemia, Thrombocytopenia ORPHA:319251
Thymoma
Myositis, Aplastic anemia, Pure red cell aplasia, Dyspnea, Imbalanced hemoglobin synthesis, Cough... ORPHA:99867
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Short neck, Hydrocephalus, Congenital contracture, Colpocephaly, Agenesis of corpus callosum, Ven... OMIM:620156
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Anterior concavity of thoracic vertebrae OMIM:617101
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Fanconi Anemia, Complementation Group D2
Pancytopenia, Thrombocytopenia, Hydrocephalus, Reticulocytopenia, Abnormal heart morphology, Neut... OMIM:227646
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Immunodeficiency 47
Elevated hepatic transaminase, Normocytic anemia, Accessory spleen, Death in infancy, Elevated ci... OMIM:300972
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Hypoplasia of ... OMIM:603554
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Ventriculomegaly, Poo... ORPHA:2072
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Jaundice, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia OMIM:267700
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Joint contracture of the 5th finger OMIM:614407
Poliomyelitis
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Hypoplasia of the mu... ORPHA:2912
Dravet Syndrome
Cyanotic episode ORPHA:33069
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Muscle hemorrhage, Abnormal heart morphology, Spondylolysis, Cough, Hypertrophic... ORPHA:464321
Jacobsen Syndrome
Death in infancy, Ventriculomegaly, Ventricular septal defect, Spina bifida, Short neck, Abnormal... ORPHA:2308
Slc35A2-Cdg
Elevated hepatic transaminase, Limb joint contracture, Camptodactyly of finger, Abnormal heart mo... ORPHA:356961
Deeah Syndrome
Decreased hemoglobin concentration, Cervical hemivertebrae, Neonatal respiratory distress, Death ... OMIM:619004
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, A... ORPHA:99104
Peroxisome Biogenesis Disorder 5A (Zellweger)
Death in infancy, Increased circulating lactate dehydrogenase concentration, Ventricular septal d... OMIM:614866
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Elevated hemoglobin A1c OMIM:619278
Giant Axonal Neuropathy 1, Autosomal Recessive
Distal amyotrophy, Facial palsy, Scoliosis, Lateral ventricle dilatation OMIM:256850
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia, Abnormal heart morphology ORPHA:1867
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abnormal proportion of CD8-... ORPHA:125
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Cutis marmorata, Cardiomega... ORPHA:51
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Ventricular septal defect, Contractures of the large joints, Lateral ve... ORPHA:3078
Pontocerebellar Hypoplasia, Type 13
Asthma, Lateral ventricle dilatation, Decreased liver function, Pleural effusion, Dandy-Walker ma... OMIM:618606
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Hydrocephalus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ven... OMIM:612863
Cog5-Cdg
Elevated hepatic transaminase, Camptodactyly of finger, Short neck, Hepatosplenomegaly, Lateral v... ORPHA:263487
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Aortic Arch Interruption
Respiratory distress, Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Tachypnea, Aort... ORPHA:2299
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Ventricular septal defect, Increased pulmonary vascular resistanc... ORPHA:97214
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Malignant Atrophic Papulosis
Telangiectasia of the skin, Abnormal pericardium morphology, Respiratory failure, Abnormal myocar... ORPHA:679
Histiocytoid Cardiomyopathy
Cyanosis, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Tachypnea, Cough, Agenesis of c... ORPHA:137675
Adams-Oliver Syndrome 2
Hydrocephalus, Cutis marmorata, Lateral ventricle dilatation, Limb hypertonia OMIM:614219
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Fingerpa... OMIM:187300
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Acute Radiation Syndrome
Telangiectasia, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Thrombocytopenia ORPHA:454831
Myhre Syndrome
Vertebral fusion, Ventricular septal defect, Short neck, Pericardial effusion, Generalized muscle... OMIM:139210
Diamond-Blackfan Anemia 21
Cutis marmorata, Secundum atrial septal defect, Erythroid hypoplasia, Anemia, Thrombocytopenia OMIM:620072
