banner
Genes Phenotypes Help, News, Blog

Gene: Myc MGI:97250

Log in to follow

Gene Summary

Name:
myelocytomatosis oncogene
Synonyms:
Niard,  c-myc,  Nird,  Myc2,  bHLHe39

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased prepulse inhibition Mycem1(IMPC)Kmpc HET   Early adult 3.46×10-06
abnormal bone structure Mycem1(IMPC)Kmpc HET   Early adult 2.19×10-05
preweaning lethality, complete penetrance Mycem1(IMPC)Kmpc HOM   Early adult 0.00
short tibia Mycem1(IMPC)Kmpc HET Early adult 3.47×10-06
increased startle reflex Mycem1(IMPC)Kmpc HET Early adult 1.76×10-09
decreased fluid intake Mycem1(IMPC)Kmpc HET Early adult 8.39×10-06
increased grip strength Mycem1(IMPC)Kmpc HET Early adult 6.18×10-05
decreased bone mineral density Mycem1(IMPC)Kmpc HET   Early adult 2.11×10-05
decreased body length Mycem1(IMPC)Kmpc HET Early adult 1.46×10-15
decreased bone mineral content Mycem1(IMPC)Kmpc HET Early adult 1.09×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Forepaw

10 Images

View images
X-ray

XRay Images Skull Lateral Orientation

10 Images

View images
X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
X-ray

XRay Images Hind Leg and Hip

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images
Eye Morphology

Images Slit Lamp

2 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images

Human diseases caused by Myc 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 Myc by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Burkitt Lymphoma
Abnormality of the liver, Abnormal lymph node morphology, Neoplasm of the oral cavity, Abnormalit... ORPHA:543
Burkitt Lymphoma
Burkitt lymphoma OMIM:113970

