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Gene: Kif16b MGI:1098240

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Gene Summary

Name:
kinesin family member 16B
Synonyms:
N-3 kinesin,  8430434E15Rik

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
abnormal seminal vesicle morphology Kif16bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skin morphology Kif16bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal duodenum morphology Kif16bem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Kif16bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal colon morphology Kif16bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Kif16bem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Kif16bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Kif16bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skeletal muscle morphology Kif16bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal eye morphology Kif16bem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal digit morphology Kif16bem1(IMPC)Ccpcz HOM Early adult 5.65×10-13
abnormal heart morphology Kif16bem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Kif16bem1(IMPC)Ccpcz HOM Early adult 0.00
small seminal vesicle Kif16bem1(IMPC)Ccpcz HOM Early adult 0.00

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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 Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

28 Images

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X-ray

XRay Images Hind Leg and Hip

28 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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Human diseases caused by Kif16b mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Kif16b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Ethanolaminosis
Cardiomegaly OMIM:227150
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy ORPHA:52416
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Split hand, Foot polydactyly, Duodenal atresia, Phocomelia ORPHA:3004
Alpha-Heavy Chain Disease
Ascites, Abnormal small intestine morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Type 1 muscle fiber predomi... OMIM:618654
Ghosal Hematodiaphyseal Dysplasia
Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abnormal femur morphology, Spl... ORPHA:1802
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Intestinal malrotation, Lymphopenia, Leukocytosis, ... OMIM:243150
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Palmop... ORPHA:2198
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Duodenal atresia, Polysplenia, Intestinal malrotation, Situs inversus totalis, Partial atrioventr... OMIM:619608
Feingold Syndrome
Deviation of the 2nd finger, Toe syndactyly, Annular pancreas, Abnormality of the spleen, Hallux ... ORPHA:1305
Fanconi Anemia, Complementation Group W
Absent thumb, Polysplenia, Decreased response to growth hormone stimulation test, Hypoplasia of t... OMIM:617784
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Ventricular septal defect, Intestinal atresia, Anemia, Duode... ORPHA:3405
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Immunodeficiency 104
Gastroesophageal reflux, Splenomegaly, Lymphadenopathy, Hepatomegaly, T lymphocytopenia OMIM:608971
Autoinflammatory Disease, Familial, Behcet-Like 3
Vaginal mucosal ulceration, Ileitis OMIM:618287
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Infantile Sialic Acid Storage Disease
Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, High palate, Metaphyse... OMIM:269920
Adams-Oliver Syndrome 6
Hepatic fibrosis, Foot oligodactyly, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventr... OMIM:616589
Congenital Contractural Arachnodactyly
Congenital contracture, Arthrogryposis multiplex congenita, Camptodactyly of finger, Intestinal m... ORPHA:115
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Hypogonadism, Splenomegaly, Joint contracture, Hepatomegaly, Flexion contracture OMIM:608540
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Absent thumb, Short thumb, Microphallus, Decreased response to growt... OMIM:603467
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Congenital hip dislocation, Cardiomyopath... OMIM:300280
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T lymphocytopenia OMIM:619164
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Overlapping fingers, Femoral bowing, Ventricular ... OMIM:617022
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormal metaphysis morphology, Splenomegaly ORPHA:417
Hemochromatosis, Type 1
Cardiomyopathy, Ascites, Azoospermia, Splenomegaly, Cardiomegaly, Hepatomegaly, Hypogonadotropic ... OMIM:235200
Mitchell-Riley Syndrome
Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ... OMIM:615710
Immunodeficiency 115 With Autoinflammation
Skeletal muscle atrophy, Lower limb muscle weakness, Intestinal lymphangiectasia, Splenomegaly, D... OMIM:620632
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Fanconi Anemia, Complementation Group B
Bilateral radial aplasia, Aplastic anemia, Absent thumb, Hypogonadism, Ventricular septal defect,... OMIM:300514
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Fryns Syndrome