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Sacral dimple, Ventricular septal defect, Dextrotransposition of the great arteries, Lower limb h... OMIM:619995
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Death in childhood OMIM:619517
Lead Poisoning
Delayed eruption of teeth, Miscarriage, Asthma, Imbalanced hemoglobin synthesis, Abnormal respira... ORPHA:330015
Gaucher Disease Type 3
Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Pericardial effusion, ... ORPHA:77261
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Thrombocytosis, Elevated circulating creatine kinase concentration... ORPHA:94093
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methionine synthase activity, Megaloblastic anemia, Hydrocephalus, Neutropenia, Decreas... OMIM:277400
Ogden Syndrome
Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Short neck, Iron defic... OMIM:300855
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Purpura OMIM:235400
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Portal hypertension, Splenomegaly, Jaundice, Hepatic failure, Thro... OMIM:251880
Thrombocytopenia-Absent Radius Syndrome
Fused cervical vertebrae, Abnormal cardiac septum morphology, Scoliosis, Tetralogy of Fallot, Thr... ORPHA:3320
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Sacral dimple, Congenital diaphragmatic hernia, Dyspnea, Hydrocephalus, Dil... ORPHA:2556
Khan-Khan-Katsanis Syndrome
Sacral dimple, Ventriculomegaly, Colpocephaly, Scoliosis, Neutropenia, Intrauterine growth retard... OMIM:618460
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis recti, Short ne... ORPHA:96334
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra... OMIM:301078
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Apnea, Splenomegaly, Dyspnea, Respiratory failure, Chroni... OMIM:615636
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, A... ORPHA:158048
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Death in infancy, Abnormal hemoglobin, Flexion contracture, Macroglossia, Agenesis of corpus call... ORPHA:847
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Pneumonia, Pericardial effusion, Thrombocytopenia, Splenomegaly, ... OMIM:615846
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency, Knee flexion contracture, Weakness of facial musculature OMIM:617239
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Splenomegaly, Jaundice, Joint contracture of the hand, Vertebral compression fr... OMIM:263700
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Ventricular septal defect, Elevated circulating aspartate aminotra... OMIM:619525
Cyclic Neutropenia
Sinusitis, Cyclic neutropenia, Decreased eosinophil count, Lymphopenia, Thrombocytopenia ORPHA:2686
Costello Syndrome
Ventricular septal defect, Rhabdomyosarcoma, Short neck, Tracheomalacia, Achilles tendon contract... OMIM:218040
Ivic Syndrome
Leukocytosis, Small thenar eminence, Pectoralis major hypoplasia, Scoliosis, Tetralogy of Fallot,... OMIM:147750
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Retinal telangiectasia, Thrombocytopenia, Premature graying of hair, Scoliosis, Intrauterine grow... OMIM:612199
Gaisböck Syndrome
Plethora, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin concentration, Increased h... ORPHA:90041
Combined Oxidative Phosphorylation Defect Type 39
Abnormal circulating enzyme concentration or activity, Congenital foot contractures, Lateral vent... ORPHA:565624
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Decreased mean platelet volume, Petechiae OMIM:273900
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Scoliosis, Thrombocytopenia, Limb hypertonia ORPHA:457351
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Portal hypertension, Hypersplenism, Splenomegaly, Jaun... ORPHA:731
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Elevated circulating alkaline phosphatase concentration, Lateral ventricle dilatation OMIM:615716
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Stridor, Respirat... ORPHA:79404
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:601494
Jacobsen Syndrome
Ventricular septal defect, Short neck, Hydrocephalus, Flexion contracture, Holoprosencephaly, Atr... OMIM:147791
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Sacral dimple, Exencephaly ORPHA:2211
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Myocarditis, Thrombocytopenia, Erythema, Splenomegaly, Leukopenia,... ORPHA:50918
