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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 cortical bone morphology, Abnormal form of the vertebral bodie...	ORPHA:2777
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Kimura Disease	Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	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, Monocytosis, Neutropenia	OMIM:613107
Melorheostosis With Osteopoikilosis	Abnormal cortical bone morphology, Osteopoikilosis	ORPHA:1879
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	OMIM:131400
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Bone marrow hypocellularity, Leukopenia, Monocytosis	OMIM:616871
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Immunodeficiency 88	Eosinophilia	OMIM:619630
Immunodeficiency 84	B lymphocytopenia, Splenomegaly, Perianal abscess	OMIM:619437
Gnathodiaphyseal Dysplasia	Osteopenia, Scoliosis, Thickened cortex of long bones, Mandibular osteomyelitis, 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	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Endosteal Hyperostosis, Worth Type	Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bone morphology, Craniofacial h...	ORPHA:2790
Acute Myelomonocytic Leukemia	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	ORPHA:517
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	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	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology	ORPHA:3416
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple...	OMIM:602450
Osteopenia And Sparse Hair	Osteopenia, Joint hypermobility	OMIM:259690
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis	OMIM:619281
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Platyspondyly, Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:617974
Osteomesopyknosis	Increased bone mineral density, Low back pain	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, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Generalized Eruptive Histiocytosis	Hypereosinophilia, Histiocytosis, Leukemia	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	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Immunodeficiency 15B	Monocytosis, Reduced natural killer cell count	OMIM:615592
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count	ORPHA:100024
Brachyolmia Type 1, Hobaek Type	Osteopenia, Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Scoli...	OMIM:271530
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Immunodeficiency 53	Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:617585
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Neutrophilia, Hepatosplenomegaly, Thrombocytopen...	OMIM:619644
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly...	ORPHA:39041
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615269
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Abscess, Splenomegaly, Intermittent thrombocytopenia, Abnorma...	OMIM:150550
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Adult Idiopathic Neutropenia	Monocytopenia, Monocytosis, Neutropenia, Lymphopenia	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	Abnormal bone ossification, Abnormal form of the vertebral bodies, Abnormal pelvis bone ossificat...	ORPHA:1426
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Abnormal natural killer cell count, Decreased proporti...	ORPHA:331206
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Osteoporosis	Osteoporosis	OMIM:166710
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Ghosal Hematodiaphyseal Dysplasia	Abnormal cortical bone morphology, Craniofacial hyperostosis, Abnormal form of the vertebral bodies	ORPHA:1802
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Hepatosplenomegaly, Hepatic cysts, Eosinophilic liver infiltration	OMIM:618999
Osteogenesis Imperfecta, Type V	Osteopenia, Platyspondyly, Vertebral wedging, Hyperextensibility of the finger joints, Hyperexten...	OMIM:610967
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Brachyolmia Type 1, Toledo Type	Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Precocious costo...	OMIM:271630
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count	OMIM:613495
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Osteoarthritis of the elbow, Hip osteoarthritis, Knee osteoarthritis, Limitation of j...	ORPHA:2619
Roifman Syndrome	Eosinophilia, Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:616651
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Osteochondrosis Of The Metatarsal Bone	Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones	ORPHA:564003
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Abnormal cortical bone morphology, Hyperlordosis, Foot acroosteolys...	ORPHA:970
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he...	ORPHA:543
Metatropic Dysplasia	Abnormal cortical bone morphology, Abnormal intervertebral disk morphology, Abnormal form of the ...	ORPHA:2635
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Sclerosteosis	Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis	ORPHA:3152
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Scoliosis, Platyspondyly, Thin bony cortex	OMIM:265900
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Hip Dysplasia, Beukes Type	Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Kyphosis, Osteoarthri...	ORPHA:2114
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphopenia, Eosinophilia, Hepa...	ORPHA:169160
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	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	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Kyphosis, Osteoporosis	ORPHA:2786
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Epiphyseal Dysplasia, Multiple, 7	Vertebral wedging, Advanced ossification of carpal bones, Platyspondyly	OMIM:617719
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Reticular Dysgenesis	Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Abnormal B cell morphology	OMIM:616911
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia	OMIM:618310
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis, Sclerotic vertebral endplates	OMIM:615198
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,...	ORPHA:486
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Wells Syndrome	Eosinophilia	ORPHA:901
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Eosinophilia	OMIM:618092
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Familial Expansile Osteolysis	Pathologic fracture, Thin bony cortex, Osteolysis	OMIM:174810
Bruck Syndrome 1	Ankle flexion contracture, Platyspondyly, Vertebral wedging, Scoliosis, Elbow flexion contracture...	OMIM:259450
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Gnathodiaphyseal Dysplasia	Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures	OMIM:166260
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Tooth absce...	ORPHA:2686
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Osteoarthritis With Mild Chondrodysplasia	Beaking of vertebral bodies, Hip osteoarthritis, Knee osteoarthritis, Joint stiffness, Irregular ...	OMIM:604864
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease...	OMIM:615559
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome...	OMIM:615952
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Hypophosphatemic Rickets, Autosomal Recessive, 1	Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density	OMIM:241520
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Osteogenesis Imperfecta, Type Ix	Scoliosis, Kyphosis, Decreased calvarial ossification, Multiple prenatal fractures, Platyspondyly...	OMIM:259440
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Abnor...	ORPHA:54251
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Reduced bone mineral density, Recurrent fractures, Severe platyspondyly	OMIM:620639
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Caffey Disease	Subperiosteal bone formation, Calvarial hyperostosis, Cortical irregularity, Periosteal thickenin...	OMIM:114000
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Pathologic fracture, Limitation of joint mobility, Abnormal cortical bone morphology	ORPHA:166277
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Intervertebral space narrowing, Scoliosis, Thoracic kyphosis, Decreased hip abduction, Irregular ...	OMIM:609223
Immunodeficiency 68	Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess	OMIM:612260
Osteogenesis Imperfecta, Type Xxii	Reduced bone mineral density, Multiple small vertebral fractures, Multiple prenatal fractures, Re...	OMIM:619795
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Hyperextensibility of the finger joints, Kyphosis, Thoracolumbar scoliosis, Hip co...	OMIM:313420
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Scoliosis, Osteoporosis, Platyspondyly, Recurrent fractures	OMIM:126550
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Caffey Disease	Scoliosis, Calvarial hyperostosis, Periosteal thickening of long tubular bones, Cortical irregula...	ORPHA:1310
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Bruck Syndrome	Scoliosis, Osteoporosis, Kyphosis, Joint stiffness, Platyspondyly, Arthrogryposis multiplex conge...	ORPHA:2771
Immunodeficiency 50	Neutropenia, Lymphopenia	OMIM:300988
Combined Cellular And Humoral Immune Defects With Granulomas	B lymphocytopenia, T lymphocytopenia	OMIM:233650
Eiken Syndrome	Abnormal bone ossification, Delayed epiphyseal ossification, Abnormal trabecular bone morphology,...	ORPHA:79106
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Hemophagocytic Lymphohistiocytosis, Familial, 3	Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly	OMIM:608898
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Sclerotic vertebral body, Metacarpal diaphyseal endosteal sclerosis, Hypero...	OMIM:144750
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Platyspondyly, Osteoporosis	ORPHA:71267
Spondyloepiphyseal Dysplasia, Stanescu Type	Kyphoscoliosis, Beaking of vertebral bodies, Stiff neck, Vertebral wedging, Joint stiffness, Plat...	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	Autoimmune hemolytic anemia, Hepatomegaly, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune t...	OMIM:620565
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hypereosinophilia, Hepatomegaly, Splenomegaly	OMIM:617388
