Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
BUB1B, mitotic checkpoint serine/threonine kinase
Synonyms:
BUBR1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Bub1b 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 associated to Bub1b by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Bub1b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Tumor Predisposition Syndrome 4
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma, Polyclonal elevation of IgM... OMIM:153600
Glioma susceptibility 9
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia OMIM:616568
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... OMIM:133180
Acid-Labile Subunit Deficiency
Insulin insensitivity, Mild postnatal growth retardation, Delayed puberty OMIM:615961
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Soft tissue sarcoma ORPHA:2023
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Desmoid Disease, Hereditary
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Recurrent respiratory... OMIM:614470
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Intrauterine growth retardation, Severe short stature, Hypoglycemia OMIM:223500
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Large intestinal polyposis, Colo... ORPHA:247798
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma ORPHA:66661
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias OMIM:247640
Short Stature Due To Partial Ghr Deficiency
Growth delay, Short stature, Hypoglycemia, Delayed puberty ORPHA:314802
Myeloproliferative Disorder, Chronic, With Eosinophilia
Malignant eosinophil proliferation, Eosinophilia, Myeloproliferative disorder OMIM:131440
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer OMIM:619096
Pituitary Hormone Deficiency, Combined, 4
Severe postnatal growth retardation, Pituitary dwarfism, Short stature, Hypoglycemia OMIM:262700
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato... ORPHA:157794
Enchondromatosis, Multiple, Ollier Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:166000
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis OMIM:261650
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Isolated Growth Hormone Deficiency, Type Ia
Growth delay, Severe short stature, Hypoglycemia, Prolonged neonatal jaundice OMIM:262400
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Postnatal growth retardation, Increase... OMIM:232700
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... ORPHA:447877
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Short Stature Due To Ghsr Deficiency
Growth delay, Short stature, Hypoglycemia, Delayed puberty ORPHA:314811
Fanconi Anemia, Complementation Group G
Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia, Anemia OMIM:614082
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... ORPHA:231401
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... OMIM:615158
N Syndrome
Leukemia, Neoplasm OMIM:310465
Multiple Enchondromatosis, Maffucci Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:614569
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia OMIM:609016
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume, Myelodysplasia OMIM:252270
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Cirrhosis, Leukemia, Pulmonary fibros... OMIM:614743
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Acquired Ichthyosis
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma ORPHA:454
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Lymphangioma, Hemangi... ORPHA:296
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis, Bon... OMIM:616871
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat... ORPHA:79140
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Multiple linea... ORPHA:98827
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Eosinophilia, Acute monocytic leukemia, Monocytosis, Increased circul... OMIM:202700
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Maturity-Onset Diabetes Of The Young, Type 10
Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Intrauterine grow... OMIM:613370
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Primary Erythromelalgia
Recurrent respiratory infections, Leukemia ORPHA:90026
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Myelodysplasia OMIM:162830
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proportion of CD8-positive,... OMIM:619824
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae OMIM:614038
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Glioma Susceptibility 3
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... OMIM:613029
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... OMIM:619041
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypoglycemia ORPHA:366
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Bazex Syndrome
Anemia, Neoplasm, Lung adenocarcinoma, Liposarcoma ORPHA:166113
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Milroy Disease
Angiosarcoma, Neoplasm of the skin ORPHA:79452
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi... ORPHA:83469
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... ORPHA:247806
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Meige Disease
Angiosarcoma, Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center ORPHA:90186
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, B-cell lymphoma, Splenomegaly, Recurrent upper respiratory tract... OMIM:616005
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor... ORPHA:86841
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Cataract, Hyperlordosis, Spinal rigidity, Kyphosis, Increased adipose tissue, Proximal amyotrophy... OMIM:617404
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:98855
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... OMIM:175100
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Normocytic anemia, Hepatomegaly, Pancytopenia, Myelodysplasia, Anemia of ... ORPHA:75564
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... OMIM:600175
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Anal a... OMIM:605724
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, B-cell lymphoma, Lymphadenopathy ORPHA:52416
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Usual interstitial pn... OMIM:614742
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... ORPHA:2591
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:601820
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Rhabdoid Tumor
Renal neoplasm, Thrombocytopenia, Lymphadenopathy, Neoplasm of the central nervous system, Neopla... ORPHA:69077
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Lymph... ORPHA:424016
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Atrioventricular block, Decreased cervical spine flexion due to contractur... ORPHA:98863
Liposarcoma
Sarcoma ORPHA:69078
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Impair... OMIM:601399
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Lymphoproliferati... OMIM:300853
Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:98853
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... OMIM:620189
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Growth delay, Abnormal circulating enzyme concentration or activity, Short stature, Fasting hypog... ORPHA:171706
