Gene Summary

Name:
F-box and WD-40 domain protein 16
Synonyms:
7420402K12Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
enlarged thymus Fbxw16em1(IMPC)Ccpcz HET Early adult 0.00
small thymus Fbxw16em1(IMPC)Ccpcz HET Early adult 0.00
enlarged spleen Fbxw16em1(IMPC)Ccpcz HET Early adult 0.00
abnormal spleen morphology Fbxw16em1(IMPC)Ccpcz HET Early adult 0.00
abnormal uterus morphology Fbxw16em1(IMPC)Ccpcz HET Early adult 0.00
embryonic lethality prior to organogenesis Fbxw16em1(IMPC)Ccpcz HOM   E9.5 0.00
increased CD8-positive, naive alpha-beta T cell number Fbxw16em1(IMPC)Ccpcz HET Early adult 3.96×10-05
abnormal tooth morphology Fbxw16em1(IMPC)Ccpcz HET Early adult 0.00
abnormal thymus morphology Fbxw16em1(IMPC)Ccpcz HET Early adult 0.00
preweaning lethality, complete penetrance Fbxw16em1(IMPC)Ccpcz HOM   Early adult 0.00
abnormal digit morphology Fbxw16em1(IMPC)Ccpcz HET Early adult 4.71×10-05

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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 Forepaw

15 Images

X-ray

XRay Images Hind Leg and Hip

30 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

Human diseases caused by Fbxw16 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 Fbxw16 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Craniofacial hyperostosis, Bowing of the long bones, Splenomegal... ORPHA:1802
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Anonychia-Microcephaly Syndrome
Carious teeth, Clinodactyly of the 5th finger, Abnormality of the dentition, Bilateral single tra... ORPHA:1094
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
T lymphocytopenia, Oral ulcer, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:608971
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia OMIM:200900
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Oral ulcer, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormality of the metaphysis, Splenomegaly ORPHA:417
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Carious teeth, Metaphyseal chondrodysplasia, Abnormality of epiphysis morphology, ... ORPHA:2501
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Hepatomegaly, Hypogonadism, Anemia, Splenomegaly, Decreased mean corpus... OMIM:615234
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:618495
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Thin vermilion border, Narrow mouth, Sandal gap, Splenomegaly, Ascites, Anemia, Hypoplasia of pen... ORPHA:1046
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Spondylometaphyseal Dysplasia, Axial
Proximal femoral metaphyseal irregularity, Rhizomelia, Coxa vara, Narrow greater sciatic notch, S... OMIM:602271
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Synda... OMIM:615631
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Carious teeth, Abnormality of dental morphology, Abnormality of epiphysis morphology... ORPHA:2785
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Congenital Disorder Of Glycosylation, Type Ik
Thin vermilion border, Hepatomegaly, Splenomegaly, Hypogonadism, Micrognathia OMIM:608540
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Oligodontia, Metaphyseal irregularity, Narrow iliac wing, Joint contracture of the 5... OMIM:601668
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Follicula... OMIM:614470
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Clubbing of fingers, Increased proportion autoreactive unresponsive CD21-... OMIM:618534
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Anemia, Splenomegaly, Premature ovarian insufficiency, Lymphadenopathy ORPHA:100025
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Dentinogenesis Imperfecta
Finger joint hypermobility, Generalized hypoplasia of dental enamel, Abnormal dentin morphology, ... ORPHA:49042
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Recurrent sinus... OMIM:300853
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate production, Anemia, Sp... OMIM:613673
Dysplastic Cortical Hyperostosis
Hepatomegaly, Abnormality of limb bone morphology, Limb undergrowth, Splenomegaly ORPHA:2204
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Gingivitis, Hyperparathyroidism, Premature loss of teeth OMIM:618107
Burkitt Lymphoma
Abnormality of the ovary, Neoplasm of the oral cavity, Decreased proportion of CD4-positive helpe... ORPHA:543
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly OMIM:300972
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Coxa valga, Thrombocytopenia, Cl... ORPHA:3320
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Oligodontia, Abnormal dental enamel morphology, Cholestasis, Hepatomegaly, Jaundice, Hypodontia, ... ORPHA:59303
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Bone-marrow foam cells, Hepatomegaly, Splenomegaly OMIM:607616
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism OMIM:613313
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Delayed eruption of primary teeth, Cariou... OMIM:265800
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Pyle Disease
Delayed eruption of teeth, Carious teeth, Limited elbow extension, Genu valgum, Mandibular progna... OMIM:265900
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Talipes equinovarus, Hepatomegaly, Splenomegaly OMIM:616719
Isolated Anencephaly
Thymus hyperplasia, Cleft lip ORPHA:563609