Short distal phalanx of finger, Gastroesophageal reflux, Intestinal malrotation, Tetralogy of Fal... ORPHA:2059
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Colitis ORPHA:88643
Neuraminidase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Ascites, Epiphyseal stippling, Splenomegaly, Cardiomegal... OMIM:256550
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... OMIM:306955
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ven... OMIM:602782
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Pulmonic stenosis, Bra... OMIM:616028
Feingold Syndrome 1
Accessory spleen, Annular pancreas, Tricuspid stenosis, Polysplenia, Short toe, Short thumb, Shor... OMIM:164280
Congenital Toxoplasmosis
Ascites, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice ORPHA:858
Hemochromatosis, Type 2B
Hepatic fibrosis, Cardiomyopathy, Hypogonadism, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia OMIM:613313
Fryns Syndrome
Joint contracture of the hand, Cryptorchidism, Ventricular septal defect, Atrial septal defect, A... OMIM:229850
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Roifman Syndrome
Short toe, Irregular femoral epiphysis, Splenomegaly, Hip contracture, Ventricular septal defect,... OMIM:616651
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Sandal gap, Ascites, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias ORPHA:1046
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Gaucher Disease Type 2
Hepatomegaly, Flexion contracture, Dysphagia, Splenomegaly ORPHA:77260
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Skeletal muscle atrophy, Splenomegaly, Talipes equin... OMIM:616719
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Intestinal malrotation, Camptodactyly of finger, Abnormal tricuspid valve morp... ORPHA:1759
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Erlenmeyer flask deformity of the femurs, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytop... OMIM:610539
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Feingold Syndrome Type 1
Toe syndactyly, Tricuspid stenosis, Short thumb, Abnormal heart morphology, Short middle phalanx ... ORPHA:391641
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Int... ORPHA:210122
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Proximal femoral metaphyseal irregularity, Splenomegaly, Narrow greater sciatic notch... OMIM:602271
Coproporphyria, Hereditary
Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyrin III:coproporphyrin... OMIM:121300
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, ... OMIM:300635
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Gastric varix, Splenomegaly, Hepatocellular carcinoma OMIM:613490
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Co... OMIM:613101
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Cholestasis, Ascites, Cryptorchidism, Hepatomegaly, Perimembranous ve... OMIM:608104
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abno... ORPHA:79301
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism,... OMIM:602390
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Contractures of the large joints, Protruding tongue, Mitral valve prolapse... ORPHA:324410
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... OMIM:618652
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Limb undergrowth, Abnormal limb bone morphology, Splenomegaly ORPHA:2204
Down Syndrome
Protruding tongue, Acute megakaryocytic leukemia, Ventricular septal defect, Bilateral single tra... ORPHA:870
Duodenal Atresia
Annular pancreas, Duodenal atresia, Abnormality of the pancreas ORPHA:1203
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Tendon rupture, A... ORPHA:85451
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Increased variability in muscle fiber diameter, Cardiomegaly OMIM:614096
Intellectual Developmental Disorder, Autosomal Recessive 41
Prominent fingertip pads, Splenomegaly, Hepatomegaly, Clinodactyly of the 5th finger, High palate OMIM:615637
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Splenomegaly, Abnormal intestine morphology, Lymphadenopathy, Intestinal l... ORPHA:397596
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Palmoplantar keratoderma, Syndactyly OMIM:613576
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepa... ORPHA:1655
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Genu valgum, Cryptorchidism, Ventricular septal defect, Gastrointestinal ... OMIM:617798
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber predominance, Congenital contracture, Thymus hyperplasia, Arachnodactyly, Typ... OMIM:619036
Isolated Anencephaly
Thymus hyperplasia, Congenital diaphragmatic hernia ORPHA:563609
Cholesteryl Ester Storage Disease
Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophageal varix ORPHA:75234
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased muscle mass, Portal hypertension, Splenomegaly, Cardiomegaly, Hepatomeg... ORPHA:465508
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly OMIM:614480
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Fractured radius, Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular diameter, Asc... OMIM:616897