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells, Defective T cell proliferation, R... OMIM:614493
Lactose Intolerance, Adult Type
Diarrhea, Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Immunodeficiency 105
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... OMIM:619924
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Diarrhea 9
Villous atrophy, Diarrhea OMIM:618168
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Intractable diarrhea, Crypt hyperplasia OMIM:613217
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 24
Decreased proportion of memory B cells, Lymphoproliferative disorder, Decreased CD4:CD8 ratio, De... OMIM:615897
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hepatosplenomegaly, Hemophagocytosis, Anemia, Reduced natural killer cell activity, Granulocytopenia OMIM:608898
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Chronic Diarrhea Due To Glucoamylase Deficiency
Malabsorption, Nausea, Decreased small intestinal mucosa lactase level, Abnormal small intestinal... ORPHA:103907
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Decreased circulating IgG2 level, Decrease... OMIM:615513
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Increased circulating IgE level, Increased circulating IgG level, Increased p... OMIM:618982
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Diarrhea 7, Protein-Losing Enteropathy Type
Diarrhea, Villous atrophy, Protein-losing enteropathy, Vomiting OMIM:615863
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Villous atrophy, Microvillus inclusions, Vomiting, S... OMIM:619445
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Neutrophilia, Hereditary
Neutrophilia, Myelodysplasia, Splenomegaly OMIM:162830
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Impaired lymphocyte transformation wit... OMIM:300400
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Lactase Deficiency, Congenital
Diarrhea, Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Reticular Dysgenesis
Hypoplasia of the thymus, Leukopenia, Lymphopenia, Impaired T cell function, Lack of T cell funct... OMIM:267500
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Leukocytosis, Decreased circulating IgA level, Reduced natural k... OMIM:619281
Syndactyly Type 4
Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Li... ORPHA:93405
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Limb undergrowth, Short tibia, Short 4th metacarpal, Short 3rd metacarpal, Micromelia, Short long... OMIM:118651
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion o... OMIM:615559
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphoproliferative disorder, Partial absence of specific antibody response t... OMIM:618261
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Increased circulating IgE level, Hepatomegaly, Lymph... OMIM:602450
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoproliferative disorder, Decreased lymphocyte apoptosis, Hemolytic anemia, Increased circula... OMIM:614470
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Mediastinal lymphadenopathy, Decreased spe... OMIM:300853
Immunodeficiency 76
Lymphopenia, B-cell lymphoma, B lymphocytopenia, Lymphadenopathy, Splenomegaly, T lymphocytopenia OMIM:619164
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Splenomegaly, Thrombocytopenia, Erythroid hyperplasia, Refractory... OMIM:133180
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Increased circulating IgA level, Cervical lymphadenopathy, Autoimmune thrombo... OMIM:618534
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, B-cell lymphoma, Splenomegaly OMIM:619437
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Lymphadenopathy, Anemia OMIM:312500
Ethanolaminosis
Cardiomegaly OMIM:227150
Mantle Cell Lymphoma
Lymphadenopathy, B-cell lymphoma, Splenomegaly ORPHA:52416
Jejunal Atresia
Jejunal atresia OMIM:243600
Fibular Hemimelia
Oligodactyly, Increased laxity of ankles, Short tibia, Toe syndactyly, Short toe, Fibular aplasia... ORPHA:93323
Acromesomelic Dysplasia 2A
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Pes valgus, Acro... OMIM:200700
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Abnormal immunoglobulin level, Absent tonsils, Decreased proportion of CD3-positive T c... ORPHA:276
Immunodeficiency 16
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia, Kaposi's sarcoma OMIM:615593
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ... OMIM:603909
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Osebold-Remondini Syndrome
Type A brachydactyly, Decreased finger mobility, Hypoplasia of the radius, Short tibia, Broad toe... OMIM:112910
Caspase 8 Deficiency
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:607271
Carcinoma Of Esophagus
Gastroesophageal reflux, Abnormal intestine morphology, Dysphagia, Esophageal neoplasm, Barrett e... ORPHA:70482
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:606843
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... OMIM:619846
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Multiple joint contractures, Skeletal muscle atrophy, Neonata... OMIM:611369
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Abnormal natural killer cell physiology, Thrombocyt... OMIM:613101
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Cervical lymphadenopathy, Decreased circulating IgG level, B lym... OMIM:618987
Acromesomelic Dysplasia 2C
Distal femoral bowing, Hip dislocation, Short thumb, Hypoplasia of the radius, Short tibia, Abnor... OMIM:201250
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short tibia, Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Microm... ORPHA:2098
Immunodeficiency 11
Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu... OMIM:615206
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno... OMIM:617514
