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Gene: Rpl5 MGI:102854

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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:
ribosomal protein L5
Synonyms:
U21RNA,  Ska23,  Skax23,  Skam23Jus

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 Rpl5 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.

The table below shows human diseases associated to Rpl5 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Micrognathia, Short thumb,... OMIM:612561
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, Pallor... ORPHA:124

The table below shows human diseases predicted to be associated to Rpl5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Abnormal number of granulocyte precursors, Pallor, Neutropenia, Erythroid hype... ORPHA:75564
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Micrognathia, Short thumb,... OMIM:612561
Congenital Amegakaryocytic Thrombocytopenia
Short stature, Abnormal hemoglobin, Abnormal form of the vertebral bodies, Anemia, Abnormal cardi... ORPHA:3319
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Short stature, Megaloblastic anemia, Stroke, Pallor, Atrial septal def... ORPHA:49827
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Bone marrow hypercellularity, Macrocytic anemia, Megakaryocyte nucleus hy... ORPHA:86841
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia, Microcephaly OMIM:600546
Methylcobalamin Deficiency Type Cble
Syndactyly, Macrocytic anemia, Pancytopenia, Microcephaly, Postnatal growth retardation, Megalobl... ORPHA:2169
Wt Limb-Blood Syndrome
Pancytopenia, Ulnar deviation of the 3rd finger, Micrognathia, Absent thumb, Short thumb, Ulnar d... OMIM:194350
Infantile Liver Failure Syndrome 1
Long toe, Acute hepatic failure, Macrocytic anemia, Hepatomegaly, Elevated hepatic transaminase, ... OMIM:615438
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Growth delay, Primary microcephaly, Thrombocytopenia, Adducted thumb OMIM:601815
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Syndactyly, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate prod... OMIM:615631
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Small for gestational age, Ventricular septal defect, Splenomegaly, P... OMIM:606003
Primary Myelofibrosis
Bone marrow hypercellularity, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae... ORPHA:824
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Prog... OMIM:610333
Chromosome 5Q Deletion Syndrome
Megakaryocyte nucleus hypolobulation, Erythroid hypoplasia, Anemia of inadequate production, Refr... OMIM:153550
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Short stature, Duplication of thumb phalanx, Thrombocytopen... OMIM:616435
Shwachman-Diamond Syndrome 1
Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaphyseal irregularity, Co... OMIM:260400
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Birk-Aharoni Syndrome
Macrocytic anemia, Micrognathia, Microcephaly, Muscular ventricular septal defect, Absent patella... OMIM:620071
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Postaxial p... OMIM:614576
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Short stature, Splenomegaly, Decreased body weight, Vascular calcific... OMIM:231000
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Se... OMIM:613839
Amegakaryocytic Thrombocytopenia, Congenital, 1
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Diamond-Blackfan Anemia 1
Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Pallor, Triphalangeal thumb, Ne... OMIM:105650
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Microcephaly, Abnormality of the liver, Intrauterine growth retardation, Thrombocyt... ORPHA:1980
Diamond-Blackfan Anemia 4
Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutrope... OMIM:612527
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... OMIM:618963
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Syndactyly, Mild postnatal growth retardation, Small for gesta... OMIM:224120
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Anemia, Sideroblastic, 1
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... OMIM:300751
Diamond-Blackfan Anemia 7
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Short thumb, Patent ... OMIM:612562
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Short stature, Ventricular septal defect, Situs inversus totalis, Thiamine-... OMIM:249270
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Growth delay, Megaloblastic anemia OMIM:243320
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Short stature, Talipes, Abnormal limb bone morphology, Growth delay, ... ORPHA:251009
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Ankle clonus, Neutropenia, Hypoplastic anemi... OMIM:159550
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated hepatic transaminase, Sideroblastic anemia, Hepatomegaly, Growth delay, Pallor, Hypertro... OMIM:613561
Diamond-Blackfan Anemia 5
Macrocytic anemia, Short stature, Ventricular septal defect, Erythroid hypoplasia, Reticulocytope... OMIM:612528
Fanconi Anemia, Complementation Group C
Pancytopenia, Short stature, Small for gestational age, Ventricular septal defect, Absent thumb, ... OMIM:227645
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... OMIM:617780
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Microcephaly, Splenomeg... ORPHA:2585
Diamond-Blackfan Anemia 8
Macrocytic anemia, Short stature, Growth delay, Increased mean corpuscular volume, Neutropenia OMIM:612563
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Pallor, Thrombocytopenia ORPHA:517
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Severe short stature, Rhizomelia, Short femur, Hypoplasia of the femoral head, Wid... OMIM:619598
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Cardiomyopathy, Pancreatitis, Thrombocytopenia ORPHA:27
Acute Erythroid Leukemia
Bone marrow hypercellularity, Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocel... ORPHA:318
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Metaphyseal dysplasia, Hepatomegaly, Short stature, Elevated circulating as... OMIM:614727
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Short long bone, Stillbirth, Scoliosis, Camptodactyly, Neonatal death, ... OMIM:619751
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Anemia, Increased mean corpuscular... OMIM:619041
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia OMIM:182170
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Pyoderma gangrenosum, Knee flexion contracture, Hepatosplenomega... OMIM:604416
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl... ORPHA:398124
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplasia, Metaphys... ORPHA:811
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Short palm, Macrocytic anemia, Metaph... OMIM:250250
Glutamate Formiminotransferase Deficiency
Growth delay, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia OMIM:229100
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Thoracic kyphosis, Lateral displacement of the femoral head, Neutrope... OMIM:242900
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:229050
Fanconi Anemia, Complementation Group E
Pancytopenia, Short stature, Small for gestational age, Anemic pallor, Absent thumb, Absent radiu... OMIM:600901
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Intrauterine growth retardation, Thrombocytopenia OMIM:189800
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia, Triphalange... OMIM:615550
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Leukopenia, Pulmonary artery atresia, Hepatomegaly, Short stature, Postaxial... OMIM:301056
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Short stature, Small for gestational age, Dextrocardia, Megaloblastic... OMIM:277380
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... OMIM:614470
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Finger syndactyly, Radioulnar synostosis, Hip dysplasia, Clinod... ORPHA:71289
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... OMIM:600121
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Hepatosplenomegaly, Growth delay, Cholestatic liver disease, Hepatic fibrosis, Hemo... OMIM:619858
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Short stature, Splenomegaly, Anemia, Reduced natural killer cell... OMIM:616050
Diamond-Blackfan Anemia
Radial artery aplasia, Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, Pallor... ORPHA:124
Forsythe-Wakeling Syndrome
Short stature, Microcephaly, Growth delay, Decreased body weight, Thrombocytopenia OMIM:613606
Formiminoglutamic Aciduria
Atrial septal defect, Anemia, Megaloblastic anemia ORPHA:51208
Fallot Complex With Severe Mental And Growth Retardation
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis, Double outlet right ventricle,... OMIM:601127
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia... ORPHA:848
Fanconi Anemia, Complementation Group A
Pancytopenia, Short stature, Small for gestational age, Anemic pallor, Absent thumb, Absent radiu... OMIM:227650
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Sandwich appearance of vertebral bodies, Femur fracture, Splenomegaly... OMIM:259700
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Sti... ORPHA:85212
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Microcep... ORPHA:858
Seckel Syndrome 1
11 pairs of ribs, Pes planus, Pancytopenia, Ivory epiphyses, Sandal gap, Abnormal finger flexion ... OMIM:210600
Propionic Acidemia
Hepatomegaly, Pancytopenia, Short stature, Cerebellar hemorrhage, Anemia, Cardiomyopathy, Neutrop... OMIM:606054
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Micrognathia, Microcephaly, Hyperlo... OMIM:600462
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Redundant skin, Micromelia, Hypoplastic ilia, Abnormal sac... ORPHA:1860
Combined Oxidative Phosphorylation Deficiency 18
Intrauterine growth retardation, Macrocytic anemia, Hypersegmentation of neutrophil nuclei OMIM:615578
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n... OMIM:169400
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Micrognathia, Postnatal growth retardation, Patent ductus arteriosus, ... OMIM:179613
Eng-Strom Syndrome
Ventricular septal defect, Short stature, Camptodactyly of finger, Abnormal cardiac septum morpho... ORPHA:1937
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardial effusion, ... ORPHA:77259
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Feingold Syndrome 2
Ventricular septal defect, Short stature, Postnatal growth retardation, Short thumb, Short middle... OMIM:614326
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Microcephaly, Splenomegaly, Intrauterine growth retardation, Thro... OMIM:615010
Thrombocytopenia 2
Increased megakaryocyte colony forming unit count, Leukocytosis, Thrombocytopenia OMIM:188000
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Short stature, Microcephaly, Dilated cardiomyopathy, Palmoplantar ... OMIM:613989
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia, Failure to thrive, Cardiomyopathy OMIM:619046
Fanconi Anemia, Complementation Group I
Short stature, Ventricular septal defect, Absent thumb, Microcephaly, Short thumb, Short 1st meta... OMIM:609053
Congenital Rubella Syndrome
Hepatomegaly, Short stature, Ventricular septal defect, Microcephaly, Splenomegaly, Patent ductus... ORPHA:290
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Ventricular septal defect, Small for gestational age, Fractured radius, Cardiomegaly... OMIM:616897
Fanconi Anemia, Complementation Group G
Microcephaly, Abnormal thumb morphology, Growth delay, Anemia, Neutropenia, Leukemia, Thrombocyto... OMIM:614082
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Portal hypertension, Growth delay, Hepatic fibrosis, Bone marrow hypocellularity, A... OMIM:617341
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hepatic failure, Failure to thrive, Hepatic steatosis OMIM:617872
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Short stature, Microcephaly, Avascular necrosis of the capital fem... OMIM:613990
Diamond-Blackfan Anemia 13
Normocytic anemia OMIM:615909
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Thrombocytopenia, Anemia ORPHA:295
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... OMIM:147750
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... OMIM:617052
Transcobalamin Deficiency
Pancytopenia, Megaloblastic bone marrow, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis OMIM:300635
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive
Macrocytic anemia, Macrocytic dyserythropoietic anemia OMIM:619789
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph... OMIM:308240
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... OMIM:613011
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Vertebral compression fracture, Anemia, ... OMIM:230800
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th... ORPHA:158057
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Micrognathia OMIM:300946
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Failure to thrive, Thrombocytopenia ORPHA:90045
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Clubbing of fingers, Bone marrow hypocellularity, Cirrhosis, Myelo... OMIM:614742
Wolfram Syndrome 1
Sideroblastic anemia, Megaloblastic anemia, Limited mobility of proximal interphalangeal joint, S... OMIM:222300
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hallux valgus, Relative macrocephaly, Pancytopenia, Hepatomegaly, Short stature, Failure to thriv... OMIM:613385
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Syndactyly, Radial bowing, Apl... OMIM:605432
Pyruvate Kinase Deficiency Of Red Cells
Decreased hemoglobin concentration, Reticulocytosis, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Pallor, Poikilocytos... OMIM:615234
Wolcott-Rallison Syndrome
Acute hepatic failure, Metaphyseal dysplasia, Hepatomegaly, Elevated hepatic transaminase, Short ... ORPHA:1667
Diamond-Blackfan Anemia 10
Macrocytic anemia, Short stature, Ventricular septal defect, Micrognathia, Patent ductus arterios... OMIM:613309
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Micrognathia, Microcephaly, Leukocytosis, Erythema, Acute leukemia, G... ORPHA:99812
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Megalobla... OMIM:275350
Amed Syndrome, Digenic
Acute myeloid leukemia, Short stature, Microcephaly, Anemia, Leukopenia, Bone marrow hypocellular... OMIM:619151
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... OMIM:261000
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Short stature, Tarsal synostosis, Micrognathia, Flat capital... OMIM:147891
Hatipoglu Immunodeficiency Syndrome
Pancytopenia, Petechiae, Proportionate short stature, Hemivertebrae, Dry skin, Intrauterine growt... OMIM:620331
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Failure to thrive, Megaloblastic anemia OMIM:250940
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Niemann-Pick Disease, Type B
Hepatomegaly, Foam cells with lamellar inclusion bodies, Short stature, Bone-marrow foam cells, T... OMIM:607616
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypopl... OMIM:108720
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Overriding aorta, ... OMIM:617021
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Failure to thrive, Pallor, Megaloblastic bone marrow ORPHA:79283
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Normocytic anemia, Failure to thrive, Megaloblastic anemia OMIM:236270
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Micrognathia, Microcepha... OMIM:259720
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Fanconi Anemia, Complementation Group D2
Anemic pallor, Reticulocytopenia, Aplasia of the 1st metacarpal, Neutropenia, Short stature, Shor... OMIM:227646
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Bone Marrow Failure Syndrome 4
Rhizomelia, Short stature, Microcephaly, Anemia, Leukopenia, Bone marrow hypocellularity, Dry ski... OMIM:618116
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Dilated cardiomyopathy, Ski... ORPHA:231226
Catel-Manzke Syndrome
Ventricular septal defect, Short stature, Camptodactyly of finger, Micrognathia, Metatarsus valgu... ORPHA:1388
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hepatomegaly, Anemia of inadequate produc... ORPHA:231214
Acute Peripheral Arterial Occlusion
Leukocytosis, Stroke, Pallor ORPHA:90064
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Thrombocytopenia OMIM:166990
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Patent ductus arteriosus, Cholestasis, Anemia, Perimembranous ventricular septal de... OMIM:608104
Majeed Syndrome
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Growth delay, Decreased m... OMIM:609628
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Abnormal megakaryocyte morp... ORPHA:67044
Femoral-Facial Syndrome
Short femur, Short stature, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic ... ORPHA:1988
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Shor... OMIM:613673
Roifman Syndrome
Noncompaction cardiomyopathy, Short metacarpal, Hip contracture, Short stature, Eosinophilia, Ven... OMIM:616651
Ritscher-Schinzel Syndrome 1
Syndactyly, Ventricular septal defect, Micrognathia, Missing ribs, Hemivertebrae, Double outlet r... OMIM:220210
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... OMIM:619924
Methylmalonic Acidemia With Homocystinuria Type Cblf
Megaloblastic anemia, Intraventricular hemorrhage, Abnormal heart morphology, Growth delay, Reduc... ORPHA:79284
Fanconi Anemia, Complementation Group B
Aplastic anemia, Ventricular septal defect, Absent thumb, Patent ductus arteriosus, Coarctation o... OMIM:300514
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmon... OMIM:618845
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Cirrhosis, Myeloid leukemia OMIM:614743
Cog7-Cdg
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Micrognathia, Postnatal g... ORPHA:79333
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Howell-Jolly bodies, Portal inflammation, Elevated circulating alanine... OMIM:613759