Dextrocardia
Congenital hip dislocation, Meckel diverticulum, Pancreatic hypoplasia, Abnormality of abdominal ... ORPHA:1666
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Pancreatic lymphangiectasis, Ascites, Cryptorchidism, Splenomegaly, V... OMIM:235255
Oculoskeletodental Syndrome
Protein-losing enteropathy, Elbow flexion contracture, Cryptorchidism, Splenomegaly, Hepatomegaly... OMIM:618440
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Ane... OMIM:603552
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Skeletal muscle atrophy, Hepatosplenomegaly, Splenomegaly, Prolonged n... OMIM:616828
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Cantu Syndrome
Congenital hypertrophy of left ventricle, Erlenmeyer flask deformity of the femurs, Broad hallux,... OMIM:239850
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Splenomegaly, ... ORPHA:2930
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy, Neutropenia, Abnormal T cell morphology OMIM:613502
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno... ORPHA:64743
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Ventricular septal defect, Bicuspid aortic valve, Atrial se... OMIM:265380
Townes-Brocks Syndrome 1
Broad thumb, Cryptorchidism, Pseudoepiphyses of second metacarpal, Ventricular septal defect, Atr... OMIM:107480
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Microgastria-Limb Reduction Defect Syndrome
Elbow dislocation, Abnormality of the spleen, Esophagitis, Perineal fistula, Abnormal metacarpal ... ORPHA:2538
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intestinal malrotation, Splenomegaly, Tibial bowing, Lower limb undergrowth, Bowin... ORPHA:3035
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice OMIM:619868
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Stromme Syndrome
Accessory spleen, Preaxial polydactyly, Intestinal malrotation, Myopathy, Jejunal atresia, Duoden... OMIM:243605
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Abnormal heart morphology, Cryptorchidism, Single transverse palma... OMIM:247200
Mulibrey Nanism
Microglossia, Ascites, Single transverse palmar crease, Cardiomegaly, Thickened cortex of long bo... OMIM:253250
Alg6-Cdg
Protein-losing enteropathy, Abnormality of the liver, Jaundice, Brachydactyly, Macroglossia, Shor... ORPHA:79320
Jacobsen Syndrome
Aortic valve stenosis, Bone marrow hypocellularity, Hypoplastic left heart, Toe syndactyly, Annul... ORPHA:2308
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, C... OMIM:235510
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Congenital diaphragmatic hernia, Ventricul... ORPHA:139466
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... OMIM:619079
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... OMIM:620367
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato... ORPHA:93476
Distal Deletion 12Q
Overlapping toe, Large hands, Duodenal atresia, High, narrow palate, Congenital hypertrophy of le... ORPHA:96149
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Tetralogy of Fallot, Abnormal heart morphology, Part... ORPHA:2847
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Cryptorchidism, Short sternum, Pulmonic stenosis, Embryonal rhabdomyosarcoma, Ambi... OMIM:257300
Wolman Disease
Ascites, Splenomegaly, Hepatomegaly, Anemia, Steatorrhea, Bone-marrow foam cells, Esophageal varix ORPHA:75233
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis ORPHA:2414
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Fat malab... OMIM:601847
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Prostate c... ORPHA:158057
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis ORPHA:664
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Gastroesophageal reflux, Hepatocellular necrosis, Hypertrophic cardiomyopath... OMIM:201475
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femoral head, Lymphadenopathy, ... OMIM:209950
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100024
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... ORPHA:848
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Abdominal situs inversus, Intestinal malrotation, Atriov... OMIM:270100
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Decreased carnitine level in liver, Endocardial fibr... OMIM:212140
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Fibular apl... OMIM:274000
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Microform Holoprosencephaly
Tetralogy of Fallot, Panhypopituitarism, EMG: myopathic abnormalities, Ambiguous genitalia, Hypop... ORPHA:280200
Joubert Syndrome 33
Splenomegaly, Syndactyly OMIM:617767
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Acromesomelia, Gastroesophageal reflux, Toe syndactyly, Breast hypoplasia,... ORPHA:464306
Focal Dermal Hypoplasia
Gastroesophageal reflux, Toe syndactyly, Finger syndactyly, Coarse metaphyseal trabecularization,... ORPHA:2092
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis OMIM:610293
Mosaic Variegated Aneuploidy Syndrome
Muscular dystrophy, Rhabdomyosarcoma, Ascites, Vaginal neoplasm, Stomach cancer, Intestinal polyp... ORPHA:1052
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... ORPHA:615
