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Gene: Atm MGI:107202

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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

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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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
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 2
Type I diabetes mellitus OMIM:125852
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 determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can... OMIM:242870
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Myofibromatosis, Infantile, 1
Myofibromatosis, Fibroma OMIM:228550
Ovarian Cancer
Ovarian papillary adenocarcinoma, Breast carcinoma, Dysgerminoma OMIM:167000
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Abnormal fallopian tube morphology, Primary peritoneal carcinoma, Ovar... ORPHA:145
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
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
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation OMIM:131440
Immunodeficiency 15A
Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Dec... OMIM:618204
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... ORPHA:157798
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, B lymphocyt... OMIM:233650
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Thyroid Cancer, Nonmedullary, 4
Goiter, Prostate cancer, Papillary thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm OMIM:616534
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Recurrent sinusitis,... OMIM:613494
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Abs... OMIM:608957
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia, ... OMIM:133180
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus OMIM:612227
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count, Recurrent ... OMIM:613495
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukemia, Leukopenia OMIM:620400
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer OMIM:619096
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Histiocytosis, Familial Lipochrome
Recurrent infections, Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia, Myelodysplasia OMIM:252270
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 112
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent viral infections, C... OMIM:620449
Immunodeficiency 25
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n... OMIM:610163
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis OMIM:246470
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 48
Panhypogammaglobulinemia, Recurrent candida infections, Abnormal B cell count, Splenomegaly, Impa... OMIM:269840
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Immunodeficiency 8 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent otitis media, Lymphopenia, Complete or ne... OMIM:615401
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Immunodeficiency 50
Recurrent urinary tract infections, Lymphopenia, Neutropenia, Recurrent respiratory infections, D... OMIM:300988
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Dec... ORPHA:169154
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Recurrent infections, Lymphocytosis, Splenomegaly OMIM:606445
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Multiple Symmetric Lipomatosis
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... OMIM:614350
Maffucci Syndrome
Pituitary adenoma, Goiter, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, A... ORPHA:163634
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
N Syndrome
Leukemia, Neoplasm, Hypospadias, Cryptorchidism OMIM:310465
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Recurrent bacterial... OMIM:613500
Glioma Susceptibility 3
T-cell acute lymphoblastic leukemias, B Acute Lymphoblastic Leukemia, Medulloblastoma, Nephroblas... OMIM:613029
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Rhabdomyosarcoma, Embryonal, 2
Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Nephroblastoma, Multinodular goiter, Embryonal... OMIM:180295
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infe... ORPHA:2688
B-Cell Expansion With Nfkb And T-Cell Anergy
Recurrent infections, Decreased specific antibody response to polysaccharide vaccine, Decreased c... OMIM:616452
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Recurrent lower re... OMIM:619220
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Recurrent upper respirat... OMIM:618459
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Decreased proportion of CD8-positive T cells, Reduced delayed hy... OMIM:617241
Muir-Torre Syndrome
Sebaceous gland carcinoma, Colon cancer, Malignant genitourinary tract tumor, Duodenal adenocarci... OMIM:158320
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, B lymphocy... OMIM:618987
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Tumor Predisposition Syndrome 2
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... OMIM:619975
Subependymoma
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... ORPHA:251639
Ependymoma
Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian neoplasm, ... ORPHA:251636
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... OMIM:617514
Desmoid Disease, Hereditary
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Squamous cell carcinoma, Ovarian neoplasm ORPHA:50944
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Thrombocytopenia, Leukemia, Myelodysplasia OMIM:614082
Immunodeficiency 95
Decreased circulating IgG3 level, Recurrent viral pneumonia, Lymphopenia, Recurrent viral upper r... OMIM:619773
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ... ORPHA:98797
Transcobalamin Deficiency
Decreased circulating IgG level, Abnormality of chromosome stability, Lymphopenia, Pancytopenia, ... ORPHA:859
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Decreased circul... OMIM:619924
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Cernunnos-Xlf Deficiency
Recurrent viral infections, Lymphopenia, T lymphocytopenia, Recurrent bacterial infections, Throm... ORPHA:169079
Papular Xanthoma
Histiocytosis ORPHA:158008
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue ORPHA:71529
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... ORPHA:435660
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Agammaglob... OMIM:300400
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Breast Cancer
Breast carcinoma OMIM:114480
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Recurrent infections, Decreased circulating antib... OMIM:616911
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Lymphoma, Leukopenia, Acute myeloid leukemia, Monocytosis, Myelodysplasia, Refractory anemia OMIM:616871
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulin... OMIM:615214
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Lymphopenia, Decre... OMIM:616005
Lymphedema, Primary, With Myelodysplasia
Verrucae, Pancytopenia, Decreased CD4:CD8 ratio, Acute myeloid leukemia, Leukemia, Myelodysplasia OMIM:614038
Paraneoplastic Pemphigus
Thymoma, B-cell lymphoma, Sarcoma ORPHA:63455
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Loss of gluteal subcutaneous ad... ORPHA:435651
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media, Recurrent infections, B lymphocytopenia OMIM:616941
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Lipodystrophy, Decreased serum leptin, Diabetic ketoacidosis OMIM:615238
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Thymoma, Familial
Thymoma, Neoplasm OMIM:274230
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosi... OMIM:267500
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Anemia, Sarcoma, Ovarian neoplasm, Neoplasm of the pancreas, Neoplasm of the... ORPHA:83469
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... OMIM:308240
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Chronic mucocutaneous candid... ORPHA:98813
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... ORPHA:231401
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia ORPHA:98827
Dermatofibrosarcoma Protuberans
Neoplasm of the skin, Fibrosarcoma ORPHA:31112
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia, Recurrent bronchopulmonary infections OMIM:610798
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocyto... OMIM:619041
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... OMIM:607271
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia OMIM:610738
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Leukemia, Pancytopenia, Aplastic anemia, Myeloid leukemia OMIM:614743
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion ... OMIM:601859
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Lymphopr... OMIM:614470
Acquired Ichthyosis
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma ORPHA:454
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent infections, Increased circulating IgE level, Recurrent otitis media, Hepatosplenomegaly... OMIM:618982
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Lymphopenia, Verrucae, T lymphocytopenia OMIM:618309
Primary Erythromelalgia
Leukemia ORPHA:90026
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Premature Ovarian Failure 8
Elevated circulating luteinizing hormone level, Ovarian neoplasm, Streak ovary, Elevated circulat... OMIM:615723
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Chronic myelomonocytic leukemia, Acute myeloid leukemia OMIM:616604
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Recurrent upper respiratory tract infections, Recurrent pneumoni... ORPHA:277
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Cutaneous abscess,... OMIM:618944
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Immunodeficiency 104
Chronic mucocutaneous candidiasis, Failure to thrive secondary to recurrent infections, Recurrent... OMIM:608971
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid leukemia, Hem... ORPHA:158057
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Absent circulating B cells, Neu... OMIM:613501
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71526
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Diabetes mellitus, Lipoatrophy ORPHA:79084
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, B lymphocytopenia, Myelo... OMIM:614172
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Cutaneous Neuroendocrine Carcinoma
Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Merkel cell skin cancer, Carcinoi... ORPHA:79140
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Immunodeficiency 54
Chromosome breakage, Reduced natural killer cell count, Failure to thrive, Adrenal insufficiency,... OMIM:609981
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent infection of the gastr... OMIM:609529
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:607594
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia, Abnormality of chromosome stability OMIM:600546
Ollier Disease
Precocious puberty, Neoplasm, Hemangioma, Anemia, Sarcoma, Multiple enchondromatosis, Visceral an... ORPHA:296
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp... OMIM:602450
Immunodeficiency 17
Abnormal B cell morphology, Chronic decreased circulating IgG2, Decreased proportion of CD8-posit... OMIM:615607
Leukemia, Chronic Myeloid
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia OMIM:608232
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spinocerebellar Ataxia 32
Cerebellar atrophy, Azoospermia, Ataxia, Testicular atrophy, Infertility OMIM:613909
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Myelodysplasia OMIM:185050
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgE level, Recurr... ORPHA:217390
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Decreased testicular size, Non-obstructive azoospermia, Azoospermia, Abn... ORPHA:399805
Spinocerebellar Ataxia Type 32
Cerebellar atrophy, Azoospermia, Testicular atrophy, Male infertility, Progressive cerebellar ataxia ORPHA:276183
46,Xy Sex Reversal 6
Sex reversal, Clitoral hypertrophy, Gonadal dysgenesis, Chordee, Gonadoblastoma, Hypospadias, Dys... OMIM:613762
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus OMIM:613877
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Hyperinsulinemia, Polyphagia ORPHA:329249
Good Syndrome
Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Anemi... ORPHA:169105
Acquired Hypertrichosis Lanuginosa
Neoplasm of the respiratory system, Neoplasm, Neoplasm of the breast, Ovarian neoplasm ORPHA:2221
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent viral infections, Decreased specific anti-polysaccharide antibody level, Recurrent otit... OMIM:300853
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Recurrent opportun... OMIM:601457
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Neoplasm of the thyroid gland, Ovarian neoplasm, Hamartoma, Neoplasm of th... ORPHA:137608
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Mismatch Repair Cancer Syndrome 1
Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ... OMIM:276300
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Increased circulating IgE level, Decrease... OMIM:615767