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Ck Syndrome	Abnormal cortical bone morphology, Scoliosis, Hyperlordosis, Kyphosis, Joint hypermobility	OMIM:300831
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia	OMIM:618523
Osteopetrosis, Autosomal Dominant 1	Osteopetrosis, Calvarial osteosclerosis, Abnormality of the vertebral column, Thickened cortex of...	OMIM:607634
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Hypophosphatasia, Adult	Rickets, Pathologic fracture, Osteomalacia, Recurrent fractures, Increased susceptibility to frac...	OMIM:146300
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Splenic cyst, Abnormal peritoneum morphology, ...	ORPHA:400
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphocytosis, Eosinophilia, 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	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy...	OMIM:102700
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Abnormal form of the vertebral bodies, Limitation of joint mob...	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	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti...	OMIM:617237
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Restricted large joint movement, Abnormal vertebral morphology	ORPHA:163665
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ...	ORPHA:507
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Neutropenia, Absent circulating B cells	OMIM:613501
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell...	OMIM:312863
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi...	OMIM:600785
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Bruck Syndrome 2	Osteopenia, Elbow flexion contracture, Flexion contracture, Knee flexion contracture, Platyspondy...	OMIM:609220
Immunodeficiency 11A	Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells	OMIM:615206
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorch...	OMIM:612541
Eosinophilic Gastroenteritis	Eosinophilia, Ascites, Anemia, Leukocytosis	ORPHA:2070
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia	OMIM:610163
Spondyloepiphyseal Dysplasia Tarda	Kyphoscoliosis, Limited elbow movement, Abnormally ossified vertebrae, Abnormal epiphyseal ossifi...	ORPHA:93284
Hall-Riggs Syndrome	Scoliosis, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly	OMIM:234250
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Abnormal bone ossification, Coarse metaphyseal trabecularization, Epiphyseal stippling	ORPHA:1952
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses	OMIM:166740
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Immunodeficiency 112	Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell...	OMIM:620449
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Second Metatarsal-Metacarpal Syndrome	Synostosis of carpals/tarsals, Platyspondyly	OMIM:269630
Cranio-Osteoarthropathy	Joint stiffness, Arthritis, Abnormal cortical bone morphology, Osteoarthritis	ORPHA:1525
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Geroderma Osteodysplastica	Beaking of vertebral bodies, Abnormal bone ossification, Platyspondyly, Vertebral compression fra...	ORPHA:2078
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Immunodeficiency 15A	Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr...	OMIM:618204
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Intermediate Osteopetrosis	Sandwich appearance of vertebral bodies, Abnormality of bone mineral density, Recurrent fractures...	ORPHA:210110
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L...	OMIM:615615
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphyseal trabecularization, ...	ORPHA:1782
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ...	OMIM:619313
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al...	OMIM:619824
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Gran...	OMIM:618935
Gorham-Stout Disease	Osteopenia, Abnormal bone ossification, Osteolysis involving bones of the lower limbs, Osteolysis...	ORPHA:73
Pseudoachondroplasia	Limited elbow extension, Beaking of vertebral bodies, Platyspondyly, Delayed epiphyseal ossificat...	ORPHA:750
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Specific Granule Deficiency 1	Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida...	OMIM:245480
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Proteus Syndrome	Kyphoscoliosis, Calvarial hyperostosis, Mandibular hyperostosis, Spinal canal stenosis, Facial hy...	OMIM:176920
Hypophosphatemic Bone Disease	Rickets, Osteomalacia	OMIM:146350
Progressive Pseudorheumatoid Dysplasia	Kyphoscoliosis, Osteoporosis, Joint stiffness, Camptodactyly of finger, Decreased cervical spine ...	OMIM:208230
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Spondyloepiphyseal Dysplasia, Maroteaux Type	Kyphoscoliosis, Generalized osteoporosis, Atlantoaxial instability, Platyspondyly, Short neck, Sm...	OMIM:184095
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Platyspondyly, Flexion contracture	ORPHA:157965
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia	ORPHA:56425
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Thrombocytopenia, Cardiomegaly	ORPHA:858
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly	OMIM:614480
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,...	OMIM:609813
Hypophosphatemic Rickets, Autosomal Dominant	Rickets, Osteomalacia, Hypophosphatemic rickets	OMIM:193100
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Ovoid vertebral bodies, Osteoporotic tarsals	OMIM:609052
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Leukocytosis	ORPHA:2902
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Aggressive Systemic Mastocytosis	Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Po...	ORPHA:98850
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:443811
Immunodeficiency 62	B lymphocytopenia, Autoimmune thrombocytopenia, Increased proportion of transitional B cells, Dec...	OMIM:618459
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Leukocytosis, Acute myeloid leukemia	ORPHA:98827
Osteogenesis Imperfecta, Type Xviii	Vertebral compression fracture, Generalized osteoporosis, Biconcave vertebral bodies, Joint hyper...	OMIM:617952
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Fractures of the long bones, Platyspondyly, Osteoporosis	ORPHA:319195
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Galactosemia Iii	Jaundice, Splenomegaly, Hepatomegaly	OMIM:230350
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Abnormal vertebral morphology, Cervical instability, Delayed oss...	ORPHA:93346
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia	ORPHA:70592
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis	OMIM:300635
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Ollier Disease	Joint stiffness, Platyspondyly, Osteolysis	ORPHA:296
Idiopathic Juvenile Osteoporosis	Vertebral compression fracture, Kyphosis, Recurrent fractures, Osteoporosis	ORPHA:85193
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq...	ORPHA:98826
Hypocalcemic Vitamin D-Resistant Rickets	Abnormal form of the vertebral bodies, Bone cyst, Scoliosis, Abnormal bone structure, Coarse meta...	ORPHA:93160
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Scoliosis, Osteoporosis, Joint hypermobility, Recurrent fractures	OMIM:619131
Alveolar Echinococcosis	Jaundice, Anemia, Cholangitis, Liver abscess, Abnormal spleen morphology, Biliary cirrhosis, Port...	ORPHA:284
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Orchitis, ...	ORPHA:2035
Hereditary Folate Malabsorption	Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	ORPHA:90045
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc...	OMIM:618048
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Thoracic kyphosis, Thin bony cortex	OMIM:619638
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Cutaneous abscess, Sterile abscess	OMIM:618282
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	OMIM:620010
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno...	ORPHA:381
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615270
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Immunodeficiency, Common Variable, 13	B lymphocytopenia, Acute lymphoblastic leukemia, Pancytopenia	OMIM:616873
Spondyloepimetaphyseal Dysplasia, Shohat Type	Squared-off platyspondyly, Abnormal vertebral morphology, Generalized bone demineralization, Plat...	ORPHA:93352
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Scoliosis, Recurrent fractures, Increased susceptibility to fractures	OMIM:615066
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hepatic fibrosis	OMIM:613313
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Progressive Pseudorheumatoid Arthropathy Of Childhood	Beaking of vertebral bodies, Hyperconvex vertebral body endplates, Vertebral wedging, Scoliosis, ...	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	Hepatomegaly, Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, De...	OMIM:301082
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Abnormal B cell count, Decreased proportion of class-switched memory B cells	OMIM:613493
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Hydrocele testis, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neut...	OMIM:616738
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Agammaglobulinemia 7, Autosomal Recessive	Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia	OMIM:615214
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Osteopetrosis, Autosomal Dominant 2	Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ...	OMIM:166600
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Absent circulating B cells	OMIM:613500
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Leukopenia, Splenomegaly, Lymphopenia	OMIM:620210
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormal bone ossification, Increased bone mineral density, Wide anterior fontanel, Thoracic kyph...	ORPHA:163649
Metatropic Dysplasia	Kyphoscoliosis, Caudal appendage, Relatively short spine, Scoliosis, Long coccyx, Abnormal enchon...	OMIM:156530
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Macrophage Activation Syndrome	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro...	ORPHA:158061
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Cervical lymph...	ORPHA:514
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged...	OMIM:257200
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Cholangitis, Abnormal pancreas morp...	ORPHA:449432
