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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
Spinal rigidity, Scoliosis, Elevated circulating creatine kinase concentration, Death in adolesce... OMIM:300717
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal form of the vertebral bodies, Scoliosis, Thrombocytopenia, Abnormal hemoglobin, ... ORPHA:3319
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Hip flexor weakness, Facial hypotonia, Respiratory insufficiency, Autophagic vacuoles, EMG: myopa... ORPHA:266
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Spondylolisthesis at L5-S1, Limb muscle weakness, Atlantoaxial instability, Hand m... OMIM:600561
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Spinal Muscular Atrophy, Type I
Death in childhood, Respiratory insufficiency, Spinal muscular atrophy, Proximal amyotrophy, Resp... OMIM:253300
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Skeletal muscle hypertrophy, Scoliosis, Calf muscle hypertrophy, Hypog... ORPHA:370968
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Thrombocytopenia, Agenesis of corpus callosum OMIM:166990
Cyanosis, Transient Neonatal
Jaundice, Anemia, Reticulocytosis, Cyanosis, Methemoglobinemia OMIM:613977
Pontocerebellar Hypoplasia, Type 15
Anemia, Hydrocephalus, Chronic neutropenia, Death in infancy, Thrombocytopenia, Agenesis of corpu... OMIM:619302
Muscular Dystrophy, Congenital, 1B
Muscular dystrophy, Spinal rigidity, Facial palsy, Elevated circulating creatine kinase concentra... OMIM:604801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Muscular dystrophy, Scoliosis, Hyperlordosis, Calf muscle hypertrophy, Facial palsy, Kyphosis, EM... OMIM:606612
Congenital Myopathy 14
Knee flexion contracture, Abnormal circulating creatine kinase concentration, Elbow flexion contr... OMIM:618414
Bilateral Striopallidodentate Calcinosis
Intrauterine growth retardation, Ventriculomegaly, Subcutaneous hemorrhage, Thrombocytopenia ORPHA:1980
Pontocerebellar Hypoplasia, Type 1C
Death in childhood, Respiratory insufficiency, Spinal muscular atrophy, Joint contracture, Skelet... OMIM:616081
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Scoliosis, Facial palsy, EMG: myopathic abnormalities, Muscle fiber ne... OMIM:614399
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Aicardi-Goutieres Syndrome 4
Death in childhood, Elevated circulating hepatic transaminase concentration, Pancytopenia, Hydroc... OMIM:610333
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Elevated circulating hepatic transaminase concentration, Thrombo... OMIM:189800
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Ventriculomegaly, Death in infancy OMIM:611722
Ullrich Congenital Muscular Dystrophy
Spinal rigidity, Torticollis, Scoliosis, Elbow flexion contracture, EMG: myopathic abnormalities,... ORPHA:75840
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Ventriculomegaly, Gliosis, Elevated circul... ORPHA:168486
Beemer Lethal Malformation Syndrome
Hydrocephalus, Thrombocytopenia OMIM:209970
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Respiratory insufficiency, Elevated circulating creatine kinase concentration... OMIM:613869
Congenital Toxoplasmosis
Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Hydrocephalus, Thrombo... ORPHA:858
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Upper limb muscle weakness, Fiber type grouping, Skeletal muscle atrophy, Respir... OMIM:620452
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Facial diplegia, Kyphosis, Short neck, Respiratory insufficiency due to muscle weaknes... OMIM:611890
Pontocerebellar Hypoplasia, Type 14
Hydrocephalus, Chronic neutropenia, Death in infancy, Thrombocytopenia, Agenesis of corpus callosum OMIM:619301
Perching Syndrome
Scoliosis, Joint contracture, Camptodactyly, Cyanosis OMIM:617055
Stuve-Wiedemann Syndrome 2
Stillbirth, Scoliosis, Death in adolescence, Camptodactyly, Neonatal death, Thrombocytopenia, Int... OMIM:619751
Nemaline Myopathy 8
Facial palsy, Nemaline bodies, Myofibrillar myopathy, Death in infancy, Flexion contracture, Resp... OMIM:615348
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure, Gliosis, Congenital contracture OMIM:225753
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure, Abnormal circulating enz... ORPHA:132
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, M... ORPHA:2133
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Postsynaptic Congenital Myasthenic Syndromes
Hip flexor weakness, Cyanosis, Abnormality of masticatory muscle, Scoliosis, Thoracic kyphoscolio... ORPHA:98913
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Kyphosis, Thoracolumbar scoliosis, Hip contracture, Knee flexion contr... OMIM:313420
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Fetal Parvovirus Syndrome
Intrauterine growth retardation, Thrombocytopenia, Anemia, Hypertrophic cardiomyopathy ORPHA:295
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal circulating enzyme concentration or activity, Scoliosis, Respiratory insufficiency due t... ORPHA:2590
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Stillbirth, Abnormal vertebral morphology, Abnormality of the vertebral colu... OMIM:276950
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure, Gliosis OMIM:618328
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased endomysial connective tissue, Generalized limb muscle atrophy, Type ... OMIM:620249
Eosinophilia, Familial
Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Thrombocytopenia, Eosinophilia OMIM:131400
Hyperekplexia 4
Kyphoscoliosis, Camptodactyly, Distal arthrogryposis, Flexion contracture, Umbilical hernia, Resp... OMIM:618011
Aicardi-Goutieres Syndrome 3
Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Death in childhood, He... OMIM:610329
Immunodeficiency 95
Respiratory failure, Lymphopenia OMIM:619773
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Ky... ORPHA:352447
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Spina bifida occulta, Scoliosis, Kyphosis, Arthrogryposis multiplex congenita, Res... OMIM:618291
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase... OMIM:619386
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Upper limb muscle weakness, Elevated circulat... ORPHA:90117
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Scoliosis, Ventilator dependence with inability to wean, Spinal muscul... ORPHA:254875
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Elevated circulating alanine aminotransferase conc... OMIM:245400
Triosephosphate Isomerase Deficiency
Normocytic anemia, Chronic hemolytic anemia, Jaundice, Normochromic anemia, Macrocytic anemia, Re... OMIM:615512
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, Left ventricular hypert... OMIM:613424
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Abnormal circulating lactate dehydrogenase concentration, Microangiopathic hemo... ORPHA:2134
Congenital Disorder Of Glycosylation, Type Iik
Kyphoscoliosis, Elevated circulating creatine kinase concentration, Elevated circulating alanine ... OMIM:614727
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Muscle fiber splitting, Calf muscle hypertrophy, Rimmed vacuoles, Scapular winging, Elevated circ... OMIM:603689
Breath-Holding Spells
Cyanosis, Iron deficiency anemia OMIM:607578
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Abnormal erythrocyte morphology ORPHA:71277
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Neuralgic Amyotrophy
Respiratory insufficiency, Scapular winging, Upper limb muscle weakness, Upper limb amyotrophy, A... ORPHA:2901
Avian Influenza
Elevated circulating hepatic transaminase concentration, Miscarriage, Elevated circulating creati... ORPHA:454836
Beta-Thalassemia
Anemia, Respiratory insufficiency, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly, A... ORPHA:848
Congenital Myopathy 21 With Early Respiratory Failure
Spinal rigidity, Elevated circulating creatine kinase concentration, EMG: myopathic abnormalities... OMIM:620326
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Short neck, Intrauterine growth retardation ORPHA:1832
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Spontaneous hematomas, Thrombocytopenia, Anemia OMIM:616176
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce... OMIM:619130
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Ventricular septal defect, Hypertrophic cardiomyopathy, Death in infancy OMIM:616277
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Petechiae, Thrombo... OMIM:187800
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Decreased acid sphingomyelinase activity,... OMIM:607616
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Scoliosis, Hyperlordosis, Cardiomyopathy, Calf... OMIM:310200
Noonan Syndrome 12
Spinal canal stenosis, Thrombocytopenia, Tetralogy of Fallot, Lymphopenia, Ventriculomegaly, Vent... OMIM:618624
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Decreased circulating nicotinamide adenine dinucleotide-cytochrome b5 reductase activity, Polycyt... OMIM:250800
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Death in adolescence, Hypertrophic cardiomyopathy, Cardiomyocyte hypertroph... OMIM:612158
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Alg1-Cdg
Decreased liver function, Scoliosis, Cardiomyopathy, Kyphosis, Abnormal heart morphology, Respira... ORPHA:79327
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Limb... OMIM:613954
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice, Elevated circulating hepatic transaminase concentration ORPHA:890
Metatropic Dysplasia
Kyphoscoliosis, Caudal appendage, Relatively short spine, Respiratory insufficiency, Scoliosis, L... OMIM:156530
Intermediate Nemaline Myopathy
Facial diplegia, Facial palsy, EMG: myopathic abnormalities, Nemaline bodies, Arthrogryposis mult... ORPHA:171433
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, Thrombocytop... OMIM:269600
Babesiosis
Jaundice, Respiratory insufficiency, Thrombocytopenia, Leukopenia, Splenomegaly, Hemolytic anemia... ORPHA:108
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Respiratory failure OMIM:616794
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Neonatal Lupus Erythematosus
Aplastic anemia, Anemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, H... ORPHA:398124
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Bruising susceptibility, Microcyt... ORPHA:231401
Dk Phocomelia Syndrome
Thrombocytopenia, Encephalocele OMIM:223340
Amegakaryocytic Thrombocytopenia, Congenital, 1
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Myopathy, Hypertrophic cardiomyopathy ORPHA:91130
Chiari Malformation Type Ii
Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Limb muscle weakness, Agenesi... OMIM:207950
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Cardiomyopathy, Thrombocytopenia ORPHA:67048
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:603552
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Decreased methionine synthase activity, Jaundice, Megaloblastic anemia, Respiratory failure, Neut... OMIM:250940
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Snakebite Envenomation
Muscle fiber necrosis, Angioedema, Rhabdomyolysis, Thrombocytopenia, Ecchymosis, Respiratory fail... ORPHA:449285
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Weakness of facial musculature OMIM:618637
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Abnormal circulating enzyme concentration or activity, Hypertrophic car... ORPHA:70472
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Anemia, Increased mean corpuscular volume, Respiratory insufficiency, V... OMIM:617021
Erythroleukemia, Familial, Susceptibility To
Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia OMIM:133180
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Spinal muscular atrophy, Increased variability in muscle fiber diameter, Sk... OMIM:616867
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia, Cutaneous photosensitivity OMIM:615715
Transaldolase Deficiency
Anemia, Premature skin wrinkling, Thrombocytopenia, Hepatosplenomegaly, Atrial septal defect, Biv... ORPHA:101028
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro... OMIM:314050
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Intrauterine growth retardation, Respiratory failure, Ventriculomegaly... OMIM:615330
