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Gene: Fzd9 MGI:1313278

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

frizzled class receptor 9

Synonyms:

mfz9, Fz9, frizzled 9

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Fzd9 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.

Human diseases associated with Fzd9 (0 diseases)
Human diseases predicted to be associated with Fzd9 (1096 diseases)

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

The table below shows human diseases predicted to be associated to Fzd9 by phenotypic similarity.

Disease	Matching phenotypes	Source
Superior Transverse Scapular Ligament, Calcification Of, Familial	Ectopic ossification in ligament tissue	OMIM:601708
Osteomesopyknosis	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog...	ORPHA:2777
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Dysplasia Of Head Of Femur, Meyer Type	Enlarged tonsils, Leukocytosis	ORPHA:168621
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia	OMIM:616871
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Immunodeficiency 88	Eosinophilia	OMIM:619630
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Gnathodiaphyseal Dysplasia	Osteopenia, Mandibular osteomyelitis, Thickened cortex of long bones, Scoliosis, Recurrent fractures	ORPHA:53697
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:601859
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor...	ORPHA:2790
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Acute Myelomonocytic Leukemia	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	ORPHA:517
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Osteopenia And Sparse Hair	Osteopenia, Joint hypermobility	OMIM:259690
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen...	OMIM:226990
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro...	OMIM:603554
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia	OMIM:607115
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti...	OMIM:619802
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:603909
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Platyspondyly, Reduced bone mineral density, Delayed ossification of carpal bones	OMIM:617974
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia	OMIM:618987
Osteomesopyknosis	Low back pain, Increased bone mineral density	OMIM:166450
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Immunodeficiency 15B	Reduced natural killer cell count, Monocytosis	OMIM:615592
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Osteopenia, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, T...	OMIM:271530
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Monocytosi...	OMIM:619644
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane...	OMIM:603552
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Lymphaden...	ORPHA:39041
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615269
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification, Abnormality of the vertebral column	OMIM:602475
Greenberg Dysplasia	Platyspondyly, Abnormal pelvis bone ossification, Abnormal form of the vertebral bodies, Decrease...	ORPHA:1426
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD...	ORPHA:331206
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Osteoporosis	Osteoporosis	OMIM:166710
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal form of the vertebral bodies	ORPHA:1802
Osteogenesis Imperfecta, Type V	Platyspondyly, Osteopenia, Vertebral wedging, Biconcave vertebral bodies, Joint hypermobility, Li...	OMIM:610967
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Hepatosplenomegaly, Eosinophilic liver infiltration, Hepatic cysts	OMIM:618999
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Brachyolmia Type 1, Toledo Type	Abnormal odontoid process morphology, Lumbar hyperlordosis, Precocious costochondral ossification...	OMIM:271630
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count	OMIM:613495
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Brachydactylous Dwarfism, Mseleni Type	Platyspondyly, Osteopenia, Hip osteoarthritis, Osteoarthritis of the elbow, Limitation of joint m...	ORPHA:2619
Roifman Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Lymphadenopathy	OMIM:616651
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Absent circulating B cells, Splenomegaly, Generalized lymphadenopathy	OMIM:620282
Osteochondrosis Of The Metatarsal Bone	Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone	ORPHA:564003
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemi...	OMIM:304790
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormal cortical bone morphology, Hyperlordosis, Reduced bone mineral densi...	ORPHA:970
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ...	ORPHA:543
Metatropic Dysplasia	Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Hypoplastic cervical vert...	ORPHA:2635
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Pyle Disease	Platyspondyly, Limited elbow extension, Reduced bone mineral density, Thin bony cortex, Scoliosis	OMIM:265900
Sclerosteosis	Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density	ORPHA:3152
Hip Dysplasia, Beukes Type	Kyphosis, Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormal bon...	ORPHA:2114
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Hepatitis, Lymphopenia, Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD3-positive T ...	ORPHA:169160
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre...	OMIM:300853
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Osteoporosis, Kyphosis	ORPHA:2786
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Epiphyseal Dysplasia, Multiple, 7	Platyspondyly, Advanced ossification of carpal bones, Vertebral wedging	OMIM:617719
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Abnormal B cell morphology	OMIM:616911
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Sclerotic vertebral endplates, Clavicular sclerosis	OMIM:615198
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100025
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu...	ORPHA:486
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv...	OMIM:615897
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Splenomegaly, Lymphadenopathy	OMIM:611762
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy...	ORPHA:277
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Wells Syndrome	Eosinophilia	ORPHA:901
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Eosinophilia	OMIM:618092
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Familial Expansile Osteolysis	Pathologic fracture, Osteolysis, Thin bony cortex	OMIM:174810
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Increased...	OMIM:259450
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Acute Generalized Exanthematous Pustulosis	Cholestasis, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia	ORPHA:293173
Gnathodiaphyseal Dysplasia	Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis	OMIM:166260
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces...	ORPHA:2686
Osteoarthritis With Mild Chondrodysplasia	Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ...	OMIM:604864
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Exocrine pancreatic insufficiency, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eosinophilia,...	OMIM:615952
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density	OMIM:241520
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:37748
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Kyphosis, Bowing of limbs due to multiple fractures, Decreased calvarial ossificat...	OMIM:259440
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal test...	ORPHA:54251
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Reduced bone mineral density, Recurrent fractures, Severe platyspondyly	OMIM:620639
Neutrophil Immunodeficiency Syndrome	Abnormality of neutrophil physiology, Leukocytosis	ORPHA:183707
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Joint hypermobility, Subperio...	OMIM:114000
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Limitation of joint mobility, Abnormal cortical bone morphology	ORPHA:166277
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:618495
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Platyspondyly, Lumbar hyperlordosis, Thoracic kyphosis, Intervertebral space narrowing, Decreased...	OMIM:609223
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Osteogenesis Imperfecta, Type Xxii	Multiple small vertebral fractures, Thin bony cortex, Multiple prenatal fractures, Reduced bone m...	OMIM:619795
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Sclerosis of skull base, Knee flexion contracture, Hip contracture, Thoracolumbar ...	OMIM:313420
Calvarial Doughnut Lesions With Bone Fragility	Platyspondyly, Osteopenia, Osteoporosis, Scoliosis, Recurrent fractures	OMIM:126550
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Corti...	ORPHA:1310
Bruck Syndrome	Platyspondyly, Kyphosis, Joint stiffness, Osteoporosis, Scoliosis, Arthrogryposis multiplex conge...	ORPHA:2771
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Absence of the sacrum, Limi...	ORPHA:79106
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Osteoporosis	ORPHA:71267
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly	ORPHA:397596
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cort...	OMIM:144750
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia	OMIM:608898
Spondyloepiphyseal Dysplasia, Stanescu Type	Platyspondyly, Vertebral wedging, Stiff neck, Joint stiffness, Kyphoscoliosis, Beaking of vertebr...	OMIM:616583
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology	ORPHA:3165
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia	OMIM:253600
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Hepatitis, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, He...	OMIM:620565
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Splenomegaly, Hypereosinophilia, Autoimmune hemolytic anemia	OMIM:617388
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Ck Syndrome	Abnormal cortical bone morphology, Joint hypermobility, Hyperlordosis, Scoliosis, Kyphosis	OMIM:300831
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia	OMIM:618523
Osteopetrosis, Autosomal Dominant 1	Abnormality of the vertebral column, Thickened cortex of long bones, Generalized osteosclerosis, ...	OMIM:607634
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa...	OMIM:609981
Hypophosphatasia, Adult	Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac...	OMIM:146300