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Short stature, Ventricular septal defect, Dextrocardia, Long fingers, Growth d... OMIM:614294
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice... OMIM:615512
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Short stature, Microcephaly, Short thumb, Short middle... ORPHA:391646
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Short stature, Postnatal growth retardation, We... OMIM:212750
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... ORPHA:98850
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Increased... ORPHA:398063
Fanconi Anemia, Complementation Group P
Pancytopenia, Short stature, Micrognathia, Absent thumb, Short thumb, Microcephaly, Hypoplasia of... OMIM:613951
Pernicious Anemia
Megaloblastic anemia OMIM:170900
Imerslund-Grasbeck Syndrome 2
Megaloblastic anemia OMIM:618882
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Microcephaly, Fibular hypoplasi... OMIM:612447
Bangstad Syndrome
Pancytopenia, Severe short stature, Small for gestational age OMIM:210740
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Tapered finger, Long fingers, Leukemia, Decreased CD4:CD8 r... OMIM:614038
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular ... OMIM:611590
Dyskeratosis Congenita, Autosomal Dominant 6
Pancytopenia, Aplastic anemia, Microcephaly, Bone marrow hypocellularity, Intrauterine growth ret... OMIM:616553
Orotic Aciduria
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... OMIM:258900
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for g... OMIM:557000
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short femur, Lumbar hyperlordosis, Micrognathia, Abnormal foot mor... ORPHA:94068
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Pancreatic Colipase Deficiency
Growth delay, Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia ORPHA:309108
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Acute Promyelocytic Leukemia
Bone marrow hypercellularity, Pancytopenia, Petechiae, Leukocytosis, Weight loss, Anemia, Leukope... ORPHA:520
Bone Marrow Failure Syndrome 1
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity OMIM:614675
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Long toe, Mesenteric cyst, Ventricular septal defect, Overlapping toe, Parachute mitral valve, Lo... OMIM:618316
Pelviscapular Dysplasia
Congenital hip dislocation, Short stature, Short femur, Hypoplastic scapulae, Redundant neck skin... ORPHA:93333
Chloramphenicol Toxicity
Aplastic anemia OMIM:515000
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Short stature, Pallor ORPHA:2786
Transaldolase Deficiency
Coarctation of aorta, Anemia, Hepatosplenomegaly, Biventricular hypertrophy, Cirrhosis, Atrial se... ORPHA:101028
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Abnormal bone marrow cell morphology, Reticulocytopenia, Bone... ORPHA:101096
Diamond-Blackfan Anemia 11
Granulocytic hypoplasia, Hypoplasia of the ulna, Bicuspid aortic valve, Short stature, Anemia of ... OMIM:614900
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia ORPHA:75563
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Growth delay, Bone marrow hypocellularity, Cirrhosis, Thrombocytopenia OMIM:613987
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Imerslund-Grasbeck Syndrome 1
Megaloblastic anemia OMIM:261100
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Fanconi Anemia, Complementation Group N
Ventricular septal defect, Aplastic anemia, Microcephaly, Postnatal growth retardation, Short thumb OMIM:610832
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal... ORPHA:79124
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Post... OMIM:610198
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Small for gestational age, Rhizomelia, Sandal gap, Patent ductus arte... OMIM:607143
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,... ORPHA:3226
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Macrocytic anemia, Short stature, Granulocytopenia, Micrognathia OMIM:606164
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ... ORPHA:86843
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Diaphyseal sclerosis, Hepatosplenomegaly, Anemia, Gen... OMIM:259710
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical verteb... ORPHA:56304
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Short stature, Autoimmune throm... ORPHA:1855
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia ORPHA:163596
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Micrognathia, Delayed epiphyseal ossification, Preaxial polydactyly, Knee flexion con... OMIM:210710
Cernunnos-Xlf Deficiency
Microcephaly, Thrombocytopenia, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... ORPHA:169079
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Kyphosis, ... ORPHA:1354
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flask deformity of the femurs, Thro... OMIM:610539
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Psoriasiform lesion, Chronic neutropenia, Autoimmune t... OMIM:614700
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Lumbar hyperlordosis, Bowing of the legs, ... OMIM:100800
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Absent circulating B cells OMIM:620282
Myopathic Ehlers-Danlos Syndrome
Pes planus, Foot joint contracture, Shoulder flexion contracture, Ankle flexion contracture, Tape... ORPHA:536516
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Ventricular septal defect, Anterior encephalocele, Foot oligodactyly, Scoliosis, Amelia OMIM:601357
Niemann-Pick Disease, Type A
Hepatomegaly, Foam cells with lamellar inclusion bodies, Short stature, Elevated circulating aspa... OMIM:257200
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hemophagocytosis, Neutropenia, Petechiae ORPHA:79477
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
3-Methylglutaconic Aciduria Type 4
Microcephaly, Cardiomyopathy, Decreased liver function, Failure to thrive, Thrombocytopenia ORPHA:67048
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Progressive microcephaly, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Ecchymosis, Th... ORPHA:88
Livedoid Vasculopathy
Pancytopenia, Enlargement of the ankles, Abnormal capillary morphology, Venous insufficiency, Abn... ORPHA:542643
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Micrognathia, Vertebral segmentation defect, Rhizomelia, Short stature, Giant... OMIM:611209
Microcephaly-Cardiomyopathy Syndrome
Sandal gap, Ventricular septal defect, Short stature, Microcephaly, Dilated cardiomyopathy, Clino... ORPHA:2515
Lig4 Syndrome
Pancytopenia, Plantar warts, Small for gestational age, Microcephaly, Acute lymphoblastic leukemi... OMIM:606593
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Abnormal erythrocyte morphology, Micrognathia, Folate-unresponsive megaloblastic anemia, Megalobl... ORPHA:2575
Immunodeficiency 21
Megakaryocyte nucleus hypolobulation, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytope... OMIM:614172
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Ventricular septal defect, Cholelithiasis, Pericardial effusion, Normo... OMIM:618775
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Short stature, Megaloblastic anemia, Microcephaly, Umbilical hernia, Primary microcephaly, Intrau... ORPHA:79351
Heterotaxy, Visceral, 1, X-Linked
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... OMIM:306955
Preeclampsia
Elevated hepatic transaminase, Increased body mass index, Small for gestational age, Abnormality ... ORPHA:275555
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Overriding aorta, Micrognathia, Microcephaly, Patent ductus arteriosus, 2-3... ORPHA:3304
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused ce... ORPHA:3320
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Hemophagocytosis OMIM:615122
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Isolated Agammaglobulinemia
Failure to thrive, Short stature, Abnormality of neutrophils, Clinodactyly of the 5th toe, Thromb... ORPHA:229717
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Arachnodactyly, Short stature, Microcephaly, Microcytic anemia, He... OMIM:619013
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Petechiae, Thrombocytopenia, Splenomegaly, Growth delay, Sclerotic... OMIM:611490
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au... ORPHA:572
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth... ORPHA:300298
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Micrognathia, Patent ductus arteriosus, Coarctation of aorta, Growth delay, Normochromic anemia, ... OMIM:614857
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Genitopalatocardiac Syndrome
Ventricular septal defect, Micrognathia, Right aortic arch, Transposition of the great arteries, ... OMIM:231060
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Short stature, Anisocytosis, Abnormal erythrocyte morphology, Incr... ORPHA:98870
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Macrocephaly, Failure to thrive, Thrombocytopenia OMIM:615085
Bone Marrow Failure Syndrome 2
Microcephaly, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:615715
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Short stature, Micrognathia, Microcytic anemia, Microcephaly, Short toe, Talipes equinovarus, Fai... ORPHA:98791
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Ecchymosis, Skin ulcer, Hepa... ORPHA:2072
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Vexas Syndrome
Macrocytic anemia, Megakaryocyte dysplasia, Arteritis, Thrombocytopenia OMIM:301054
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:251110
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Anemia, Leukopenia, Failure to thrive, Thrombocytopenia OMIM:613845
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Relative macrocephaly, Micrognathia, Postnatal growth retardation, Acromicria, Small hand, Obesit... ORPHA:254525
Noonan Syndrome 12
11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Tetralogy of Fallot, Ly... OMIM:618624
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hepatosplenome... OMIM:603553
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Relative macrocephaly, Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholang... ORPHA:228426
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... ORPHA:86839
Schimke Immuno-Osseous Dysplasia
Neutropenia, Lumbar hyperlordosis, Short stature, Decreased proportion of naive CD8 T cells, Isch... ORPHA:1830
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micrognathia, Micromeli... ORPHA:440354
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Pearson Syndrome
Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomegaly, Cardiomy... ORPHA:699
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Hepatomegaly, Microcephaly, Pericardial effusion, Splenomegaly, V... OMIM:615846
Autosomal Dominant Optic Atrophy, Classic Form
Macrocytic anemia, Pes cavus ORPHA:98673
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Intrauterine growth retardation, Re... OMIM:620133
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Microcephaly, Hyperlordosis, Small hand, Growth... OMIM:619980
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Cardiomyopathy, Stroke, Neutropenia, Failure to thrive, Pancr... ORPHA:79312
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Dilated cardiomyopathy, Elevated c... OMIM:618805
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Short stature, Microcephaly, Patent ductus arteriosus, Growth dela... OMIM:614886
Atelis Syndrome 1
Ventricular septal defect, Anemia, Leukopenia, Atrial septal defect, Dry skin, Thrombocytopenia OMIM:620184
Bleeding Disorder, Platelet-Type, 16
Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platel... OMIM:187800
Fanconi-Like Syndrome
Pancytopenia OMIM:227850
Evans Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... ORPHA:1959
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Epiphyseal dysplasia, Short stature, Eosinophilia,... ORPHA:353298
Adams-Oliver Syndrome 4
Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ... OMIM:615297
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Toe syndactyly, Short stature, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm,... OMIM:619657
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Bone marrow hypercellularity, Neutrophilia, Hepatomega... ORPHA:98849
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Pancytopenia, Short stature, Microcephaly, Micrognathia, Umbilical hernia ORPHA:85321
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Microcephaly, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, Abnorm... ORPHA:79282
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Renal artery aneurysm, Portal hyperten... OMIM:615688
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Pericard... ORPHA:77261
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Eosinophilia, Hepatitis, Dry skin, Weight loss, Failure to ... ORPHA:199299
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Pes planus, Overriding aorta, Bicuspid aortic valve, Failure to thrive in infancy, Ventricular se... ORPHA:477817
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short stature, Short femur, Mesoaxial hand polyd... OMIM:277170
Cyclic Vomiting Syndrome
Growth delay, Cardiomyopathy, Pallor, Microcephaly OMIM:500007
Stt3B-Cdg
Intrauterine growth retardation, Failure to thrive, Thrombocytopenia, Microcephaly ORPHA:370924
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Microcephaly, Palmoplantar hyperkeratosis, Hepatic fibrosis, Bone ... OMIM:224230
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Short stature, Microcephaly, Anemia, Excessive wrinkled skin, Bone... ORPHA:3322
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Hepatic steatosis, Pancytopenia, Short stature, Small for gestatio... OMIM:613658
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor, Failure to thrive ORPHA:99931
Desbuquois Syndrome
Severe short stature, Genu recurvatum, Ventricular septal defect, Camptodactyly of finger, Coxa v... ORPHA:1425
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Congenital Disorder Of Glycosylation, Type Ix
Intrauterine growth retardation, Failure to thrive, Thrombocytopenia, Microcephaly OMIM:615597
Catel-Manzke Syndrome
Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Short... OMIM:616145
Osteogenesis Imperfecta, Type X
Relative macrocephaly, Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micromel... OMIM:613848
Diamond-Blackfan Anemia 21
Hallux valgus, Pes planus, Short stature, Sandal gap, Micrognathia, Secundum atrial septal defect... OMIM:620072
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... ORPHA:331206
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Klippel-Trénaunay Syndrome
Hepatomegaly, Peripheral arteriovenous fistula, Microcytic anemia, Venous insufficiency, Lower li... ORPHA:90308
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Short stature, Ventricular septal defect, Postnatal growth retardation, Splenomegal... OMIM:620210
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Ventricular septa... OMIM:208085
Alg8-Cdg
Elevated hepatic transaminase, Small for gestational age, Cutis laxa, Anemia, Talipes equinovarus... ORPHA:79325
Fanconi Anemia, Complementation Group F
Short stature, Absent thumb, Microcephaly, Thrombocytopenia, Patent ductus arteriosus, Short thum... OMIM:603467
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:251100
Mirage Syndrome
Overlapping fingers, Short stature, Rocker bottom foot, Petechiae, Thrombocytopenia, Patent ductu... OMIM:617053
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Patellar hypoplasia, Facial erythema, Neutropenia, Short phalanx of finger, Genu... ORPHA:221016
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Short stature, Microcephaly, Scoliosis, Failure to thrive, Thrombocytopenia OMIM:616577
Degcags Syndrome
Micrognathia, Leukopenia, Iron deficiency anemia, Pallor, Atrial septal defect, Patent foramen ov... OMIM:619488
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Micr... ORPHA:263501
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H... OMIM:278000
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Peripheral Cone Dystrophy
Pallor OMIM:609021
Rothmund-Thomson Syndrome Type 1
Short metacarpal, Plantar hyperkeratosis, Aplastic anemia, Short stature, Small for gestational a... ORPHA:221008
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Short stature, Microcephaly, Hyperechogenic pancreas, Exocrine p... OMIM:617941
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Lambert Syndrome
Ventricular septal defect, Failure to thrive in infancy, Jaundice, Cholestasis, Branchial anomaly... ORPHA:1296
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Petechiae, Cardiomegaly, Micrognathia, Splenomegaly, Microcephaly, Hepatosplenomega... OMIM:608013
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Adams-Oliver Syndrome
Encephalocele, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Talipes, Po... ORPHA:974
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Normochromic anemia, Foam cells OMIM:245900
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... OMIM:217095
Congenital Heart Block
Pericardial effusion, Patent ductus arteriosus, Pallor, Endocardial fibroelastosis, Intrauterine ... ORPHA:60041
Pseudo-Torch Syndrome 1
Microretrognathia, Hepatomegaly, Elevated hepatic transaminase, Petechiae, Microcephaly, Splenome... OMIM:251290
Dk Phocomelia Syndrome
Phocomelia, Encephalocele, Thrombocytopenia OMIM:223340
Babesiosis
Hemolytic anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Leukopenia, Hepatic fai... ORPHA:108
Double Outlet Right Ventricle
Short stature, Ventricular septal defect, Tetralogy of Fallot, Double outlet right ventricle, Coa... ORPHA:3426
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count OMIM:618394
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Growth delay, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Short stature, Patent ductus arteriosus, Hand polydactyly, Pulmonic st... OMIM:249670
Filippi Syndrome
Ventricular septal defect, Microcephaly, Postnatal growth retardation, 2-4 toe syndactyly, Cutane... OMIM:272440
