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Gene: Tusc2 MGI:1931086

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

tumor suppressor 2, mitochondrial calcium regulator

Synonyms:

Fus1, 1190001E22Rik, Pdap2

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 Tusc2 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 Tusc2 (0 diseases)
Human diseases predicted to be associated with Tusc2 (1000 diseases)

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

The table below shows human diseases predicted to be associated to Tusc2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Systemic Lupus Erythematosus 16	Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibo...	OMIM:614420
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Complement Component 4A Deficiency	Vasculitis, Glomerulonephritis, Systemic lupus erythematosus	OMIM:614380
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, A...	OMIM:619375
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Rheumatoid factor positive, Elevated circulating C-reactive protein concentrat...	ORPHA:49041
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, P...	OMIM:301082
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Increased B cell count, Autoimm...	OMIM:615559
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Extracranial Carotid Artery Aneurysm	Autoimmunity, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total ...	ORPHA:494424
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Antiphospholipid antibody positivity, Rheumatoid factor positive, Eo...	OMIM:601859
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Autoimmunity, Micro...	ORPHA:567544
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Autoimmune Lymphoproliferative Syndrome, Type Iia	Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant...	OMIM:603909
Autoimmune Lymphoproliferative Syndrome	Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma,...	ORPHA:3261
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus	OMIM:613652
Thymoma	Myositis, Aplastic anemia, Pure red cell aplasia, Anti-acetylcholine receptor antibody positivity...	ORPHA:99867
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Antinuclear antibody...	ORPHA:93126
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Eczema, Eosinophilic infiltration of the esophagus, Subarachnoid hemorrhage,...	OMIM:243700
Chilblain Lupus	Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Skin rash, Rheumatoid...	ORPHA:90280
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
Glioma susceptibility 9	Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia	OMIM:616568
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Eczema, Myelodysplasia, Lymphoma, Systemic lupus eryth...	OMIM:616871
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea...	OMIM:152700
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Refractory anemia with ringed sideroblasts, Erythro...	OMIM:133180
Primary Erythromelalgia	Leukemia, Vasculitis	ORPHA:90026
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmunity, Autoimmune thrombocyt...	OMIM:614470
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Vasculitis, Hematuria, Arthritis,...	ORPHA:375
Junctional Epidermolysis Bullosa Inversa	Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Atrophic scars, Abn...	ORPHA:79405
Brucellosis	Liver abscess, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration,...	ORPHA:1304
Schnitzler Syndrome	Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphoma, Arthritis, Increased circulating IgM...	ORPHA:37748
Pgm3-Cdg	Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ...	ORPHA:443811
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Systemic lupu...	OMIM:613779
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neopl...	OMIM:614172
Lymphoproliferative Syndrome 3	Lymphoproliferative disorder, Hodgkin lymphoma, Hepatosplenomegaly, Decreased circulating antibod...	OMIM:618261
Simple Cryoglobulinemia	Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Myocardial infarction, Mesan...	ORPHA:91139
Milroy Disease	Abnormal venous morphology, Angiosarcoma, Varicose veins, Neoplasm of the skin, Cellulitis, Erysi...	ORPHA:79452
Late-Onset Junctional Epidermolysis Bullosa	Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Atrophic scars, Abn...	ORPHA:79406
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Acquired Ichthyosis	Renal insufficiency, Recurrent skin infections, Autoimmunity, Lymphoma, Neoplasm, Multiple myelom...	ORPHA:454
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Lymphoma, Monoclonal immuno...	OMIM:153600
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Splenomegaly, Fulminant hepatitis, Vasculiti...	OMIM:308240
Igg4-Related Kidney Disease	Rheumatoid factor positive, Lymphadenitis, Renal interstitial immunoglobulin deposits, Lymphocyto...	ORPHA:449395
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Telangiectasia of the skin, Squamous cell carcinoma, Atroph...	ORPHA:542592
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Autoimmunity, Lipodystrophy, Mesangial hyp...	ORPHA:329918
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu...	OMIM:613736
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Glomerulonephritis, Autoimmune thrombocytopenia, ...	OMIM:613496
Fanconi Anemia, Complementation Group G	Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia, Anemia	OMIM:614082
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Decreased ci...	OMIM:619802
Self-Improving Dystrophic Epidermolysis Bullosa	Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Atrophic scars, Abn...	ORPHA:79411
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Juvenile Temporal Arteritis	Eosinophilia, Allergic rhinitis, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia	ORPHA:26137
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Myelodysplasia, Antineutrophil anti...	ORPHA:486
Immunodeficiency 15B	Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Chronic oral candidiasis, ...	OMIM:615592
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Autoimmunity, Myelodysplasia, Leukocytosis, Multiple lineage myelodysplasia	ORPHA:98827
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
N Syndrome	Leukemia, Neoplasm, Hypospadias	OMIM:310465
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Anti-islet antigen-2 antibody positivity, T-cell acute lymphoblastic leukemias, Inc...	OMIM:620044
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Myelodysplasia, Epista...	OMIM:601399
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Hematuria, Nephrotic syndro...	OMIM:613913
Schimke Immuno-Osseous Dysplasia	Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Decreas...	ORPHA:1830
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ...	ORPHA:289390
Lymphedema, Primary, With Myelodysplasia	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Cellulitis, Leukemia, Decreased CD4:CD8 rat...	OMIM:614038
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Recurrent bacterial skin infections, Abnormally low T cell recep...	ORPHA:276
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati...	ORPHA:906
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias	OMIM:247640
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi...	OMIM:619281
Xeroderma Pigmentosum Variant	Keratitis, Squamous cell carcinoma, Telangiectasia, Melanoma, Basal cell carcinoma	ORPHA:90342
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Normocytic anemia, Pancytopenia, Myelodysplasia, Anemia of inadequate pro...	ORPHA:75564
Myeloproliferative Disorder, Chronic, With Eosinophilia	Malignant eosinophil proliferation, Eosinophilia, Myeloproliferative disorder	OMIM:131440
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma, Weight loss	ORPHA:2023
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Takayasu Arteritis	Increased inflammatory response, Hypertensive crisis, Myocardial infarction, Vasculitis, Arterial...	ORPHA:3287
Epidermodysplasia Verruciformis, Susceptibility To, 3	Basal cell carcinoma, Verrucae, Squamous cell carcinoma	OMIM:618267
Spermatogenic Failure 51	Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp...	OMIM:619177
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s...	OMIM:301059
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T l...	OMIM:618108
Spermatogenic Failure, X-Linked, 6	Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage...	OMIM:301101
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Breast carcinoma, Sarcoma	OMIM:609265
Immunodeficiency 23	Hemolytic anemia, Lymphopenia, Membranoproliferative glomerulonephritis, Rheumatoid factor positi...	OMIM:615816
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis	ORPHA:157991
Agammaglobulinemia 7, Autosomal Recessive	Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm...	OMIM:615214
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, A...	ORPHA:90033
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Lipodystrophy, Intestinal inflammation, C...	OMIM:619858
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Oropharyngeal squamous cell carcinoma, Medial calcification of large arteries, Functional abnorma...	ORPHA:391487
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Restrictive cardiomyopathy, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Werner Syndrome	Abnormal cerebral vascular morphology, Myocardial infarction, Squamous cell carcinoma, Neoplasm, ...	ORPHA:902
Spermatogenic Failure 25	Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia	OMIM:617960
Multiple Fibroadenomas Of The Breast	Fibroadenoma of the breast	OMIM:615554
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Alpha-Thalassemia-Myelodysplastic Syndrome	Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr...	ORPHA:231401
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Failure to thrive in infancy, Eczema, Oligoarthritis, T lymphocy...	OMIM:619510
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Spondyloenchondrodysplasia	Enchondroma, Autoimmune hemolytic anemia, Pancytopenia, Skin rash, Pneumonia, Autoimmunity, Autoi...	ORPHA:1855
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume, Myelodysplasia	OMIM:252270
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Angiosarcoma, Varicose veins, Aty...	ORPHA:90186
Recessive Dystrophic Epidermolysis Bullosa Inversa	Urethral stricture, Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma,...	ORPHA:79409
Idiopathic Pulmonary Hemosiderosis	Rheumatoid factor positive, Glomerulonephritis, Diffuse alveolar hemorrhage, Antinuclear antibody...	ORPHA:99931
Schöpf-Schulz-Passarge Syndrome	Ovarian neoplasm, Basal cell carcinoma, Facial telangiectasia, Squamous cell carcinoma	ORPHA:50944
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ...	ORPHA:529970
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase...	OMIM:304790
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Progressive...	OMIM:608709
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
Myeloproliferative Disease, Autosomal Recessive	Myeloproliferative disorder	OMIM:254700
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Q Fever	Rheumatoid factor positive, Abnormal left ventricular function, Cholecystitis, Lupus anticoagulan...	ORPHA:781
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimmune thrombocytopenia, Gastroint...	ORPHA:1572
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Autoinflammation With Infantile Enterocolitis	Failure to thrive, Pancytopenia, Skin rash, Diffuse alveolar hemorrhage, Thrombocytopenia, Spleno...	OMIM:616050
Essential Thrombocythemia	Prolonged bleeding time, Transient ischemic attack, Myocardial infarction, Abnormal cerebral vasc...	ORPHA:3318
Immunodeficiency 91 And Hyperinflammation	Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophi...	OMIM:619644
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Xeroderma Pigmentosum, Complementation Group F	Seborrheic keratosis, Flexion contracture, Keratoacanthoma, Squamous cell carcinoma, Basal cell c...	OMIM:278760
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor...	ORPHA:86841
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Mesangial hypercellularity, Antinuclear antibody positivity, Crescentic glomerulonephritis, Arthr...	OMIM:616414
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ...	OMIM:619041
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce...	ORPHA:3243
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis, Lipodystrophy, Cardiac shunt	OMIM:305800
Wt Limb-Blood Syndrome	Pancytopenia, Joint contracture of the 5th finger, Leukemia, Hypoplastic anemia, Thrombocytopenia	OMIM:194350
