Gene: Atm MGI:107202

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

ataxia telangiectasia mutated

Synonyms:

C030026E19Rik

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 Atm 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 Atm (4 diseases)
Human diseases predicted to be associated with Atm (1423 diseases)

The table below shows human diseases associated to Atm by orthology or direct annotation.

Disease	Matching phenotypes	Source
Breast Cancer	Breast carcinoma	OMIM:114480
Ataxia-Telangiectasia	Failure to thrive, Neoplasm, Type II diabetes mellitus, Lymphopenia, Delayed puberty, Diabetes me...	ORPHA:100
Mantle Cell Lymphoma	B-cell lymphoma, Lymphadenopathy, Splenomegaly	ORPHA:52416
Ataxia-Telangiectasia	Failure to thrive, Ataxia, Inability to walk, Lymphopenia, Progressive cerebellar ataxia, Hodgkin...	OMIM:208900

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

Disease	Matching phenotypes	Source
Diabetes Mellitus, Transient Neonatal, 2	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Maternal diabetes	OMIM:616329
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 4	Maturity-onset diabetes of the young, Type II diabetes mellitus	OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7	Maturity-onset diabetes of the young, Type II diabetes mellitus	OMIM:610508
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14	Maturity-onset diabetes of the young, Diabetes mellitus	OMIM:616511
Type 1 Diabetes Mellitus 2	Type I diabetes mellitus, Diabetes mellitus	OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 6	Maturity-onset diabetes of the young	OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2	Maturity-onset diabetes of the young	OMIM:125851
Type 1 Diabetes Mellitus 20	Type I diabetes mellitus	OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9	Maturity-onset diabetes of the young	OMIM:612225
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus	OMIM:600089
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ...	OMIM:242870
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Li-Fraumeni Syndrome 2	Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma	OMIM:609265
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Immunodeficiency 18	Recurrent gastroenteritis, Lymphopenia, Defective T cell proliferation, Recurrent otitis media, D...	OMIM:615615
Ovarian Cancer	Dysgerminoma, Breast carcinoma, Ovarian papillary adenocarcinoma	OMIM:167000
Hereditary Breast And Ovarian Cancer Syndrome	Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Abnormal...	ORPHA:145
Glioma Susceptibility 9	Glioma, Renal neoplasm, Neoplasm of the lung, Leukemia, Astrocytoma	OMIM:616568
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Breast-Ovarian Cancer, Familial, Susceptibility To, 3	Ovarian carcinoma, Breast carcinoma	OMIM:613399
Breast-Ovarian Cancer, Familial, Susceptibility To, 2	Ovarian neoplasm, Breast carcinoma	OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1	Ovarian neoplasm, Breast carcinoma	OMIM:604370
Immunodeficiency 79	Decreased proportion of CD4-positive T cells	OMIM:619238
Maturity-Onset Diabetes Of The Young, Type 1	Maturity-onset diabetes of the young	OMIM:125850
Cerebral Sarcoma	Neoplasm, Fibrosarcoma	OMIM:117600
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma	OMIM:247640
Combined Cellular And Humoral Immune Defects With Granulomas	Recurrent respiratory infections, Decreased circulating IgG level, B lymphocytopenia, T lymphocyt...	OMIM:233650
Myeloproliferative Syndrome, Transient	Transient myeloproliferative syndrome, Leukocytosis	OMIM:159595
Pancreas, Dorsal, Agenesis Of	Diabetes mellitus	OMIM:167755
Immunodeficiency 14A, Autosomal Dominant	Recurrent sinopulmonary infections, Splenomegaly, Decreased specific pneumococcal antibody level,...	OMIM:615513
Lymphoma, Hodgkin, Classic	Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM	OMIM:236000
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased proportion of CD4-po...	OMIM:618204
Serrated Polyposis Syndrome	Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can...	ORPHA:157798
Myeloproliferative Disorder, Chronic, With Eosinophilia	Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation	OMIM:131440
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem...	OMIM:153600
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Decreased proportion of CD4-p...	OMIM:312863
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Reduced natural kil...	OMIM:614493
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati...	OMIM:606843
Immunodeficiency 40	Lymphopenia	OMIM:616433
Multiple Fibroadenomas Of The Breast	Fibroadenoma of the breast	OMIM:615554
Enchondromatosis, Multiple, Ollier Type	Hemangioma, Multiple enchondromatosis, Chondrosarcoma	OMIM:166000
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Immunodeficiency 24	Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ...	OMIM:615897
Melanoma-Pancreatic Cancer Syndrome	Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel...	OMIM:606719
Lymphoid System Deterioration, Progressive	Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I...	OMIM:247630
Li-Fraumeni Syndrome	Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca...	ORPHA:524
Myeloproliferative Disease, Autosomal Recessive	Myeloproliferative disorder	OMIM:254700
Immunodeficiency 48	Recurrent candida infections, Splenomegaly, Panhypogammaglobulinemia, Absence of CD8-positive T c...	OMIM:269840
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer...	OMIM:151623
Okt4 Epitope Deficiency	Abnormal T cell morphology	OMIM:613949
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou...	ORPHA:443167
Immunodeficiency 8	Lymphopenia	OMIM:615401
Ovarian Fibromata	Ovarian fibroma	OMIM:166970
Erythroleukemia, Familial, Susceptibility To	Splenomegaly, Thrombocytopenia, Anemia, Refractory anemia with ringed sideroblasts, Leukemia, Acu...	OMIM:133180
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Cd8 Deficiency, Familial	Recurrent bacterial infections, Absence of CD8-positive T cells, Recurrent respiratory infections...	OMIM:608957