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Splenic cyst, Absc...	ORPHA:400
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis, Hepatitis, Lymphadenopathy	ORPHA:139402
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Platyspondyly, Multiple small vertebral fractures, Osteoporosis of vertebrae	OMIM:156510
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve...	OMIM:102700
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia	OMIM:608184
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Abnormal form of the vertebral bodies, Abnormal cortical bone morph...	ORPHA:1486
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Eosinophilia	OMIM:620532
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Classic Mycosis Fungoides	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:2584
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Abnormal vertebral morphology, Restricted large joint movement	ORPHA:163665
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Hepatomegaly, Lymphadenop...	ORPHA:507
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Combined Immunodeficiency, X-Linked	Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-...	OMIM:312863
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Agammaglobulinemia 3, Autosomal Recessive	Absent circulating B cells, Neutropenia, Abnormal T cell morphology	OMIM:613501
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen...	OMIM:600785
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Bruck Syndrome 2	Platyspondyly, Osteopenia, Elbow flexion contracture, Increased susceptibility to fractures, Knee...	OMIM:609220
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptorchidism, Erythroid hypoplasia, ...	OMIM:612541
Eosinophilic Gastroenteritis	Anemia, Eosinophilia, Leukocytosis, Ascites	ORPHA:2070
Immunodeficiency 25	Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia	OMIM:610163
Spondyloepiphyseal Dysplasia Tarda	Hypoplasia of the odontoid process, Limitation of joint mobility, Premature osteoarthritis, Limit...	ORPHA:93284
Hall-Riggs Syndrome	Platyspondyly, Osteoporosis, Scoliosis, Kyphosis, Irregular vertebral endplates	OMIM:234250
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Epiphyseal stippling, Coarse metaphyseal trabecularization, Abnormal bone ossification	ORPHA:1952
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Immunodeficiency 112	Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched...	OMIM:620449
Second Metatarsal-Metacarpal Syndrome	Synostosis of carpals/tarsals, Platyspondyly	OMIM:269630
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Cranio-Osteoarthropathy	Joint stiffness, Abnormal cortical bone morphology, Osteoarthritis, Arthritis	ORPHA:1525
Geroderma Osteodysplastica	Platyspondyly, Abnormal form of the vertebral bodies, Biconcave vertebral bodies, Joint hypermobi...	ORPHA:2078
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Intermediate Osteopetrosis	Sandwich appearance of vertebral bodies, Cortical sclerosis, Osteomyelitis, Recurrent fractures, ...	ORPHA:210110
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Dysosteosclerosis	Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Hypoplastic verte...	ORPHA:1782
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo...	OMIM:619824
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618935
Gorham-Stout Disease	Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormality of the cervica...	ORPHA:73
Pseudoachondroplasia	Delayed epiphyseal ossification, Platyspondyly, Hypoplasia of the odontoid process, Abnormal form...	ORPHA:750
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Spondylocamptodactyly Syndrome	Platyspondyly, Scoliosis, Camptodactyly of finger	ORPHA:3180
Specific Granule Deficiency 1	Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,...	OMIM:245480
Proteus Syndrome	Mandibular hyperostosis, Facial hyperostosis, Kyphoscoliosis, Thin bony cortex, Calvarial hyperos...	OMIM:176920
Hypophosphatemic Bone Disease	Rickets, Osteomalacia	OMIM:146350
Progressive Pseudorheumatoid Dysplasia	Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Joint stiffness, Sclerotic...	OMIM:208230
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Atlantoaxial instability, Kyphoscoliosis, Short neck, Generalized osteoporosis, Sm...	OMIM:184095
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Platyspondyly, Osteopenia, Flexion contracture	ORPHA:157965
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Congenital Toxoplasmosis	Ascites, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice	ORPHA:858
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly	OMIM:614480
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Spondylocostal Dysostosis 3, Autosomal Recessive	Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ...	OMIM:609813
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Osteoporotic tarsals, Ovoid vertebral bodies	OMIM:609052
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Leukocytosis	ORPHA:2902
Tularemia	Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph...	ORPHA:3392
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope...	ORPHA:276
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Aggressive Systemic Mastocytosis	Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of C...	ORPHA:98850
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Immunodeficiency 62	Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran...	OMIM:618459
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis	ORPHA:98827
Osteogenesis Imperfecta, Type Xviii	Biconcave vertebral bodies, Joint hypermobility, Thin bony cortex, Generalized osteoporosis, Vert...	OMIM:617952
Chondroectodermal Dysplasia With Night Blindness	Osteoporosis, Osteopenia, Platyspondyly, Fractures of the long bones	ORPHA:319195
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Galactosemia Iii	Hepatomegaly, Jaundice, Splenomegaly	OMIM:230350
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormal vertebral morphology, Platyspondyly, Delayed ossification of carpal bones, Limited hip m...	ORPHA:93346
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy...	ORPHA:457077
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly	OMIM:300635
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade...	ORPHA:100026
Ollier Disease	Platyspondyly, Joint stiffness, Osteolysis	ORPHA:296
Idiopathic Juvenile Osteoporosis	Osteoporosis, Vertebral compression fracture, Kyphosis, Recurrent fractures	ORPHA:85193
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Hypocalcemic Vitamin D-Resistant Rickets	Coarse metaphyseal trabecularization, Abnormal form of the vertebral bodies, Osteomalacia, Recurr...	ORPHA:93160
Refractory Anemia	Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi...	ORPHA:98826
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Joint hypermobility, Osteoporosis, Scoliosis, Recurrent fractures	OMIM:619131
Alveolar Echinococcosis	Biliary cirrhosis, Cutaneous abscess, Abnormal mesentery morphology, Portal hypertension, Hepatic...	ORPHA:284
Lymphatic Filariasis	Lymphadenitis, Hypereosinophilia, Orchitis, Abnormality of the lymphatic system, Vaginal hydrocel...	ORPHA:2035
Hereditary Folate Malabsorption	Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc...	OMIM:618048
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:391
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Thin bony cortex, Thoracic kyphosis	OMIM:619638
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Cutaneous abscess, Sterile abscess	OMIM:618282
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Hepatomegaly, Jaundice, Splenomegaly	OMIM:620010
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Inguinal lymphadenopathy, Cervical lymphadenopathy	OMIM:620514
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteoporosis, Osteopenia	OMIM:615270
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Abnormal vertebral morphology, Platyspondyly, Central vertebral ...	ORPHA:93352
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Immunodeficiency, Common Variable, 13	Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Scoliosis, Increased susceptibility to fractures	OMIM:615066
Hemochromatosis, Type 2B	Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia	OMIM:613313
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Progressive Pseudorheumatoid Arthropathy Of Childhood	Platyspondyly, Joint contracture of the hand, Limitation of joint mobility, Vertebral wedging, Hy...	ORPHA:1159
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Grant Syndrome	Joint hypermobility, Abnormal cortical bone morphology, Decreased skull ossification	ORPHA:2097
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio...	OMIM:301082
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:172
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count	OMIM:613493
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology	OMIM:615214
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele...	OMIM:616738
Sézary Syndrome	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:3162
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler...	OMIM:166600
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology	ORPHA:97290
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Lymphopenia, Leukopenia, Splenomegaly	OMIM:620210
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Familial Papillary Or Follicular Thyroid Carcinoma	Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology	ORPHA:319487
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Platyspondyly, Anisospondyly, Delayed patellar ossification, Ovoid vertebral bodies, Short neck, ...	ORPHA:163649
Metatropic Dysplasia	Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Abnormal ench...	OMIM:156530
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H...	OMIM:616860
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt...	ORPHA:158061
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos...	ORPHA:514
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ...	ORPHA:449432
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, ...	OMIM:257200
Heme Oxygenase 1 Deficiency	Cervical lymphadenopathy, Lymphadenopathy, Coombs-positive hemolytic anemia, Thrombocytosis, Hepa...	OMIM:614034
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis	ORPHA:3318
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Platyspondyly, Limited elbow extension, Delayed pubic bone ossification, Abnormality of the verte...	ORPHA:1856
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Increased susceptibility to fractures, Bowing of limbs due to multiple fract...	OMIM:166220