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Clinodactyly, Decreased response to growth hormone stimulation test, Single transvers... OMIM:614114
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Cholestasis, Genu valgum, Splenomegaly, Ventricular septal defect, Brachydactyl... OMIM:615630
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Villous atrophy, Splenomegaly, Enterocolitis, Th... OMIM:616050
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Portal hypertension, Splenome... ORPHA:131
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Spondyloocular Syndrome
Overlapping toe, Mitral valve prolapse, Arachnodactyly, Femur fracture, Long toe, Atrial septal d... OMIM:605822
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Splenomegaly, Lipogranulomatosis, Osteolytic defects of t... OMIM:228000
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Clinodactyly, Intestinal ... ORPHA:1199
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Hepatomegaly, Cirrhosis, Acholic st... OMIM:607765
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Secondary Short Bowel Syndrome
Volvulus, Cholestasis, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolo... ORPHA:95427
Mogs-Cdg
Hepatosplenomegaly, External genital hypoplasia, Overlapping fingers, Cardiomegaly, Left ventricu... ORPHA:79330
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Myopathy, Neutropenia... OMIM:612541
Developmental And Epileptic Encephalopathy 95
Short distal phalanx of finger, Short fourth metatarsal, Clinodactyly of the 5th finger, Cryptorc... OMIM:618143
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, S... OMIM:612714
Glycogen Storage Disease Ixb
Hepatomegaly, Increased muscle glycogen content, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilo... OMIM:615234
Matthew-Wood Syndrome
Annular pancreas, Abnormality of the uterus, Duodenal stenosis, Cryptorchidism, Congenital diaphr... ORPHA:2470
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice OMIM:619658
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Thro... OMIM:300048
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Harderoporphyria
Increased fecal harderoporphyrin, Splenomegaly, Reticulocytosis, Prolonged neonatal jaundice, Hep... OMIM:618892
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Anal fissure, Lymphopenia, Hepatospleno... OMIM:618935
Fetal Gaucher Disease
Arthrogryposis multiplex congenita, Abnormality of the spleen, Pancytopenia, Splenomegaly, Thromb... ORPHA:85212
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
American Trypanosomiasis
Cardiomyopathy, Splenomegaly, Aganglionic megacolon, Achalasia, Lymphadenopathy, Myocarditis, Hep... ORPHA:3386
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Intestinal malrotation, Neoplasm of the heart, Cryptorchidism, Abnormality of the gas... ORPHA:2241
Fg Syndrome Type 1
Small pituitary gland, Abnormal large intestine morphology, Gastroesophageal reflux, Finger synda... ORPHA:93932
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Genu valgum, Congenital diaphragmatic hernia, Mitral valve prolapse, Bicuspi... OMIM:245600
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Ankle flexion contracture, Gastroesophageal reflux, Short toe, Cryptorchid... ORPHA:464311
Alg1-Cdg
Abnormal heart morphology, Protein-losing enteropathy, Abnormality of the gastrointestinal tract,... ORPHA:79327
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,... OMIM:613320
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Jejunitis, Microcytic anemia, Villous atrophy, Abn... ORPHA:398063
Eosinophilic Gastroenteritis
Protein-losing enteropathy, Hematochezia, Ascites, Leukocytosis, Anemia, Abnormality of the gastr... ORPHA:2070
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Lymphopenia, Lymphocytic infiltration of the colorectal mucosa, Autoimmune he... OMIM:616100
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Distal upper li... ORPHA:268
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of... ORPHA:231226
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... OMIM:616860
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho... OMIM:208540
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Total absence of the pericardium, Hypoplastic tricuspid valve, Pan... OMIM:600001
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Cholestasis-Lymphedema Syndrome
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice OMIM:214900
Polycythemia Vera
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... OMIM:263300
Osteopetrosis, Autosomal Dominant 3
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly OMIM:618107
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Splenomegaly, Crohn's disease, Colitis, Dec... OMIM:618394
Charge Syndrome
Lymphopenia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial septal defect, A... OMIM:214800
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Anemia, Glossit... OMIM:175500
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Hepatic fibrosis, Villous atrophy, Hepatomegaly, Cirrhosis, Lymphangi... OMIM:602579
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites... OMIM:115197