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage, Spasticity, Tremor, Ataxia OMIM:278780
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Abnormal neutrophil morphology, Leukopenia, Myelodysplasia, Abnormal erythrocyte morphology, Macr... ORPHA:86841
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... OMIM:615285
Mast Cell Sarcoma
Mastocytosis, Sarcoma, Splenomegaly ORPHA:66661
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Reduced subcutaneous adipose tissue, Hirsutism, Li... OMIM:612526
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Recurrent bacteria... OMIM:300310
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, Splenomegaly... ORPHA:397596
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
46,Xy Sex Reversal 10
Sex reversal, Small scrotum, Perineal hypospadias, Bifid scrotum, Gonadal dysgenesis, Decreased t... OMIM:616425
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Absent specific antibody respo... OMIM:619846
Progressive Osseous Heteroplasia
Sarcoma, Abnormality of the parathyroid gland ORPHA:2762
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Impaired T cell func... OMIM:240500
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Thrombocyt... OMIM:619281
Nijmegen Breakage Syndrome-Like Disorder
Decreased circulating antibody level, Chromosomal breakage induced by ionizing radiation OMIM:613078
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Sepsis, Impaired memory B cell generation, Abnormal circulating ... OMIM:308230
Immunodeficiency 84
Perianal abscess, B-cell lymphoma, Splenomegaly, B lymphocytopenia OMIM:619437
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Immunodeficiency 67
Recurrent staphylococcal infections, Abnormal T cell count, Increased circulating IgE level, Tran... OMIM:607676
Cortisone Reductase Deficiency 2
Insulin resistance OMIM:614662
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Cowden-Like syndrome
Endometrial carcinoma, Papillary thyroid carcinoma, Breast carcinoma, Uterine leiomyoma OMIM:612359
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Decreased lymphocyte proliferation in response to mitogen, Re... ORPHA:911
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Polyphagia, Hyperinsulinemia, Increased serum leptin OMIM:617885
Obesity And Hypopigmentation
Red hair, Hyperinsulinemia, Polyphagia OMIM:620195
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ... ORPHA:523
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... ORPHA:276152
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Increased B cell count, Splenomega... OMIM:603909
Fanconi Anemia, Complementation Group D1
Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias, Failure to thrive, Acute myelo... OMIM:605724
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Decreased ... ORPHA:276
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Excessive insul... ORPHA:324575
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Hemochromatosis, Type 2A
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Lethargy, Amenorrhea, Infertility OMIM:602390
Type 1 Diabetes Mellitus
Hyperglycemia, Polydipsia, Diabetes mellitus, Polyphagia OMIM:222100
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Recurrent viral infections, Splenomegaly, Partial absence of spe... OMIM:620632
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Diffuse leiomyomatosis, Abnormal endometrium mor... ORPHA:314478
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:169160
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Obesity Due To Sim1 Deficiency
Attention deficit hyperactivity disorder, Polyphagia, Hyperinsulinemia, Glucose intolerance ORPHA:369873
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Recurrent viral infections, Pancytopenia... ORPHA:572
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, De... OMIM:616098
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... ORPHA:331206
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276580
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Frasier Syndrome
Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis OMIM:136680
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po... ORPHA:480536
Fanconi Anemia, Complementation Group T
Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:616435
Large Congenital Melanocytic Nevus
Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma ORPHA:626
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyoma, Cutaneous leiomyosarcoma, Renal cell carcinoma, Multiple cutaneous leiomyoma... OMIM:150800
Liposarcoma
Sarcoma ORPHA:69078
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c... OMIM:114500
Addison Disease
Normocytic anemia, Thymoma, Type I diabetes mellitus, Failure to thrive, Androgen insufficiency, ... ORPHA:85138
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Odontogenic keratocysts of the ... ORPHA:314473
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer cells, Decr... OMIM:600802
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytosis, Anemia, Increased circulating IgG... OMIM:209950
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
46,Xy Sex Reversal 7
Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon... OMIM:233420
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Werner Syndrome
Gastrointestinal carcinoma, Cutaneous melanoma, Neoplasm of the oral cavity, Meningioma, Acral le... ORPHA:902
Autoimmune Polyendocrinopathy Type 3
Thymoma, Aplasia/Hypoplasia of the spleen, Type I diabetes mellitus, Graves disease, Non-caseatin... ORPHA:227982
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia OMIM:618406
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:309120
Autoimmune Polyendocrinopathy Type 4
Thymoma, Aplasia/Hypoplasia of the spleen, Type I diabetes mellitus, Non-caseating epithelioid ce... ORPHA:227990
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Morbid Obesity And Spermatogenic Failure
Azoospermia, Obesity, Type II diabetes mellitus, Oligozoospermia, Infertility OMIM:615703
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Leptin Receptor Deficiency
Decreased response to growth hormone stimulation test, Abnormal eating behavior, Aggressive behav... OMIM:614963
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Generalized hirsutism ORPHA:79087
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Lhermitte-Duclos Disease
Fibroadenoma of the breast, Trichilemmoma, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Recurrent viral infect... OMIM:242700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:35078
Amed Syndrome, Digenic
Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypoplasia of the uterus, Myelodysp... OMIM:619151
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Fanconi Anemia, Complementation Group S
Chromosome breakage, Failure to thrive, Ovarian carcinoma, Anemia, Ovarian neoplasm, Breast carci... OMIM:617883
Lynch Syndrome
Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop... ORPHA:144
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Syndromic Recessive X-Linked Ichthyosis
Hypogonadism, Acute leukemia, Cryptorchidism, Testicular seminoma ORPHA:281090
Deleted in azoospermia
Azoospermia OMIM:400003
Ataxia-Telangiectasia
Abnormality of chromosome stability, Aplasia/Hypoplasia of the thymus, Failure to thrive, Lymphop... ORPHA:100
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp... ORPHA:276575
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... ORPHA:432
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Premat... ORPHA:280365
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Myasthenia, Limb-Girdle, Autoimmune
Hashimoto thyroiditis, Thymoma, Neoplasm OMIM:159400
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Gait ataxia, Hypoplasia of the ovary, Oligomenorrhea, Primary... OMIM:615300
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents OMIM:609054
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Cowden Syndrome 1
Varicocele, Thyroid adenoma, Subcutaneous lipoma, Meningioma, Goiter, Fibroadenoma of the breast,... OMIM:158350
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Retinoblastoma
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma OMIM:180200
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Hyperprolactinemia
Oligomenorrhea, Increased circulating prolactin concentration, Female infertility, Menorrhagia OMIM:615555
Schnitzler Syndrome
Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly ORPHA:37748
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Gordon Holmes Syndrome
Ataxia, Cerebellar atrophy, Absence of pubertal development, Chorea, Hypogonadotropic hypogonadis... OMIM:212840
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Infantile Myofibromatosis
Neoplasm of the skin, Benign neoplasm of the central nervous system, Fibroma, Sarcoma, Gingival f... ORPHA:2591
Neutrophilia, Hereditary
Myelodysplasia, Splenomegaly, Neutrophilia OMIM:162830
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Myelodysplasia, Hemangioma, Acute myeloid leukemia, Eosinophilia, N... ORPHA:486
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Recurrent respir... OMIM:614699
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia ORPHA:209004
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Meningioma OMIM:602501
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
46,Xx Gonadal Dysgenesis
Ataxia, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak o... ORPHA:243
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Reduced subcutaneous adipose tis... ORPHA:363400
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Primary adrenal insufficiency, Type II diabetes mellitus, Hypothyroidism, Iron deficienc... OMIM:269200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Decreased circulating IgA level, Increased circulating IgM lev... OMIM:242860
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Female infertility, Primary amenorrhea OMIM:300604
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent candida ... OMIM:614069
Cancer-Associated Retinopathy
Diffuse cerebellar atrophy, Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melan... ORPHA:71505
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent urinary tract infections, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly... OMIM:618495
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Myasthenia Gravis
Thymoma, Abnormality of the endocrine system OMIM:254200
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Rhabdoid Tumor
Anemia, Neoplasm of the liver, Thrombocytopenia, Renal neoplasm, Sarcoma, Neoplasm of the central... ORPHA:69077
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Thrombocytopeni... OMIM:617243
Myelofibrosis
Splenomegaly, Myeloproliferative disorder, Hemophagocytosis, Extramedullary hematopoiesis OMIM:254450
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with phytohema... OMIM:617006
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Insulin-resistant diabetes mellitus, Increased fac... OMIM:608600
48,Xxyy Syndrome
Lymphoma, Decreased testicular size, Azoospermia, Obesity, Type II diabetes mellitus, Cryptorchid... ORPHA:10
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Excessive... ORPHA:276556
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Mandibuloacral Dysplasia
Insulin resistance, Alopecia, Increased subcutaneous truncal adipose tissue, Contractures of the ... ORPHA:2457
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Recurrent bronchitis, Tooth abscess, Autoimmune thr... ORPHA:331235
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Neoplasm of the scrotum, Uterine neoplasm, Neoplasm of the pancreas, Brain ne... ORPHA:370348
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... OMIM:229070
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis, Myelody... ORPHA:3318
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Male infertility, Pancytopenia, Crypto... OMIM:227650
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Lymphoma, Azoospermia, Type II diabetes... OMIM:210900
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Persistent Mullerian Duct Syndrome, Types I And Ii
Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism OMIM:261550
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Recurrent viral infections, Abnormal circulating IgM leve... OMIM:618048
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Ring Chromosome 21 Syndrome
Azoospermia, Amenorrhea, Gait disturbance, Infertility, Diabetes insipidus ORPHA:1445
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Lipodystrophy, Diabetes mellitus OMIM:615980
Xeroderma Pigmentosum, Complementation Group F
Neoplasm of the skin, Deficient excision of UV-induced pyrimidine dimers in DNA, Tremor, Squamous... OMIM:278760
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Decreased serum leptin OMIM:614962
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Spl... OMIM:620210
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Aplastic anemia, Pancytopenia, Myeloid leukemia, Anemia, Myelodysplasia OMIM:614742
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi... OMIM:612885
Exostoses, Multiple, Type Ii
Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma OMIM:133701