Heme Oxygenase 1 Deficiency	Hepatomegaly, Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Cervic...	OMIM:614034
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Thrombocytosis	ORPHA:3318
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Limited elbow extension, Delayed pubic bone ossification, Ovoid vertebral bodies, Platyspondyly, ...	ORPHA:1856
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Scoliosis, Kyphosis, Biconcave flattened vertebrae, Bowing of limbs...	OMIM:166220
Dysspondyloenchondromatosis	Kyphoscoliosis, Scoliosis, Vertebral segmentation defect, Anisospondyly, Osteoarthritis, Platyspo...	ORPHA:85198
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ...	ORPHA:79301
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia	OMIM:179830
Weismann-Netter Syndrome	Scoliosis, Abnormal cortical bone morphology, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3344
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Aspergillosis	Eosinophilia, Hepatitis, Neutropenia	ORPHA:1163
Silver-Russell Syndrome Due To 11P15 Microduplication	Postnatal growth retardation, Severe intrauterine growth retardation, Short stature, Failure to t...	ORPHA:231144
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ...	OMIM:613179
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myeloproliferati...	ORPHA:3260
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:610333
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Babesiosis	Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia	ORPHA:108
Geroderma Osteodysplasticum	Osteopenia, Kyphoscoliosis, Beaking of vertebral bodies, Vertebral compression fracture, Hyperext...	OMIM:231070
Immunodeficiency 23	Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia	OMIM:615816
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia	OMIM:618394
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Sclerosing cholangitis, Cutaneous abscess, Decreased proportion of CD4-positive helper T cells, E...	OMIM:243700
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal...	ORPHA:1451
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Loeffler Endocarditis	Eosinophilia, Left ventricular hypertrophy	ORPHA:75566
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Osteogenesis Imperfecta, Type Viii	Osteopenia, Platyspondyly, Vertebral compression fracture, Wide anterior fontanel, Scoliosis, Dec...	OMIM:610915
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Spondyloepimetaphyseal Dysplasia, Irapa Type	Limitation of joint mobility, Synostosis of carpal bones, Osteoporosis, Osteoarthritis, Platyspon...	ORPHA:93351
Florid Cemento-Osseous Dysplasia	Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi...	ORPHA:83451
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Igg4-Related Pachymeningitis	Eosinophilia, Parotitis, Pancreatitis, Lymphadenitis	ORPHA:449427
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis	OMIM:619658
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip osteoarthritis, Abnormal intervertebral disk morphology, Abnormality of the vertebral column,...	ORPHA:99642
Boutonneuse Fever	Thrombocytopenia, Leukopenia, Lymphadenopathy, Cervical lymphadenopathy	ORPHA:83313
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Beaking of vertebral bodies, Scoliosis, Delayed ossification of carpal bones, Distal ulnar epiphy...	OMIM:609616
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, T lymphocytopenia, Decreased proportion of memory T cells, S...	OMIM:620632
Harderoporphyria	Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia	OMIM:618892
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Spondyloepimetaphyseal Dysplasia, Shohat Type	Platyspondyly, Vertebral compression fracture, Delayed epiphyseal ossification, Scoliosis, Centra...	OMIM:602557
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Delayed pubic bone ossification, Scoliosis, Hyperlordosis, Hypoplasia of the odontoid process, Pl...	OMIM:184250
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, 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 red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Acute l...	ORPHA:158057
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Platyspondyly, Osteoarthritis, Hip osteoarthritis	OMIM:271600
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Hepatic cysts, Lymphopenia	OMIM:617425
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Wide anterior fontanel, Vertebral arch anomaly, Thin ...	ORPHA:85184
Idiopathic Hypercalciuria	Osteopenia, Osteoporosis	ORPHA:2197
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Spondylo-Ocular Syndrome	Platyspondyly, Abnormal intervertebral disk morphology, Thoracic kyphosis, Osteoporosis, Joint hy...	ORPHA:85194
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Scoliosis, Joint hypermobility, Bowing of limbs due to multiple fractures, Recurre...	OMIM:615220
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Cervical spinal canal stenosis, Ankle flexion contracture, Reduced bone mineral density, Vertebra...	OMIM:620232
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Rhabdoid Tumor	Thrombocytopenia, Neoplasm of the liver, Anemia, Lymphadenopathy	ORPHA:69077
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools	OMIM:619868
Coproporphyria, Hereditary	Jaundice, Splenomegaly, Hepatomegaly	OMIM:121300
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Osteogenesis Imperfecta, Type Xvii	Kyphoscoliosis, Reduced bone mineral density, Platyspondyly, Vertebral compression fracture, Oste...	OMIM:616507
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormality of the vertebral column, Vertebral wedging, Scoliosi...	ORPHA:93314
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly	OMIM:608540
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Short neck, Decreased skull ossification	ORPHA:93267
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:620481
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly	OMIM:214900
Autoinflammatory Disease, Systemic, X-Linked	B lymphocytopenia, Hepatosplenomegaly, Neutropenia	OMIM:301081
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly	OMIM:616719
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Splenomegaly	OMIM:613490
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Splenomega...	OMIM:612783
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Platyspondyly, Vertebral compression fracture, Decreased calvarial ossification, Join...	OMIM:616229
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Cardiomegaly	OMIM:269920
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	B lymphocytopenia, T lymphocytopenia	OMIM:601457
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Anemia, Splenomegaly	ORPHA:1046
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess	ORPHA:100083
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ...	OMIM:600081
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Lumbar platyspondyly, Increased intervertebral space, Coarse metaphy...	OMIM:618961
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:620603
Igg4-Related Aortitis	Hypereosinophilia	ORPHA:449400
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Abnormal T cell count, Abnormal B cell count, Autoimmune thrombocy...	OMIM:613496
Smith-Mccort Dysplasia 1	Beaking of vertebral bodies, Scoliosis, Limitation of joint mobility, Kyphosis, Atlantoaxial inst...	OMIM:607326
Osteogenesis Imperfecta, Type Xiii	Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Platyspondyly, Increas...	OMIM:614856
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteo...	OMIM:300554
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia	OMIM:612692
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Kyphoscoliosis, Platyspondyly, Camptodactyly of finger, Irregular vertebral endplates...	OMIM:612350
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Splenomegaly	OMIM:228000
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	B lymphocytopenia, Decreased proportion of class-switched memory B cells, Absent circulating B ce...	OMIM:619705
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Platyspondyly, Delayed ossification of carpal bones, Scoliosis, Narrow vertebral interpedicular d...	OMIM:618395
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly	ORPHA:75233
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Ascites, Portal...	ORPHA:79124
Netherton Syndrome	Hypereosinophilia	OMIM:256500
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Cervical instability, Scol...	ORPHA:94068
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Immunodeficiency 92	Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ...	OMIM:619652
Amyloidosis, Familial Visceral	Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly, Osteoarthritis	ORPHA:93283
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari...	OMIM:618849
Pseudo-Torch Syndrome 3	Anemia, Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia	OMIM:618886
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233710
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci...	ORPHA:64743
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat...	OMIM:616828
Renal Tubular Acidosis, Distal, 1	Osteomalacia, Pathologic fracture	OMIM:179800
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
Mucopolysaccharidosis, Type Iva	Anterior beaking of lumbar vertebrae, Lumbar kyphosis, Platyspondyly, Scoliosis, Hyperlordosis, K...	OMIM:253000
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Delayed pubic bone ossification, Limitation of knee mobility, Delayed cal...	OMIM:183900
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Joint stiffness, Abnormal intervertebral disk morphology, Platyspondyly, Osteoarthritis	ORPHA:1345
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Kyphoscoliosis, Arthritis, Hypoplasia of the odontoid process, Irregular vertebral endplates, Pla...	OMIM:184100
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia	ORPHA:520
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
Immunodeficiency 57 With Autoinflammation	B lymphocytopenia, Reduced natural killer cell count, Perianal abscess, T lymphocytopenia	OMIM:618108
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Hurler-Scheie Syndrome	Abnormality of the tonsils, Hepatomegaly, Splenomegaly	ORPHA:93476