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Renal artery aneurysm, Portal hypertensio...	OMIM:615688
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Spermatogenic Failure 79	Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:620196
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Glomerulopathy, Vasculi...	ORPHA:183
Spermatogenic Failure, X-Linked, 5	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A...	OMIM:301099
Spermatogenic Failure 11	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Antinuclear antibody positivity, Cellulitis, Perinuclear antineutrophil antibody posit...	OMIM:617718
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Squamous cell carcinoma, Gastrointestinal inflammation, Atypical scarring of skin, Basal cell car...	ORPHA:79410
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom...	ORPHA:444463
Muckle-Wells Syndrome	Episcleritis, Skin rash, Camptodactyly of finger, Splenomegaly, Vasculitis, Uveitis, Arthritis, N...	ORPHA:575
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Immunodeficiency 54	Splenomegaly, Failure to thrive, Lymphoproliferative disorder, Reduced natural killer cell count	OMIM:609981
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology, Autoimmunity	OMIM:300622
Spermatogenic Failure 8	Azoospermia, Cryptozoospermia, Oligozoospermia	OMIM:613957
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Immunodeficiency 59 And Hypoglycemia	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:233600
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Liver kidney microsome type 1 antibody positivity, ...	ORPHA:2137
Disseminated Superficial Actinic Porokeratosis	Squamous cell carcinoma	ORPHA:79152
Listeriosis	Back pain, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivi...	ORPHA:533
Microscopic Polyangiitis	Episcleritis, Gastrointestinal hemorrhage, Increased inflammatory response, Sinusitis, Pericardit...	ORPHA:727
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I...	ORPHA:3226
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma...	ORPHA:2688
Rhabdoid Tumor	Renal neoplasm, Thrombocytopenia, Weight loss, Neoplasm of the central nervous system, Hypertensi...	ORPHA:69077
Spermatogenic Failure 22	Non-obstructive azoospermia, Male infertility, Cryptozoospermia	OMIM:617706
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Cheilitis Glandularis	Neoplasm, Squamous cell carcinoma	ORPHA:1221
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Boutonneuse Fever	Renal insufficiency, Skin rash, Maculopapular exanthema, Vasculitis, Leukopenia, Increased circul...	ORPHA:83313
Immunodeficiency 20	Recurrent otitis media, Reduced natural killer cell count, Recurrent sinusitis	OMIM:615707
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Failure to thrive in infancy, Lipodystrophy, Increased circulating IgA l...	OMIM:617099
Hyperkeratosis Lenticularis Perstans	Basal cell carcinoma, Squamous cell carcinoma	ORPHA:409
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent skin infections, Recurrent pneumonia, Increased circul...	OMIM:619752
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Amed Syndrome, Digenic	Acute myeloid leukemia, Myelodysplasia, Thrombocytopenia, Leukopenia, Persistent left superior ve...	OMIM:619151
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Myeloid leukemia, Pancytopenia, Aplastic anemia, Leukemia	OMIM:614743
Mismatch Repair Cancer Syndrome 2	Glioblastoma multiforme, T-cell acute lymphoblastic leukemias	OMIM:619096
Spermatogenic Failure 29	Non-obstructive azoospermia, Male infertility, Immotile sperm	OMIM:618091
Schopf-Schulz-Passarge Syndrome	Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma	OMIM:224750
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Ataxia-Pancytopenia Syndrome	Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Neutropenia, Hypoplastic anemia, A...	OMIM:159550
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia	OMIM:610738
Spermatogenic Failure 64	Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe...	OMIM:619696
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Cryptorchidism...	OMIM:612541
Epidermodysplasia Verruciformis	Telangiectasia of the skin, Recurrent skin infections, Seborrheic dermatitis, Pustule, Squamous c...	ORPHA:302
Pyoderma Gangrenosum	Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Atrophic scars, Rheumatoi...	ORPHA:48104
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Hernia, Leukemia, Meningioma	OMIM:602501
Glioma Susceptibility 3	Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med...	OMIM:613029
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Acne, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia...	ORPHA:3000
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis, Autoimmunity	OMIM:216950
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Dermatofibrosarcoma Protuberans	Fibrosarcoma, Neoplasm of the skin	ORPHA:31112
Immunodeficiency 101 (Varicella Zoster Virus-Specific)	Cerebral vasculitis	OMIM:619872
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, H...	ORPHA:228308
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hematolo...	ORPHA:98850
Thrombocytopenia 5	Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N...	OMIM:616216
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Lead Poisoning	Decreased HDL cholesterol concentration, Abnormal T cell morphology, Tubulointerstitial nephritis...	ORPHA:330015
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Skin rash, Autoimmunity, Proteinuria, Splenome...	ORPHA:36412
Isolated Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Elevated circulating creatine kinase concentration, Hyperlordosis, Cry...	ORPHA:408
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Neutrophilia, Myelodysplasia, Leukocytosis, Increased basoph...	ORPHA:98849
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Normocytic anemia, Renal insufficiency, Epistaxis, Abnormality of ne...	ORPHA:33226
Panniculitis-Induced Localized Lipodystrophy	Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Antinucle...	ORPHA:90159
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Anti-thyroid peroxidase antibody positivity, Tubulointerstitial nephritis, Iron deficie...	ORPHA:37042
Moyamoya Disease 1	Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia	OMIM:252350
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Weig...	ORPHA:679
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Hyperlordosis, Cryptorchidism, Arterial stenosis, Cerebral artery atherosclerosis, H...	ORPHA:1192
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Paronychia, Abnormal blood ion concentration, Renal cyst, Gastrointestinal in...	ORPHA:79404
Cutaneous Small Vessel Vasculitis	Recurrent skin infections, Vasculitis, Skin rash	ORPHA:889
Wiskott-Aldrich Syndrome	Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Nephropathy...	OMIM:301000
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Autoimmunity, An...	ORPHA:277
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Spermatogenic Failure 42	Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic...	OMIM:618745
Fanconi Anemia, Complementation Group P	Pancytopenia, Horseshoe kidney, Squamous cell carcinoma, Pelvic kidney, Anemia	OMIM:613951
Ichthyosis, Hystrix-Like, With Deafness	Squamous cell carcinoma, Scarring alopecia of scalp, Punctate keratitis, Erythroderma	OMIM:602540
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Autoimmunity, Myocardia...	ORPHA:221
Rheumatoid Arthritis	Rheumatoid factor positive, Vasculitis, Weight loss, Anti-citrullinated protein antibody positivi...	OMIM:180300
Recurrent Respiratory Papillomatosis	Failure to thrive, Recurrent pneumonia, Syncope, Squamous cell carcinoma	ORPHA:60032
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Oropharyngeal squamous cell carcinoma, Breast carcinoma, Telangiectasia, Facial telangiectasia, A...	OMIM:614564
Palmoplantar Carcinoma, Multiple Self-Healing	Carcinoma, Corneal neovascularization, Chronic rhinitis, Squamous cell carcinoma	OMIM:615225
Radiation Proctitis	Abnormal vascular morphology, Abnormal gastrointestinal vascular morphology, Hematochezia, Rectal...	ORPHA:70475
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
Takayasu Arteritis	Arteritis	OMIM:207600
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Wells Syndrome	Vasculitis, Eosinophilia, Cellulitis	ORPHA:901
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia	OMIM:616873
Immunodeficiency 36 With Lymphoproliferation	Autoimmunity, B-cell lymphoma, Splenomegaly, Bronchiectasis, Chronic lymphatic leukemia, Increase...	OMIM:616005
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ...	OMIM:276300
Systemic Lupus Erythematosus 17	Lymphopenia, Autoimmune thrombocytopenia, Raynaud phenomenon, Antinuclear antibody positivity, Th...	OMIM:301080
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Increased circulating IgM level, Failure...	OMIM:242860
Immunodeficiency 43	Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha...	OMIM:241600
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Vasculitis, Weight loss, Arthritis, Infl...	ORPHA:324964
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Systemic Sclerosis	Flexion contracture, Intestinal bleeding, Barrett esophagus, Abnormality of the kidney, Raynaud p...	ORPHA:90291
Macrophage Activation Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Autoimmunity,...	ORPHA:158061
Temporal Arteritis	Retinal arteritis	OMIM:187360
Vasculitis, Lymphocytic, Nodular	Nodular inflammatory vasculitis	OMIM:192310
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Buerger Disease	Vasculitis	ORPHA:36258
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Renal insufficiency, C...	ORPHA:31826
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Glomerulopathy, Proteinuria, S...	ORPHA:91138
Syndromic Recessive X-Linked Ichthyosis	Testicular seminoma, Renal insufficiency, Unilateral renal agenesis, Acute leukemia	ORPHA:281090
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell...	ORPHA:79140
Ollier Disease	Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Anemia, S...	ORPHA:296
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell count,...	ORPHA:331206
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Liver abscess, Severe periodontitis, Recurrent skin infect...	ORPHA:678
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Xeroderma Pigmentosum, Variant Type	Keratitis, Squamous cell carcinoma, Cutaneous telangiectasia, Basal cell carcinoma, Conjunctiviti...	OMIM:278750
Schimke Immunoosseous Dysplasia	Short neck, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentrat...	OMIM:242900
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Acute myeloid leukemia	OMIM:246470
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Chronic oral candidias...	OMIM:212050
Desmoid Tumor	Gastrointestinal hemorrhage, Abnormality of the upper urinary tract, Desmoid tumors, Neoplasm of ...	ORPHA:873
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Antinucl...	OMIM:620321
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Male infertility, Immotile sperm	OMIM:608653
Secondary Non-Traumatic Avascular Necrosis	Autoimmunity, Hematological neoplasm, Systemic lupus erythematosus, Neoplasm, Abnormality of conn...	ORPHA:399180
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Flexion contracture, Corneal scarring, Squamous cell carcinoma, Atrophic scars, Conjunctivitis, E...	OMIM:226600
Activated Pi3K-Delta Syndrome	Pneumonia, Autoimmunity, Splenomegaly, Lymphoma, Bronchiectasis, Decreased circulating antibody l...	ORPHA:397596
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat...	OMIM:616730
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Discoid lupus rash, A...	ORPHA:536
Spermatogenic Failure 24	Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce...	OMIM:617959
Storage Pool Platelet Disease	Prolonged bleeding time, Decreased mean platelet volume, Myelodysplasia, Acute leukemia	OMIM:185050
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal interstitial edem...	ORPHA:91500
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Rothmund-Thomson Syndrome	Telangiectasia of the skin, Skin rash, Small for gestational age, Myelodysplasia, Aplastic anemia...	ORPHA:2909
Bloom Syndrome	Decreased circulating IgG level, Small for gestational age, Elevated hemoglobin A1c, Lymphoma, Br...	OMIM:210900
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ...	ORPHA:79501
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Adult Acute Respiratory Distress Syndrome	Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Abnormal circula...	ORPHA:70578