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus	OMIM:612227
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Mismatch Repair Cancer Syndrome 2	T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme	OMIM:619096
Fraxf Syndrome	Folate-dependent fragile site at Xq28	ORPHA:100974
Immunodeficiency 86	Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst	OMIM:619549
Rhabdoid Tumor Predisposition Syndrome 2	Neoplasm of the central nervous system, Carcinoma	OMIM:613325
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased circulating antibody level, Recurrent infections	OMIM:235900
Immunodeficiency 25	Recurrent candida infections, Increased circulating IgA level, Eosinophilia, Increased circulatin...	OMIM:610163
Hyperinsulinism Due To Insr Deficiency	Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr...	ORPHA:263458
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Decreased ...	OMIM:618987
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia	OMIM:246470
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Maffucci Syndrome	Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost...	ORPHA:163634
Preimplantation Embryonic Lethality 2	Infertility	OMIM:617234
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,...	OMIM:613500
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Increased circulating antibody level, Increased circulating IgG level...	ORPHA:169154
Spermatogenic Failure 17	Infertility	OMIM:617214
Oocyte Maturation Defect 3	Infertility	OMIM:617712
Spermatogenic Failure 27	Infertility	OMIM:617965
Oocyte Maturation Defect 5	Infertility	OMIM:617996
Persistent Polyclonal B-Cell Lymphocytosis	Recurrent infections, Decreased circulating total IgM, Lymphocytosis, Splenomegaly	OMIM:606445
Immunodeficiency 50	Lymphopenia, Recurrent urinary tract infections, Decreased circulating antibody level, Neutropeni...	OMIM:300988
Multiple Symmetric Lipomatosis	Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology	ORPHA:2398
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
N Syndrome	Hypospadias, Neoplasm, Leukemia, Cryptorchidism	OMIM:310465
Desmoid Disease, Hereditary	Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma	OMIM:135290
Cernunnos-Xlf Deficiency	Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ...	ORPHA:169079
Colorectal Cancer, Hereditary Nonpolyposis, Type 4	Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endometrial carcinoma	OMIM:614337
Immunodeficiency 64	Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Incre...	OMIM:618534
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha...	OMIM:616452
Multiple Enchondromatosis, Maffucci Type	Hemangioma, Multiple enchondromatosis, Chondrosarcoma	OMIM:614569
Rhabdomyosarcoma, Embryonal, 2	Pleuropulmonary blastoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Ovarian thecoma, Multinodul...	OMIM:180295
Familial Multinodular Goiter	Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit...	ORPHA:276399
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis, Carcinoma	OMIM:615083
Adult Idiopathic Neutropenia	Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact...	ORPHA:2688
Muir-Torre Syndrome	Malignant genitourinary tract tumor, Ovarian neoplasm, Benign gastrointestinal tract tumors, Brea...	OMIM:158320
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb...	OMIM:619220
Subependymoma	Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ...	ORPHA:251639
Ependymoma	Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ...	ORPHA:251636
46,Xy Sex Reversal 10	Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Gonadoblastoma, Decreased testicular...	OMIM:616425
Tumor Predisposition Syndrome 2	Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me...	OMIM:619975
Immunodeficiency 95	Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respiratory tract infections...	OMIM:619773
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas...	OMIM:613502
Immunodeficiency, Common Variable, 3	Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,...	OMIM:613493
Immunodeficiency 19	Lymphopenia	OMIM:615617
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:140941
Akt2-Related Familial Partial Lipodystrophy	Decreased serum leptin, Lipodystrophy, Increased intraabdominal fat, Insulin-resistant diabetes m...	ORPHA:79085
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia	OMIM:600496
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:619707
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections, Neutropenia	OMIM:615214
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly	OMIM:183350
Schöpf-Schulz-Passarge Syndrome	Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm	ORPHA:50944
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:611926
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease...	OMIM:608106
Hydatidiform Mole, Recurrent, 3	Infertility	OMIM:618431
Isochromosomy Yp	Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ...	ORPHA:98797
Fanconi Anemia, Complementation Group G	Myelodysplasia, Neutropenia, Anemia, Thrombocytopenia, Leukemia	OMIM:614082
Obesity Due To Melanocortin 4 Receptor Deficiency	Polyphagia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue	ORPHA:71529
Hyperinsulinemic Hypoglycemia, Familial, 3	Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus	OMIM:602485
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C...	OMIM:617241
Immunodeficiency 105	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly...	OMIM:619924
Partial Chromosome Y Deletion	Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ...	ORPHA:1646
Papular Xanthoma	Histiocytosis	ORPHA:158008
Transcobalamin Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat...	ORPHA:859
Isochromosomy Yq	Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins...	ORPHA:98798
Insulin Autoimmune Syndrome	Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia...	ORPHA:411593
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:612692