Exostoses, Multiple, Type I
Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma OMIM:133700
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism ORPHA:2183
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Immunodeficiency 46
Sepsis, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidiasis, Anemia, Decrea... OMIM:616740
Immunodeficiency 23
Recurrent staphylococcal infections, Chronic mucocutaneous candidiasis, Recurrent respiratory inf... OMIM:615816
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Neut... OMIM:617099
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance OMIM:147630
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent upper respiratory t... OMIM:619752
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Lymphopeni... OMIM:616100
Legius Syndrome
Acute monocytic leukemia, Male urethral meatus stenosis, Vestibular schwannoma, Nephroblastoma, M... ORPHA:137605
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Wiskott-Aldrich Syndrome
Increased circulating IgE level, Abnormal delayed hypersensitivity skin test, Lymphopenia, Decrea... OMIM:301000
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus ORPHA:90301
Fragile X Syndrome
Macroorchidism, postpubertal, Congenital macroorchidism, Folate-dependent fragile site at Xq28 OMIM:300624
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Cryptorchidism, Anemia, ... OMIM:600901
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Ectopic Aldosterone-Producing Tumor
Ovarian neoplasm, Renal cortical adenoma ORPHA:231632
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of head and neck, Neoplasm of the thyr... ORPHA:99867
Fanconi Anemia, Complementation Group O
Chromosome breakage, External genital hypoplasia, Cryptorchidism OMIM:613390
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Chilblain Lupus
Chronic myelomonocytic leukemia ORPHA:90280
Boutonneuse Fever
Increased circulating IgG level, Leukopenia, Increased circulating IgM level, Thrombocytopenia ORPHA:83313
Mantle Cell Lymphoma
B-cell lymphoma, Splenomegaly, Lymphadenopathy ORPHA:52416
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre... OMIM:618086
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissu... ORPHA:280356
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Lymphoma, Chronic myelomonocytic leukemia, Myelodysplasia, Leukocytosis, Splen... ORPHA:98849
Spermatogenic Failure 17
Male infertility OMIM:617214
47,Xyy Syndrome
Varicocele, Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Azoospermia, Cryptorchidis... ORPHA:8
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Cerebellar atrophy, Chromosomal breakage induced by crosslinking agents, Failure to thrive, Decre... OMIM:619060
Young Syndrome
Azoospermia OMIM:279000
Immunodeficiency 22
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:615758
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Decreased circulating Ig... OMIM:618394
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Familial Adenomatous Polyposis 3
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... OMIM:616415
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphoma OMIM:619126
Bone Marrow Failure Syndrome 3
Chromosome breakage, Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular vol... OMIM:617052
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Thymic Neuroendocrine Tumor
Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa... ORPHA:97289
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Recurrent viral infections, Decreased speci... OMIM:606367
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Gait disturbance ORPHA:1875
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Kennedy Disease
Type II diabetes mellitus, Decreased fertility, Gait disturbance, Testicular atrophy, Erectile dy... ORPHA:481
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Male hypogonadism, Lipodystrophy, Loss of subcutaneous adipose tissue in limb... OMIM:615381
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro... ORPHA:3226
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis ORPHA:86843
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Hemochromatosis, Type 1
Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Hepatocellular carcinoma, T... OMIM:235200
Familial Pancreatic Carcinoma
Peritoneal abscess, Colon cancer, Pancreatic adenocarcinoma, Hepatosplenomegaly, Ovarian carcinom... ORPHA:1333
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Graves Disease
Graves disease, Goiter, Increased circulating free T3, Polyphagia, Increased circulating free T4 ... OMIM:275000
Purine Nucleoside Phosphorylase Deficiency
Lymphoma, Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Neutrope... OMIM:613179
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Turcot Syndrome With Polyposis
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast... ORPHA:99818
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytope... OMIM:227645
Adrenal Hypoplasia, Congenital
Precocious puberty, Failure to thrive, Absence of pubertal development, Adrenal insufficiency, Pr... OMIM:300200
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Abnormal internal genitalia, Primary amenorrhea, Fema... ORPHA:755
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Enteroviral dermatomyositis syndrom... OMIM:300755
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Reduced natural killer cell count, Recurrent viral infections, Recurrent pneumonia, Cutaneous abs... OMIM:243700
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Esophageal neoplasm, Neoplasm of the small intestine, Gastrointestinal str... ORPHA:44890
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Failure to thrive, Microphallus, Decreased response to growth hormon... OMIM:603467
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
48,Xyyy Syndrome
Male hypogonadism, Primary gonadal insufficiency, Azoospermia ORPHA:99329
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Adrenal insufficiency, Decreased growth ho... OMIM:609734
Spermatogenic Failure 44
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Nasu-Hakola Disease
Acute leukemia ORPHA:2770
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone... OMIM:617442
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating prolactin conc... ORPHA:1359
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Classic Galactosemia
Ataxia, Gait imbalance, Cryptorchidism, Lethargy, Decreased fertility in females, Oligomenorrhea,... ORPHA:79239
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammaglobulinemia, Increased c... OMIM:300291
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm, Abnormal salivary gland morphology ORPHA:1221
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia OMIM:608898
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Splenomegaly, Increased circulating antibody level ORPHA:100024
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Increased circulating IgE level, Lymphopenia,... ORPHA:443811
Basal Cell Nevus Syndrome 2
Neurofibroma, Meningioma, Medulloblastoma, Angiofibromas, Basal cell carcinoma OMIM:620343
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... ORPHA:543
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Chiari malformation, Decreased response to growth hormone stimulatio... OMIM:609053
Mirage Syndrome
Microphallus, Decreased testicular size, Lymphopenia, Leukopenia, Intrauterine growth retardation... OMIM:617053
Renal Glucosuria
Polyphagia, Polydipsia, Glycosuria OMIM:233100
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Yellow Nail Syndrome
Biliary tract neoplasm, Neoplasm, Renal neoplasm, Sarcoma, Neoplasm of the lung ORPHA:662
Fanconi Anemia, Complementation Group P
Pancytopenia, Cryptorchidism, Squamous cell carcinoma, Chromosomal breakage induced by crosslinki... OMIM:613951
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hypochromia, Poikilocytosis, Anemi... OMIM:615234
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... ORPHA:86839
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent mycobacterial infections, Recurrent viral infections, ... ORPHA:275
Pyoderma Gangrenosum
Myelodysplasia, Myeloid leukemia ORPHA:48104
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating IgA level, Decreased proportion of class-switched memory B c... OMIM:614878
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Temple Syndrome
Precocious puberty, Recurrent hypoglycemia, Decreased response to growth hormone stimulation test... ORPHA:254516
Congenital Generalized Lipodystrophy
Insulin resistance, Precocious puberty in females, Hypertrichosis, Hyperinsulinemia, Low anterior... ORPHA:528
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Familial Partial Lipodystrophy, Dunnigan Type
Insulin resistance, Cellulitis, Generalized hirsutism, Lipodystrophy, Loss of subcutaneous adipos... ORPHA:2348
Familial Adenomatous Polyposis 4
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Astrocytoma, Breast in... OMIM:617100
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Generaliz... ORPHA:79083
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cerebellar cyst, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Whim Syndrome 1
Decreased circulating IgG level, Verrucae, Abnormal morphology of female internal genitalia, Abno... OMIM:193670
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Macroorchidism ORPHA:908
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Cerebellar atrophy, Pancytopenia,... OMIM:620133
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Lymphoproliferative disorder, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90033
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Recurrent... ORPHA:79124
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Patent ductus arteriosus, Absent outer dynein arms OMIM:618300
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Deficient excision of UV-induced pyrimidine dimers in DNA, Annular p... OMIM:227646
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Lig4 Syndrome
Acute leukemia, Abnormality of chromosome stability, Lymphoma, Pancytopenia, Type II diabetes mel... ORPHA:99812
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Infertility, Menorrhagia ORPHA:397685
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level, Recurrent bacterial infections OMIM:300636
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance OMIM:620639
Ataxia-Telangiectasia
Failure to thrive, Lymphoma, Inability to walk, Lymphopenia, Decreased proportion of CD4-positive... OMIM:208900
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Hypoplasia of the ... OMIM:612782
Retinoblastoma
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi... ORPHA:790
Full Schwannomatosis
Peripheral schwannoma, Meningioma, Lumbosacral hemangioma, Schwannoma, Neoplasm, Neoplasm of the ... ORPHA:93921
14Q11.2 Microduplication Syndrome
Highly arched eyebrow, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggr... ORPHA:261229
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Nephroblastoma, Ambiguous genitalia, male, Male pseudohe... ORPHA:347
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Cryptorchidism, Nep... OMIM:194072
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia ORPHA:514
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM OMIM:617638
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Intrauterine growth retardation, Splenomegaly OMIM:608540
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Mega... OMIM:620603
Desmoid Tumor
Neoplasm of the skin, Intestinal polyposis, Fibroma, Desmoid tumors ORPHA:873
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Broad-based gait, Small for gestational age, Insulin-resistant diabete... ORPHA:2959
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Lymphoma, Abnormal dense granule content, Abnormal platelet shape, Acut... OMIM:601399
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
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Chronic oral candidiasis, Neu... OMIM:150550
Pleuropulmonary Blastoma
Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma OMIM:601200
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia, Recurrent viral infections, Recurrent respiratory ... OMIM:620532
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Recurrent viral infections, Recurrent pneumonia, Chronic mucocutaneous ... OMIM:102700
Premature Ovarian Failure 22
Female infertility, Elevated circulating follicle stimulating hormone level, Premature ovarian in... OMIM:620548
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:300861
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis OMIM:612591
Immunodeficiency 40
Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Reduced antigen-specific T c... OMIM:616433
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo... OMIM:308750
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Sepsis, Leukopenia, Splenomegaly, Recurrent bro... OMIM:617303
Ring Chromosome 22 Syndrome
Azoospermia, Gait ataxia, Impaired pain sensation, Neurofibroma ORPHA:1446
Basal Cell Nevus Syndrome 1
Hamartomatous stomach polyps, Cardiac rhabdomyoma, Medulloblastoma, Cardiac fibroma, Ovarian carc... OMIM:109400