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79303
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Spondyloepimetaphyseal Dysplasia, Shohat Type
Thin vermilion border, Delayed epiphyseal ossification, Metaphyseal irregularity, Limb undergrowt... OMIM:602557
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Anemia, Splenomegaly, Hypersplenis... ORPHA:846
Congenital Bile Acid Synthesis Defect Type 3
Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice, Congenital... ORPHA:79302
Roifman Syndrome
Long philtrum, Short toe, Downturned corners of mouth, Short metacarpal, Lymphadenopathy, Hepatom... OMIM:616651
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Recurrent sinusitis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly... OMIM:613101
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Splenomegaly ORPHA:79238
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Alpha-Mannosidosis
Open bite, Hip dysplasia, Macroglossia, Narrow palate, Craniofacial hyperostosis, Hypoplastic inf... ORPHA:61
Immunodeficiency 32B
Sinusitis, Splenomegaly OMIM:226990
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Complete duplication of ... OMIM:129540
Galactosemia Iii
Hepatomegaly, Jaundice, Splenomegaly OMIM:230350
Rubinstein-Taybi Syndrome 2
Carious teeth, Narrow palate, Broad thumb, Broad hallux, Syndactyly, Retrognathia, Increased over... OMIM:613684
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:86893
Splenoportal Vascular Anomalies
Cirrhosis, Hepatic fibrosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Mandibular prognathia... ORPHA:1133
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Oslam Syndrome
Carious teeth, Radioulnar synostosis, Abnormality of neutrophils, Increased mean corpuscular volu... ORPHA:2760
Amed Syndrome, Digenic
Hypoplasia of the uterus, Thrombocytopenia, Acute myeloid leukemia, Long thumb, Anemia, Leukopeni... OMIM:619151
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Hyperg... OMIM:609441
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal morphology of female internal genitalia, Finger syndactyly, Upper limb asymmetry, Aplasi... ORPHA:2141
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Histiocytosis, Anemia, Splenomegaly, Enlarged mesenteric lymph node... OMIM:209950
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Pfapa Syndrome
Hepatomegaly, Abnormal oral cavity morphology, Lymphadenopathy, Splenomegaly ORPHA:42642
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Erythroid hypoplasia, Monocytosis, Broad thumb, Lymphopenia, Neutropenia, Hypopla... OMIM:612541
Macrocephaly/Autism Syndrome
Hepatomegaly, Long philtrum, Lymphopenia, Splenomegaly OMIM:605309
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short 5th metacarpal, Spherocytosis, Splenomegaly ORPHA:66518
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positiv... OMIM:611926
Zimmermann-Laband Syndrome
Deep palmar crease, Macroglossia, Gingival fibromatosis, Wide mouth, Hypodontia, Hepatomegaly, Cl... ORPHA:3473
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Metaphyseal irregularity, Hepatomegaly, Ascites, Cardiomegaly, Splenomega... OMIM:269920
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:79301
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, Eosinophilia,... OMIM:603554
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent sinusitis, Neutropenia in presen... OMIM:607594
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Carious teeth, Hypospadias, Single transverse palmar crease, Short palm OMIM:101805
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Distal Trisomy 18Q
Cryptorchidism, Carious teeth, Camptodactyly of finger, Abnormality of dental morphology, Large h... ORPHA:1716
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Eem Syndrome
Carious teeth, Abnormality of dental morphology, Finger syndactyly, Ectrodactyly, Selective tooth... ORPHA:1897
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Carious teeth, Extramedullary hematopoiesis, Mandibular prognathia, Persistence of p... OMIM:259710
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... OMIM:619220
Lymphoproliferative Syndrome 2
Hemophagocytosis, Oral ulcer, Pancytopenia, Hepatomegaly, Aplastic anemia, Ascites, Splenomegaly,... OMIM:615122
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Abnormality of femur morphology, Abnormality... ORPHA:3130
Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:98293
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Anemia, Phocomelia, Micrognathia, E... OMIM:274000
Isolated Splenogonadal Fusion
Hydrocele testis, Abnormality of the scrotum, Abnormal penis morphology, Polysplenia, Bilateral c... ORPHA:457083
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... OMIM:300510
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Cirrhosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Anemia, Sple... OMIM:616860
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Recurrent aphthous stomatitis, Lymphadenopathy, Splenomegaly OMIM:611762
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Carious teeth, Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly, Anemia, A... OMIM:612714
Pycnodysostosis
Delayed eruption of teeth, Short toe, Narrow palate, Abnormality of dental morphology, Abnormalit... ORPHA:763
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Hemochromatosis, Type 2A