Breast Cancer	Breast carcinoma	OMIM:114480
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma	ORPHA:2023
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgA level, Recurrent fungal infections, Decreased circulating IgG level, Ch...	OMIM:300400
Gonadoblastoma	Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali...	ORPHA:206484
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, Recurrent infections, B lymphocytopenia, Recurrent otitis media	OMIM:616941
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis	OMIM:247800
Cortisone Reductase Deficiency 2	Insulin resistance	OMIM:614662
Lipe-Related Familial Partial Lipodystrophy	Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Decreased ...	ORPHA:435660
Immunodeficiency 36	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Recu...	OMIM:616005
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus	OMIM:613370
Spermatogenic Failure 57	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size	OMIM:619145
Paraneoplastic Pemphigus	Thymoma, B-cell lymphoma, Sarcoma	ORPHA:63455
Lymphedema, Primary, With Myelodysplasia	Myelodysplasia, Pancytopenia, Verrucae, Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio	OMIM:614038
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia	ORPHA:157991
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Rec...	OMIM:615285
Lipodystrophy, Familial Partial, Type 5	Diabetic ketoacidosis, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin	OMIM:615238
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Leukopenia, Monocytosis, Lymphoma, Myelodysplasia, Refractory anemia, Acute myeloid leukemia	OMIM:616871
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia	OMIM:610798
Reticular Dysgenesis	Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Sepsis, Leukopenia, Congenital ag...	OMIM:267500
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lack of T cell function, Lymphopenia, Recurrent upper respiratory tract infections, Recurrent opp...	ORPHA:277
Immunodeficiency 21	Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Myelodys...	OMIM:614172
Thymoma, Familial	Thymoma, Neoplasm	OMIM:274230
Ring Chromosome Y Syndrome	Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m...	ORPHA:261529
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Eosinophilia, Splenomegaly	OMIM:607685
Immunodeficiency 103, Susceptibility To Fungal Infections	Onychomycosis, Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Abnormal B ...	OMIM:212050
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Ovarian neoplasm, Neoplasm of the central nervous system, Neoplasm of t...	ORPHA:83469
Immunodeficiency 76	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly	OMIM:619164
Dermatofibrosarcoma Protuberans	Fibrosarcoma, Neoplasm of the skin	ORPHA:31112
Autoimmune Lymphoproliferative Syndrome	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos...	OMIM:601859
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Alpha-Thalassemia-Myelodysplastic Syndrome	Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, A...	ORPHA:231401
Cidec-Related Familial Partial Lipodystrophy	Loss of gluteal subcutaneous adipose tissue, Decreased serum leptin, Lipodystrophy, Insulin-resis...	ORPHA:435651
Unclassified Myelodysplastic Syndrome	Myelodysplasia, Leukocytosis, Acute myeloid leukemia, Multiple lineage myelodysplasia	ORPHA:98827
Epidermodysplasia Verruciformis, Susceptibility To, 5	Squamous cell carcinoma of the skin, Verrucae, Lymphopenia, T lymphocytopenia	OMIM:618309
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Myelodysplasia, Acute lymphoblastic leukemia, Neutropenia	OMIM:610738
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ...	OMIM:202700
Primary Erythromelalgia	Leukemia	ORPHA:90026
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive	Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir...	OMIM:618944
Lichen Sclerosus Et Atrophicus	Squamous cell carcinoma, Carcinoma	OMIM:151590
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2	Leukemia, Aplastic anemia, Myeloid leukemia, Pancytopenia	OMIM:614743
Acquired Ichthyosis	Neoplasm, Multiple myeloma, Sarcoma, Lymphoma	ORPHA:454
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Myelodysplasia, Neutropenia, Anemia, Thrombocyto...	OMIM:619041
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphocytosis, Splenomegaly, Lymphoproliferative disorder, Monocytosis, Autoimmune thrombocytopen...	OMIM:614470
Spermatogenic Failure 35	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:618341
Spermatogenic Failure 33	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:618152
Spermatogenic Failure 34	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:618153
Spermatogenic Failure 18	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617576
Spermatogenic Failure 19	Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617592
Maturity-Onset Diabetes Of The Young, Type 11	Maturity-onset diabetes of the young, Diabetes mellitus	OMIM:613375
Immunodeficiency 72 With Autoinflammation	Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Recurrent infections...	OMIM:618982
Premature Ovarian Failure 8	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:615723
Agammaglobulinemia 3, Autosomal Recessive	Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agamma...	OMIM:613501
Caspase 8 Deficiency	Decreased circulating IgA level, Decreased circulating IgG level, Recurrent sinopulmonary infecti...	OMIM:607271
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility	OMIM:619108
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Lipoatrophy, Diabetes mellitus	ORPHA:79084
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos...	OMIM:619824
Obesity Due To Prohormone Convertase I Deficiency	Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic...	ORPHA:71526
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati...	OMIM:616636
Immunodeficiency 97 With Autoinflammation	Hemophagocytosis, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, Decreased ...	OMIM:619802