Linear Iga Dermatosis	Renal neoplasm, Autoimmunity, Epistaxis, Bladder neoplasm, Inflammation of the large intestine	ORPHA:46488
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, Nephrotic syndrome, ...	OMIM:618999
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Hyperinsulinemia, Obesit...	ORPHA:3085
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou...	ORPHA:454840
Postinfectious Vasculitis	Rheumatoid factor positive, Gastrointestinal inflammation, Bacterial endocarditis, Membranoprolif...	ORPHA:48435
Igg4-Related Aortitis	Increased inflammatory response, Thoracic aortic aneurysm, Autoimmunity, Increased circulating Ig...	ORPHA:449400
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Preeclampsia	Increased body mass index, Small for gestational age, Autoimmunity, Proteinuria, Abnormality of t...	ORPHA:275555
Granulomatosis With Polyangiitis	Sinusitis, Granulomatosis, Otitis media, Chronic otitis media, Glomerulopathy, Ureteral stenosis,...	ORPHA:900
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Infectious encephalitis, I...	ORPHA:36234
Trichothiodystrophy 1, Photosensitive	Small for gestational age, Flexion contracture, Absence of subcutaneous fat, Squamous cell carcin...	OMIM:601675
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ...	ORPHA:477
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto...	ORPHA:86839
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Recurrent pneumonia, Decreased propor...	OMIM:619824
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Myelodysplasia, Splenomegaly, ...	ORPHA:71493
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona...	ORPHA:567548
Mast Cell Sarcoma	Sarcoma, Splenomegaly, Mastocytosis, Weight loss	ORPHA:66661
Acquired Partial Lipodystrophy	Glomerulopathy, Lipoatrophy, Autoimmunity, Proteinuria, Lymphocytosis, Microscopic hematuria	ORPHA:79087
Chromomycosis	Keratitis, Squamous cell carcinoma, Atypical scarring of skin, Keratoconjunctivitis sicca, Multip...	ORPHA:182
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Recurrent skin infections, Proteinuria, Paten...	ORPHA:33001
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Myelodysplasia, Myeloid leukemia, Anemia	OMIM:614742
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par...	ORPHA:163634
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Psoriasiform dermatitis, Unilateral renal agenesis, Arteria l...	ORPHA:221139
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, B-cell lymphoma, Autoimm...	OMIM:613011
Lig4 Syndrome	Pancytopenia, Psoriasiform dermatitis, Myelodysplasia, Telangiectasia, Acute lymphoblastic leukem...	OMIM:606593
Rothmund-Thomson Syndrome Type 1	Small for gestational age, Aplastic anemia, Myelodysplasia, Abnormal dental enamel morphology, Sq...	ORPHA:221008
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Prominent superficial veins, Small for gestational age, Kyphoscoliosis, Hyperlordosis, Increased ...	OMIM:616817
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Dilated card...	OMIM:618348
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Skin rash, Autoimmunity, Verrucae, Recurrent aphthous stomatitis...	ORPHA:275
Liposarcoma	Sarcoma, Varicose veins, Abnormality of the kidney, Weight loss	ORPHA:69078
Localized Scleroderma	Fasciitis, Autoimmunity, Abnormality of the kidney, Raynaud phenomenon, Vasculitis, Flexion contr...	ORPHA:90289
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Gastrointestinal inflammation, Conjunctivitis, Neutropenia, Abnormal penis morphology, Depression...	ORPHA:95455
Aicardi-Goutieres Syndrome 1	Antiphospholipid antibody positivity, Chilblains, Splenomegaly, Vasculitis, Cardiomyopathy, Throm...	OMIM:225750
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Autoimmunity, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Hypouricemia, Renal, 1	Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos...	OMIM:220150
Hemorrhagic Fever-Renal Syndrome	Increased circulating interleukin 6 concentration, Anuria, Acute tubulointerstitial nephritis, In...	ORPHA:340
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Antiphospholipid antibody positivity, Cardiac shunt, Autoimmunity, Pulmonary embol...	ORPHA:70591
Oral Submucous Fibrosis	Oropharyngeal squamous cell carcinoma, Flexion contracture, Cheilitis	ORPHA:357154
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, B-cell lymphoma...	OMIM:619381
Congenital Erythropoietic Porphyria	Anisocytosis, Scarring alopecia of scalp, Red-brown urine, Squamous cell carcinoma, Leukopenia, E...	ORPHA:79277
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Autoimmunity, Abnormality...	ORPHA:229717
Nasu-Hakola Disease	Abnormal adipose tissue morphology, Acute leukemia	ORPHA:2770
Infantile Myofibromatosis	Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Abnormality of the kidne...	ORPHA:2591
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Dna2-Related Mitochondrial Dna Deletion Syndrome	Decreased mitochondrial number, Hyperlordosis, Depression, Elevated creatine kinase after exercis...	ORPHA:352470
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Recurrent skin infections, Dilated cardiomyopathy, Flexion contracture, Squamous cell carcinoma, ...	ORPHA:89842
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Cernunnos-Xlf Deficiency	Autoimmunity, Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lympho...	ORPHA:169079
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
Cogan Syndrome	Aortic regurgitation, Episcleritis, Keratitis, Leukocytosis, Vasculitis, Uveitis, Large vessel va...	ORPHA:1467
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Thrombo...	ORPHA:47
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Perianal abscess...	OMIM:301074
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Systemic lupus erythemato...	ORPHA:760
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Dilation of Virchow-Robin spaces, Camptodactyly of finger, Myelodysplasia, Unilateral renal agene...	OMIM:619951
Immunodeficiency, Common Variable, 2	Autoimmunity, Splenomegaly, Recurrent pneumonia, Lymphoma, Bronchiectasis, Neoplasm, Conjunctivit...	OMIM:240500
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Recurrent urinary tract infections, Autoimmunity, Thromboc...	ORPHA:47612
Fanconi Anemia, Complementation Group D1	Acute myeloid leukemia, T-cell acute lymphoblastic leukemias	OMIM:605724
Hermansky-Pudlak Syndrome 2	Chronic oral candidiasis, Absent platelet dense granules, Prolonged bleeding time, Splenomegaly, ...	OMIM:608233
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Increased circulating IgG level, Inflammation of the large intestine, Inc...	ORPHA:98813
Ciliary Dyskinesia, Primary, 50	Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ...	OMIM:620356
Lig4 Syndrome	Hypoplasia of penis, Pancytopenia, Telangiectasia of the skin, Leukocytosis, Lymphoma, Acute leuk...	ORPHA:99812
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Pancytopenia, Hypospadias, Myelody...	OMIM:305000
Progressive Osseous Heteroplasia	Osteoarthritis, Sarcoma	ORPHA:2762
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Immunodeficiency 32B	Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,...	OMIM:226990
Neutrophilic Dermatosis, Acute Febrile	Increased circulating interleukin 6 concentration, Dilated cardiomyopathy, Anemia, Panniculitis, ...	OMIM:608068
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Ret...	OMIM:600901
Yellow Nail Syndrome	Renal neoplasm, Sinusitis, Nephropathy, Bronchiectasis, Neoplasm of the lung, Neoplasm, Rhinitis,...	ORPHA:662
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Foot join...	ORPHA:79408
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Abn...	OMIM:227650
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Oliguria, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Tuberous Sclerosis 2	Wolff-Parkinson-White syndrome, Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Absence ...	OMIM:613254
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody level,...	OMIM:619750
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure to thrive, Abnorma...	OMIM:615617
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Lympho...	ORPHA:90036
Bloom Syndrome	Paronychia, Uveitis, Otitis media, Decreased circulating IgG level, Male infertility, Decreased p...	ORPHA:125
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Testicular neoplasm, Cachexia, Weight loss, Neoplasm of the central ner...	ORPHA:83469
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Omenn Syndrome	Pneumonia, Autoimmunity, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Thyroiditis, Nephrot...	ORPHA:39041
Retinoblastoma	Glioma, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Lymphoma, Hyphema, Pineoblast...	ORPHA:790
Rothmund-Thomson Syndrome Type 2	Small for gestational age, Aplastic anemia, Myelodysplasia, Abnormal dental enamel morphology, Ly...	ORPHA:221016
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Aicardi Syndrome	Hiatus hernia, Recurrent pneumonia, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angio...	OMIM:304050
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Trichothiodystrophy	Congenital exfoliative erythroderma, Multiple joint contractures, Eczema, Absence of subcutaneous...	ORPHA:33364
Turcot Syndrome With Polyposis	Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma...	ORPHA:99818
Diffuse Alveolar Hemorrhage	Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Proteinuria, Anti...	ORPHA:90060
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Skin rash, Angina pecto...	ORPHA:93672
Giant Cell Arteritis	Pericarditis, Renal insufficiency, Epistaxis, Sudden cardiac death, Vasculitis, Weight loss, Hema...	ORPHA:397
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl...	OMIM:300200
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Hemochromatosis, Type 1	Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Congestive heart failure, Splenomegal...	OMIM:235200
Porphyria Due To Ala Dehydratase Deficiency	Ankle flexion contracture, Abnormal erythrocyte enzyme level, Increased urinary porphobilinogen, ...	ORPHA:100924
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Vulvar neoplasm, Vaginal neoplasm, Prote...	ORPHA:1018
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ...	ORPHA:247806
Sapho Syndrome	Psoriasiform dermatitis, Acne, Neoplasm of the skeletal system, Osteomyelitis, Skin rash, Pustule...	ORPHA:793
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Autoimmunity, Eczema, Megaloblastic anemia, Anem...	OMIM:617780
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Inguinal hernia, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasi...	OMIM:614376
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Chilblains, Pneumonia, Hematemesis...	OMIM:615846
Subacute Cutaneous Lupus Erythematosus	Antiphospholipid antibody positivity, Rheumatoid factor positive, Anti-histone antibody positivit...	ORPHA:163525
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Autoimmunity, Autoimmune antibody positivity, Systemic lupus erythematosus,...	ORPHA:411593
Diamond-Blackfan Anemia	Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, Neutropenia, Adenoca...	ORPHA:124
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Abnormality of the spleen, Myeloproliferative disorder, Hypotension,...	ORPHA:79456
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Myocardial necrosis, Pancytopenia, Myelodysplasia, Thrombocytopenia, Neph...	OMIM:260400
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Fle...	OMIM:227645
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Monocytope...	OMIM:618986
King-Denborough Syndrome	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Short n...	OMIM:619542
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Bone marrow hyp...	OMIM:620133
Ck Syndrome	Hyperlordosis, Kyphosis, Irritability, Scoliosis, Pachygyria, Slender build, Polymicrogyria	OMIM:300831
Kindler Epidermolysis Bullosa	Urethral stricture, Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly o...	ORPHA:2908
Cataract-Intellectual Disability-Hypogonadism Syndrome	Hypogonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Low posterior hairline, Scoliosis, ...	ORPHA:1387
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Autoimmunity, Lymphocytic inters...	OMIM:618495
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Catastrophic Antiphospholipid Syndrome	Myocardial infarction, Pulmonary embolism, Lupus anticoagulant, Abnormal jugular vein morphology,...	ORPHA:464343
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level	OMIM:609529
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hypertension, Throm...	ORPHA:79124