Cirrhosis, Azoospermia, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism OMIM:602390
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Oligodontia, Short proximal phalanx of finger, Short toe, Short finger, Supernumerary tooth, Shor... OMIM:191482
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Abnor... ORPHA:507
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Hepatomegaly, Jaundice, Splenomegaly OMIM:214900
46,Xy Sex Reversal 3
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Exaggerated rugosity of the ... OMIM:612965
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Hepatomegaly, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Lichtenstein Syndrome
Enamel hypoplasia, Carious teeth, Downturned corners of mouth, Neutropenia, Metacarpophalangeal j... OMIM:246550
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Abnor... OMIM:273250
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Tibial bowing, Lower limb undergrowth, Splenomegaly, Abn... ORPHA:3035
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Clinodactyly of the 5th toe, Leukopen... ORPHA:108
Coproporphyria, Hereditary
Hepatomegaly, Jaundice, Splenomegaly OMIM:121300
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Increased circulating gonadotropin level, Male hyp... ORPHA:755
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Postaxial hand polydactyly, Cholestasis, Hepatic fibrosis, Hepatomegaly, Oral cleft,... OMIM:615630
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Lcat Deficiency
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:650
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy ORPHA:37748
Proteus-Like Syndrome
Open bite, Mandibular prognathia, Polycystic ovaries, Abnormality of the parathyroid gland, Splen... ORPHA:2969
Lymphoproliferative Syndrome, X-Linked, 2
Hemophagocytosis, Pancytopenia, Hepatomegaly, Hepatitis, Aplastic anemia, Splenomegaly OMIM:300635
Gaucher Disease, Type Ii
Trismus, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:230900
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly OMIM:610333
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Classic Mycosis Fungoides
Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Splenomegaly ORPHA:2584
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Decreased testicular size, Hypogonadism, Hypogeusia OMIM:201100
Cryohydrocytosis
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Opsismodysplasia
Squared iliac bones, Broad thumb, Abnormality of epiphysis morphology, Hypoplastic pubic bone, He... ORPHA:2746
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy ORPHA:158029
Poikiloderma With Neutropenia
Recurrent sinusitis, Malar flattening, Neutropenia, Splenomegaly OMIM:604173
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver disease, Splenomegaly, He... OMIM:616828
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Hemolytic anemia, Lymphadenitis, Oral ulcer, Lymphopenia, Impaired oxidati... OMIM:618935
Otodental Syndrome
Long philtrum, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Delayed erup... ORPHA:2791
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Enamel hypoplasia, Carious teeth, Urethral stricture, Anemia, Palmoplantar hyperkeratosis OMIM:226670
Nephronophthisis 19
Cholestasis, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Bile duct proliferation OMIM:616217
Bile Acid Synthesis Defect, Congenital, 5
Iron deficiency anemia, Portal hypertension, Hepatic fibrosis, Jaundice, Hepatomegaly, Splenomega... OMIM:616278
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Sialuria
Long philtrum, 2-3 toe syndactyly, Smooth philtrum, Hypoplastic nipples, Hepatomegaly, Thin upper... OMIM:269921
Albers-Schönberg Osteopetrosis
Genu valgum, Carious teeth, Abnormality of epiphysis morphology, Abnormality of the dentition, Ab... ORPHA:53
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Thin vermilion border, Short philtrum, Deep philtrum, Wide mou... OMIM:606003
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cryptorchidism, Cubitus valgus, Epiphyseal stippling, Talipes equinovarus, Micrognathia, Camptoda... OMIM:614866
Immunodeficiency, Common Variable, 2
Recurrent sinusitis, Follicular hyperplasia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:240500
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Postaxial hand polydactyl... ORPHA:1655
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Short metatarsal, Short phalanx of finger, Postaxial polydactyly, Limb undergrowth... OMIM:617102
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Immunodeficiency 54
Adrenocorticotropic hormone excess, Reduced natural killer cell count, Hepatomegaly, Splenomegaly... OMIM:609981
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Proteus Syndrome
Open mouth, Mandibular hyperostosis, Splenomegaly, Lymphangioma, Facial hyperostosis OMIM:176920
Congenital Disorder Of Glycosylation, Type Ie
Upper limb undergrowth, Camptodactyly, Smooth philtrum, Hepatomegaly, Small hand, Splenomegaly, H... OMIM:608799
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Cli... OMIM:612964
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly, Splenomegaly OMIM:612526
Cholesteryl Ester Storage Disease
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly ORPHA:75234
Recessive Dystrophic Epidermolysis Bullosa Inversa