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Multiple myeloma, Hemophagocytosis, T-cell lymphoma, Pancytopenia, Burkitt lymphoma, Splenomegaly...	ORPHA:158057
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i...	OMIM:301082
Ollier Disease	Chondrosarcoma, Neoplasm, Lymphangioma, Precocious puberty, Anemia, Hemangioma, Multiple enchondr...	ORPHA:296
Spermatogenic Failure 73	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619646
Immunodeficiency 104	Splenomegaly, Recurrent opportunistic infections, T lymphocytopenia, Chronic mucocutaneous candid...	OMIM:608971
Spermatogenic Failure 74	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619672
Lymphoproliferative Syndrome, X-Linked, 1	Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Apla...	OMIM:308240
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia	OMIM:616873
Spermatogenic Failure 12	Azoospermia, Infertility, Abnormal male germ cell morphology	OMIM:615413
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ...	OMIM:614868
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Lymphangioma, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyroid gland,...	ORPHA:137608
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Recurrent opportunistic infections, B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopeni...	OMIM:601457
Cutaneous Neuroendocrine Carcinoma	Multiple myeloma, Carcinoid tumor, Lymphoid leukemia, Basal cell carcinoma, Neoplasm of the outer...	ORPHA:79140
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis	ORPHA:158025
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Immunodeficiency 13	Lymphopenia, Recurrent upper respiratory tract infections, B lymphocytopenia, T lymphocytopenia, ...	OMIM:615518
Neutropenia, Chronic Familial	Increased circulating antibody level, Neutropenia	OMIM:162700
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Myeloid leukemia	OMIM:616604
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,...	OMIM:613494
Spermatogenic Failure 25	Azoospermia, Cryptozoospermia, Decreased testicular size	OMIM:617960
Immunodeficiency 54	Adrenal insufficiency, Failure to thrive, Adrenocorticotropic hormone excess, Chromosome breakage...	OMIM:609981
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex...	OMIM:602450
Leukemia, Chronic Myeloid	Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia	OMIM:608232
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Abnormality of chromosome stability, Pancytopenia	OMIM:600546
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, B lymphocytopen...	ORPHA:217390
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus	OMIM:613877
Spermatogenic Failure 10	Infertility, Abnormal sperm morphology	OMIM:614822
Immunodeficiency 84	B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly	OMIM:619437
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Ataxia, Cerebellar atrophy, Azoospermia	OMIM:613909
Storage Pool Platelet Disease	Myelodysplasia, Acute leukemia, Decreased mean platelet volume	OMIM:185050
Spermatogenic Failure 70	Azoospermia, Oligospermia, Male infertility, Reduced sperm motility	OMIM:619828
Immunodeficiency, Common Variable, 1	Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ...	OMIM:607594
Spinocerebellar Ataxia Type 32	Testicular atrophy, Progressive cerebellar ataxia, Male infertility, Cerebellar atrophy, Azoospermia	ORPHA:276183
Acquired Hypertrichosis Lanuginosa	Neoplasm, Ovarian neoplasm, Neoplasm of the respiratory system, Neoplasm of the breast	ORPHA:2221
Immunodeficiency 70	Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Recurrent si...	OMIM:618969
Lipodystrophy, Familial Partial, Type 3	Reduced subcutaneous adipose tissue, Hirsutism, Type II diabetes mellitus, Hyperinsulinemia, Loss...	OMIM:604367
Immunoglobulin A Deficiency 2	Decreased circulating IgA level, Abnormal lymphocyte morphology, Recurrent sinopulmonary infectio...	OMIM:609529
Spermatogenic Failure 22	Cryptozoospermia, Male infertility, Non-obstructive azoospermia	OMIM:617706
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In...	ORPHA:399805
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,...	OMIM:300853
Chromosomal Instability With Tissue-Specific Radiosensitivity	Abnormality of chromosome stability	OMIM:215510
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Abnormal dense granule content, Neuroblastoma, Acute monocytic leukemia, Lymphoma, Myelodysplasia...	OMIM:601399
Dohle Bodies And Leukemia	Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia	OMIM:223350
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hirsutism, Generalized lipodystrophy, Lipodystrophy, Diabete...	OMIM:612526
Xeroderma Pigmentosum, Complementation Group G	Tremor, Defective DNA repair after ultraviolet radiation damage, Spasticity, Ataxia	OMIM:278780
Immunodeficiency 17	Recurrent gastroenteritis, Recurrent otitis media, Chronic oral candidiasis, T lymphocytopenia, D...	OMIM:615607
Good Syndrome	Abnormal leukocyte morphology, Thymoma, Mediastinal lymphadenopathy, Aplasia/Hypoplasia of the th...	ORPHA:169105
Benign Cephalic Histiocytosis	Histiocytosis	ORPHA:157997
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Polyphagia, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Mast Cell Sarcoma	Mastocytosis, Sarcoma, Splenomegaly	ORPHA:66661
Mismatch Repair Cancer Syndrome 1	Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi...	OMIM:276300
Immunodeficiency, Common Variable, 14	Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM...	OMIM:617765
Spermatogenic Failure 32	Azoospermia, Infertility	OMIM:618115
Spermatogenic Failure 23	Azoospermia, Infertility	OMIM:617707
Immunodeficiency 57 With Autoinflammation	B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par...	OMIM:618108
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion...	OMIM:619846
46,Xy Sex Reversal 6	Chordee, Sex reversal, Hypospadias, Clitoral hypertrophy, Dysgerminoma, Gonadoblastoma	OMIM:613762