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Myelodysplasia, Portal hypertension, Thrombocytopenia, Squamous cell carcinoma of the skin, Lymph...	OMIM:620365
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Kikuchi-Fujimoto Disease	Skin rash, Pustule, Myocarditis, Antinuclear antibody positivity, Vasculitis, Thrombocytopenia, S...	ORPHA:50918
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Obesity...	ORPHA:251004
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Lumbar hyperlordosis, External genital hypoplasia, Thoracolumbar scoliosis, Kyphoscoliosis, Front...	ORPHA:3041
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Myelodysplasia, Neutropenia, Lymp...	OMIM:617827
Immunodeficiency 27A	Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi...	OMIM:209950
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Myelodysplasia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pne...	OMIM:127550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Elevated circulating creatine kinase concentration, Hyperlordosis, Cryptorchidism, Scoliosis, Lef...	OMIM:613156
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyphosis, Sho...	OMIM:300718
Crome Syndrome	Renal tubular epithelial necrosis	OMIM:218900
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Keratitis, Elbow flexion contracture, Corneal scarring, Knee...	OMIM:148210
Coccidioidomycosis	Abnormality of the spleen, Increased circulating IgG level, Morbilliform rash, Abscess, Abnormali...	ORPHA:228123
Gardner Syndrome	Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M...	ORPHA:79665
Lysinuric Protein Intolerance	Tubulointerstitial nephritis, Leukopenia, Renal fibrosis, Decreased glomerular filtration rate, H...	ORPHA:470
Autosomal Recessive Spastic Paraplegia Type 46	Urinary incontinence, Abnormal sperm head morphology, Infertility, Scoliosis, Abnormal sperm morp...	ORPHA:320391
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Skin...	OMIM:300400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	OMIM:600802
Spondylometaphyseal Dysplasia, Axial	Splenomegaly, Recurrent pneumonia, Platyspondyly, Scoliosis, Reduced sperm motility	OMIM:602271
Intermediate Uveitis	Anterior uveitis, Psoriasiform dermatitis, Macular scar, Vasculitis, Tubulointerstitial nephritis...	ORPHA:279914
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Thrombocytopenia, Pat...	OMIM:227646
Ck Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Irritability, Abnormal circulating cholesterol concentratio...	ORPHA:251383
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune...	ORPHA:572
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Reduced subcutaneous adipose tissue, Renal insufficiency, M...	OMIM:137940
Mucous Membrane Pemphigoid	Atypical scarring of skin, Autoimmunity	ORPHA:46486
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos...	OMIM:308700
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Eczema, Camptodactyly of finger, Abnormal preputium morphology, Pustu...	ORPHA:2907
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, Hematological neoplasm...	ORPHA:824
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Glomerulopathy, Acn...	ORPHA:117
Ovarian Fibrothecoma	Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis	ORPHA:314478
Juvenile Arthritis	Antinuclear antibody positivity, Thrombocytosis, Leukocytosis, Skin rash	OMIM:618795
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Neurofibr...	ORPHA:137605
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Peritonitis, Vasculitis, Le...	ORPHA:32960
Eosinophilopenia	Decreased eosinophil count, Autoimmunity, Allergic rhinitis	OMIM:131430
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Subcutaneous panniculit...	OMIM:618398
Kawasaki Disease	Pericarditis, Skin rash, Proteinuria, Congestive heart failure, Myocarditis, Vasculitis, Leukocyt...	ORPHA:2331
Familial Mediterranean Fever	Pericarditis, Skin rash, Proteinuria, Myocardial infarction, Orchitis, Splenomegaly, Osteoarthrit...	ORPHA:342
Terminal Osseous Dysplasia	Camptodactyly of toe, Fibroma, Multiple joint contractures, Camptodactyly of finger	OMIM:300244
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea...	ORPHA:1916
Myosclerosis, Autosomal Recessive	Lumbar hyperlordosis, Thoracolumbar scoliosis, Elevated circulating creatine kinase concentration...	OMIM:255600
Hyperzincemia With Functional Zinc Depletion	Vasculitis, Skin rash	OMIM:601979
Rigid Spine Syndrome	Pneumonia, Cardiac conduction abnormality, Hyperlordosis, Spinal rigidity, Scoliosis	ORPHA:97244
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis	OMIM:615761
Immunodeficiency 22	Decreased circulating IgG level, Pericarditis, Autoimmunity, Abscess, Thrombocytopenia, Capillary...	OMIM:615758
Shwachman-Diamond Syndrome	Acute myeloid leukemia, Normocytic anemia, Macrocytic anemia, Sinusitis, Skin rash, Eczema, Myelo...	ORPHA:811
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Lymphom...	ORPHA:647
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Acute myeloid leukemia, Chronic myelomonocytic leukemia	OMIM:616604
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis, Kyphosis, Sco...	OMIM:617404
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Familial Adenomatous Polyposis 1	Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor...	OMIM:175100
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Lymphopenia, Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract...	OMIM:613179
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Idiopathic Hypereosinophilic Syndrome	Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Neutrophilia, Myelodysplasia, ...	ORPHA:3260
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Increased circulating IgA level, Peritonitis, Vasculitis, Arthritis,...	ORPHA:343
Joubert Syndrome 37	Lumbar hyperlordosis, Cryptorchidism, Obesity, Hydronephrosis, Sparse hair, Micropenis, Decreased...	OMIM:619185
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Squamous cell carcinoma	OMIM:618373
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum testosterone concentration, Hypertriglyceridemia, Hypergonadotropic hypogonadism,...	ORPHA:179494
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Pulmonic stenosis	OMIM:613224
Retinoblastoma	Lymphoma, Vitreous hemorrhage, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis	ORPHA:86843
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Spond...	OMIM:600561
Colorectal Cancer, Susceptibility To, 12	Carcinoma	OMIM:615083
Kallmann Syndrome With Spastic Paraplegia	Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog...	OMIM:308750
Cystic Echinococcosis	Abscess, Eosinophilia, Renal cyst, Weight loss, Membranous nephropathy, Increased circulating ant...	ORPHA:400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis	OMIM:600175
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Increased circulatin...	ORPHA:2298
Ataxia-Telangiectasia	Conjunctival telangiectasia, Sinusitis, Lymphoma, Bronchiectasis, Hodgkin lymphoma, Acute lymphob...	OMIM:208900
Inclusion Body Myositis	Autoimmunity	ORPHA:611
Neurofibromatosis Type 1	Astrocytoma, Abnormality of the upper urinary tract, Arterial stenosis, Chronic myelogenous leuke...	ORPHA:636
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut...	ORPHA:2232
Congenital Factor Xiii Deficiency	Epistaxis, Cerebral hemorrhage, Inflammation of the large intestine, Myeloid leukemia, Joint hemo...	ORPHA:331
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Obesity, Scoliosis	OMIM:616756
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level...	ORPHA:169154
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Abnormal internal carotid artery morphology, Pheochrom...	ORPHA:97685
Intellectual Developmental Disorder, Autosomal Dominant 52	Lumbar hyperlordosis, Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Overwe...	OMIM:617796
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure ...	OMIM:618963
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Congenital Myopathy 2A, Typical, Autosomal Dominant	Spinal rigidity, Hyperlordosis, Dilated cardiomyopathy, Scoliosis, Slender build, Mildly elevated...	OMIM:161800
Pediatric Systemic Lupus Erythematosus	Myositis, Leukopenia, Lupus anticoagulant, Nephritis, Raynaud phenomenon, Nephrotic syndrome, Mic...	ORPHA:93552
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Embryonal rhabdomyosarcoma, Renal cyst, Micropenis, Pu...	OMIM:257300
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane...	OMIM:243150
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Diabetes mellitus, Hypogonadotropic hypogonadism, Por...	ORPHA:465508
Three M Syndrome 1	Small for gestational age, Hypospadias, Short neck, Hyperlordosis, Increased vertebral height, Sp...	OMIM:273750
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Ciliary Dyskinesia, Primary, 41	Bronchiectasis, Infertility, Recurrent sinusitis, Immotile sperm, Recurrent otitis media	OMIM:618449
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Frontal balding, Oligozoospermia...	OMIM:602668
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Glomerulonephritis, Myocardial infarct...	ORPHA:90068
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Patent ductus arteriosus, Coarctation of aorta,...	OMIM:605275
Immunoglobulin A Vasculitis	Episcleritis, Gastrointestinal hemorrhage, Renal insufficiency, Glomerulopathy, Skin rash, Protei...	ORPHA:761
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Abnormality of the kidney, Antinuclear antibody positivity, Systemic lupus erythema...	OMIM:609939
Cryptococcosis	Lymphoid leukemia, Osteomyelitis, Pneumonia, Autoimmunity, Peritonitis, Systemic lupus erythemato...	ORPHA:1546
Livedoid Vasculopathy	Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Abnormal capillary morphol...	ORPHA:542643
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Cowden Syndrome	Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Papilloma, Conjunctiva...	ORPHA:201
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ...	ORPHA:481
Satoyoshi Syndrome	Hyperlordosis, Abnormal hair morphology, Nephrogenic diabetes insipidus, Hypoplasia of the uterus...	ORPHA:3130
Aicardi-Goutières Syndrome	Enchondroma, Myositis, Multiple joint contractures, Lipoatrophy, Chilblains, Autoimmunity, Neonat...	ORPHA:51
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Shortened Q...	ORPHA:99880
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Thrombocytopenia, Persistence of h...	OMIM:617052
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Cryptorchidism, Oligozoospermia, Pyelonephritis, Varicose veins, Nephri...	OMIM:314300
Basal Cell Nevus Syndrome 2	Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma	OMIM:620343
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Shortened Q...	ORPHA:143
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma	ORPHA:626
Drug-Induced Lupus Erythematosus	Pericarditis, Antinuclear antibody positivity, Thrombocytopenia, Autoimmune antibody positivity, ...	ORPHA:231111
Systemic Capillary Leak Syndrome	Pericarditis, Renal insufficiency, Myocarditis, Leukocytosis, Oliguria, Weight loss, Hypotension,...	ORPHA:188
Diastrophic Dysplasia	Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscoliosis, Scoliosis, Hy...	OMIM:222600
Nemaline Myopathy 5C, Autosomal Dominant	Slender build, Scoliosis, Hyperlordosis	OMIM:620389
Gapo Syndrome	Alopecia, Sparse eyelashes, Dysmenorrhea, Abnormal cerebral vascular morphology, Sparse eyebrow, ...	ORPHA:2067
Spondyloenchondrodysplasia With Immune Dysregulation	Increased intervertebral space, T lymphocytopenia, Irregular vertebral endplates, Neutropenia, Ju...	OMIM:607944
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Kyphosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis	OMIM:615290
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte...	ORPHA:2522
Rothmund-Thomson Syndrome, Type 2	Small for gestational age, Squamous cell carcinoma, Telangiectasia, Basal cell carcinoma, Osteosa...	OMIM:268400
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration	ORPHA:280333
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Gm1 Gangliosidosis	Hyperlordosis, Congestive heart failure, Patent ductus arteriosus, Splenomegaly, Kyphosis, Abnorm...	ORPHA:354
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Neutropenia in pr...	OMIM:615952
Anauxetic Dysplasia 2	Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin...	OMIM:617396
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent...	ORPHA:563
Attenuated Familial Adenomatous Polyposis	Astrocytoma, Uterine leiomyoma, Multiple renal cysts, Papilloma, Thyroid adenoma, Adenocarcinoma ...	ORPHA:220460