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia OMIM:608971
Proprotein Convertase 1/3 Deficiency
Malabsorption, Villous atrophy, Diarrhea OMIM:600955
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Increased ... OMIM:212050
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Steatorrhea, Fat malabsorption, Chronic diarrhea OMIM:613291
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Multiple Intestinal Atresia
Duodenal stenosis, Gastrointestinal atresia ORPHA:2300
Immunodeficiency 48
Panhypogammaglobulinemia, Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Lethal Faciocardiomelic Dysplasia
Radial club hand, Short thumb, Hypoplasia of the radius, Short tibia, Microretrognathia, Short 5t... ORPHA:1972
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Abnormality of B cell physiology, Pure red ... OMIM:613179
Leri-Weill Dyschondrosteosis
Abnormality of the humerus, Abnormal metatarsal morphology, Abnormal carpal morphology, Short tib... OMIM:127300
Invasive Mole
Menometrorrhagia ORPHA:99925
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Protein-losing enteropathy, Duodenitis, Esophagitis, Gastritis, Bl... OMIM:619079
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia ORPHA:46532
Mu-Heavy Chain Disease
Abnormal B cell count, Increased circulating antibody level, Anemia, Hepatomegaly, Lymphadenopath... ORPHA:100024
Lymphoproliferative Syndrome, X-Linked, 1
Hemophagocytosis, Aplastic anemia, Reduced natural killer cell activity, Increased circulating Ig... OMIM:308240
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Facial papilloma, Autoimmune thrombocytopen... OMIM:619220
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Secondary Short Bowel Syndrome
Malabsorption, Steatorrhea, Volvulus, Villous atrophy, Aganglionic megacolon, Abnormal small inte... ORPHA:95427
Mast Cell Sarcoma
Mastocytosis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Sarcoma ORPHA:66661
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Enlarged kidney, Increased circulating antibody... OMIM:615285
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Villous atrophy, Duodenitis OMIM:614328
Eiken Syndrome
Epiphyseal dysplasia, Thin bony cortex, Abnormal bone ossification, Abnormal fingertip morphology... ORPHA:79106
Microvillus Inclusion Disease
Villous atrophy, Diarrhea, Abnormality of small intestinal villus morphology ORPHA:2290
Léri-Weill Dyschondrosteosis
Abnormality of the humerus, Short tibia, Micromelia, Dorsal subluxation of ulna, Diaphyseal thick... ORPHA:240
Scleroderma, Familial Progressive
Abnormality of chromosome stability, Chromosome breakage OMIM:181750
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:619824
Congenital Tufting Enteropathy
Anal atresia, Secretory diarrhea, Malabsorption, Steatorrhea, Villous atrophy, Abnormal large int... ORPHA:92050
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia OMIM:607685
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Increased circulating IgA level, Increased circulating antibody level, Decrea... ORPHA:169154
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Abnormal hemoglobin, Anemia, Thrombocytopenia, Splenomegaly ORPHA:231393
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Increased circulating IgE level, Lymphopenia, B lymphocytopenia, Lack of T cell f... ORPHA:277
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Trehalase Deficiency
Malabsorption, Diarrhea, Vomiting ORPHA:103909
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Acrocapitofemoral Dysplasia
Short distal phalanx of finger, Short tibia, Small finger, Micromelia, Flared iliac wing, Radial ... OMIM:607778
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Absent tonsils, Decreased circulating IgA level, Abnormality of ... OMIM:611926
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Sucrase-Isomaltase Deficiency, Congenital
Malabsorption, Diarrhea OMIM:222900
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Increased ... OMIM:601859
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Generalized lymphadenopathy, Leukopenia, Partial absence of specific antibody... OMIM:618986
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Cernunnos-Xlf Deficiency
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Decreased circulating antibody level, T... ORPHA:169079
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Short tibia, Mesomelia, Short femoral neck, Hypoplasia o... OMIM:249700
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, Decreased circulating IgA ... OMIM:616005
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Fulminant hepatitis, Histiocytosis, Increased circulating IgM level, B lymphocy... ORPHA:2442
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Dysgammaglobulinemia, Lymphadenopathy, Lymphoma, Splenomegaly, Ascites ORPHA:100025
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia, Increased circulating antibody level OMIM:247800
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Breast carcinoma, Hepatomegaly, Lymphadenopathy, B-cell lymphoma, Lymphoma, Splenomegaly ORPHA:86893
Trichohepatoenteric Syndrome 2
Villous atrophy, Colitis, Bloody diarrhea, Diarrhea, Chronic diarrhea OMIM:614602
Ataxia-Pancytopenia Syndrome
Abnormal macrophage morphology, Abnormal platelet function, Abnormality of neutrophils, Hypoplast... ORPHA:2585
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Immunodeficiency, Common Variable, 2
Neoplasm, Hepatomegaly, Decreased circulating IgA level, Impaired T cell function, Follicular hyp... OMIM:240500
Acheiropody
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... OMIM:200500
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Neoplasm of the tongue, Basa... ORPHA:3261
Immunodeficiency 62
Decreased proportion of memory B cells, Decreased circulating total IgM, Reduced isohemagglutinin... OMIM:618459