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Anisocytosis, Leukopenia, Multiple lineage myelodysplasia, Macrocytic anemia, Erythroid hypoplasi...	ORPHA:86841
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy...	ORPHA:231154
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland, Sarcoma	ORPHA:2762
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec...	OMIM:619281
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Neutropenia, ...	OMIM:618986
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat...	OMIM:619510
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Azoospermia, Male hypogonadism	OMIM:241000
Spermatogenic Failure 26	Infertility, Acephalic spermatozoa	OMIM:617961
Multiple Endocrine Neoplasia Type 4	Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A...	ORPHA:276152
Immunodeficiency 96	Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev...	OMIM:619774
Acute Promyelocytic Leukemia	Acute promyelocytic leukemia	OMIM:612376
Spermatogenic Failure 21	Infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Cowden-Like syndrome	Papillary thyroid carcinoma, Uterine leiomyoma, Endometrial carcinoma, Breast carcinoma	OMIM:612359
Wt Limb-Blood Syndrome	Hypoplastic anemia, Pancytopenia, Cryptorchidism, Thrombocytopenia, Leukemia	OMIM:194350
Chronic Myeloid Leukemia	Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo...	ORPHA:521
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent mycobacterial infections, Decreased lymphocyte proliferation in response to mitogen, Re...	ORPHA:911
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level...	OMIM:308230
Immunodeficiency 35	Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr...	OMIM:611521
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Decreased circulating antibody level, Recurrent infections, Partial absence o...	OMIM:618261
Gordon Holmes Syndrome	Infertility, Ataxia, Hypogonadotropic hypogonadism, Oligomenorrhea, Cerebellar atrophy	OMIM:212840
Hereditary Leiomyomatosis And Renal Cell Cancer	Esophageal neoplasm, Uterine leiomyoma, Barrett esophagus, Multiple cutaneous leiomyomas, Uterine...	ORPHA:523
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Recurrent candida infections, Increased circulating antibody level, Decreased lymphocyte prolifer...	ORPHA:169160
Growth Hormone Insensitivity Syndrome	Type II diabetes mellitus, Hypoglycemia, Fine hair, Hypogonadism, Insulin resistance, Diabetes me...	ORPHA:181393
Hemochromatosis, Type 2A	Amenorrhea, Infertility, Splenomegaly, Hypogonadotropic hypogonadism, Azoospermia, Lethargy	OMIM:602390
Colorectal Cancer, Susceptibility To, 10	Endometrial carcinoma, Colorectal polyposis, Carcinoma	OMIM:612591
Type 1 Diabetes Mellitus	Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus	OMIM:222100
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Lymphopenia, ...	OMIM:600802
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Panhypogammagl...	ORPHA:572
Fanconi Anemia, Complementation Group D1	T-cell acute lymphoblastic leukemias, Failure to thrive, Bone marrow hypocellularity, Chromosomal...	OMIM:605724
Spermatogenic Failure 8	Azoospermia, Oligospermia, Cryptozoospermia	OMIM:613957
Hyperinsulinism Due To Hnf1A Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Maturity-onset diabetes of the young, Ketotic hy...	ORPHA:324575
Ovarian Fibrothecoma	Diffuse leiomyomatosis, Fibrosarcoma, Abnormal endometrium morphology, Gonadal calcification, Ova...	ORPHA:314478
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Decreased circulating IgA level, Recurrent bacterial skin ...	ORPHA:276
Spermatogenic Failure 20	Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:617593
46,Xy Sex Reversal 7	Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the...	OMIM:233420
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Decreased circulating IgA level, Recurrent upper and lower respiratory tra...	ORPHA:331206
Autoimmune Lymphoproliferative Syndrome, Type Iia	Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos...	OMIM:603909
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c...	ORPHA:168563
Frasier Syndrome	Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis	OMIM:136680
Spermatogenic Failure 72	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s...	OMIM:619867
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Immunodeficiency 37	Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an...	OMIM:616098
Msh3-Related Attenuated Familial Adenomatous Polyposis	Adenomatous colonic polyposis, Papilloma, Neoplasm of the rectum, Multiple gastric polyps, Stomac...	ORPHA:480536
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen...	OMIM:617514
Body Mass Index Quantitative Trait Locus 20	Polyphagia, Hyperinsulinemia	OMIM:618406
Spermatogenic Failure 65	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced...	OMIM:619712
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr...	OMIM:614837
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Poikilocytosis, Hypogonadism, Azoos...	OMIM:615234
Hereditary Leiomyomatosis And Renal Cell Cancer	Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyoma,...	OMIM:150800
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp...	ORPHA:276580
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Renal cell carcinoma, Neopl...	OMIM:114500
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Lymphopenia, ...	ORPHA:35078
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Polyphagia, Hyperinsulinemia	ORPHA:329249
Spermatogenic Failure 63	Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility	OMIM:619689
Spermatogenic Failure 46	Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell...	OMIM:619095
Ovarian Fibroma	Odontogenic keratocysts of the jaw, Gonadal calcification, Basal cell carcinoma, Ovarian fibroma,...	ORPHA:314473
Addison Disease	Hypoparathyroidism, Thymoma, Decreased circulating aldosterone level, Failure to thrive, Decrease...	ORPHA:85138
Liposarcoma	Sarcoma	ORPHA:69078
Asherman Syndrome	Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr...	ORPHA:137686