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Vertebral segmentation defect, Generalized joint hypermobility, Kyp...	ORPHA:85198
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Juvenile Arthritis	Leukocytosis, Thrombocytosis	OMIM:618795
Congenital Bile Acid Synthesis Defect Type 1	Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg...	ORPHA:79301
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia	OMIM:179830
Weismann-Netter Syndrome	Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal form of the vertebral bodies	ORPHA:3344
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Osteopetrosis, Autosomal Recessive 8	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:615085
Aspergillosis	Eosinophilia, Hepatitis, Neutropenia	ORPHA:1163
Osteopetrosis, Autosomal Dominant 3	Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly	OMIM:618107
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in pre...	OMIM:613179
Silver-Russell Syndrome Due To 11P15 Microduplication	Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Severe intraute...	ORPHA:231144
Desmoplastic Small Round Cell Tumor	Ascites, Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Anem...	ORPHA:83469
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Sple...	ORPHA:3260
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly...	ORPHA:79456
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	OMIM:610333
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Babesiosis	Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic anemia	ORPHA:108
Geroderma Osteodysplasticum	Platyspondyly, Osteopenia, Increased susceptibility to fractures, Biconcave vertebral bodies, Kyp...	OMIM:231070
Immunodeficiency 23	Lymphopenia, Abscess, Eosinophilia, Neutropenia, Hemolytic anemia	OMIM:615816
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Leukocytosis, Lymphadenopathy, Neutrophilia	OMIM:617099
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly	OMIM:618394
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Decreased proportion of CD4-positive helper...	OMIM:243700
Cinca Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality of neutrophils, Ab...	ORPHA:1451
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Loeffler Endocarditis	Eosinophilia, Left ventricular hypertrophy	ORPHA:75566
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Osteopenia, Kyphosis, Decreased calvarial ossification, Decreased skull ossificati...	OMIM:610915
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Limitation of joint mobility, Synostosis of carpal bones, Osteoarthritis, Osteopor...	ORPHA:93351
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno...	ORPHA:83451
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice	OMIM:619658
Igg4-Related Pachymeningitis	Eosinophilia, Pancreatitis, Lymphadenitis, Parotitis	ORPHA:449427
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis	OMIM:618398
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	ORPHA:99642
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Platyspondyly, Lumbar hyperlordosis, Distal ulnar epiphyseal stippling, Beaking of vertebral bodi...	OMIM:609616
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia	ORPHA:83313
Harderoporphyria	Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia	OMIM:618892
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Splenomegaly, Decreased proportion of memory T cells, Anemia, T lymp...	OMIM:620632
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosi...	OMIM:602557
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Hypoplasia of the odontoid process, Delayed pubic bone ossification, C1-C2 subluxa...	OMIM:184250
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Spondylometaphyseal Dysplasia, A4 Type	Platyspondyly, Limitation of joint mobility	ORPHA:168555
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega...	ORPHA:158057
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Platyspondyly, Hip osteoarthritis, Osteoarthritis	OMIM:271600
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Hepatic cysts	OMIM:617425
Idiopathic Hypercalciuria	Osteoporosis, Osteopenia	ORPHA:2197
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Thin bony cortex, Increased bone mineral density, Wide anterior fontanel, Vertebral a...	ORPHA:85184
Spondylo-Ocular Syndrome	Platyspondyly, Joint hypermobility, Short neck, Osteoporosis, Abnormal intervertebral disk morpho...	ORPHA:85194
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Ankle flexion contracture, Cervical spinal canal stenosis, Hip contracture, Knee flexion contract...	OMIM:620232
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Scoliosis, Recurre...	OMIM:615220
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Rhabdoid Tumor	Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia	ORPHA:69077
Coproporphyria, Hereditary	Hepatomegaly, Jaundice, Splenomegaly	OMIM:121300
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice	OMIM:619868
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Joint hypermobility, Kyphoscoliosis, Osteoporosis, Vertebral compression fracture,...	OMIM:616507
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Platyspondyly, Hypoplasia of the odontoid process, Abnormal ench...	ORPHA:93314
Amegakaryocytic Thrombocytopenia, Congenital, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia	OMIM:620481
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Short neck, Decreased skull ossification	ORPHA:93267
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly	OMIM:608540
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Autoinflammatory Disease, Systemic, X-Linked	Hepatosplenomegaly, Neutropenia, B lymphocytopenia	OMIM:301081
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Splenomegaly, Hepatocellular carcinoma	OMIM:613490
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly, Hepatic fibrosis	OMIM:616719
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade...	ORPHA:47612
Immunodeficiency 10	Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lymphadenopathy, Hepatomega...	OMIM:612783
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Joint hypermobility, Decreased calvarial ossification, Vertebral compr...	OMIM:616229
Infantile Sialic Acid Storage Disease	Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes	OMIM:269920
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Splenomegaly, Ascites	ORPHA:1046
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy	ORPHA:100083
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra...	OMIM:600081
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Thoracic platyspondyly, Increased intervertebral space, Bea...	OMIM:618961
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h...	OMIM:615234
Immunodeficiency 114, Folate-Responsive	Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly	OMIM:620603
Igg4-Related Aortitis	Hypereosinophilia	ORPHA:449400
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplasia of the odontoid process, Limitation of joint mobility, Atlantoaxial ins...	OMIM:607326
Osteogenesis Imperfecta, Type Xiii	Platyspondyly, Increased bone mineral density, Joint hypermobility, Kyphoscoliosis, Limitation of...	OMIM:614856
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Abnormal B cell count, Hepatomegaly, Autoimmune thrombocytopenia, Enlarged...	OMIM:613496
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra...	OMIM:300554
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia	OMIM:612692
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Platyspondyly, Osteopenia, Joint contracture of the hand, Camptodactyly of finger, Joint hypermob...	OMIM:612350
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Lipogranulomatosis	OMIM:228000
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Platyspondyly, Joint hypermobility, Narrow vertebral interpedicular distance, Short neck, Scolios...	OMIM:618395
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B...	OMIM:619705
Wolman Disease	Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells	ORPHA:75233
Netherton Syndrome	Hypereosinophilia	OMIM:256500
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Absence of lymph node germinal center, Ascites, Hepatospl...	ORPHA:79124
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Kyphosis, Lumbar hyperlordosis, Limited elbow movement, Short neck, Cervical insta...	ORPHA:94068
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,...	OMIM:600802
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio...	OMIM:606367
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Immunodeficiency 92	Thrombocytosis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decreased proportion of clas...	OMIM:619652
Amyloidosis, Hereditary Systemic 2	Cholestasis, Hepatomegaly, Splenomegaly	OMIM:105200
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Osteoarthritis	ORPHA:93283
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
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
Pseudo-Torch Syndrome 3	Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia	OMIM:618886
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul...	ORPHA:64743
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos...	OMIM:616828
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Increased B cell count, Absent peripheral lymph nodes in presence of infe...	ORPHA:98813
Mucopolysaccharidosis, Type Iva	Platyspondyly, Hypoplasia of the odontoid process, Joint hypermobility, Cervical subluxation, Sho...	OMIM:253000
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Limited hip movement...	OMIM:183900
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Kyphoscoliosis, Short ne...	OMIM:184100
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Platyspondyly, Joint stiffness, Abnormal intervertebral disk morphology, Osteoarthritis	ORPHA:1345
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Decreased p...	OMIM:614700
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia	OMIM:618108
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly	ORPHA:93476
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Generalized lym...	ORPHA:829
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Th...	ORPHA:848
Cole-Carpenter Syndrome 2	Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Platyspondyly, Kyphosis, Recur...	OMIM:616294
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Lymphadenopathy, Hepatomegaly	ORPHA:99812
Odontochondrodysplasia 1	Platyspondyly, Biconvex vertebral bodies, Joint hypermobility, Osteoporosis, Coronal cleft verteb...	OMIM:184260