Mucolipidosis Type Iii	Acne, Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:577
Paraneoplastic Pemphigus	B-cell lymphoma, Thymoma, Sarcoma	ORPHA:63455
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,...	OMIM:263400
Immunodeficiency 7	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypereosinophilia, Neutropenia, Chronic ...	OMIM:615387
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Knee osteoar...	ORPHA:2035
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Antiphospholipid antibody positivity, Macrocytic anemia, Autoimmunity, Autoim...	ORPHA:227990
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Spinal rigidity, Hyperlordosis, Congestive heart failure, Arrhythmia	ORPHA:157973
Leukemia, Chronic Myeloid	Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia	OMIM:608232
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteomyelitis leading to amputation due to slow healing fractures, Fibrosarcoma, Histiocytoma, Os...	OMIM:112250
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Acne, Frontal balding, Precocious puberty,...	ORPHA:786
Subcorneal Pustular Dermatosis	Autoimmunity, Pustule, Systemic lupus erythematosus, Rheumatoid arthritis, Multiple myeloma	ORPHA:48377
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Sinusitis, Severe B lymphocytopenia, B-cell lymphoma, Autoimmune thr...	OMIM:102700
Goodpasture Syndrome	Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul...	OMIM:233450
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,...	OMIM:609223
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Autoimmunity, Decreased response to growth hormone stimulation test, Precocious pub...	ORPHA:91354
Striatonigral Degeneration, Childhood-Onset	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration	OMIM:617054
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Juvenile Xanthogranuloma	Hyphema, Uveitis, Myeloproliferative disorder, Iritis, Blepharitis	ORPHA:158000
Dyskeratosis Congenita, Digenic	Decreased circulating IgG level, Decreased circulating total IgM, Melanoma, Basal cell carcinoma,...	OMIM:620040
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Leukopenia, Hash...	ORPHA:227982
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Familial Adenomatous Polyposis	Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad...	ORPHA:733
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Autoimmunity, Autoimmune hypoparathyroidism, Auto...	ORPHA:36913
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hyperlordosis, Increased circulatin...	OMIM:600462
Myasthenic Syndrome, Congenital, 5	Anti-acetylcholine receptor antibody positivity, Scoliosis, Hyperlordosis	OMIM:603034
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D...	OMIM:619975
Tuberous Sclerosis Complex	Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, Renal cyst, Pheoc...	ORPHA:805
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Hypogonadism, ...	OMIM:618165
Tuberous Sclerosis 1	Wolff-Parkinson-White syndrome, Chordoma, Dental enamel pits, Astrocytoma, Ependymoma, Gingival f...	OMIM:191100
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Short neck, Bilateral cryptorchidism, Cryptorchid...	OMIM:305400
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Small scrotum, Highly arched eyebrow, Hyperlordosis, Synophrys, Abnormality of the uret...	ORPHA:3253
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Depression, Slender build, Elevated circulating creatine kinase concentration, Hyperlordosis	OMIM:615156
Overlap Myositis	Autoimmunity, Abnormality of the kidney, Raynaud phenomenon, Antinuclear antibody positivity, Sys...	ORPHA:206572
Ring Chromosome 12 Syndrome	Lumbar hyperlordosis, Small for gestational age, Acne, Cryptorchidism, Glandular hypospadias, Ute...	ORPHA:1439
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki...	ORPHA:567546
Familial Glucocorticoid Deficiency	Decreased circulating cortisol level, Renal salt wasting, Leydig cell neoplasia, Hyponatremia, Im...	ORPHA:361
Glycogen Storage Disease Due To Acid Maltase Deficiency	Transient ischemic attack, Thoracic aortic aneurysm, Abnormal internal carotid artery morphology,...	ORPHA:365
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia	OMIM:300299
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Meg...	OMIM:222300
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Scoliosis, Hyperlordosis	OMIM:611067
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Ciliary Dyskinesia, Primary, 14	Male infertility, Absent inner dynein arms, Recurrent pneumonia, Abnormal axonemal organization o...	OMIM:613807
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Autoimmunity, Pneumonia, Splenomegaly, Amelogenesis imperfecta, Neoplasm, Chron...	ORPHA:169090
Majeed Syndrome	Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Proteinuria, Cachexia,...	ORPHA:77297
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Lumbar hyperlordosis, Scoliosis	OMIM:602484
Spinal Muscular Atrophy, Infantile, James Type	Lumbar hyperlordosis, Scoliosis	OMIM:619042
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration	OMIM:313200
Xeroderma Pigmentosum, Complementation Group C	Keratitis, Telangiectasia, Basal cell carcinoma, Conjunctivitis, Squamous cell carcinoma of the s...	OMIM:278720
Metaphyseal Chondrodysplasia, Spahr Type	Scoliosis, Hyperlordosis	ORPHA:2501
Schwartz-Jampel Syndrome, Type 1	Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short neck, Elevated circulating creatin...	OMIM:255800
Ciliary Dyskinesia, Primary, 46	Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Reduced sperm m...	OMIM:619436
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	T lymphocytopenia, Hypothyroidism, Alopecia universalis, Hemolytic anemia, Psoriasiform dermatiti...	OMIM:606367
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Multicystic kidney dysplasia, Vaginal neoplasm, Rhabdomyosarcoma, Myelodysp...	ORPHA:1052
Congenital Myopathy 16	Lumbar hyperlordosis, Scoliosis, Spinal rigidity	OMIM:618524
Xeroderma Pigmentosum, Complementation Group E	Keratitis, Telangiectasia, Melanoma, Basal cell carcinoma, Conjunctivitis, Squamous cell carcinom...	OMIM:278740
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Thoracic scoliosis, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Con...	ORPHA:206546
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi...	ORPHA:85138
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Ret...	ORPHA:90340
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short neck, Abnormal sacrum morphology, Spina bifida occulta, Vertebral segmentati...	ORPHA:1797
Myopathy, Distal, 1	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy,...	OMIM:160500
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Sinusitis, Decreased proportion of naive T cells, Pneumonia, Autoimmunity, Apl...	ORPHA:83471
Spastic Paraplegia 87, Autosomal Recessive	Lumbar hyperlordosis	OMIM:619966
Relapsing Polychondritis	Episcleritis, Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, Chondritis of pinna...	ORPHA:728
Myasthenic Syndrome, Congenital, 16	Anti-acetylcholine receptor antibody positivity, Hyperlordosis	OMIM:614198
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Hyperlordosis	OMIM:607088
Pediatric-Onset Graves Disease	Anti-thyroid peroxidase antibody positivity, Thyrotoxicosis with diffuse goiter, Increased circul...	ORPHA:525731
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Recurrent pneumonia, ...	OMIM:610163
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az...	ORPHA:48
Nemaline Myopathy 2	Spinal rigidity, Hyperlordosis, Scoliosis, Slender build, Mildly elevated creatine kinase	OMIM:256030
Refractory Celiac Disease	Normocytic anemia, Inflammatory abnormality of the skin, Macrocytic anemia, Microcytic anemia, In...	ORPHA:398063
Neonatal Lupus Erythematosus	Prolonged QT interval, Hemolytic anemia, Pancytopenia, Maculopapular exanthema, Skin rash, Aplast...	ORPHA:398124
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertension, Autoimmunity, Hyper...	ORPHA:228426
Hughes-Stovin Syndrome	Pulmonary embolism, Vasculitis, Arterial stenosis, Pulmonary artery aneurysm, Pulmonary arterial ...	ORPHA:228116
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Hyperlordosis	ORPHA:363454
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati...	OMIM:613327
Limited Cutaneous Systemic Sclerosis	Foot joint contracture, Telangiectasia of the skin, Autoimmunity, Pulmonary arterial hypertension...	ORPHA:220402
Brachydactylous Dwarfism, Mseleni Type	Increased inflammatory response, Autoimmunity, Knee osteoarthritis, Hip osteoarthritis, Osteoarth...	ORPHA:2619
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Short neck, Knee osteoarthritis, T...	ORPHA:93284
Glossopharyngeal Neuralgia	Autoimmunity, Schwannoma, Jaw claudication, Weight loss, Syncope, Neoplasm, Bradycardia, Vascular...	ORPHA:221098
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Kyphoscoliosis, Hyperlordosis, Obesity, Truncal obesity, Coronal cleft vertebrae, Irregular verte...	OMIM:618363
Oculoskeletodental Syndrome	Hypercalcemia, Hyperlordosis, Nephrocalcinosis, Abnormality of the frontal hairline, Thoracic kyp...	ORPHA:557003
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Lumbar hyperlordosis, Abnormal macrophage morphology, Elevated circulating creatine kinase concen...	ORPHA:353
Antisynthetase Syndrome	Aortic regurgitation, Myositis, Skin rash, Telangiectasia of the skin, Autoimmunity, Myocarditis,...	ORPHA:81
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Failure to thrive in infancy, Autoim...	OMIM:613385
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Skin rash, Gastrointestinal stroma tumor, Esophageal neoplasm, Anemi...	ORPHA:44890
Relapsing Fever	Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Hematuria, Leukopenia, Prol...	ORPHA:91547
Myotonic Dystrophy 1	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Frontal balding, Hypogo...	OMIM:160900
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Hypoplastic sacrum, Small for gestational age, Diabetes mellitus, Oligozoospermia, Clitoral hypop...	OMIM:614813
Familial Anetoderma	Lumbar hyperlordosis	ORPHA:228277
Congenital Disorder Of Glycosylation, Type Iiw	Inguinal hernia, Membranoproliferative glomerulonephritis, Microscopic hematuria, Microcytic anem...	OMIM:619525
Cohen Syndrome	Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Decreased response to growth...	OMIM:216550
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Thoracic scoliosis, Elevated circulating creatine kinase concentration, Hyperlordosis	ORPHA:62
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Abnormal dental enamel morphology, W...	ORPHA:79430
Febrile Infection-Related Epilepsy Syndrome	Sinusitis, Autoimmunity	ORPHA:163703
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Hyperlordosis, Kyphosis, Scoliosis, Failure to thrive, Mildly elevated creatine k...	ORPHA:536516
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Short neck, Leukopenia, Conjunctivitis, Thoracic kyphosis, Hypoalbuminemia, Decreased circulating...	ORPHA:505248
Ciliary Dyskinesia, Primary, 12	Bronchiectasis, Abnormal central microtubular pair morphology of respiratory motile cilia, Chroni...	OMIM:612650
Diabetes Mellitus, Ketosis-Prone	Autoimmunity	OMIM:612227
Mulchandani-Bhoj-Conlin Syndrome	Failure to thrive, Horseshoe kidney, Scoliosis, Hyperlordosis	OMIM:617352
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase ...	ORPHA:98855
Idiopathic Chronic Eosinophilic Pneumonia	Autoimmunity, Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Atopic dermatitis...	ORPHA:2902
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase ...	ORPHA:98863
Renal Cysts And Diabetes Syndrome	Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ...	OMIM:137920
Primary Ciliary Dyskinesia	Male infertility, Abnormal sperm motility, Female infertility, Asplenia, Bronchiectasis, Anomalou...	ORPHA:244
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Nail dystrophy, Bone marrow hypocellularity, Testicular atrophy, Thrombocytopenia	OMIM:613987
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Auto...	ORPHA:809
Hypochondroplasia	Hyperlordosis, Osteoarthritis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Scol...	ORPHA:429
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hypoparathyroidis...	ORPHA:199299
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Schwannoma, Hypochromic microcytic anemia, Hepatosp...	ORPHA:96123
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Sc...	OMIM:606612
Chromosome 10Q26 Deletion Syndrome	Small scrotum, Small for gestational age, Lumbar hyperlordosis, Short neck, Cryptorchidism, Paten...	OMIM:609625