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Failure to thrive, Mitochondrial hypertrophy, Loss of ambulation, Premature o... OMIM:619518
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Bone marrow hypo... OMIM:619767
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Short Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... OMIM:269880
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Myelodysplasia, Splenomegaly, Thrombocytopenia ORPHA:721
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infections, Decreased lymphocyte proliferation in response to mitogen, Sepsis, Recurren... ORPHA:83471
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ... OMIM:601495
Denys-Drash Syndrome
Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat... OMIM:194080
Bloom Syndrome
Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Abscess, Abnormal proportion of CD8-... ORPHA:125
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Precocious puberty, Polydipsia, Insulin-resistant... ORPHA:769
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colon cancer, Adenomatous co... OMIM:613244
Thymic Carcinoma
Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy ORPHA:99868
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... ORPHA:447877
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Splenomegaly, B-cell lymphoma, Lymphadenopathy, Hepatomegaly, Breast carcinoma ORPHA:86893
48,Xxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Obesity, Type II diabetes me... ORPHA:96263
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Hypopigmentation of hair, Polyphagia ORPHA:177910
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l... ORPHA:1183
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm... OMIM:618433
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Alpha-Heavy Chain Disease
Lymphoma, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Growth delay ORPHA:100025
Hemochromatosis, Type 2B
Hepatic fibrosis, Hypogonadism, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia, Secondary amenorrhea OMIM:613313
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia OMIM:617119
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Obesity, Female pseudohermaphroditism, Cryptorch... ORPHA:91
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Thrombocytosis, Myelodysplasia ORPHA:71493
Angiostrongyliasis
Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating IgA level, ... ORPHA:74
Fanconi Anemia, Complementation Group R
Anemia, Bone marrow hypocellularity, Chiari type I malformation, Chromosomal breakage induced by ... OMIM:617244
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia, Recurrent bacterial infections OMIM:619693
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Short Syndrome
Insulin resistance, Alopecia, Abnormal dental enamel morphology, Inguinal hernia, Lipodystrophy, ... ORPHA:3163
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Azoospermia, Hepatosplenomegaly, Adrenal insufficiency, Reticulocytopenia, Dysplast... ORPHA:300298
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism OMIM:240950
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Lig4 Syndrome
Pancytopenia, Myelodysplasia, Cryptorchidism, Thrombocytopenia, Micropenis, Acute lymphoblastic l... OMIM:606593
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Hypertriglyceridemia 1
Glucose intolerance OMIM:145750
Xeroderma Pigmentosum, Complementation Group A
Spasticity, Squamous cell carcinoma of the skin, Distal sensory impairment, Melanoma, Ataxia, Def... OMIM:278700
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ... OMIM:300845
Lipodystrophy, Congenital Generalized, Type 1
Umbilical hernia, Decreased serum leptin, Hyperinsulinemia, Reduced subcutaneous adipose tissue, ... OMIM:608594
Icf Syndrome
Abnormality of chromosome stability, Lymphopenia, Anemia, Abnormality of neutrophils, Decreased c... ORPHA:2268
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Alopecia, Glycosuria, Insulin-resistant diabetes ... ORPHA:2298
Fanconi Anemia, Complementation Group N
Aplastic anemia, Medulloblastoma, Nephroblastoma, Acute myeloid leukemia, Chromosomal breakage in... OMIM:610832
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Splenomegaly, Hypogonadotropic hypogonadism, Patent du... ORPHA:251066
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Intrauterine growth retardation, Decreased circulating IgA level, Short statur... OMIM:617744
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Recurrent ... ORPHA:436159
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Supernumerary nipple, Cryptorchidism, Micropenis, Leukemia, Myelodysplasia OMIM:619951
Neuroendocrine Neoplasm Of Appendix
Adenocarcinoma of the colon, Adrenocorticotropic hormone excess, Ileal adenocarcinoma, Appendicea... ORPHA:100079
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma OMIM:615593
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent respiratory infections, R... OMIM:614700
Noonan Syndrome 12
Chiari malformation, Decreased response to growth hormone stimulation test, Lymphopenia, Thromboc... OMIM:618624
Classic Mycosis Fungoides
Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, He... ORPHA:2584
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Highly arched eyebrow, Generalized hirsutism, Polyphagia, Paroxysmal bur... ORPHA:228402
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Cerebrooculofacioskeletal Syndrome 1
Insulin resistance, Joint contracture of the hand, Elbow flexion contracture, Knee flexion contra... OMIM:214150
Acquired Generalized Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsuline... ORPHA:79086
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center, Angiosarcoma ORPHA:90186
49,Xxxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C... ORPHA:96264
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam ce... OMIM:607616
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Aggressive behavior, Self-mutilation OMIM:616521
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Cutaneous abscess, Chronic mucocutaneous candidiasis, Recurrent respiratory ... OMIM:618282
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Hypogonadism, Low anterior hairline, Low posterior hairline, At... ORPHA:73272
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Splenomegaly, Disproportionate short-trunk short stature, Reduced sperm motility, Sho... OMIM:602271
Fanconi Anemia, Complementation Group L
Chromosome breakage, Bone marrow hypocellularity, Cerebellar hypoplasia, Aplasia of the uterus, A... OMIM:614083
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosis ORPHA:79456
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Hypopigmentation of hair, Inappropriate laughter, Hyperactivity ORPHA:411515
Milroy Disease
Neoplasm of the skin, Hydrocele testis, Angiosarcoma ORPHA:79452
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:508533
Meningioma
Neoplasm of the skin, Increased circulating prolactin concentration, Neoplasm of the posterior pi... ORPHA:2495
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Cryptorchidism OMIM:613224
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... OMIM:603552
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T c... ORPHA:3261
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Dysmenorrhea... ORPHA:90796
Schaaf-Yang Syndrome
Hypogonadism, Thick eyebrow, Polyphagia, Skin-picking, Camptodactyly, Flexion contracture, Arthro... OMIM:615547
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Neurofibromatosis Type 1
Neoplasm of the skin, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Precocious puberty, Pl... ORPHA:636
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Neoplasm, Splenomegaly, Hepatomegaly, Jaundice, Short stature ORPHA:172
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Huntington Disease
Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcohol use, Aggressive behavior,... ORPHA:399
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Hemochromatosis, Type 3
Lymphopenia, Hypogonadotropic hypogonadism, Amenorrhea, Cirrhosis, Neutropenia, Anemia, Impotence OMIM:604250
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Renal angiomyolipoma, Carcinoid tumor, Elevated circulati... OMIM:610755
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Hypotonia-Cystinuria Syndrome
Decreased response to growth hormone stimulation test, Long eyelashes, Polyphagia, Neonatal hypog... OMIM:606407
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Placental Insufficiency
Insulin resistance ORPHA:439167
Porphyria Due To Ala Dehydratase Deficiency
Abnormal erythrocyte enzyme concentration or activity, Myeloproliferative disorder ORPHA:100924
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Aplastic anemia, Hypogonadism, Cerebellar hypoplasia, Thromb... OMIM:300514
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Hodgkin lymphoma, Decreased proportion of class-switched memory B cells, Coombs-pos... OMIM:619375
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Microcytic anemia, Hepatosplenomegaly, Amen... ORPHA:168569
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias ORPHA:1046
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Recurrent otitis media, Eosinophilia, Recurrent respiratory infe... OMIM:618523
Fanconi Anemia, Complementation Group Q
Bone marrow hypocellularity, Chromosome breakage OMIM:615272
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Splenomegaly, Hypogonadotropic hypo... ORPHA:465508
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Precocious puberty, Self-injurious behavior, Decreased circulating gonadotr... ORPHA:98793
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Neutropenia OMIM:620443
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... OMIM:400044
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Abnormal lymph node morphology, Neoplasm of head and neck, Chronic noninfectious lymphade... ORPHA:97290
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Precocious puberty, Self-injurious behavior, Decreased circulating gonadotr... ORPHA:177904
Lipodystrophy, Congenital Generalized, Type 2
Umbilical hernia, Decreased serum leptin, Hyperinsulinemia, Type II diabetes mellitus, Reduced su... OMIM:269700
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... ORPHA:3464
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Precocious puberty, Self-injurious behavior, Decreased circulating gonadotr... ORPHA:177901
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Precocious puberty, Self-injurious behavior, Decreased circulating gonadotr... ORPHA:98754
Sweet Syndrome
Neoplasm, Leukocytosis, Chronic lymphatic leukemia, Hematological neoplasm, Acute myeloid leukemi... ORPHA:3243
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal test... ORPHA:54251
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Increased adipose tissue ORPHA:199276
Leishmaniasis
Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increased circulating ant... ORPHA:507
Crouzon Syndrome
Dysgerminoma OMIM:123500
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Cryptorchidism, Myeloid leukemia ORPHA:404443
Simple Cryoglobulinemia
Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Reduced circulating complement concentr... ORPHA:91139
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Impaired T cell functio... OMIM:614576
Kallmann Syndrome
Ataxia, Abnormal morphology of female internal genitalia, Decreased testicular size, Breast hypop... ORPHA:478
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Lipodystrophy, Congenital Generalized, Type 4
Insulin resistance, Hyperinsulinemia, Hirsutism, Lipodystrophy, Flexion contracture, Dysphagia OMIM:613327
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Lymphoma, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomeg... OMIM:615122
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur... OMIM:615577
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Tuberous Sclerosis 2
Precocious puberty, Chordoma, Cortical tubers, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphan... OMIM:613254
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618117
Cebalid Syndrome
Highly arched eyebrow, Polyphagia, Thick eyebrow, Congenital diaphragmatic hernia OMIM:618774
Bardet-Biedl Syndrome 9
Hyperglycemia, Polyphagia, Polydipsia OMIM:615986
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Increased circulating cortiso... ORPHA:99889
Solitary Fibrous Tumor
Uterine neoplasm, Genital neoplasm, Vaginal neoplasm, Neoplasm, Prostate cancer, Soft tissue neop... ORPHA:2126
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Apert Syndrome
Ovarian neoplasm ORPHA:87
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Female infertility, Secondary amenorrhea, Elevate... OMIM:619938
46,Xx Sex Reversal 1
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro... OMIM:400045
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen, Cerebellar atrophy ORPHA:89844
Aicardi-Goutieres Syndrome 4
Cerebellar atrophy, Hepatosplenomegaly, Pancytopenia, Intrauterine growth retardation, Splenomega... OMIM:610333
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Thick eyebrow ORPHA:171829