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Bicuspid pulmona... ORPHA:3427
Bernard-Soulier Syndrome
Spontaneous, recurrent epistaxis, Petechiae, Asthma, Giant platelets, Decreased platelet glycopro... ORPHA:274
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Cardiac Valvular Dysplasia 1
Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmon... OMIM:212093
Truncus Arteriosus
Cyanosis, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tachypnea, Ab... ORPHA:3384
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Pericarditis, Anemia OMIM:615758
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Erythema, Recurrent pneumonia, Telangi... ORPHA:420741
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia, Spontaneous hematomas, Ecchymosis, Petechiae, Purpura ORPHA:853
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Wilson Disease
Acute hepatic failure, Hemolytic anemia, Elevated circulating aspartate aminotransferase concentr... OMIM:277900
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Dilated cardiomyopathy, Cyanosis ORPHA:2326
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Hydrocephalus, Respiratory insufficiency, Anemia, Atrial septal defect... ORPHA:163979
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, Lateral ventricle dilatation, Joint contracture of the 4th finger, Joint c... OMIM:618914
Osteopetrosis, Autosomal Recessive 7
Death in infancy, Splenomegaly, Hydrocephalus, Recurrent pneumonia, Lateral ventricle dilatation,... OMIM:612301
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP-induced plate... OMIM:608233
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Pulmonary embolism, Abnormal erythrocyte enzyme ... ORPHA:447
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Atrial septal defect, Agenesis of corpu... OMIM:615219
Thrombocytopenia 6
Spontaneous, recurrent epistaxis, Thrombocytopenia OMIM:616937
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Facial palsy, Hypercapnia, Pneumonia, Dyspnea... ORPHA:79138
Brucellosis
Pericarditis, Miscarriage, Pneumonia, Hypersplenism, Myocarditis, Leukocytosis, Thrombocytopenia,... ORPHA:1304
Osteogenesis Imperfecta
Abnormal endocardium morphology, Delayed eruption of teeth, Neonatal respiratory distress, Ventri... ORPHA:666
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure OMIM:614862
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
22Q11.2 Deletion Syndrome
Short neck, Hypoplasia of the thymus, Atrial septal defect, Spina bifida, Chronic pulmonary obstr... ORPHA:567
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Shwachman-Diamond Syndrome 2
Normocytic anemia, Death in infancy, Neutropenia, Death in childhood, Thrombocytopenia OMIM:617941
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Thrombocytopenia 1
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Bruising susceptibility... OMIM:313900
Holocarboxylase Synthetase Deficiency
Tachypnea, Thrombocytopenia, Hyperventilation OMIM:253270
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hepatitis, Neutropenia in presence of a... ORPHA:391487
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Skeletal muscle atrophy, Respiratory failure requiring assisted ve... ORPHA:273
Ethylene Glycol Poisoning
Cyanosis, Facial palsy, Episodic respiratory distress, Tachypnea, Abnormal pattern of respiration ORPHA:31826
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Ventricular septal defect, Shoulder muscle hypoplasia, Spina bifida, Eosinophil... OMIM:274000
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Crackles, Rhabdomyolysis, Tachypnea, Decrease... ORPHA:466650
Niemann-Pick Disease Type C
Bone-marrow foam cells, Low cholesterol esterification rate, Splenomegaly, Jaundice, Aplasia/Hypo... ORPHA:646
Cardiac Valvular Dysplasia 2
Bicuspid aortic valve, Central cyanosis, Pulmonic stenosis, Subvalvular aortic stenosis, Dysplast... OMIM:620067
Tick-Borne Encephalitis
Elevated hepatic transaminase, Skeletal muscle atrophy, Back pain, Facial palsy, Leukocytosis, Le... ORPHA:297
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Reticulocytosis, Pericarditis, Lymphopenia, Back pain, Elevated ci... ORPHA:99826
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Ventriculomegaly, Spina bifida, Hydrocephalus, Anemia... ORPHA:84
Caroli Syndrome
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Intrahepatic cholestasis, Jaun... ORPHA:480520
Hardikar Syndrome