Pseudo-Torch Syndrome 2
Elevated circulating hepatic transaminase concentration, Respiratory insufficiency, Petechiae, Ac... OMIM:617397
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Cyanotic episode, Limb joint contracture, Lateral ventricle dilatation... ORPHA:284417
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Respiratory failure, Neonatal respiratory distress OMIM:619057
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Purpura, Anemia, Petechiae, Vasculitis in the skin, Splenomegaly, Respiratory failure OMIM:620296
Congenital Disorder Of Glycosylation, Type Iil
Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline phosphatas... OMIM:614576
Phosphoglycerate Dehydrogenase Deficiency
Reduced 3-phosphoglycerate dehydrogenase activity, Megaloblastic anemia, Thrombocytopenia OMIM:601815
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Elevated circulating hepatic transaminase concentration, Gliosis, Hyper... ORPHA:26791
Hereditary Methemoglobinemia
Cyanosis, Methemoglobinemia ORPHA:621
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Cyanosis, ... ORPHA:1209
Bleeding Disorder, Platelet-Type, 22
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:618462
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Petechiae, Thrombocytopenia, Leukopenia,... ORPHA:83313
Arthrogryposis Multiplex Congenita 6
Death in childhood, Nemaline bodies, Death in infancy, Increased variability in muscle fiber diam... OMIM:619334
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Respiratory insufficiency, Thrombocytopenia, Leukopenia, Respiratory failur... OMIM:613845
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Perimembranous ventricular septal defect, Anemia, Camptodactyly, Death ... OMIM:608104
Aicardi-Goutieres Syndrome 6
Intrauterine growth retardation, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Fetal Cytomegalovirus Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Petechiae, Thrombocyto... ORPHA:294
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto... ORPHA:3226
Primary Myelofibrosis
Purpura, Anemia, Pancytopenia, Petechiae, Extramedullary hematopoiesis, Leukocytosis, Portal hype... ORPHA:824
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Roch-Leri Mesosomatous Lipomatosis
Purpura, Thrombocytopenia ORPHA:529
Vitamin B12-Unresponsive Methylmalonic Acidemia
Anemia, Macrocytic anemia, Respiratory insufficiency, Cardiomyopathy, Thrombocytopenia, Leukopenia ORPHA:27
Gray Platelet Syndrome
Bruising susceptibility, Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Anemia, Hypochromic microcytic anemia, Limb hypertonia, Pancytopenia, Hydrocephalus, ... OMIM:259720
Non-Involuting Congenital Hemangioma
Thrombocytopenia, Telangiectasia of the skin, Subcutaneous calcification, Prominent superficial v... ORPHA:141179
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Congenital Multicore Myopathy With External Ophthalmoplegia
Internally nucleated skeletal muscle fibers, Muscular dystrophy, Tibialis anterior muscle atrophy... ORPHA:98905
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Atelis Syndrome 1
Anemia, Lumbar kyphosis, Thrombocytopenia, Leukopenia, Atrial septal defect, Ventricular septal d... OMIM:620184
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Neonatal death, Colpocephaly OMIM:614870
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Malaria
Thrombocytopenia, Anemia ORPHA:673
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia OMIM:615285
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:613642
Congenital Rubella Syndrome
Jaundice, Anemia, Thrombocytopenia, Splenomegaly, Intrauterine growth retardation, Atrial septal ... ORPHA:290
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Facial hypotonia, Respiratory insufficiency, ... ORPHA:308552
Osteopetrosis, Autosomal Recessive 4
Anemia, Petechiae, Facial palsy, Reticulocytosis, Thrombocytopenia, Splenomegaly, Sclerotic verte... OMIM:611490
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
Combined Oxidative Phosphorylation Deficiency 20
Respiratory insufficiency, Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Petechiae, B Acute Lymphoblastic Leukemia, Thrombocyto... OMIM:616216
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Pelger-Huet Anomaly
Giant platelets, Ventricular septal defect, Kyphosis, Hyposegmentation of neutrophil nuclei, Lowe... OMIM:169400
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Abnormal circulating creatine kinase concentration, Anemia, Death in childhood OMIM:615838
Wilson Disease
Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Acute hepatitis, Back ... ORPHA:905
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Respiratory failure, Thrombocytopenia, Hypochromic microcytic anemia, Gliosis ORPHA:3240
Aggressive Systemic Mastocytosis
Decreased liver function, Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Elevate... ORPHA:98850
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia, Telangiectasia of the skin, Subcutaneous calcification, Prominent superficial v... ORPHA:141184
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Abnormal circulating lactate dehydrogenase concentration, Anemia of inadequate production, Poikil... ORPHA:67044
Immunodeficiency 54
Respiratory insufficiency, Splenomegaly, Intrauterine growth retardation, Respiratory failure, Re... OMIM:609981
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia, Atrial septal def... OMIM:249270
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Camptodactyly, Shor... OMIM:618804
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Thrombocytopenia, Monocytosis, Anemia, Neutropenia OMIM:620534
Pneumocystosis
Respiratory failure requiring assisted ventilation, Abnormal neutrophil count, Respiratory insuff... ORPHA:723
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Niemann-Pick Disease, Type C2
Sea-blue histiocytosis, Jaundice, Death in childhood, Respiratory insufficiency, Bone-marrow foam... OMIM:607625
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Reticulocytosis, Pericardial effusion, H... ORPHA:846
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal aortic valve morphology, Hypertrophic cardiomyopathy, Death in infancy, Camptodactyly of... ORPHA:1194
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly OMIM:610539
Cholesteryl Ester Storage Disease
Anemia, Bone-marrow foam cells, Portal hypertension, Reduced lysosomal acid lipase activity, Incr... OMIM:278000
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure, Cyanosis, Cor pulmonale OMIM:263000
Sengers Syndrome
Respiratory insufficiency, Thrombocytopenia, Myopathy, Hypertrophic cardiomyopathy OMIM:212350
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure, Ventriculomegaly, Agenesis of corpus callosum OMIM:312170
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating hepatic transaminase concentration, Ventriculomegaly, Respiratory insufficie... OMIM:608836
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased circulating hemoglobin concentration, Splenomegaly, Plet... OMIM:133100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... OMIM:619041
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Stillbirth, Death in childhood, Cardiomyopathy, Death in infancy, Neona... OMIM:614922
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Left ventricular noncompaction, Dilated cardiomyopathy, Left ventricular hy... OMIM:601493
Fetal Gaucher Disease
Stillbirth, Pancytopenia, Death in infancy, Neonatal death, Thrombocytopenia, Abnormality of the ... ORPHA:85212
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Thrombocytopenia, Abnormal circulating lactate dehydrogenase c... ORPHA:54057
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Death in childhood, Respiratory insufficiency, Ventricular hypertrophy,... OMIM:618278
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tricuspid valve prolapse, Cyanosis, Abnormal ... ORPHA:555874
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Death in childhood, Anemia, Hypertrophic cardiomyopathy, Respiratory in... OMIM:220110
Hereditary Motor And Sensory Neuropathy, Type Iic
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotr... OMIM:606071
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Osteopetrosis, Autosomal Recessive 1
Anemia, Pancytopenia, Sandwich appearance of vertebral bodies, Hydrocephalus, Facial palsy, Incre... OMIM:259700
Giant platelet syndrome with thrombocytopenia
Bruising susceptibility, Thrombocytopenia, Giant platelets OMIM:137560
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Transaldolase Deficiency
Decreased liver function, Anemia, Pancytopenia, Patent foramen ovale, Hepatosplenomegaly, Splenom... OMIM:606003
Neuropathy, Congenital Hypomyelinating, 3
Hypomimic face, Respiratory insufficiency, Facial diplegia, Neonatal death, Limb joint contractur... OMIM:618186
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Facial palsy, Thrombocytopenia OMIM:616435
Mitochondrial Complex I Deficiency, Nuclear Type 20
Death in childhood, Elevated circulating hepatic transaminase concentration, Hypertrophic cardiom... OMIM:611126
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Ventilator dependence with inability to wean, Distal amyotrophy, Spinal muscular atrophy, Limb mu... OMIM:604320
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia OMIM:124900
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Increased circul... OMIM:613839
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Increa... OMIM:185070
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Ventriculomegaly, Hydrocephalus, Abn... ORPHA:244
Moyamoya Disease With Early-Onset Achalasia
Cutis marmorata, Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Hb Bart'S Hydrops Fetalis
Anemia, Hydrocephalus, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran... ORPHA:158057
Hypotonia, Infantile, With Psychomotor Retardation
Increased variability in muscle fiber diameter, Respiratory insufficiency due to muscle weakness,... OMIM:616816
Thrombocytopenia 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:620478
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Elevated circulating hepatic transaminase concentration, Pancytop... OMIM:260400
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating hepatic transaminase concentration, Respiratory insufficiency, Elevated circ... OMIM:609015
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Bruising susceptibility, Thrombocytopenia OMIM:613554
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ventricular hypertrophy, Respira... ORPHA:444013
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Megaloblastic anemia, Ventricular septal defect, Thrombocytopenia ORPHA:49827
Acute Interstitial Pneumonia
Reduced hematocrit, Pericardial effusion, Hypoxemia, Respiratory failure, Cyanosis ORPHA:79126
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl... OMIM:173590
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Griscelli Syndrome
Premature graying of hair, Jaundice, Encephalocele, Hydrocephalus, Thrombocytopenia, Leukopenia, ... ORPHA:381
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Fl... OMIM:252011
Fanconi Anemia, Complementation Group B
Aplastic anemia, Abnormal vertebral morphology, Hydrocephalus, Death in infancy, Thrombocytopenia... OMIM:300514
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Portal Hypertension, Noncirrhotic, 2
Elevated circulating hepatic transaminase concentration, Petechiae, Portal hypertension, Thromboc... OMIM:619463
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Scoliosis, Distal amyotrophy, Flexion contracture, Respiratory failure, Cerebellar gliosis OMIM:616505
Pseudo-Torch Syndrome 1
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Pete... OMIM:251290
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Hypertrophic cardiomyopathy, Death in infancy, Respiratory failure, Di... OMIM:614299
Alg8-Cdg
Elevated circulating hepatic transaminase concentration, Anemia, Premature skin wrinkling, Campto... ORPHA:79325
Congenital Pulmonary Lymphangiectasia
Pulmonic stenosis, Cyanosis, Splenomegaly, Chylopericardium ORPHA:2414
Bernard-Soulier Syndrome
Purpura, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Impaired ristocetin-induced pl... OMIM:231200