Lhermitte-Duclos Disease	Neoplasm of the thyroid gland, Trichilemmoma, Ovarian neoplasm, Fibroadenoma of the breast	ORPHA:65285
Spermatogenic Failure 30	Azoospermia, Cryptozoospermia	OMIM:618110
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Recurrent fungal infections, Eosinophilia, Decreased circulating total IgM, Recurrent bacterial i...	OMIM:243700
Isolated Follicle Stimulating Hormone Deficiency	Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi...	ORPHA:52901
Oocyte Maturation Defect 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Spermatogenic Failure 56	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced...	OMIM:619515
Fetal Cytomegalovirus Syndrome	Anemia, Hepatomegaly, Splenomegaly	ORPHA:294
Immunodeficiency 68	Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia	OMIM:612260
Large Congenital Melanocytic Nevus	Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin	ORPHA:626
Acquired Idiopathic Sideroblastic Anemia	Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc...	ORPHA:75564
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Splenomegaly, Acute myelomonocytic leukemia, Abnormal macrophage morphology, ...	ORPHA:2585
Morbid Obesity And Spermatogenic Failure	Infertility, Type II diabetes mellitus, Azoospermia, Oligospermia, Obesity	OMIM:615703
Autoimmune Polyendocrinopathy Type 3	Thymoma, Graves disease, Hypergonadotropic hypogonadism, Leukopenia, Autoimmune thrombocytopenia,...	ORPHA:227982
Acquired Partial Lipodystrophy	Insulin resistance, Generalized hirsutism, Lipoatrophy	ORPHA:79087
Multiple Endocrine Neoplasia Type 1	Pituitary growth hormone cell adenoma, Increased serum serotonin, Impotence, Thymoma, Intestinal ...	ORPHA:652
Female Infertility Due To Oocyte Meiotic Arrest	Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis	ORPHA:488191
Werner Syndrome	Neoplasm, Acral lentiginous melanoma, Ovarian neoplasm, Thyroid carcinoma, Renal neoplasm, Cutane...	ORPHA:902
Spermatogenic Failure 43	Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai...	OMIM:618751
Spermatogenic Failure 49	Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe...	OMIM:619094
Spermatogenic Failure, X-Linked, 3	Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short...	OMIM:301059
Immunodeficiency 27A	Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T...	OMIM:209950
Autoimmune Polyendocrinopathy Type 4	Thymoma, Hypergonadotropic hypogonadism, Leukopenia, Autoimmune thrombocytopenia, Macrocytic anem...	ORPHA:227990
Obesity Due To Sim1 Deficiency	Glucose intolerance, Polyphagia, Hyperinsulinemia	ORPHA:369873
Spermatogenic Failure 54	Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel...	OMIM:619379
Fanconi Anemia, Complementation Group S	Failure to thrive, Ovarian neoplasm, Chromosome breakage, Breast carcinoma, Anemia	OMIM:617883
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia	Unilateral vestibular schwannoma, Carcinoma	OMIM:603641
Ataxia-Pancytopenia Syndrome	Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Pancytopenia, Anemia, Thrombocyto...	OMIM:159550
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Recurrent bronchopulmonary infections, Aplasia of the thymus, Abnormally low T cell ...	OMIM:242700
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo...	OMIM:609734
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility	OMIM:136580
Leptin Deficiency Or Dysfunction	Abnormal eating behavior, Polyphagia, Decreased serum leptin, Hypogonadism	OMIM:614962
Spermatogenic Failure 40	Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse...	OMIM:618664
Amed Syndrome, Digenic	Hypoplasia of the uterus, Leukopenia, Myelodysplasia, Anemia, Thrombocytopenia, Acute myeloid leu...	OMIM:619151
Immunodeficiency 67	Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig...	OMIM:607676
Immunodeficiency, Common Variable, 11	Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased...	OMIM:615767
Spermatogenic Failure 29	Azoospermia	OMIM:618091
Spermatogenic Failure 13	Azoospermia	OMIM:615841
Spermatogenic Failure 14	Azoospermia	OMIM:615842
Deleted in azoospermia	Azoospermia	OMIM:400003
Spermatogenic Failure 58	Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ...	OMIM:619585
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Abnormal e...	OMIM:614963
Myelofibrosis	Myeloproliferative disorder, Splenomegaly	OMIM:254450
Xeroderma Pigmentosum, Autosomal Dominant, Mild	Defective DNA repair after ultraviolet radiation damage, Neoplasm of the skin	OMIM:194400
Spermatogenic Failure 39	Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili...	OMIM:618643
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Generalized hirsut...	ORPHA:280365
Myasthenia, Limb-Girdle, Autoimmune	Thymoma, Neoplasm, Hashimoto thyroiditis	OMIM:159400
Lynch Syndrome	Neoplasm of the rectum, Neoplasm of the pancreas, Pituitary adenoma, Ovarian neoplasm, Neuroblast...	ORPHA:144
Normosmic Congenital Hypogonadotropic Hypogonadism	Increased female libido, Impotence, Hypoplasia of the ovary, Eunuchoid habitus, Hypoplasia of the...	ORPHA:432
Cowden Syndrome 1	Hydrocele testis, Lymphopenia, Breast carcinoma, Fibroadenoma of the breast, Ovarian cyst, Hamart...	OMIM:158350
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp...	ORPHA:276575
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Cryptorchidism, Testicular seminoma, Hypogonadism	ORPHA:281090
Obesity Due To Congenital Leptin Deficiency	Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad...	ORPHA:66628
Nijmegen Breakage Syndrome-Like Disorder	Chromosomal breakage induced by ionizing radiation	OMIM:613078
Oocyte Maturation Defect 10	Female infertility	OMIM:619176
Perrault Syndrome 4	Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Oligomenorrhea, Primary ame...	OMIM:615300
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Spermatogenic Failure 47	Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella	OMIM:619102
Spermatogenic Failure 42	Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma...	OMIM:618745