Carious teeth, Mitten deformity, Palmoplantar blistering, Vaginal stricture, Oral mucosal blister... ORPHA:79409
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Pulp calcification, Short phalanx of fing... OMIM:606895
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly, Histiocytosis, Pancreatic hypoplasia, Cardiomegaly, Retroperitoneal fibrosis, Elbo... OMIM:602782
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Abnorma... ORPHA:100026
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Sclerosing Cholangitis, Neonatal
Cirrhosis, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis, Hepatomegaly, Jaundice, Spleno... OMIM:617394
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased t... OMIM:614837
Phocomelia, Schinzel Type
Radial bowing, Cryptorchidism, Hypoplasia of the radius, Abnormality of tibia morphology, Fibular... ORPHA:2879
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly OMIM:607271
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Jaundice, Splenomegaly OMIM:211600
Fish-Eye Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:79292
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Jaundice, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79477
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Talipes equinovarus, Micrognathia, Arachnodactyly OMIM:619036
Cholestasis-Lymphedema Syndrome
Cirrhosis, Neonatal cholestatic liver disease, Biliary tract abnormality, Hepatomegaly, Jaundice,... ORPHA:1414
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Pancreatic lymphangiectasis, Postaxial hand polydactyly, Smooth philtrum, Malar f... OMIM:235255
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly OMIM:618892
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil co... ORPHA:3226
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Femur fracture, Pancytopenia, Thrombocytopenia, Hepatomegaly, Coxa vara, Flared me... OMIM:259700
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial hand polydactyly, Hypodontia, Hepatomegaly, Short long bone, Vaginal atresia, Supernume... OMIM:617088
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Carious teeth, Finger syndactyly, Microretrognathia, Abnormal palate morphology, ... ORPHA:1786
Omenn Syndrome
Short toe, Leukocytosis, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Anemia, S... ORPHA:39041
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Cholecystitis, Impaired neutrophil bactericidal activity, Cholel... OMIM:613470
Mevalonic Aciduria
Splenomegaly ORPHA:29
46,Xx Ovotesticular Disorder Of Sex Development
Cryptorchidism, Ambiguous genitalia, Abnormality of the uterus, Abnormal morphology of female int... ORPHA:2138
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, Portal fibrosis, Bile ... OMIM:602347
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Hepatic bridging fibrosis, Abnormality of the epiphysis of the femoral head, C... OMIM:618641
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, High palate, Abnormality of the spleen ORPHA:85212
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Splenomegaly ORPHA:56425
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615846
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hemolytic anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hypocalc... ORPHA:169090
Dominant Beta-Thalassemia
Hyperplasia of the maxilla, Decreased mean corpuscular hemoglobin concentration, Persistence of h... ORPHA:231226
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Vacuolated lymphocytes, Increased hepatic echogenicity, Hepati... OMIM:278000
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Oral ulcer, Sclerosing cholangitis, Neutropenia, Enlarged tonsils, S... OMIM:308230
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphology, Gonadobl... ORPHA:168563
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Hypoplasia of teeth, Tongue nodules, Broad first metatarsal, Natal tooth, H... ORPHA:2751
Primary Myelofibrosis
Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombo... ORPHA:824
Neuraminidase Deficiency
Bone-marrow foam cells, Epiphyseal stippling, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly,... OMIM:256550
Diethylstilbestrol Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... ORPHA:1916
Crisponi/Cold-Induced Sweating Syndrome 1
Long philtrum, Carious teeth, Limited elbow extension, Talipes equinovarus, Narrow mouth, Camptod... OMIM:272430
Cleidocranial Dysplasia
Open bite, Carious teeth, Abnormal dental enamel morphology, Mandibular prognathia, Abnormality o... ORPHA:1452
Osteopetrosis, Autosomal Recessive 5
Micrognathia, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Flared ... OMIM:259720
Immunodeficiency 36
Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,... ORPHA:99429
Congenital Rubella Syndrome
Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Abnormality of the metaphysis ORPHA:290
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Thin vermilion border, Abnormal dental enamel morphology, Delayed eruption of teet... OMIM:257850
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Beta-Thalassemia Major
Hyperplasia of the maxilla, Decreased mean corpuscular hemoglobin concentration, Persistence of h... ORPHA:231214
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Lymphad... ORPHA:911
Qazi-Markouizos Syndrome