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Hypoxemia, Thrombocytopenia, Subcutaneous hemorrhage... ORPHA:238459
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Butterfly vertebrae, Elevated circulating hepatic transaminase concentration, Elevated circulatin... OMIM:301056
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... OMIM:617228
Fibrodysplasia Ossificans Progressiva
Elevated circulating alkaline phosphatase concentration, Respiratory insufficiency, Scoliosis, Sm... OMIM:135100
Proximal Spinal Muscular Atrophy
Atrial septal defect, Distal lower limb muscle weakness, Multiple joint contractures, Weakness of... ORPHA:70
Acquired Methemoglobinemia
Hypoxemia, Cyanosis, Methemoglobinemia ORPHA:464453
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory failure, Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinas... OMIM:620166
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Patent f... OMIM:208085
2,4-Dienoyl-Coa Reductase Deficiency
Death in childhood, Hydrocephalus, Death in infancy, Colpocephaly, Reduced muscle 2,4-dienoyl-CoA... OMIM:616034
Specific Granule Deficiency 2
Death in childhood, Anemia, Death in infancy, Thrombocytopenia, Absent neutrophil specific granul... OMIM:617475
Leigh Syndrome
Decreased circulating biotinidase concentration, Anemia, Multiple joint contractures, Abnormal ci... ORPHA:506
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated circulating hepatic transaminase concentration, Portal hypertension, Thrombocytopenia, H... ORPHA:210136
Thyrocerebrorenal Syndrome
Abnormality of the musculature of the limbs, Thrombocytopenia ORPHA:3327
Immunodeficiency 91 And Hyperinflammation
Death in childhood, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, De... OMIM:619644
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Abnormal heart morphology, Colpocephaly ORPHA:2185
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating hepatic transaminase concentration, Respiratory insufficiency, Cardiomyopath... ORPHA:159
Congenital Enterovirus Infection
Myocarditis, Anemia, Abnormal macrophage morphology, Cardiomyopathy, Leukocytosis, Hepatic failur... ORPHA:292
Asbestos Intoxication
Hypoxemia, Myocardial fibrosis, Respiratory failure, Cyanosis, Cor pulmonale, Oxygen desaturation... ORPHA:2302
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebellar gliosis, Gliosis, Basal ganglia gliosis, Flexion contracture, Agenesis of corpus callo... ORPHA:79243
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Pontocerebellar Hypoplasia, Type 1A
Respiratory insufficiency, Distal amyotrophy, Spinal muscular atrophy, Congenital contracture, Ba... OMIM:607596
Braddock-Carey Syndrome 1
Hyperlordosis, Camptodactyly, Thrombocytopenia, Agenesis of corpus callosum, Ventricular septal d... OMIM:619980
Cog4-Cdg
Elevated circulating hepatic transaminase concentration, Limb hypertonia, Thrombocytopenia, Hepat... ORPHA:263501
Peripartum Cardiomyopathy
Left atrial enlargement, Myocarditis, Anemia, Abnormal atrioventricular valve morphology, Left ve... ORPHA:563
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Drug-Induced Lupus Erythematosus
Anemia, Petechiae, Elevated circulating creatine kinase concentration, Pericardial effusion, Peri... ORPHA:231111
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Systemic Lupus Erythematosus 17
Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia OMIM:301080
Systemic Lupus Erythematosus
Cutaneous photosensitivity, Pericarditis, Thrombocytopenia, Leukopenia, Hemolytic anemia OMIM:152700
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Respiratory insufficiency, Myositis, Scoliosis, Hyperlordosis, Cardiomyopathy... ORPHA:258
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Death in childhood, Torticollis, Respiratory failure, Ventriculomegaly, Myel... OMIM:617186
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Anemia, Cardiomyopathy, Elevated circulating creatine kinase concentrat... OMIM:618839
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Butterfly vertebrae, Giant platelets, Anemia, Vertebral segmentation defect, Camp... OMIM:611209
Congenital Fibrinogen Deficiency
Cyanosis, Splenic rupture, Right ventricular hypertrophy, Left ventricular hypertrophy, Bruising ... ORPHA:335
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Limb hypertonia, Cardiomyopathy, Generalized amyotrophy, Thrombocytopenia, Skeletal muscle atroph... OMIM:617710
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Anemia, Elevated circulating creatine kinase concentration, Hypertrophi... OMIM:618835
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Elev... ORPHA:88618
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, EMG: myopathic abnormalities, Hypertroph... ORPHA:99901
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure, Myopathy ORPHA:363400
Gaucher Disease, Type Iii
Decreased beta-glucocerebrosidase level, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Leishmaniasis
Anemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Abnormal macrophag... ORPHA:507
Combined Oxidative Phosphorylation Deficiency 14
Death in childhood, Anemia, Gliosis, Death in infancy, Basal ganglia gliosis, Thrombocytopenia, V... OMIM:614946
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615373
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Cyanosis, Ventricular septal defect, Anomalous pulmonary ... ORPHA:860
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Gliosis, Death in childhood, Lateral ventricle dilatation OMIM:619847
Tufted Angioma
Petechiae, Thrombocytopenia, Anemia, Purpura ORPHA:1063
Propionic Acidemia
Anemia, Limb hypertonia, Pancytopenia, Cardiomyopathy, Propionyl-CoA carboxylase deficiency, Thro... OMIM:606054
Pseudo-Torch Syndrome 3
Anemia, Respiratory insufficiency, Leukocytosis, Death in infancy, Cardiomegaly, Congenital throm... OMIM:618886
Primary Pulmonary Hypoplasia
Abnormal hemidiaphragm morphology, Dextrocardia, Hypoxemia, Secundum atrial septal defect, Intrau... ORPHA:2257
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Respiratory failure, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Leigh Syndrome
Respiratory insufficiency, Respiratory failure, Gliosis OMIM:256000
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Hsd10 Disease, Infantile Type
Cardiomegaly, Cyanosis, Hypertrophic cardiomyopathy, Abnormal circulating enzyme concentration or... ORPHA:391428
Joubert Syndrome 15
Exencephaly OMIM:614464
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis, Hypertrophic cardiomyopathy OMIM:610773
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Pontocerebellar Hypoplasia Type 1
Respiratory failure, Arthrogryposis multiplex congenita, Skeletal muscle atrophy ORPHA:2254
Relapsing Fever
Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Leukocytosis, Increase... ORPHA:91547
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly OMIM:613101
Osteopetrosis, Autosomal Recessive 2
Anemia, Pancytopenia, Hydrocephalus, Persistence of primary teeth, Thrombocytopenia, Hepatospleno... OMIM:259710
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Urticaria, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count OMIM:616050
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Aicardi-Goutieres Syndrome 1
Purpura, Elevated circulating hepatic transaminase concentration, Petechiae, Cardiomyopathy, Prol... OMIM:225750
Congenital Heart Block
Patent foramen ovale, Pericardial effusion, Intrauterine growth retardation, Cyanosis, Endocardia... ORPHA:60041
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Pericardial effusion, Decrea... OMIM:613011
Heterotaxy, Visceral, 1, X-Linked
Myelomeningocele, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly, Right atrial isomerism,... OMIM:306955
Congenital Myasthenic Syndrome
Kyphoscoliosis, Spinal rigidity, Distal lower limb muscle weakness, Cyanosis, Frontalis muscle we... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Kyphoscoliosis, Spinal rigidity, Distal lower limb muscle weakness, Cyanosis, Frontalis muscle we... ORPHA:98914
Rhabdoid Tumor
Respiratory insufficiency, Thrombocytopenia, Anemia ORPHA:69077
Combined Oxidative Phosphorylation Deficiency 3
Death in childhood, Concentric hypertrophic cardiomyopathy, Ventriculomegaly, Respiratory insuffi... OMIM:610505
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Fulminant hepatitis, Abnormal T c... OMIM:308240
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Elevated circulating hepatic transaminase concentration, Cardio... ORPHA:445038
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Hydrocephalus, Kyphosis, Neonatal death, Platyspondyly, Respiratory failure, Palmoplantar cutis l... OMIM:616482
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Moyamoya Disease 6 With Or Without Achalasia
Cutis marmorata, Thrombocytopenia, Livedo reticularis OMIM:615750
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Intrauterine growth retardation, Abnormal lateral ventricle morphology ORPHA:488635
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Scoliosis, Elbow flexion contracture, Thenar muscle atrophy, Contracture of the proximal interpha... OMIM:612394
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Ventriculomegaly, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-posit... OMIM:304790
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Iron deficiency anemia, Petechiae, Neutropenia in presence of anti-n... OMIM:603909
Osteopetrosis, Autosomal Recessive 8
Facial palsy, Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Myh9-Related Disease
Neutrophil inclusion bodies, Elevated circulating hepatic transaminase concentration, Giant plate... ORPHA:182050
Lethal Congenital Contracture Syndrome 2
Ventricular septal defect, Skeletal muscle atrophy, Respiratory failure, Dilated cardiomyopathy, ... OMIM:607598
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem... OMIM:612561
Hemiparkinsonism-Hemiatrophy Syndrome
Scoliosis, Lateral ventricle dilatation, Neonatal asphyxia ORPHA:306669
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Scoliosis, Kyphosis, Thrombocytopenia, Colpocephaly, Ventricul... ORPHA:261250
Acquired Purpura Fulminans
Macular purpura, Thrombocytopenia, Acrocyanosis, Hepatic failure ORPHA:49566
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Muscular dystrophy, Hydrocephalus, Elevated circulating creatine kinase concentration, Increased ... OMIM:616538
Sepsis In Premature Infants
Decreased liver function, Purpura, Jaundice, Anemia, Petechiae, Leukocytosis, Thrombocytopenia, S... ORPHA:90051
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Decreased methionine synthase activity, Normochromic anemia, Thrombocytopenia, Atrial septal defe... OMIM:614857
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Prolidase Deficiency
Diffuse telangiectasia, Anemia, Petechiae, Prolonged neonatal jaundice, Thrombocytopenia, Splenom... OMIM:170100
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Normochromic anemia, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopa... OMIM:618775
Tempi Syndrome
Facial erythema, Hypoxemia, Polycythemia, Increased hematocrit, Telangiectasia ORPHA:284227
Glutamine Deficiency, Congenital
Subependymal cysts, Camptodactyly, Neonatal death, Flexion contracture, Lateral ventricle dilatat... OMIM:610015
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Leukopenia OMIM:618116
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Flexion contracture OMIM:612952
Macrophage Activation Syndrome
Decreased liver function, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Elevated ... ORPHA:158061
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Death in infancy, Neonatal death, Facial paralysis, Respiratory failure OMIM:605711
Erythrocytosis, Familial, 2
Plethora, Increased circulating hemoglobin concentration, Increased red blood cell mass, Increase... OMIM:263400
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Death in childhood, Abnormality of skeletal muscle fiber size, Weakness of facial musculature, Ne... OMIM:620278
Wars2-Related Combined Oxidative Phosphorylation Defect
Limb hypertonia, Abnormal circulating enzyme concentration or activity, Cardiomyopathy, Dilated f... ORPHA:572798
Congenital Disorder Of Glycosylation, Type Ix
Intrauterine growth retardation, Death in childhood, Thrombocytopenia OMIM:615597