Elevated hepatic transaminase, Ventricular septal defect, Thoracolumbar scoliosis, Portal hyperte... OMIM:301068
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Short neck, Partial agenesis of the corpus callosum, Flexion contracture, Knee flexion contractur... OMIM:210710
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Dyskeratosis Congenita
Telangiectasia of the skin, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Premature... ORPHA:1775
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Alobar holoprosencephaly, Vertebral clefting, Agenesis of corpus callo... OMIM:301043
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Rhabdomyosarcoma, Recurrent ... OMIM:251260
Osteopetrosis With Renal Tubular Acidosis
Abnormal circulating enzyme concentration or activity, Pancytopenia, Elevated circulating creatin... ORPHA:2785
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ventricular septal defect, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, ... OMIM:620113
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia ORPHA:83601
Tangier Disease
Thrombocytopenia, Hepatosplenomegaly, Facial diplegia, Left ventricular hypertrophy, Coronary art... ORPHA:31150
Nocardiosis
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,... ORPHA:31204
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Thrombocytopenia, Splenomegaly, Respiratory insufficiency, Leukopenia, H... OMIM:222700
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Ventricular septal defect, Neonatal asphyxia, Dyspnea, Wheezing, ... ORPHA:141127
Chronic Visceral Acid Sphingomyelinase Deficiency
Respiratory failure requiring assisted ventilation, Abnormal heart valve morphology, Autoimmune t... ORPHA:77293
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Ventricular septal defect, Aortopulmonary window, Hypoplastic left heart, Transposition... ORPHA:99050
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra... OMIM:613426
Cornelia De Lange Syndrome 1
Delayed eruption of teeth, Ventricular septal defect, Cutis marmorata, Congenital diaphragmatic h... OMIM:122470
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Spina bifida, Short neck, Kyphoscoliosis, Hydrocephalus, Respiratory insuffici... OMIM:304120
Pearson Syndrome
Elevated hepatic transaminase, Reticulocytosis, Pancytopenia, Thrombocytopenia, Splenomegaly, Abn... ORPHA:699
Malan Overgrowth Syndrome
Ventriculomegaly, Scoliosis, Lateral ventricle dilatation ORPHA:420179
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart... ORPHA:457279
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Ventriculomegaly, Increased mean platelet volume, Flexion contracture, Abnormal heart morphology,... ORPHA:487796
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Increased circulating lactate dehydrogenase concentration, Neutrophilia, Epistaxis,... ORPHA:99827
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Cutis marmorata, Lymphocytic interstitial ... ORPHA:289390
Fibular Hemimelia
Thrombocytopenia, Spina bifida, Abnormal heart morphology ORPHA:93323
Vexas Syndrome
Macrocytic anemia, Thrombocytopenia OMIM:301054
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Ivic Syndrome
Leukocytosis, Scoliosis, Thrombocytopenia ORPHA:2307
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Skeletal muscle atrophy, Camptodactyly of finger, Progeroid facial... OMIM:256040
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cardiom... OMIM:300967
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy, Respiratory failure, Patent urachus, Death in childhood OMIM:618252
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Increased circu... ORPHA:90038
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Lumbar hyperlordosis, Kyphoscoliosis, Dysplastic corpus callosum, H... ORPHA:500150
Goodpasture Syndrome
Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Anemia, Exe... OMIM:233450
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration, Lateral ventricle dilatation, Flexion contracture, Scoliosis ORPHA:2148
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Ventricular septal defect, Death in adolescence, Lateral ventricle dil... OMIM:619229
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocarditis, Erythema, ... ORPHA:221
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Lysinuric Protein Intolerance
Elevated hepatic transaminase, Thrombocytopenia, Respiratory insufficiency, Abnormal heart morpho... ORPHA:470