Autoinflammation With Infantile Enterocolitis
Episodic vomiting, Villous atrophy, Secretory diarrhea, Enterocolitis OMIM:616050
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Hip Dysplasia, Beukes Type
Hip dysplasia, Abnormality of bone mineral density, Osteoarthritis, Broad femoral neck, Abnormali... ORPHA:2114
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Short tibia, Syndactyly, Fibular aplasia, Hand oligodactyly, Tibial bowing OMIM:246570
Hyperbilirubinemia, Shunt, Primary
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... OMIM:237800
Volvulus Of Midgut
Constipation, Neonatal intestinal obstruction, Intestinal malrotation, Volvulus OMIM:193250
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Villous atrophy, Protein-losing enteropathy, Diarrhea, Vomiting OMIM:602579
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:605258
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Failure to thrive, Myopathy ORPHA:91130
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly OMIM:618852
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Steatorrhea, Decreased intestinal transit time, Projectile ... OMIM:615237
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Rickets of the lower limbs, Thin bony cortex, Genu varum, Bulging epiphyses, Bowing of t... OMIM:600785
Kimura Disease
Increased circulating IgE level, Follicular hyperplasia, Lymphadenopathy, Eosinophilia ORPHA:482
Lymphoproliferative Syndrome 1
Lymphoproliferative disorder, Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolyt... OMIM:613011
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of naive CD8 T cells, ... OMIM:301082
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Myelodysplasia, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly... ORPHA:231401
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Tyrosinemia Type 1
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig... OMIM:608106
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Homozygous 11P15-P14 Deletion Syndrome
Diarrhea, Abnormal intestine morphology, Vomiting OMIM:606528
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Complete or near-complete absence of specific antibody re... ORPHA:70593
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Lymphoproliferative disorder, Aplastic anemia, Hemophagocytosis, Hepatomegaly... OMIM:615122
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatosplenomegaly, Abnormal B cell count, Decreased circulating total IgM, Decreased proportion ... ORPHA:331206
Perching Syndrome
Cyanosis, Camptodactyly, Joint contracture OMIM:617055
Vascular Hyalinosis
Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy OMIM:277175
Visceral Myopathy 2
Intestinal malrotation, Gastroesophageal reflux, Megaduodenum, Chronic constipation, Hiatus herni... OMIM:619350
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... ORPHA:231154
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad long bones, Broad femoral head, Broad radial metaphysis, Sclerosis of middle finger phalanx... ORPHA:85188
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Abnormal... OMIM:600802
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Congenital Disorder Of Glycosylation, Type Id
High palate, Bifid uvula, Villous atrophy, Diarrhea, Vomiting OMIM:601110
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thr... OMIM:187950
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication OMIM:188740
Small Bowel Atresia
Jejunal atresia, Intestinal malrotation, Intestinal hypoplasia, Vomiting ORPHA:1201
Trimethylaminuria
Neutropenia, Splenomegaly, Anemia OMIM:602079
Immunodeficiency 25
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... OMIM:610163
Combined Immunodeficiency Due To Dock8 Deficiency
Verrucae, Increased circulating IgE level, Anal canal squamous carcinoma, B lymphocytopenia, Squa... ORPHA:217390
Mesomelic Dysplasia, Savarirayan Type
Hip dislocation, Short tibia, Dislocated radial head, Mesomelia, Abnormal foot morphology, Fibula... OMIM:605274
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Granuloma, Hepatosplenomegaly, Lymphopenia, Thrombocytopenia, Elevated proporti... OMIM:619802
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Decreased circulating total IgM, Enteroviral hepatitis, Anemia, Decreas... OMIM:300755
Bare Lymphocyte Syndrome, Type Ii
Malabsorption, Villous atrophy, Colitis, Protracted diarrhea OMIM:209920
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Increased circulating IgM level, Increas... OMIM:209950
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Refractory Celiac Disease
Malabsorption, Villous atrophy, Protein-losing enteropathy, Jejunitis, Chronic diarrhea ORPHA:398063
Schnitzler Syndrome
Leukocytosis, Anemia, Hepatomegaly, Increased circulating IgM level, Lymphadenopathy, Lymphoma, S... ORPHA:37748
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating total IgM, Decreased circulating Ig... OMIM:619510
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Short femur, Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypop... OMIM:612447
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG lev... OMIM:618495
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia, Decreased circulating antibody level OMIM:616873
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Hepatomegaly,... OMIM:619375
Tibial Hemimelia
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Increased laxity of ankle... ORPHA:93322
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Alpha-Thalassemia
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Myelodysplasia, Microcytic anemia, Hyper... ORPHA:846
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly OMIM:618963
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Gray Platelet Syndrome
Thrombocytopenia, Myelodysplasia, Splenomegaly ORPHA:721