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge...	ORPHA:399808
Ataxia-Telangiectasia	Failure to thrive, Neoplasm, Type II diabetes mellitus, Lymphopenia, Delayed puberty, Diabetes me...	ORPHA:100
Schnitzler Syndrome	Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly	ORPHA:37748
Oocyte Maturation Defect 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte Maturation Defect 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Spermatogenic Failure, X-Linked, 2	Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Retinoblastoma	Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma	OMIM:180200
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia	OMIM:610582
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi...	OMIM:611102
Neutropenia, Severe Congenital, X-Linked	Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia	OMIM:300299
Obesity Due To Leptin Receptor Gene Deficiency	Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad...	ORPHA:179494
46,Xy Partial Gonadal Dysgenesis	Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h...	ORPHA:251510
Infantile Myofibromatosis	Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Fibroma, Benign neoplasm o...	ORPHA:2591
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le...	OMIM:619374
Fanconi Anemia, Complementation Group J	Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity	OMIM:609054
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ...	OMIM:228300
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Gait disturbance, Abnormality of the ovary, Decreased testicular size, Hypogonadism	ORPHA:1875
Rhabdoid Tumor	Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Anemia, Thrombocyt...	ORPHA:69077
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy	Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia	ORPHA:209004
Oocyte Maturation Defect 8	Female infertility	OMIM:619009
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Meningioma, Nephroblastoma	OMIM:602501
Oocyte Maturation Defect 12	Female infertility	OMIM:619697
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Type II diabetes mellitus, Hyperthyroidism, Iron deficiency anemia, Hypothyroidism, Prim...	OMIM:269200
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Spermatogenic Failure 11	Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility	OMIM:615081
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Attenuated Familial Adenomatous Polyposis	Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca...	ORPHA:220460
Muir-Torre Syndrome	Malignant genitourinary tract tumor, Neoplasm of the liver, Salivary gland neoplasm, Renal neopla...	ORPHA:587
Mandibuloacral Dysplasia	Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Spa...	ORPHA:2457
46,Xx Gonadal Dysgenesis	Ataxia, Streak ovary, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypoplasia of the uterus, S...	ORPHA:243
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul...	OMIM:229070
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Decreased circulating IgA level, Reduced natural killer cell count, Increased circulating IgM lev...	OMIM:242860
Immunodeficiency, Common Variable, 7	Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin...	OMIM:614699
Lipodystrophy, Familial Partial, Type 1	Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ...	OMIM:608600
Autosomal Dominant Severe Congenital Neutropenia	Lymphopenia, Hemangioma, Eosinophilia, Monocytosis, Aplastic anemia, Myelodysplasia, Neutropenia,...	ORPHA:486
Myasthenia Gravis	Thymoma, Abnormality of the endocrine system	OMIM:254200
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating...	OMIM:108420
Apc-Related Attenuated Familial Adenomatous Polyposis	Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod...	ORPHA:247806
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Recurrent urinary tract infections, Increased circulating IgG level, Recurrent otit...	OMIM:618495
Male Infertility Due To Acephalic Spermatozoa	Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid...	ORPHA:529970
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp...	OMIM:617006
Spermatogenic Failure 41	Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head	OMIM:618670
Scleroderma, Familial Progressive	Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Thymoma, Diffuse cerebellar atrophy, Malignant genitourinary tract tumo...	ORPHA:71505
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Proteasome-Associated Autoinflammatory Syndrome 2	Increased circulating IgA level, Abnormal circulating IgM level, Recurrent viral infections, Recu...	OMIM:618048
Spermatogenic Failure 1	Cryptozoospermia, Oligospermia, Male infertility	OMIM:258150
Persistent Mullerian Duct Syndrome, Types I And Ii	Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility	OMIM:261550
Ring Chromosome 21 Syndrome	Amenorrhea, Infertility, Gait disturbance, Azoospermia, Diabetes insipidus	ORPHA:1445
Premature Ovarian Failure 19	Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency	OMIM:619245
Spermatogenic Failure 7	Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility	OMIM:612997
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Lipodystrophy, Diabetes mellitus	OMIM:615980
Selective Igm Deficiency	Onychomycosis, Recurrent infection of the gastrointestinal tract, Sepsis, Decreased specific anti...	ORPHA:331235
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Immotile sperm, Abnormal sperm morphology	OMIM:608653
48,Xxyy Syndrome	Infertility, Ataxia, Type II diabetes mellitus, Azoospermia, Hypoplasia of penis, Hypergonadotrop...	ORPHA:10
Leiomyoma, Uterine	Uterine leiomyoma	OMIM:150699
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Testicular atrophy, Ataxia, Decreased serum testosterone concentration, Eunuchoid habitus, Leydig...	OMIM:308700
Partial Androgen Insensitivity Syndrome	Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito...	ORPHA:90797