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Pancytopenia, Hepatic failure, Anemia OMIM:607426
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Reduced platelet ... OMIM:314050
Non-Involuting Congenital Hemangioma
Prominent superficial veins, Peripheral arteriovenous fistula, Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Large for gestational age, Pallor, Diffuse pancreatic islet hyperplasia, Hypertroph... ORPHA:276575
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Down Syndrome
Redundant neck skin, Short palm, Hypoplastic iliac wing, Atrial septal defect, Atrioventricular c... OMIM:190685
Malaria
Anemia, Thrombocytopenia ORPHA:673
Sonoda Syndrome
Ventricular septal defect, Short stature OMIM:270460
Fanconi Anemia, Complementation Group V
Short stature, Microcephaly, Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Specific Granule Deficiency 2
Absent neutrophil specific granules, Sandal gap, Bone marrow maturation arrest, Anemia, Neutropen... OMIM:617475
Aicardi-Goutieres Syndrome 5
Dry skin, Scaling skin, Thrombocytopenia, Microcephaly OMIM:612952
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Large for gestational age, Pallor, Diffuse pancreatic islet hyperplasia, Hypertroph... ORPHA:276556
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Dilation of Virchow-Robin spaces, Short stature, Microcephaly, Iron deficiency anem... OMIM:607906
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pyoderma gangrenosum, Acute lymphoblastic ... ORPHA:486
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Aplastic Anemia
Aplastic anemia, Bone marrow hypocellularity OMIM:609135
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Scoliosis, Intrauter... OMIM:616276
Atransferrinemia
Abnormality of the liver, Hypochromic anemia OMIM:209300
Arthrogryposis Multiplex Congenita 5
Normocytic anemia, Micrognathia, Acanthocytosis, Scoliosis, Hand clenching, Umbilical hernia, 11 ... OMIM:618947
8Q24.3 Microdeletion Syndrome
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Micromelia, Finger clinodactyly, ... ORPHA:508488
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Short stature, Microcytic anemia, Hepatosplenomegaly, Scoliosis, Macrocephaly OMIM:619750
Frank-Ter Haar Syndrome
Redundant neck skin, Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial sept... OMIM:249420
Distal Deletion 15Q
Bicuspid aortic valve, Micrognathia, 2-3 toe cutaneous syndactyly, Abnormal aortic arch morpholog... ORPHA:1596
Mitochondrial Dna Depletion Syndrome 18
Failure to thrive, Scoliosis, Microcytic anemia OMIM:618811
Optic Atrophy 1
Pallor OMIM:165500
Verheij Syndrome
Branchial cyst, Vertebral fusion, Short stature, Small for gestational age, Ventricular septal de... OMIM:615583
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Atrial septal defect, Clinodacty... OMIM:201000
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor, Anemia, Microcephaly OMIM:246450
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Coxa vara, Tibial bowing, Iron deficiency anemia, Hypoplastic iliac wing, Abnormal vertebral morp... ORPHA:93315
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Incre... ORPHA:905
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Short stature, Broad hallux, Overlapping toe, Microcytic anemia, Micrognathia, Microcephaly, Genu... ORPHA:293967
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Short stature, Failure to thrive in infancy, Microcepha... ORPHA:261323
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Micromelia, Finger joint hypermobility, Atrial septal defect, Patent foramen ovale, Microretrogna... OMIM:618870
Fetal Trimethadione Syndrome
Ventricular septal defect, Micrognathia, Microcephaly, Transposition of the great arteries, Scoli... ORPHA:1913
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Granulocytic hyperplasia, Anemia, Impaire... OMIM:226990
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Pallor, Hepatomegaly ORPHA:56425
Rapidly Involuting Congenital Hemangioma
Prominent superficial veins, Peripheral arteriovenous fistula, Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Heterotaxy, Visceral, 5, Autosomal
Absence of the sacrum, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia,... OMIM:270100
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Large for gestational age, Pallor, Diffuse pancreatic islet hyperplasia, Hypertroph... ORPHA:276580
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin... OMIM:612714
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Ventricular septal defect, Microcephaly, Genu valgum, Growth delay, Macrocephaly OMIM:617798
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... OMIM:601859
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect, Short stature, Fifth finger distal phalanx clinodactyly, Small for ges... ORPHA:3369
Sepsis In Premature Infants
Hepatomegaly, Small for gestational age, Petechiae, Splenomegaly, Leukocytosis, Jaundice, Anemia,... ORPHA:90051
Maternal Phenylketonuria
Ventricular septal defect, Micrognathia, Bifid distal phalanx of the thumb, Microcephaly, Clinoda... ORPHA:2209
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Short stature, Micrognathia, Microcephaly, Vertebral segmentation defe... ORPHA:1166
Autosomal Erythropoietic Protoporphyria
Microcytic anemia, Erythema, Decreased liver function, Cirrhosis, Cholelithiasis ORPHA:79278
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia OMIM:246400
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d... ORPHA:158048
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Postaxial hand polydactyly,... OMIM:615630
Moyamoya Disease With Early-Onset Achalasia
Abnormal cerebral vascular morphology, Abnormal platelet aggregation, Stroke, Thrombocytopenia, M... ORPHA:401945
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutropenia, Overlapping f... OMIM:616738
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Patent ductus arteriosus, Anemia, Hepatomegaly ORPHA:2123
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... OMIM:614876
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Short humerus, Hepatic steatosis, Short femur, Hepatomegaly, Micro... ORPHA:17
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P... OMIM:612541
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Abnormal hand morphology, Osteolysis involving ... ORPHA:371428
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Pes planus, Short femur, Short stature, Talipes, Micrognathia, Patent ductus arteriosus, Elliptoc... OMIM:300990
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Atrial situs ambiguous, Asplenia, Situs inversus totalis, Clubbing, ... ORPHA:244
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Pet... OMIM:300367
Intellectual Developmental Disorder, Autosomal Recessive 73
Pes planus, Ventricular septal defect, Patent ductus arteriosus, Scoliosis, Clinodactyly of the 5... OMIM:619717
Immunodeficiency 46
Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Splenomegaly, Microcytic anemia OMIM:618852
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Elevated hepatic transaminase, Pancytopenia, Pericardial effusion,... ORPHA:167
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Microcephaly, Leukocytosis, Dila... ORPHA:20
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Short stature, Petechiae, Microcephaly, Splenomegaly... OMIM:225750
Hadziselimovic Syndrome
Ventricular hypertrophy, Short stature, Ventricular septal defect, Microcephaly, Tetralogy of Fal... OMIM:612946
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Short metacarpal, Short humerus, Short stature, Megakaryocyte dyspl... ORPHA:508542
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Polycythemia Vera
Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell m... OMIM:263300
Acute Monoblastic/Monocytic Leukemia
Bone marrow hypercellularity, Acute monocytic leukemia, Ankle swelling, Leukocytosis, Weight loss... ORPHA:514
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Bowing of the long bones, Short stature, Postnatal growth retardation, Metaphyseal sclerosis, Gen... OMIM:612199
Yuan-Harel-Lupski Syndrome
Pes planus, Ventricular septal defect, Bicuspid aortic valve, Sandal gap, Talipes equinovalgus, A... OMIM:616652
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, My... ORPHA:210136
8P23.1 Microdeletion Syndrome
Proximal placement of thumb, Micrognathia, Biparietal narrowing, Atrioventricular canal defect, B... ORPHA:251071
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... OMIM:601775
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Postnatal growth retardation, Metaphyseal w... OMIM:608940
X-Linked Intellectual Disability, Nascimento Type
Pes cavus, Ventricular septal defect, Overlapping toe, Patent ductus arteriosus, Double outlet ri... ORPHA:163956
X-Linked Agammaglobulinemia
Short stature, Hepatitis, Skin ulcer, Weight loss, Anemia, Neutropenia, Failure to thrive, Thromb... ORPHA:47
Lathosterolosis
Hepatomegaly, Toe syndactyly, Talipes, Micrognathia, Microcephaly, Intrahepatic cholestasis, Post... ORPHA:46059
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Megakaryocyte dysplasia, Giant platelets, Macrothrombocytopenia, Neut... OMIM:155100
Prolidase Deficiency
Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Micrognat... OMIM:170100
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Ventricular septal defect, Pos... OMIM:614815
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Microcephaly, Megaloblastic anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:277400
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy, Pallor OMIM:612989
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short stature, Aplasia of the thymus, Kyphosis, Patent ductus arteriosus, Hemivertebrae, T lympho... OMIM:618223
Immunodeficiency 54
Hepatomegaly, Failure to thrive, Short stature, Microcephaly, Postnatal growth retardation, Splen... OMIM:609981
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Obstruction... ORPHA:99867
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Pancreatic islet-cell hyperplasia, Increased body weight ORPHA:276608
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Eosinophilia, Autoimmune thrombocytopenia, ... OMIM:603909
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Short stature, Failure to thrive in... OMIM:610377
Protoporphyria, Erythropoietic, 2
Iron deficiency anemia OMIM:618015
Bardet-Biedl Syndrome 19
Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos... OMIM:615996
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Small for gestational age, Pallor, Large for gestational age ORPHA:324575
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Kyphoscoliosis, Tapered finger, Postnatal growth retardation, Absent f... OMIM:301040
Congenital Disorder Of Glycosylation, Type Iq
Elevated hepatic transaminase, Failure to thrive, Microcytic anemia, Cutis laxa, Dry skin OMIM:612379
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... OMIM:619767
C Syndrome
Hepatomegaly, Short metacarpal, Toe syndactyly, Ventricular septal defect, Short stature, Microme... OMIM:211750
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma... OMIM:127550
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Brachydactyly, Thoracic scoliosis, Small... ORPHA:2959
Lesch-Nyhan Syndrome
Short stature, Podagra, Hip dislocation, Megaloblastic anemia OMIM:300322
Holt-Oram Syndrome
Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o... ORPHA:392
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Clinodactyly, Double outlet right ... OMIM:618164
Tufted Angioma
Megakaryocytopenia, Petechiae, Thrombocytopenia, Anemia, Purpura ORPHA:1063
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Microcephaly, Asplenia, Situs inversus totalis, Atrioventricular canal defect, Left... OMIM:605376
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... OMIM:602080
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Hyperparathyroidism, Transient Neonatal
Short femur, Metaphyseal spurs, Patent ductus arteriosus, Femoral bowing, Short long bone, Stroke... OMIM:618188
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Hypoplastic right heart, Ventricular septal defect, Overlapping toe, Microgn... OMIM:618142
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Hepatosplenomegaly, Anemia, Erlenmeyer flask deformity o... ORPHA:210110
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Abnormal coronary artery morphology, Small... ORPHA:860
Thrombocytopenia 5
Petechiae, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... OMIM:616216
Rothmund-Thomson Syndrome
Hypoplasia of the ulna, Broad ulna, Plantar hyperkeratosis, Aplastic anemia, Short stature, Small... ORPHA:2909
Rhabdoid Tumor
Neoplasm of the liver, Thrombocytopenia, Anemia, Weight loss ORPHA:69077
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Cholangitis, Intracranial hemorrhage, Pallor, Neutrophilia, Ankle swelling, Leukoc... ORPHA:3260
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:613101
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Short stature, Micrognathia, Anemia, Leukopenia, Elliptocytosis, Bone... ORPHA:2785
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... ORPHA:64743
Nemaline Myopathy 9
Ventricular septal defect, Scoliosis, Micrognathia OMIM:615731
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Ventricular septal defect, Overweight, Patent ductus arteriosus, Persistence of hemoglobin F, Mac... OMIM:619769
Noonan Syndrome 4
Short stature, Ventricular septal defect, Large for gestational age, Pulmonic stenosis, Macroceph... OMIM:610733
Griscelli Syndrome
Encephalocele, Hepatomegaly, Short stature, Abnormality of neutrophils, Splenomegaly, Jaundice, H... ORPHA:381
Saul-Wilson Syndrome
Enlarged epiphyses, Prominent superficial veins, Short metacarpal, Short stature, Pseudoepiphyses... OMIM:618150
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fingers, Postnat... OMIM:612394
Gaucher Disease
Hepatomegaly, Pancytopenia, Mitral valve calcification, Short stature, Abnormal pericardium morph... ORPHA:355
Recon Progeroid Syndrome
Short stature, Arachnodactyly, Proximal placement of thumb, Microcephaly, Growth delay, Anemia, S... OMIM:620370
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Large for gestational age, Palmoplantar hyperkeratosis, Clinodactyly of the 5th finger, Hepatomeg... OMIM:280000
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Myelomenin... ORPHA:2876
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Micrognathia, Microcephaly, Abnormal aortic morphology, Intrauterine g... ORPHA:2516
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Pancytopenia, Dilated cardiomyopathy, Erythema OMIM:618321
Fanconi Anemia
Micrognathia, Abnormal femur morphology, Leukopenia, Abnormality of the liver, Triphalangeal thum... ORPHA:84
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Elliptocytosis 1
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor OMIM:611804
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Isolated Sedoheptulokinase Deficiency
Short stature, Portal hypertension, Hepatitis, Hypochromic microcytic anemia, Cholestasis, Severe... ORPHA:440713
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Pes planus, Absent gallbladder, Short stature,... ORPHA:163979
Anemia, Congenital Dyserythropoietic, Type Iiia
Macrocytic anemia, Jaundice, Anemia of inadequate production, Congenital hypoplastic anemia OMIM:105600
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Microcephaly, Splenomegaly, Mic... OMIM:251880
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Toe syndactyly, Short stature, Ventricular septal defect... ORPHA:505237
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Stroke, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Mccune-Albright Syndrome
Pancytopenia, Hepatitis, Abnormal femur morphology, Cholestasis, Hepatocellular adenoma, Bone mar... ORPHA:562
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Leukopenia, Aplasia... ORPHA:227990
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Short stature, Ventricular septal defect, Overlapping toe, Tapered finger, Down-sloping shoulders... OMIM:617452
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... OMIM:223800
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Smith-Kingsmore Syndrome
Rhizomelia, Large for gestational age, Short proximal phalanx of finger, Deep plantar creases, Ma... OMIM:616638
Sengers Syndrome
Growth delay, Hypertrophic cardiomyopathy, Thrombocytopenia OMIM:212350
Desbuquois Dysplasia 2
Metaphyseal widening, Knee dislocation, Short phalanx of finger, Genu varum, Short metacarpal, Lu... OMIM:615777
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Increased mean corpuscular volume, Megaloblastic anemia OMIM:277410
Short Stature-Micrognathia Syndrome
Rhizomelia, Short stature, Ventricular septal defect, Micrognathia, Bowing of the legs, Coxa valg... OMIM:617164
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Umbilica... OMIM:614520
Spondyloepimetaphyseal Dysplasia, Shohat Type
Micromelia, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch, Vertebral h... OMIM:602557
Majeed Syndrome
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic mi... ORPHA:77297
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Alpha-Mannosidosis, Adult Form
Pancytopenia, Hepatosplenomegaly ORPHA:309288
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Leukopenia, Aplasia... ORPHA:227982
Martin-Probst Syndrome
Pancytopenia, Short stature, Microcephaly, Micrognathia, Umbilical hernia OMIM:300519
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Microcephaly, Splenomegaly, Patent ductus arteriosus, Metaphyseal widening, Clubbin... OMIM:617303
Fetal Minoxidil Syndrome
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect, Micrognathia ORPHA:1918
Brachydactyly, Type B1
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect... OMIM:113000
Tricuspid Atresia
Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao... ORPHA:1209
Mmep Syndrome
Split foot, Ventricular septal defect, Triphalangeal thumb, Microcephaly ORPHA:3434
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Clubbing, Growth delay, Iron deficiency anemia, Clubbing of fingers, Thrombocytosis... OMIM:226300