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Orofaciodigital Syndrome Type 10
Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Hypoplasia o... ORPHA:2756
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... ORPHA:75564
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgA level, Transient neutropenia, Absent c... OMIM:619707
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia,... OMIM:608184
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615617
Immunodeficiency 70
Decreased circulating total IgM, Verrucae, Decreased circulating total IgA, Decreased circulating... OMIM:618969
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Short Rib-Polydactyly Syndrome
Abnormal long bone morphology, Polydactyly, Absent or minimally ossified vertebral bodies, Short ... ORPHA:1505
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis OMIM:269600
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Splenomegaly, Fetal ascites OMIM:619462
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Decreased circulat... ORPHA:859
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, Reduced natural killer cell cou... OMIM:618108
Endove Syndrome, Limb-Only Type
3-4 finger syndactyly, Triangular tibia, Disproportionate shortening of the tibia, Short middle p... OMIM:619217
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic... OMIM:619313
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Acute lymphoblastic leukemia, Nephroblastoma, Acute myeloid leukemia, Hepatospl... ORPHA:158057
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Abnormal circulating IgG l... OMIM:300291
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Increased circulating IgE level, Increased circulating IgM level, Reduc... OMIM:617241
Meige Disease
Atypical scarring of skin, Lymph node hypoplasia, Cellulitis, Absence of lymph node germinal center ORPHA:90186
T-Cell Immunodeficiency With Thymic Aplasia
Hepatosplenomegaly, Lymphopenia, Reduced delayed hypersensitivity, Abnormally low T cell receptor... OMIM:242700
Hodgkin Lymphoma
Neoplasm, Hepatomegaly, Lymphadenopathy, Lymphoma, Splenomegaly ORPHA:98293
Follicular Lymphoma
Abnormality of the peritoneum, Lymphadenopathy, Lymphoma, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Intrauterine growth retardation ORPHA:89844
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Anencephaly, Hypoplastic left heart, Spina bifida ORPHA:2476
Postsynaptic Congenital Myasthenic Syndromes
Shoulder girdle muscle weakness, Type 1 muscle fiber predominance, Triceps weakness, Skeletal mus... ORPHA:98913
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Ectrodactyly, Bifid femur, Hand monodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption OMIM:221400
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Absent circulating B cells, Aga... OMIM:613500
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly OMIM:224100
Agammaglobulinemia 3, Autosomal Recessive
Absent isohemagglutinin level, Abnormal T cell morphology, Absent circulating B cells, Agammaglob... OMIM:613501
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia OMIM:601457
Weismann-Netter Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Ab... ORPHA:3344
Pancreatic Colipase Deficiency
Steatorrhea, Cholelithiasis, Fat malabsorption, Chronic diarrhea, Exocrine pancreatic insufficiency ORPHA:309108
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Short ... OMIM:612576
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption OMIM:607748
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating total IgM, Decreased circulating Ig... OMIM:618394
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... ORPHA:90362
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures, ... OMIM:166740
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Slc35A2-Cdg
Craniosynostosis, Camptodactyly of finger, Abnormal long bone morphology, Short tibia, Coxa valga... ORPHA:356961
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Immunodeficiency With Hyper-Igm, Type 1
Chronic hepatitis, Hemolytic anemia, Hepatomegaly, Increased circulating IgM level, Sclerosing ch... OMIM:308230
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly... OMIM:603552
Tibial Aplasia-Ectrodactyly Syndrome
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Short femur,... ORPHA:3329
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Lymphadenopathy, Splenome... OMIM:150550
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Increased mitochondrial number OMIM:619063
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepato... OMIM:616100
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis OMIM:610293
Stuve-Wiedemann Syndrome 1
Clubbing, Pathologic fracture, Absent patellar reflexes, Contracture of the proximal interphalang... OMIM:601559
Netherton Syndrome
Recurrent infection of the gastrointestinal tract, Intestinal atresia, Villous atrophy OMIM:256500
Spherocytosis, Type 5
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Hemolytic anemia, Decreased specific anti-polysaccha... OMIM:606367
Epidermodysplasia Verruciformis, Susceptibility To, 5
Verrucae, Squamous cell carcinoma of the skin, Lymphopenia, T lymphocytopenia OMIM:618309
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Flattened epiphysis, Rhizomelia, Dislocated radial head, Knee flexion contr... ORPHA:166016
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Immunodeficiency 42
Hypoplasia of the thymus, Hepatomegaly, Splenomegaly OMIM:616622
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Thrombo... OMIM:301078
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Chronic diarrhea, Villous atrophy OMIM:304790
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Lymphadenopathy, Hematological neoplasm, Mastocytosi... ORPHA:98848
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 68