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Increased facial a... OMIM:151660
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Gait ataxia, Impaired distal proprioception, Hypergonadotropic hypogonadism, Primary amenorrhea, ... OMIM:157640
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Reduced proportion... ORPHA:90362
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec... ORPHA:221139
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Basal cell carcinoma, Failure to thrive, Decreased testicular si... OMIM:620040
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hydatidiform Mole
Menometrorrhagia, Anemia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Juvenile Xanthogranuloma
Myeloproliferative disorder ORPHA:158000
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Grfoma
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... ORPHA:97261
Wolfram Syndrome 1
Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Ataxia, Testicular ... OMIM:222300
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis,... OMIM:615631
Waldenström Macroglobulinemia
Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Lymphoma, Splenomegaly, Leukemia, Abn... ORPHA:33226
Omenn Syndrome
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly... OMIM:603554
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Short stature OMIM:614480
Gracile Bone Dysplasia
Ascites, Short stature, Micropenis, Asplenia, Hypoplastic spleen OMIM:602361
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Bone marrow hypocellularity, Sepsis, Hepatosplenomegaly, Leukope... ORPHA:505248
Follicular Lymphoma
Lymphoma, Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphadenopathy ORPHA:545
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia... OMIM:262190
Mosaic Variegated Aneuploidy Syndrome 1
Bifid scrotum, Cryptorchidism, Nephroblastoma, Embryonal rhabdomyosarcoma, Ambiguous genitalia, M... OMIM:257300
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic... ORPHA:848
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Postnatal growth retardation, Leukopenia, Intrauterine growth retard... OMIM:615190
Lassa Fever
Increased circulating IgM level, Sepsis ORPHA:99824
Rothmund-Thomson Syndrome Type 1
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Hypogonadism, Cryptorchidism, Melano... ORPHA:221008
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin resistance, Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Nail dystrophy... ORPHA:90154
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Adenomatous colonic polyposis, Endometrial carcinoma, Prostate cancer, Thyroid... ORPHA:157794
Testicular Germ Cell Tumor
Choriocarcinoma, Azoospermia, Embryonal neoplasm, Teratoma OMIM:273300
Ebola Hemorrhagic Fever
Sepsis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia ORPHA:319218
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Seckel Syndrome 10
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Glucose intoleran... OMIM:617253
Xeroderma Pigmentosum, Complementation Group D
Spasticity, Melanoma, Ataxia, Defective DNA repair after ultraviolet radiation damage, Choreoathe... OMIM:278730
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Immunoglobulin A Deficiency 1
Decreased circulating IgA level OMIM:137100
Congenital Factor Xiii Deficiency
Myeloid leukemia ORPHA:331
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Shwachman-Diamond Syndrome
Normocytic anemia, Aplastic anemia, Pancreatic hypoplasia, Increased mean corpuscular volume, Hyp... ORPHA:811
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Anemia of inadequate production, Decreased fertil... ORPHA:91349
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, El... OMIM:300942
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Fanconi Anemia, Complementation Group U
Chromosome breakage OMIM:617247
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Impaired T cell function, Hypogonadism, Decreased testicular size, Splenomegal... OMIM:201100
Monosomy 22
Gonadal neoplasm, Meningioma, Schwannoma, Hepatosplenomegaly, Aplasia of the thymus, Hypochromic ... ORPHA:96123
Joubert Syndrome 10
Polyphagia, Frequent temper tantrums, Hirsutism OMIM:300804
Polycythemia Vera
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Thrombocytosis, Myelodysplasia ORPHA:729
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Osteosarcoma, Histiocytoma OMIM:112250
Fanconi Anemia
Abnormality of the hypothalamus-pituitary axis, Abnormality of the uterus, Hypogonadism, Azoosper... ORPHA:84
Rothmund-Thomson Syndrome Type 2
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Lymphoma, Cryptorchidism, Melanoma, ... ORPHA:221016
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618935
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Obesity, Increased serum testosterone level... ORPHA:247768
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Hepatosp... ORPHA:231222
Gorlin Syndrome
Meningioma, Neoplasm, Medulloblastoma, Cardiac fibroma, Cryptorchidism, Hypogonadotropic hypogona... ORPHA:377
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Abnormal temper tantrums, Centra... ORPHA:398079
Bone Marrow Failure Syndrome 5
Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia OMIM:618165
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma, Defective DNA repair after u... OMIM:278740
Intellectual Developmental Disorder, Autosomal Dominant 72
Polyphagia, Attention deficit hyperactivity disorder, Overfriendliness OMIM:620439
Lead Poisoning
Somatic sensory dysfunction, Decreased male libido, Imbalanced hemoglobin synthesis, Abnormality ... ORPHA:330015
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia... OMIM:275350
De Sanctis-Cacchione Syndrome
Spasticity, Bilateral cryptorchidism, Babinski sign, Scissor gait, Melanoma, Hypertonia, Ataxia, ... OMIM:278800
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Weight loss, Abnormal circulatin... ORPHA:90794
Tetragametic Chimerism
Abnormal cellular immune system morphology, Clitoral hypertrophy, Bifid scrotum, Abnormality of t... ORPHA:199310
Nijmegen Breakage Syndrome
Acute leukemia, Glioma, Lymphoma, Neoplasm, Autoimmune hemolytic anemia, B-cell lymphoma, Thrombo... ORPHA:647
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Myeloma, Multiple
Paraproteinemia OMIM:254500
Rothmund-Thomson Syndrome
Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Melanoma, Squamous cell carcinoma, A... ORPHA:2909
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Short stature, Decreased circulating IgA level, Small for gestational age, Abnormal T cell morpho... OMIM:215250
Short Stature, Microcephaly, And Endocrine Dysfunction
Broad-based gait, Disproportionate short-limb short stature, Cerebellar vermis atrophy, Lymphopen... OMIM:616541
Sézary Syndrome
Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, He... ORPHA:3162
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphoma, Neoplasm, Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:391
Macrocephaly/Autism Syndrome
Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, Hydrocele testis OMIM:605309
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Laryngeal papilloma, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomeg... OMIM:617388
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia OMIM:620085
Immunodeficiency 92
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619652
Magel2-Related Prader-Willi-Like Syndrome
Precocious puberty, Small pituitary gland, Abnormal temper tantrums, Central hypothyroidism, Hypo... ORPHA:398069
Mandibuloacral Dysplasia With Type B Lipodystrophy
Alopecia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intoleran... OMIM:608612
Pediatric-Onset Graves Disease
Graves disease, Polydipsia, Goiter, Puberty and gonadal disorders, Increased circulating free T3,... ORPHA:525731
Smith-Kingsmore Syndrome
Rhizomelia, Decreased circulating IgA level, Large for gestational age, Cryptorchidism, Thrombocy... OMIM:616638
Cowden Syndrome
Neoplasm of the skin, Follicular thyroid carcinoma, Melanoma, Adenoma sebaceum, Colorectal polypo... ORPHA:201
Monosomy 9Q22.3
Medulloblastoma, Cardiac fibroma, Nephroblastoma, Ovarian fibroma, Odontogenic keratocysts of the... ORPHA:77301
Familial Colorectal Cancer Type X
Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon, Stomach ca... ORPHA:440437
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Lymphopenia, Leukopenia, Increased circulating IgA level, Throm... OMIM:615934
Lipodystrophy, Familial Partial, Type 7
Insulin resistance, Type I diabetes mellitus, Sparse scalp hair, Glucose intolerance, Decreased a... OMIM:606721
Xeroderma Pigmentosum, Complementation Group C
Cutaneous melanoma, Squamous cell carcinoma of the skin, Actinic keratosis, Basal cell carcinoma,... OMIM:278720
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Splenomegaly, Lymphadenopathy OMIM:611762
Histiocytosis-Lymphadenopathy Plus Syndrome
Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation... OMIM:602782
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Fibroma OMIM:619750
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Dyskeratosis Congenita, X-Linked
Decreased testicular size, Pancytopenia, Leukopenia, Cryptorchidism, Phimosis, Oropharyngeal squa... OMIM:305000
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Recurrent viral infections, Increased circulating IgE level, Leukocytosis, Autoimmune hemolytic a... OMIM:620565
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Increased circulating androstenedione conce... OMIM:158330
Netherton Syndrome
Decreased circulating IgG level, Sepsis, Increased circulating IgE level, Recurrent infection of ... OMIM:256500
Mody
Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype... ORPHA:552
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia, Recurr... OMIM:617591
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Intrauteri... ORPHA:2133
Man1B1-Cdg
Sparse eyebrow, Abnormal position of hair whorl, Long eyelashes, Polyphagia, Long eyebrows ORPHA:397941
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Small scrotum, Small for gestational age, Rhizomelia, Failure to... OMIM:607143
Transaldolase Deficiency
Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia,... OMIM:606003
Leukodystrophy, Hypomyelinating, 24
Severe short stature, B lymphocytopenia OMIM:619851
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-po... OMIM:304790
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circu... OMIM:615363
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Failure to thrive, Cerebral atrophy, Increased circulati... OMIM:618213
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Atypical Werner Syndrome
Neoplasm of the skin, Neoplasm of the oral cavity, Meningioma, Hypogonadism, Neoplasm of the thyr... ORPHA:79474
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Postnatal growth retardation, Cerebellar hypoplasia, Hypogonadotropic ... OMIM:616113
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Omenn Syndrome
Lymphoma, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia,... ORPHA:39041
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Growth delay, Abnormal proportion of naive CD4 T cells, Impaired T c... ORPHA:1830
Microphthalmia, Syndromic 9
Severe short stature, Multilobulated spleen, Intrauterine growth retardation, Cryptorchidism, Sho... OMIM:601186
Tick-Borne Encephalitis
Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Thrombocytopenia, Increase... ORPHA:297
Tularemia
Brain abscess, Cutaneous abscess, Leukocytosis, Increased circulating antibody level, Thrombocyto... ORPHA:3392
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Mosaic Variegated Aneuploidy Syndrome
Rhabdomyosarcoma, Vaginal neoplasm, Stomach cancer, Myelodysplasia, Intestinal polyposis, Nephrob... ORPHA:1052
Wiskott-Aldrich Syndrome
Acute leukemia, Abnormal eosinophil morphology, Lymphoma, Microcytic anemia, Lymphopenia, Neoplas... ORPHA:906
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Prader-Willi Syndrome
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... ORPHA:739
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Recurrent infections, Increased circulating IgA level, Neutropenia OMIM:616395
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Recurrent pneumonia, Recurrent bronchiolitis OMIM:616069
Trichothiodystrophy
Spasticity, Increased mean corpuscular hemoglobin concentration, Gait ataxia, Cryptorchidism, Par... ORPHA:33364
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Recurrent infections OMIM:618985
Marbach-Rustad Progeroid Syndrome
Insulin resistance, Reduced subcutaneous adipose tissue OMIM:619322
Proteus Syndrome
Rib exostoses, Long penis, Thymus hyperplasia, Capillary hemangioma, Meningioma, Exostosis of the... ORPHA:744
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Recurrent viral infections, Chronic mucocutane... OMIM:242840
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Neoplasm... ORPHA:100026
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia OMIM:613987
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia, Short st... OMIM:616050
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Squamous cell ca... OMIM:127550
Seckel Syndrome 7