Fumarase Deficiency
Relative macrocephaly, Microcephaly, Intrahepatic cholestasis, Perimembranous ventricular septal ... OMIM:606812
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Micromelia, Microcephaly, Hypoplastic left heart, Disproportionate sho... ORPHA:2772
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Braddock-Carey Syndrome 2
Megakaryocytopenia, Clinodactyly, Thrombocytopenia, Microcephaly OMIM:619981
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Atrial septal defect, Patent foramen ov... OMIM:620005
Alg12-Cdg
Redundant skin, Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Patent... ORPHA:79324
Insulin-Like Growth Factor I, Resistance To
Severe short stature, Short stature, Ventricular septal defect, Sandal gap, Micrognathia, Microce... OMIM:270450
Immunodeficiency 91 And Hyperinflammation
Megakaryocytopenia, Acute hepatic failure, Hepatomegaly, Neutrophilia, Elevated hepatic transamin... OMIM:619644
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Genu valgum, Hepatosplenomegaly, Cortical thickening of long bone diaphyses, Macroc... ORPHA:309282
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Vasculitis, Pedal edem... ORPHA:33226
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Short stature, Small for gestational age, Overlapping toe, Microcytic... ORPHA:99843
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Growth delay, B lymphocyt... OMIM:301078
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Ventricular sep... ORPHA:1908
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul... OMIM:300972
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis OMIM:300752
Ivic Syndrome
Severe short stature, Aplastic clavicle, Preaxial hand polydactyly, Leukocytosis, Hypoplasia of t... ORPHA:2307
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphology, Abnormal humer... ORPHA:464329
Retinitis Pigmentosa 51
Pallor, Polydactyly, Obesity OMIM:613464
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Cerebral hemorrhage, Microcephaly, Secund... OMIM:617397
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Short stature, Microcephaly, Thrombocytopenia, Leukopenia, ... OMIM:305000
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Elevated circulating alan... OMIM:611881
Dyskeratosis Congenita, Autosomal Recessive 3
Pancytopenia, Bone marrow hypocellularity OMIM:613988
3C Syndrome
Micrognathia, Hemivertebrae, Abnormal tricuspid valve morphology, Atrial septal defect, Atriovent... ORPHA:7
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect, Scoliosis, Micrognathia OMIM:608227
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect, Microcephaly OMIM:614249
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Noonan Syndrome 8
Relative macrocephaly, Short stature, Left ventricular hypertrophy, Ventricular septal defect, La... OMIM:615355
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Anemia, Cholestat... ORPHA:540
Vascular Malformation, Primary Intraosseous
Umbilical hernia, Hypochromic anemia OMIM:606893
16P13.11 Microduplication Syndrome
Pes planus, Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Tr... ORPHA:261243
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morphology, Splenomegaly, Pulmon... ORPHA:667
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Pallor ORPHA:90037
Farber Disease
Elevated hepatic transaminase, Abnormality of the knee, Short stature, CNS foam cells, Intrahepat... ORPHA:333
Alagille Syndrome
Hypoplasia of the ulna, Hepatomegaly, Ventricular septal defect, Butterfly vertebral arch, Microg... ORPHA:52
Dilated Cardiomyopathy With Ataxia
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Muscular ventricular septal defe... ORPHA:66634
Li-Campeau Syndrome
Short stature, Ventricular septal defect, Patent ductus arteriosus, Patellar hypoplasia, Atrial s... OMIM:619189
Congenital Disorder Of Glycosylation, Type Iif
Microcephaly, Macrothrombocytopenia, Neutropenia, Clinodactyly, Decreased platelet glycoprotein I... OMIM:603585
Felty Syndrome
Hepatomegaly, Pericarditis, Splenomegaly, Weight loss, Anemia, Bone marrow hypocellularity, Neutr... ORPHA:47612
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Short stature, Hypochromic microcytic anemia, Secondary microcephaly, Failure to th... OMIM:619423
Thrombocytopenia, Paris-Trousseau Type
Clinodactyly, Radial deviation of finger, Thrombocytopenia, Micrognathia OMIM:188025
Ritscher-Schinzel Syndrome 2
Relative macrocephaly, Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hal... OMIM:300963
Dubowitz Syndrome
Aplasia/Hypoplasia of the thumb, Abnormality of neutrophils, Micrognathia, Abnormality of thumb p... ORPHA:235
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Secundum atrial septal defect, Hypoplasia of the thymus, Genu varum, Long toe, Shor... OMIM:264090
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Growth delay, Methemoglobinemia, Polycythemia, Microcephaly OMIM:250800
Combined Oxidative Phosphorylation Deficiency 14
Microcephaly, Copper accumulation in liver, Growth delay, Anemia, Elevated hepatic iron concentra... OMIM:614946
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia OMIM:616959
Syndromic Diarrhea
Bicuspid aortic valve, Abnormality of the liver, Hypoplasia of the thymus, Hepatic fibrosis, Hepa... ORPHA:84064
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Intellectual Developmental Disorder, Autosomal Recessive 79
Pes planus, Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of the 5th finger... OMIM:620393
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia, Microcephaly ORPHA:621
American Trypanosomiasis
Hepatomegaly, Myocarditis, Splenomegaly, Cardiomyopathy, Pallor ORPHA:3386
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 2nd finger, Short stature, Ventricular septal defect, Broad hallux, Sandal gap, Secundum at... OMIM:600987
Plummer-Vinson Syndrome
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia ORPHA:54028
Microphthalmia, Syndromic 9
Severe short stature, Short stature, Truncus arteriosus, Ventricular septal defect, Micrognathia,... OMIM:601186
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Bowing of the long bones, Ventricular septal defect, Rhizomelia, Proximal placement of thumb, Mic... ORPHA:93267
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Myelofibrosis, Diaphyseal dysplasia, Leukopenia, Bone marrow hypocellularity, ... OMIM:231095
Pyridoxal Phosphate-Responsive Seizures
Pyridoxine-responsive sideroblastic anemia, Failure to thrive, Microcephaly ORPHA:79096
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Small for gestational age, Failure to thrive, Short stature, Microcytic anemia OMIM:612073
Srd5A3-Cdg
Elevated hepatic transaminase, Kyphosis, Palmoplantar keratoderma, Microcytic anemia ORPHA:324737
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Short stature, Anterior concavity of thoracic vertebrae, Microcephaly, Micrognathia, Persistence ... OMIM:617101
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Cerebellar hemorrhage, Leukopenia, Cardiomyopathy, Neutropenia, Failure to thrive, ... OMIM:251000
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Toe clinodactyly ORPHA:261120
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect, Small for gestational age, Microcephaly, Scoliosis, Intrauterine growt... OMIM:617635
Zika Virus Disease
Intrauterine growth retardation, Ankle swelling, Thrombocytopenia, Microcephaly ORPHA:448237
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor ORPHA:90033
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Subarachnoid hemorrhage, Asplenia, Thrombocytopenia, Stroke-l... OMIM:185070
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Jacobsen Syndrome
Abnormal form of the vertebral bodies, Long hallux, Broad hallux phalanx, Finger syndactyly, Shor... ORPHA:2308
Dravet Syndrome
Pes planus, Pallor, Pes valgus, Limited knee extension, Tibial torsion ORPHA:33069
Dubowitz Syndrome
Syndactyly, Pes planus, Aplastic anemia, Short stature, Micrognathia, Postnatal growth retardatio... OMIM:223370
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... OMIM:301068
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Microcephaly, Splenomegaly, Jaundice, Neutropenia in... ORPHA:525731
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Congenital hip dislocation, Ventricular septal defect, Toe syndactyly, Cachexi... ORPHA:217346
Cohen Syndrome
Finger syndactyly, Short stature, Failure to thrive in infancy, Ventricular septal defect, Microg... ORPHA:193
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Broad hallux, Ventricular septal defect, Micrognathia, Clinodactyly of the 2nd ... OMIM:620073
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short palm, Neonatal death, Patent foramen ovale, Hepatomegaly, Patent ductus... OMIM:269860
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Small for gestational age, Short stature, Ventricular septal defect, Atrial septal... OMIM:614261
Codas Syndrome
Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Short stature, Extrahepa... ORPHA:1458
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Hepatomegaly, Ventricular septal defect, Secondary microcephaly OMIM:613730
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Proximal placement of thumb, Micrognathia, Kyphosis, Dilated cardiomyo... ORPHA:261250
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Micrognathia, Kyphosis, Increased femoral antev... OMIM:619005
Myelofibrosis
Myelofibrosis, Splenomegaly, Pallor, Myeloproliferative disorder, Purpura OMIM:254450
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Bone marrow maturation arrest, Micrognathia, Microcephaly, Growth delay, Leukopenia, ... OMIM:616271
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Micrognathia, Postnatal growth retardation, Microcephaly, Patent ductus ar... ORPHA:2306
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Petechiae ORPHA:158029
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Ventricular septal defect, Progressive macrocephaly, Polydactyly, Leukemia OMIM:602501
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric... ORPHA:781
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Ventricular septal defect, Small for gestational age, Equinovarus def... ORPHA:3078
Trigonocephaly With Short Stature And Developmental Delay
Small for gestational age, Ventricular septal defect, Short stature, Clinodactyly of the 5th finger OMIM:314320
Adams-Oliver Syndrome 6
Syndactyly, Ventricular septal defect, Portal hypertension, Splenomegaly, Foot oligodactyly, Hepa... OMIM:616589
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Microphthalmia, Syndromic 12
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Micrognathia OMIM:615524
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Anemia, Coombs-positive hemolytic anemia, N... OMIM:304790
Drug-Induced Lupus Erythematosus
Pericarditis, Petechiae, Pericardial effusion, Anemia, Thrombocytopenia ORPHA:231111
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Clinodactyly, Failure to thrive, Decreased proportion... OMIM:618048
Congenital Enterovirus Infection
Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosis, Hepatitis, Chole... ORPHA:292
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Increased RBC distribution width, Petechiae, Macrothrombocytopenia, Absence of alp... OMIM:187900
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Micrognathia, Ascending ao... OMIM:619503
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Beta-Ketothiolase Deficiency
Hepatomegaly, Leukocytosis, Weight loss, Pallor, Thrombocytosis ORPHA:134
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Sandal gap, Microcephaly, Kyphosi... ORPHA:254346
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Micrognathia, Right ventricular dilatation, Atri... OMIM:619472
Warsaw Breakage Syndrome
Ventricular septal defect, Microcephaly, Postnatal growth retardation, 2-3 toe syndactyly, Clinod... OMIM:613398
Osteogenesis Imperfecta
Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology... ORPHA:666
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Short stature, Postaxial polydactyly, Pancreatic fibrosis,... OMIM:615503
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Thrombocytopenia, Moyamoya phenomenon OMIM:615750
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Increased body weight, Pa... ORPHA:263455
Blue Rubber Bleb Nevus
Arteriovenous malformation, Microcytic anemia ORPHA:1059
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Rhizomelia, Micrognathia, Microcephaly, Disproportionate short stature, Tetralogy ... OMIM:222765
Kearns-Sayre Syndrome
Sideroblastic anemia, Microcephaly, Short stature, Cardiomyopathy OMIM:530000
Non-Functioning Paraganglioma
Pallor, Cerebral hemorrhage, Weight loss ORPHA:94080
Intellectual Developmental Disorder, Autosomal Dominant 48
Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Umbilic... OMIM:617751
Mosaic Trisomy 9
Micromelia, Micrognathia, Asplenia, Hemivertebrae, Finger clinodactyly, Biparietal narrowing, End... ORPHA:99776
Pulmonary Hemosiderosis
Iron deficiency anemia OMIM:178550
Cardiofaciocutaneous Syndrome 3
Short stature, Ventricular septal defect, Pulmonic stenosis, Scoliosis, Atrial septal defect, Hyp... OMIM:615279
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Intrauterine growth retardation, Thrombocytopenia, Cardiomyopathy OMIM:617710
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Pericarditis, Leukopenia OMIM:152700
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Pyoderma gangrenosum, Thrombocytopenia OMIM:616576
Congenital Disorder Of Glycosylation, Type Iit
Sandal gap, Short stature, Microcephaly, Small hand, Short foot, Iron deficiency anemia OMIM:618885
Gm1 Gangliosidosis
Abnormal form of the vertebral bodies, Cherry red spot of the macula, Short stature, Hyperlordosi... ORPHA:354
Catastrophic Antiphospholipid Syndrome
Abnormal heart valve morphology, Transient ischemic attack, Myocarditis, Skin ulcer, Retinal arte... ORPHA:464343
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Atrial septal defect, Contracture of the proximal interphalangeal j... OMIM:300166
Jansen-De Vries Syndrome
Bicuspid aortic valve, Ventricular septal defect, Short stature, Hyperlordosis, Small hand, Short... OMIM:617450
Barth Syndrome
Cyclic neutropenia, Dilated cardiomyopathy, Hypochromic microcytic anemia, Growth delay, Endocard... OMIM:302060
Kallmann Syndrome-Heart Disease Syndrome
Short stature, Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardio... ORPHA:2326
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Pallor ORPHA:90036
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Immune Thrombocytopenia
Cerebral hemorrhage, Petechiae, Thrombocytopenia, Purpura ORPHA:3002
Developmental And Epileptic Encephalopathy 66
Ventricular septal defect, Dextrocardia, Clinodactyly of the 5th finger, Neutropenia, Atrial sept... OMIM:618067
22Q11.2 Duplication Syndrome
Ventricular septal defect, Micrognathia, Microcephaly, Growth delay, Hypoplastic left heart, Tran... ORPHA:1727
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ... OMIM:210720
Wiedemann-Rautenstrauch Syndrome
Congenital malformation of the left heart, Hypoplastic vertebral bodies, Hepatic steatosis, Long ... ORPHA:3455
Dermatitis Herpetiformis
Skin vesicle, Erythema, Microcytic anemia ORPHA:1656
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Slc35A1-Cdg
Giant platelets, Abnormal megakaryocyte morphology, Neutropenia, Abnormal platelet granules, Thro... ORPHA:238459
Giant Cell Arteritis
Pericarditis, Abnormality of thrombocytes, Vasculitis, Skin ulcer, Weight loss, Aortic dissection... ORPHA:397
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:616433
Boutonneuse Fever
Elevated hepatic transaminase, Thrombocytopenia, Vasculitis, Abnormality of the plantar skin of f... ORPHA:83313
Chromosome 5Q12 Deletion Syndrome
Long toe, Ventricular septal defect, Micrognathia, Postnatal growth retardation, Long fingers, Pa... OMIM:615668
De Barsy Syndrome
Dermal translucency, Congenital hip dislocation, Short stature, Ventricular septal defect, Kyphos... ORPHA:2962
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Small for gestational age, Microcephaly, Hypochromic microcytic anemia, Growth delay, Failure to ... OMIM:619147
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... ORPHA:3103
Sitosterolemia 1
Reticulocytosis, Carotid artery stenosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomat... OMIM:210250
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Pes planus, Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Slender finger, Paten... ORPHA:329224
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Myocarditis, Erythema, Endocarditis, Abnormal aort... ORPHA:3099
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Large for gestational... ORPHA:363705
Macrophage Activation Syndrome
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... ORPHA:158061
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Microcephaly, Patent ductus arteriosus, Abnorma... ORPHA:500159
Ververi-Brady Syndrome
Short stature, Microcephaly, Transposition of the great arteries, Scoliosis, Clinodactyly of the ... OMIM:617982
19P13.3 Microduplication Syndrome
Ventricular septal defect, Kyphoscoliosis, Micrognathia, Microcephaly, Long fingers, Hip dislocat... ORPHA:447980
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Clinodactyly of the 5th finger, Ventricular septal defect, Rocker bottom foot, Microcephaly OMIM:618506
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Hypochromic anemia, Microcytic anemia OMIM:618451
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function ORPHA:306550
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Ogden Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Redundant skin, Redundant neck skin, Cardiomeg... OMIM:300855
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Overlapping fingers, Cardiomegal... OMIM:617022
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... ORPHA:2839
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Ventricular septal defect, Microcephaly, Postaxial hand ... OMIM:611134