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den...	OMIM:214500
Autosomal Dominant Brachyolmia	Platyspondyly, Increased vertebral height, Kyphoscoliosis	ORPHA:93304
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia	OMIM:616050
Hb Bart'S Hydrops Fetalis	Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Splenomegaly	OMIM:620296
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233690
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Recurrent fractures, Osteomalacia	OMIM:613388
Cholesteryl Ester Storage Disease	Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly	ORPHA:75234
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Platyspondyly, Premature osteoarthritis	OMIM:184840
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:617591
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia	OMIM:619523
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Brachyolmia, Maroteaux Type	Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Spondylometaphyseal Dysplasia, Axial	Splenomegaly	OMIM:602271
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ...	ORPHA:289176
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Pathologic fracture, Hypophosphatemic rickets, Reduced bone mineral density, Osteomalacia	ORPHA:157215
Gm1-Gangliosidosis, Type Ii	Platyspondyly, Thoracolumbar kyphosis, Joint stiffness, Hypoplastic vertebral bodies, Beaking of ...	OMIM:230600
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell...	OMIM:607676
Coccidioidomycosis	Granuloma, Abnormality of the spleen, Abnormality of the liver, Abscess, Eosinophilia, Peritoniti...	ORPHA:228123
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Cryptorchidism, Macrocytic anemia, Elev...	OMIM:620501
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, B lymphocytopenia	ORPHA:70593
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho...	OMIM:308230
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Anemia, ...	OMIM:614742
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Pituitary adenoma, Hepatitis, Macrocytic anemia, Eosinophilia, Adrenocorticotr...	ORPHA:199299
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Platyspondyly, Limitation of joint mobility, Vertebral wedging, Bi...	ORPHA:93315
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis	OMIM:612526
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Thin ...	OMIM:241530
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eosinophilia	ORPHA:2314
Neuraminidase Deficiency	Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells	OMIM:256550
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Platyspondyly, Hypoplasia of the odont...	OMIM:177170
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Neutrophilia	OMIM:260920
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Delayed epiphyseal ossification, Platyspondyly, Thoracolumbar kyphosis, Elbow flexion contracture...	ORPHA:93360
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
Cantu Syndrome	Platyspondyly, Cuboid-shaped vertebral bodies, Short neck, Osteoporosis, Ovoid vertebral bodies	OMIM:239850
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anem...	OMIM:267700
Melnick-Needles Syndrome	Anisospondyly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Joint hypermobility,...	ORPHA:2484
Mucopolysaccharidosis Type 4	Platyspondyly, Spinal canal stenosis, Joint hypermobility, Short neck, Hyperlordosis, Scoliosis, ...	ORPHA:582
Kniest Dysplasia	Delayed epiphyseal ossification, Platyspondyly, Hypoplasia of the odontoid process, Vertebral wed...	ORPHA:485
Immunodeficiency, Common Variable, 7	Splenomegaly	OMIM:614699
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells	ORPHA:133
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc...	OMIM:194380
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o...	ORPHA:85188
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development	Platyspondyly, Anterior beaking of lumbar vertebrae	OMIM:271620
Pseudodiastrophic Dysplasia	Platyspondyly, Hypoplasia of the odontoid process, Tongue-like lumbar vertebral deformities, Lumb...	OMIM:264180
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	ORPHA:85212
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombo...	ORPHA:540
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteoporosis, Osteopenia, Increased susceptibility to fractures	OMIM:612287
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Splenomegaly	OMIM:615637
Hemochromatosis, Type 2A	Hepatomegaly, Cirrhosis, Splenomegaly	OMIM:602390
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatomegaly, Lymph...	OMIM:603553
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia	ORPHA:89937
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Platyspondyly, Decreased skull ossification	OMIM:300863
Schwartz-Jampel Syndrome, Type 1	Platyspondyly, Joint contracture of the hand, Cervical kyphosis, Shoulder flexion contracture, Lu...	OMIM:255800
Igg4-Related Ophthalmic Disease	Sialadenitis, Orchitis, Eosinophilia, Abnormality of the anterior pituitary, Pancreatitis, Lympha...	ORPHA:449563
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Spondylometaphyseal Dysplasia, Kozlowski Type	Platyspondyly, Hypoplasia of the odontoid process, Elbow flexion contracture, Kyphoscoliosis, Sho...	OMIM:184252
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Platyspondyly, Osteosclerosis of ribs, Lumbar hyperlordosis, Irreg...	ORPHA:174
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Axial Spondylometaphyseal Dysplasia	Platyspondyly, Osteopenia, Posterior wedging of vertebral bodies, Aplasia/Hypoplasia of the verte...	ORPHA:168549
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume	ORPHA:494444
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Agammaglobulinemia, X-Linked	Lymph node hypoplasia, Neutropenia, B lymphocytopenia, Anemia, Enteroviral hepatitis, T lymphocyt...	OMIM:300755
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Osteogenesis Imperfecta, Type Ii	Platyspondyly, Recurrent fractures, Absent ossification of calvaria, Multiple prenatal fractures	OMIM:166210
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Fanconi Renotubular Syndrome 3	Rickets	OMIM:615605
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Osteopenia, Kyphosis, Pathologic fracture, Increased susceptibility to fractures, ...	OMIM:259770
Otospondylomegaepiphyseal Dysplasia	Abnormal vertebral morphology, Platyspondyly, Limitation of joint mobility, Lumbar hyperlordosis,...	ORPHA:1427
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Er...	ORPHA:231222
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Chronic Granulomatous Disease	Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess	ORPHA:379
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets	OMIM:211600
Infantile Systemic Hyalinosis	Osteopenia, Osteomalacia, Camptodactyly of finger, Joint stiffness, Increased susceptibility to f...	ORPHA:2176
Osteopetrosis, Autosomal Recessive 9	Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis	OMIM:620366
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Platyspondyly, Osteopenia, Carpal synostosis, Increased susceptibility to fractures, Joint hyperm...	OMIM:615349
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Anauxetic Dysplasia 1	Platyspondyly, Atlantoaxial dislocation, Elbow flexion contracture, Lumbar hyperlordosis, Limited...	OMIM:607095
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly	OMIM:306000
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia,...	ORPHA:398124
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,...	ORPHA:549
Dysosteosclerosis	Platyspondyly, Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibil...	OMIM:224300
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Rickets, Osteomalacia, Joint stiffness, Joint hypermobility, Osteoporosis, Scoliosis	ORPHA:1901
Common Variable Immunodeficiency	Lymphopenia, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia...	ORPHA:1572
Multiple Epiphyseal Dysplasia, Beighton Type	Limitation of joint mobility, Thoracic platyspondyly, Joint stiffness, Biconcave vertebral bodies...	ORPHA:166011
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Stickler Syndrome Type 1	Platyspondyly, Abnormal vertebral epiphysis morphology, Osteoarthritis, Joint hypermobility	ORPHA:90653
Autosomal Recessive Stickler Syndrome	Platyspondyly, Irregular vertebral endplates, Joint hypermobility	ORPHA:250984
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Hypoplastic sacrum, Lumbar hyperlordosis, Limited elbow extension, Osteoarthritis,...	OMIM:271650
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis	OMIM:616084
Osteogenesis Imperfecta, Type I	Osteopenia, Increased susceptibility to fractures, Biconcave flattened vertebrae, Joint hypermobi...	OMIM:166200
Kniest Dysplasia	Delayed epiphyseal ossification, Platyspondyly, Limitation of joint mobility, Tracheomalacia, Hip...	OMIM:156550
Granulomatous Disease, Chronic, X-Linked	Granuloma, Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lympha...	OMIM:306400
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Lymphadenitis, Cholestasis, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphaden...	OMIM:615895
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre...	OMIM:619374
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepatomegaly, Lymphadenop...	OMIM:610377
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Osteopenia, Decreased skull ossification, Short neck, Multiple prenatal fractures,...	OMIM:616897
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem...	OMIM:620430
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, B lymphocytopenia	OMIM:620133
Igg4-Related Kidney Disease	Lymphadenitis, Abnormal mesentery morphology, Sialadenitis, Cholecystitis, Sclerosing cholangitis...	ORPHA:449395
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,...	OMIM:300009
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Sialidosis Type 2	Hepatomegaly, Splenomegaly, Ascites	ORPHA:87876
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Platyspondyly, Osteopenia, Limited elbow extension, Short neck, Thoracolumbar scoliosis, Craniosy...	OMIM:616723
Desbuquois Dysplasia 1	Platyspondyly, Joint hypermobility, Short neck, Hyperlordosis, Osteoarthritis, Advanced ossificat...	OMIM:251450
Incontinentia Pigmenti	Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Eosinophilia, Hypoplastic ...	OMIM:308300
Rhizomelic Dysplasia, Ain-Naz Type	Platyspondyly, Limitation of joint mobility	OMIM:619598