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ducta... OMIM:613812
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Small hypothenar eminence, Thin metatarsal cortices, Slender long ... ORPHA:2463
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Splenomegaly, Myopathy, Polycystic ovaries, Hepatic steatosis, Cirrh... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Splenomegaly, Myopathy, Polycystic ovaries, Hepatic steatosis, Pancr... ORPHA:2348
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly,... ORPHA:158687
Opsismodysplasia
Broad thumb, Abnormal epiphysis morphology, Splenomegaly, Brachydactyly, Hypoplastic pubic bone, ... ORPHA:2746
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Hepatic steatosis, Myopathy, Cardiomegaly, Distal arthrogryposis, Hepato... ORPHA:42
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Micromelia, Polysplenia, Ascites, Hypoplastic colon, Pancreatic fibrosis, Posta... OMIM:200995
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Splenomegaly, Hepatomegaly, Steatorrhea, Jaundice OMIM:235555
Cat Eye Syndrome
Hypoplastic left heart, Anal stenosis, Total anomalous pulmonary venous return, Meckel diverticul... OMIM:115470
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia,... OMIM:606003
Beta-Thalassemia Major
Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of... ORPHA:231214
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... OMIM:601859
Diets-Jongmans Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect, Hip dysplasia, Hyposp... OMIM:618846
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Hydrocele testis OMIM:618154
Sialuria
Long hallux, Splenomegaly, 2-3 toe syndactyly, Hypoplastic nipples, Hepatomegaly, Macroglossia, H... OMIM:269921
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Facial palsy OMIM:615085
Kaposiform Lymphangiomatosis
Fractures of the long bones, Hepatosplenomegaly, Abnormal femur morphology, Splenomegaly, Lymphan... ORPHA:464329
Immunodeficiency 31C
Protein-losing enteropathy, Skeletal muscle atrophy, Lymphopenia, Villous atrophy, Autoimmune hem... OMIM:614162
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ... OMIM:615237
Congenital Bile Acid Synthesis Defect Type 3
Cholestasis, Hepatosplenomegaly, Cirrhosis, Jaundice, Fat malabsorption, Bile duct proliferation ORPHA:79302
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy OMIM:600649
Anemia, Congenital Dyserythropoietic, Type Iv
Hypospadias, Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomy... OMIM:613673
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal heart valve... ORPHA:363705
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Tetr... ORPHA:3097
Tarp Syndrome
Rocker bottom foot, Finger syndactyly, Extramedullary hematopoiesis, Clinodactyly, Tetralogy of F... ORPHA:2886
Trisomy 8P
Clinodactyly of the 2nd finger, Overlapping toe, Cryptorchidism, Dysplastic aortic valve, Annular... ORPHA:264450
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoi... OMIM:603909
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Ventricular septal defect, Hepatomegaly, Short foot, Short toe, Hamartoma o... OMIM:269860
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... OMIM:617394
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Proteus-Like Syndrome
Splenomegaly, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries ORPHA:2969
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Microcolon, Hypogonadism, Ileus, Splenomegaly, Aganglionic megacolon, Hepatomegaly, Arthrogryposi... ORPHA:163746
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level ORPHA:103907
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... OMIM:602347
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula... ORPHA:84
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Gastroesophageal reflux, Annular pancreas, Furrowed tongue, Cryptorchidism, Patent foramen ovale,... OMIM:616975
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Inflammation of the large intestine, Pancytopenia, Villous atrophy, Autoimmun... OMIM:614700
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, He... OMIM:619183
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Peptic ulcer, Pituitary adenoma, Hyperparathyroidism, ... ORPHA:913
Sandhoff Disease
Skeletal muscle atrophy, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia OMIM:268800
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Talipes equinovarus, Carpal bone hypop... OMIM:252500
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Gastroesophageal reflux ORPHA:3137
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Abnormal heart valve morphology, Genu valgum, Splenomegaly, Macroglossia, A... ORPHA:583
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Inflammation of the large intestine, Lymphocytic infiltration of the colorect... ORPHA:436159
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Dilated cardiomyopathy, Elbow flexion contracture, Increased muscle lipid content, K... OMIM:608836
Meier-Gorlin Syndrome 7
Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, Aplasia/Hypoplasia of the patell... OMIM:617063
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Increased HbA2 hemoglo... ORPHA:231222