Cryptorchidism, Hypoplasia of teeth, Open mouth, Broad philtrum, Drooling, Delayed ossification o... ORPHA:3010
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Pancreatitis ORPHA:79312
Hermansky-Pudlak Syndrome 2
Long philtrum, Carious teeth, Periodontitis, Neutropenia, Smooth philtrum, Thrombocytopenia, Redu... OMIM:608233
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Aplasia of the uterus, Micrognathia, Anteriorly displaced urethral meatus OMIM:266810
Wolman Disease
Bone-marrow foam cells, Hepatomegaly, Ascites, Anemia, Splenomegaly ORPHA:75233
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Jaundice, Splenomegaly OMIM:266200
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Griscelli Syndrome
Abnormality of neutrophils, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatitis, Ascites, Leukope... ORPHA:381
Hemochromatosis, Type 1
Cirrhosis, Azoospermia, Hepatocellular carcinoma, Hepatomegaly, Testicular atrophy, Cardiomegaly,... OMIM:235200
Müllerian Aplasia And Hyperandrogenism
Cubitus valgus, Short philtrum, Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia ... ORPHA:247768
Popliteal Pterygium Syndrome
Cryptorchidism, Talipes equinovarus, Bifid scrotum, Scrotal hypoplasia, Hypoplasia of the uterus,... OMIM:119500
Beta-Thalassemia Intermedia
Cirrhosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellula... ORPHA:231222
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental color, Abnorm... ORPHA:1028
Mucopolysaccharidosis Type 6
Genu valgum, Macroglossia, Splenomegaly, Sinusitis, Abnormality of the metaphysis, Thick lower li... ORPHA:583
Cronkhite-Canada Syndrome
Hepatomegaly, Furrowed tongue, Tapered finger, Anemia, Splenomegaly, Hypogeusia ORPHA:2930
Prolidase Deficiency
Genu valgum, Carious teeth, Palmoplantar keratoderma, Bilateral single transverse palmar creases,... ORPHA:742
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Autosomal Recessive Kenny-Caffey Syndrome
Carious teeth, Cortical thickening of long bone diaphyses, Stenosis of the medullary cavity of th... ORPHA:93324
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Finger swelling, Thrombocytopenia, Hepatomegaly, Sinusitis, Anemia, Splenomegaly, Ly... OMIM:617591
Androgen Insensitivity Syndrome
Cryptorchidism, Abnormal morphology of female internal genitalia, Abnormality of the uterus, Ambi... ORPHA:754
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Blind vagina, Aplasia of the... ORPHA:90797
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatocellular carcinoma, Hepatomegaly, Intermittent jaundic... OMIM:601847
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Hepatitis, Splenomegaly, Acholic stools OMIM:613812
Sézary Syndrome
Palmoplantar keratoderma, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly, Lymphadenop... ORPHA:3162
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Kenny-Caffey Syndrome, Type 1
Carious teeth, Slender long bone, Small hand, Congenital hypoparathyroidism, Anemia, Short foot, ... OMIM:244460
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Overlapping toe, Camptodactyly, Smooth philtrum, Abnormality of the dentition, Thi... ORPHA:363444
Craniometadiaphyseal Dysplasia
Genu valgum, Carious teeth, Cubitus valgus, Dental crowding, Mandibular prognathia, Natal tooth, ... OMIM:269300
Kagami-Ogata Syndrome
Long philtrum, Limb undergrowth, Long fingers, Hepatomegaly, Splenomegaly, Retrognathia, Microgna... OMIM:608149
Limb-Mammary Syndrome
Oligodactyly, Absent nipple, Bilateral breast hypoplasia, Aplasia of the ovary, Toe syndactyly, S... ORPHA:69085
Glycogen Storage Disease Ixc
Cirrhosis, Bile duct proliferation, Hepatomegaly, Splenomegaly OMIM:613027
Glycogen Storage Disease Xii
Nonspherocytic hemolytic anemia, Cholecystitis, Cholelithiasis, Normocytic anemia, Jaundice, Norm... OMIM:611881
Sialidosis Type 2
Hepatomegaly, Ascites, Splenomegaly ORPHA:87876
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Kaposiform Lymphangiomatosis
Abnormal humerus morphology, Abnormality of femur morphology, Enlarged kidney, Abnormality of the... ORPHA:464329
Cinca Syndrome
Abnormality of neutrophils, Leukocytosis, Abnormal granulocyte morphology, Hepatomegaly, Anemia, ... ORPHA:1451
Perrault Syndrome 4
Cubitus valgus, Increased circulating gonadotropin level, Hypoplasia of the uterus, Bicornuate ut... OMIM:615300
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Sandal gap, Macrodactyly, Splenomegaly OMIM:612918
Camurati-Engelmann Disease
Delayed eruption of teeth, Carious teeth, Abnormality of tibia morphology, Genu valgum, Abnormali... ORPHA:1328
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Splenomegaly, Advanced eruptio... ORPHA:2348
Kennerknecht Syndrome
Toe syndactyly, Hypoplasia of the uterus, Hypodontia, Acetabular dysplasia, Toe clinodactyly, Hig... OMIM:600908
Distal Trisomy 5Q
Cryptorchidism, Thin vermilion border, Carious teeth, Long philtrum, Narrow mouth, Hypoplasia of ... ORPHA:96097
Immunodeficiency 60
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly OMIM:616050
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Tongue nodules, Polydactyly, Lobulated tongue, Alveolar ridge o... OMIM:311200
Mucopolysaccharidosis, Type Vii
Genu valgum, Abnormality of the dentition, Hepatomegaly, Metatarsus adductus, Acetabular dysplasi... OMIM:253220
Hydatidiform Mole
Enlarged uterus, Anemia ORPHA:99927