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Micrognathia, Knee flexion contracture, Atrial septal defect, Arachnodacty... OMIM:121050
Trichohepatoenteric Syndrome 1
Hepatomegaly, Thrombocytosis, Short stature, Increased mean platelet volume, Small for gestationa... OMIM:222470
Acquired Purpura Fulminans
Pyoderma gangrenosum, Intracranial hemorrhage, Macular purpura, Hepatic failure, Thrombocytopenia ORPHA:49566
Addison Disease
Normocytic anemia, Thiamine-responsive megaloblastic anemia, Dry skin, Weight loss, Delayed puber... ORPHA:85138
Jacobsen Syndrome
Ventricular septal defect, Micrognathia, Missing ribs, Microcephaly, Clinodactyly of the 5th fing... OMIM:147791
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Growth delay, ... OMIM:616084
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Thoracic scoliosis,... OMIM:142900
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Pyoderma gangrenosum, B lymp... OMIM:150550
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Microcephaly, 2-3 toe syndactyly, Growth delay, Talipes equinovarus, C... ORPHA:3306
Weill-Marchesani Syndrome
Ventricular septal defect, Short stature, Short thumb, Pulmonic stenosis, Aortic valve stenosis, ... ORPHA:3449
8P23.1 Duplication Syndrome
Toe syndactyly, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Filippi Syndrome
Enlarged epiphyses, Finger syndactyly, Severe short stature, Ventricular septal defect, Short sta... ORPHA:3255
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
King-Denborough Syndrome
Lumbar hyperlordosis, Ventricular septal defect, Short stature, Kyphoscoliosis, Thoracic kyphosis... OMIM:619542
Senior-Loken Syndrome 8
Vascular dilatation, Pancreatic cysts, Polydactyly, Pallor, Intrahepatic bile duct dilatation, He... OMIM:616307
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Petechiae, Increased mean platelet volume, Impaired ristocetin-induced platelet... OMIM:153670
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Short stature, Prolonged neonatal jaundice, Severe failure to thrive, Intrauterine growth retarda... ORPHA:423479
Myopathy With Extrapyramidal Signs
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Microcephaly, Splenomegal... OMIM:615673
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect, Scoliosis, Microcephaly ORPHA:357225
Charge Syndrome
Micrognathia, Secundum atrial septal defect, Hemivertebrae, Hand monodactyly, Atrial septal defec... OMIM:214800
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Talipes equinovarus, Cardiomegaly OMIM:620306
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Polysyndactyly With Cardiac Malformation
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... OMIM:263630
Myopathy, Mitochondrial, And Ataxia
Short stature, Micrognathia, Growth delay, Pallor, Scoliosis, Pes cavus OMIM:617675
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Pes planus, Hepatomegaly, Ventricular septal defect, Elevated circ... OMIM:619525
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Ankle clonus, Scleros... OMIM:308230
Esophageal Atresia
Small for gestational age, Failure to thrive in infancy, Ventricular septal defect, Coarctation o... ORPHA:1199
Lambotte Syndrome
Intrauterine growth retardation, Ventricular septal defect, Preaxial foot polydactyly, Microcephaly OMIM:245552
Cranioacrofacial Syndrome
Abnormal hand morphology, Ventricular septal defect, Pulmonic stenosis OMIM:122850
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Short stature, Abnormality of neutrophils, Thrombocytopen... ORPHA:1775
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Pancytopenia, Neutrophilia, Acute pancreatitis, Pericardial effusion, Splenomegaly,... ORPHA:99827
Sifrim-Hitz-Weiss Syndrome
Short stature, Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Flat acetabul... OMIM:617159
Brachytelephalangic Chondrodysplasia Punctata
Butterfly vertebrae, Ventricular septal defect, Calcaneal epiphyseal stippling, Proportionate sho... ORPHA:79345
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Bicuspid aortic valve, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal os... OMIM:271640
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Postaxial hand polydactyly, Abnormal cardiac septum morphology, Ventricular septal defect, Macroc... ORPHA:83473
Emanuel Syndrome
Congenital hip dislocation, Truncus arteriosus, Ventricular septal defect, Micrognathia, Microcep... OMIM:609029
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Dilated cardiomyopathy, Stroke, ... OMIM:611126
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ventricular septal defect, Small for gestational age, Talipes, Microcephaly, Limb undergrowth, In... ORPHA:79243
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Patent ductus arteriosus, Drumstick terminal phalanges, Umbilical hern... OMIM:612938
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Hypochromic microcytic anemia OMIM:301310
Dysosteosclerosis
Ventricular septal defect, Short stature, Hypoplastic vertebral bodies, Irregular vertebral endpl... ORPHA:1782
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul... OMIM:617201
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect, Microcephaly, Micrognathia, Scoliosis, Macrocephaly ORPHA:398156
Revesz Syndrome
Intrauterine growth retardation, Aplastic anemia, Bone marrow hypocellularity OMIM:268130
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
Holocarboxylase Synthetase Deficiency
Growth delay, Thrombocytopenia, Weight loss ORPHA:79242
Diabetic Embryopathy
Ventricular septal defect, Micrognathia, Microcephaly, Abnormality of the pancreas, Spinal dysrap... ORPHA:1926
Histiocytosis-Lymphadenopathy Plus Syndrome
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H... OMIM:602782
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Nodular regenerative hyperplasia of liver, Avascular necrosis of the capital f... ORPHA:247691
Emanuel Syndrome
Congenital hip dislocation, Truncus arteriosus, Ventricular septal defect, Redundant neck skin, M... ORPHA:96170
Meacham Syndrome
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... OMIM:608978
Xk Aprosencephaly Syndrome
Atrial septal defect, Abnormal morphology of the radius, Ventricular septal defect, Microcephaly ORPHA:3469
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... OMIM:603554
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Short stature OMIM:618330
Takenouchi-Kosaki Syndrome
Overlapping toe, Increased mean platelet volume, Proximal placement of thumb, Tapered finger, Pat... OMIM:616737
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the f... ORPHA:2256
Snakebite Envenomation
Erythema, Intracranial hemorrhage, Stroke, Ecchymosis, Thrombocytopenia ORPHA:449285
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Microretrognathia, Hepatomegaly, Failure to thrive in infancy, Ventricular sept... OMIM:619418
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Hand polydactyly, Transp... OMIM:314390
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Ulnar deviation of the hand, Short stature, Ventricular septal defect, Proximal placement of thum... OMIM:620113
Hamamy Syndrome
Long toe, Syndactyly, Down-sloping shoulders, Micrognathia, Microcytic anemia, Complete atriovent... OMIM:611174
Maternal Uniparental Disomy Of Chromosome 6
Intrauterine growth retardation, Slender long bone, Thrombocytopenia ORPHA:96181
Koolen-De Vries Syndrome
Prominent fingertip pads, Vertebral fusion, Small for gestational age, Short stature, Bicuspid ao... OMIM:610443
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Microcephaly, Hydranencephaly, Truncus arteriosus, Short distal phalan... OMIM:601355
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Splenomegaly, Abnormal erythrocy... ORPHA:288
Dengue Fever
Hepatomegaly, Cerebral hemorrhage, Thrombocytopenia, Leukopenia, Petechiae ORPHA:99828
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
11 pairs of ribs, Short stature, Sandal gap, Short toe, Perimembranous ventricular septal defect,... OMIM:617877
15Q14 Microdeletion Syndrome
Ventricular septal defect, Short stature, Microcephaly, Kyphosis, Biparietal narrowing, Scoliosis... ORPHA:261190
Relapsing Fever
Elevated hepatic transaminase, Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thromboc... ORPHA:91547
Chromosome 18Q Deletion Syndrome
Proximal placement of thumb, Atrial septal defect, Dysplastic aortic valve, Short stature, Patent... OMIM:601808
Acatalasemia
Arteriosclerosis, Microcytic anemia ORPHA:926
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Microretrognathia, Dilation of Virchow-Robin spaces, Short stature, Ventricular septal defect, Co... OMIM:300998
Incontinentia Pigmenti
Short stature, Eosinophilia, Kyphoscoliosis, Microcephaly, Leukocytosis, Erythema, Hemivertebrae,... OMIM:308300
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Lymphopenia, Hepatomegaly, Splenomegaly, Anemia, Finger swelling, ... OMIM:617591
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Cerebellar hemorrhage, Dilated cardiomyopat... ORPHA:99901
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
2Q31.1 Microdeletion Syndrome
Micrognathia, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly ... ORPHA:251014
Tularemia
Thrombocytopenia, Leukocytosis, Anemia ORPHA:3392
Autosomal Dominant Hypophosphatemic Rickets
Growth delay, Iron deficiency anemia, Bowing of the legs ORPHA:89937
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Atelis Syndrome 2
Pes planus, Micrognathia, Microcephaly, Kyphosis, Patent ductus arteriosus, Supravalvar pulmonary... OMIM:620185
Bohring-Opitz Syndrome
Syndactyly, Short stature, Ventricular septal defect, Overlapping toe, Mesomelic/rhizomelic limb ... OMIM:605039
Congenital Heart Defects And Skeletal Malformations Syndrome
Pes planus, Short stature, Ventricular septal defect, Arachnodactyly, Sandal gap, Kyphosis, Coarc... OMIM:617602
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Costello Syndrome
Ventricular septal defect, Short stature, Failure to thrive in infancy, Redundant skin, Lack of s... ORPHA:3071
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia ORPHA:3405
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Redundant neck skin, Large for gestational age, Micrognathia, Hemivertebrae, Abnormal aortic arch... ORPHA:96334
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Mic... OMIM:613404
Distal 22Q11.2 Microdeletion Syndrome
Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Branchial fistula, Short statur... ORPHA:261330
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Patent duc... OMIM:619909
Liver Disease, Severe Congenital
Cardiomegaly, Micrognathia, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron... OMIM:619991
Codas Syndrome
Short humerus, Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Short sta... OMIM:600373
Hajdu-Cheney Syndrome
Micrognathia, Absent frontal sinuses, Partial absence of toe, Hepatomegaly, Short stature, Patent... ORPHA:955
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Short stature, Small for gestational age, Ventricular septal defect, Micrognathia, Mi... OMIM:614114
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Micromelia, Situs inver... ORPHA:289
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemic pallor, Anemia ORPHA:329971
22Q11.2 Deletion Syndrome
Micrognathia, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial septal defect, Sh... ORPHA:567
Lysinuric Protein Intolerance
Hepatomegaly, Short stature, Splenomegaly, Cutis laxa, Anemia, Leukopenia, Truncal obesity, Hemop... OMIM:222700
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... OMIM:614980
Brucellosis
Liver abscess, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Hepatomegaly, Leukocyto... ORPHA:1304
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Leukopenia, Hemophagocytosis, Failure to thrive, Th... OMIM:267700
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Micrognathia, Microcephaly, Patent ductus arteriosus, Vertebral clefti... OMIM:301043
Oculocerebral Hypopigmentation Syndrome, Preus Type
Arachnodactyly, Short stature, Abnormality of neutrophils, Abnormal hip bone morphology, Hypochro... ORPHA:2720
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Transient ischemic attack, Jaundice, Schistocytosis, Stroke, Microangiopathic he... OMIM:274150
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Ta... ORPHA:1335
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder dislocation, Irregular vertebral endpl... OMIM:143095
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Kyphoscoliosis, Micrognathia, Coxa valga, Splenomegaly, ... OMIM:608149
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... ORPHA:40366
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Biliary atresia, Mild microcephaly, Aplasia/Hypoplasia of the gallbladder, Atrial septal defect, ... ORPHA:2255
Prune Belly Syndrome
Congenital hip dislocation, Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fal... ORPHA:2970
Galloway-Mowat Syndrome 7
Hallux valgus, Arachnodactyly, Ventricular septal defect, Short stature, Micrognathia, Microcepha... OMIM:618348
Seckel Syndrome 9
Small for gestational age, Short stature, Ventricular septal defect, Micrognathia, Microcephaly, ... OMIM:616777
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ... OMIM:614262
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Medial calcification of large arteries, Short stature, Autoimmune th... ORPHA:391487
Weill-Marchesani Syndrome 2
Broad skull, Short metatarsal, Broad metacarpals, Short metacarpal, Lumbar hyperlordosis, Short s... OMIM:608328
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Relative macrocephaly, Abnormality of the knee, Lumbar hyperlordosis, Ventricular septal defect, ... ORPHA:251028
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia, Weight loss ORPHA:90060
Kury-Isidor Syndrome
Finger syndactyly, Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Gr... OMIM:619762
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Myh9-Related Disease
Elevated hepatic transaminase, Increased mean platelet volume, Giant platelets, Neutrophil inclus... ORPHA:182050
Heart Defects, Congenital, And Other Congenital Anomalies
Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Hypoplastic tricuspid valve, Patent... OMIM:600001
Neurooculocardiogenitourinary Syndrome
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Secondary... OMIM:618652
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu... OMIM:243150
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Patent ductus arteriosus, Increased mean platelet volume OMIM:300048
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Broad hallux, Proximal placement of thumb, Micrognathia, Tapered finge... ORPHA:435638
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Thoracic kyphosis, Short palm, Clinodact... ORPHA:508498
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Short stature, Tapered finger, Microcephaly, Splenomegaly, Micronodular cirrhosis, ... OMIM:301072
14Q24.1Q24.3 Microdeletion Syndrome
Brachydactyly, Ventricular septal defect, Short thumb, Abnormal heart morphology, Atrial septal d... ORPHA:401935
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Short stature, Dextrotransposition of the great arteries, Ankle clonus... OMIM:619995
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Toe syndactyly, Mitral stenosis, Ventricular septal defect, Cam... ORPHA:2008
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Ventricular septal defect, Small for gestational age, Large for gestational age, Postnatal growth... ORPHA:254534
Dyskeratosis Congenita, Autosomal Recessive 5
Microcephaly, Postnatal growth retardation, Leukopenia, Bone marrow hypocellularity, Intrauterine... OMIM:615190
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Micrognathia, Postnatal growth retardation, Abnormal heart morphology,... ORPHA:494344
Cardiofacioneurodevelopmental Syndrome
Ventricular septal defect, Micrognathia, Asplenia, Microcephaly, Kyphosis, Abdominal situs invers... OMIM:619123
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Short stature, Microcephaly, Tapered finger, Short umbilical cord OMIM:618367
Craniofacioskeletal Syndrome
Pes planus, Absent gallbladder, Short stature, Ventricular septal defect, Micrognathia, Microceph... OMIM:300712
Necrotizing Enterocolitis
Small for gestational age, Leukocytosis, Peritonitis, Abnormal heart morphology, Neutropenia, Thr... ORPHA:391673
Acquired Von Willebrand Syndrome
Normocytic anemia, Refractory anemia, Gastrointestinal angiodysplasia, Intracranial hemorrhage, P... ORPHA:99147
Suleiman-El-Hattab Syndrome
Microretrognathia, Ventricular septal defect, Microcephaly, Polydactyly, Atrial septal defect, Cl... OMIM:618950
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Pericardial effusion, Splenomegaly, Clubbing, Weight loss OMIM:181000
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Li-Ghorbani-Weisz-Hubshman Syndrome
Overlapping toe, Ventricular septal defect, Patent ductus arteriosus, Clinodactyly of the 5th fin... OMIM:618974
Combined Oxidative Phosphorylation Deficiency 55
Short stature, Microcephaly, Anemia, Talipes equinovarus, Thrombocytopenia, Genu varum OMIM:619743
H Syndrome
Hallux valgus, Pes planus, Short stature, Microcytic anemia, Hepatosplenomegaly, Varicose veins, ... ORPHA:168569
Grange Syndrome
Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Short palm ORPHA:79094
Trisomy 13
Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Postaxial hand polydactyly, Abnorm... ORPHA:3378
Den Hoed-De Boer-Voisin Syndrome
Ventricular septal defect, Sandal gap, Microcephaly, Overweight, Small hand, Obesity, 2-3 toe syn... OMIM:619229
Cooper-Jabs Syndrome
Ventricular septal defect, Camptodactyly of finger, Short stature, Proximal placement of thumb, M... ORPHA:1488
Aortic Arch Interruption
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... ORPHA:2299
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Petechiae, Microcytic anemia, Thrombocytopenia,... ORPHA:906
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Tangier Disease
Accelerated atherosclerosis, Carotid artery stenosis, Dry skin, Hepatosplenomegaly, Anemia, Left ... ORPHA:31150