Mucopolysaccharidosis, Type Ivb	Platyspondyly, Hypoplasia of the odontoid process, Joint stiffness, Joint hypermobility, Cervical...	OMIM:253010
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia	ORPHA:183
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3386
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Abnormal B cell morphology, Cryptorchidism	OMIM:616910
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets	OMIM:611590
Castleman Disease	Follicular hyperplasia, Abdominal mass, Generalized lymphadenopathy, Lymphadenopathy, Thrombocyto...	ORPHA:160
Hypophosphatasia, Infantile	Platyspondyly, Unossified vertebral bodies, Increased susceptibility to fractures, Decreased calv...	OMIM:241500
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Platyspondyly, Craniofacial osteosclerosis, Increased skull ossificatio...	OMIM:618476
Osteogenesis Imperfecta, Type X	Platyspondyly, Osteopenia, Joint hypermobility, Generalized joint hypermobility, Decreased calvar...	OMIM:613848
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets	OMIM:560000
Mucoepithelial Dysplasia, Hereditary	Eosinophilia	OMIM:158310
Fetal Cytomegalovirus Syndrome	Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice	ORPHA:294
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophilia, Decreased proportio...	ORPHA:508533
Gm1-Gangliosidosis, Type Iii	Hepatomegaly, Splenomegaly	OMIM:230650
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Short stature, Postnatal growth retardation, Truncal obesity, Abdominal obesity	OMIM:618160
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra...	OMIM:264700
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Ascites	ORPHA:2414
Letterer-Siwe Disease	Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice	OMIM:246400
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra...	OMIM:277440
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,...	OMIM:300835
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Familial Osteodysplasia, Anderson Type	Kyphosis, Abnormal form of the vertebral bodies, Abnormal cortical bone morphology, Increased sus...	ORPHA:2769
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Congenital Rubella Syndrome	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice	ORPHA:290
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Hypochromic microcytic anemia	OMIM:619632
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna	OMIM:231095
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Ankle flexion contracture, Carpal osteolysis, Interphalangeal joint contracture of fi...	OMIM:259600
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Platyspondyly, Irregular vertebral endplates, Lumbar scoliosis, Kyphoscoliosis	OMIM:612847
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Platyspondyly, Hypoplasia of the odontoid process, Irregular tarsal ossification, Hyperlordosis, ...	OMIM:226980
Idiopathic Aplastic Anemia	Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia	ORPHA:88
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Avascular Necrosis Of Femoral Head, Primary, 2	Platyspondyly	OMIM:617383
Bcard Syndrome	Platyspondyly, Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, P...	OMIM:612394
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen...	ORPHA:232
Insulin-Like Growth Factor I Deficiency	Osteopenia, Postnatal growth retardation, Intrauterine growth retardation, Decreased body weight,...	OMIM:608747
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan...	ORPHA:50918
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo...	OMIM:617718
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, B...	OMIM:257220
Autoimmune Hemolytic Anemia, Warm Type	Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90033
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ...	ORPHA:158048
Fibrous Dysplasia Of Bone	Rickets, Osteomalacia, Cortical irregularity, Pathologic fracture, Fibrous dysplasia of the bones...	ORPHA:249
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:230800
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia	OMIM:612527
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Congenital Disorder Of Glycosylation, Type Iij	Hepatomegaly, Cirrhosis, Splenomegaly	OMIM:613489
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Osteomalacia, Hypophosphatemic rickets, Osteoarthritis, Spinal canal stenosis	OMIM:307800
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ...	ORPHA:35078
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Schneckenbecken Dysplasia	Platyspondyly, Narrow vertebral interpedicular distance, Short neck, Advanced ossification of car...	OMIM:269250
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Platyspondyly, Hypoplasia of the odontoid process, Irregularity of vertebral bodies	ORPHA:85172
Immunodeficiency 43	Reduced natural killer cell count, Lung abscess, B lymphocytopenia	OMIM:241600
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Paratracheal lymphadenop...	OMIM:615934
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly	OMIM:235555
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Thrombocytopenia	OMIM:619693
Thrombocytopenia-Absent Radius Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia, Pancreatic cysts	OMIM:274000
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Platyspondyly, Irregularity of vertebral bodies	OMIM:609324
Mixed Connective Tissue Disease	Leukopenia, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadeno...	ORPHA:809
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Macrocephaly/Autism Syndrome	Hepatomegaly, Lymphopenia, Hydrocele testis, Splenomegaly	OMIM:605309
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia	OMIM:614069
Sarcoidosis	Abnormal lymph node morphology, Parotitis, Leukopenia, Enlargement of parotid gland, Portal hyper...	ORPHA:797
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly	OMIM:608361
Pachydermoperiostosis	Limitation of joint mobility, Osteomyelitis, Abnormal cortical bone morphology, Arthritis, Osteop...	ORPHA:2796
Thrombocytopenia 2	Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia	OMIM:188000
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Splenomegaly, Abscess, Neutrophilia	OMIM:612852
Morquio Syndrome C	Platyspondyly	OMIM:252300
Stüve-Wiedemann Syndrome	Osteopenia, Limitation of joint mobility, Camptodactyly of finger, Elbow flexion contracture, Abn...	ORPHA:3206
Majeed Syndrome	Leukocytosis, Splenomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Hepatom...	ORPHA:77297
Glycogen Storage Disease Ixc	Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation	OMIM:613027
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper...	OMIM:617394
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Platyspondyly, Osteopenia, Lumbar hyperlordosis, Limited elbow extension, Biconcave vertebral bod...	OMIM:271510
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr...	ORPHA:508542
Atelosteogenesis, Type Ii	Platyspondyly, Cervical kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Short nec...	OMIM:256050
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly	OMIM:616589
Atelosteogenesis Type I	Platyspondyly, Absent or minimally ossified vertebral bodies, Abnormal ossification involving the...	ORPHA:1190
Free Sialic Acid Storage Disease	Hepatomegaly, Splenomegaly, Ascites	ORPHA:834
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Platyspondyly, Scoliosis	OMIM:618728
Familial Pancreatic Carcinoma	Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg...	ORPHA:1333
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets	OMIM:612089
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu...	ORPHA:77259
Gray Platelet Syndrome	Splenomegaly, Abnormal number of alpha granules, Thrombocytopenia	OMIM:139090
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Anal Fistula	Leukocytosis	ORPHA:228113
Wilson Disease	Hepatitis, Acute hepatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Cirrhosis, Thrombocyto...	ORPHA:905
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thoracolumbar kyphosis, Disc-like vertebral bodies, Decreased cranial base ossification, Short ne...	OMIM:151210
Good Syndrome	Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Anemi...	ORPHA:169105
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Lymphadenopathy, Thrombocyto...	ORPHA:93552
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Hepatosplenomegaly, Hepatomegaly, Lymphadenopathy, Abnormal testi...	ORPHA:85450
Cantú Syndrome	Platyspondyly, Cuboid-shaped vertebral bodies, Short neck, Osteoporosis, Ovoid vertebral bodies	ORPHA:1517
Immunodeficiency 31C	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Impaired lymphocyte transformation with p...	OMIM:614162
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatom...	OMIM:606003
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Neutropenia	OMIM:620443
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Short neck, Severe platyspondyly, Dysplastic sacrum	OMIM:613320
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto...	OMIM:615688
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Co...	ORPHA:83471
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Kyphoscoliosis, Short neck, Thin bony cortex, Osteoporosis, Vertebral compression fracture, Scoli...	OMIM:309583
Pseudodiastrophic Dysplasia	Platyspondyly, Scoliosis	ORPHA:85174
Waldenström Macroglobulinemia	Normocytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Leukemia, Abnormality of neutrophils	ORPHA:33226
Cryoglobulinemic Vasculitis	Abnormality of the liver, Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Viral hepatitis	ORPHA:91138
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Rickets, Osteomalacia, Increased susceptibility to fractures, Sp...	ORPHA:289157
Bent Bone Dysplasia Syndrome 2	Platyspondyly, Osteopenia, Butterfly vertebrae, Decreased calvarial ossification, Short neck, Cor...	OMIM:620076
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Medullary Thyroid Carcinoma	Pheochromocytoma, Abnormal liver parenchyma morphology, Lymphadenopathy, Nodular goiter, Primary ...	ORPHA:1332
Stickler Syndrome, Type Iv	Platyspondyly, Scoliosis, Intervertebral space narrowing, Joint hypermobility	OMIM:614134
Klatskin Tumor	Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome...	OMIM:607765
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Incontinentia Pigmenti	Eosinophilia, Supernumerary nipple	ORPHA:464
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology, Wide anterior fontanel	OMIM:614886
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Thyroid Lymphoma	Lymphadenopathy, Goiter	ORPHA:97285