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Cardiomegaly ORPHA:99931
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis ORPHA:163596
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap... OMIM:602557
Duodenal Atresia
Duodenal atresia OMIM:223400
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Fat malabso... ORPHA:309108
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia OMIM:618886
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly, Hip dysplasia, Facial hypotonia, High palate OMIM:618798
Timothy Syndrome
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Cutaneous syn... OMIM:601005
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Skeletal muscle atrophy, Cardiomyopathy, Cholestasis, Splenome... ORPHA:264580
Yunis-Varon Syndrome
Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Cryptorchidism, Ventricular se... ORPHA:3472
Down Syndrome
Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Protruding tongue, Acute megakar... OMIM:190685
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Splenomegaly, Mitral valve prolapse, Hypogonadotropic ... ORPHA:251066
Danon Disease
Myocardial necrosis, Skeletal muscle autophagosome accumulation, Dilated cardiomyopathy, Generali... OMIM:300257
Sézary Syndrome
Skeletal muscle atrophy, Palmoplantar keratoderma, Abnormal lymphocyte morphology, Splenomegaly, ... ORPHA:3162
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesophageal fistula, Esoph... OMIM:619227
Mpi-Cdg
Protein-losing enteropathy, Gastrointestinal hemorrhage, Hepatic fibrosis, Portal hypertension, H... ORPHA:79319
Mcleod Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Acanthocytosis, Splenomegaly, Myopathy, Rhabdomyolysis, A... OMIM:300842
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Ascites OMIM:614702
Refsum Disease, Classic
Cardiomegaly, Short fourth metatarsal, Limb muscle weakness, Cardiomyopathy OMIM:266500
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short 5th metacarpal, Spherocytosis, Splenomegaly ORPHA:66518
Kagami-Ogata Syndrome
Diastasis recti, Splenomegaly, Ventricular septal defect, Coxa valga, Limb undergrowth, Atrial se... OMIM:608149
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Skeleta... OMIM:615895
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Neoplasm... ORPHA:100026
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... OMIM:266200
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Glycogen Storage Disease Ii
Firm muscles, Limb muscle weakness, Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Incre... OMIM:232300
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Steatorrhea, Duodenal ulcer, Brachydactyly, Short palm ORPHA:3217
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte... OMIM:150550
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Mucopolysaccharidosis, Type Ii
Intestinal pseudo-obstruction, Abnormal heart valve morphology, Hepatosplenomegaly, Splenomegaly,... OMIM:309900
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Tarp Syndrome
Rocker bottom foot, Meckel diverticulum, Clinodactyly, Tetralogy of Fallot, Single transverse pal... OMIM:311900
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestinal lymphangiectasi... ORPHA:90362
Macrocephaly/Autism Syndrome
Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, High palate, Hydrocele testis OMIM:605309
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Musculocontractural Ehlers-Danlos Syndrome
Slender finger, Malrotation of small bowel, Decreased muscle mass, Abnormal heart morphology, Abn... ORPHA:2953
Trigonocephaly 1
High, narrow palate, Long penis, Meckel diverticulum OMIM:190440
Gaucher Disease, Perinatal Lethal
Arthrogryposis multiplex congenita, Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepa... OMIM:608013
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Abnormality of ... ORPHA:398124
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia, Facial palsy OMIM:611490
Omenn Syndrome
Short toe, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia... ORPHA:39041
Sarcoidosis, Susceptibility To, 2
Splenomegaly, Hepatomegaly, Facial palsy, Mediastinal lymphadenopathy, Clubbing OMIM:612387
Cantú Syndrome
Short distal phalanx of finger, Finger syndactyly, Hypertrophic cardiomyopathy, Abnormal heart va... ORPHA:1517
Gaucher Disease, Type I
Aortic valve stenosis, Erlenmeyer flask deformity of the femurs, Pancytopenia, Hypersplenism, Spl... OMIM:230800
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Abnormality of the epiphysis of the femoral head, Cholestasis, Abnorma... OMIM:618641
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Ankle flexion contracture, Microphallus, Camptodactyly of finger, Cryptorchidism, Knee flexion co... ORPHA:468631
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... ORPHA:329971
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Mediastinal lymphadenopathy, Le... ORPHA:809
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Parotitis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increas... OMIM:620376
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Viral hepatitis, Ascites, Splen... ORPHA:2137