Hypoplasia of the uterus, Central hypothyroidism, Primary amenorrhea OMIM:614851
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Celiac Disease, Susceptibility To, 1
Failure to thrive, Lymphoma, Postnatal growth retardation, Decreased circulating IgA level, Macro... OMIM:212750
Prolidase Deficiency
Recurrent pneumonia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia... OMIM:170100
Trisomy 18P
Attention deficit hyperactivity disorder, Highly arched eyebrow, Polyphagia ORPHA:1715
Angelman Syndrome
Self-injurious behavior, Precocious puberty in females, Fair hair, Delayed menarche, Inappropriat... ORPHA:72
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Steinert Myotonic Dystrophy
Neoplasm of the skin, Male hypogonadism, Cholelithiasis, Decreased response to growth hormone sti... ORPHA:273
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Cerebellar vermis hypoplasia, Cerebellar atrophy, Failure to thr... OMIM:212065
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,... OMIM:603903
Down Syndrome
Polycythemia, Acute megakaryocytic leukemia, Thrombocytopenia, Neutrophilia, Leukemia ORPHA:870
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Rift Valley Fever
Anemia, Increased circulating IgG level, Increased circulating IgM level, Thrombocytopenia ORPHA:319251
Whipple Disease
Insulin resistance, Hypothyroidism, Polydipsia, Anorexia ORPHA:3452
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Lymphangiectasia, Intestinal
Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Xq28 (MECP2) duplication
Decreased circulating IgA level, Failure to thrive DECIPHER:45
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr... OMIM:305400
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:257200
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Lymphopenia, Decreas... OMIM:620005
Stormorken Syndrome
Howell-Jolly bodies, Short stature, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hypospadias, Decreased circulating IgA level, Large for gestational age, Cryptorchidism, Hemangio... ORPHA:457485
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Recurrent upper ... ORPHA:183675
Prolactinoma
Central adrenal insufficiency, Decreased fertility in females, Elevated circulating growth hormon... ORPHA:2965
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen... OMIM:226990
Myotonic Dystrophy 2
Decreased circulating IgG level, Hypogonadism, Elevated circulating follicle stimulating hormone ... OMIM:602668
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati... OMIM:300972
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Uterine neoplasm, Vaginal neoplasm, Diffuse leiomyomatosis, Vulvar neoplasm, Esophageal neoplasm,... ORPHA:1018
Japanese Encephalitis
Neutrophilia, Increased circulating IgM level, Increased circulating antibody level ORPHA:79139
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Decreased testicular size, Leukocytosis, Hypoplasia of the ovary, Abdominal obesity, Micropenis, ... OMIM:619321
Glycogen Storage Disease Ixb
Splenomegaly, Increased hepatic glycogen content, Short stature, Hepatomegaly, Growth delay OMIM:261750
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Intrauterine growth retardation, Postnatal growth retar... OMIM:617827
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Polysplenia, Asplenia, Male infertility ORPHA:244
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Abnormal T cell count, Panhypogammaglobulinemia, Decreased response to growth hormone stimulation... OMIM:307200
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Clitoral hypertrophy, Decreased testicular size, External genital hypoplasia, Ovotestis, Ambiguou... OMIM:610644
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... ORPHA:785
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryptorchidism, Splenomegaly, Erythroid hypoplasia, ... OMIM:612541
Bardet-Biedl Syndrome
Irregular menstruation, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreas... ORPHA:110
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Growth delay, Ascites, Hepatosplenomegaly, Pancytopenia, Hype... ORPHA:77259
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Broad-based gait, Abnormality of the spleen, Azoospermia, Limb ataxia, Hepatosple... ORPHA:2072
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Short stature, Lymphopenia, Premature ovarian insufficiency ORPHA:391307
Primary Biliary Cholangitis
Splenomegaly, Recurrent fungal infections, Increased circulating IgA level, Onychomycosis, Increa... ORPHA:186
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Postnatal growth retardation, Splenomegaly, Dysmenorrhe... ORPHA:79240
17Q11 Microdeletion Syndrome
Precocious puberty, Glioma, Rhabdomyosarcoma, Schwannoma, Pheochromocytoma, Multiple mucosal neur... ORPHA:97685
Rasmussen Subacute Encephalitis
Cerebral cortical hemiatrophy, Global brain atrophy, Subcortical cerebral atrophy, Decreased circ... ORPHA:1929
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Craniopharyngioma
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Central adrenal ins... ORPHA:54595
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... ORPHA:251937
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Male infertility OMIM:618948
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Postnatal gr... ORPHA:1655
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Highly arched eyebrow, Bruxism, Long eyelashes, Thick eyebrow, Inappropr... OMIM:156200
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Portal fibrosis, Growth delay, Cholestasis, Splenomegal... ORPHA:264580
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Uterine neoplasm, Ovarian cyst, Multiple gastric polyps, Iron deficie... OMIM:175200
Luscan-Lumish Syndrome
Polyphagia, High anterior hairline, Aggressive behavior, Hirsutism OMIM:616831
Gitelman Syndrome
Insulin resistance, Type I diabetes mellitus, Chondrocalcinosis, Graves disease, Polydipsia, Gluc... ORPHA:358
Osteopetrosis, Autosomal Dominant 3
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly OMIM:618107
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level, Granuloma ORPHA:562639
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Hepatosplenomegaly, Weight loss, Oligozoospermia, Abnormal testis morphology, Anemi... ORPHA:85450
Genitourinary And/Or Brain Malformation Syndrome
Clitoral hypertrophy, Chiari malformation, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cr... OMIM:618820
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Polysplenia, Immotile sperm, Absent i... OMIM:613807
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality OMIM:607485
Pneumocystosis
Abnormal neutrophil count, Chronic oral candidiasis, Increased circulating antibody level ORPHA:723
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level, Hypoplastic female externa... OMIM:606056
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Intrauterine growt... OMIM:266200
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Hyperinsulinemia, Hypoglycemia ORPHA:230
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Alopecia, Breast aplasia, Abnormal eyebrow morphology, Absent eyelashes, Flex... ORPHA:90153
Brucellosis
Granuloma, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Lung abscess, Thrombocytopenia,... ORPHA:1304
Alg12-Cdg
Failure to thrive, Abnormal circulating IgM level, Intrauterine growth retardation, Complete or n... ORPHA:79324
Nijmegen Breakage Syndrome
Glioma, Lymphoma, Rhabdomyosarcoma, Neurodegeneration, Intrauterine growth retardation, Autoimmun... OMIM:251260
Reni Syndrome
Mental deterioration, Hypogonadism, Lymphopenia, Cryptorchidism, Ataxia OMIM:617575
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Thrombocytopenia 1
Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,... OMIM:313900
Hyperparathyroidism-Jaw Tumor Syndrome
Renal hamartoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Thyroid carcinoma, N... ORPHA:99880
Silver-Russell Syndrome
Insulin resistance, Premature adrenarche, Precocious puberty, Recurrent hypoglycemia ORPHA:813
Felty Syndrome
Bone marrow hypocellularity, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly... ORPHA:47612
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Recurrent infections, Decreas... ORPHA:329918
Dubowitz Syndrome
Lymphoma, Abnormal female external genitalia morphology, Neoplasm, Cryptorchidism, Anemia, Thromb... ORPHA:235
Leopard Syndrome 1
Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty,... OMIM:151100
Glycogen Storage Disease Ixc
Postnatal growth retardation, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepato... OMIM:613027
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... OMIM:616860
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Lymphopenia, Neoplasm, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased... ORPHA:760
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Facial hypertrichosis, Central hypothyroidism, Hy... ORPHA:508
Riddle Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Weight loss, Chromosomal breaka... ORPHA:420741
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Idiopathic Chronic Eosinophilic Pneumonia
Increased circulating IgE level, Hypereosinophilia, Leukocytosis ORPHA:2902
Thalidomide Embryopathy
Insulin resistance ORPHA:3312
Monosomy 18Q
Secondary growth hormone deficiency, Growth delay, Failure to thrive, Bilateral cryptorchidism, S... ORPHA:1600
Cryptococcosis
Lymphoid leukemia, Neoplasm, Prostatitis ORPHA:1546
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... OMIM:619463
Prader-Willi Syndrome
Precocious puberty, Self-injurious behavior, Decreased response to growth hormone stimulation tes... OMIM:176270
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Cholelithiasis, Pancreatic hypoplasia, Failure to thrive, Postnatal gro... ORPHA:83617
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Gait imbalance, Obesity, Abdom... OMIM:209900
Mhc Class Ii Deficiency 1
Cutaneous anergy, Failure to thrive, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia OMIM:209920
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Ascites... ORPHA:2905
Wolman Disease
Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Growth delay ORPHA:75233
Parathyroid Carcinoma
Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid morpholog... ORPHA:143
Ellis Van Creveld Syndrome
Acute leukemia, Abnormal morphology of female internal genitalia, Cryptorchidism, Hypospadias, Ep... ORPHA:289
Ciliary Dyskinesia, Primary, 53
Cerebellar vermis hypoplasia, Abdominal situs inversus, Polysplenia, Dilated fourth ventricle, Ca... OMIM:620642
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia OMIM:618223
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Lesch-Nyhan Syndrome
Testicular atrophy, Megaloblastic anemia, Choreoathetosis OMIM:300322
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cerebellar atrophy, Growth delay, Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Sh... OMIM:618541
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity OMIM:615538
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype... ORPHA:91351
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe... OMIM:146255
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, Splenomegaly, Poly... ORPHA:2969
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Increased circulating IgE level, Reduced ... ORPHA:449432
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphopenia, Autoimmune thrombocytopenia, Neutropenia, T lymphocytopenia OMIM:607944
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cerebral atrophy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic a... OMIM:616084
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Abnormality of T cell physiology, Hypop... ORPHA:2237
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Precocious puberty, Premature adrenarche, Decreased response to growth hormon... ORPHA:96182
Mogs-Cdg
Decreased circulating IgG level, Decreased circulating IgA level, External genital hypoplasia, He... ORPHA:79330
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces... ORPHA:2686
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia, Growth delay OMIM:611490
Dubowitz Syndrome
Aplastic anemia, Lymphoma, Cryptorchidism, Neuroblastoma, Acute lymphoblastic leukemia, Hypospadias OMIM:223370
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Iga Pemphigus
Monoclonal elevation of circulating IgA, Eosinophilia, Increased circulating IgA level, Cutaneous... ORPHA:555905
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Immunodeficiency 82 With Systemic Inflammation
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec... OMIM:619381
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia, Subcutaneous panniculitis-like T-cell lymphoma OMIM:618398
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Polyphagia, Delayed puberty ORPHA:251004
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Short sta... OMIM:601847
Idiopathic Hypereosinophilic Syndrome
Hepatosplenomegaly, Myelodysplasia, Leukocytosis, Splenomegaly, Thrombocytosis, Eosinophilia, Thr... ORPHA:3260
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Metrorrhagia, Lymphangioma, Abnormality of the lymphatic system... ORPHA:464329