Stickler Syndrome, Type I	Platyspondyly, Joint stiffness, Spondylolisthesis, Joint hypermobility, Morbus Scheuermann, Beaki...	OMIM:108300
Odontochondrodysplasia	Platyspondyly, Scoliosis, Joint hypermobility	ORPHA:166272
Relapsing Fever	Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia, Jaundice	ORPHA:91547
Prolidase Deficiency	Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:170100
Dental Anomalies And Short Stature	Platyspondyly, Herniation of intervertebral nuclei, Intervertebral space narrowing, Narrow verteb...	OMIM:601216
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Osteopenia, Platyspondyly, Increased vertebral height, Contracture...	OMIM:620662
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Interface hepatitis, Hypoplasia of the th...	OMIM:243150
ERI1-related disease	Platyspondyly, Osteopenia, Increased vertebral height, Limited elbow extension, Finger joint hype...	OMIM:608739
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Splenomegaly, Ascites, Lymphadenopathy	ORPHA:36412
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hilar lymph node enlargement, Cholestasis, Leukocytosis, Hepatomegaly, Mediastinal lymphadenopathy	OMIM:620233
Budd-Chiari Syndrome	Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ...	ORPHA:131
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Platyspondyly, Cuboid-shaped vertebral bodies, Anterior scallopi...	OMIM:611717
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret...	ORPHA:288
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:252920
Graft Versus Host Disease	Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Chronic hepatitis, Acute hepatitis, Jaundice	ORPHA:39812
Dominant Beta-Thalassemia	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231226
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J...	OMIM:607625
Thanatophoric Dysplasia	Platyspondyly, Joint stiffness, Joint hypermobility, Abnormal sacroiliac joint morphology, Kyphosis	ORPHA:2655
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Hemochromatosis, Type 1	Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Cirrhosis, Testicular atrophy, Hepatocellular ...	OMIM:235200
Psoriasis 14, Pustular	Cholangitis, Leukocytosis, Neutrophilia	OMIM:614204
Anaplastic Thyroid Carcinoma	Nodular goiter, Lymphadenopathy, Goiter	ORPHA:142
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb...	ORPHA:729
Thymic Neuroendocrine Tumor	Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio...	ORPHA:97289
Carney Triad	Ascites, Pheochromocytoma, Lymphadenopathy, Anemia, Mediastinal lymphadenopathy	ORPHA:139411
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Exocrine pancreatic insufficiency, ...	OMIM:620005
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,...	ORPHA:906
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia	ORPHA:1302
Typhoid	Hepatomegaly, Splenomegaly	ORPHA:99745
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Ascites, Splenomegaly...	ORPHA:2905
Anauxetic Dysplasia 3	Platyspondyly, Joint hypermobility, Beaking of vertebral bodies, Thoracolumbar kyphoscoliosis, Wi...	OMIM:618853
Selective Igm Deficiency	Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Decreased proport...	ORPHA:331235
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Jaundice	OMIM:618641
Schimke Immunoosseous Dysplasia	Platyspondyly, Osteopenia, Lumbar hyperlordosis, Short neck, Ovoid vertebral bodies, Thoracic kyp...	OMIM:242900
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Splenomegaly	OMIM:618541
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno...	OMIM:602782
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Vertebral wedging, Decreased calvarial ossification	OMIM:617866
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume	OMIM:153670
Familial Thrombocytosis	Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis	ORPHA:71493
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ...	OMIM:613812
Beta-Thalassemia Major	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231214
Trisomy 20P	Platyspondyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Joint hypermobilit...	ORPHA:261318
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease...	OMIM:608233
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Greenberg Dysplasia	Platyspondyly, Fractured rib, Ectopic ossification, Supernumerary vertebral ossification centers,...	OMIM:215140
Tangier Disease	Hepatomegaly, Left ventricular hypertrophy, Splenomegaly	OMIM:205400
Dent Disease	Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,...	ORPHA:1652
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Autoimmune thrombocytopenia	OMIM:607944
Hereditary Chronic Pancreatitis	Pancreatic calcification, Jaundice, Recurrent pancreatitis, Leukocytosis	ORPHA:676
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Right ventricular hypertrophy, Splenomegaly	OMIM:616028
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Platyspondyly, Osteopenia, Increased vertebral height, Limited elbow extension, Finger joint hype...	OMIM:620663
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Neutrophilia, Hepatomegaly	OMIM:249100
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Platyspondyly, Osteopenia, Scoliosis	OMIM:619269
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Spondyloocular Syndrome	Platyspondyly, Osteopenia, Femur fracture, Thin bony cortex, Vertebral compression fracture	OMIM:605822
Thanatophoric Dysplasia Type 2	Platyspondyly, Limitation of joint mobility, Kyphosis, Joint hypermobility	ORPHA:93274
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Platyspondyly, Osteopenia, Thoracic platyspondyly, Limited elbow extension, Kyphoscoliosis, Short...	ORPHA:457395
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple...	OMIM:619418
Tropical Endomyocardial Fibrosis	Ascites, Splenomegaly, Cardiomegaly, Eosinophilia, Hepatomegaly	ORPHA:75565
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Lumbar hyperlordosis, Limited elbow extension, Ovoid vertebral bodies	OMIM:608728
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Platyspondyly, Osteopenia, Atlantoaxial dislocation, Congenital kyphoscoliosis, Tracheomalacia, M...	ORPHA:536467
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Caroli Syndrome	Intrahepatic cholestasis, Hypersplenism, Leukopenia, Leukocytosis, Portal hypertension, Congenita...	ORPHA:480520
Dyggve-Melchior-Clausen Disease	Platyspondyly, Hypoplasia of the odontoid process, Limitation of joint mobility, Lumbar hyperlord...	OMIM:223800
X-Linked Hypophosphatemia	Rickets, Limitation of joint mobility, Sacroiliac joint synovitis, Generalized osteosclerosis, Ar...	ORPHA:89936
Hereditary Orotic Aciduria	Anemia, Splenomegaly	ORPHA:30
Cystinosis	Rickets	ORPHA:213
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly	OMIM:252900
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Limited elbow extension, Osteoarthritis, Irregular scleroti...	OMIM:602111
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Tangier Disease	Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular hypertrophy, Orange d...	ORPHA:31150
Q Fever	Granuloma, Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystitis, ...	ORPHA:781
Poikiloderma With Neutropenia	Leukopenia, Splenomegaly, Neutropenia	OMIM:604173
Kasabach-Merritt Phenomenon	Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Abnormal lymphatic vessel morphol...	ORPHA:2330
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Lymphadenopathy	ORPHA:32960
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,...	OMIM:611881
Czech Dysplasia	Platyspondyly, Limitation of joint mobility, Intervertebral space narrowing, Irregular vertebral ...	OMIM:609162
Mccune-Albright Syndrome	Aneurysmal bone cyst, Osteomalacia, Monostotic fibrous dysplasia, Fibrous dysplasia of the bones,...	ORPHA:562
Congenital Enterovirus Infection	Fetal ascites, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrophage morphology, ...	ORPHA:292
Scheie Syndrome	Hepatomegaly, Splenomegaly	ORPHA:93474
Faciocardiomelic Syndrome	Osteopenia, Thin bony cortex, Cuboid-shaped vertebral bodies	OMIM:612731
H Syndrome	Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Lymphadenopathy, Histiocytosis,...	ORPHA:168569
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hepatitis, Autoimmune hemolytic anemia, Splenomegaly, Iron deficiency anemia, Lymphadenopathy, Ne...	ORPHA:37042
Weill-Marchesani Syndrome 1	Spinal canal stenosis, Joint stiffness, Lumbar hyperlordosis, Thin bony cortex, Scoliosis	OMIM:277600
Gm1-Gangliosidosis, Type I	Hepatomegaly, Vacuolated lymphocytes, Splenomegaly	OMIM:230500
Neuroblastoma	Anemia, Abdominal mass, Lymphadenopathy, Thrombocytopenia	ORPHA:635
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, Neutropenia, B lymphocytopenia	OMIM:601495
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Short neck, Lumbar hyperlordosis, Joint hypermobility	OMIM:612813
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m...	ORPHA:2658
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:259700
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis	OMIM:612301
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Generalized osteoporosis, Osteopenia, Platyspondyly, Elbow flexion contracture, Joint hypermobili...	OMIM:245600
Mcleod Syndrome	Hepatomegaly, Acanthocytosis, Splenomegaly	OMIM:300842
Gm1 Gangliosidosis	Platyspondyly, Coarse metaphyseal trabecularization, Abnormal form of the vertebral bodies, Campt...	ORPHA:354
Congenital Bile Acid Synthesis Defect Type 2	Rickets	ORPHA:79303
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Platyspondyly, Premature osteoarthritis, Lumbar hyperlordosis, Beaking of vertebral bodies, Flexi...	OMIM:215150
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Ex...	OMIM:300972
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly	OMIM:231005
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe...	OMIM:607626
Familial Mediterranean Fever	Ascites, Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, Lymphadenopathy	ORPHA:342
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrhosis, Hepatocellu...	OMIM:251880
Staphylococcal Necrotizing Pneumonia	Leukopenia, Leukocytosis, Neutrophilia	ORPHA:36238
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased response to growth hormone stimulation test, Abnormal lymphocyte morphology, Severe B l...	ORPHA:293978
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia, Jaundice	ORPHA:90051
Fanconi-Bickel Syndrome	Osteopenia, Rickets	ORPHA:2088
Multiple Myeloma	Anemia, Splenomegaly, Lymphadenopathy	ORPHA:29073