Abscess, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Leukopenia, Hepatomegaly, Lymphopenia, Decreased circulating IgG... OMIM:620210
Gracile Bone Dysplasia
Hypoplastic spleen, Short stature, Asplenia, Failure to thrive OMIM:602361
Bent Bone Dysplasia Syndrome 2
Short 1st metacarpal, Short lower limbs, Arthrogryposis multiplex congenita, Short ribs, Short ti... OMIM:620076
Caffey Disease
Calvarial hyperostosis, Subperiosteal bone formation, Cortical irregularity, Joint hypermobility,... OMIM:114000
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Renal cortical adenoma, Papillary renal cell carcinoma, Colon cancer, Breast carcinoma, Papillary... ORPHA:97290
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
N Syndrome
Abnormality of chromosome stability OMIM:310465
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Overlapping toe, Short tibia, Micrognathia, 11 pairs of ribs, Clinodactyly, Fibular... OMIM:201170
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Hepatosplenomegaly, Decreased circulating total IgM, Impaired lymphocyte transformation with phyt... ORPHA:35078
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Rectovaginal fistula OMIM:612567
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Broad foot, Triphala... OMIM:135750
Neuralgic Amyotrophy
Acrocyanosis, Scapular winging ORPHA:2901
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic steatosis OMIM:614480
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:612692
Immunodeficiency 13
Decreased CD4:CD8 ratio, Lymphopenia, B lymphocytopenia, Decreased proportion of CD4-positive hel... OMIM:615518
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatomegaly, Hepatitis, Pancytopenia, Decreased circulating a... OMIM:300635
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Fanconi Anemia, Complementation Group T
Chromosomal breakage induced by crosslinking agents OMIM:616435
Sézary Syndrome
Abnormal immunoglobulin level, Cutaneous T-cell lymphoma, Abnormal lymphocyte morphology, Hepatom... ORPHA:3162
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents OMIM:605724
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Progressive Familial Intrahepatic Cholestasis
Jaundice, Neoplasm, Cholestasis, Hepatomegaly, Splenomegaly ORPHA:172
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, Ascites OMIM:271500
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Increased intestinal transit time, Villous atrophy, Episodic vomiting,... OMIM:619377
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Intrauterine growth retardation, Perimembranous ventricular septal defect, ... OMIM:620135
Chylous Ascites
Abnormal intestine morphology ORPHA:1160
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Leishmaniasis
Abnormal macrophage morphology, Leukopenia, Increased circulating antibody level, Anemia, Hepatom... ORPHA:507
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... OMIM:615631
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Hepatomegaly, Abnormal circulating IgG level, Eosinophilia, Thr... OMIM:226990
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Microcephaly-Micromelia Syndrome
Craniosynostosis, Oligodactyly, Forearm undergrowth, Absent radius, Missing ribs, Short tibia, Mi... OMIM:251230
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Classic Mycosis Fungoides
Cutaneous T-cell lymphoma, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Lymphom... ORPHA:2584
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Stormorken Syndrome
Hypoplastic spleen, Asplenia, Anemia, Short stature, Thrombocytopenia, Howell-Jolly bodies OMIM:185070
Burkitt Lymphoma
Abnormality of the liver, Abnormal lymph node morphology, Neoplasm of the oral cavity, Abnormalit... ORPHA:543
Obesity-Hypoventilation Syndrome
Cyanosis, Obesity OMIM:257500
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Hematochezia, Protein-losing enteropathy ORPHA:103910
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Short lower limbs, Genu varum, Flattened epiphysis, Metaphyseal irregularity... ORPHA:93356
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... OMIM:612840
Cryohydrocytosis
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:185020
Breath-Holding Spells
Cyanosis OMIM:607578
Galactosemia Iii
Jaundice, Hepatomegaly, Splenomegaly OMIM:230350
Immunodeficiency 54
Chromosome breakage OMIM:609981
Orofaciodigital Syndrome Iv
Short finger, Hand polydactyly, Postaxial polydactyly, Short tibia, Toe syndactyly, Micrognathia,... OMIM:258860
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... OMIM:228930
Wiskott-Aldrich Syndrome
Increased circulating IgA level, Decreased circulating total IgM, Impaired lymphocyte transformat... OMIM:301000
Mirage Syndrome
Hypoplastic spleen, Leukopenia, Anemia, Intrauterine growth retardation, Lymphopenia, Short statu... OMIM:617053
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Anemia, Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:607616
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia, Hepatomegaly ORPHA:1759
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Lymphocytosis, Pancytopenia, Acute myelomonocytic leukemia, Splenome... ORPHA:86843
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocyto... ORPHA:3226
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega... OMIM:616860
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Intestinal malrotation, Intestinal pseudo... OMIM:300048
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Autoimmune hemolyt... ORPHA:911
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Decreased proportion of memory B cells, Jaundice, Abnormal lymphocyte count, ... ORPHA:79124
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Jaundice, Hepatomegaly, Splenomegaly OMIM:620010