Adult-Onset Still Disease	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, S...	ORPHA:829
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepati...	ORPHA:848
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis, Cryptorchidism	ORPHA:99812
Cole-Carpenter Syndrome 2	Osteopenia, Lambdoidal craniosynostosis, Kyphosis, Coronal craniosynostosis, Platyspondyly, Recur...	OMIM:616294
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Autosomal Dominant Brachyolmia	Kyphoscoliosis, Increased vertebral height, Platyspondyly	ORPHA:93304
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Odontochondrodysplasia 1	Biconvex vertebral bodies, Platyspondyly, Delayed ossification of carpal bones, Scoliosis, Osteop...	OMIM:184260
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count	OMIM:616050
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233690
Transcobalamin Deficiency	Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia	ORPHA:859
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Recurrent fractures, Osteomalacia	OMIM:613388
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:75234
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Platyspondyly, Premature osteoarthritis	OMIM:184840
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili...	ORPHA:1414
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:617591
Brachyolmia, Maroteaux Type	Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de...	ORPHA:289176
Spondylometaphyseal Dysplasia, Axial	Splenomegaly	OMIM:602271
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Reduced bone mineral density, Pathologic fracture, Hypophosphatemic rickets	ORPHA:157215
Gm1-Gangliosidosis, Type Ii	Beaking of vertebral bodies, Platyspondyly, Scoliosis, Joint stiffness, Hypoplastic vertebral bod...	OMIM:230600
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ...	OMIM:607676
Coccidioidomycosis	Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, Granuloma, Abnormality of the spleen,...	ORPHA:228123
Ziegler-Huang Syndrome	Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Bone marrow hypoce...	OMIM:620501
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	B lymphocytopenia, Decreased proportion of memory B cells	ORPHA:70593
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Aplastic anemia, Cirrhosis, Mediastinal lymphadenopathy, Anemia, Pancytopenia, Bone marrow hypoce...	OMIM:614742
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Adrenocorticotropic hormone deficiency,...	ORPHA:199299
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Abnormal ver...	ORPHA:93315
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia	OMIM:617243
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recur...	OMIM:241530
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Eosinophilia	ORPHA:2314
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Splenomegaly, Cardiomegaly	OMIM:256550
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly	OMIM:260920
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Thoracolumbar kyphosis, Platyspondyly, Delayed epiphyseal ossification, Scoliosis...	ORPHA:93360
Pseudoachondroplasia	Limited elbow extension, Beaking of vertebral bodies, Atlantoaxial dislocation, Platyspondyly, De...	OMIM:177170
Immunodeficiency 70	B lymphocytopenia, Decreased proportion of CD4-positive helper T cells	OMIM:618969
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Thro...	OMIM:267700
Cantu Syndrome	Osteoporosis, Ovoid vertebral bodies, Platyspondyly, Short neck, Cuboid-shaped vertebral bodies	OMIM:239850
Melnick-Needles Syndrome	Osteolytic defects of the phalanges of the hand, Abnormal cortical bone morphology, Craniofacial ...	ORPHA:2484
Mucopolysaccharidosis Type 4	Reduced bone mineral density, Platyspondyly, Scoliosis, Hyperlordosis, Kyphosis, Spinal canal ste...	ORPHA:582
Kniest Dysplasia	Fused cervical vertebrae, Delayed epiphyseal ossification, Vertebral wedging, Abnormal bone struc...	ORPHA:485
Immunodeficiency, Common Variable, 7	Splenomegaly	OMIM:614699
Chronic Beryllium Disease	Abnormal proportion of CD4-positive T cells, Mediastinal lymphadenopathy	ORPHA:133
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Scoliosis, Coarse metaphyseal trabecularization, Scle...	ORPHA:85188
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Platyspondyly, Anterior beaking of lumbar vertebrae	OMIM:271620
Pseudodiastrophic Dysplasia	Scoliosis, Camptodactyly, Hypoplasia of the odontoid process, Tongue-like lumbar vertebral deform...	OMIM:264180
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ...	OMIM:608203
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thr...	ORPHA:540
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Splenomegaly	OMIM:602390
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Leukopenia, Sple...	OMIM:603553
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Splenomegaly	OMIM:615637
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia	ORPHA:89937
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Platyspondyly, Decreased skull ossification	OMIM:300863
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Pancreatitis, Cholangitis, Lymphadenopathy, Abnormality of the anterior...	ORPHA:449563
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Schwartz-Jampel Syndrome, Type 1	Kyphoscoliosis, Flexion contracture of toe, Shoulder flexion contracture, Scoliosis, Wrist flexio...	OMIM:255800
Spondylometaphyseal Dysplasia, Kozlowski Type	Kyphoscoliosis, Delayed ossification of carpal bones, Elbow flexion contracture, Scoliosis, Hypop...	OMIM:184252
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Osteosclerosis of ribs, Irregular vertebral endplates, Platyspondy...	ORPHA:174
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hip osteoarthritis, Scoliosis, Limitation of joint mobility, Kyphosis, Hump-shaped mound of bone ...	OMIM:313400
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Delayed ossification of carpal bones, Scoliosis,...	ORPHA:168549
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Neutrophilia	OMIM:266265
Agammaglobulinemia, X-Linked	Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Ly...	OMIM:300755
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Multiple prenatal fractures, Platyspondyly, Recurrent fractures	OMIM:166210
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Combined Immunodeficiency Due To Dock8 Deficiency	B lymphocytopenia, T lymphocytopenia	ORPHA:217390
Fanconi Renotubular Syndrome 3	Rickets	OMIM:615605
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Kyphoscoliosis, Platyspondyly, Pathologic fracture, Vertebral compression fracture, S...	OMIM:259770
Otospondylomegaepiphyseal Dysplasia	Abnormal vertebral morphology, Limitation of joint mobility, Abnormally ossified vertebrae, Coron...	ORPHA:1427
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation...	OMIM:602347
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, Anemia of inadequate produ...	ORPHA:231222
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture	OMIM:620366
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets	OMIM:211600
Infantile Systemic Hyalinosis	Osteopenia, Osteoporosis, Joint stiffness, Camptodactyly of finger, Osteomalacia, Short neck, Rec...	ORPHA:2176
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Kyphoscoliosis, Platyspondyly, Cervical spine instability, Joint contracture, Joint h...	OMIM:615349
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Anauxetic Dysplasia 1	Limited elbow extension, Platyspondyly, Delayed ossification of carpal bones, Elbow flexion contr...	OMIM:607095
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly	OMIM:306000
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormality ...	ORPHA:398124
Legionnaires Disease	Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, ...	ORPHA:549
Dysosteosclerosis	Osteopenia, Clavicular sclerosis, Platyspondyly, Increased intervertebral space, Sclerosis of han...	OMIM:224300
Dermatosparaxis Ehlers-Danlos Syndrome	Rickets, Osteopenia, Scoliosis, Osteoporosis, Joint stiffness, Osteomalacia, Joint hypermobility	ORPHA:1901
Common Variable Immunodeficiency	Lymphadenopathy, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoimmune thrombocytopenia...	ORPHA:1572
Multiple Epiphyseal Dysplasia, Beighton Type	Lumbar platyspondyly, Intervertebral space narrowing, Abnormal lumbar spine morphology, Limitatio...	ORPHA:166011
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Stickler Syndrome Type 1	Joint hypermobility, Abnormal vertebral epiphysis morphology, Platyspondyly, Osteoarthritis	ORPHA:90653
Autosomal Recessive Stickler Syndrome	Joint hypermobility, Platyspondyly, Irregular vertebral endplates	ORPHA:250984
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Splenomegaly, Schistocytosis	OMIM:616084
Spondyloepimetaphyseal Dysplasia, Irapa Type	Limited elbow extension, Hypoplastic sacrum, Osteoarthritis, Platyspondyly, Capitate-hamate fusio...	OMIM:271650
Osteogenesis Imperfecta, Type I	Osteopenia, Biconcave flattened vertebrae, Joint hypermobility, Finger joint hypermobility, Recur...	OMIM:166200
Kniest Dysplasia	Tracheomalacia, Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, C...	OMIM:156550
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Ascites, Granuloma, ...	OMIM:306400
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Cholestasis, Leukocytosis, Lymphadenitis, Splenomegaly, He...	OMIM:615895
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Recurrent cut...	OMIM:619374
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Abnormal natural killer cell count, Abnormal T cell count, Abnormal ...	OMIM:620430
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Normocytic hypoplastic anemia, H...	OMIM:610377
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, B lymphocytopenia, Pancytopenia	OMIM:620133
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Decreased skull ossification, Multiple prenatal fractures, Flexion contracture, Fract...	OMIM:616897
Igg4-Related Kidney Disease	Enlarged kidney, Pancreatitis, Lymphadenopathy, Sclerosing cholangitis, Abnormality of the anteri...	ORPHA:449395
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Dent Disease 1	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur...	OMIM:300009
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Sialidosis Type 2	Ascites, Hepatomegaly, Splenomegaly	ORPHA:87876