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Syndromic Diarrhea
Hepatic fibrosis, Abnormal heart morphology, Lymphopenia, Tetralogy of Fallot, Villous atrophy, A... ORPHA:84064
Congenital Tracheal Stenosis
Hypoplastic left heart, Fetal ascites, Meckel diverticulum, Duodenal stenosis, Abnormal stomach m... ORPHA:141127
Congenital Tufting Enteropathy
Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal... ORPHA:92050
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Abn... ORPHA:565612
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Bilateral cryptorchidism, Lymphopenia, Abdominal adhesions, Neutropenia, Pyl... OMIM:616395
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Gastrointestinal dysmotility, Cardiomegaly, Dysphagia ORPHA:391428
Glycogen Storage Disease Xii
Normocytic anemia, Increased variability in muscle fiber diameter, Cholelithiasis, Splenomegaly, ... OMIM:611881
Simpson-Golabi-Behmel Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Supernumerary nipple, Cryptorchidism, Congenital ... ORPHA:373
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Mosaic Trisomy 16
Short forearm, Meckel diverticulum, Clinodactyly, Anteriorly placed anus, Short femoral neck, Abn... ORPHA:1708
Proteasome-Associated Autoinflammatory Syndrome 1
Hypoplastic scapulae, Finger swelling, Skeletal muscle atrophy, Parotitis, Microcytic anemia, Cam... OMIM:256040
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatic fibrosis, Skeletal muscle atrophy, Splenomegaly, Rhabdomyolysis, Polycystic ovaries, Hepa... ORPHA:79240
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect,... OMIM:135900
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Erlenmeyer flask deformity of the femurs, Ascites, Hepatosple... ORPHA:77259
Camurati-Engelmann Disease
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Skeletal muscle atrophy... ORPHA:1328
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Hepatic steatosis, Rhab... OMIM:614921
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... OMIM:603554
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Fucosidosis
Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Macroglossia, Flexion contractu... OMIM:230000
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Perimembranous ventricular septal... OMIM:611376
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Glandular hypospadias, Cardiomegaly, Talipes equinovarus, Limb hypertonia, Short femur OMIM:620306
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly OMIM:617713
Chronic Granulomatous Disease
Liver abscess, Splenomegaly, Tracheoesophageal fistula, Hepatomegaly, Abnormality of neutrophils,... ORPHA:379
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Congenital d... OMIM:312870
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Villous atrophy, Decreased pro... OMIM:619381
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Colonic diverticula, Gastroesophageal reflux, Increased hepatic echogenicity, Gastric ulcer, Esop... OMIM:147060
Whim Syndrome
Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Tetralogy of Fallot, Abnor... ORPHA:51636
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Hepatitis, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Paralytic ileus... OMIM:620565
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Leukocytosis, Splenomegaly, Intestinal obstruction, Orchitis, Myositis, Peritonitis, Abnormal sac... ORPHA:32960
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy ORPHA:85414
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Clinodactyly, Cryptorchidism, Bowing of the long bones, Foot polydact... OMIM:249000
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Diastasis recti, Crypto... OMIM:130650
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... OMIM:194380
Autosomal Recessive Polycystic Kidney Disease
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun... ORPHA:731
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ... ORPHA:96191
Proteasome-Associated Autoinflammatory Syndrome 3
Finger swelling, Lymphopenia, Splenomegaly, Myositis, Hepatomegaly, Lymphadenopathy, Thrombocytop... OMIM:617591
Glycogen Storage Disease Ixc
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation OMIM:613027
Isolated Biliary Atresia
Periportal fibrosis, Hypopituitarism, Atretic gallbladder, Cholestasis, Splenomegaly, Prolonged n... ORPHA:30391
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Adenomatous colonic polyposis, Uterine ... OMIM:617100
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Villous atrophy, Portal hypertension, Splenomegaly, Hepatic ste... ORPHA:567983
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Gastroesophageal reflux, Synostosis of the proximal phalanx of the thumb wit... OMIM:300967
Cirrhotic Cardiomyopathy
Ascites, Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Cirrhosis, Jaundice... ORPHA:57777
Double Outlet Left Ventricle
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... ORPHA:3427
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Smith-Lemli-Opitz Syndrome
Small scrotum, Postaxial foot polydactyly, Overlapping toe, Cryptorchidism, Hepatic steatosis, Ve... OMIM:270400