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Thanatophoric Dysplasia Type 1	Platyspondyly, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Wide anterior fon...	ORPHA:1860
Neu-Laxova Syndrome	Osteopenia, Rickets, Osteomalacia, Osteoporosis, Flexion contracture, Scoliosis, Arthrogryposis m...	ORPHA:2671
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomega...	OMIM:259720
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon...	OMIM:615512
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly	ORPHA:3035
Farber Disease	Hepatic fibrosis, Ascites, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Intrahepatic ch...	ORPHA:333
Immunodeficiency 17	Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, T lymphocytopenia, Auto...	OMIM:615607
Hall-Riggs Syndrome	Platyspondyly, Joint stiffness, Scoliosis	ORPHA:2107
Congenital Syphilis	Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Pancreatitis, Lymp...	ORPHA:499009
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, B lymphocytopenia, Neutr...	ORPHA:391487
Glycogen Storage Disease Ib	Splenomegaly, Pancreatitis, Pancreatic fibrosis, Neutropenia, Hepatomegaly, Enlarged kidney, Hepa...	OMIM:232220
Pancreatic Triacylglycerol Lipase Deficiency	Osteoporosis, Rickets, Osteomalacia	ORPHA:309031
Autoimmune Hepatitis	Viral hepatitis, Ascites, Splenomegaly, Sclerosing cholangitis, Cirrhosis, Hepatocellular carcino...	ORPHA:2137
Desbuquois Dysplasia 2	Platyspondyly, Lumbar hyperlordosis, Joint hypermobility, Short neck, Advanced ossification of ca...	OMIM:615777
Frank-Ter Haar Syndrome	Osteopenia, Cortical irregularity, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Prom...	OMIM:249420
Ataxia-Telangiectasia	Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho...	OMIM:208900
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia	OMIM:608885
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Combined Oxidative Phosphorylation Deficiency 47	Platyspondyly, Short neck	OMIM:618958
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso...	OMIM:618278
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Brucellosis	Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Abnormality of the liver, Orchi...	ORPHA:1304
Hennekam Syndrome	Ascites, Lymphopenia, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia, Lymphangioma	ORPHA:2136
Mucopolysaccharidosis, Type Vii	Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Limitation of joint mo...	OMIM:253220
Dyggve-Melchior-Clausen Disease	Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Abnormality of the v...	ORPHA:239
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia	OMIM:600740
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Hepatitis, Decreased proportion of naive T cells, Splenomegaly...	OMIM:619381
Hyperparathyroidism, Neonatal Severe	Anemia, Hepatomegaly, Splenomegaly, Primary hyperparathyroidism	OMIM:239200
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Parotitis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increas...	OMIM:620376
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Reynolds Syndrome	Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Hepatomegaly, Jaundice	OMIM:613471
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Wide anterior fontanel	OMIM:601356
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal vertebral morphology, Osteopenia, Platyspondyly, Congenital kyphoscoliosis, Elbow flexio...	ORPHA:536471
Smith-Mccort Dysplasia 2	Platyspondyly, Hypoplasia of the odontoid process, Limited elbow extension, Short neck, Hyperlord...	OMIM:615222
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Platyspondyly, Hypoplasia of the odontoid process, Kyphoscoliosis, Short neck, Flexion contractur...	OMIM:300232
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Cutaneous abscess, Recurrent cutaneous abscess formation, Increased hepatic echogen...	OMIM:147060
Proteus-Like Syndrome	Abnormality of the parathyroid gland, Thymus hyperplasia, Splenomegaly, Polycystic ovaries	ORPHA:2969
Aspartylglucosaminuria	Abnormal vertebral morphology, Joint stiffness, Abnormal cortical bone morphology, Beaking of ver...	ORPHA:93
Oculodentodigital Dysplasia	Abnormal form of the vertebral bodies, Cranial hyperostosis, Camptodactyly of finger, Abnormal co...	ORPHA:2710
Geleophysic Dysplasia 1	Platyspondyly, Osteopenia, Joint contracture of the hand, Camptodactyly of finger, Joint stiffnes...	OMIM:231050
Hyperlipoproteinemia, Type Id	Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly	OMIM:615947
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Cholestasis, Splenomegaly, Hepatic steatosis, Polycystic ovari...	ORPHA:264580
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Platyspondyly, Carpal synostosis, Pathologic fracture, Joint hypermobility, Kyphoscoliosis, Short...	OMIM:271640
Periodic Fever, Familial, Autosomal Dominant	Cervical lymphadenopathy, Hepatomegaly, Hepatic amyloidosis	OMIM:142680
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Aplasia of the...	OMIM:618223
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Decreased testicular size, Splenomegaly	OMIM:201100
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Kyphosis, Fractures of the long bones, Abnormal form of the verteb...	ORPHA:666
Gaucher Disease, Type Ii	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:230900
Carcinoid Syndrome	Hepatic necrosis, Chronic noninfectious lymphadenopathy	ORPHA:100093
Lysinuric Protein Intolerance	Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia	OMIM:222700
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Decreased response to growth hormone stimulation test, Abnormal T cell count, Absent circulating ...	OMIM:307200
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Sclerosis of skull base, Increased intervertebral space, Thin bony cortex	OMIM:619727
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Portal hypertension, Splenomegaly, Hepatic steatosis, Biliary h...	ORPHA:567983
Alpha-Mannosidosis, Infantile Form	Platyspondyly, Osteopenia, Cranial hyperostosis, Joint stiffness, Joint hypermobility, Short neck...	ORPHA:309282
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Splenomegaly, Polycystic ovaries, Hepatomegaly, Cirrhosis, Anemia, Hepatocellul...	ORPHA:79240
Isolated Biliary Atresia	Periportal fibrosis, Hypopituitarism, Cholestasis, Atretic gallbladder, Splenomegaly, Prolonged n...	ORPHA:30391
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Increased bone mineral density, Platyspondyly	ORPHA:50945
Schwartz-Jampel Syndrome	Spinal rigidity, Platyspondyly, Shoulder flexion contracture, Kyphosis, Joint stiffness, Hip cont...	ORPHA:800
Celiac Disease, Susceptibility To, 1	Osteoporosis, Rickets	OMIM:212750
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hepatome...	OMIM:263200
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Platyspondyly, Osteopenia, Progressive congenital scoliosis, Joint hypermobility, Kyphoscoliosis,...	OMIM:225400
Occipital Horn Syndrome	Synostosis of joints, Osteopenia, Platyspondyly, Rickets, Kyphosis, Osteomalacia, Joint hypermobi...	ORPHA:198
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Lymphopenia, Pheochromocytoma, Neoplas...	ORPHA:99889
Lowry-Wood Syndrome	Platyspondyly, Joint stiffness	ORPHA:1824
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Limited elbow extension, Knee flex...	OMIM:618019
Fanconi-Bickel Syndrome	Rickets, Osteomalacia	OMIM:227810
Mucopolysaccharidosis Type 7	Ascites, Hepatitis, Splenomegaly	ORPHA:584
Cushing Disease	Lymphopenia, Leukocytosis, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Decreased e...	ORPHA:96253
Familial Tumoral Calcinosis	Hepatomegaly, Splenomegaly	ORPHA:53715
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Vacuolated lymphocytes, Pancreatitis, Splenomegaly	ORPHA:565612
Distal Renal Tubular Acidosis	Reduced bone mineral density, Rickets, Increased susceptibility to fractures, Osteomalacia	ORPHA:18
Brachyolmia Type 3	Platyspondyly, Short neck, Scoliosis, Kyphosis	OMIM:113500
Spondyloperipheral Dysplasia	Platyspondyly, Limited elbow extension, Short neck, Kyphosis, Ovoid vertebral bodies, Irregular v...	OMIM:271700
Metaphyseal Chondrodysplasia, Schmid Type	Platyspondyly, Lumbar hyperlordosis, Scoliosis, Irregular vertebral endplates	OMIM:156500
Occipital Horn Syndrome	Platyspondyly, Limited elbow extension, Joint hypermobility, Limited knee extension, Capitate-ham...	OMIM:304150
Syndromic Diarrhea	Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Splenomegaly, Hypoplasia of the thymus, ...	ORPHA:84064
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy	ORPHA:100075
Osteoglophonic Dysplasia	Platyspondyly, Osteopenia, Camptodactyly of finger, Increased susceptibility to fractures, Short ...	OMIM:166250
Weill-Marchesani Syndrome 2	Spinal canal stenosis, Elbow flexion contracture, Joint stiffness, Lumbar hyperlordosis, Thin bon...	OMIM:608328
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Joint contracture of the hand, Rickets, Camptodactyly of finger, Pathologic fractu...	OMIM:309000
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Reduced bone mineral density, Increased suscepti...	ORPHA:2909
Immunodeficiency 87 And Autoimmunity	Cervical lymphadenopathy, Lymphopenia, Decreased CD4:CD8 ratio, Cholestasis, Ascites, Autoimmune ...	OMIM:619573
Fibrochondrogenesis 1	Platyspondyly, Joint contracture of the hand, Short neck, Camptodactyly, Posterior vertebral hypo...	OMIM:228520
Sillence Syndrome	Platyspondyly, Abnormal vertebral morphology, Intervertebral disk degeneration, Camptodactyly, Sc...	ORPHA:3168
Pyomyositis	Testicular teratoma, Leukocytosis, Recurrent cutaneous abscess formation	ORPHA:764
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Pancreatic hypoplasia, Hepatitis, Cholestasis, Portal hypertension, Splenomegal...	OMIM:610199
Rhizomelic Dysplasia, Patterson-Lowry Type	Platyspondyly	OMIM:601438
Sweet Syndrome	Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Sterile abscess, Neutrophilia, ...	ORPHA:3243
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis	ORPHA:100078
Urachal Cyst	Abdominal mass, Peritonitis, Leukocytosis, Abscess	ORPHA:488
Achondroplasia	Lumbar hyperlordosis, Limited elbow extension, Generalized joint hypermobility, Narrow vertebral ...	OMIM:100800
Lethal Kniest-Like Dysplasia	Platyspondyly, Hypoplastic vertebral bodies, Short neck, Coronal cleft vertebrae, Wide anterior f...	ORPHA:2347
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte...	ORPHA:100086
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly	OMIM:612918