Desbuquois Dysplasia 1	Platyspondyly, Scoliosis, Hyperlordosis, Osteoporosis, Kyphosis, Advanced tarsal ossification, Os...	OMIM:251450
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Limited elbow extension, Scoliosis, Thoracolumbar scoliosis, Short neck, Platyspondyl...	OMIM:616723
Incontinentia Pigmenti	Breast hypoplasia, Breast aplasia, Hypoplastic nipples, Leukocytosis, Eosinophilia, Supernumerary...	OMIM:308300
Rhizomelic Dysplasia, Ain-Naz Type	Platyspondyly, Limitation of joint mobility	OMIM:619598
Mucopolysaccharidosis, Type Ivb	Platyspondyly, Scoliosis, Hyperlordosis, Kyphosis, Osteoporosis, Joint stiffness, Ovoid vertebral...	OMIM:253010
Eosinophilic Granulomatosis With Polyangiitis	Eosinophilia	ORPHA:183
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Cryptorchidism, Abnormal B cell morphology	OMIM:616910
American Trypanosomiasis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3386
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Abdominal mass, Thrombocytopenia,...	ORPHA:160
Hypophosphatasia, Infantile	Unossified vertebral bodies, Vertebral clefting, Decreased calvarial ossification, Platyspondyly,...	OMIM:241500
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Sclerotic vertebral body, Diaphyseal sclerosis, Kyphosis, Increased skull ossifica...	OMIM:618476
Osteogenesis Imperfecta, Type X	Osteopenia, Platyspondyly, Vertebral compression fracture, Scoliosis, Decreased calvarial ossific...	OMIM:613848
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets	OMIM:611590
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Osteoporosis	OMIM:560000
Mucoepithelial Dysplasia, Hereditary	Eosinophilia	OMIM:158310
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Postnatal growth retardation, Abdominal obesity, Truncal obesity, Short stature	OMIM:618160
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis	ORPHA:294
Gm1-Gangliosidosis, Type Iii	Hepatomegaly, Splenomegaly	OMIM:230650
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Decreased proporti...	ORPHA:508533
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:301000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ...	OMIM:264700
Letterer-Siwe Disease	Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Scrub Typhus	Lymphadenopathy, Splenomegaly	ORPHA:83317
Immunodeficiency 26 With Or Without Neurologic Abnormalities	B lymphocytopenia, Abnormal natural killer cell morphology, T lymphocytopenia	OMIM:615966
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Vitamin D-Dependent Rickets, Type 2A	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ...	OMIM:277440
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr...	OMIM:300835
Familial Osteodysplasia, Anderson Type	Abnormal cortical bone morphology, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Re...	ORPHA:2769
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Persistence of hemoglo...	OMIM:613673
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:290
Immunodeficiency 89 And Autoimmunity	Hypochromic microcytic anemia, Decreased eosinophil count	OMIM:619632
Ghosal Hematodiaphyseal Dysplasia	Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis	OMIM:231095
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metacarpal osteolysis, Ankle flexion contracture, Ankylosis of feet small joints, Kyp...	OMIM:259600
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	ORPHA:88
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hyperlordosis, Osteoporosis, Irregular tarsal ossification, Hypoplasia of the odontoid process, I...	OMIM:226980
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Lumbar scoliosis, Platyspondyly, Irregular vertebral endplates	OMIM:612847
Aprosencephaly Syndrome	Anencephaly, Aprosencephaly	OMIM:207770
Sickle Cell Anemia	Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus...	ORPHA:232
Avascular Necrosis Of Femoral Head, Primary, 2	Platyspondyly	OMIM:617383
Insulin-Like Growth Factor I Deficiency	Osteopenia, Postnatal growth retardation, Decreased body weight, Short stature, Intrauterine grow...	OMIM:608747
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Platyspondyly, Scoliosis, Elbow flexion contracture, Contracture of the proximal inte...	OMIM:612394
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia	OMIM:619046
Kikuchi-Fujimoto Disease	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis, Enlargement...	ORPHA:50918
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha...	OMIM:617718
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Splenomegaly, Chronic lymphatic leukemia	ORPHA:90033
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombo...	ORPHA:158048
Diamond-Blackfan Anemia 4	Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia	OMIM:612527
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Fibrous Dysplasia Of Bone	Rickets, Pathologic fracture, Abnormal lumbar spine morphology, Scoliosis, Abnormal bone structur...	ORPHA:249
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Splenomegaly	OMIM:613489
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,...	ORPHA:35078
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Hypophosphatemic rickets, Spinal canal stenosis, Osteoarthritis, Osteomalacia	OMIM:307800
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Reduced natural killer cell count	OMIM:241600
Schneckenbecken Dysplasia	Narrow vertebral interpedicular distance, Ovoid vertebral bodies, Advanced tarsal ossification, P...	OMIM:269250
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Platyspondyly, Hypoplasia of the odontoid process, Irregularity of vertebral bodies	ORPHA:85172
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly	OMIM:235555
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl...	OMIM:615934
Thrombocytopenia-Absent Radius Syndrome	Anemia, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia, Pancreatic cysts	OMIM:274000
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Platyspondyly, Irregularity of vertebral bodies	OMIM:609324
Mixed Connective Tissue Disease	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Hemolytic a...	ORPHA:809
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia	OMIM:614069
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Macrocephaly/Autism Syndrome	Hydrocele testis, Hepatomegaly, Splenomegaly, Lymphopenia	OMIM:605309
Pachydermoperiostosis	Abnormal cortical bone morphology, Arthritis, Scoliosis, Limitation of joint mobility, Osteoporos...	ORPHA:2796
Sarcoidosis	Abnormal liver parenchyma morphology, Enlarged lacrimal glands, Hepatomegaly, Anemia, Lymphadenop...	ORPHA:797
Spondyloepiphyseal Dysplasia, Kimberley Type	Platyspondyly	OMIM:608361
Thrombocytopenia 2	Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume	OMIM:188000
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Neutrophilia, Abscess, Splenomegaly, Hepatomegaly	OMIM:612852
Morquio Syndrome C	Platyspondyly	OMIM:252300
Stüve-Wiedemann Syndrome	Osteopenia, Sacral dimple, Abnormal cortical bone morphology, Scoliosis, Elbow flexion contractur...	ORPHA:3206
Majeed Syndrome	Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Splenomegaly, Congenital hypoplastic a...	ORPHA:77297
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Bone marrow hypocellularit...	ORPHA:86839
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly	OMIM:613027
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt...	ORPHA:508542
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Limited elbow extension, Kyphoscoliosis, Delayed ossification of carpal bones, Laryng...	OMIM:271510
Atelosteogenesis, Type Ii	Increased intervertebral space, Scoliosis, Horizontal sacrum, Coronal cleft vertebrae, Platyspond...	OMIM:256050
Adams-Oliver Syndrome 6	Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Atelosteogenesis Type I	Absent or minimally ossified vertebral bodies, Scoliosis, Coronal cleft vertebrae, Platyspondyly,...	ORPHA:1190
Free Sialic Acid Storage Disease	Ascites, Hepatomegaly, Splenomegaly	ORPHA:834
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Platyspondyly, Scoliosis	OMIM:618728
Familial Pancreatic Carcinoma	Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic insufficie...	ORPHA:1333
Hypophosphatemic Rickets And Hyperparathyroidism	Rickets, Hypophosphatemic rickets	OMIM:612089
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstruction, Splenic...	ORPHA:77259
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Anal Fistula	Leukocytosis	ORPHA:228113
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Acute hepatitis, Hepatitis, Thrombocytopenia, Splenome...	ORPHA:905
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Decreased cranial base ossification, Wafer-thin platyspondyly, Ovoid vertebral bodies, Severe pla...	OMIM:151210
Good Syndrome	Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Thrombocytopenia, Thymoma, Ap...	ORPHA:169105
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Cantú Syndrome	Osteoporosis, Ovoid vertebral bodies, Platyspondyly, Short neck, Cuboid-shaped vertebral bodies	ORPHA:1517
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, Primary testicular failure...	ORPHA:85450
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Lymphopenia, Ascites, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic a...	ORPHA:93552
Disabling Pansclerotic Morphea Of Childhood	Neutropenia, Lymphopenia	OMIM:620443
Transaldolase Deficiency	Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Hepatosplenomegaly, Splenomegaly, Micronodular cir...	OMIM:606003
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hypertension, Bone marr...	OMIM:615688
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short neck, Dysplastic sacrum, Severe platyspondyly, Delayed epiphyseal ossification	OMIM:613320
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ...	ORPHA:83471
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Kyphoscoliosis, Vertebral compression fracture, Hyperextensibility of the finger joints, Scoliosi...	OMIM:309583
Pseudodiastrophic Dysplasia	Platyspondyly, Scoliosis	ORPHA:85174
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Leukemia	ORPHA:33226
Cryoglobulinemic Vasculitis	Hepatomegaly, Mediastinal lymphadenopathy, Viral hepatitis, Splenomegaly, Abnormality of the liver	ORPHA:91138
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin bony cortex,...	ORPHA:289157