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hemateme... OMIM:263200
Visceral Myopathy 1
Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal... OMIM:155310
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Pachydermoperiostosis
Peptic ulcer, Gastrointestinal hemorrhage, Small hand, Palmoplantar keratoderma, Clubbing of toes... ORPHA:2796
Abetalipoproteinemia
Hepatic fibrosis, Acanthocytosis, Reticulocytosis, Myopathy, Hepatic steatosis, Cardiomegaly, Hep... ORPHA:14
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Gastric ulcer, Iron deficiency anemia, Esophageal ulceration OMIM:618372
Chops Syndrome
High, narrow palate, Gastroesophageal reflux, Splenomegaly, Cryptorchidism, Ventricular septal de... OMIM:616368
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of ... ORPHA:220460
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Fucosidosis
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly, Decreased muscle mass ORPHA:349
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Mednik Syndrome
Hepatic fibrosis, Microcolon, Volvulus, Cholestasis, Jejunal atresia, Cirrhosis OMIM:609313
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Peptic ulcer, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chr... ORPHA:98849
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Anemia, Hepatomegaly, Splenomegaly OMIM:620296
Fraser Syndrome 1
Clitoral hypertrophy, Abnormal heart morphology, Cutaneous finger syndactyly, Abnormal small inte... OMIM:219000
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Avascular necrosis of the capital femoral epiphysis, Genu valgum, Adenoidi... ORPHA:581
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidism, Patent foramen ovale, Cardiomegaly, ... OMIM:620371
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocyt... OMIM:618278
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Congenital contracture, Cardiomegaly, Abnormal cardiac septum m... ORPHA:97297
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Primary Sclerosing Cholangitis
Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Hepatomegaly, Jaun... ORPHA:171
Juvenile Polyposis Syndrome
Clubbing of fingers, Stomach cancer, Juvenile gastrointestinal polyposis, Small intestinal polypo... ORPHA:2929
Menke-Hennekam Syndrome 2
Cutaneous syndactyly of toes, Overlapping toe, Duodenal ulcer, Sandal gap OMIM:618333
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Bilateral... OMIM:301068
Beckwith-Wiedemann Syndrome
Visceromegaly, Polycythemia, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Exocrine ... ORPHA:116
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Truncus Arteriosus
Aplasia/hypoplasia involving bones of the extremities, Abnormal heart morphology, Tetralogy of Fa... ORPHA:3384
Dyskeratosis Congenita
Bone marrow hypocellularity, Abnormality of neutrophils, Oral leukoplakia, Palmoplantar keratoder... ORPHA:1775
Trichohepatoenteric Syndrome 1
Bifid uvula, Hepatic fibrosis, Tetralogy of Fallot, Cholestasis, Avascular necrosis of the capita... OMIM:222470
Idiopathic Hypereosinophilic Syndrome
Swelling of proximal interphalangeal joints, Hepatosplenomegaly, Chronic hepatitis, Myocardial eo... ORPHA:3260
Ogden Syndrome
Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Torticoll... OMIM:300855
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Skeletal muscle atrophy, Splenomegaly, Macrocytic anemia, Myop... OMIM:615512
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Gastroesophageal reflux, Median cleft palate, Submucous cleft hard palate... OMIM:301043
Genitopatellar Syndrome
Small scrotum, Clitoral hypertrophy, Enlarged labia minora, Cryptorchidism, Hip contracture, Vent... OMIM:606170
Multiple Endocrine Neoplasia Type 1
Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null cell adenoma... ORPHA:652
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia OMIM:277175
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Prolonged neona... OMIM:185000
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233710
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia, Ascites, Cryptorchidism, Pericardial effusion OMIM:618183
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy... ORPHA:457077
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple... OMIM:619418
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Hepatomegaly, Calcinosis, Anemia, Metaphyseal irregularity, Primary hyperparathyroi... OMIM:239200
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Cone-shaped epiphysis, Hydrometrocolpos, Atrioventricular canal defect, Splenomegaly, Aplasia of ... OMIM:617088
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Facial hypotonia, Cardiomegaly, Left ventricular hypertrophy, Hepato... ORPHA:308552
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Limb muscle weakness, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Diastasis recti, Cryptorchidism, Mitral valve prolapse, Hiatus hernia, Tr... OMIM:601776
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233690
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Ascites, Myopathy, Cardio... OMIM:261740
Wolf-Hirschhorn Syndrome