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Kyphosis, Recurrent pneumonia, Lateral ventricle dilatation, Scoliosis... ORPHA:464738
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Delayed eruption of teeth, Mitral valve calcification, Prominent superfi... ORPHA:740
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Respiratory insufficiency, Colpocephaly, Mitral stenosis, Agenesis of corpus callosum, Ventriculo... OMIM:617260
Liver Disease, Severe Congenital
Cardiomegaly, Leukopenia, Lymphocytosis, Cough, Atrial septal defect, Patent foramen ovale, Umbil... OMIM:619991
Tuberous Sclerosis Complex
Respiratory distress, Noncommunicating hydrocephalus, Cardiac rhabdomyoma, Respiratory failure, S... ORPHA:805
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardio... ORPHA:293987
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis, Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
Leptospirosis
Respiratory distress, Pericarditis, Jaundice, Rhabdomyolysis, Hepatitis, Cough, Elevated serum tr... ORPHA:509
Glutaric Acidemia I
Reduced peroxisomal glutaryl-CoA oxidase activity, Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Fraser Syndrome 2
Respiratory failure, Hypoplasia of the thymus, Short neck OMIM:617666
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Oculocerebrorenal Syndrome Of Lowe
Delayed eruption of teeth, Death in infancy, Ventriculomegaly, Thrombocytopenia, Kyphosis, Respir... ORPHA:534
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Dysplastic corpus callosum, Asthma, Lateral ventricle dilatation, Dilated third ve... ORPHA:544488
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Pleural effusion, Normochromic anemia, Thrombocytopenia OMIM:254900
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Severe photosensitivity, Leukopeni... ORPHA:79277
Long Qt Syndrome 15
Left ventricular noncompaction OMIM:616249
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Progeroid facial appearance, Flexion contracture, Recurrent pneu... OMIM:614098
Pitt-Hopkins Syndrome
Short neck, Scoliosis, Failure of eruption of permanent teeth, Acrocyanosis, Abnormal pattern of ... ORPHA:2896
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Lower limb hypertonia, Lateral ventricle dilatation, Dil... OMIM:617296
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Recurrent pneumonia, Decreased mean platelet volume, Lymphocytosis, Vasculitis in the skin, Throm... OMIM:617718
Sacral Defect With Anterior Meningocele
Back pain, Myeloschisis, Absence of the sacrum, Hemisacrum, Myelomeningocele, Meningocele, Hydroc... OMIM:600145
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
Aicardi Syndrome
Dandy-Walker malformation, Block vertebrae, Spina bifida, Partial agenesis of the corpus callosum... OMIM:304050
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased sensitivity to hypoxemia, Acrocyanosis, Scoliosis OMIM:223900
Ear-Patella-Short Stature Syndrome
Respiratory distress, Camptodactyly of finger, Dyspnea, Respiratory failure, Intrauterine growth ... ORPHA:2554
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Abnormal heart morphology ORPHA:268943
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Sarcoidosis
Hemolytic anemia, Facial palsy, Portal hypertension, Eosinophilia, Thrombocytopenia, Increased T ... ORPHA:797
Acute Liver Failure
Elevated hepatic transaminase, Jaundice, Hepatitis, Abnormal respiratory system physiology, Hypoc... ORPHA:90062
Yellow Fever
Low back pain, Neutrophilia, Elevated circulating aspartate aminotransferase concentration, Eleva... ORPHA:99829
Weaver Syndrome
Diastasis recti, Kyphosis, Lateral ventricle dilatation, Scoliosis, Camptodactyly, Umbilical hern... OMIM:277590
Linear Skin Defects With Multiple Congenital Anomalies 3
Delayed eruption of primary teeth, Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocy... OMIM:300952
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Pneumonia, Myocarditis, Leukocytosis, Dyspnea, Pleural empyema, Thrombocytopenia ORPHA:544482
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Short neck, Dyspnea, Abno... ORPHA:2636
Digeorge Syndrome
Pilonidal sinus, Ventricular septal defect, Thrombocytopenia, Splenomegaly, Chronic pulmonary obs... OMIM:188400
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Colp... OMIM:309801
Mosaic Trisomy 1
Thoracic scoliosis, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic ... ORPHA:1692