Down Syndrome	Umbilical hernia, Acute megakaryocytic leukemia, Renal hypoplasia/aplasia	ORPHA:870
Emery-Dreifuss Muscular Dystrophy	Back pain, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase ...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase ...	ORPHA:98853
Multiple Endocrine Neoplasia Type 4	Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cell adenoma, Carcinoid ...	ORPHA:276152
Lmna-Related Cardiocutaneous Progeria Syndrome	Lipoatrophy, Congestive heart failure, Pulmonary carcinoid tumor, Intracranial hemorrhage, Hypert...	ORPHA:363618
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytokine signaling, Ane...	ORPHA:158048
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, F...	OMIM:264180
Acquired Generalized Lipodystrophy	Acute pancreatitis, Astrocytoma, Proteinuria, Autoimmunity, Lymphoma, Abnormal cardiovascular sys...	ORPHA:79086
Mucolipidosis Iii Gamma	Aortic regurgitation, Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, S...	OMIM:252605
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Sparse body hair, Hyperlordosis	ORPHA:3068
Cowden Syndrome 1	Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Carcinoma, Hamartomatous polyposis, De...	OMIM:158350
Dubowitz Syndrome	Hypospadias, Eczema, Abnormality of neutrophils, Thrombocytopenia, Lymphoma, Acute lymphoblastic ...	ORPHA:235
Tempi Syndrome	Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage, Increased circulating IgG lev...	ORPHA:284227
3M Syndrome	Hypospadias, Abnormal cerebral vascular morphology, Short neck, Hyperlordosis, Increased vertebra...	ORPHA:2616
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Cachexia, Arteriosclerosis, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of...	ORPHA:220295
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Short neck, Low anterior hairline, Generalize...	ORPHA:800
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Abnormality of the ...	ORPHA:99642
Acute Adrenal Insufficiency	Normocytic anemia, Decreased circulating cortisol level, Myocardial infarction, Renal salt wastin...	ORPHA:95409
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pineal cyst, Vesicouret...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pineal cyst, Vesicouret...	ORPHA:363958
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Acrocapitofemoral Dysplasia	Ovoid vertebral bodies, Hyperlordosis, Broad nail, Small nail, Scoliosis	ORPHA:63446
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:161200
Braddock-Carey Syndrome 1	Curly hair, Multicystic kidney dysplasia, Hyperlordosis, Sparse hair, Thrombocytopenia	OMIM:619980
Absence Deformity Of Leg-Cataract Syndrome	Scoliosis, Hyperlordosis	ORPHA:2310
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Cardiomyopathy, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal ...	OMIM:609308
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Abnormality of chromosom...	ORPHA:175
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Incr...	ORPHA:85410
Dubowitz Syndrome	Inguinal hernia, Hypospadias, Eczema, Aplastic anemia, Lymphoma, Acute lymphoblastic leukemia, Ot...	OMIM:223370
Myasthenia, Limb-Girdle, Autoimmune	Neoplasm, Hashimoto thyroiditis, Thymoma, Systemic lupus erythematosus	OMIM:159400
Nemaline Myopathy 7	Lumbar hyperlordosis, Kyphoscoliosis	OMIM:610687
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Lumbar hyperlordos...	OMIM:250250
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps...	ORPHA:183675
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Hype...	OMIM:615980
Chime Syndrome	Abnormality of the kidney, Acute leukemia, Transposition of the great arteries, Tetralogy of Fall...	ORPHA:3474
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Spinal rigidity, Elevated circulating creatine kinase concentration, Hyperlordosis	ORPHA:267
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Inguinal hernia, Pulmonary arte...	OMIM:280000
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased intervertebral space, T lymphocytopenia, Decreased circulating IgG level, Abnormality o...	ORPHA:508533
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease...	ORPHA:730
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm...	ORPHA:293978
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Bronch...	OMIM:617091
Acute Promyelocytic Leukemia	Acute promyelocytic leukemia	OMIM:612376
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pulmonary capillary hemangiomatosis, Spinal hemangioblastoma, Papillary...	OMIM:193300
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig...	ORPHA:91351
Arthrogryposis, Distal, Type 3	Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Cryptorchidism, Scoliosis	OMIM:114300
Immunodeficiency 92	Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-switched memor...	OMIM:619652
Ciliary Dyskinesia, Primary, 26	Absent outer dynein arms, Bronchiectasis, Rhinitis, Infertility, Recurrent sinusitis, Recurrent o...	OMIM:615500
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, Perisylvian polymicrogyria, Obesity,...	OMIM:618443
Crisponi/Cold-Induced Sweating Syndrome 2	Lumbar hyperlordosis, Thoracolumbar scoliosis	OMIM:610313
Carney Complex	Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn...	ORPHA:1359
Multiple Acyl-Coa Dehydrogenase Deficiency	Acute pancreatitis, Elevated circulating creatine kinase concentration, Hyperlordosis, Elevated c...	ORPHA:26791
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Hyperlordosis, Renal hypoplasia/aplasia, Cryptorchidism, Kyphosis, Scol...	ORPHA:568
Myasthenia Gravis	Hemolytic anemia, Myositis, Pure red cell aplasia, Raynaud phenomenon, Anti-acetylcholine recepto...	ORPHA:589
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Emotional lability, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration	ORPHA:435387
Hallermann-Streiff Syndrome	Sparse scalp hair, Small for gestational age, Sparse eyelashes, Hyperlordosis, Sparse eyebrow, Cr...	OMIM:234100
Xeroderma Pigmentosum, Complementation Group A	Keratitis, Telangiectasia, Melanoma, Squamous cell carcinoma of the skin, Conjunctivitis	OMIM:278700
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, Abnormal form of the vertebral bodies, Low p...	ORPHA:2789
Ellis Van Creveld Syndrome	Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm...	ORPHA:289
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent skin infections, Scarring, Decreased circulating antibody level, Atrophic scars, Squamo...	ORPHA:79396
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Abnormal circulating C-reactive protein concentration, Rheumato...	ORPHA:1159
Usmani-Riazuddin Syndrome, Autosomal Dominant	Lumbar hyperlordosis, Thoracic kyphosis, Depression	OMIM:619467
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Inguinal hernia, Hypospadias, Nephroblastoma, Ependymoma, Recurrent pneu...	ORPHA:798
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Renal insufficiency, Sudden cardiac death, Leuko...	ORPHA:764
Acromesomelic Dysplasia, Grebe Type	Sarcoma	ORPHA:2098
Down Syndrome	Pulmonary artery stenosis, Patent ductus arteriosus, Partial anomalous pulmonary venous return, M...	OMIM:190685
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Splenomegaly, Juvenile rheumatoid arthritis	ORPHA:85414
Martsolf Syndrome 1	Thoracic scoliosis, Lumbar hyperlordosis, Hypogonadotropic hypogonadism, Cardiac arrest, Congesti...	OMIM:212720
Poland Syndrome	Duplicated collecting system, Hypospadias, Congenital diaphragmatic hernia, Renal hypoplasia/apla...	ORPHA:2911
Von Hippel-Lindau Disease	Back pain, Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Abnormal ...	ORPHA:892
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Autoimmunity, Raynaud phenomenon, Autoimmune antibody positivity, Bronchiectas...	ORPHA:79128
Ciliary Dyskinesia, Primary, 11	Bronchiectasis, Abnormal central microtubular pair morphology of respiratory motile cilia, Recurr...	OMIM:612649
Rubinstein-Taybi Syndrome 1	Accessory spleen, Hypospadias, Patent ductus arteriosus, Flexion contracture, Enamel hypoplasia, ...	OMIM:180849
Pemphigus Vulgaris	Atypical scarring of skin, Recurrent cutaneous abscess formation, Autoimmunity, Weight loss	ORPHA:704
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef...	OMIM:256050
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Autoimmune antibody positivity, Retinal hemorrhage, Re...	ORPHA:88
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit...	OMIM:614874
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Elevated circulating creatine kinase concentration, Hyperlordosis	OMIM:618129
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T ly...	OMIM:242700
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Leukocytosis, Hashimoto thyroiditis, Thrombocytopenia	ORPHA:83601
Congenital Myopathy 4A, Autosomal Dominant	Lumbar hyperlordosis, Failure to thrive, Dilated cardiomyopathy, Scoliosis	OMIM:255310
Chronic Visceral Acid Sphingomyelinase Deficiency	Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Systemic lupus erythematosus, Cherry re...	ORPHA:77293
Tetrasomy 9P	Myositis, Short neck, Inappropriate behavior, Micropenis, Pachygyria, Absent gallbladder, Juxtadu...	ORPHA:3310
Alexander Disease	Diabetes mellitus, Sudden cardiac death, Short neck, Precocious puberty, Hyperlordosis, Kyphosis,...	ORPHA:58
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Lumbar hyperlordosis, External genital hypoplasia, Short neck, Cryptorchidism, Fine hair, Sparse ...	ORPHA:251028
Pemphigus Foliaceus	Psoriasiform dermatitis, Autoimmunity, Hematological neoplasm, Pustule, Crusting erythematous der...	ORPHA:79481
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration	OMIM:167320
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Lumbar hyperlordosis, Premature osteoarthritis	OMIM:165800
Adiposis Dolorosa	Telangiectasia of the skin, Autoimmunity, Recurrent skin infections, Sparse axillary hair, Sparse...	ORPHA:36397
Type 1 Diabetes Mellitus	Polyuria, Autoimmunity	OMIM:222100
Myasthenic Syndrome, Congenital, 14	Mildly elevated creatine kinase, Scoliosis, Hyperlordosis	OMIM:616228
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial infarction, A...	ORPHA:904
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Lymphoma, Panniculitis, Cellulitis, Leukemia, Erysipelas	ORPHA:2526
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Lumbar hyperlordosis, Urinary incontinence, Congestive heart failure, Kyphosis, Ir...	OMIM:616482
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Micropenis, Abnormal natural...	OMIM:615966
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis	OMIM:270150
Multiple Endocrine Neoplasia, Type Iv	Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo...	OMIM:610755
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Tachycardia, Increased circulating interleukin 6 concentration, ...	ORPHA:542323
Stiff-Person Syndrome	Tachycardia, Lumbar hyperlordosis, Diabetes mellitus, Autoimmunity, Depression, Hypertension, Anemia	OMIM:184850
Intellectual Disability And Myopathy Syndrome	Left ventricular systolic dysfunction, Lumbar hyperlordosis, Atopic dermatitis, Scoliosis	OMIM:619719
Cutis Laxa, Autosomal Recessive, Type Iie	Lumbar hyperlordosis, Ovoid vertebral bodies, Highly arched eyebrow, Long eyelashes, Scoliosis	OMIM:619451
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Lumbar hyperlordosis, Scoliosis	OMIM:618167
Immunoglobulin A Deficiency 1	Autoimmunity, Decreased circulating IgA level	OMIM:137100
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Exercise-ind...	OMIM:607155
Hereditary Sensory And Autonomic Neuropathy Type 2	Dystrophic fingernails, Dystrophic toenail, Hyperlordosis	ORPHA:970
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Osteoarthritis, Abnormal form of the ve...	ORPHA:750
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating creatine kinase concentration, Hyperlordosis, Congestive heart failure, Card...	ORPHA:52430
Cold Agglutinin Disease	Splenomegaly, Abnormal urinary color, Hemolytic anemia, Autoimmunity	ORPHA:56425
Primary Sclerosing Cholangitis	Renal insufficiency, Abnormal eosinophil morphology, Autoimmunity, Portal hypertension, Spider he...	ORPHA:171
Lesch-Nyhan Syndrome	Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Podagra,...	OMIM:300322
Fucosidosis	Cervical platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Splenomegaly, Anterior beak...	OMIM:230000
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Telangiectasia of the skin, Autoimmunity, Congestive heart failure, Flexion ...	ORPHA:220393
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration	OMIM:613818