Bent Bone Dysplasia Syndrome 2	Osteopenia, Butterfly vertebrae, Decreased calvarial ossification, Coronal cleft vertebrae, Platy...	OMIM:620076
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid...	ORPHA:1332
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Stickler Syndrome, Type Iv	Joint hypermobility, Scoliosis, Platyspondyly, Intervertebral space narrowing	OMIM:614134
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide anterior fontanel, Abnormal cortical bone morphology	OMIM:614886
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Incontinentia Pigmenti	Eosinophilia, Supernumerary nipple	ORPHA:464
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splenomegaly, ...	OMIM:607765
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Stickler Syndrome, Type I	Beaking of vertebral bodies, Platyspondyly, Spondylolisthesis, Arthritis, Scoliosis, Kyphosis, Mo...	OMIM:108300
Relapsing Fever	Jaundice, Anemia, Leukocytosis, Neutrophilia, Leukopenia, Thrombocytopenia	ORPHA:91547
Odontochondrodysplasia	Joint hypermobility, Scoliosis, Platyspondyly	ORPHA:166272
Prolidase Deficiency	Hepatomegaly, Anemia, Prolonged neonatal jaundice, Thrombocytopenia, Splenomegaly	OMIM:170100
Dental Anomalies And Short Stature	Intervertebral space narrowing, Scoliosis, Narrow vertebral interpedicular distance, Platyspondyl...	OMIM:601216
Hoxha-Aliu Syndrome	Osteopenia, Contracture of the proximal interphalangeal joint of the 4th finger, Sacral dimple, I...	OMIM:620662
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt...	OMIM:243150
Hypocomplementemic Urticarial Vasculitis	Lymphadenopathy, Ascites, Hepatomegaly, Splenomegaly	ORPHA:36412
ERI1-related disease	Osteopenia, Limited elbow extension, Increased vertebral height, Scoliosis, Platyspondyly, Finger...	OMIM:608739
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosis	OMIM:620233
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole...	ORPHA:131
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Anterior scalloping of vertebral bodies, Delayed epiphyseal ossification, Flexion contracture, Pl...	OMIM:611717
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:252920
Graft Versus Host Disease	Jaundice, Lymphadenopathy, Hemophagocytosis, Acute hepatitis, Chronic hepatitis, Hepatosplenomegaly	ORPHA:39812
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscula...	ORPHA:231226
Niemann-Pick Disease, Type C2	Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Thanatophoric Dysplasia	Platyspondyly, Kyphosis, Joint stiffness, Abnormal sacroiliac joint morphology, Joint hypermobility	ORPHA:2655
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis, Cholangitis	OMIM:614204
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th...	OMIM:210250
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Ascites, Splenomegaly, Cardiomegaly, Testicula...	OMIM:235200
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Polycythemia Vera	Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth...	ORPHA:729
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Pheochromocytoma, Ascites	ORPHA:139411
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis	ORPHA:1302
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Accessory spleen, Portal hypertension, Severe B lymphocytopenia, Macronodular cirrhosis, ...	OMIM:620005
Wiskott-Aldrich Syndrome	Acute leukemia, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platel...	ORPHA:906
Typhoid	Hepatomegaly, Splenomegaly	ORPHA:99745
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Polycythemia, Splenomegaly, Increased circ...	ORPHA:2905
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Platyspondyly, Wide anterior fontanel, Thoracolumbar kyphoscoliosis,...	OMIM:618853
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic steatosis	OMIM:618641
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Schimke Immunoosseous Dysplasia	Osteopenia, Thoracic kyphosis, Ovoid vertebral bodies, Platyspondyly, Short neck, Lumbar hyperlor...	OMIM:242900
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Pancreatic ...	OMIM:602782
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Splenomegaly	OMIM:618541
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Decreased calvarial ossification, Platyspondyly, Vertebral wedging	OMIM:617866
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Familial Thrombocytosis	Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia	ORPHA:71493
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat...	OMIM:613812
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Hypoparath...	ORPHA:231214
Trisomy 20P	Reduced bone mineral density, Platyspondyly, Abnormal form of the vertebral bodies, Scoliosis, Ve...	ORPHA:261318
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Enlarged platelet...	OMIM:608233
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Tangier Disease	Hepatomegaly, Splenomegaly, Left ventricular hypertrophy	OMIM:205400
Greenberg Dysplasia	Absent or minimally ossified vertebral bodies, Supernumerary vertebral ossification centers, Plat...	OMIM:215140
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
Hereditary Chronic Pancreatitis	Jaundice, Leukocytosis, Pancreatic calcification, Recurrent pancreatitis	ORPHA:676
Dent Disease	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur...	ORPHA:1652
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Splenomegaly, Right ventricular hypertrophy	OMIM:616028
Chédiak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnor...	ORPHA:167
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Osteopenia, Limited elbow extension, Increased vertebral height, Scoliosis, Decreased hip abducti...	OMIM:620663
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Neutrophilia, Splenomegaly, Peritonitis, Orchitis	OMIM:249100
Herpes Simplex Virus Encephalitis	Neutrophilia, Leukocytosis	ORPHA:1930
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Scoliosis, Platyspondyly	OMIM:619269
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Spondyloocular Syndrome	Osteopenia, Femur fracture, Vertebral compression fracture, Platyspondyly, Thin bony cortex	OMIM:605822
Thanatophoric Dysplasia Type 2	Joint hypermobility, Platyspondyly, Limitation of joint mobility, Kyphosis	ORPHA:93274
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Kyphoscoliosis, Limited elbow extension, Beaking of vertebral bodies, Hyperlordosis, ...	ORPHA:457395
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Kyphoscoliosis, Beaking of vertebral bodies, Atlantoaxial dislocation, Congenital kyp...	ORPHA:536467
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Limited elbow extension, Ovoid vertebral bodies, Platyspondyly, Lumbar hyperlordosis	OMIM:608728
Caroli Syndrome	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Pancreatitis, Hepatomegaly, Liver abs...	ORPHA:480520
Tropical Endomyocardial Fibrosis	Hepatomegaly, Ascites, Splenomegaly, Cardiomegaly, Eosinophilia	ORPHA:75565
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Dyggve-Melchior-Clausen Disease	Beaking of vertebral bodies, Multicentric ossification of proximal humeral epiphyses, Multicentri...	OMIM:223800
X-Linked Hypophosphatemia	Rickets, Reduced bone mineral density, Vertebral hyperostosis, Arthritis, Limitation of joint mob...	ORPHA:89936
Hereditary Orotic Aciduria	Anemia, Splenomegaly	ORPHA:30
Cystinosis	Rickets	ORPHA:213
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly	OMIM:252900
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Pear-shaped vertebrae, Irregular sclerotic endplates, Osteoarthritis, Pl...	OMIM:602111
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Tangier Disease	Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocytopenia, Hepat...	ORPHA:31150
Q Fever	Hepatomegaly, Anemia, Lymphadenopathy, Granuloma, Hepatosplenomegaly, Splenomegaly, Thrombocytope...	ORPHA:781
Kasabach-Merritt Phenomenon	Hepatic hemangioma, Anemia, Abnormal lymphatic vessel morphology, Reticulocytosis, Leukopenia, Th...	ORPHA:2330
Poikiloderma With Neutropenia	Leukopenia, Splenomegaly, Neutropenia	OMIM:604173
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Leukocytosis, Orchitis, Splenomegaly, Peritonitis	ORPHA:32960
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Czech Dysplasia	Intervertebral space narrowing, Scoliosis, Thoracic kyphosis, Limitation of joint mobility, Flexi...	OMIM:609162
Mccune-Albright Syndrome	Aneurysmal bone cyst, Scoliosis, Polyostotic fibrous dysplasia, Monostotic fibrous dysplasia, Ost...	ORPHA:562
Congenital Enterovirus Infection	Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Leukopenia, Thrombocytopenia, ...	ORPHA:292
Scheie Syndrome	Hepatomegaly, Splenomegaly	ORPHA:93474
Faciocardiomelic Syndrome	Osteopenia, Cuboid-shaped vertebral bodies, Thin bony cortex	OMIM:612731
H Syndrome	Enlarged kidney, Lymphadenopathy, Decreased testicular size, Hepatosplenomegaly, Histiocytosis, M...	ORPHA:168569
Weill-Marchesani Syndrome 1	Scoliosis, Joint stiffness, Spinal canal stenosis, Thin bony cortex, Lumbar hyperlordosis	OMIM:277600
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n...	ORPHA:37042
Gm1-Gangliosidosis, Type I	Vacuolated lymphocytes, Hepatomegaly, Splenomegaly	OMIM:230500
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Rectal abscess, Neutropenia	OMIM:601495
Neuroblastoma	Thrombocytopenia, Anemia, Lymphadenopathy, Abdominal mass	ORPHA:635
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint hypermobility, Short neck, Platyspondyly, Lumbar hyperlordosis	OMIM:612813
Lenz-Majewski Hyperostotic Dwarfism	Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral de...	ORPHA:2658
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Abnormal trabecular bone morphology	OMIM:612301
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly	OMIM:259700
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Platyspondyly, Scoliosis, Elbow flexion contracture, Osteoporosis, Generalized osteop...	OMIM:245600
Mcleod Syndrome	Acanthocytosis, Hepatomegaly, Splenomegaly	OMIM:300842
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Kyphosis, Joint stiffness, Campt...	ORPHA:354
Congenital Bile Acid Synthesis Defect Type 2	Rickets	ORPHA:79303
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Beaking of vertebral bodies, Premature osteoarthritis, Coronal cleft vertebrae, Flexion contractu...	OMIM:215150
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Cholestasis, Prolonged neonatal jau...	OMIM:300972