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Polycythemia, Micronodular cirrhosis, Abnormality of the liver, Portal hypertension, Splenomegaly...	ORPHA:309854
Crimean-Congo Hemorrhagic Fever	Parotitis, Ascites, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Cholecystitis, Orchitis...	ORPHA:99827
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia	ORPHA:536
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Rickets, Joint hypermobility, Thin bony cortex, Scoliosis, Reduced bone mineral density	OMIM:613658
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Primary Sjögren Syndrome	Normocytic anemia, Biliary cirrhosis, Parotitis, Chronic active hepatitis, Lymphopenia, Leukopeni...	ORPHA:289390
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Primary Hepatic Neuroendocrine Carcinoma	Ascites, Chronic noninfectious lymphadenopathy, Hepatic cysts, Intermittent jaundice, Biliary tra...	ORPHA:100085
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Hepatic steatosis, Chronic pancreatitis, Splenomegaly	OMIM:610717
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Abnormal ...	ORPHA:221139
Porphyria, Congenital Erythropoietic	Cholelithiasis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Reduced erythrocyte uroporphyrinoge...	OMIM:263700
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R...	ORPHA:99826
Autosomal Recessive Malignant Osteopetrosis	Anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:667
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Platyspondyly, Joint hypermobility, Short neck, Advanced ossification of carpal bones, Posterior ...	OMIM:610442
Aicardi-Goutieres Syndrome 7	Hepatitis, Pancytopenia, Splenomegaly, Hepatic steatosis, Hepatomegaly, Generalized lymphadenopat...	OMIM:615846
Rothmund-Thomson Syndrome Type 2	Abnormal trabecular bone morphology, Osteopenia, Pathologic fracture, Synostosis involving bones ...	ORPHA:221016
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Elbow flexion contra...	OMIM:271665
Pearson Syndrome	Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Exocrine panc...	ORPHA:699
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	ORPHA:77261
Mucopolysaccharidosis, Type X	Platyspondyly, Beaking of vertebral bodies, Hyperlordosis, Scoliosis, Posterior scalloping of ver...	OMIM:619698
Down Syndrome	Polycythemia, Acute megakaryocytic leukemia, Abnormality of the lymphatic system, Thrombocytopeni...	ORPHA:870
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormality of the submandibular glands, Enlargement of parotid gland, ...	ORPHA:79078
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Platyspondyly, Joint stiffness, Severe platyspondyly, Scoliosis, Ovoid vertebral bodies	OMIM:608940
Myhre Syndrome	Platyspondyly, Craniofacial hyperostosis, Joint stiffness	ORPHA:2588
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Rickets, Abnormal form of the vertebral bodies, Osteomalacia, Short neck, Osteoporosi...	ORPHA:2636
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Hepatomegaly, ...	OMIM:181000
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Familial Hypocalciuric Hypercalcemia	Osteomalacia	ORPHA:405
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100082
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Pancreatic hypoplasia, Cryptorchidism, Biliary hyperplasia, Hepatomegaly, B lymph...	ORPHA:83617
Autosomal Recessive Polycystic Kidney Disease	Hepatic fibrosis, Periportal fibrosis, Cholestasis, Ascites, Hepatosplenomegaly, Hypersplenism, P...	ORPHA:731
Saul-Wilson Syndrome	Platyspondyly, Hypoplasia of the odontoid process, Wide anterior fontanel, Irregular vertebral en...	OMIM:618150
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Increased susceptibility to fractures, Osteomalacia	ORPHA:3337
Thanatophoric Dysplasia, Type I	Platyspondyly, Short neck, Severe platyspondyly	OMIM:187600
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Osteopenia, Finger symphalangism	ORPHA:221008
Fibrochondrogenesis 2	Platyspondyly	OMIM:614524
Spondylometaphyseal Dysplasia, Schmidt Type	Platyspondyly, Scoliosis, Abnormality of the vertebral column, Kyphoscoliosis	ORPHA:93316
Tyrosinemia, Type I	Ascites, Splenomegaly, Pancreatic islet-cell hyperplasia, Hepatomegaly, Cirrhosis, Anemia, Enlarg...	OMIM:276700
Sponastrime Dysplasia	Delayed epiphyseal ossification, Platyspondyly, Abnormality of the vertebral column, Lumbar hyper...	ORPHA:93357
Kawasaki Disease	Hepatitis, Cervical lymphadenopathy, Leukocytosis, Cholecystitis, Thrombocytosis, Jaundice	ORPHA:2331
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Hepatomegaly, Splenomegaly	OMIM:612132
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Lumbar hyperlordosis, Kyphosis, Wide anterior fontanel	OMIM:616482
Spondyloenchondrodysplasia	Juvenile rheumatoid arthritis, Platyspondyly, Kyphosis, Arthritis	ORPHA:1855
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, B lymphocytopenia	OMIM:251260
Stickler Syndrome	Platyspondyly, Abnormal form of the vertebral bodies, Spinal canal stenosis, Spondylolisthesis, J...	ORPHA:828
Thanatophoric Dysplasia, Type Ii	Platyspondyly	OMIM:187601
Primary Sclerosing Cholangitis	Hepatic fibrosis, Cholelithiasis, Hepatitis, Cholestasis, Ascites, Hepatosplenomegaly, Portal hyp...	ORPHA:171
Garg-Mishra Progeroid Syndrome	Platyspondyly, Ovoid vertebral bodies	OMIM:620601
Viss Syndrome	Hypereosinophilia, Right ventricular hypertrophy	OMIM:619472
Schimke Immuno-Osseous Dysplasia	Platyspondyly, Short neck, Lumbar hyperlordosis, Ovoid vertebral bodies	ORPHA:1830
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Short neck, Platyspondyly	OMIM:250220
Blau Syndrome	Abnormality of the liver, Splenomegaly, Lymphadenopathy, Anemia, Abnormal salivary gland morphology	ORPHA:90340
Spondyloepimetaphyseal Dysplasia, X-Linked	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Limited elbow extension,...	OMIM:300106
Alg12-Cdg	Cryptorchidism, Thrombocytopenia, B lymphocytopenia	ORPHA:79324
Leukocyte Adhesion Deficiency Type Ii	Microcytic anemia, Leukocytosis, Anemia, Neutrophilia, Hepatomegaly	ORPHA:99843
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,...	ORPHA:79277
Acromesomelic Dysplasia 4	Platyspondyly, Thoracic platyspondyly, Lumbar hyperlordosis, Thoracic scoliosis, Beaking of verte...	OMIM:619636
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hypersplenism, Splenomegaly, Hepatomegaly, Neoplasm of the liver, Cirrhosis, Thro...	ORPHA:77293
Leptospirosis	Hepatitis, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice	ORPHA:509
Proteasome-Associated Autoinflammatory Syndrome 1	Parotitis, Microcytic anemia, Splenomegaly, Cardiomegaly, Lymphadenopathy, Thrombocytopenia, Hepa...	OMIM:256040
Oculocerebrorenal Syndrome Of Lowe	Platyspondyly, Kyphosis, Osteomalacia, Joint stiffness, Joint hypermobility, Arthritis, Scoliosis...	ORPHA:534
Lymphangioleiomyomatosis	Ascites, Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic system	ORPHA:538
Behçet Disease	Orchitis, Pancreatitis, Splenomegaly, Lymphadenopathy	ORPHA:117
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Platyspondyly	ORPHA:163966
Platyspondylic Dysplasia, Torrance Type	Platyspondyly	ORPHA:85166
Marshall Syndrome	Knee osteoarthritis, Platyspondyly	OMIM:154780
Atelosteogenesis, Type I	Thoracic platyspondyly, Short neck, Fused cervical vertebrae, Coronal cleft vertebrae, Vertebral ...	OMIM:108720
Wilson Disease	Joint hypermobility, Osteoporosis, Osteoarthritis, Osteomalacia	OMIM:277900
Aspartylglucosaminuria	Platyspondyly, Spondylolysis, Pathologic fracture, Spondylolisthesis, Joint hypermobility, Beakin...	OMIM:208400
Gm1 Gangliosidosis Type 1	Platyspondyly, Beaking of vertebral bodies T12-L3, Hypoplastic vertebral bodies	ORPHA:79255
Kyphomelic Dysplasia	Platyspondyly, Limitation of joint mobility	OMIM:211350
Myhre Syndrome	Platyspondyly, Limitation of joint mobility, Joint stiffness, Enlarged vertebral pedicles, Short ...	OMIM:139210
Malakoplakia	Follicular hyperplasia, Orchitis	ORPHA:556
Otopalatodigital Syndrome, Type Ii	Platyspondyly, Spondylolysis, Elbow contracture, Sclerosis of skull base, Kyphoscoliosis, Short n...	OMIM:304120
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Platyspondyly, Shoulder flexion contracture, Elbow flexion contr...	OMIM:210710
Opsismodysplasia	Hypoplasia of the odontoid process, Hypoplastic vertebral bodies, Short neck, Severe platyspondyl...	OMIM:258480
Neuroendocrine Neoplasm Of Appendix	Adrenocorticotropic hormone excess, Hepatomegaly, Ovarian neoplasm, Chronic noninfectious lymphad...	ORPHA:100079
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Platyspondyly, Scoliosis, Ovoid vertebral bodies	ORPHA:85167
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis	OMIM:184253
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Platyspondyly, Multiple joint contractures, Lumbar scoliosis, Short neck, Abnormal bone ossificat...	ORPHA:99646
Cystinosis, Nephropathic	Hypophosphatemic rickets, Rickets	OMIM:219800
Fontaine Progeroid Syndrome	Platyspondyly, Coronal craniosynostosis, Craniosynostosis, Scoliosis, Wide anterior fontanel	OMIM:612289
Dermatomyositis	Abnormal eosinophil morphology	ORPHA:221
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly	OMIM:601374
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Cervical lymphadenopathy, Pheochromocytoma, Neoplasm of the liver, Pa...	ORPHA:653
Yellow Fever	Pancreatic hyperplasia, Leukocytosis, Thrombocytopenia, Neutrophilia, Jaundice, Acute pancreatitis	ORPHA:99829
Plague	Hepatomegaly, Enlarged mesenteric lymph node, Lymphadenitis, Splenomegaly	ORPHA:707
African Trypanosomiasis	Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Abnormal prolactin level, Hepatomegaly, Jaundice	ORPHA:3385
Hypomagnesemia 3, Renal	Rickets	OMIM:248250
Generalized Arterial Calcification Of Infancy	Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Fused cervical vertebrae, O...	ORPHA:51608
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Platyspondyly, Abnormality of the vertebral column, Camptodactyly ...	ORPHA:2273
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly	OMIM:263520
Pmm2-Cdg	Platyspondyly, Osteopenia, Multiple joint contractures, Kyphoscoliosis, Joint hypermobility, Oste...	ORPHA:79318
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly	ORPHA:93317

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Fzd9

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fzd9.

No publications found that use IMPC mice or data for Fzd9.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Fzd9^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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