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Precocious puberty, Ovarian neoplasm, Peripheral primitive neuroectoder...	ORPHA:370348
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon...	OMIM:300510
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Obstructive azoospermia, Spermatocele	OMIM:301060
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Neutropenia, Chromosomal breakage induced by crosslinking agents, An...	OMIM:617243
Xeroderma Pigmentosum, Complementation Group F	Ataxia, Keratoacanthoma, Squamous cell carcinoma, Tremor, Deficient excision of UV-induced pyrimi...	OMIM:278760
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Insulinomatosis And Diabetes Mellitus	Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance	OMIM:147630
X-Linked Lymphoproliferative Disease	Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P...	ORPHA:2442
Hyperinsulinism Due To Ucp2 Deficiency	Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce...	ORPHA:276556
Spermatogenic Failure 15	Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating...	OMIM:616950
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Decr...	OMIM:616100
Macrosomia Adiposa Congenita	Adrenocortical adenoma, Polyphagia, Eosinophilia	OMIM:248100
Premature Ovarian Failure 10	Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo...	OMIM:612885
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Neutrophilia, Leukocytosis, Increased circulating IgM level, Inc...	OMIM:617099
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased specific anti-polysaccharide antibody level, Recurrent upper and lower respiratory trac...	ORPHA:70593
Legius Syndrome	Ovarian neoplasm, Male urethral meatus stenosis, Acute monocytic leukemia, Desmoid tumors, Nephro...	ORPHA:137605
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant	Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat...	OMIM:619752
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Gen...	ORPHA:363400
Exostoses, Multiple, Type Ii	Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses	OMIM:133701
Exostoses, Multiple, Type I	Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses	OMIM:133700
Teratoma, Ovarian	Ovarian teratoma	OMIM:166950
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an...	ORPHA:444463
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Obesity	ORPHA:2183
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus	ORPHA:90301
Fanconi Anemia, Complementation Group O	Cryptorchidism, Chromosome breakage, External genital hypoplasia	OMIM:613390
Wiskott-Aldrich Syndrome	Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decreased ci...	OMIM:301000
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Bloom Syndrome	Type II diabetes mellitus, Chromosome breakage, Small for gestational age, Elevated hemoglobin A1...	OMIM:210900
Immunodeficiency 46	Chronic oral candidiasis, Sepsis, Decreased circulating antibody level, Intermittent thrombocytop...	OMIM:616740
Fanconi Anemia, Complementation Group A	Cryptorchidism, Small for gestational age, Hypergonadotropic hypogonadism, Thrombocytopenia, Panc...	OMIM:227650
Spermatogenic Failure 5	Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa	OMIM:243060
Plin1-Related Familial Partial Lipodystrophy	Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ...	ORPHA:280356
Essential Thrombocythemia	Myelodysplasia, Acute leukemia, Abnormal platelet morphology, Splenomegaly	ORPHA:3318
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi...	OMIM:614841
Mantle Cell Lymphoma	B-cell lymphoma, Lymphadenopathy, Splenomegaly	ORPHA:52416
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Absent isohemagglutinin level, Splenomegaly, Increased prop...	OMIM:615559
Hyperprolactinemia	Infertility, Oligomenorrhea, Menorrhagia	OMIM:615555
Polyendocrine-Polyneuropathy Syndrome	Ataxia, Short stature, Cerebellar hypoplasia, Hypogonadism, Postnatal growth retardation	OMIM:616113
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells	OMIM:615758
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Immunodeficiency 23	Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Recurrent staphylococcal inf...	OMIM:615816
49,Xyyyy Syndrome	Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo...	ORPHA:99330
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism, Folate-dependent fragile site at Xq28	OMIM:300624
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,...	ORPHA:454840
Spermatogenic Failure 64	Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility	OMIM:619696
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr...	OMIM:619705
Ectopic Aldosterone-Producing Tumor	Ovarian neoplasm, Renal cortical adenoma	ORPHA:231632
Thymoma	Neoplasm, Neoplasm of the lung, Non-Hodgkin lymphoma, Neoplasm of the gastrointestinal tract, Pro...	ORPHA:99867
Systemic Mastocytosis With Associated Hematologic Neoplasm	Multiple myeloma, Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myelop...	ORPHA:98849
Young Syndrome	Azoospermia	OMIM:279000
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi...	OMIM:618394
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1	Aplastic anemia, Myeloid leukemia, Myelodysplasia, Pancytopenia, Anemia	OMIM:614742
Premature Ovarian Failure 6	Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm...	OMIM:612310
Familial Pancreatic Carcinoma	Neoplasm of the liver, Breast carcinoma, Melanoma, Hepatosplenomegaly, Ovarian carcinoma, Periton...	ORPHA:1333
47,Xyy Syndrome	Increased circulating gonadotropin level, Increased serum testosterone level, Micropenis, Hypospa...	ORPHA:8
Chilblain Lupus	Chronic myelomonocytic leukemia	ORPHA:90280
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Gardner Syndrome	Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci...	ORPHA:79665
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame...	OMIM:617565
Spermatogenic Failure 51	Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot...	OMIM:619177
Mitochondrial Complex Iv Deficiency, Nuclear Type 16

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