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231005
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Splenomegaly, Peritonitis, Orchitis	ORPHA:342
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Leukopenia, Leukocytosis	ORPHA:36238
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased response to growth hormone stimulation test, Abnormal lymphocyte morphology, Abnormal s...	ORPHA:293978
Sepsis In Premature Infants	Jaundice, Anemia, Hepatomegaly, Leukocytosis, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:90051
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Periportal fibrosis, Ascites, Portal hypertension, Hepatocellular necrosi...	OMIM:251880
Fanconi-Bickel Syndrome	Rickets, Osteopenia	ORPHA:2088
Multiple Myeloma	Lymphadenopathy, Anemia, Splenomegaly	ORPHA:29073
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis...	OMIM:208540
Thanatophoric Dysplasia Type 1	Wide anterior fontanel, Kyphosis, Joint stiffness, Abnormal sacroiliac joint morphology, Platyspo...	ORPHA:1860
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Leukocytosis, Ascites, Hepatos...	OMIM:259720
Neu-Laxova Syndrome	Rickets, Osteopenia, Scoliosis, Osteoporosis, Flexion contracture, Osteomalacia, Arthrogryposis m...	ORPHA:2671
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly	ORPHA:3035
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal B cell morpho...	OMIM:615607
Farber Disease	Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Ascites, Hepatosplenome...	ORPHA:333
Congenital Syphilis	Pancreatitis, Anemia, Lymphadenopathy, Prolonged neonatal jaundice, Hepatosplenomegaly, Thrombocy...	ORPHA:499009
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:391487
Hall-Riggs Syndrome	Joint stiffness, Scoliosis, Platyspondyly	ORPHA:2107
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Splenomegaly, Pancreatic f...	OMIM:232220
Pancreatic Triacylglycerol Lipase Deficiency	Rickets, Osteomalacia, Osteoporosis	ORPHA:309031
Autoimmune Hepatitis	Cirrhosis, Jaundice, Sclerosing cholangitis, Acute hepatitis, Fulminant hepatitis, Hepatocellular...	ORPHA:2137
Desbuquois Dysplasia 2	Platyspondyly, Joint hypermobility, Short neck, Advanced ossification of carpal bones, Lumbar hyp...	OMIM:615777
Frank-Ter Haar Syndrome	Osteopenia, Kyphoscoliosis, Wide anterior fontanel, Camptodactyly, Cortical irregularity, Osteopo...	OMIM:249420
Ataxia-Telangiectasia	Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Decreased proportion o...	OMIM:208900
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Jaundice, Hepatomegaly, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:608885
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Combined Oxidative Phosphorylation Deficiency 47	Platyspondyly, Short neck	OMIM:618958
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc...	OMIM:618278
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Brucellosis	Lung abscess, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Leukocytosis, Granuloma, Leuk...	ORPHA:1304
Hennekam Syndrome	Lymphadenopathy, Ascites, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Lymphopenia	ORPHA:2136
Mucopolysaccharidosis, Type Vii	Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Limitation of joint mobility, Kyp...	OMIM:253220
Dyggve-Melchior-Clausen Disease	Limited elbow extension, Beaking of vertebral bodies, Abnormality of the vertebral column, Limite...	ORPHA:239
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion of naive T cells, T lymphocytope...	OMIM:619381
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia	OMIM:600740
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Anemia, Splenomegaly, Primary hyperparathyroidism	OMIM:239200
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta...	OMIM:620376
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Reynolds Syndrome	Jaundice, Hepatomegaly, Cholestasis, Biliary cirrhosis, Splenomegaly, Lymphopenia	OMIM:613471
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Wide anterior fontanel	OMIM:601356
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Generalized joint hypermobility, Beaking of vertebral bodies, Abnormal vertebral morp...	ORPHA:536471
Smith-Mccort Dysplasia 2	Limited elbow extension, Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Short ...	OMIM:615222
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Thoracic kyphosis, Hypoplasia of the odontoid process, Flexion contracture, Platy...	OMIM:300232
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent cutaneous abscess formation, Eosinophilia, Cutaneous abscess, Increased hepatic echogen...	OMIM:147060
Proteus-Like Syndrome	Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly	ORPHA:2969
Aspartylglucosaminuria	Beaking of vertebral bodies, Abnormal vertebral morphology, Abnormal cortical bone morphology, An...	ORPHA:93
Oculodentodigital Dysplasia	Cranial hyperostosis, Abnormal cortical bone morphology, Abnormal form of the vertebral bodies, H...	ORPHA:2710
Geleophysic Dysplasia 1	Osteopenia, Wrist flexion contracture, Joint stiffness, Camptodactyly of finger, Ovoid vertebral ...	OMIM:231050
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Cholestasis, Abnormal e...	ORPHA:264580
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Kyphoscoliosis, Platyspondyly, Pathologic fracture, Osteoporosis, Delayed proximal femoral epiphy...	OMIM:271640
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Hypoparathyroidism, Abnormal B cell morpho...	OMIM:618223
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Osteogenesis Imperfecta	Osteopenia, Reduced bone mineral density, Abnormal cortical bone morphology, Vertebral compressio...	ORPHA:666
Gaucher Disease, Type Ii	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:230900
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Decreased testicular size, Hepatomegaly, Splenomegaly	OMIM:201100
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Decreased response to growth hormone stimulation test, Absent circulating B cells, Enteroviral he...	OMIM:307200
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Leukopenia, Splenomegaly, Thrombocytopenia	OMIM:222700
Carcinoid Syndrome	Hepatic necrosis, Chronic noninfectious lymphadenopathy	ORPHA:100093
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Increased intervertebral space, Platyspondyly, Thin bony cortex	OMIM:619727
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple...	ORPHA:567983
Alpha-Mannosidosis, Infantile Form	Osteopenia, Cranial hyperostosis, Platyspondyly, Cortical thickening of long bone diaphyses, Join...	ORPHA:309282
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Hepatocellular carcinoma, Splenomegaly, ...	ORPHA:79240
Isolated Biliary Atresia	Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr...	ORPHA:30391
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Platyspondyly, Synostosis of joints	ORPHA:50945
Schwartz-Jampel Syndrome	Spinal rigidity, Flexion contracture of toe, Increased bone mineral density, Shoulder flexion con...	ORPHA:800
Celiac Disease, Susceptibility To, 1	Rickets, Osteoporosis	OMIM:212750
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cy...	OMIM:263200
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Kyphoscoliosis, Platyspondyly, Osteoporosis, Joint hypermobility, Progressive congeni...	OMIM:225400
Occipital Horn Syndrome	Rickets, Osteopenia, Platyspondyly, Scoliosis, Synostosis of joints, Osteoporosis, Kyphosis, Oste...	ORPHA:198
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, Pheochromo...	ORPHA:99889
Lowry-Wood Syndrome	Joint stiffness, Platyspondyly	ORPHA:1824
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Limited elbow extension, Thoracolumbar kyphosis, Platyspondyly, Hyperlordosis, Camptodactyly, Kyp...	OMIM:618019
Fanconi-Bickel Syndrome	Rickets, Osteomalacia	OMIM:227810
Mucopolysaccharidosis Type 7	Ascites, Hepatitis, Splenomegaly	ORPHA:584
Cushing Disease	Decreased eosinophil count, Leukocytosis, Adrenal hyperplasia, Pituitary corticotropic cell adeno...	ORPHA:96253
Familial Tumoral Calcinosis	Hepatomegaly, Splenomegaly	ORPHA:53715
Primary Triglyceride Deposit Cardiomyovasculopathy	Vacuolated lymphocytes, Hepatomegaly, Pancreatitis, Splenomegaly	ORPHA:565612
Distal Renal Tubular Acidosis	Rickets, Osteomalacia, Reduced bone mineral density, Increased susceptibility to fractures	ORPHA:18
Brachyolmia Type 3	Platyspondyly, Short neck, Scoliosis, Kyphosis	OMIM:113500
Spondyloperipheral Dysplasia	Limited elbow extension, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates, Platysp...	OMIM:271700
Metaphyseal Chondrodysplasia, Schmid Type	Platyspondyly, Scoliosis, Irregular vertebral endplates, Lumbar hyperlordosis	OMIM:156500
Occipital Horn Syndrome	Limited elbow extension, Platyspondyly, Limited knee extension, Osteoporosis, Kyphosis, Joint hyp...	OMIM:304150
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Hypoplasia of the thymus, Increased mean platelet volume, Abnormality of...	ORPHA:84064
Weill-Marchesani Syndrome 2	Flexion contracture of toe, Scoliosis, Elbow flexion contracture, Joint stiffness, Spinal canal s...	OMIM:608328
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy	ORPHA:100075
Osteoglophonic Dysplasia	Osteopenia, Camptodactyly of finger, Short neck, Platyspondyly, Craniosynostosis, Increased susce...	OMIM:166250
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Reduced bone mineral density, Increased suscepti...	ORPHA:2909
Lowe Oculocerebrorenal Syndrome	Rickets, Platyspondyly, Pathologic fracture, Osteomalacia, Scoliosis, Kyphosis, Camptodactyly of ...	OMIM:309000
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Jaundice, Hepatomegaly, Decreased CD4:CD8 ratio, Cholestasis, Ascite...	OMIM:619573
Fibrochondrogenesis 1	Wide anterior fontanel, Posterior vertebral hypoplasia, Camptodactyly, Platyspondyly, Short neck,...	OMIM:228520
Sillence Syndrome	Abnormal vertebral morphology, Intervertebral disk degeneration, Scoliosis, Camptodactyly, Back p...	ORPHA:3168
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis, Testicular teratoma	ORPHA:764
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten...	OMIM:610199
Sweet Syndrome	Anemia, Acute myeloid leukemia, Chronic lymphatic leukemia, Sterile abscess, Leukocytosis, Neutro...	ORPHA:3243
Rhizomelic Dysplasia, Patterson-Lowry Type	Platyspondyly	OMIM:601438