Criss-Cross Heart
Transposition of the great arteries, Cyanosis, Respiratory insufficiency, Tricuspid stenosis, Pul... ORPHA:1461
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Anemia, Leukocytosis, Hypoxemia, Thrombocytop... ORPHA:90060
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Methemoglobinemia OMIM:250790
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Congenital Fiber-Type Disproportion Myopathy
Kyphoscoliosis, Hyperlordosis, Hypoxemia, Respiratory insufficiency due to muscle weakness, Abnor... ORPHA:2020
Gaucher Disease, Perinatal Lethal
Purpura, Anemia, Petechiae, Neonatal death, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, C... OMIM:608013
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Facial hypotonia, Respiratory insufficiency, Abn... ORPHA:365
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis, Leukocytosis ORPHA:330012
Beemer-Ertbruggen Syndrome
Respiratory insufficiency, Thrombocytopenia, Communicating hydrocephalus ORPHA:1237
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Anemia of inadequate production, Poikilocytosis, Bruising susceptibility, Acanthocytos... OMIM:300367
Isolated Agammaglobulinemia
Thrombocytopenia, Abnormality of neutrophils, Abnormal lymphocyte morphology, Anemia ORPHA:229717
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Petechiae, Absence of alpha granules, Impaired... OMIM:187900
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Subcutaneous hemorrh... OMIM:603585
Pontocerebellar Hypoplasia, Type 12
Joint contracture, Lateral ventricle dilatation, Death in infancy OMIM:618266
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Hypoxemia, Neutrophilia, Leukopenia, Respiratory failure ORPHA:36238
Isovaleric Acidemia
Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts, Thrombocytopenia, Leukopen... OMIM:243500
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Hemivertebrae, Abnormal form of the vertebral bodies ORPHA:2759
Severe Congenital Nemaline Myopathy
Abnormality of the diaphragm, Facial diplegia, Facial palsy, Nemaline bodies, Arthrogryposis mult... ORPHA:171430
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Anemia, Excessive wrinkled skin, Abnormal leukocyte morphology, Thromb... ORPHA:3322
Sickle Cell Anemia
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Increased mean corpuscular volume, Le... ORPHA:232
Cryptogenic Organizing Pneumonia
Hypoxemia, Neutrophilia, Leukocytosis, Cyanosis ORPHA:1302
Necrotizing Enterocolitis
Leukocytosis, Abnormal heart morphology, Thrombocytopenia, Cyanosis, Neutropenia ORPHA:391673
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Purpura, Jaundice, Anemia, Hemophagocytosis, Elevated circulating hepat... ORPHA:540
Thyrocerebroretinal Syndrome
Thrombocytopenia, Skeletal muscle atrophy OMIM:274240
Eosinophilic Fasciitis
Myositis, Abnormal eosinophil morphology, Muscular edema, Acrocyanosis, Eosinophilia ORPHA:3165
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet v... OMIM:153670
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Diamond-Blackfan Anemia 1
Congenital hypoplastic anemia, Hypoplastic coccygeal vertebrae, Elevated red cell adenosine deami... OMIM:105650
Gaucher Disease, Type I
Anemia, Vertebral compression fracture, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Sp... OMIM:230800
Band Heterotopia
Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation OMIM:600348
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Cardiomyopathy, Chronic hepatic failure, Skeletal myopathy, Rhabdomyol... ORPHA:746
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Flexion contracture, Bruising susceptibility, Short neck, Microcytic anemia ORPHA:98791
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia ORPHA:2123
Von Willebrand Disease
Muscle hemorrhage, Petechiae, Abnormal platelet function, Abnormal mitral valve morphology, Throm... ORPHA:903
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... OMIM:210250
Immunodeficiency 114, Folate-Responsive
Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:620603
Multiple Mitochondrial Dysfunctions Syndrome 7
Respiratory failure requiring assisted ventilation, Decreased liver function, Partial atrioventri... OMIM:620423
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Mevalonic Aciduria
Kyphoscoliosis, Fluctuating splenomegaly, Anemia, Elevated circulating hepatic transaminase conce... OMIM:610377
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal death, Respiratory failure, Neonatal respiratory distress, Cyanosis OMIM:265120
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Respiratory insufficiency, Lateral ventricle dilatation, Death in infancy OMIM:617668
Ciliary Dyskinesia, Primary, 5
Situs inversus totalis, Respiratory failure, Neonatal respiratory distress, Respiratory insuffici... OMIM:608647
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Pancytopenia, Thoracic kyphosis, Ovoid vertebral bodies, Thro... OMIM:242900
Infant Acute Respiratory Distress Syndrome
Respiratory failure, Hypoxemia, Cyanosis ORPHA:70587
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Fragile skin, Camptodactyly of toe, Natal tooth, Cardiomegaly, Respiratory failur... ORPHA:158687
Noonan Syndrome 4
Scoliosis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Thrombocytopenia, Bruising susceptibil... OMIM:610733
Holoprosencephaly 5
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... OMIM:609637
Combined Oxidative Phosphorylation Deficiency 4
Intrauterine growth retardation, Respiratory failure, Death in infancy OMIM:610678
Adams-Oliver Syndrome
Encephalocele, Hydrocephalus, Portal hypertension, Cutis marmorata, Thrombocytopenia, Leukopenia,... ORPHA:974
Overlap Myositis
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Elevated circulating ... ORPHA:206572
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Patent foramen ovale, Colpocephaly, Agenesis of corpus callosum, Intrau... OMIM:609053
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Smith-Kingsmore Syndrome
Diastasis recti, Ventriculomegaly, Thrombocytopenia, Umbilical hernia OMIM:616638
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... OMIM:226990
Mitochondrial Complex I Deficiency, Nuclear Type 1
Concentric hypertrophic cardiomyopathy, Respiratory insufficiency, Ragged-red muscle fibers, Hype... OMIM:252010
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Elliptocytosis, Anisocytosis, T... OMIM:300835
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Elevated circulating hepatic transaminase concentration, Respiratory in... OMIM:618329
Hepatoportal Sclerosis
Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Portal hypertension, T... ORPHA:64743
Amed Syndrome, Digenic
Anemia, Thrombocytopenia, Leukopenia, Acute myeloid leukemia OMIM:619151
Spinocerebellar Ataxia Type 1
Respiratory failure, Skeletal muscle atrophy, Abnormality of masticatory muscle ORPHA:98755
Poems Syndrome
Pericardial effusion, Polycythemia, Respiratory insufficiency due to muscle weakness, Splenomegal... ORPHA:2905
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Scoliosis, Thrombocytopenia OMIM:616577
Mirage Syndrome
Anemia, Hydrocephalus, Petechiae, Scoliosis, Hypoplastic spleen, Leukopenia, Thrombocytopenia, Ly... OMIM:617053
Pediatric-Onset Graves Disease
Jaundice, Elevated circulating hepatic transaminase concentration, Neutropenia in presence of ant... ORPHA:525731
Maternal Uniparental Disomy Of Chromosome 6
Intrauterine growth retardation, Ventriculomegaly, Miscarriage, Thrombocytopenia ORPHA:96181
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Trichothiodystrophy 6, Nonphotosensitive
Cutaneous photosensitivity, Mild intrauterine growth retardation, Increased HbA2 hemoglobin, Decr... OMIM:616943
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:620481
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Kaposiform Lymphangiomatosis
Anemia, Abnormal form of the vertebral bodies, Abnormal sacrum morphology, Abnormal spleen morpho... ORPHA:464329
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Ecchymosis, Neutropenia ORPHA:88
Zika Virus Disease
Intrauterine growth retardation, Miscarriage, Subcutaneous hemorrhage, Thrombocytopenia ORPHA:448237
Meckel Syndrome 14
Occipital encephalocele, Holoprosencephaly, Cardiorespiratory arrest, Short neck, Cyanosis, Singl... OMIM:619879
Gaucher Disease Type 1
Anemia, Vertebral compression fracture, Pancytopenia, Splenic infarction, Portal hypertension, Sp... ORPHA:77259
Catastrophic Antiphospholipid Syndrome
Myocarditis, Abnormal heart valve morphology, Miscarriage, Cutis marmorata, Thrombocytopenia, Coo... ORPHA:464343
Acute Promyelocytic Leukemia
Purpura, Anemia, Pancytopenia, Petechiae, Leukocytosis, Leukopenia, Thrombocytopenia, Ecchymosis,... ORPHA:520
Autosomal Recessive Spastic Paraplegia Type 66
Lower limb amyotrophy, Colpocephaly, Limb hypertonia ORPHA:401815
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Immune Thrombocytopenia
Petechiae, Bruising susceptibility, Purpura, Thrombocytopenia ORPHA:3002
Fanconi Anemia, Complementation Group C
Anemia, Pancytopenia, Reticulocytopenia, Anterior wedging of T12, Thrombocytopenia, Flexion contr... OMIM:227645
Dominant Beta-Thalassemia
Jaundice, Hypochromic microcytic anemia, Hypoplasia of the musculature, Decreased mean corpuscula... ORPHA:231226
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Muscular dystrophy, Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Elevated c... OMIM:613154
Dengue Fever
Petechiae, Thrombocytopenia, Leukopenia, Cardiorespiratory arrest, Bruising susceptibility ORPHA:99828
Mucopolysaccharidosis-Plus Syndrome
Death in childhood, Anemia, Hypertrophic cardiomyopathy, Leukopenia, Splenomegaly, Thrombocytopen... OMIM:617303
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Abnormal natural kille... ORPHA:79124
Intellectual Developmental Disorder, Autosomal Dominant 48
Scoliosis, Dilated fourth ventricle, Lateral ventricle dilatation, Umbilical hernia, Bicuspid aor... OMIM:617751
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Overriding aorta, Atrial s... ORPHA:3304
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Abnormal lateral ventricle morphology, Pancytopenia, Delayed eruptio... ORPHA:1855
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Premature graying of hair, Increased mean corpuscular volume, Portal hypertension, Thrombocytopen... OMIM:620367
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb amyotrophy, Respiratory failure, Gliosis, Abnormal morphology of musculature of pharynx ORPHA:280210
Tetrasomy 5P
Hydrocephalus, Short neck, Cyanosis, Aplasia/Hypoplasia of the abdominal wall musculature ORPHA:3309
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Purpura, Respiratory insufficiency, Myositis, Hypertrophic cardiomyopathy, Abnormal ... ORPHA:183
Chediak-Higashi Syndrome
Jaundice, Anemia, Hemophagocytosis, Leukopenia, Splenomegaly, Impaired neutrophil bactericidal ac... OMIM:214500
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Acute leukemia, Rhabdomyosarcoma, Cutaneous photosensitivity, Respir... ORPHA:647
Recon Progeroid Syndrome
Progeroid facial appearance, Anemia, Cutaneous photosensitivity, Thrombocytopenia, Skeletal muscl... OMIM:620370
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Elevated circulating creatine kinase concentration, Colpocephaly, Age... OMIM:619955
Sea-Blue Histiocytosis
Petechiae, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly ORPHA:158029
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Anemia, Erythroid hypoplasia, Respiratory insufficiency, Hypoplasia of the thymus, Pulmonic steno... OMIM:612541
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Death in infancy, Respiratory arrest, Neonatal death, Respiratory failure, Ventriculome... OMIM:617248
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Cervical platyspondyly, Scoliosis, Colpocephaly OMIM:618731
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Hypoxemia, Ca... ORPHA:439
Stt3B-Cdg
Intrauterine growth retardation, Thrombocytopenia ORPHA:370924
Combined Oxidative Phosphorylation Deficiency 55
Anemia, Type 2 muscle fiber predominance, Elevated circulating creatine kinase concentration, Thr... OMIM:619743
Abetalipoproteinemia
Kyphoscoliosis, Distal lower limb muscle weakness, Anemia, Elevated circulating hepatic transamin... ORPHA:14