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Desbuquois Dysplasia 1	Hyperlordosis, Short neck, Kyphosis, Osteoarthritis, Obesity, Platyspondyly, Scoliosis	OMIM:251450
Mucopolysaccharidosis, Type Iva	Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ...	OMIM:253000
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Hyperlordosis, Concave nail, Osteoarthritis, Leukonychia, Fine hair...	OMIM:190350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration	OMIM:613723
Rasmussen Subacute Encephalitis	Autoimmunity, Antinuclear antibody positivity, Irritability, Anti-dsDNA antibody positivity, Emot...	ORPHA:1929
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia, Hypospadias, Patent ductus ar...	OMIM:163950
Trichodermodysplasia-Dental Alterations Syndrome	Sparse scalp hair, Brittle hair, Hyperlordosis, Fine hair, Sparse or absent eyelashes, Adenoma se...	ORPHA:3353
3Mc Syndrome	Supernumerary nipple, Hyperlordosis, Bilateral cryptorchidism, Highly arched eyebrow, Prominent c...	ORPHA:293843
Pemphigus Erythematosus	Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S...	ORPHA:79480
Myopathy, Centronuclear, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:255200
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Spinal rigidity, Cardio...	ORPHA:86812
Nodular Non-Suppurative Panniculitis	Autoimmunity, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Thoracomelic Dysplasia	Hyperlordosis, Low posterior hairline, Short neck	ORPHA:1803
Generalized Pustular Psoriasis	Renal insufficiency, Pustule, Congestive heart failure, Overweight, Leukocytosis, Cheilitis, Uvei...	ORPHA:247353
Congenital Myopathy 10B, Mild Variant	Elevated circulating creatine kinase concentration, Hyperlordosis, Recurrent pneumonia, Abnormal ...	OMIM:620249
Ciliary Dyskinesia, Primary, 15	Recurrent pneumonia, Abnormal axonemal organization of respiratory motile cilia, Bronchiectasis, ...	OMIM:613808
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Tricuspid regurgitation, Hyperlordosis, Periventricular heterotopia, Patent ductus arteriosus, Co...	OMIM:618870
Noonan Syndrome 3	Hypertrophic cardiomyopathy, Juvenile myelomonocytic leukemia, Patent ductus arteriosus, Pulmonic...	OMIM:609942
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ...	ORPHA:101096
Three M Syndrome 3	Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Decreased body ...	OMIM:614205
Myopathy, Centronuclear, 1	Mildly elevated creatine kinase, Hyperlordosis	OMIM:160150
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Autoimmunity, Cholangitis, Abnormality of the kidney, Increase...	ORPHA:449432
Camurati-Engelmann Disease	Cachexia, Hyperlordosis, Splenomegaly, Kyphosis, Leukopenia, Abnormality of the vertebral column,...	ORPHA:1328
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Intellectual Developmental Disorder, Autosomal Dominant 29	Lumbar hyperlordosis, Hyperlordosis, Cryptorchidism, Synophrys, Obesity, Hirsutism	OMIM:616078
Pycnodysostosis	Ridged nail, Decreased serum insulin-like growth factor 1, Decreased response to growth hormone s...	ORPHA:763
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea...	OMIM:615607
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Ascending aorta hypoplasia, Synophrys, Low...	OMIM:619503
Dermatitis Herpetiformis	Autoimmunity, Eczema, Microcytic anemia	ORPHA:1656
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Scoliosis, Hyperlordosis	ORPHA:2511
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega...	OMIM:260920
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hyperlordosis, Short neck, Premature osteoarthritis, Hepatosplenomegaly, Platyspondyly, Squared-o...	ORPHA:93352
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Curly hair, Failure to thrive, Scoliosis, Hyperlordosis	OMIM:300986
Saethre-Chotzen Syndrome	Abnormal hair pattern, Hyperlordosis, Cryptorchidism, Low anterior hairline, Abnormal form of the...	ORPHA:794
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperthyroidism, Diabetes mellitus, Autoimmunity, Shyness, Depression, Hypertension, Aortic root ...	ORPHA:449291
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Scoliosis, Hyperlordosis	OMIM:617760
Ciliary Dyskinesia, Primary, 22	Bronchiectasis, Absent inner and outer dynein arms, Rhinitis, Infertility, Recurrent sinusitis, R...	OMIM:615444
Turner Syndrome Due To Structural X Chromosome Anomalies	Myocardial infarction, Short neck, Ectopic kidney, Hypoplastic toenails, Delayed early-childhood ...	ORPHA:99413
Mosaic Monosomy X	Myocardial infarction, Short neck, Ectopic kidney, Hypoplastic toenails, Delayed early-childhood ...	ORPHA:99228
Monosomy X	Myocardial infarction, Short neck, Ectopic kidney, Hypoplastic toenails, Delayed early-childhood ...	ORPHA:99226
Wieacker-Wolff Syndrome	Hyperlordosis, Short neck, Kyphosis, Scoliosis, High anterior hairline	OMIM:314580
Turner Syndrome	Myocardial infarction, Short neck, Ectopic kidney, Hypoplastic toenails, Delayed early-childhood ...	ORPHA:881
22Q11.2 Deletion Syndrome	Impaired T cell function, Short neck, Abnormal aortic arch morphology, Hypoplasia of the thymus, ...	ORPHA:567
Urachal Cyst	Abscess, Dysuria, Pyuria, Leukocytosis, Peritonitis, Urachus fistula, Hematuria, Neoplasm	ORPHA:488
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R...	OMIM:192315
Myasthenia Gravis	Autoimmunity, Thymoma	OMIM:254200
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Mitral regurgitation, Scoliosis,...	ORPHA:313892
Xeroderma Pigmentosum, Complementation Group B	Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cutaneous melanoma	OMIM:610651
Bullous Pemphigoid	Psoriasiform dermatitis, Autoimmunity, Eczema, Weight loss	ORPHA:703
Huriez Syndrome	Squamous cell carcinoma of the skin	OMIM:181600
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis, Recurrent otitis medi...	OMIM:608647
Mucopolysaccharidosis, Type Ivb	Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Mitral regur...	OMIM:253010
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Splenomegaly, Hepatosplenomegaly, Mitral regurgitation, Aortic ...	OMIM:613563
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Autoimmunity, Parathormone-independent increased renal tubular calcium reabsorpt...	ORPHA:405
Oculocutaneous Albinism Type 1B	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:79434
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Interstitial pneumonitis, Vasculitis in the skin, Anemia	OMIM:620296
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Arthritis, ...	OMIM:184100
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Renal hypoplasia/aplasia, Schwannoma, Abnormal renal morphology, Ossifying fibroma, Mi...	ORPHA:363700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Elevated circulating creatine kinase concentration, Pneumonia, Scoliosis, Hyperlordosis	OMIM:253700
Sotos Syndrome	Ureteral duplication, Astrocytoma, Flexion contracture, Neoplasm, Vesicoureteral reflux, Chronic ...	ORPHA:821
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Hyperl...	OMIM:615873
Oncogenic Osteomalacia	Hyperphosphaturia, Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carc...	ORPHA:352540
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Lumbar hyperlordosis, Hypoplastic sacrum, Platyspondyly	OMIM:271650
Igg4-Related Thyroid Disease	Autoimmunity, Anti-thyroid peroxidase antibody positivity, Thyroiditis, Sclerosing cholangitis, N...	ORPHA:64744
Jansen-De Vries Syndrome	Small nail, Hyperlordosis	OMIM:617450
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Pheochromocytoma, Elevated urinary vanillylmandel...	ORPHA:653
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Squamous cell carcinoma of the skin	ORPHA:85112
Floating-Harbor Syndrome	Hypospadias, Kyphoscoliosis, Short neck, Cryptorchidism, Generalized hypertrichosis, Glandular hy...	OMIM:136140
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, B-cell lymphoma, Autoimmunity, Right ventricular failure, Lymph...	ORPHA:90363
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Elevated circulating creatine kinase concentration, Hyperlordosis	OMIM:613157
Intrahepatic Cholestasis Of Pregnancy	Small for gestational age, Autoimmunity, Skin rash, Depression, Abnormal pineal melatonin secreti...	ORPHA:69665
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Gastrointestinal stroma tumor, Leiomyosarcoma, Hyperten...	ORPHA:139411
Arthrogryposis, Distal, Type 5D	Highly arched eyebrow, Hyperlordosis, Short neck, Hypoplastic labia majora, Scoliosis	OMIM:615065
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Curly hair, Sacral dimple, Macroorchidism, Hyperlordosis, Precocious puberty, Short neck, Low ant...	OMIM:619950
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Hyperlordosis,...	OMIM:616007
Nail-Patella Syndrome	Back pain, Renal insufficiency, Lumbar hyperlordosis, Coronary artery dissection, Abnormality of ...	ORPHA:2614
Typical Nemaline Myopathy	Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyphosis, Sho...	ORPHA:171436
Alström Syndrome	Thoracic scoliosis, Decreased response to growth hormone stimulation test, Urinary incontinence, ...	ORPHA:64
Facioscapulohumeral Dystrophy	Abnormal eyelash morphology, Elevated circulating creatine kinase concentration, Hyperlordosis	ORPHA:269
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-C2 subluxation	OMIM:184250
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis	ORPHA:156728
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Cryptorchidism, Lumbar hyperlordosis	OMIM:602471
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Autoimmunity, ...	ORPHA:3453
Monosomy 18P	Alopecia, Autoimmunity, Kyphoscoliosis, Short neck, Low posterior hairline, Hypertension, Hypothy...	ORPHA:1598
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Hyperlordosis, Sparse eyebrow, Leukonychia, Scoliosis, Sparse hair, Fragile nails	ORPHA:77258
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Lumbar hyperlordosis	OMIM:609325
Ciliary Dyskinesia With Defective Radial Spokes	Sinusitis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis, Immotile sperm	OMIM:242670
Stiff Person Spectrum Disorder	Lumbar hyperlordosis, Diabetes mellitus, Autoimmune antibody positivity, Emotional lability, Hypo...	ORPHA:3198
Pelvis-Shoulder Dysplasia	Lumbar hyperlordosis, Prominent protruding coccyx, Abnormal form of the vertebral bodies, Facial ...	ORPHA:2839
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Elevated circulating creatine kinase concentration, Hyperlordosis, Congestive heart...	OMIM:310200
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o...	ORPHA:93314
Opitz-Kaveggia Syndrome	Sacral dimple, Lumbar hyperlordosis, Hypospadias, Short neck, Cryptorchidism, Fine hair, Gray mat...	OMIM:305450
Neurofibromatosis, Type I	Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Hypertension, Optic nerve glioma, Pheochromocytoma, ...	OMIM:162200
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis, Hump-shaped moun...	OMIM:313400
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Splenomegaly, Leukocytosis, Splenic infarction, Hematuria,...	OMIM:603903
Congenital Muscular Dystrophy With Cerebellar Involvement	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Gray matter heterotopia...	ORPHA:370959
Erythema Elevatum Diutinum	Skin rash, Vasculitis in the skin, Increased circulating antibody level	ORPHA:90000
Three M Syndrome 2	Hyperlordosis, Lumbar hyperlordosis, Small for gestational age, Short neck	OMIM:612921
Distal Deletion 10Q	Lumbar hyperlordosis, Hypoplastic toenails, Patent ductus arteriosus, Functional abnormality of t...	ORPHA:96148
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Elevated circulating creatine kinase concentration, Hyperlordosis	OMIM:611588
Congenital Myasthenic Syndromes With Glycosylation Defect	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis	ORPHA:353327
Multiple Endocrine Neoplasia, Type Iib	Failure to thrive in infancy, Hyperlordosis, Kyphosis, Elevated urinary epinephrine level, Pheoch...	OMIM:162300
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hyperlordosis, Precocious puberty, Synophrys, Obesity, Hepatosplenomegaly, Cholecystitis, Recurre...	OMIM:301066
Mucopolysaccharidosis, Type X	Aortic regurgitation, Beaking of vertebral bodies, Hyperlordosis, Nephrolithiasis, Dermatan sulfa...	OMIM:619698
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Truncal obesity, Autoimmunity, Large for gestational age	ORPHA:293964
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa...	ORPHA:75565
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Hyperlordosis, Cardiomyopathy, Highly elevated creatine kinase, Reduced left ventricula...	ORPHA:258