Ogden Syndrome
Microretrognathia, Broad hallux, Ventricular septal defect, Postnatal growth retardation, Pulmona... ORPHA:276432
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Growth delay, Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Doors Syndrome
11 pairs of ribs, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Equinovarus deformity, Micr... ORPHA:79500
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Overlapping toe, Increased mean platelet volume, Proximal placement of thumb, Postnatal growth re... ORPHA:487796
Short Stature, Developmental Delay, And Congenital Heart Defects
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Atrial septal d... OMIM:617044
Mosaic Trisomy 1
Thoracic scoliosis, Finger clinodactyly, Pulmonary artery atresia, Absent distal interphalangeal ... ORPHA:1692
Myhre Syndrome
Hypoplastic iliac wing, Atrial septal defect, Vertebral fusion, Short stature, Pericardial effusi... OMIM:139210
Overlap Myositis
Elevated hepatic transaminase, Subluxation of the small joints of the hand, Abnormal heart morpho... ORPHA:206572
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Microcephaly, Splenomegaly... OMIM:608233
Kasabach-Merritt Syndrome
Reticulocytosis, Petechiae, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, H... ORPHA:2330
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Redundant neck skin, Ventricular septal defect, Short stature, Microcephaly, Scoliosis, Camptodac... OMIM:617360
Noonan Syndrome 2
Relative macrocephaly, Abnormal coronary artery origin, Short stature, Mitral stenosis, Ventricul... OMIM:605275
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Knee dislocation, Atrial septal defect, Spina bifida occulta... OMIM:150250
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Short foot ORPHA:228399
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Prominent fingertip pads, Ventricular septal defect, Overlapping toe, Coarctation of aorta, Abnor... OMIM:618494
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Leukocytosis, Vasculitis, Jaundice, H... ORPHA:2331
Atrial Septal Defect 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... OMIM:607941
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Aplasia/Hypoplasia of the distal phalanges of the toes, Ventricular septal defect, Aplasia/Hypopl... ORPHA:94066
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Erythema, Skin ulcer, Weight loss, Anemia, ... ORPHA:537
Chromosome 6Pter-P24 Deletion Syndrome
Broad toe, Ventricular septal defect, Rocker bottom foot, Patent ductus arteriosus, Short 2nd toe... OMIM:612582
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Kyphosis, Knee flexion cont... OMIM:603387
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Hepatomegaly, Flexion contracture of finger, Hypoplastic scapulae, Short stature, ... OMIM:256040
Cornelia De Lange Syndrome 1
Ventricular septal defect, Short stature, Micromelia, Micrognathia, Proximal placement of thumb, ... OMIM:122470
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Small for gestational age, Short stature, Ventricular septal defect, Microcephaly, Patent ductus ... OMIM:620024
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... OMIM:214500
Gaucher Disease, Type Ii
Hepatomegaly, Double aortic arch, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:230900
Immunodeficiency 22
Pericarditis, Anemia, Decreased proportion of CD4-positive helper T cells, Failure to thrive, Thr... OMIM:615758
Congenital Disorder Of Glycosylation, Type Iia
Pes planus, Ventricular septal defect, Short stature, Proximal placement of thumb, Coxa valga, Po... OMIM:212066
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... OMIM:601399
Adenohypophysitis
Normochromic anemia, Pallor ORPHA:95512
Castleman Disease
Myelofibrosis, Jaundice, Weight loss, Anemia, Decreased mean corpuscular volume, Restrictive card... ORPHA:160
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Overlapping fingers, Short stature, Cervical he... OMIM:619004
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Spina bifida, Abnormal shoulder morphology, Scoliosis, Cervical C2/C3 ... ORPHA:2345
Sheehan Syndrome
Normochromic anemia, Dry skin, Obesity, Pallor ORPHA:91355
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... ORPHA:210122
Mogs-Cdg
Hepatomegaly, Thoracic scoliosis, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Overlap... ORPHA:79330
Hereditary Hemorrhagic Telangiectasia
Peripheral arteriovenous fistula, Transient ischemic attack, Cerebral hemorrhage, Abnormal cerebr... ORPHA:774
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Short stature, Ventricular septal defect, Pulmonary artery stenosis, Postaxial hand polydactyly, ... ORPHA:75389
Gray Platelet Syndrome
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,... OMIM:139090
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Microcephaly, Scoliosis, Primary microcephaly, Atrial septal defect, Thrombocytopenia ORPHA:457351
Mosaic Trisomy 16
Syndactyly, Small for gestational age, Ventricular septal defect, Short thumb, Patent ductus arte... ORPHA:1708
Cerebellofaciodental Syndrome
Pes planus, Ventricular septal defect, Short stature, Tapered finger, Microcephaly, Shortening of... OMIM:616202
Mitochondrial Dna Depletion Syndrome 19
Microcytic anemia OMIM:618972
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Ventricular septal defect, Sandal gap, Micrognathia, Tapered finger, Microcephaly, Patent ductus ... OMIM:617061
Non-Functioning Pituitary Adenoma
Pallor, Anemia of inadequate production ORPHA:91349
Distal Duplication 5Q
Hypoplasia of the ulna, Ventricular septal defect, Short stature, Dextrocardia, Micrognathia, Abs... ORPHA:96097
Irida Syndrome
Intrahepatic cholestasis, Pallor ORPHA:209981
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Pes planus, Short metacarpal, Brachydactyly, Ventricular septal defect, Short stat... ORPHA:166035
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Short stature, Ventricular septal defect, Elevated c... OMIM:614921
Spondylo-Ocular Syndrome
Pes planus, Ventricular septal defect, Short stature, Disproportionate short-trunk short stature,... ORPHA:85194
Zellweger Syndrome
Hepatomegaly, Ventricular septal defect, Short stature, Micrognathia, Microcephaly, Jaundice, Hep... ORPHA:912
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Stevens-Johnson Syndrome
Acute hepatic failure, Elevated hepatic transaminase, Abnormality of neutrophils, Thrombocytopeni... ORPHA:36426
Panhypophysitis
Normochromic anemia, Pallor ORPHA:95513
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Patent ductus arteriosus, Hepatosplenomegaly, Anemia, Leukopenia, Abnormal ... ORPHA:505248
Radio-Tartaglia Syndrome
Pes planus, Ventricular septal defect, Tapered finger, Micrognathia, Microcephaly, Obesity, Scoli... OMIM:619312
Pallister-Hall Syndrome
Syndactyly, Mesoaxial foot polydactyly, Short stature, Ventricular septal defect, Toe syndactyly,... OMIM:146510
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Kapur-Toriello Syndrome
Overlapping fingers, Ventricular septal defect, Camptodactyly of finger, Short thumb, Patent duct... OMIM:244300
Intellectual Developmental Disorder, Autosomal Dominant 66
Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a... OMIM:619910
Shigellosis
Failure to thrive in infancy, Myocarditis, Leukocytosis, Peritonitis, Cholestasis, Microangiopath... ORPHA:810
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Pes cavus, Neutropenia, Microcytic anemia OMIM:251900
Myopathy With Lactic Acidosis, Hereditary
Anemia, Sideroblastic anemia, Leukopenia OMIM:255125
Pituitary Apoplexy
Normochromic anemia, Pallor ORPHA:95613
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Short stature, Ventricular septal defect, Proportionate short stature, Broa... OMIM:277600
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Syndactyly, Ventricular septal defect, Short stature, Abnormal foot morphology, Abnormal heart mo... ORPHA:369891
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... ORPHA:3312
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Short stature, Failure to thr... OMIM:163950
Tatton-Brown-Rahman Syndrome
Ventricular septal defect, Patellar subluxation, Umbilical hernia, Scoliosis, Macrocephaly, Atria... OMIM:615879
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Failure to thrive, Absent circulating B cells OMIM:619693
Immunodeficiency 55
Absent natural killer cells, Short stature, Microcephaly, Postnatal growth retardation, Dry skin,... OMIM:617827
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly ORPHA:169090
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Redundant neck skin, Aplasia/Hypoplasia of the scapu... ORPHA:3472
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Ventricular septal defect, Short stature, Large hands, Biparietal narrowing, Umbilical hernia, Br... ORPHA:1770
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Myocarditis, Cardiomyo... ORPHA:892
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Short palm, Pericardial lymphangiectasia, Mild postnatal growth retardation, Ventricular septal d... OMIM:235510
Chops Syndrome
Short stature, Ventricular septal defect, Microcephaly, Splenomegaly, Patent ductus arteriosus, O... OMIM:616368
Sotos Syndrome
Pes planus, Ventricular septal defect, Patent ductus arteriosus, Muscular ventricular septal defe... OMIM:117550
Acute Radiation Syndrome
Skin ulcer, Scaling skin, Granulocytopenia, Lymphopenia, Thrombocytopenia ORPHA:454831
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect OMIM:235750
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Relative macrocephaly, Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, ... OMIM:617895
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Micrognathia, Postnatal growth reta... ORPHA:1655
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... OMIM:154400
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor ORPHA:348
Digeorge Syndrome
Hepatic steatosis, Short stature, Ventricular septal defect, Cholelithiasis, Micrognathia, Microc... OMIM:188400
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Ventricular septal defect, Overlapping toe, Microcephaly, Splenomegaly, Patent duct... OMIM:618268
Acute Adrenal Insufficiency
Normocytic anemia, Dry skin, Weight loss, Stroke, Delayed puberty, Failure to thrive ORPHA:95409
Wars2-Related Combined Oxidative Phosphorylation Defect
Intrauterine growth retardation, Positional foot deformity, Thrombocytopenia, Cardiomyopathy ORPHA:572798
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Hypoplastic right heart, Short stature, Ventricular septal defect, Micrognathia, Kyph... OMIM:616894
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Arachnodactyly, Ventricular septal defect, Abdominal obesity, Aortic root aneurysm, Talipes equin... OMIM:301039
Fetal And Neonatal Alloimmune Thrombocytopenia
Subarachnoid hemorrhage, Neonatal alloimmune thrombocytopenia, Intracranial hemorrhage, Ecchymosi... ORPHA:853
Hellp Syndrome
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... ORPHA:244242
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Large for gestational age,... ORPHA:500095
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Short stature, Abnormal hemoglobin, Microcephaly, Talipes equinovarus, Clinodactyly of the 5th fi... ORPHA:847
Noonan Syndrome 10
Relative macrocephaly, Short stature, Ventricular septal defect, Patent ductus arteriosus, Coarct... OMIM:616564
Burn-Mckeown Syndrome
Ventricular septal defect, Short stature, Micrognathia, 2-3 toe syndactyly, Atrial septal defect OMIM:608572
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Short stature, Sandal gap, Micrognathia, Microcephaly, 2-3 toe synda... OMIM:251260
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholelithiasis, Vertebral ... OMIM:263700
Meier-Gorlin Syndrome 7
2-4 finger syndactyly, Ventricular septal defect, Short stature, Bowing of the legs, Aplasia/Hypo... OMIM:617063
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Vertebral fusion, Ventricular septal defect, Short stature, Tarsal synostosis, M... OMIM:178110
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor, Cerebral hemorrhage, Weight loss ORPHA:276621
Tyshchenko Syndrome
Ventricular septal defect, Short stature, Pulmonic stenosis, Atrial septal defect, Intrauterine g... OMIM:615102
Blue Rubber Bleb Nevus
Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia OMIM:112200
Vater/Vacterl Association
Syndactyly, Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth re... OMIM:192350
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Short 5th finger, Clinodactyly... OMIM:220500
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616277
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Autosomal Recessive Robinow Syndrome
Micrognathia, Vertebral segmentation defect, Abnormal tricuspid valve morphology, Clinodactyly of... ORPHA:1507
Pulmonary Arteriovenous Malformation
Liver abscess, Transient ischemic attack, Clubbing, Pulmonary arteriovenous fistulas, Iron defici... ORPHA:2038
Femoral-Facial Syndrome
Short fourth metatarsal, Micrognathia, Hemivertebrae, Short stature, Humeroradial synostosis, Abs... OMIM:134780
Rubinstein-Taybi Syndrome 1
Plantar crease between first and second toes, Micrognathia, Aortic isthmus hypoplasia, Hepatic he... OMIM:180849
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Purpura OMIM:235400
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Patent foramen ovale, Secondary microcephaly, Talipes equinovarus, Sco... OMIM:614961
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Toe syndactyly, Bicuspid aortic valve, Short stature, Ventricular septal defect, Micrognathia, Pr... OMIM:610759
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Secundum atrial septal defect, Metaphyseal widening, Subarterial ventricular septal defect, Irreg... ORPHA:99646
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect, Proportionate short stature, Microcephaly OMIM:609654
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Cerebral hemorrhage, Abnormal vascular morphology, Osteolysis involving bones of... ORPHA:464321
Coffin-Siris Syndrome 7
Bicuspid aortic valve, Ventricular septal defect, Short stature, Clinodactyly of the 5th finger, ... OMIM:618027
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia ORPHA:93552
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Ventricular septal defect, Scoliosis OMIM:214300
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Ventricular septal defect, Pes ... OMIM:607323
Wolf-Hirschhorn Syndrome
Micrognathia, Abnormal form of the vertebral bodies, Atrial septal defect, Intrauterine growth re... OMIM:194190
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Microcephaly, Complete atrioventr... OMIM:619343
Recombinant 8 Syndrome
Ventricular septal defect, Camptodactyly of finger, Redundant skin, Micrognathia, Pulmonary arter... ORPHA:96167
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius, Hypoplast... ORPHA:2476
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Short stature, Ventricular septal defect, Microcephaly, Patent ductus arterios... ORPHA:457193
Mckusick-Kaufman Syndrome
Finger syndactyly, Short stature, Ventricular septal defect, Tarsal synostosis, Patent ductus art... ORPHA:2473
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia ORPHA:90647
Marden-Walker Syndrome
Severe short stature, Ventricular septal defect, Dextrocardia, Arachnodactyly, Micrognathia, Situ... ORPHA:2461
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Myocarditis, Leukocytosis, Pallor, Pancreatitis, Thrombocytopenia ORPHA:544482
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Postaxial polydactyly, Micrognathia, Lower limb asymmetry, Kyphosis, 2... ORPHA:404440
Thrombocytopenia 6
Myelofibrosis, Bone marrow hypercellularity, Thrombocytopenia OMIM:616937
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Atrial septal defect, Neon... OMIM:265380
Kleefstra Syndrome Due To 9Q34 Microdeletion
Microcephaly, Obesity, Conotruncal defect, Tetralogy of Fallot, Growth delay, Coarctation of aort... ORPHA:96147
Peroxisome Biogenesis Disorder 5A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Small for gestational age, Ventricular septal defe... OMIM:614866
Robinow Syndrome
Micrognathia, Hemivertebrae, Atrial septal defect, Fused thoracic vertebrae, Syndactyly, Short st... ORPHA:97360
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Stroke-like episode, Pallor, Failure to th... ORPHA:137675
Methimazole Embryofetopathy
Intrauterine growth retardation, Abnormal aortic morphology, Ventricular septal defect, Coarctati... ORPHA:1923
Bacterial Toxic-Shock Syndrome
Myocarditis, Abnormality of the lower limb, Peritonitis, Increased circulating myelocyte count, H... ORPHA:36234
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Vasculitis, Biliary cirrhosis, Skin ulcer, Dry skin,... ORPHA:289390
Chromosome 1Q41-Q42 Deletion Syndrome
Sandal gap, Ventricular septal defect, Short stature, Microcephaly, 3-4 finger cutaneous syndacty... OMIM:612530
Keutel Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Short stature, Short distal phalanx of finger ORPHA:85202
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Flexion contracture of finger, Small for gestational age, Ventricular septal defect, Ankle flexio... ORPHA:464311
Char Syndrome
Toe syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Mesoaxial hand polydactyly... ORPHA:46627
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Pancytopenia, Erythema, Skin ulcer, Weight loss, Skin vesicle ORPHA:99921
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Ventricular septal defect, Short hallux, Proxi... ORPHA:2438
3Mc Syndrome 1
Ventricular septal defect, Single interphalangeal crease of fifth finger, Microcephaly, Postnatal... OMIM:257920
Chime Syndrome
Ventricular septal defect, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hi... ORPHA:3474
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Talipes, Microcephaly, Abnormal heart morpholog... ORPHA:453499
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arterios... ORPHA:284169