Hellp Syndrome
Elevated circulating hepatic transaminase concentration, Decreased mean corpuscular hemoglobin co... ORPHA:244242
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Cyanosis, Truncus arteriosus, Death in infancy, Tetralogy of Fallot, Partial a... OMIM:617478
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Dandy-Walker malformation, Scoliosis, Agenesis of corpus callosum, Lateral ... OMIM:618736
Farber Disease
Anemia, Elevated circulating hepatic transaminase concentration, Abnormal circulating enzyme conc... ORPHA:333
Wolfram Syndrome 1
Sideroblastic anemia, Megaloblastic anemia, Cardiomyopathy, Thrombocytopenia OMIM:222300
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Cyanosis, Lateral ventricle dilatation ORPHA:488627
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Decreased methionine synthase activity, Anemia, Dextrocardia, Pancytopenia, Megaloblastic anemia,... OMIM:277380
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Purpura, Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, P... OMIM:601399
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Persistence of primary teeth, Umbilical hernia, Atrial septal defect... OMIM:619769
Schimke Immuno-Osseous Dysplasia
Anemia, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Ovoi... ORPHA:1830
Thrombocytopenia 2
Abnormal platelet shape, Leukocytosis, Thrombocytopenia, Bruising susceptibility, Abnormal platel... OMIM:188000
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Limb hypertonia, Patent foramen ovale, Limb joint contracture, Intrauterine growth retardation, R... OMIM:620327
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Scoliosis, Gliosis, Lower limb hypertonia, Generalized amyotrophy, Thr... OMIM:301072
Tularemia
Thrombocytopenia, Anemia, Leukocytosis ORPHA:3392
Congenital Syphilis
Myocarditis, Large placenta, Purpura, Anemia, Hydrocephalus, Petechiae, Prolonged neonatal jaundi... ORPHA:499009
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia OMIM:620365
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Scoliosis, Elevated circulating creatine kina... ORPHA:496641
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Methylmalonic Aciduria, Cblb Type
Decreased methylmalonyl-CoA mutase activity, Anemia, Pancytopenia, Thrombocytopenia, Dilated card... OMIM:251110
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Elevated circulating alanine aminotransferase concentration, Cyanosis, Reduced phosphoenolpyruvat... OMIM:261680
Glycine Encephalopathy With Normal Serum Glycine
Elbow flexion contracture, Hip contracture, Flexion contracture, Respiratory failure, Ventriculom... OMIM:617301
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:616501
Letterer-Siwe Disease
Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect, Lateral ventricle dilatation OMIM:618330
Preeclampsia
Intrauterine growth retardation, Elevated circulating hepatic transaminase concentration, Thrombo... ORPHA:275555
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus ORPHA:1861
Lathosterolosis
Anisopoikilocytosis, Intrahepatic cholestasis, Meningocele, Abnormal thoracic spine morphology, T... ORPHA:46059
Beta-Thalassemia Major
Anisopoikilocytosis, Jaundice, Hypochromic microcytic anemia, Hypoplasia of the musculature, Decr... ORPHA:231214
Beta-Thalassemia Intermedia
Decreased liver function, Jaundice, Anemia of inadequate production, Leukocytosis, Persistence of... ORPHA:231222
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure, Situs inversus totalis OMIM:602088
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Gliosis, Elbow flexion contracture, Death in infancy, Short neck, Hip contracture, Flexion contra... OMIM:300868
Diamond-Blackfan Anemia
Abnormality of the thenar eminence, Elevated red cell adenosine deaminase activity, Acute myeloid... ORPHA:124
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Reticulocytosis, Prolonged neonatal jaundice, Thrombocytopenia, Microangiopathic hemoly... OMIM:274150
Adult Acute Respiratory Distress Syndrome
Respiratory failure, Hypoxemia, Abnormal blood gas level ORPHA:70578
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Ventricular septal defect OMIM:617895
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Pulmonary Arteriovenous Malformation
Iron deficiency anemia, Bacterial endocarditis, Hypoxemia, Cyanosis, Telangiectasia ORPHA:2038
Myasthenia Gravis
Myositis, Pure red cell aplasia, Acrocyanosis, Hepatitis, Hemolytic anemia ORPHA:589
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar kyphosis, Anemia, Hydrocephalus, Patent foramen ovale, Thoracic kyphosis, Hypertrophic car... ORPHA:505248
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Hypoxemia, Neonatal death, Respiratory failure, Neonatal respiratory distress, ... OMIM:610921
Arterial Tortuosity Syndrome
Myocarditis, Prematurely aged appearance, Scoliosis, Hypertrophic cardiomyopathy, Cardiorespirato... ORPHA:3342
Atrial Standstill
Muscular dystrophy, Cardiomyopathy, Abnormal heart morphology, Flexion contracture, Skeletal musc... ORPHA:1344
Aicardi-Goutieres Syndrome 9
Anemia, Elevated circulating hepatic transaminase concentration, Scoliosis, Portal hypertension, ... OMIM:619487
Shwachman-Diamond Syndrome
Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Vertebral compression fractur... ORPHA:811
X-Linked Agammaglobulinemia
Thrombocytopenia, Anemia, Hepatitis, Neutropenia ORPHA:47
Amyotrophic Lateral Sclerosis
Progressive spinal muscular atrophy, Progressive distal muscular atrophy, Upper limb muscle weakn... ORPHA:803
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Large placenta, Diastasis recti, Wrist flexion contracture, Camptodactyly, Flexion contracture of... ORPHA:254528
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Car T Cell Therapy-Associated Cytokine Release Syndrome
Respiratory failure, Hypoxemia, Elevated circulating hepatic transaminase concentration ORPHA:542323
Alg2-Cdg
Lateral ventricle dilatation, Abnormal circulating enzyme concentration or activity ORPHA:79326
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Premature graying of hair, Pancytopenia, Thrombocytopenia, Leukopenia, Dilated c... OMIM:613989
Pearson Marrow-Pancreas Syndrome
Death in childhood, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic transam... OMIM:557000
Listeriosis
Myocarditis, Jaundice, Splenic abscess, Miscarriage, Back pain, Pericarditis, Rhabdomyolysis, Res... ORPHA:533
Hemophagocytic Lymphohistiocytosis, Familial, 2
Jaundice, Anemia, Hemophagocytosis, Elevated circulating hepatic transaminase concentration, Panc... OMIM:603553
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Martsolf Syndrome 2
Camptodactyly of finger, Camptodactyly, Lateral ventricle dilatation OMIM:619420
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Craniosynostosis 6
Spina bifida occulta, Dandy-Walker malformation, Scoliosis, Agenesis of corpus callosum, Lateral ... OMIM:616602
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Colpocephaly, Agenesis of corpus callosum, Left ventri... OMIM:618619
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Neonatal death, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ... OMIM:619167
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Abnormal na... ORPHA:331206
Double Outlet Right Ventricle
Cyanosis, Truncus arteriosus, Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventric... ORPHA:3426
Pediatric Systemic Lupus Erythematosus
Myositis, Lymphopenia, Increased circulating lactate dehydrogenase concentration, Pericardial eff... ORPHA:93552
Ziegler-Huang Syndrome
Intrauterine growth retardation, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Dubowitz Syndrome
Sacral dimple, Anemia, Spina bifida occulta, Cutaneous photosensitivity, Hydrocephalus, Respirato... ORPHA:235
Chédiak-Higashi Syndrome
Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast ... ORPHA:167
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Skeletal muscle atrophy, Eosinophilia ORPHA:90045
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Umbilical hernia, Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Tafro Syndrome
Anemia, Leukocytosis, Increased circulating lactate dehydrogenase concentration, Thrombocytopenia... ORPHA:457077
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Scoliosis, Colpocephaly, Distal arthrogryposis, Intrauterine growth retardation, V... OMIM:619833
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, Delayed eruption of teeth, B lymphocytopenia, Noncompaction cardiomyopathy, Reticulocytop... ORPHA:508542
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Kyphoscoliosis, Patent foramen ovale, Hyposegmentation of neutrophil nuclei, Lateral ventricle di... OMIM:620075
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Fanconi Anemia, Complementation Group E
Anemia, Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Thrombocytopenia, Bruising su... OMIM:600901
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Elevated circulating hepatic transaminase concentration, Myositis, Thrombocytopenia, Sple... OMIM:617591
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Death in childhood, Scoliosis, Kyphosis, Decreased hemoglobin concentration, Thrombocytopenia, In... OMIM:619005
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abnormal CD4:CD8 ratio, Neutropenia OMIM:150550
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Atrial septal defect, Atrioventricular canal defect, Jaundice, Eleva... OMIM:619573
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomega... ORPHA:100026
Fucosidosis
Anterior beaking of lumbar vertebrae, Vascular skin abnormality, Kyphosis, Decreased muscle mass,... ORPHA:349
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Thrombocytopenia, Increased CD4:CD8 ratio, B lymphocytopenia OMIM:618048
Acute Lung Injury
Respiratory failure, Hypoxemia ORPHA:178320
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Hydrocephalus, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardi... OMIM:261740
Felty Syndrome
Anemia, Abnormal lymphocyte morphology, Pericarditis, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:47612
Infantile Krabbe Disease
Respiratory failure, Shoulder girdle muscle weakness, Abnormal circulating enzyme concentration o... ORPHA:206436
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Anemia, Pancytopenia, Ventricular hypertrophy, Umbilical hernia, Pulmonic stenosis, Thrombocytope... OMIM:620654
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Quebec Platelet Disorder
Bruising susceptibility, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Down Syndrome
Atrioventricular canal defect, Prematurely aged appearance, Umbilical hernia, Acute megakaryocyti... ORPHA:870
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Purpura, Amegakaryocytic thrombocytopenia, Petechiae, Congenital thrombocytopenia OMIM:605432
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Elevated circulating hepatic transaminase concentration, Accessory spleen, Respiratory in... OMIM:620005
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Thrombocytopenia, Leukopenia, Neutropenia OMIM:251000
Brain-Lung-Thyroid Syndrome
Atrial septal defect, Patent foramen ovale, Agenesis of corpus callosum, Respiratory failure, Neo... ORPHA:209905
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Semilobar holoprosencephaly, Perimembranous ventricular septal d... OMIM:618651
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, HbH hemoglobin, Perimembranous ventricular septal defect, Hypochromic microcytic ... OMIM:301040
Fanconi Anemia, Complementation Group A
Anemia, Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Thrombocytopenia, Bruising su... OMIM:227650
Immunodeficiency 40
Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, Elevated circula... OMIM:616433
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis ORPHA:2004
Q Fever
Myocarditis, Purpura, Anemia, Elevated circulating hepatic transaminase concentration, Abnormal h... ORPHA:781
Takenouchi-Kosaki Syndrome
Scoliosis, Camptodactyly, Pulmonic stenosis, Increased mean platelet volume, Thrombocytopenia, Ve... OMIM:616737
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Congenital contracture, Colpocephaly, Agenesis of corpus callosum, Short neck, Ven... OMIM:620156