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Premature graying of hair, Leukopenia, Re... OMIM:305000
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Respiratory distress, Cyanosis, Elevated alkaline phosphatase of bone or... ORPHA:51608
Postinfectious Vasculitis
Viral hepatitis, Palpable purpura, Cutis marmorata, Pneumonia, Cardiomyopathy, Vasculitis in the ... ORPHA:48435
Roberts Syndrome
Progressive flexion contractures, Short neck, Knee flexion contracture, Severe intrauterine growt... ORPHA:3103
Primary Hyperoxaluria
Elevated hepatic transaminase, Cardiomyopathy, Acrocyanosis, Cutis marmorata ORPHA:416
Smith-Lemli-Opitz Syndrome
Death in infancy, Sacral dimple, Ventricular septal defect, Splenomegaly, Partial agenesis of the... OMIM:270400
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Ky... OMIM:163950
Choreoacanthocytosis
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... ORPHA:2388
Autosomal Recessive Spastic Paraplegia Type 11
Generalized limb muscle atrophy, Distal amyotrophy, Lateral ventricle dilatation, Scoliosis, Lowe... ORPHA:2822
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Inlet ventricula... OMIM:619534
Kabuki Syndrome 1
Hemolytic anemia, Ventricular septal defect, Autoimmune thrombocytopenia, Hydrocephalus, Lateral ... OMIM:147920
Familial Dysautonomia
Acrocyanosis, Scoliosis ORPHA:1764
Systemic Lupus Erythematosus
Leukopenia, Thrombocytopenia, Cutaneous photosensitivity, Hemolytic anemia ORPHA:536
Insulin-Resistance Syndrome Type B
Leukopenia, Pneumonia, Thrombocytopenia ORPHA:2298
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation, Gliosis OMIM:607485
Helsmoortel-Van Der Aa Syndrome
Facial palsy, Hyperlordosis, Mitral valve prolapse, Abnormal heart morphology, Advanced eruption ... OMIM:615873
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormality of the cervical spine, Natal tooth, Abnormal lateral ventricle morphology, Bicuspid a... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormality of the cervical spine, Natal tooth, Abnormal lateral ventricle morphology, Bicuspid a... ORPHA:353277
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta... OMIM:610655
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Mitral valve prolapse, Tricuspid valve prolapse,... ORPHA:287
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Neonatal respiratory distress, Flexion contracture, Ventriculomegaly, Lateral ventricle dilatation OMIM:619479
Ulbright-Hodes Syndrome
Respiratory distress, Short neck, Pneumothorax, Ovoid thoracolumbar vertebrae, Respiratory failur... ORPHA:3404
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Ventricular septal defect, Lateral ventricle dilatation OMIM:619575
Coffin-Lowry Syndrome
Cutis marmorata, Kyphosis, Lumbar kyphosis, Scoliosis, Acrocyanosis, Ventriculomegaly OMIM:303600
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Platyspondyly, Ventricular septal defect, Lateral ventricle dilatation OMIM:263520
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Colpocephaly, Scoliosis OMIM:620083
Genitourinary And/Or Brain Malformation Syndrome
Kyphoscoliosis, Dysplastic corpus callosum, Colpocephaly, Holoprosencephaly, Agenesis of corpus c... OMIM:618820
Hypermobile Ehlers-Danlos Syndrome
Apnea, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Umbilical hernia, Acrocya... ORPHA:285
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia, Myositis, Abnormality of the extraocular muscles ORPHA:79078
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Bicuspid aortic valve, Camptodactyly of finger, Ventricular septal ... OMIM:607872
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Lower limb hypertonia, Patent foramen ovale, Colpocephaly ORPHA:477993
6Q Terminal Deletion Syndrome
Colpocephaly, Scoliosis, Short neck ORPHA:75857
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Ventricular septal defect, Knee flexion contracture, ... OMIM:606170
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Double inlet left ventricle, Lateral ventricle dilatation, Atrial septa... OMIM:619869

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 Thap11

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 Thap11.

No publications found that use IMPC mice or data for Thap11.

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MGI Allele Allele Type Produced
Thap11tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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