Mandibulofacial Dysostosis, Guion-Almeida Type
Ventricular septal defect, Short stature, Proximal placement of thumb, Micrognathia, Microcephaly... OMIM:610536
Cyclic Neutropenia
Cyclic neutropenia, Peritonitis, Decreased eosinophil count, Lymphopenia, Thrombocytopenia ORPHA:2686
Wilson Disease
Acute hepatic failure, Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransf... OMIM:277900
Cat Eye Syndrome
Short stature, Ventricular septal defect, Micrognathia, Absent radius, Patent ductus arteriosus, ... OMIM:115470
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Weight los... ORPHA:100075
Tay-Sachs Disease
Cherry red spot of the macula, Pallor OMIM:272800
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Short stature, Abnormal heart valve morphology, Cholelithiasis, Autoimmune thromboc... ORPHA:77293
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Myocarditis, Vasculitis, Erythema, Wei... ORPHA:50918
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Short stature, Patent ductus arteriosus, Scoliosis, Macrocephaly ORPHA:52055
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Kyphosis, ... ORPHA:79329
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Small for gestational age, Short stature, Ventricular septal defec... ORPHA:464306
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Ventricular septal defect, Short stature, Arachnodactyly, Micrognathi... OMIM:300373
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Ventricular septal defect... ORPHA:26793
Lead Poisoning
Small for gestational age, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Delayed p... ORPHA:330015
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Ventricular septal defect, Short stature,... OMIM:250410
Coffin-Siris Syndrome 4
Short stature, Ventricular septal defect, Mitral atresia, Microcephaly, Patent ductus arteriosus,... OMIM:614609
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Atrial... OMIM:304120
Trichothiodystrophy
Ventricular septal defect, Hypoplasia of mandible relative to maxilla, Microcephaly, Increased me... ORPHA:33364
Neu-Laxova Syndrome 1
Micromelia, Micrognathia, Calcaneovalgus deformity, Neonatal death, Patent foramen ovale, Finger ... OMIM:256520
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Relative macrocephaly, Short stature, Ventricular septal defect, Patent ductus arteriosus, Hypopl... OMIM:617506
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Ventricular septal defect, Overlapping toe, Cholelithiasis, Microcephaly, Broa... ORPHA:464738
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Leukocytosis, Thrombocytopenia ORPHA:83601
Pseudotrisomy 13 Syndrome
11 pairs of ribs, Encephalocele, Ventricular septal defect, Dextrocardia, Microcephaly, Complete ... OMIM:264480
Cone-Rod Dystrophy 8
Retinal arteriolar constriction, Pallor OMIM:605549
Loeys-Dietz Syndrome 5
Pes planus, Short stature, Failure to thrive in infancy, Ventricular septal defect, Arachnodactyl... OMIM:615582
Holoprosencephaly 14
Ventricular septal defect, Microcephaly, Aortic valve atresia, Macrocephaly, Double outlet right ... OMIM:619895
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Myocarditis, Leukocytosis, Fulminant hepatitis, Leukopenia, Ecchym... ORPHA:319213
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Erythema, Extrahepatic cholesta... ORPHA:97282
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Short stature, Neonatal alloimmune thrombocytopenia, Cardiomegaly,... ORPHA:51
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Micrognathia, Absent thumb, Short thumb, Patent ductus arteriosus, 2-3... OMIM:617516
Coffin-Siris Syndrome
Ventricular septal defect, Hepatoblastoma, Microcephaly, Postnatal growth retardation, Patent duc... ORPHA:1465
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... ORPHA:99050
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Ulnar deviation of the hand, Ventricular septal de... OMIM:214100
Avian Influenza
Elevated hepatic transaminase, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:454836
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Microcephaly, Coarctation of aorta, Abnormal heart morphology, Total a... ORPHA:261183
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Cutaneous syndactyly, Tetralog... OMIM:601005
Transketolase Deficiency
Hepatomegaly, Ventricular septal defect, Proportionate short stature, Abnormal coronary artery co... ORPHA:488618
Heart And Brain Malformation Syndrome
Ventricular septal defect, Camptodactyly of finger, Microcephaly, Growth delay, Interrupted aorti... OMIM:616920
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Pes planus, Relative macrocephaly, Slender build, Left ventricular noncompaction c... OMIM:300967
Ulnar-Mammary Syndrome
Abnormal morphology of the radius, Ventricular septal defect, Short stature, Camptodactyly of fin... ORPHA:3138
Lateral Meningocele Syndrome
Vertebral fusion, Bicuspid aortic valve, Short stature, Ventricular septal defect, Micrognathia, ... OMIM:130720
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexi... ORPHA:37042
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Micrognathia ORPHA:1237
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Necrolytic migratory erythema, Acanthocytosis, Intrahepat... ORPHA:97280
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Redundant neck skin, Ventricular septal defect, Thyroid lymphangiectasia, Micrognat... OMIM:235255
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
11 pairs of ribs, Ventricular septal defect, Patent ductus arteriosus, Hemivertebrae, Growth dela... ORPHA:77298
Chromosome 9P Deletion Syndrome
Long toe, Pes planus, Ventricular septal defect, Sandal gap, Hallux varus, Micrognathia, Tapered ... OMIM:158170
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... ORPHA:3097
Kleefstra Syndrome
Bicuspid aortic valve, Short stature, Ventricular septal defect, Microcephaly, Pulmonary artery s... ORPHA:261494
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Thakker-Donnai Syndrome
Ventricular septal defect, Hemivertebrae, Transposition of the great arteries, Cervical C2/C3 ver... ORPHA:1780
X Small Rings
Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Tapered finger, 2-3 toe syndact... ORPHA:96201
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Overlapping toe, Microcephaly, Partial anomalous pulmonary venous retu... OMIM:617478
Van Esch-O'Driscoll Syndrome
Short stature, Ventricular septal defect, Microcephaly, Pulmonary artery stenosis, Spina bifida o... OMIM:301030
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect, Macrocephaly ORPHA:2143
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Interphalangeal thumb joint ... OMIM:613870
Focal Dermal Hypoplasia
Acute hepatic failure, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Camptodactyl... ORPHA:2092
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Cholangitis, Portal hypertension, Micrognathia, Hypersplenism, Splenomegaly, ... ORPHA:731
Hereditary Pheochromocytoma-Paraganglioma
Pallor, Cerebral hemorrhage, Weight loss ORPHA:29072
Skraban-Deardorff Syndrome
Right aortic arch, Pes cavus, Ventricular septal defect, Micrognathia OMIM:617616
Marshall-Smith Syndrome
Thoracic scoliosis, Distal widening of metacarpals, Coxa vara, Thoracic kyphosis, Prominent finge... OMIM:602535
Kaufman Oculocerebrofacial Syndrome
Congenital hip dislocation, Ventricular septal defect, Short stature, Ovoid vertebral bodies, Mic... OMIM:244450
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Ebola Hemorrhagic Fever
Acute pancreatitis, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Short stature, Cachexia, Microcephaly, Acute leuke... ORPHA:647
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Ventricular septal defect, Foot jo... ORPHA:444072
Smith-Lemli-Opitz Syndrome
Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calc... OMIM:270400
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma... ORPHA:3092
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Micrognathia, Talipes calcaneovalgus, Abnormal form of the vertebral... ORPHA:818
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Skewfoot, Failure to thrive, Pallor ORPHA:2131
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Vertebral segmentation defect, Hepatoblastoma, Clinodactyly of the 5t... ORPHA:373
Lysinuric Protein Intolerance
Bone marrow hypercellularity, Hepatomegaly, Elevated hepatic transaminase, Hepatosplenomegaly, An... ORPHA:470
Eisenmenger Syndrome
Hepatomegaly, Ventricular septal defect, Patent ductus arteriosus, Clubbing, Hypochromic microcyt... ORPHA:97214
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Proximal placement of thumb, Dextrotranspositio... OMIM:618619
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Patent ductus arteriosus, Short stature OMIM:218350
Noonan Syndrome 9
Ventricular septal defect, Short stature, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Hajdu-Cheney Syndrome
Ventricular septal defect, Short stature, Kyphoscoliosis, Micrognathia, Absent frontal sinuses, P... OMIM:102500
Trisomy 18
Microretrognathia, Short stature, Ventricular septal defect, Cachexia, Camptodactyly of finger, M... ORPHA:3380
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Cerebrocostomandibular Syndrome
Hydranencephaly, Ventricular septal defect, Short stature, Spina bifida, Micrognathia, Microcepha... ORPHA:1393
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect, Short stature, Microcephaly OMIM:618325
Multifocal Atrial Tachycardia
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... ORPHA:3282
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Redundant neck skin, Ventricular septal defect, Microcephaly, Patent ductus arteriosus, Postaxial... ORPHA:2519
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Tricuspid stenosis, Extrahepatic cholestasis, Weight loss, Iron de... ORPHA:100078
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Talipes equinovarus, Clinodactyly, Patent foramen ovale, Transposition of the great arteries OMIM:616789
Alagille Syndrome 1
Elevated hepatic transaminase, Hypoplasia of the ulna, Ventricular septal defect, Butterfly verte... OMIM:118450
3Q29 Microduplication Syndrome
Toe syndactyly, Ventricular septal defect, Sandal gap, Microcephaly, Obesity, Biparietal narrowin... ORPHA:251038
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect, Microcephaly, Micrognathia, Patent ductus arteriosus, Exocrine pancrea... ORPHA:452
Beck-Fahrner Syndrome
Pes planus, Ventricular septal defect, Cardiomegaly, Microcephaly, Hip dysplasia, Macrocephaly OMIM:618798
Trisomy 1Q
Microretrognathia, Toe syndactyly, Arachnodactyly, Ventricular septal defect, Camptodactyly of fi... ORPHA:261344
Ménétrier Disease
Hypochromic microcytic anemia, Weight loss ORPHA:2494
Yunis-Varon Syndrome
Congenital hip dislocation, Redundant neck skin, Anterior concavity of thoracic vertebrae, Microg... OMIM:216340
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morp... ORPHA:457279
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Ventricular septal defect, Short stature, Thoracolumbar scoliosis, Patent ductus arteriosus, Macr... OMIM:300472
Roberts-Sc Phocomelia Syndrome
Micrognathia, Tetraphocomelia, Knee flexion contracture, Atrial septal defect, Phocomelia, Access... OMIM:268300
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Zttk Syndrome
Relative macrocephaly, Absent gallbladder, Short stature, Ventricular septal defect, Kyphosis, Pa... OMIM:617140
Teebi Hypertelorism Syndrome 1
Ventricular septal defect, Short stature, Micrognathia, Small hand, Aortic root aneurysm, Atrial ... OMIM:145420
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Knee... OMIM:619534
Leigh Syndrome
Ventricular septal defect, Hepatic failure, Growth delay, Neutropenia, Intrauterine growth retard... ORPHA:506
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodactyly, Aplasia/... OMIM:276820
Retinitis Pigmentosa 75
Pallor OMIM:617023
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Pes planus, Ventricular septal defect, Short stature, Micrognathia OMIM:616901
Mosaic Trisomy 20
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Micrognathia, Kyphosis, Dysp... ORPHA:1724
Chromosome 14Q11-Q22 Deletion Syndrome
Ventricular septal defect, Proportionate short stature, Micrognathia, Microcephaly, Patent ductus... OMIM:613457
Aceruloplasminemia
Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepatic fibrosis,... ORPHA:48818
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Clubbing, Biliary tract abnormality, Iron deficiency a... OMIM:175200
Prolactinoma
Pallor, Delayed puberty ORPHA:2965
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect, Talipes equinovarus OMIM:209770
Oculocerebrorenal Syndrome Of Lowe
Short stature, Micrognathia, Thrombocytopenia, Kyphosis, Hip dislocation, Skin ulcer, Genu valgum... ORPHA:534
Velocardiofacial Syndrome
Short stature, Ventricular septal defect, Talipes, Microcephaly, Interrupted aortic arch, Pulmona... OMIM:192430
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Decreased mean platelet volume, Lymphocytosis, Vasculitis in the skin, Failure to thr... OMIM:617718
Peters-Plus Syndrome
Bilobate gallbladder, Proximal placement of thumb, Micrognathia, Short metatarsal, Hemivertebrae,... OMIM:261540
Kabuki Syndrome 1
Hemolytic anemia, Prominent fingertip pads, Congenital hip dislocation, Short stature, Ventricula... OMIM:147920
Pancreatic Triacylglycerol Lipase Deficiency
Growth delay, Iron deficiency anemia, Exocrine pancreatic insufficiency, Weight loss ORPHA:309031
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Pedal edema, Large vessel vasculitis, Weight loss ORPHA:49041
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Lumbar hyperlordosis, Short stature, Ventricular septal defect, Micrognathia, Microce... OMIM:616975
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Micrognathia, Complete atrioventricular canal defect... OMIM:236680
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Ventricular septal defect, Broad hallux, 1-2 toe syndactyly, Tapered finger, Talipes, Microcephal... OMIM:301044
Omodysplasia 1
Short humerus, Ventricular septal defect, Rhizomelia, Increased fibular diameter, Micrognathia, L... OMIM:258315
Alg9-Cdg
Micrognathia, Right ventricular dilatation, Abnormal left ventricular outflow tract morphology, N... ORPHA:79328
Cardiac-Urogenital Syndrome
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... OMIM:618280
Thrombocytopenia 3
Thrombocytopenia, Petechiae, Decreased mean platelet volume OMIM:273900
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Teebi-Shaltout Syndrome
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Short stature, Rocker bottom ... OMIM:272950
Orofaciodigital Syndrome V
Ventricular septal defect, Sandal gap, Postaxial polydactyly, Microcephaly, Postaxial hand polyda... OMIM:174300
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Short stature, Micrognathia, Microcephaly, Patent ductus arteriosus, 2... OMIM:618454
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Micrognathia, Asplenia, Short th... OMIM:164280
Holoprosencephaly
Encephalocele, Ventricular septal defect, Failure to thrive in infancy, Abnormal pulmonary valve ... ORPHA:2162
Thauvin-Robinet-Faivre Syndrome
Pes planus, Transient neutropenia, Ventricular septal defect, Large for gestational age, Bowing o... OMIM:617107
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect, Short stature, Kyphoscoliosis, Microcephaly, Kyphosis, Metaphyseal wid... OMIM:259770
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Ventricular septal defect, Arachnodactyly, Micrognathia,... OMIM:309520
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Micrognathia, Prominent fingertip pads, Atrial septal defect, Clinodactyly... OMIM:612474
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Microcephaly, Kyphosis, 2-3 toe syndactyly, Scoliosis, Atrial septal d... OMIM:616449
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Thrombocytopenia OMIM:254900
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydac... OMIM:263520
Microphthalmia, Syndromic 3
Vertebral fusion, Ventricular septal defect, Short stature, Missing ribs, Postnatal growth retard... OMIM:206900
16P13.11 Microdeletion Syndrome
Ventricular septal defect, Short stature, Camptodactyly of finger, Metatarsus valgus, Microcephal... ORPHA:261236
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Finger syndactyly, Hepatomegaly, Ventricular septal defect, Aortopulmonary coll... OMIM:620025
Childhood Absence Epilepsy
Pallor ORPHA:64280
Neurodevelopmental Disorder With Language Delay And Seizures
Growth delay, Ventricular septal defect OMIM:619908
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine pancreatic in... OMIM:269200
Monosomy 22
Finger syndactyly, Aplasia of the thymus, Microcephaly, Clubbing, Hypochromic microcytic anemia, ... ORPHA:96123
Nephrotic Syndrome, Type 11
Arachnodactyly, Ventricular septal defect, Micrognathia, Partial duplication of thumb phalanx, Di... OMIM:616730
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Calcaneovalgus deformity, Positional foot deformity, Prominent fingertip p... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Calcaneovalgus deformity, Positional foot deformity, Prominent fingertip p... ORPHA:363958
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Long toe, Pes planus, Bicuspid aortic valve, Short stature, Small for gestational age, Microcepha... OMIM:613355
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
Congenital Gerbode Defect
Ventricular septal defect, Ankle swelling, Right atrial enlargement, Pedal edema, Perimembranous ... ORPHA:99095
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Short stature, Microcephaly, Small hand, Obesity, Ventricular septal h... OMIM:614947
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:169105
Ulnar-Mammary Syndrome
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... OMIM:181450
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Postaxial polydactyly, Meningocele, Growth delay, Intra... OMIM:614424
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Microcephaly, Ventricular septal defect, Micrognathia OMIM:613680