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Cervical intraepithelial neoplasia, Myelodysplasia, Re... OMIM:614172
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia OMIM:617441
Microphthalmia With Limb Anomalies
Hip dislocation, Short tibia, Toe syndactyly, Broad thumb, Tibial bowing, Foot oligodactyly, Post... ORPHA:1106
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... ORPHA:766
Immunodeficiency By Defective Expression Of Mhc Class Ii
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... ORPHA:572
Fanconi Anemia, Complementation Group O
Chromosome breakage OMIM:613390
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Increased circulating IgA level, Increased CD4:CD8 ratio,... OMIM:618048
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary renal cell carcinoma, Colon cancer, Papillary thyroid carcinoma, Chronic noninfectious ... ORPHA:319487
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Villous atrophy, Colitis, Atrophic gastritis, Chronic diarrhea OMIM:614700
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Hematochezia, Malabsorption, Steatorrhea, Protein-losi... ORPHA:2070
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Decreased circulating total IgM, Complete or near-complete absence of specifi... OMIM:301081
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Abnormality of fibula morphology, Synostosis of carpal bones, Aplasia/Hypoplasi... ORPHA:988
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hepatomegaly, Hypersplenism, Thrombocytopenia, Splenomegaly OMIM:610539
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Anemia, Reduced natural killer cell activity, Thrombocytopenia, Decreased circu... ORPHA:540
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... OMIM:616689
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Atelosteogenesis Type Iii
Abnormality of the humerus, Hip dislocation, Absent radius, Laryngotracheomalacia, Short tibia, P... ORPHA:56305
Classic Hodgkin Lymphoma
Neoplasm, Bone marrow hypocellularity, Hepatomegaly, Lymphadenopathy, Lymphoma, Splenomegaly ORPHA:391
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Hydrocephalus OMIM:300886
Immunodeficiency 92
Cholangitis, Decreased proportion of class-switched memory B cells, Leukocytosis, Partial absence... OMIM:619652
Immunodeficiency 31C
Villous atrophy, Gastrointestinal eosinophilia, Protein-losing enteropathy, Intussusception, Diar... OMIM:614162
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Anteriorly placed anus, Duodenal atresia, Malabsorption, Jejunal atresia, ... OMIM:615710
Frontal Encephalocele
Encephalocele, Spina bifida, Hydrocephalus ORPHA:1931
Aicardi-Goutieres Syndrome 6
Thrombocytopenia, Hepatomegaly, Splenomegaly, Hemolytic anemia OMIM:615010
Congenital Toxoplasmosis
Cardiomegaly, Intrauterine growth retardation, Hepatomegaly, Hydrocephalus ORPHA:858
Acromesomelic Dysplasia 2B
Deviation of finger, Absent toe, Rhizomelia, Short metatarsal, Short metacarpal, Patellar disloca... OMIM:228900
Stormorken-Sjaastad-Langslet Syndrome
Short stature, Asplenia, Anemia ORPHA:3204
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Neut... OMIM:615387
Hermansky-Pudlak Syndrome 2
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Reduced natural killer cell activity, Reduced natura... OMIM:608233
Desmoplastic Small Round Cell Tumor
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Anemia, Neoplasm of the pancreas, Neo... ORPHA:83469
Spherocytosis, Type 4
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612653
Laurin-Sandrow Syndrome
Limb duplication, Absent radius, Absent tibia, Finger syndactyly, Aplasia/Hypoplasia of the thumb... ORPHA:2378
Congenital Bile Acid Synthesis Defect Type 1
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... ORPHA:79301
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Aplasia of the 3rd finger, Absent tibia, Hand monodactyly, Short hallux, Aplasi... OMIM:119100
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... OMIM:314050
Hemochromatosis, Type 2B
Anemia, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Splenomegaly OMIM:613313
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Reticulocytosis, Normocytic anemia, Cholecystitis, Normochromic anemia, Nonspherocytic ... OMIM:235700
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Absent ci... OMIM:619705
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hip dislocation, Proximal placement of thumb, Short metatarsal, Preaxial foot polydactyly, Toe sy... OMIM:609945
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Failure to thrive OMIM:263000
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Recurrent tonsillitis, Hemolytic anemia, Impaired oxidative burst, Abscess, G... OMIM:618935
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Neonatal death, Hypertrophic cardiomyopathy OMIM:614096
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Mitral valve prolapse, Spina bifida OMIM:211960
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Leukopenia, Hemophagocytosis, Anemia, Reduced natural killer cell activity, T... OMIM:603553
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip dislocation, Short thumb, Proximal placement of thumb, Tibial deviation of toes, Short tibia,... OMIM:268305
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Sea-Blue Histiocytosis
Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Splenomegaly ORPHA:158029
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Intermittent jaundice, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular... ORPHA:3203
Griscelli Syndrome
Jaundice, Leukopenia, Abnormality of neutrophils, Bone marrow hypocellularity, Hepatomegaly, Hepa... ORPHA:381
Bardet-Biedl Syndrome 9
Polyphagia, Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Polydipsi... OMIM:615986
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Folate-dependent fragile site at Xq28 ORPHA:85327