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Anterior concavity of thoracic vertebrae OMIM:617101
Scedosporiosis
Respiratory failure, Endocarditis, Pericarditis ORPHA:449280
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Anemia, Elevated circulating hepatic transaminase concentration, Pancyt... OMIM:613658
Dravet Syndrome
Cyanotic episode ORPHA:33069
Alg12-Cdg
Muscular ventricular septal defect, Elevated circulating hepatic transaminase concentration, Abno... ORPHA:79324
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation OMIM:614171
Rift Valley Fever
Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Miscarriage, Back pain... ORPHA:319251
21Q22.11Q22.12 Microdeletion Syndrome
Sacral dimple, Anemia, Camptodactyly, Thrombocytopenia, Agenesis of corpus callosum, Atrial septa... ORPHA:261323
Encephalopathy, Ethylmalonic
Petechiae, Acrocyanosis, Death in infancy OMIM:602473
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ventriculomegaly, Cyanosis, Limb hypertonia OMIM:619580
Poliomyelitis
Respiratory failure requiring assisted ventilation, Hypoplasia of the musculature, Abnormal skele... ORPHA:2912
Immunodeficiency With Hyper-Igm, Type 1
Chronic hepatitis, Hypoxemia, Thrombocytopenia, Splenomegaly, Hepatitis, Hemolytic anemia, Neutro... OMIM:308230
Castleman Disease
Jaundice, Anemia, Restrictive cardiomyopathy, Thrombocytopenia, Decreased mean corpuscular volume ORPHA:160
Hemorrhagic Fever-Renal Syndrome
Anemia, Elevated circulating hepatic transaminase concentration, Petechiae, Leukocytosis, Back pa... ORPHA:340
Noonan Syndrome 14
Scapular winging, Kyphosis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Bruising susceptibili... OMIM:619745
Restrictive Dermopathy 2
Intrauterine growth retardation, Cyanosis OMIM:619793
Deeah Syndrome
Death in childhood, Scoliosis, Death in adolescence, Death in infancy, Decreased hemoglobin conce... OMIM:619004
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure OMIM:618233
Cach Syndrome
Hepatosplenomegaly, Flexion contracture, Lateral ventricle dilatation, Intrauterine growth retard... ORPHA:135
Hemophagocytic Lymphohistiocytosis, Familial, 1
Jaundice, Anemia, Hemophagocytosis, Thrombocytopenia, Leukopenia, Splenomegaly OMIM:267700
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Premature graying of hair, Anemia, Macrocytic anemia, Pancytopenia, Leukopenia, ... OMIM:613990
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Joint contracture of the 5th finger OMIM:614407
Slc35A2-Cdg
Elevated circulating hepatic transaminase concentration, Dandy-Walker malformation, Scoliosis, Ca... ORPHA:356961
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Fanconi Anemia, Complementation Group D2
Anemia, Pancytopenia, Hydrocephalus, Reticulocytopenia, Abnormal heart morphology, Thrombocytopen... OMIM:227646
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Increased mean platelet volume, Thrombocytopenia, Umbilical hernia OMIM:620475
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Tarp Syndrome
Cyanosis, Scoliosis, Tetralogy of Fallot, Intrauterine growth retardation, Atrial septal defect, ... ORPHA:2886
Lig4 Syndrome
Cutaneous photosensitivity, Pancytopenia, Acute lymphoblastic leukemia, Thrombocytopenia, Telangi... OMIM:606593
Peroxisome Biogenesis Disorder 5A (Zellweger)
Jaundice, Death in adolescence, Camptodactyly, Elevated circulating alanine aminotransferase conc... OMIM:614866
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Lateral ventricle dilatation OMIM:619278
Myhre Syndrome
Enlarged vertebral pedicles, Respiratory insufficiency, Skeletal muscle hypertrophy, Camptodactyl... OMIM:139210
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Bruising susceptibility, Thrombocytopenia OMIM:277480
Lujo Hemorrhagic Fever
Myocarditis, Purpura, Elevated circulating hepatic transaminase concentration, Fulminant hepatiti... ORPHA:319213
Jacobsen Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Spina bifida, Aortic valve stenosis, Death in i... ORPHA:2308
Immunodeficiency 47
Normocytic anemia, Elevated circulating hepatic transaminase concentration, Accessory spleen, Ele... OMIM:300972
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Leukocytosis ORPHA:83601
Cog5-Cdg
Elevated circulating hepatic transaminase concentration, Premature skin wrinkling, Camptodactyly ... ORPHA:263487
Combined Immunodeficiency Due To Crac Channel Dysfunction
Thrombocytopenia, Splenomegaly, Hemolytic anemia, Myopathy ORPHA:169090
Fanconi Anemia, Complementation Group F
Sacral dimple, Anemia, Thrombocytopenia, Leukopenia, Intrauterine growth retardation, Atrial sept... OMIM:603467
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Myositis, Sc... ORPHA:51
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia OMIM:301110
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Gaucher Disease
Anemia, Pancytopenia, Hydrocephalus, Respiratory insufficiency, Abnormal heart valve morphology, ... ORPHA:355
Adams-Oliver Syndrome 2
Hydrocephalus, Limb hypertonia, Cutis marmorata, Lateral ventricle dilatation OMIM:614219
Idiopathic Hypereosinophilic Syndrome
Anemia, Elevated circulating hepatic transaminase concentration, Vasculitis in the skin, Myocardi... ORPHA:3260
Porphyria, Congenital Erythropoietic
Jaundice, Vertebral compression fracture, Cutaneous photosensitivity, Thrombocytopenia, Splenomeg... OMIM:263700
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Thrombocytopenia, Bruising susceptibility, Impaired ADP-induced p... OMIM:614074
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Autoinflammatory Disease, Systemic, With Vasculitis
Purpura, Jaundice, Anemia, Increased B cell count, Leukocytosis, Increased T cell count, Elevated... OMIM:620376
Dermatomyositis
Myocarditis, Facial erythema, Elevated circulating hepatic transaminase concentration, V-sign, In... ORPHA:221
Stevens-Johnson Syndrome
Elevated circulating hepatic transaminase concentration, Anemia, Thrombocytopenia, Abnormal myoca... ORPHA:36426
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Sacral dimple, Scoliosis, Lower limb hypertonia, Dextrotransposition of the great arteries, Later... OMIM:619995
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Death in childhood, Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:619517
Diamond-Blackfan Anemia 21
Anemia, Erythroid hypoplasia, Cutis marmorata, Thrombocytopenia, Secundum atrial septal defect OMIM:620072
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... OMIM:212093
Shigellosis
Myocarditis, Purpura, Splenic abscess, Leukocytosis, Urticaria, Rhabdomyolysis, Thrombocytopenia,... ORPHA:810
Thrombocytopenia-Absent Radius Syndrome
Fused cervical vertebrae, Scoliosis, Thrombocytopenia, Tetralogy of Fallot, Abnormal cardiac sept... ORPHA:3320
Toxic Epidermal Necrolysis
Elevated circulating hepatic transaminase concentration, Anemia, Thrombocytopenia, Abnormal myoca... ORPHA:537
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Purpura, Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia, Schistocytosis OMIM:235400
Khan-Khan-Katsanis Syndrome
Sacral dimple, Anemia, Scoliosis, Patent foramen ovale, Joint contracture, Colpocephaly, Lymphope... OMIM:618460
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Anemia, Death in infancy, Flexion contracture, Abnormal hemoglobin, Agenesis of corpus callosum, ... ORPHA:847
Waardenburg Syndrome Type 3
Camptodactyly of finger, Atrial septal defect, Acrocyanosis ORPHA:896
Bacterial Toxic-Shock Syndrome
Myocarditis, Myositis, Increased circulating myelocyte count, Elevated circulating creatine kinas... ORPHA:36234
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Agranulocytosis, Thrombocytopen... OMIM:301078
Congenital Disorder Of Glycosylation, Type Iiw
Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulating alkaline ph... OMIM:619525
Methylmalonic Aciduria, Cbla Type
Decreased methylmalonyl-CoA mutase activity, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:251100
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Malignant Atrophic Papulosis
Abnormal pericardium morphology, Respiratory failure, Telangiectasia of the skin, Abnormal myocar... ORPHA:679
Congenital Tracheomalacia
Atrial septal defect, Cyanosis, Respiratory insufficiency, Abnormal heart morphology, Tetralogy o... ORPHA:95430
Microphthalmia With Linear Skin Defects Syndrome
Congenital diaphragmatic hernia, Tricuspid valve prolapse, Sacral dimple, Hydrocephalus, Hypertro... ORPHA:2556
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Pancytopenia, Decreased proportion of class-switched memory B cells,... OMIM:614700
Combined Oxidative Phosphorylation Defect Type 39
Limb hypertonia, Abnormal circulating enzyme concentration or activity, Congenital foot contractu... ORPHA:565624
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Sacral dimple, Exencephaly, Encephalocele ORPHA:2211
Mogs-Cdg
Thrombocytopenia, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, Thoracic scolio... ORPHA:79330
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Elevated circulating alkaline phosphatase concentration, Lateral ventricle dilatation OMIM:615716
Ivic Syndrome
Pectoralis major hypoplasia, Hypoplasia of deltoid muscle, Scoliosis, Leukocytosis, Thrombocytope... OMIM:147750
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Generalized abnormality of skin, Spondylolysis, Muscle hemorrhage, Hypertrophic cardiomyopathy, H... ORPHA:464321
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Anemia, Pancytopenia, Hydrocephalus, Bacterial endocarditis, Scoliosis, Aortic valve calcificatio... ORPHA:2072
Bloom Syndrome
Acute myeloid leukemia, Cutaneous photosensitivity, Abnormal proportion of CD8-positive T cells, ... ORPHA:125
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Cardiomyopathy, Lateral ventricle dilatation OMIM:600721
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Jaundice, Hydrocephalus, Megaloblastic anemia, Abnormal heart morphology, Thrombocytopenia, Intra... ORPHA:79282
3-Methylglutaconic Aciduria, Type Viib
Thrombocytopenia, Leukopenia, Flexion contracture, Intrauterine growth retardation, Neutropenia OMIM:616271
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Primum atrial septal defect, Right ventricular hypertrophy... ORPHA:1329
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Atrial septal defect, Large placenta, Scoliosis, Hemivertebrae, Diastasis recti, ... ORPHA:96334
Atelis Syndrome 2
Sacral dimple, Anemia, Kyphosis, Supravalvar pulmonary stenosis, Pulmonic stenosis, Thrombocytopenia OMIM:620185
Hemophagocytic Syndrome Associated With An Infection
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Elevated circulating ... ORPHA:158048
Wiskott-Aldrich Syndrome
Acute leukemia, Spontaneous hematomas, Purpura, Anemia, Petechiae, Abnormal eosinophil morphology... ORPHA:906
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Atrial septal defect, Scoliosis, Thrombocytopenia, Limb hypertonia ORPHA:457351
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Respiratory failure, Hypoxemia, Cyanosis OMIM:610913
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cervical spinal canal stenosis, Occipital encephalocele, Elevated circulating hepatic transaminas... ORPHA:397715
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612926
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Fragile sk... OMIM:601214
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thrombocytopenia, ... OMIM:603554
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating hepatic transaminase concentration, Portal hypertension, Thrombocy... OMIM:251880
Fetal And Neonatal Alloimmune Thrombocytopenia
Spontaneous hematomas, Purpura, Petechiae, Neonatal alloimmune thrombocytopenia, Ecchymosis ORPHA:853
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Premature graying of hair, Anemia, Increased mean corpuscular volume, Leukopenia... OMIM:127550
Jacobsen Syndrome
Hydrocephalus, Thrombocytopenia, Holoprosencephaly, Flexion contracture, Intrauterine growth reta... OMIM:147791
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Hydrocephalus, Dysplastic pulmonary valve, Dysplastic tricuspid valve, Agen... OMIM:612863
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Hydrocephalus, Right atrial enlargement, Communicating hydrocephalus, Colpocephaly, Agenesis of c... OMIM:615219