Oculodentodigital Dysplasia
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Short hall... ORPHA:2710
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Thrombocytosis, Leukocytosis, Failure to thrive, Hypochromic anemia OMIM:618213
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... ORPHA:216694
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemolytic anemia, Pa... ORPHA:90038
Lateral Meningocele Syndrome
Ventricular septal defect, Micrognathia, Hyperlordosis, Kyphosis, Meningocele, Abnormal form of t... ORPHA:2789
Delpire-Mcneill Syndrome
Ventricular septal defect, Hip dislocation OMIM:619083
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Ventricular septal defect, Hepatitis, Hypoplasia of the thymus, Intr... ORPHA:436252
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micromelia, Micrognathia, Abnormal finger morphology, Abnormal form of the vertebral bodies, Shor... ORPHA:2636
Woods Syndrome
3-4 finger cutaneous syndactyly, Ventricular septal defect OMIM:615236
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Relative macrocephaly, Short stature, Ventricular septal defect, Large for gestati... OMIM:607721
Kapur-Toriello Syndrome
Patent ductus arteriosus, Failure to thrive, Ventricular septal defect, Tetralogy of Fallot ORPHA:2328
Simpson-Golabi-Behmel Syndrome, Type 1
Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, Atrial septal defect, He... OMIM:312870
Tsh-Secreting Pituitary Adenoma
Pericardial effusion, Weight loss, Pallor, Delayed puberty ORPHA:91347
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Increased body weight, Biliary cirrhosis, Weight loss, Leukopenia, De... ORPHA:2298
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Macrocephaly OMIM:618504
Apert Syndrome
Syndactyly, Finger syndactyly, Overriding aorta, Ventricular septal defect, Preaxial hand polydac... OMIM:101200
Hemorrhagic Fever-Renal Syndrome
Elevated hepatic transaminase, Petechiae, Leukocytosis, Intracranial hemorrhage, Anemia, Decrease... ORPHA:340
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Micrognathia, Microcephaly, Aplasia of the distal phalanx of the 5th t... OMIM:608670
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, V... OMIM:126320
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia OMIM:619632
Rabson-Mendenhall Syndrome
Short stature, Ventricular septal defect, Severe postnatal growth retardation, Cardiomyopathy, Po... ORPHA:769
Rift Valley Fever
Elevated hepatic transaminase, Jaundice, Hepatitis, Anemia, Thrombocytopenia ORPHA:319251
Serkal Syndrome
Growth delay, Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Brain-Lung-Thyroid Syndrome
Short stature, Ventricular septal defect, Microcephaly, Growth delay, Abnormal cardiac septum mor... ORPHA:209905
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell c... OMIM:301074
7Q11.23 Microduplication Syndrome
Pes planus, Short stature, Ventricular septal defect, Micrognathia, Long fingers, Patent ductus a... ORPHA:96121
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Ventricular septal defect, Short stature, Broad ischia, Macrocephaly, Diap... OMIM:619727
Limb Body Wall Complex
Encephalocele, Duplication of hand bones, Ventricular septal defect, Broad hallux, Aplasia/hypopl... ORPHA:2369
Cerebrocostomandibular Syndrome
11 pairs of ribs, 10 pairs of ribs, Short humerus, Congenital hip dislocation, Ventricular septal... OMIM:117650
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Small for gestational age, Short stature, Failure to thrive in infancy, Ventricula... ORPHA:268261
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Micrognathia... ORPHA:96191
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Short stature, Ventricular septal defect, Tarsal synostosis, Muscular ventricu... OMIM:157800
Opitz Gbbb Syndrome
Short stature, Ventricular septal defect, Micrognathia, Microcephaly, Patent ductus arteriosus, A... ORPHA:2745
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Micrognathia, Atrial septal defect, Patent foramen ovale, Syndactyly, Shor... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Micrognathia, Atrial septal defect, Patent foramen ovale, Syndactyly, Shor... ORPHA:353277
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Short stature, Ventricular septal defect, Patent ductus arterio... OMIM:609942
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Dry skin, Ventricular septal defect, Secondary microcephaly OMIM:619306
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Short stature, Ventricular septal defect, Micrognathia, Microcepha... ORPHA:444077
Coffin-Siris Syndrome 1
Prominent interphalangeal joints, Prominent fingertip pads, Clinodactyly of the 5th finger, Atria... OMIM:135900
Tbck-Related Intellectual Disability Syndrome
11 pairs of ribs, Broad toe, Ventricular septal defect, Microcephaly, 2-3 toe syndactyly, Macroce... ORPHA:488632
Trichothiodystrophy 4, Nonphotosensitive
Growth delay, Ventricular septal defect, Microcephaly OMIM:234050
Thrombocytopenia 1
Petechiae, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytop... OMIM:313900
Fryns Syndrome
Microretrognathia, Prominent fingertip pads, Ectopic pancreatic tissue, Ventricular septal defect... OMIM:229850
Okamoto Syndrome
Redundant neck skin, Ventricular septal defect, Talipes, Microcephaly, Splenomegaly, Abnormal lef... ORPHA:2729
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hallux valgus, Pes planus, Relative macrocephaly, Slender build, Left ventricular hypertrophy, Ve... ORPHA:466791
Kleefstra Syndrome 1
Microcephaly, Obesity, Conotruncal defect, Talipes equinovarus, Brachydactyly OMIM:610253
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Ventricular septal defect, Erythema, Growth delay, Talipes equinovarus, Hand clenching, Intrauter... OMIM:614653
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Tick-Borne Encephalitis
Elevated hepatic transaminase, Leukocytosis, Leukopenia, Abnormal myocardium morphology, Thromboc... ORPHA:297
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Patent ductus arteriosus, Absent pulmonary artery, Split hand, Clubbin... OMIM:600460
Phelan-Mcdermid Syndrome
Ventricular septal defect, Micrognathia, Microcephaly, Patent ductus arteriosus, 2-3 toe syndacty... OMIM:606232
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Dilated cardiomyopathy, Myocardial fibrosis, Calf muscle hypertrophy, Transpositio... OMIM:253800
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Pallor, Kyphoscoliosis, Hyperlordosis ORPHA:653
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Arboleda-Tham Syndrome
Secundum atrial septal defect, Atrial septal defect, Genu varum, Microretrognathia, Short hallux,... OMIM:616268
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Pes planus, Ventricular septal defect, Short stature, Overweight, Macrocephaly, Failure to thrive... OMIM:619575
Holocarboxylase Synthetase Deficiency
Thrombocytopenia OMIM:253270
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Hypochromic microcytic anemia, ... ORPHA:97283
Cardiac Valvular Dysplasia 1
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... OMIM:212093
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Short stature, Bicuspid aortic valve, Ventricular septal defect, Broad hallux, Avascular necrosis... ORPHA:353281
Williams Syndrome
Bicuspid aortic valve, Redundant skin, Abnormal cerebral vascular morphology, Cardiomegaly, Micro... ORPHA:904
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Lymphopenia, Reticulocytosis, Pericarditis, Petechiae, Jaundice, N... ORPHA:99826
Cornelia De Lange Syndrome
Micromelia, Micrognathia, Proximal placement of thumb, Clinodactyly of the 5th finger, Atrial sep... ORPHA:199
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Pes cavus, Short stature, Ventricular septal defect, Kyphoscoliosis, Micrognathia, Hyperlordosis,... ORPHA:363700
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Micrognathia OMIM:607598
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Pallister-Hall Syndrome
Large for gestational age, Hemivertebrae, Atrial septal defect, Atrioventricular canal defect, Mi... ORPHA:672
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Micrognathia, Tapered... OMIM:613458
Donnai-Barrow Syndrome
Short sternum, Umbilical hernia, Ventricular septal defect, Macrocephaly OMIM:222448
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... ORPHA:79277
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Severe short stature, Ventricular septal defect, Camptodactyly of finger, Micrognathia, Microceph... ORPHA:3047
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Relative macrocephaly, Iron deficiency anemia, Hepatoblastoma, Micrognathia ORPHA:261584
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Micrognath... ORPHA:261337
Alzahrani-Kuwahara Syndrome
Short stature, Pulmonary artery sling, Coronary sinus enlargement, Ventricular septal defect, Mic... OMIM:619268
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Aase-Smith Syndrome I
Slender finger, Ventricular septal defect, Talipes equinovarus OMIM:147800
Restrictive Dermopathy
Aplasia/Hypoplasia of the clavicles, Thoracic kyphoscoliosis, Dextrocardia, Camptodactyly of fing... ORPHA:1662
Gitelman Syndrome
Neoplasm of the pancreas, Pericardial effusion, Iron deficiency anemia, Varicose veins, Delayed p... ORPHA:358
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Elevated hepatic transaminase, Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Ov... OMIM:619475
Carpenter Syndrome 2
Preaxial polydactyly, Coxa vara, Knee flexion contracture, Cutaneous finger syndactyly, Clinodact... OMIM:614976
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Pes planus, Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Microcephaly... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Pes planus, Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Microcephaly... ORPHA:352665
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Townes-Brocks Syndrome 1
Short metatarsal, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndactyly, 2-3 toe synda... OMIM:107480
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Microretrognathia, Toe syndactyly, Ventricular septal defect, Tapered finger, Microcephaly, Pulmo... ORPHA:459070
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Clinodactyly of the 5th finger, Atrial septal defect, Patent foramen ovale... OMIM:607872
Adams-Oliver Syndrome 1
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Microcephaly, Pu... OMIM:100300
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Thrombocytosis, Leukocytosis, Thrombocytopenia ORPHA:94093
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve, Microcephaly OMIM:619103
Goodpasture Syndrome
Pallor, Anemia, Weight loss OMIM:233450
Johanson-Blizzard Syndrome
Hepatic fibrosis, Clinodactyly of the 5th finger, Atrial septal defect, Hepatomegaly, Short statu... OMIM:243800
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Micrognathia, Kyphosis, Patent ductus arteriosus, Varicose veins, Tetr... OMIM:153400
Costello Syndrome
Hyperextensibility of the finger joints, Redundant neck skin, Short stature, Ventricular septal d... OMIM:218040
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Kyphosis, Bifid femur, Abnormal form of the vertebral bodies, Ap... ORPHA:2769
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Palmoplantar keratoderma, Ventricular septal defect, 2-3 toe syndactyly OMIM:106260
Renpenning Syndrome 1
Ventricular septal defect, Short stature, Micrognathia, Situs inversus totalis, Microcephaly, Nar... OMIM:309500
Goldberg-Shprintzen Syndrome
Ventricular septal defect, Tapered finger, Microcephaly, Increased femoral anteversion, Small han... OMIM:609460
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Foot joint contracture, Dilated cardiomyopathy, Growth delay, Iron deficiency anemia, Palmoplanta... ORPHA:79408
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Intrauterine growth retardation, Pulmonary artery stenosis, Ventricular septal defect OMIM:611812
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Increased T cell count, Weight... ORPHA:797
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Broad toe, Short stature, Ventricular septal defect, Tapered finger, Microcephaly, Short thumb, P... OMIM:619522
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Micrognathia, Coarctation of aorta, Bifid thoracic vertebrae, Foot pol... ORPHA:268249
Opitz Gbbb Syndrome
Growth delay, Umbilical hernia, Ventricular septal defect, Microcephaly OMIM:300000
Tetraamelia Syndrome 2
Microretrognathia, Ventricular septal defect, Micrognathia, Hypoplastic pulmonary veins, Amelia OMIM:618021
Williams-Beuren Syndrome
Bicuspid aortic valve, Atrial septal defect, Clinodactyly of the 5th finger, Short stature, Porta... OMIM:194050
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Short stature, Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclav... ORPHA:438213
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Short stature, Microcephaly, Atrial septal defect, H... OMIM:309801
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Ventricular hypertrophy, Ventricular septal defect ORPHA:369929
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Microcephaly, Pallor, Micrognathia OMIM:253280
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Distal Deletion 19P
Long toe, Arachnodactyly, Ventricular septal defect, Tricuspid valve prolapse, Umbilical hernia, ... ORPHA:96129
Acute Liver Failure
Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, In... ORPHA:90062
Laubry-Pezzi Syndrome
Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic valve, Ventricular se... ORPHA:99094
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Pes planus, Ventricular septal defect, Overlapping toe, Cerebral hemorrhage, Microcephaly, Patent... OMIM:616682
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atrial septal defect, Ventricular septal defect OMIM:610978
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... OMIM:613001
Early Infantile Epileptic Encephalopathy
Ventricular septal defect, Microcephaly, Short finger, Broad finger, Umbilical hernia, Failure to... ORPHA:1934
Exercise-Induced Malignant Hyperthermia
Dry skin, Decreased liver function, Thrombocytopenia, Hepatic failure ORPHA:466650
Ventriculomegaly With Cystic Kidney Disease
Postaxial polydactyly, Ventricular septal defect, Vascular dilatation OMIM:219730
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:536
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Normochromic anemia, Reduced hematocrit, Weight loss ORPHA:91500
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Ventricular septal defect, Patent ductus arteriosus, Short toe, Clinodactyly o... ORPHA:1519
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Pallister-Killian Syndrome
Congenital hip dislocation, Edema of the dorsum of feet, Micrognathia, Camptodactyly of 2nd-5th f... OMIM:601803
Leptospirosis
Hepatomegaly, Pericarditis, Jaundice, Hepatitis, Elevated serum transaminases during infections, ... ORPHA:509
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Thrombocytopenia, Weight loss ORPHA:79078
Yellow Fever
Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminotransferase concentration, ... ORPHA:99829
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Ventricular septal defect, Micrognathia, Metatarsus adductus, Microcephaly, Osteopathia striata, ... ORPHA:513456
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect, Micrognathia OMIM:243440
Genitopatellar Syndrome
Hip contracture, Congenital hip dislocation, Ventricular septal defect, Micrognathia, Microcephal... OMIM:606170
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Overlapping toe, Micrognathia, Hip dislocation, Growth delay, Clinodac... OMIM:613884
Sotos Syndrome
Pedal edema, Increased head circumference, Atrial septal defect, Abnormal vertebral morphology, P... ORPHA:821
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Asplenia, Calcaneovalgus deformity, Long hallux, Long toe, Syndactyly, Sho... ORPHA:261552
Orofaciodigital Syndrome Type 14
Microretrognathia, Broad hallux, Ventricular septal defect, Deviation of the hallux, Microcephaly... ORPHA:434179
Keutel Syndrome
Ventricular septal defect, Short hallux, Premature fusion of phalangeal epiphyses, Short thumb, S... OMIM:245150
Diets-Jongmans Syndrome
Ventricular septal defect, Short stature, Interrupted inferior vena cava with azygous continuatio... OMIM:618846
Orofaciodigital Syndrome Xiv
Microretrognathia, Occipital encephalocele, Ventricular septal defect, Broad hallux, Micrognathia... OMIM:615948
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Redundant skin, Peripheral pulmonary artery stenosis, Cutis laxa OMIM:123700
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
Thoracoabdominal Syndrome
Patent ductus arteriosus, Anencephaly, Transposition of the great arteries, Ectopia cordis OMIM:313850
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Finger syndactyly, Ventricular septal defect, Micrognathia, Palmoplantar keratoderma, Clinodactyl... ORPHA:1071
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Sandal gap, Ventricular septal defect, Microcephaly, Long fingers, Cutaneous syndactyly, Macrocep... OMIM:620330
Congenital Tracheal Stenosis
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypoplastic left... ORPHA:141127
Mowat-Wilson Syndrome
Short stature, Pulmonary artery sling, Ventricular septal defect, Microcephaly, Pulmonary artery ... OMIM:235730
Renal Agenesis
Ventricular septal defect, Talipes equinovarus ORPHA:411709
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Block vertebrae, Micrognathia, Patent ductus ... OMIM:164210
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Patent ductus arteriosus, Ventricular septal defect, Macrocephaly ORPHA:141099
Penile Agenesis
Atrial septal defect, Ventricular septal defect, Bilateral talipes equinovarus ORPHA:49

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 Rpl5

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 Rpl5.

No publications found that use IMPC mice or data for Rpl5.

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