Gaucher Disease, Type I
Erlenmeyer flask deformity of the femurs, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomeg... OMIM:230800
Pseudo-Torch Syndrome 1
Long philtrum, Microretrognathia, Thrombocytopenia, Jaundice, Hepatomegaly, Splenomegaly, High pa... OMIM:251290
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Mucopolysaccharidosis, Type Vi
Hip dysplasia, Genu valgum, Macroglossia, Metaphyseal widening, Metaphyseal irregularity, Flared ... OMIM:253200
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Cryptorchidism, Aplastic pubic bones, Narrow palate, Split hand, Scrotal hypoplasia, Phocomelia, ... OMIM:276820
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Hip dysplasia, Cirrhosis, Postaxial polydactyly, Cholestasis, Pancytopenia, Th... OMIM:614576
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Increased mean platelet volume, Splenomegaly, Gingival bleeding OMIM:153670
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Jaundice, Hemolytic anemia, Splenomegaly OMIM:608885
Scheie Syndrome
Everted lower lip vermilion, Wide mouth, Thick vermilion border, Hepatomegaly, Splenomegaly ORPHA:93474
Zimmermann-Laband Syndrome 1
Delayed eruption of teeth, Gingival fibromatosis, Long penis, Mandibular prognathia, Short distal... OMIM:135500
Hurler-Scheie Syndrome
Hepatomegaly, Micrognathia, Thick vermilion border, Splenomegaly OMIM:607015
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Limited elbow extension, Short philtrum, Camptodactyly, Pancytopenia, Hepatomegaly, Hepatitis, Cl... OMIM:613385
Ellis Van Creveld Syndrome
Cryptorchidism, Thin vermilion border, Short distal phalanx of finger, Epispadias, Acute leukemia... ORPHA:289
Acrocallosal Syndrome
Cryptorchidism, Thin vermilion border, Hypoplasia of teeth, Open mouth, Rectovaginal fistula, Tri... OMIM:200990
Wilson Disease
Acute hepatitis, Cirrhosis, Hepatic steatosis, Thrombocytopenia, Jaundice, Hepatomegaly, Hepatiti... ORPHA:905
Eec Syndrome
Urethral atresia, Carious teeth, Abnormal dental enamel morphology, Toe syndactyly, Taurodontia, ... ORPHA:1896
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Elevated ... OMIM:612310
Adams-Oliver Syndrome 5
Syndactyly, Right ventricular hypertrophy, Hypersplenism, Splenomegaly, Brachydactyly OMIM:616028
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification OMIM:125420
Familial Tumoral Calcinosis
Abnormal palate morphology, Abnormality of the dentition, Hepatomegaly, Splenomegaly, Abnormality... ORPHA:53715
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatomegaly, Splenomegaly... OMIM:616100
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplasia of the ovary... OMIM:619203
Muckle-Wells Syndrome
Camptodactyly of finger, Abnormal palate morphology, Hepatomegaly, Anemia, Splenomegaly, Recurren... ORPHA:575
Felty Syndrome
Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Hepatomegaly, Sinusitis, Anemia, S... ORPHA:47612
8P11.2 Deletion Syndrome
Cryptorchidism, Talipes equinovarus, Hemolytic anemia, Azoospermia, Micrognathia, Splenomegaly, H... ORPHA:251066
Meckel Syndrome, Type 1
Cryptorchidism, Natal tooth, Lobulated tongue, Bile duct proliferation, Micrognathia, Postaxial h... OMIM:249000
Adult-Onset Still Disease
Leukocytosis, Generalized lymphadenopathy, Hepatomegaly, Hepatitis, Splenomegaly, Neutrophilia, B... ORPHA:829
Dk1-Cdg
Hepatomegaly, Adactyly, Congenital hepatic fibrosis, Splenomegaly ORPHA:91131
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:85414
Satoyoshi Syndrome
Genu valgum, Short metatarsal, Hypoplasia of the uterus, Short metacarpal, Brachydactyly, Osteoly... OMIM:600705
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Splenomegaly OMIM:235555
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Clubbing, Hepatomegaly, Splenomegaly OMIM:612387
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Cirrhosis, Splenomegaly OMIM:613489
Oculoskeletodental Syndrome
Cryptorchidism, Oligodontia, Macroglossia, Hepatomegaly, Splenomegaly, Short femoral neck, Elbow ... OMIM:618440
Perrault Syndrome 6
Premature ovarian insufficiency, Hypoplasia of the uterus, Streak ovary OMIM:617565
Chronic Granulomatous Disease
Abnormality of neutrophils, Hepatomegaly, Sinusitis, Splenomegaly, Mediastinal lymphadenopathy, G... ORPHA:379
Hennekam Syndrome
Delayed eruption of teeth, Short philtrum, Camptodactyly of finger, Narrow mouth, Abnormality of ... ORPHA:2136
Short-Rib Thoracic Dysplasia 12
Natal tooth, Hamartoma of tongue, Bowing of the legs, Lobulated tongue, Median cleft lip, Peripor... OMIM:269860
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:619183
Testicular Agenesis
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... ORPHA:325124
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Upper limb undergrowth, Abnormality of upper lip, Mandibular progna... OMIM:614527
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Periodontit... OMIM:214500
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, C... ORPHA:432
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Narrow mouth, Open mouth, Short phalanx of finger, Decreased proportio... ORPHA:508533
Mucopolysaccharidosis-Plus Syndrome
Macroglossia, Enlarged kidney, Flared iliac wing, Macrovesicular hepatic steatosis, Neutropenia, ... OMIM:617303