Nmda Receptor Encephalitis
Testicular teratoma, Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neuroblastoma, N... ORPHA:217253
Noonan Syndrome 2
Leukemia, Acute lymphoblastic leukemia, Cryptorchidism OMIM:605275
Dominant Beta-Thalassemia
Hepatic fibrosis, Growth delay, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence o... ORPHA:231226
Schimke Immunoosseous Dysplasia
Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Intrauterine gro... OMIM:242900
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Mild postnatal growth retardation, Re... OMIM:224120
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Squamous cell carcinoma of the skin, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocyt... OMIM:620365
Mandibuloacral Dysplasia With Type A Lipodystrophy
Alopecia, Sparse scalp hair, Increased adipose tissue around the neck, Insulin-resistant diabetes... OMIM:248370
Secondary Short Bowel Syndrome
Polyphagia, Central hypothyroidism, Primary hypothyroidism ORPHA:95427
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Oculoskeletodental Syndrome
Hepatomegaly, Splenomegaly, Short stature, Cryptorchidism OMIM:618440
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Abnormal lymphocyte mor... ORPHA:293978
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt... ORPHA:158061
Lymphedema-Distichiasis Syndrome
Fibrosarcoma ORPHA:33001
Hyper-Igd Syndrome
Recurrent infections, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased circulating IgA l... OMIM:260920
Immunodeficiency 110 With Lymphoproliferation
Verrucae, Lymphopenia, Autoimmune hemolytic anemia, Hodgkin lymphoma, Neutropenia, Lymphoprolifer... OMIM:614868
Coccidioidomycosis
Granuloma, Abnormality of the spleen, Abscess, Eosinophilia, Increased circulating IgG level, Inc... ORPHA:228123
Autoinflammatory Disease, Systemic, With Vasculitis
Increased circulating interleukin 6 concentration, Failure to thrive, Parotitis, Decreased circul... OMIM:620376
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Thrombocytopenia, Increased ci... ORPHA:79078
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Dyskeratosis Congenita
Bone marrow hypocellularity, Lymphoma, Abnormal morphology of female internal genitalia, Intraute... ORPHA:1775
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Pearson Syndrome
Bone marrow hypocellularity, Growth delay, Decreased response to growth hormone stimulation test,... ORPHA:699
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy... ORPHA:457077
Beta-Thalassemia Major
Hepatic fibrosis, Growth delay, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence o... ORPHA:231214
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Fine hair, Self-mutilation, Polyphagia, Aggressive behavior, Sparse hair ORPHA:251028
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Monosomy 13Q34
Insulin resistance ORPHA:96168
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... OMIM:154230
Wagro Syndrome
Compulsive behaviors, Polyphagia, Aggressive behavior, Agitation OMIM:612469
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Failure to thrive in infancy, Decreased circulating IgA level, Pancytopenia, Hypersplenism, Splen... OMIM:613385
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage, Poor coordination OMIM:610965
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... OMIM:602347
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Epilepsy-Telangiectasia Syndrome
Short stature, Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Caffey Disease
Increased circulating antibody level ORPHA:1310
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Chiari malformation, Annular pancreas, Decreased circulating total IgM, Patent ductus... OMIM:618162
Schinzel-Giedion Syndrome
Annular pancreas, Ependymoma, Streak ovary, Teratoma, Nephroblastoma, Facial hemangioma, Hepatobl... ORPHA:798
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Rhizomelic arm shortening, Lymphopenia, Leukopenia, Reticulocytopeni... ORPHA:508542
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Lymphopenia, Decreased circulating IgA level, Decreased circula... ORPHA:90363
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Neoplasm of the skin, Abnormal circulating calcium-phosphate regulating horm... ORPHA:534
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Adnp Syndrome
Abnormal temper tantrums, High anterior hairline, Oral-pharyngeal dysphagia, Umbilical hernia, In... ORPHA:404448
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Splenomegaly, Hepatosplenomegaly, Juvenile myelomonocytic leukemia, Cryptorchidism OMIM:613563
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia ORPHA:1116
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Failure to thrive, Impaired T cell function, Anisocytos... OMIM:258900
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:609441
Weaver Syndrome
Joint contracture of the hand, Fine hair, Umbilical hernia, Inguinal hernia, Polyphagia, Camptoda... OMIM:277590
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function, Chordee, Delayed puberty, Short stature, Premature ovarian insufficienc... OMIM:176690
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Hypoplasia of the pons, Lymphopenia, Dysmetria, Cerebellar hypoplasia, Ataxia OMIM:619708
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Leukemia, Lymphoma ORPHA:2526
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Precocious puberty, Global brain atrophy, Cerebellar atrophy, Decreased circulating IgA level, Ob... ORPHA:369837
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytopenia, Neutrophilia, Increased c... ORPHA:99827
Gaucher Disease
Splenic infarction, Pancytopenia, Leukopenia, Splenomegaly, Increased circulating antibody level,... ORPHA:355
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Cryptorchidism OMIM:609942
Alg9-Cdg
Hypoplastic nipples, Bicornuate uterus, Cerebellar atrophy, Hypoplasia of the ovary ORPHA:79328
Chronic Thromboembolic Pulmonary Hypertension
Myeloproliferative disorder, Neoplasm ORPHA:70591
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility OMIM:614874
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Horizontal eyebrow, Sparse anterior scalp hair, Long eyelashes, Inguinal... ORPHA:96121
Combined Immunodeficiency Due To Crac Channel Dysfunction
Neoplasm, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia ORPHA:169090
Rubinstein-Taybi Syndrome 1
Accessory spleen, Capillary hemangioma, Bilateral cryptorchidism, Neoplasm, Cryptorchidism, Prema... OMIM:180849
Common Variable Immunodeficiency
Lymphoma, Lymphopenia, Abnormality of the liver, Splenomegaly, Gastrointestinal stroma tumor, Lym... ORPHA:1572
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Fetal Cytomegalovirus Syndrome
Hepatitis, Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia,... ORPHA:294
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79444
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Multiple myeloma OMIM:230800
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Decreased fertility... ORPHA:91347
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Cartilage-Hair Hypoplasia
Anemia, Abnormality of chromosome stability, Neutropenia, Decreased circulating antibody level ORPHA:175
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Hemangi... ORPHA:83628
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Intrauterine growth retardation, Leukocytosis, Autoimmune hemolytic anemia, Interfac... OMIM:243150
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega... OMIM:612301
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Postnatal growth retardation, Abnormal erythrocyte morphology, Co... ORPHA:288
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Self-injurious behavior, Central hypothyroidism, Polydipsia, Increased circ... ORPHA:293987
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent infections, Sepsis, Increased circulating IgE level, Autoimmune hemolytic anemia, Splen... ORPHA:37042
Legionnaires Disease
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,... ORPHA:549
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Generalized lym... ORPHA:829
Chime Syndrome
Acute leukemia ORPHA:3474
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short stature, Spherocytosis, Splenomegaly ORPHA:66518
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... OMIM:194380
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Increased circulating IgE level, Recurrent respiratory infections, Eosinophilia, Recurrent infect... ORPHA:2314
Immunodeficiency 58
Verrucae, Cutaneous abscess, Failure to thrive, Decreased specific antibody response to vaccinati... OMIM:618131
Down Syndrome
Myeloproliferative disorder, Acute megakaryocytic leukemia OMIM:190685
Mevalonic Aciduria
Recurrent infections, Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Thrombocytopeni... OMIM:610377
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Lymphadenitis, Cholestasis, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphaden... OMIM:615895
Yellow Fever
Leukocytosis, Thrombocytopenia, Neutrophilia, Increased circulating interleukin 6 concentration, ... ORPHA:99829
Netherton Syndrome
Increased circulating IgE level, Recurrent infections, Decreased circulating antibody level, Recu... ORPHA:634
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... OMIM:617394
Turner Syndrome Due To Structural X Chromosome Anomalies
Female infertility, Abnormality of the ovary, Failure to thrive in infancy, Hyperinsulinemia, Obe... ORPHA:99413
Mosaic Monosomy X
Female infertility, Abnormality of the ovary, Failure to thrive in infancy, Hyperinsulinemia, Obe... ORPHA:99228
Monosomy X
Female infertility, Abnormality of the ovary, Failure to thrive in infancy, Hyperinsulinemia, Obe... ORPHA:99226
Turner Syndrome
Female infertility, Abnormality of the ovary, Failure to thrive in infancy, Hyperinsulinemia, Obe... ORPHA:881
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Disproportionate short stature, Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thr... OMIM:301110
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den... OMIM:214500
Poland Syndrome
Acute leukemia, Cryptorchidism, Hypospadias, Neoplasm of the breast, Retinal hamartoma ORPHA:2911
Familial Mediterranean Fever
Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Neutrophilia, Hepatomegaly OMIM:249100
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease... ORPHA:79443
Aspergillosis
Increased circulating IgE level, Eosinophilia, Neutropenia ORPHA:1163
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Immunodeficiency 31C
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Weight loss, Delayed pubert... OMIM:614162
Bannayan-Riley-Ruvalcaba Syndrome
Uterine neoplasm, Lymphoma, Capillary hemangioma, Meningioma, Thyroid carcinoma, Intestinal polyp... ORPHA:109
Hereditary Orotic Aciduria
Anemia, Patent ductus arteriosus, Splenomegaly, Impaired T cell function ORPHA:30
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Tuberous Sclerosis Complex
Pituitary adenoma, Ungual fibroma, Pheochromocytoma, Cardiac rhabdomyoma, Retinal astrocytic hama... ORPHA:805
Khan-Khan-Katsanis Syndrome
Cerebellar vermis hypoplasia, Failure to thrive, Lymphopenia, Intrauterine growth retardation, Pa... OMIM:618460
Glycogen Storage Disease Xii
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,... OMIM:611881
Cartilage-Hair Hypoplasia
Neonatal short-limb short stature, Absent pubertal growth spurt, Lymphoma, Lymphopenia, Macrocyti... OMIM:250250
Gray Platelet Syndrome
Menorrhagia, Splenomegaly, Abnormal number of alpha granules, Thrombocytopenia OMIM:139090
Syndromic Diarrhea
Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Intrauterine growth retardation, Splenom... ORPHA:84064
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Interstitial Cystitis
Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Abnormal vagina morph... ORPHA:37202
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Thrombocytopenia ORPHA:3320
Limb-Mammary Syndrome
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... ORPHA:69085
X-Linked Intellectual Disability, Snyder Type
Abnormality of the Leydig cells, Inability to walk, Cryptorchidism, Testicular atrophy, Unsteady ... ORPHA:3063
Autoimmune Hepatitis
Increased circulating IgG level, Hepatocellular carcinoma, Splenomegaly, Increased circulating an... ORPHA:2137
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hypoplastic nipples, Acute lymphoblastic leukemia, Hydrocele testis OMIM:280000
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus, Agenesis of cerebellar vermis, Cerebellar hypoplasia OMIM:616258
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto... OMIM:615688
Velocardiofacial Syndrome
Hypoparathyroidism, Short stature, Cryptorchidism, Impaired T cell function OMIM:192430
Noonan Syndrome
Hypogonadotropic hypogonadism, Abnormality of the spleen, Juvenile myelomonocytic leukemia, Crypt... ORPHA:648
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemia, Enchondroma... ORPHA:51
Igg4-Related Kidney Disease
Lymphadenitis, Increased circulating IgE level, Reduced circulating complement concentration, Inc... ORPHA:449395