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Premature graying of hair, Anemia, Retinal telangiectasia, Scoliosis, Gastrointestinal telangiect... OMIM:612199
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure ORPHA:2707
Hereditary Bullous Dystrophy, Macular Type
Abnormal heart morphology, Acrocyanosis ORPHA:1867
Immunodeficiency 22
Pericarditis, Thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Anemia OMIM:615758
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy OMIM:601494
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612924
Aicardi-Goutieres Syndrome 7
Anemia, Limb hypertonia, Pancytopenia, Hypertrophic cardiomyopathy, Pericardial effusion, Urticar... OMIM:615846
Thrombocytopenia 10
Decreased mean platelet volume, Bruising susceptibility, Petechiae, Thrombocytopenia OMIM:620484
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Joint contracture of the 5th finger, Patent foramen ovale, Joint contracture of the 4th finger, P... OMIM:618914
Acute Radiation Syndrome
Telangiectasia, Thrombocytopenia, Granulocytopenia, Lymphopenia ORPHA:454831
Autoimmune Pulmonary Alveolar Proteinosis
Increased circulating lactate dehydrogenase concentration, Hypoxemia, Cyanosis ORPHA:747
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia OMIM:612925
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Dilated cardiomyopathy, Cyanosis ORPHA:2326
Costello Syndrome
Rhabdomyosarcoma, Ventriculomegaly, Hydrocephalus, Respiratory insufficiency, Hypertrophic cardio... OMIM:218040
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Hydrocephalus, Respiratory insufficiency, Thrombocytopenia, Atrial septal defect, Ventric... ORPHA:163979
Severe X-Linked Intellectual Disability, Gustavson Type
Dandy-Walker malformation, Ventricular septal defect, Dilated fourth ventricle, Lateral ventricle... ORPHA:3078
Neuroleptic Malignant Syndrome
Elevated circulating hepatic transaminase concentration, Leukocytosis, Elevated circulating creat... ORPHA:94093
Gaucher Disease Type 3
Anemia, Pancytopenia, Abnormal heart valve morphology, Mitral valve calcification, Pericardial ef... ORPHA:77261
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis ORPHA:2032
Joubert Syndrome 3
Atrial septal defect, Enlarged fossa interpeduncularis, Lateral ventricle dilatation OMIM:608629
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,... ORPHA:216694
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis ORPHA:51188
Ogden Syndrome
Left atrial enlargement, Umbilical hernia, Cardiomegaly, Ventriculomegaly, Bicuspid aortic valve,... OMIM:300855
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Osteogenesis Imperfecta
Abnormal endocardium morphology, Vertebral compression fracture, Abnormal form of the vertebral b... ORPHA:666
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Kasabach-Merritt Phenomenon
Purpura, Anemia, Petechiae, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemol... ORPHA:2330
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Pancytopenia OMIM:613987
Shwachman-Diamond Syndrome 2
Normocytic anemia, Death in childhood, Death in infancy, Thrombocytopenia, Neutropenia OMIM:617941
Cardiac Valvular Dysplasia 2
Central cyanosis, Dysplastic aortic valve, Pulmonic stenosis, Bicuspid aortic valve, Subvalvular ... OMIM:620067
Thrombocytopenia 3
Decreased mean platelet volume, Petechiae, Thrombocytopenia OMIM:273900
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Elevated circulating hepatic transaminase con... ORPHA:273
Cyclic Neutropenia
Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia, Lymphopenia ORPHA:2686
Ebola Hemorrhagic Fever
Thrombocytopenia, Leukopenia, Hepatitis, Lymphopenia ORPHA:319218
Giant Axonal Neuropathy 1, Autosomal Recessive
Scoliosis, Distal amyotrophy, Facial palsy, Lateral ventricle dilatation OMIM:256850
Myasthenic Syndrome, Congenital, 21, Presynaptic
Respiratory insufficiency, Cyanosis, Weakness of facial musculature, Knee flexion contracture OMIM:617239
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Histiocytoid Cardiomyopathy
Cyanosis, Hydrocephalus, Agenesis of corpus callosum, Cardiomegaly, Ventricular septal defect ORPHA:137675
Lead Poisoning
Abnormal T cell morphology, Anemia, Delayed eruption of teeth, Miscarriage, Imbalanced hemoglobin... ORPHA:330015
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity, Hydrocephalu... OMIM:277400
Fanconi Anemia
Abnormal aortic valve morphology, Anemia, Hydrocephalus, Scoliosis, Hypertrophic cardiomyopathy, ... ORPHA:84
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Caroli Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Intrahepatic cholestasis, Leuk... ORPHA:480520
Dyskeratosis Congenita
Premature graying of hair, Anemia, Scoliosis, Thrombocytopenia, Splenomegaly, Telangiectasia of t... ORPHA:1775
Kikuchi-Fujimoto Disease
Myocarditis, Anemia, Elevated circulating hepatic transaminase concentration, Cutaneous photosens... ORPHA:50918
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Mitral valve calcification, Hypoxemia, Respiratory failure, Cyanosis, ... ORPHA:60025
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Limb hypertonia, Hydranencephaly, Hydrocephalus, Respiratory insufficiency, Splenic cyst, Patent ... OMIM:620371
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Portal hypertension, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Respiratory fa... ORPHA:731
Neuroblastoma
Increased circulating lactate dehydrogenase concentration, Thrombocytopenia, Anemia ORPHA:635
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Death in infancy, Prolonged neonatal jaundice, Colpocephaly, Lateral ventricle dilatation, Intrau... OMIM:210710
Tick-Borne Encephalitis
Elevated circulating hepatic transaminase concentration, Facial palsy, Leukocytosis, Back pain, T... ORPHA:297
Thrombocytopenia-Absent Radius Syndrome
Atrioventricular canal defect, Anemia, Fused cervical vertebrae, Shoulder muscle hypoplasia, Leuk... OMIM:274000
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Sp... OMIM:608233
Thymoma
Aplastic anemia, Myositis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Butterfly vertebrae, Alobar holoprosencephaly, Patent foramen ovale,... OMIM:301043
Niemann-Pick Disease Type C
Jaundice, Respiratory insufficiency, Bone-marrow foam cells, Low cholesterol esterification rate,... ORPHA:646
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood, Skeletal muscle atrophy, Patent urachus OMIM:618252
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Patent foramen ovale, Colpocephaly, Agenesis of corpus callosum, Intrauterine growth retardation,... OMIM:620113
Otopalatodigital Syndrome, Type Ii
Kyphoscoliosis, Stillbirth, Spondylolysis, Hydrocephalus, Respiratory insufficiency, Spina bifida... OMIM:304120
Radio-Renal Syndrome
Respiratory failure, Short neck, Abnormal form of the vertebral bodies ORPHA:3015
Hardikar Syndrome
Decreased liver function, Partial anomalous pulmonary venous return, Elevated circulating hepatic... OMIM:301068
Gaisböck Syndrome
Increased red blood cell count, Elevated plasma cell count, Increased mean corpuscular hemoglobin... ORPHA:90041
Osteopetrosis, Autosomal Recessive 7
Death in childhood, Anemia, Hydrocephalus, Death in infancy, Splenomegaly, Lateral ventricle dila... OMIM:612301
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Dandy-Walker malformation, Scoliosis, Total anomalous pulmonary venous return, Camptodactyly, Inc... ORPHA:487796
Lysinuric Protein Intolerance
Anemia, Hemophagocytosis, Respiratory insufficiency, Thrombocytopenia, Leukopenia, Splenomegaly, ... OMIM:222700
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Scoliosis, Patent foramen ovale, Contracture of the proximal int... ORPHA:457279
Truncus Arteriosus
Transposition of the great arteries, Cyanosis, Abnormal heart valve morphology, Truncus arteriosu... ORPHA:3384
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphoscoliosis, Dysplastic corpus callosum, Scoliosis, Patent foramen ovale, Ventricular septal d... OMIM:300967
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Reduced holocarboxylase synthetase activity in cultured fibroblasts OMIM:253270
Malan Overgrowth Syndrome
Ventriculomegaly, Scoliosis, Lateral ventricle dilatation ORPHA:420179
Joubert Syndrome 21
Respiratory failure, Occipital encephalocele, Splenomegaly, Encephalocele OMIM:615636
Sick Sinus Syndrome 2
Left ventricular noncompaction, Mitral valve prolapse, Left ventricular hypertrophy OMIM:163800
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells, Abnorm... ORPHA:217260
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Facial palsy, Limb muscle weakness, Facial pa... ORPHA:79138
Leukoencephalopathy With Vanishing White Matter 5
Dilated third ventricle, Lateral ventricle dilatation OMIM:620315
Pearson Syndrome
Anemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Cutaneous photosen... ORPHA:699
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Right atrial enlargement, Left ventricular hypertrophy, Right ventricula... ORPHA:99106
Brucellosis
Myocarditis, Purpura, Abnormal aortic valve morphology, Anemia, Miscarriage, Leukocytosis, Perica... ORPHA:1304
Gaucher Disease, Type Ii
Thrombocytopenia, Anemia, Splenomegaly, Death in infancy OMIM:230900
Esophageal Atresia
Abnormal vertebral morphology, Cyanosis, Scoliosis, Tetralogy of Fallot, Ventricular septal defect ORPHA:1199
Fibular Hemimelia
Abnormal heart morphology, Thrombocytopenia, Spina bifida ORPHA:93323
Mercury Poisoning
Respiratory failure ORPHA:330021
Ivic Syndrome
Scoliosis, Thrombocytopenia, Leukocytosis ORPHA:2307
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Thrombo... ORPHA:90038
Eisenmenger Syndrome
Atrioventricular canal defect, Hypochromic microcytic anemia, Iron deficiency anemia, Cyanosis, I... ORPHA:97214
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory failure, Dilated cardiomyopathy, Anemia, Fragile skin ORPHA:79404
Aortic Arch Interruption
Transposition of the great arteries, Cyanosis, Aortic valve atresia, Aortopulmonary window, Trunc... ORPHA:2299
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Kyphoscoliosis, Dysplastic corpus callosum, Ventriculomegaly, Hemivertebrae, Abnormal heart morph... ORPHA:500150
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Cyanosis, Bicuspid pulm... ORPHA:3427
Marburg Hemorrhagic Fever
Jaundice, Elevated circulating hepatic transaminase concentration, Petechiae, Neutrophilia in pre... ORPHA:99826
Tangier Disease
Anemia, Facial diplegia, Coronary artery stenosis, Thrombocytopenia, Hepatosplenomegaly, Left ven... ORPHA:31150
22Q11.2 Deletion Syndrome
Purpura, Tricuspid atresia, Abnormal aortic valve morphology, Meningocele, Hydrocephalus, Scolios... ORPHA:567
Thrombocytopenia 1
Decreased mean platelet volume, Petechiae, Intermittent thrombocytopenia, Bruising susceptibility... OMIM:313900
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Delayed eruption of teeth, Elbow flexion contracture, Cutis marm... OMIM:122470
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Hypoxemia, Cyanosis ORPHA:199241
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Purpura, Erythema, Acrocyanosis ORPHA:343
Wilson Disease
Jaundice, Anemia, Elevated circulating alanine aminotransferase concentration, Limb muscle weakne... OMIM:277900
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Scoliosis, Death in adolescence, Lateral ventricle dilatation, Intraut... OMIM:619229
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Flexion contracture of toe, Elevated circulating hepatic transaminase ... OMIM:256040
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Blue Rubber Bleb Nevus
Thrombocytopenia, Iron deficiency anemia OMIM:112200
Riddle Syndrome
Neonatal asphyxia, Conjunctival telangiectasia, Respiratory failure, Erythema, Telangiectasia ORPHA:420741
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Respiratory insufficiency, Mitral stenosis, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:617260
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Patent foramen ovale, Truncus arteriosus, Abnormal heart morph... ORPHA:980
Lysinuric Protein Intolerance
Anemia, Hemophagocytosis, Elevated circulating hepatic transaminase concentration, Respiratory in... ORPHA:470
Osteopetrosis With Renal Tubular Acidosis