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus, Unilateral cleft lip, Cleft palate, Bifid uvula, Cleft soft palate, Retrognathia ORPHA:2736
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology, Wide mouth, Unilateral brachydactyly, Shor... ORPHA:1521
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Cleft upper lip, Cleft palate, Microgna... OMIM:601076
Seckel Syndrome 7
Hip dysplasia, Madelung deformity, Hypoplasia of the uterus, Clinodactyly, Abnormality of the car... OMIM:614851
Hurler Syndrome
Flared iliac wing, Enlarged tonsils, Thick vermilion border, Hepatomegaly, Gingival overgrowth, S... OMIM:607014
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Ascites, Splenomegaly ORPHA:2414
Rothmund-Thomson Syndrome Type 1
Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Short phalanx of finger, Neutro... ORPHA:221008
Prolidase Deficiency
Thrombocytopenia, Prolonged neonatal jaundice, Hepatomegaly, Anemia, Splenomegaly, High palate, M... OMIM:170100
Essential Thrombocythemia
Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Hereditary Elliptocytosis
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Abnormal erythrocyte morpholog... ORPHA:288
Trichohepatoneurodevelopmental Syndrome
Hip dysplasia, Talipes equinovarus, Macroglossia, Downturned corners of mouth, Dental crowding, O... OMIM:618268
Dyskeratosis Congenita
Carious teeth, Anemia, Neoplasm of the pancreas, Hypoplasia of the maxilla, Cirrhosis, Thrombocyt... ORPHA:1775
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu valgum, Carious teeth, Hypoplasia of teeth, Genu varum, Coxa valga OMIM:613312
Hydrolethalus Syndrome 1
Talipes equinovarus, Bifid uterus, Postaxial hand polydactyly, Accessory spleen, Abnormal vagina ... OMIM:236680
Sickle Cell Anemia
Hemolytic anemia, Leukocytosis, Cholelithiasis, Hepatomegaly, Jaundice, Increased red cell sickli... OMIM:603903
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splenomegaly, ... OMIM:607765
Congenital Disorder Of Glycosylation, Type Iie
Overlapping fingers, Narrow mouth, Smooth philtrum, Thick vermilion border, Adducted thumb, Hepat... OMIM:608779
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Clubbing of fingers, Autoimmune thrombocyt... OMIM:614700
Fucosidosis
Macroglossia, Vacuolated lymphocytes, Absent/hypoplastic paranasal sinuses, Hepatomegaly, Cardiom... OMIM:230000
Niemann-Pick Disease, Type A
Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonat... OMIM:257200
Gaucher Disease Type 1
Cirrhosis, Biliary tract obstruction, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly,... ORPHA:77259
Multiple Sulfatase Deficiency
Broad thumb, Broad hallux phalanx, Smooth philtrum, Hepatomegaly, Splenomegaly ORPHA:585
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Aplastic anemia, Ane... ORPHA:398124
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Elevated circulating luteinizing hormone level, Increased circulating gonadotropin ... ORPHA:90793
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Hepatic... OMIM:251880
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased testicular siz... OMIM:614841
Budd-Chiari Syndrome
Peritonitis, Cirrhosis, Cholecystitis, Hepatomegaly, Jaundice, Ascites, Splenomegaly, Portal hype... ORPHA:131
Free Sialic Acid Storage Disease
Hepatomegaly, Abnormality of the upper limb, Ascites, Splenomegaly ORPHA:834
Rothmund-Thomson Syndrome Type 2
Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Short phalanx of finger, Synost... ORPHA:221016
Hermansky-Pudlak Syndrome 10
Smooth philtrum, Neutropenia, Hepatomegaly, Splenomegaly, Retrognathia OMIM:617050
Sitosterolemia 1
Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosis, Reticulocytosis, Giant plate... OMIM:210250
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly ORPHA:90033
Mucopolysaccharidosis Type 7
Epiphyseal stippling, Hepatitis, Metatarsus adductus, Abnormal hip bone morphology, Ascites, Sple... ORPHA:584
Hardikar Syndrome
Hepatomegaly, Jaundice, Cholangitis, Vaginal atresia, Cleft palate, Cleft upper lip, Splenomegaly... OMIM:612726
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Macroglossia, Split hand, Hepatomegaly, Splenomegaly, Thick lower lip ... OMIM:309900
Mannosidosis, Alpha B, Lysosomal
Femoral bowing, Macroglossia, Vacuolated lymphocytes, Mandibular prognathia, Hepatomegaly, Gingiv... OMIM:248500
Shwachman-Diamond Syndrome
Carious teeth, Metaphyseal irregularity, Neutropenia, Pancytopenia, Pancreatic hypoplasia, Anemia... ORPHA:811
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Decreased proportion... ORPHA:3261
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph node hypop... OMIM:613179
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Lymphadenopathy, Thrombocytopenia, Ab... ORPHA:98849
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Gaucher Disease, Perinatal Lethal
Narrow mouth, Open mouth, Micrognathia, Everted lower lip vermilion, Thrombocytopenia, Hepatomega... OMIM:608013
Tangier Disease
Hepatomegaly, Left ventricular hypertrophy, Splenomegaly OMIM:205400
Mucolipidosis Ii Alpha/Beta
Metaphyseal widening, Long philtrum, Macroglossia, Flared iliac wing, Split hand, Carpal bone hyp... OMIM:252500
Mucopolysaccharidosis, Type Iiid
Drooling, Wide mouth, Hepatomegaly, Splenomegaly, Thick lower lip vermilion OMIM:252940
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia OMIM:619046
Coach Syndrome 1