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ... ORPHA:158048
Multiple Myeloma
Splenomegaly, Increased circulating IgA level, Weight loss, Lymphadenopathy, Anemia, Increased ci... ORPHA:29073
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ... OMIM:613812
Proteasome-Associated Autoinflammatory Syndrome 1
Irregular menstruation, Increased circulating interleukin 8 concentration, Growth delay, Failure ... OMIM:256040
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Chiari malformation, Abnormal female external gen... ORPHA:95699
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Polyclonal elevation of IgM, Splenomegaly ORPHA:171
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia OMIM:619183
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Chronic Granulomatous Disease
Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess ORPHA:379
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys... ORPHA:322
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Lymphadenopathy ORPHA:32960
Hutchinson-Gilford Progeria Syndrome
Insulin resistance, Dystrophic toenail, Alopecia totalis, Delayed menarche, Absence of subcutaneo... ORPHA:740
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus, Cerebellar hypoplasia OMIM:617914
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Ring Chromosome 12 Syndrome
Glandular hypospadias, Breast hypoplasia, Cryptorchidism, Hemangioma, Uterine leiomyoma ORPHA:1439
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Growth delay, Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Oropharyng... ORPHA:391487
Helsmoortel-Van Der Aa Syndrome
High anterior hairline, Decreased response to growth hormone stimulation test, Bruxism, Polyphagi... OMIM:615873
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233710
Lymphatic Malformation 6
Intestinal lymphangiectasia, Ascites, Splenomegaly, Short stature, Hydrocele testis OMIM:616843
Oeis Complex
Chiari malformation, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genit... OMIM:258040
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hypersplenism, Splenomegaly, Neoplasm of the liver, Thrombocytopenia, Acute promy... ORPHA:77293
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Menorrhagia, Increased mean pla... OMIM:153670
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Glycogen Storage Disease Ib
Splenomegaly, Pancreatitis, Delayed puberty, Pancreatic fibrosis, Neutropenia, Hepatomegaly, Shor... OMIM:232220
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... OMIM:185000
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Aicardi Syndrome
Precocious puberty, Metastatic angiosarcoma, Teratoma, Hemangioma, Hepatoblastoma, Lipoma, Carcinoma OMIM:304050
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab... OMIM:233690
Rett Syndrome
Increased serum leptin, Bruxism, Stereotypical hand wringing, Motor stereotypy, Agitation ORPHA:778
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Hypogonadism, Cryptorchidism, Amegakaryocytic thrombocytopenia,... OMIM:163950
Primary Sjögren Syndrome
Normocytic anemia, Biliary cirrhosis, Lymphoma, Parotitis, Chronic active hepatitis, Lymphopenia,... ORPHA:289390
Familial Mediterranean Fever
Ascites, Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, Lymphadenopathy ORPHA:342
Cushing Disease
Memory impairment, Abnormal libido, Pituitary corticotropic cell adenoma, Lymphopenia, Leukocytos... ORPHA:96253
Cystic Echinococcosis
Peritoneal abscess, Splenic cyst, Abscess, Increased circulating antibody level, Eosinophilia ORPHA:400
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Hepatosplenomegaly, Facial capillary hemangioma, Leukocytosis, Cere... OMIM:274000
Granulomatous Disease, Chronic, X-Linked
Granuloma, Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lympha... OMIM:306400
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Nestor-Guillermo Progeria Syndrome
Alopecia, Sparse eyebrow, Decreased serum leptin, Nail dystrophy, Sparse eyelashes, Flexion contr... OMIM:614008
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Increased... OMIM:181000
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan... ORPHA:50918
Whim Syndrome
Verrucae, Lymphadenitis, Parotitis, Cutaneous melanoma, Lymphopenia, Abnormal neutrophil morpholo... ORPHA:51636
Immunodeficiency 87 And Autoimmunity
Growth delay, Cervical lymphadenopathy, Lymphopenia, Decreased CD4:CD8 ratio, Intrauterine growth... OMIM:619573
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Chiari malformation, Abnormality of t... OMIM:249000
Meckel Syndrome 14
Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Generalized Pustular Psoriasis
Lymphopenia, Obesity, Overweight, Leukocytosis ORPHA:247353
Beckwith-Wiedemann Syndrome
Chiari malformation, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, A... ORPHA:116
Igg4-Related Ophthalmic Disease
Lymphoma, Increased circulating IgE level, Increased circulating IgG4 level, Sialadenitis, Orchit... ORPHA:449563
Fusariosis
Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Abnormality of the liver, Perit... ORPHA:228119
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic... OMIM:618419
Hypoplasminogenemia
Abnormality of the ovary, Dandy-Walker malformation, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Keppen-Lubinsky Syndrome
Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcutaneous fat, Flexion ... OMIM:614098
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia, Recur... ORPHA:77261
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia, Cognitive impairment, Abnormality of the pancreas ORPHA:935
Igg4-Related Thyroid Disease
Euthyroid goiter, Goiter, Increased circulating IgG4 level, Sialadenitis, Pancreatic fibrosis, No... ORPHA:64744
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Self-injurious behavior, Fixated interests, Umbilical hernia, Hair-pulling, Polyphagia, Attention... OMIM:620330
Norrie Disease
Uterine rupture, Failure to thrive, Cryptorchidism, Cachexia, Neoplasm of the eye, Delayed pubert... ORPHA:649
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Peno... OMIM:618280
Digeorge Syndrome
Cholelithiasis, Parathyroid hypoplasia, Impaired T cell function, Obesity, Splenomegaly, Ovarian ... OMIM:188400
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Asplenia, Male infertility OMIM:244400
22Q11.2 Deletion Syndrome
Cholelithiasis, Failure to thrive, Abnormality of the uterus, Impaired T cell function, Obesity, ... ORPHA:567
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Delayed puberty OMIM:615866
1P36 Deletion Syndrome
Self-injurious behavior, Horizontal eyebrow, Camptodactyly of finger, Hypogonadism, Abnormal eyeb... ORPHA:1606
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Splenomegaly, Hepatomegaly, Short stature, Vaginal atresia, Hamartoma, Patent d... OMIM:617088
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Maturity-onset diabetes of the young, Pancreatic atrophy, Atretic vas defe... OMIM:137920
Linear Skin Defects With Multiple Congenital Anomalies 1
Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias OMIM:309801
Leukocyte Adhesion Deficiency
Abnormality of neutrophil physiology, Polycythemia, Vaginitis, Leukocytosis, Impaired neutrophil ... ORPHA:2968
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple ORPHA:1521
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Encephalitis Lethargica
Recurrent viral infections, Increased circulating antibody level ORPHA:83600
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Sotos Syndrome
Small cell lung carcinoma, Neoplasm, Cryptorchidism, Phimosis, Cholesteatoma, Astrocytoma, Hemang... ORPHA:821
Q Fever
Granuloma, Hepatosplenomegaly, Splenomegaly, Increased circulating antibody level, Thrombocytopen... ORPHA:781
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Alveolar Echinococcosis
Cutaneous abscess, Increased circulating antibody level, Eosinophilia, Abnormal spleen morphology... ORPHA:284
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Periportal fibrosis, Cholestasis, Ascites, Hepatosplenomegaly, Hypersplenism, P... ORPHA:731
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Hemophagocytosis, Reduced circulating complement concentration, ... ORPHA:470
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Olivopontocerebellar hypoplasia, Aplasia of the vagina ORPHA:457284
Chromosome 1P36 Deletion Syndrome, Distal
Horizontal eyebrow, Camptodactyly of finger, Abnormality of the hairline, Congenital hypothyroidi... OMIM:607872
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Al Amyloidosis
Anemia, Howell-Jolly bodies, Increased circulating antibody level ORPHA:85443
Congenital Analbuminemia
Recurrent lower respiratory tract infections, Increased circulating antibody level ORPHA:86816
Wolf-Hirschhorn Syndrome
Precocious puberty, Accessory spleen, Failure to thrive, Cryptorchidism, Aplasia of the uterus, H... OMIM:194190
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, C... ORPHA:99826
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Gait ataxia, Cryptorchidism, Aplasia of the uterus, Hemangioma, Hypospadias... OMIM:135900
Aicardi-Goutieres Syndrome 7
Pancytopenia, Splenomegaly, Increased circulating antibody level, Thrombocytopenia, Anemia, Recur... OMIM:615846
Cystinosis, Nephropathic
Male hypogonadism, Failure to thrive, Failure to thrive in infancy, Splenomegaly, Primary hypothy... OMIM:219800
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Cystic Fibrosis
Decreased body mass index, Absent vas deferens, Failure to thrive, Male infertility ORPHA:586
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level, Recurrent respiratory infections OMIM:615508
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Postinfectious Vasculitis
Recurrent mycobacterial infections, Abnormality of humoral immunity, Recurrent candida infections... ORPHA:48435
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent upper respiratory tract infections, Recurrent pneumonia, Cutaneous abscess, Chronic muc... OMIM:147060
Cystic Fibrosis
Biliary cirrhosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Cirr... OMIM:219700
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Granuloma, Ossifying fibroma, Schwannoma, Lisch nodules, Hemangioma, Optic nerve glioma, Spinal n... ORPHA:363700
Hydrolethalus Syndrome 1
Accessory spleen, Abnormal vagina morphology, Adrenal gland dysgenesis, Bifid uterus, Hypospadias... OMIM:236680
Neu-Laxova Syndrome 1
Cryptorchidism, Cerebellar hypoplasia, Bifid uterus, Patent ductus arteriosus, Dandy-Walker malfo... OMIM:256520
Alström Syndrome
Insulin resistance, Precocious puberty in females, Frontal balding, Elevated circulating thyroid-... ORPHA:64
Reynolds Syndrome
Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Hepatomegaly, Jaundice OMIM:613471
Scleromyxedema
Paraproteinemia ORPHA:167635
Ehlers-Danlos Syndrome, Vascular Type
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Anemia, Cervical insufficiency OMIM:130050
Pmm2-Cdg
Insulin resistance, Elevated circulating thyroid-stimulating hormone concentration, Increased cir... ORPHA:79318
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Cavernous hemangioma of the face, Multiple enchondromatosis, Cavernous hemangioma, Acute myelomon... ORPHA:99646
Townes-Brocks Syndrome 1
Bifid scrotum, Cryptorchidism, Hypothyroidism, Rectoperineal fistula, Bifid uterus, Rectovaginal ... OMIM:107480
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypoplastic... OMIM:276820
Okamoto Syndrome
Bifid uterus, Splenomegaly ORPHA:2729
Loeys-Dietz Syndrome
Patent ductus arteriosus, Uterine rupture ORPHA:60030
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Reduced hematocrit, Increased circulating antibody level, Weight loss, Increas... ORPHA:91500
Pallister-Killian Syndrome
Small scrotum, Supernumerary nipple, Inability to walk, Obesity, Cryptorchidism, Aplasia of the u... OMIM:601803
Cysticercosis
Increased anti-parasite IgE antibody level, Increased circulating antibody level ORPHA:1560
Viss Syndrome
Failure to thrive, Increased circulating IgE level, Exostosis of the external auditory canal, Dec... OMIM:619472
Peters-Plus Syndrome
Cryptorchidism, Decreased body weight, Hypoplastic labia majora, Hypoplasia of the vagina, Biloba... OMIM:261540
Peters Plus Syndrome
Congenital hypothyroidism, Cryptorchidism, Patent ductus arteriosus, Hypoplasia of the uterus, Hy... ORPHA:709
Trichinellosis
Increased circulating IgE level ORPHA:863
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level, Splenomegaly, Polysplenia ORPHA:373
Vascular Ehlers-Danlos Syndrome
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Hypospadias ORPHA:286

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 Atm

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 Atm.

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

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
Atmtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Atmtm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Atmtm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Atmtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Atmtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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