Anemia, Pancytopenia, Abnormal circulating enzyme concentration or activity, Elevated circulating... ORPHA:2785
Chronic Visceral Acid Sphingomyelinase Deficiency
Respiratory failure requiring assisted ventilation, Decreased liver function, Abnormal blood gas ... ORPHA:77293
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:169105
Paroxysmal Nocturnal Hemoglobinuria
Jaundice, Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentration or activity, Reticulocy... ORPHA:447
Dyskeratosis Congenita, Autosomal Recessive 1
Aplastic anemia, Thrombocytopenia, Pancytopenia OMIM:224230
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Anemia, Lip telangiectasia, Miscarriage, Nasal mu... OMIM:187300
Alkaptonuria
Intervertebral disk calcification, Abnormal heart valve morphology, Scoliosis, Thickened Achilles... ORPHA:56
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Oral cavity telangiectasia, Nail bed telangiectasia, Anemia, Lip telangiec... OMIM:600376
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Neonatal respiratory distress, Death in childhood, Cyanosis, Death in infancy OMIM:618426
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod... ORPHA:391487
Glutaric Acidemia I
Hydrocephalus, Reduced peroxisomal glutaryl-CoA oxidase activity, Lateral ventricle dilatation OMIM:231670
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Rhabdomyosarcoma, B lymphocytopenia, T lymphocytopenia, Conjunctival... OMIM:251260
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Agenesis of corpus callosum, Dilated third ventricle, Kyphosis, Lateral ventricle dilatation OMIM:619244
Fraser Syndrome 2
Respiratory failure, Short neck, Hypoplasia of the thymus OMIM:617666
Crimean-Congo Hemorrhagic Fever
Myocarditis, Spontaneous hematomas, Purpura, Jaundice, Pancytopenia, Leukocytosis, Elevated circu... ORPHA:99827
Cardiomyopathy, Dilated, 1S
Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Interstitial ca... OMIM:613426
Long Qt Syndrome 15
Left ventricular noncompaction OMIM:616249
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Limb hypertonia, Dilated third ventricle, Lower limb hypertonia, Lateral ventricle dilatation, Pa... OMIM:617296
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Anomalous pulmonary venous return, Right atrial enlargement, Right ventricular dilatati... ORPHA:99104
Tuberous Sclerosis Complex
Generalized abnormality of skin, Cardiac rhabdomyoma, Subependymal nodules, Noncommunicating hydr... ORPHA:805
Exercise-Induced Malignant Hyperthermia
Decreased liver function, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Thr... ORPHA:466650
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Oculocerebrorenal Syndrome Of Lowe
Anemia, Delayed eruption of teeth, Respiratory insufficiency, Scoliosis, Kyphosis, Death in infan... ORPHA:534
Congenital Erythropoietic Porphyria
Reticulocytosis, Poikilocytosis, Fragile skin, Anisocytosis, Severe photosensitivity, Leukopenia,... ORPHA:79277
Developmental And Epileptic Encephalopathy 31B
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum OMIM:620352
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Lateral ventricle dilatation ORPHA:363654
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Purpura, Impaired lymphocyte transformation with phytohemagglutinin,... OMIM:301000
Primary Sjögren Syndrome
Normocytic anemia, Purpura, Normochromic anemia, Chronic active hepatitis, Myositis, Chronic hepa... ORPHA:289390
Ethylene Glycol Poisoning
Cyanosis, Facial palsy ORPHA:31826
Weaver Syndrome
Scoliosis, Diastasis recti, Camptodactyly, Kyphosis, Lateral ventricle dilatation, Umbilical hern... OMIM:277590
Choanal Atresia
Cyanosis ORPHA:137914
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Dilated third ventricle, Kyphosis, Contracture of the proximal interphalangeal joint o... ORPHA:464738
Sacral Defect With Anterior Meningocele
Myeloschisis, Anterior sacral meningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Myelom... OMIM:600145
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Agenesis of corpus callosum, Lateral ventricle dilatation, Dilated c... OMIM:300952
Yellow Fever
Jaundice, Leukocytosis, Elevated circulating alanine aminotransferase concentration, Elevated cir... ORPHA:99829
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Transposition of the great arteries, Cyanosis, Aortopulmonary window, Tetralogy of Fallot, Atrial... ORPHA:99050
Hutchinson-Gilford Progeria Syndrome
Generalized abnormality of skin, Abnormal aortic valve morphology, Premature skin wrinkling, Dela... ORPHA:740
Aicardi Syndrome
Butterfly vertebrae, Dandy-Walker malformation, Scoliosis, Hemivertebrae, Choroid plexus cyst, Di... OMIM:304050
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Hydrocephalus, Histiocytoid cardiomyopathy, Colpocephaly, Agenes... OMIM:309801
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Sacral dimple, Vascular skin abnormality, Dilated third ventricle, La... ORPHA:544488
Liver Disease, Severe Congenital
Left atrial enlargement, Jaundice, Anemia, Cardiomegaly, Intrahepatic cholestasis, Elevated circu... OMIM:619991
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Elbow flexion contracture, Camptodactyly of finger, Agenesis of ... ORPHA:1692
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Scoliosis, Flexion contracture, Lateral ventricle dilatation ORPHA:2148
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia, Normochromic anemia OMIM:254900
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Scoliosis, Cyanosis, Elevated circulating hepatic transaminase concentration, Cardiorespiratory a... ORPHA:293987
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Abnormally ossifi... ORPHA:2636
Atrial Septal Defect, Ostium Secundum Type
Abnormal mitral valve morphology, Right ventricular dilatation, Cyanosis, Right atrial enlargement ORPHA:99103
Keppen-Lubinsky Syndrome
Respiratory insufficiency, Scoliosis, Lack of facial subcutaneous fat, Flexion contracture, Later... OMIM:614098
Geleophysic Dysplasia 3
Respiratory failure OMIM:617809
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Vasculitis in the skin, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Respiratory failure, Intrauterine growth retardation ORPHA:2554
Congenital Tracheal Stenosis
Neonatal asphyxia, Ventricular septal defect, Cyanosis, Hypoplastic left heart ORPHA:141127
Roberts Syndrome
Severe intrauterine growth retardation, Wrist flexion contracture, Thrombocytopenia, Knee flexion... ORPHA:3103
Primary Hyperoxaluria
Elevated circulating hepatic transaminase concentration, Cutis marmorata, Cardiomyopathy, Acrocya... ORPHA:416
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Scoliosis, Acrocyanosis OMIM:223900
Smith-Lemli-Opitz Syndrome
Sacral dimple, Hydrocephalus, Dandy-Walker malformation, Hypertrophic cardiomyopathy, Death in in... OMIM:270400
Choreoacanthocytosis
Distal amyotrophy, Abnormal erythrocyte enzyme concentration or activity, Elevated circulating cr... ORPHA:2388
Pitt-Hopkins Syndrome
Short neck, Scoliosis, Failure of eruption of permanent teeth, Acrocyanosis ORPHA:2896
Cardiogenic Shock
Hypoxemia, Cyanosis ORPHA:97292
Dyskeratosis Congenita, X-Linked
Premature graying of hair, Anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Leukop... OMIM:305000
Congenital Total Pulmonary Venous Return Anomaly
Respiratory failure requiring assisted ventilation, Infracardiac total anomalous pulmonary venous... ORPHA:99125
Familial Dysautonomia
Scoliosis, Acrocyanosis ORPHA:1764
Postinfectious Vasculitis
Palpable purpura, Bacterial endocarditis, Cardiomyopathy, Viral hepatitis, Vasculitis in the skin... ORPHA:48435
Autosomal Recessive Spastic Paraplegia Type 11
Generalized limb muscle atrophy, Scoliosis, Distal amyotrophy, Lateral ventricle dilatation, Lowe... ORPHA:2822
Unilateral Polymicrogyria
Abnormal heart morphology, Cyanosis ORPHA:268943
Nocardiosis
Abnormal heart valve morphology, Respiratory failure, Endocarditis, Pericarditis ORPHA:31204
Kabuki Syndrome 1
Atrial septal defect, Abnormal vertebral morphology, Hydrocephalus, Scoliosis, Lateral ventricle ... OMIM:147920
Helsmoortel-Van Der Aa Syndrome
Advanced eruption of teeth, Scoliosis, Hyperlordosis, Facial palsy, Gliosis, Abnormal heart morph... OMIM:615873
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Thrombocytopenia, Leukocytosis, Hemolytic anemia ORPHA:544482
Digeorge Syndrome
Anemia, Intervertebral disk degeneration, Scoliosis, Truncus arteriosus, Hypoplasia of the thymus... OMIM:188400
Leptospirosis
Jaundice, Pericarditis, Rhabdomyolysis, Thrombocytopenia, Elevated serum transaminases during inf... ORPHA:509
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Gliosis, Lateral ventricle dilatation OMIM:607485
Generalized Arterial Calcification Of Infancy
Elevated alkaline phosphatase of bone origin, Fused cervical vertebrae, Ventricular hypertrophy, ... ORPHA:51608
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Acute Liver Failure
Jaundice, Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Bruising sus... ORPHA:90062
Classical Ehlers-Danlos Syndrome
Tricuspid valve prolapse, Prematurely aged appearance, Scoliosis, Fragile skin, Umbilical hernia,... ORPHA:287
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Prolonged neonatal jaundice, Splenomegaly, Lateral ventricle dil... OMIM:619534
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Ventricular septal defect, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Noonan Syndrome 1
Kyphoscoliosis, Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia, Hypertrophic ... OMIM:163950
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Ventriculomegaly, Neonatal respiratory distress, Flexion contracture, Lateral ventricle dilatation OMIM:619479
Insulin-Resistance Syndrome Type B
Thrombocytopenia, Leukopenia ORPHA:2298
Systemic Lupus Erythematosus
Thrombocytopenia, Leukopenia, Hemolytic anemia, Cutaneous photosensitivity ORPHA:536
Hyperoxaluria, Primary, Type I
Reduced hepatic alanine-glyoxylate aminotransferase activity, Cutis marmorata, Acrocyanosis OMIM:259900
Sarcoidosis
Decreased liver function, Anemia, Facial palsy, Increased T cell count, Portal hypertension, Leuk... ORPHA:797
Coffin-Lowry Syndrome
Lumbar kyphosis, Scoliosis, Kyphosis, Cutis marmorata, Acrocyanosis, Ventriculomegaly OMIM:303600
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology, Patent foramen ovale, Abnormality of the cervical spine, P... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology, Patent foramen ovale, Abnormality of the cervical spine, P... ORPHA:353277
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Atrial septal defect, Ventricular septal defect, Lateral ventricle dilatation OMIM:263520
Goodpasture Syndrome
Cyanosis, Anemia OMIM:233450
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Scoliosis, Colpocephaly OMIM:620083
Genitourinary And/Or Brain Malformation Syndrome
Kyphoscoliosis, Dysplastic corpus callosum, Holoprosencephaly, Colpocephaly, Agenesis of corpus c... OMIM:618820
Ulbright-Hodes Syndrome
Respiratory failure, Short neck, Ovoid thoracolumbar vertebrae, Severe intrauterine growth retard... ORPHA:3404
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Thrombocytopenia, Abnormality of the extraocular muscles ORPHA:79078
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Lip telangiectasia, Nasal mucosa telangiectasia, Conjunctival telangiectas... OMIM:610655
Neurocardiofaciodigital Syndrome
Double inlet left ventricle, Dilated fourth ventricle, Tetralogy of Fallot, Lateral ventricle dil... OMIM:619869
Chromosome 1P36 Deletion Syndrome, Distal
Atrial septal defect, Hydrocephalus, Noncompaction cardiomyopathy, Scoliosis, Patent foramen oval... OMIM:607872
Hypermobile Ehlers-Danlos Syndrome
Acrocyanosis, Scoliosis, Umbilical hernia, Tendon rupture, Mitral valve prolapse, Aplasia/Hypopla... ORPHA:285
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Lower limb hypertonia, Patent foramen ovale, Colpocephaly ORPHA:477993
6Q Terminal Deletion Syndrome
Short neck, Scoliosis, Colpocephaly ORPHA:75857
Genitopatellar Syndrome
Delayed eruption of teeth, Scoliosis, Hip contracture, Colpocephaly, Agenesis of corpus callosum,... OMIM:606170

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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