Disorder Of Bile Acid Synthesis
Fat malabsorption ORPHA:79168
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Splenomegaly OMIM:619658
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis morphology, Tibial bowin... ORPHA:2768
Immunodeficiency 32A
Lymphadenopathy, Granuloma, Lymphadenitis OMIM:614893
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Bone marrow hypocellularity, Myelodysplasia, Lymphopenia, Pancytopenia, Abnormally low T cell rec... OMIM:619767
Primary Myelofibrosis
Hemangioma, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly,... ORPHA:824
Weismann-Netter Syndrome
Calvarial hyperostosis, Lateral femoral bowing, Anterior tibial bowing, Fibular bowing, Squared i... OMIM:112350
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Orofaciodigital Syndrome Ix
Hand polydactyly, Toe syndactyly, Camptodactyly, Short tibia OMIM:258865
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect, Atrial septal defect, Intra... OMIM:611134
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Abnormal lymphocy... ORPHA:100026
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Malabsorption, Gastroparesis, Spontaneous esophageal p... ORPHA:1876
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short ribs, Rhizomelia, Short tibia, Short femur, Talipes equinovarus, Hypoplasia ... OMIM:607143
Spherocytosis, Type 2
Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly OMIM:616649
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Spherocytosis, Type 1
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly OMIM:182900
Omenn Syndrome
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosinophilia, Thrombocy... OMIM:603554
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Decreased circulating IgG2 level, Reduced red cell adenosine dea... OMIM:102700
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Shortening of the talar neck, Osteoarthritis, Osteomalacia, Hypophosphatemic rickets, Tr... OMIM:307800
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Absent tibia, Bifid femur, Hand monodactyly, Foot monodactyly, Split hand OMIM:228250
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Situs inversus totalis, Spinal dysraphism, Hydrocephalus, Meningocele, Ventricular... ORPHA:1908
Glut1 Deficiency Syndrome 2
Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612126
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... OMIM:619849
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Martinez-Frias Syndrome
Pancreatic hypoplasia, Intestinal hypoplasia, Duodenal atresia, Hypoplasia of the gallbladder, Je... OMIM:601346
Pgm3-Cdg
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Leukopenia... ORPHA:443811
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Splenomegaly, Cirrhosis OMIM:613490
Hereditary Methemoglobinemia
Cyanosis, Small for gestational age ORPHA:621
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Hepatic fibrosis, Hepatomegaly, Portal fibrosis, Portal hypertension, Iron deficiency a... OMIM:616278
Elliptocytosis 1
Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia OMIM:611804
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Immunodeficiency 43
Lung abscess, Reduced natural killer cell count, Decreased circulating IgG level, B lymphocytopen... OMIM:241600
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
Pearson Marrow-Pancreas Syndrome
Malabsorption, Steatorrhea, Villous atrophy, Pancreatic fibrosis, Vomiting, Chronic diarrhea, Exo... OMIM:557000
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Flat acetabular roof, Rhizomelia, Short tibia, Short... OMIM:616300
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
Cholestasis-Lymphedema Syndrome
Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis, Splenomegaly OMIM:214900
Mednik Syndrome
Abnormal intestine morphology ORPHA:171851
Cholestasis-Lymphedema Syndrome
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... ORPHA:1414
Mungan Syndrome
Megaduodenum, Hypoperistalsis, Gastroparesis, Barrett esophagus, Intestinal pseudo-obstruction OMIM:611376
Encephalopathy, Ethylmalonic
Petechiae, Death in infancy, Acrocyanosis, Failure to thrive OMIM:602473
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Hemolytic anemia, Asplenia, Hepatomegaly, Growth delay, Lymphadenopathy... OMIM:614034
Mesomelic Dysplasia, Savarirayan Type
Hip dislocation, Hypoplasia of proximal radius, Mesomelia, Fibular aplasia, Glenoid fossa hypopla... ORPHA:85170
Amyloidosis, Familial Visceral
Cholestasis, Hepatomegaly, Splenomegaly OMIM:105200
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bactericidal acti... OMIM:613470
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Thin bony cortex, Bulging epiphyses, Delayed epiphyseal ossification, Metaphyseal irregu... OMIM:600081
Microphthalmia, Syndromic 9
Inguinal hernia, Hypoplastic spleen, Severe short stature, Multilobulated spleen, Intrauterine gr... OMIM:601186
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Hepatomegaly, Portal fibrosis, Splenomegaly, Acholic stools OMIM:619868
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia ORPHA:56425
Eosinophilic Fasciitis
Acrocyanosis, Myositis, Muscular edema, Weight loss ORPHA:3165
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Malformation ... OMIM:616217
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly ORPHA:2204
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus ORPHA:945
Neural Tube Defects, Susceptibility To
Myelomeningocele, Anencephaly, Spina bifida occulta, Hydrocephalus OMIM:182940
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Thin bony cortex, Bulging epiphyses, Osteomalacia, Hypophosphatemic rickets, Delayed epi... OMIM:300554
Ataxia-Telangiectasia
Hypoplasia of the thymus, Decreased circulating IgG2 level, Leukemia, Acute lymphoblastic leukemi... OMIM:208900