Myopathy, Scapulohumeroperoneal	Scoliosis, Hyperlordosis	OMIM:616852
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu...	ORPHA:79078
Myopathy, Myofibrillar, 7	Lumbar hyperlordosis, Urinary incontinence, Elevated circulating creatine kinase concentration, S...	OMIM:617114
Oculocutaneous Albinism Type 1A	Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:79431
Split Cord Malformation	Back pain, Abnormal thoracic spine morphology, Low back pain, Neurogenic bladder, Hypospadias, Ur...	ORPHA:573278
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Chronic otitis media, Chronic sinusitis, Polysplenia, Reduced progressive sperm motility	OMIM:619608
Floating-Harbor Syndrome	Hypospadias, Small for gestational age, Kyphoscoliosis, Short neck, Precocious puberty, Cryptorch...	ORPHA:2044
Rhizomelic Dysplasia, Patterson-Lowry Type	Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:2831
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Poikilocytosis, Fava b...	OMIM:300908
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Kyphoscoliosis, Ectopic kidney, Sparse eyebrow, Cryptorchidism, Kyphosis, Synophrys,...	ORPHA:3063
Metaphyseal Chondrodysplasia, Schmid Type	Lumbar hyperlordosis, Obesity, Irregular vertebral endplates, Platyspondyly, Abnormal vertebral m...	ORPHA:174
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ...	ORPHA:93315
Mucopolysaccharidosis, Type Vi	Tricuspid regurgitation, Lumbar hyperlordosis, Pneumonia, Ovoid vertebral bodies, Kyphoscoliosis,...	OMIM:253200
Neuropathy, Congenital, With Arthrogryposis Multiplex	Hyperlordosis	OMIM:162370
Opsoclonus-Myoclonus Syndrome	Ovarian teratoma, Small cell lung carcinoma, Autoimmune antibody positivity, Breast carcinoma, Ne...	ORPHA:1183
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Bronchiectasis, Autoimmunity, Pneumonia	ORPHA:1303
Amyotrophic Lateral Sclerosis 27, Juvenile	Scoliosis, Hyperlordosis	OMIM:620285
Hereditary Mixed Polyposis Syndrome	Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Hematochezi...	ORPHA:157794
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr...	OMIM:609616
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Lymphadenitis, Abnormal circulating interleukin concentration, Salmonella osteomyeliti...	ORPHA:319552
Isolated Osteopoikilosis	Discoid lupus rash, Keloids, Autoimmunity, Abnormality of the kidney	ORPHA:166119
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Depression, Scoliosis, Hyperlordosis	OMIM:128100
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ...	ORPHA:15
Spondyloepimetaphyseal Dysplasia, Shohat Type	Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Scoliosis, Vertebral compression f...	OMIM:602557
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Osteoarthritis, Coronal cleft ve...	ORPHA:1427
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Vertebral segmentation defect, Low posterior hairline, Scoliosis, Hyperlordosis	ORPHA:1323
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration, Infectious encephalitis, Autoimmunity	ORPHA:363558
Hypochondroplasia	Widened interpedicular distance, Lumbar hyperlordosis	OMIM:146000
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Epis...	ORPHA:167
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Lumbar hyperlordosis, Knee osteoarthritis, Mitral ...	ORPHA:2848
Steinert Myotonic Dystrophy	Prolonged QRS complex, Decreased response to growth hormone stimulation test, Non-medullary thyro...	ORPHA:273
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Lumbar hyperlordosis, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Widow's peak, Renal ...	OMIM:616975
Ehlers-Danlos Syndrome, Periodontal Type, 1	Prominent superficial veins, Inguinal hernia, Autoimmunity, Hiatus hernia, Atrophic scars, Period...	OMIM:130080
Smith-Mccort Dysplasia 2	Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Decreased body weight	OMIM:615222
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Decreased circulating IgG level, Lumbar hyperlordosis, Kyphoscoliosis, Congenital hypothyroidism,...	OMIM:271510
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Bronchiectasis, Reduced sperm motility	OMIM:615434
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Mucopolysacchariduria,...	ORPHA:582
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Scoliosis, Hyperlordosis	OMIM:181405
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Sparse eyebrow, Kyphosis, Impair...	ORPHA:457359
Cushing Syndrome Due To Ectopic Acth Secretion	Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic e...	ORPHA:99889
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Osteoarthritis, Kyphosis, Platyspondyly...	OMIM:177170
Sponastrime Dysplasia	Lumbar hyperlordosis, Hypospadias, Small for gestational age, Kyphoscoliosis, Precocious puberty,...	ORPHA:93357
Acromesomelic Dysplasia 4	Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Synophrys, Platyspondyly, Third...	OMIM:619636
Oculocutaneous Albinism Type 2	Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma	ORPHA:79432
Steel Syndrome	Lumbar hyperlordosis, Scoliosis	OMIM:615155
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Short neck, Thoracic platyspondyly, Paten...	ORPHA:457395
Metaphyseal Chondrodysplasia, Schmid Type	Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis	OMIM:156500
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis, Reduced systolic function, Aortic root aneurysm, Sinus ...	ORPHA:171881
Osteopathia Striata-Cranial Sclerosis Syndrome	Hyperlordosis, Coarctation of aorta, Scoliosis, Aortic valve stenosis, Spina bifida occulta	ORPHA:2780
Yellow Fever	Shock, Acute pancreatitis, Neutrophilia, Skin rash, Anuria, Supraventricular arrhythmia, Renal in...	ORPHA:99829
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmunity, Hepatitis, Hy...	ORPHA:436252
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Abnormal circulating creatine kinase concentration, Hyperlordosis	ORPHA:369840
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy...	OMIM:608203
Autosomal Recessive Centronuclear Myopathy	Hyperlordosis	ORPHA:169186
Myotonia Permanens	Hyperlordosis	ORPHA:99735
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Renal insufficiency, Hyperlordosis, Hypoplasia of the odontoid process, Insulin-resistant diabete...	OMIM:226980
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Autoimmunity, Antinuclear antibody positivi...	ORPHA:85436
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Lumbar hyperlordosis, Premature osteoarthritis, Recurrent pneumonia, Coronal cleft vertebrae, Pla...	OMIM:215150
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Back pain, Recurrent urinary tract infections, Lumbar hyperlordosis, Decreased response to growth...	OMIM:619234
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Recurrent urinary tract infections, Highly arched eyebrow, Hyperlordosis, D...	ORPHA:261330
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph...	ORPHA:94068
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Hyperlordosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3218
Dysostosis, Stanescu Type	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:1798
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:183900
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Unilateral renal agenesis, Cavernous hemangioma of the face, Recurre...	ORPHA:99646
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies	OMIM:608728
Desbuquois Dysplasia 2	Lumbar hyperlordosis, Short neck, Synophrys, Truncal obesity, Platyspondyly	OMIM:615777
Lhermitte-Duclos Disease	Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm	ORPHA:65285
Anauxetic Dysplasia 1	Lumbar hyperlordosis, Short neck, Platyspondyly, Cervical subluxation, Thoracic kyphosis, Aortic ...	OMIM:607095
Pure Mitochondrial Myopathy	Lumbar hyperlordosis, Recurrent myoglobinuria, Scoliosis	ORPHA:254854
Acute Transverse Myelitis	Back pain, Orthostatic hypotension, Decreased circulating copper concentration, Autoimmunity, Sub...	ORPHA:139417
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Elevated circulating creatine kinase concentration, Spinal rigidity, Hyperlordosis,...	ORPHA:268
Encephalitis Lethargica	Urinary incontinence, Autoimmunity, Bradycardia, Increased circulating antibody level	ORPHA:83600
Primary Biliary Cholangitis	Orthostatic hypotension, Autoimmunity, Portal hypertension, Increased circulating IgA level, Anti...	ORPHA:186
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Bladder diverticulum, Scoliosis, Hyperlordosis	OMIM:617821
Pfeiffer Syndrome	Hyperlordosis, Short neck	ORPHA:710
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Lumbar hyperlordosis, Obesity, Scoliosis, Recurrent otitis media, Abnormality of the nail	OMIM:250420
Bethlem Myopathy	Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Scoliosis, Spinal rigidity	ORPHA:610
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Lumbar hyperlordosis, Scoliosis	OMIM:601152
Frontorhiny	Lumbar hyperlordosis, Widow's peak, Scoliosis, Hypopituitarism, Diabetes insipidus	ORPHA:391474
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th...	OMIM:223800
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Absent gallbladder, Curly hair, Lumbar hyperlordosis, Failure to...	ORPHA:500150
Achondroplasia	Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis...	OMIM:100800
Branchiooculofacial Syndrome	Hypospadias, Renal agenesis, Supernumerary nipple, Hyperlordosis, Short neck, Cryptorchidism, Kyp...	OMIM:113620
Acromesomelic Dysplasia 1	Lumbar hyperlordosis, Ovoid vertebral bodies, Short nail, Thoracolumbar interpediculate narrownes...	OMIM:602875
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Scoliosis, Elevated circulating creatine kinase concentration, Esophagitis, Hyperlordosis	OMIM:615356
Congenital Fiber-Type Disproportion Myopathy	Kyphoscoliosis, Hyperlordosis, Weight loss, Scoliosis, Aspiration pneumonia, Failure to thrive	ORPHA:2020
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Lumbar hyperlordosis, Abnormality of the nail, Short neck	ORPHA:171866
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Block vertebrae, Hyperlordosis, Short neck, Hypoplasia of the odontoid process,...	OMIM:272460
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic regurgitation, Tricuspid regurgitation, Mitral stenosis, Tricuspid stenosis, Lumbar hyperl...	OMIM:143095
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Hyperlordosis, Sparse eyebrow, Kyphosis, Large for gestational age, Scoliosis	OMIM:617011
Langer Mesomelic Dysplasia	Lumbar hyperlordosis	OMIM:249700
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Spina bifida occulta	OMIM:169550
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Patent ductus arteriosus, Spinal canal stenosis, Mitral regurgitation, Pulm...	OMIM:277600
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Hyphema, Retinal arteritis, Panuveitis, Posterior uveitis	ORPHA:209959
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Tricuspid regurgitation, Dilation of Virchow-Robin spaces, Hyperlordosis, Hypophosphaturia, Abnor...	ORPHA:73223
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Lumbar hyperlordosis, Short neck	OMIM:612813
Weill-Marchesani Syndrome 2	Lumbar hyperlordosis, Congestive heart failure, Patent ductus arteriosus, Spinal canal stenosis, ...	OMIM:608328
Turnpenny-Fry Syndrome	Aortic regurgitation, Thoracic kyphoscoliosis, Sparse scalp hair, Lumbar hyperlordosis, Patent du...	OMIM:618371
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Lumbar hyperlordosis, Abnormal location of the eyebrow, Widow's peak, Horizontal eyebrow, Scoliosis	ORPHA:522077
Acrocapitofemoral Dysplasia	Lumbar hyperlordosis, Short nail, Ovoid vertebral bodies, Broad nail, Scoliosis	OMIM:607778
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis	OMIM:184253
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight	OMIM:182210
Iniencephaly	Absent vertebra, Renal agenesis, Lissencephaly, Hyperlordosis	ORPHA:63259
Microphthalmia, Syndromic 1	Lumbar hyperlordosis, Hypospadias, Hydroureter, Kyphoscoliosis, Renal hypoplasia/aplasia, Cryptor...	OMIM:309800
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat...	OMIM:300106

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 Tusc2

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 Tusc2.

No publications found that use IMPC mice or data for Tusc2.

Order Mouse and ES Cells

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
Tusc2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Tusc2^{tm447088(L1L2_GT2_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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