Cirrhosis, Postaxial hand polydactyly, Abnormal abdomen morphology, Wide mouth, Hepatic fibrosis,... OMIM:216360
Mucopolysaccharidosis Type 1
Thick lower lip vermilion, Abnormality of epiphysis morphology, Split hand, Everted lower lip ver... ORPHA:579
Gm1 Gangliosidosis
Long philtrum, Macroglossia, Camptodactyly of finger, Narrow mouth, Abnormality of the scrotum, A... ORPHA:354
Cranioectodermal Dysplasia 2
Polydactyly, High palate, Broad philtrum, Bile duct proliferation, Micrognathia, Postaxial hand p... OMIM:613610
Refsum Disease
Hammertoe, Abnormality of epiphysis morphology, Short metacarpal, Splenomegaly ORPHA:773
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly OMIM:252900
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Lymphadenopathy, Cervical lym... ORPHA:2442
Proteus Syndrome
Carious teeth, Abnormal dental enamel morphology, Ovarian neoplasm, Sirenomelia, Abnormality of t... ORPHA:744
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Hepatocellular carcinoma, Hepatomegaly, Testicular atrophy, Cardiomegaly, Cholangiocar... ORPHA:465508
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Hypereosinophilia, Splenomegaly, Palmoplantar hyperker... OMIM:617388
Caroli Disease
Cirrhosis, Leukocytosis, Intrahepatic cholestasis, Biliary cirrhosis, Cholelithiasis, Cholestasis... ORPHA:53035
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Extramedullary hematopoiesi... ORPHA:822
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Hypoplasia of teeth,... ORPHA:2909
Juvenile Idiopathic Arthritis
Mediastinal lymphadenopathy, Abnormal sacroiliac joint morphology, Hepatomegaly, Splenomegaly ORPHA:92
Primary Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Splenomegaly ORPHA:90970
Majeed Syndrome
Hypochromic microcytic anemia, Metaphyseal irregularity, Leukocytosis, Congenital hypoplastic ane... ORPHA:77297
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Pancreatic cysts, Hepatic cysts, Periportal fibrosis, Hepatomegaly, Splenomegaly... OMIM:263200
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Acroosteolysis of distal phalanges (feet), Hepatic steatosis, Polycystic ovaries, Hepatomegaly, O... ORPHA:280365
Wolf-Hirschhorn Syndrome
Cryptorchidism, Downturned corners of mouth, Split hand, Biliary tract abnormality, Oral cleft, M... OMIM:194190
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver ORPHA:91138
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Townes-Brocks Syndrome 1
Cryptorchidism, Bifid uterus, 3-4 toe syndactyly, Short metatarsal, Broad thumb, Bifid scrotum, P... OMIM:107480
Trichodermodysplasia-Dental Alterations Syndrome
Abnormal morphology of female internal genitalia, Delayed eruption of teeth, Abnormality of denta... ORPHA:3353
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Long philtrum, Pancreatic cysts, Cholestasis, Hepatic fibrosis, Hepatomegaly, Hepatitis, Pancreat... OMIM:610199
Gray Platelet Syndrome
Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly OMIM:139090
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Everted lower lip vermilion, Splenomegaly OMIM:252930
Typhoid
Hepatomegaly, Splenomegaly ORPHA:99745
Dyskeratosis Congenita, Autosomal Dominant 1
Oral leukoplakia, Cirrhosis, Carious teeth, Lymphopenia, Thrombocytopenia, Aplastic anemia, Anemi... OMIM:127550
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Cardiac-Urogenital Syndrome
Cryptorchidism, Ambiguous genitalia, Accessory spleen, Bifid scrotum, Micropenis, Aplasia of the ... OMIM:618280
Simpson-Golabi-Behmel Syndrome
Cryptorchidism, Broad thumb, Congenital hip dislocation, Mandibular prognathia, High, narrow pala... ORPHA:373
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis, Splenomegaly ORPHA:79083
American Trypanosomiasis
Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:3386
Niemann-Pick Disease, Type C1
Bone-marrow foam cells, Fetal ascites, Sea-blue histiocytosis, Hepatomegaly, Prolonged neonatal j... OMIM:257220
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Cirrhosis, Hepatocellular adenoma, Hepatocellular carcinoma, Hepatic steatosis, Polycystic ovarie... ORPHA:370
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Rectal abscess, Hepatomegaly, Splenomegaly, Liver absces... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Rectal abscess, Hepatomegaly, Splenomegaly, Liver absces... OMIM:233710
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Corneodermatoosseous Syndrome
Carious teeth, Abnormal dental enamel morphology, Abnormality of finger, Palmoplantar keratoderma... ORPHA:3194
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Stomatitis, Hepatomegaly, Splenomegaly, Neutrophilia, Abscess OMIM:612852
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatic steatosis, Mandibular prognathia, Large hands, Acute pancreatitis, Hepatomegal... OMIM:608594
Triosephosphate Isomerase Deficiency
Chronic hemolytic anemia, Hemolytic anemia, Cholecystitis, Cholelithiasis, Normocytic anemia, Jau... OMIM:615512
Multiple Sulfatase Deficiency
Hepatomegaly, Broad hallux, Broad thumb, Splenomegaly OMIM:272200
Hereditary Orotic Aciduria
Hip dysplasia, Anemia, Splenomegaly ORPHA:30
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly ORPHA:33577
Rubinstein-Taybi Syndrome 1
Enamel hypoplasia, Cryptorchidism, Bifid uterus, Narrow palate, Narrow mouth, Broad thumb, Dental... OMIM:180849