Ileal Neuroendocrine Tumor	Lymphadenopathy, Iron deficiency anemia, Extrahepatic cholestasis	ORPHA:100078
Urachal Cyst	Abdominal mass, Abscess, Leukocytosis, Peritonitis	ORPHA:488
Achondroplasia	Limited elbow extension, Narrow vertebral interpedicular distance, Severe platyspondyly, Lumbar k...	OMIM:100800
Lethal Kniest-Like Dysplasia	Wide anterior fontanel, Hypoplastic vertebral bodies, Coronal cleft vertebrae, Platyspondyly, Sho...	ORPHA:2347
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly	OMIM:612918
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Portal hypertension, Copper accumulation in liver, Polycythemia, Splenome...	ORPHA:309854
Crimean-Congo Hemorrhagic Fever	Jaundice, Hepatomegaly, Lymphadenopathy, Pancytopenia, Parotitis, Acute pancreatitis, Leukocytosi...	ORPHA:99827
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Lymphadenopathy, Hemolytic anemia	ORPHA:536
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Reduced bone mineral density, Scoliosis, Joint hypermobility, Thin bony cortex	OMIM:613658
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Primary Sjögren Syndrome	Normocytic anemia, Lymphadenopathy, Normochromic anemia, Chronic active hepatitis, Parotitis, Bil...	ORPHA:289390
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Intermi...	ORPHA:100085
Neutral Lipid Storage Disease With Myopathy	Chronic pancreatitis, Hepatomegaly, Hepatic steatosis, Splenomegaly	OMIM:610717
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer ce...	ORPHA:221139
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly, Reduced erythrocyte uropo...	OMIM:263700
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Neutrophilia in presence of infection, Abnormal lymphocy...	ORPHA:99826
Autosomal Recessive Malignant Osteopetrosis	Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly	ORPHA:667
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Platyspondyly, Posterior scalloping of vertebral bodies, Irregular vertebral endplates, Joint hyp...	OMIM:610442
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Anemia, Pancytopenia, Hepatitis, Thrombocytopenia, Splenomegaly, Generalized lympha...	OMIM:615846
Rothmund-Thomson Syndrome Type 2	Osteopenia, Finger symphalangism, Abnormal trabecular bone morphology, Pathologic fracture, Synos...	ORPHA:221016
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Epiphyseal stippling, Wide anterior fontanel, Scoliosis, Abnormal calcification of the carpal bon...	OMIM:271665
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Anemia, Hypoparathyroidism, ...	ORPHA:699
Gaucher Disease Type 3	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly	ORPHA:77261
Mucopolysaccharidosis, Type X	Beaking of vertebral bodies, Scoliosis, Hyperlordosis, Posterior scalloping of vertebral bodies, ...	OMIM:619698
Down Syndrome	Leukemia, Abnormality of the lymphatic system, Polycythemia, Neutrophilia, Thrombocytopenia, Acut...	ORPHA:870
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Abnormality of the...	ORPHA:79078
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Scoliosis, Joint stiffness, Ovoid vertebral bodies, Severe platyspondyly, Platyspondyly	OMIM:608940
Myhre Syndrome	Joint stiffness, Platyspondyly, Craniofacial hyperostosis	ORPHA:2588
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Rickets, Osteopenia, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodi...	ORPHA:2636
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp...	OMIM:181000
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Familial Hypocalciuric Hypercalcemia	Osteomalacia	ORPHA:405
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancreatic hypoplasia, Biliary hyperplasia, Seve...	ORPHA:83617
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100082
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Jaundice, Cholangitis, Periportal fibrosis, Cholestasis, Ascites, Portal hyperte...	ORPHA:731
Saul-Wilson Syndrome	Platyspondyly, Wide anterior fontanel, Hypoplasia of the odontoid process, Irregular vertebral en...	OMIM:618150
Primary Fanconi Renotubular Syndrome	Osteomalacia, Hypophosphatemic rickets, Increased susceptibility to fractures	ORPHA:3337
Rothmund-Thomson Syndrome Type 1	Osteopenia, Finger symphalangism, Abnormal trabecular bone morphology	ORPHA:221008
Thanatophoric Dysplasia, Type I	Platyspondyly, Short neck, Severe platyspondyly	OMIM:187600
Fibrochondrogenesis 2	Platyspondyly	OMIM:614524
Spondylometaphyseal Dysplasia, Schmidt Type	Kyphoscoliosis, Scoliosis, Platyspondyly, Abnormality of the vertebral column	ORPHA:93316
Tyrosinemia, Type I	Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Hepatocellular carcinoma, Ascites, Splenomegaly...	OMIM:276700
Sponastrime Dysplasia	Limited elbow extension, Kyphoscoliosis, Platyspondyly, Hyperconvex vertebral body endplates, Del...	ORPHA:93357
Kawasaki Disease	Cervical lymphadenopathy, Jaundice, Leukocytosis, Thrombocytosis, Hepatitis, Cholecystitis	ORPHA:2331
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Aplasia of the sweat glands, Splenomegaly	OMIM:612132
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Wide anterior fontanel, Lumbar hyperlordosis, Kyphosis	OMIM:616482
Spondyloenchondrodysplasia	Platyspondyly, Arthritis, Juvenile rheumatoid arthritis, Kyphosis	ORPHA:1855
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia, T lymphocytopenia	OMIM:251260
Stickler Syndrome	Reduced bone mineral density, Platyspondyly, Spondylolisthesis, Abnormal form of the vertebral bo...	ORPHA:828
Thanatophoric Dysplasia, Type Ii	Platyspondyly	OMIM:187601
Primary Sclerosing Cholangitis	Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal...	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, Ovoid vertebral bodies, Lumbar hyperlordosis	ORPHA:1830
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Splenomegaly, Abnormality of the liver	ORPHA:90340
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Short neck, Delayed epiphyseal ossification	OMIM:250220
Spondyloepimetaphyseal Dysplasia, X-Linked	Limited elbow extension, Platyspondyly, Delayed ossification of carpal bones, Kyphosis, Anterior ...	OMIM:300106
Alg12-Cdg	B lymphocytopenia, Cryptorchidism, Thrombocytopenia	ORPHA:79324
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Anemia, Leukocytosis, Neutrophilia, Microcytic anemia	ORPHA:99843
Congenital Erythropoietic Porphyria	Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Erythr...	ORPHA:79277
Acromesomelic Dysplasia 4	Beaking of vertebral bodies, Thoracic scoliosis, Platyspondyly, Thoracic platyspondyly, Lumbar hy...	OMIM:619636
Chronic Visceral Acid Sphingomyelinase Deficiency	Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, Thrombocytopenia, Splenome...	ORPHA:77293
Leptospirosis	Jaundice, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Hepatitis	ORPHA:509
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Lymphadenopathy, Parotitis, Thrombocytopenia, Splenomegaly, Cardiomegaly, Microcyti...	OMIM:256040
Oculocerebrorenal Syndrome Of Lowe	Platyspondyly, Arthritis, Scoliosis, Kyphosis, Joint stiffness, Osteomalacia, Joint hypermobility...	ORPHA:534
Lymphangioleiomyomatosis	Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy, Ascites	ORPHA:538
Behçet Disease	Lymphadenopathy, Orchitis, Pancreatitis, Splenomegaly	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	Platyspondyly, Knee osteoarthritis	OMIM:154780
Atelosteogenesis, Type I	Fused cervical vertebrae, Vertebral hypoplasia, Coronal cleft vertebrae, Short neck, Thoracic pla...	OMIM:108720
Wilson Disease	Osteomalacia, Joint hypermobility, Osteoarthritis, Osteoporosis	OMIM:277900
Aspartylglucosaminuria	Beaking of vertebral bodies, Spondylolysis, Platyspondyly, Spondylolisthesis, Pathologic fracture...	OMIM:208400
Gm1 Gangliosidosis Type 1	Platyspondyly, Hypoplastic vertebral bodies, Beaking of vertebral bodies T12-L3	ORPHA:79255
Kyphomelic Dysplasia	Platyspondyly, Limitation of joint mobility	OMIM:211350
Myhre Syndrome	Enlarged vertebral pedicles, Limitation of joint mobility, Camptodactyly, Joint stiffness, Platys...	OMIM:139210
Malakoplakia	Orchitis, Follicular hyperplasia	ORPHA:556
Otopalatodigital Syndrome, Type Ii	Kyphoscoliosis, Spondylolysis, Platyspondyly, Wide anterior fontanel, Short neck, Sclerosis of sk...	OMIM:304120
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Shoulder flexion contracture, Elbow flexion contracture, Cleft v...	OMIM:210710
Opsismodysplasia	Scoliosis, Hypoplastic vertebral bodies, Hypoplasia of the odontoid process, Severe platyspondyly...	OMIM:258480
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Ovarian neoplasm, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormon...	ORPHA:100079
Spondylometaphyseal Dysplasia, Algerian Type	Kyphoscoliosis, Platyspondyly, Lumbar hyperlordosis	OMIM:184253
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Platyspondyly, Scoliosis, Ovoid vertebral bodies	ORPHA:85167
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Abnormal bone ossification, Lumbar scoliosis, Irregular vertebral endplates, Platyspondyly, Short...	ORPHA:99646
Cystinosis, Nephropathic	Rickets, Hypophosphatemic rickets	OMIM:219800
Fontaine Progeroid Syndrome	Wide anterior fontanel, Scoliosis, Coronal craniosynostosis, Platyspondyly, Craniosynostosis	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	Pheochromocytoma, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Parathyroid hyperplasi...	ORPHA:653
Yellow Fever	Jaundice, Acute pancreatitis, Leukocytosis, Neutrophilia, Thrombocytopenia, Pancreatic hyperplasia	ORPHA:99829
Plague	Lymphadenitis, Enlarged mesenteric lymph node, Splenomegaly, Hepatomegaly	ORPHA:707
African Trypanosomiasis	Jaundice, Hepatomegaly, Lymphadenopathy, Abnormal prolactin level, Hepatosplenomegaly, Splenomegaly	ORPHA:3385
Hypomagnesemia 3, Renal	Rickets	OMIM:248250
Generalized Arterial Calcification Of Infancy	Osteomalacia, Abnormal calcification of the carpal bones, Fused cervical vertebrae, Hypophosphate...	ORPHA:51608
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Abnormality of the vertebral column, Kyphosis, Camptodactyly of fi...	ORPHA:2273
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly	OMIM:263520
Pmm2-Cdg	Osteopenia, Kyphoscoliosis, Platyspondyly, Osteoporosis, Joint hypermobility, Multiple joint cont...	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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