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Asbestos Intoxication
Mediastinal lymphadenopathy, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial mor... ORPHA:2302
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis, Increased v... OMIM:300718
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Wt Limb-Blood Syndrome
Thrombocytopenia, Leukemia, Hypoplastic anemia, Pancytopenia OMIM:194350
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Immunodeficiency 21
Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen... OMIM:614172
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... OMIM:619975
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... ORPHA:3226
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Incr... OMIM:616852
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume OMIM:620044
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Postnatal growth retardation, Growth d... OMIM:613027
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma ORPHA:626
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Verrucae, Squamous cell carcinoma OMIM:618267
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Scoliosis, Type 1 muscle fiber predomin... OMIM:619042
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Essential Thrombocythemia
Splenomegaly, Abnormal platelet morphology, Myelodysplasia, Acute leukemia ORPHA:3318
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Slender build, Hyperlordosis, Quadriceps muscle weakne... OMIM:620389
Thymoma
Aplastic anemia, Neoplasm of head and neck, Pure red cell aplasia, Abnormal lymphocyte proliferat... ORPHA:99867
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Diarrhea 13
Elevated hepatic transaminase, Recurrent hypoglycemia, Hepatic steatosis OMIM:620357
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Gardner Syndrome
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... ORPHA:79665
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersple... ORPHA:98850
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... ORPHA:171
Pyknoachondrogenesis
Stillbirth OMIM:265880
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Increased connective tissu... OMIM:601954
Yellow Nail Syndrome
Renal neoplasm, Recurrent respiratory infections, Biliary tract neoplasm, Bronchiectasis, Neoplas... ORPHA:662
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dystroglycan, Ank... ORPHA:280333
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird... OMIM:620386
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Desmoid... ORPHA:873
Familial Adenomatous Polyposis
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Amed Syndrome, Digenic
Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Thromboc... OMIM:619151
Neuroendocrine Neoplasm Of Appendix
Elevated hepatic transaminase, Hepatomegaly, Functional intestinal obstruction, Chronic noninfect... ORPHA:100079
Myosclerosis, Autosomal Recessive
Skeletal muscle atrophy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Facial palsy, Spinal rigi... OMIM:255600
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Ataxia-Pancytopenia Syndrome
Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Neutropenia, Hypoplastic anemia, A... OMIM:159550
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Splenomeg... ORPHA:100025
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Hyperlordosis, Centrally nucleated skeletal m... OMIM:617760
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Myelod... ORPHA:486
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Leukemia, Meningioma OMIM:602501
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Scapular winging, Lumbar hyperlordosis, Paraspinal muscle hypertrophy, Knee flex... OMIM:602484
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice ORPHA:446
Bethlem Myopathy 2
Scapular winging, Kyphosis, Flexion contracture, Myopathy, Atrophic scars, Scoliosis, Increased v... OMIM:616471
Storage Pool Platelet Disease
Decreased mean platelet volume, Myelodysplasia, Acute leukemia OMIM:185050
Hemochromatosis, Neonatal
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... OMIM:231100
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... OMIM:114500
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis, Pleural effusion, Fibrosarcoma, Ascites ORPHA:314478
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphoma, Recurrent... OMIM:240500
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Distal lower limb amyotrophy, Congenital foot contraction deformities, Hand muscle weakness, Hype... ORPHA:363454
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Skeletal muscle atrophy, Scapular winging, Short neck, Spinal rigidity, Achilles tendo... OMIM:300696
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Acute myeloid leukemia, Chronic myelomonocytic leukemia OMIM:616604
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Decreased mitochondrial number, Hyperlordosis, Limb-girdle muscle we... ORPHA:352470
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Stiff Skin Syndrome
Cataract, Lipodystrophy, Short stature, Elbow flexion contracture, Knee flexion contracture, Camp... OMIM:184900
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... ORPHA:267
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level, Myelodysplasia, Inflammation of the large... ORPHA:48104
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Fatigue, Skeletal muscle atrophy, Increased connective tissue, Muscular dystrophy, Increased vari... OMIM:253601
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Ly... ORPHA:98849
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulatin... OMIM:619750
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma OMIM:619437
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo... OMIM:608600
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Lumbar hyperlordosis, Lipodystrophy, Hypertension, Myopathy, Muscular dy... OMIM:615980
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Lipoatrophy, Perineal hemangioma, Congestive heart failure, Midfronta... ORPHA:141184
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Myopathy ORPHA:157973
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Nemaline Myopathy 2
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... OMIM:256030
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... ORPHA:157798
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinom... ORPHA:369
Mcdonough Syndrome
Short stature, Cachexia, Cryptorchidism, Synophrys, Kyphosis, Aplasia/Hypoplasia of the abdominal... ORPHA:2471
Glycogen Storage Disease Ixb
Hepatomegaly, Short stature, Hypoglycemia, Growth delay, Increased hepatic glycogen content OMIM:261750
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, ... OMIM:619164
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Myasthenic Syndrome, Congenital, 14
Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... OMIM:616228
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal amyotrophy, Distal amyotrophy, Scoliosis,... OMIM:611067
Basal Cell Nevus Syndrome 2
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma OMIM:620343
Exostoses, Multiple, Type Ii
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133700
Moynahan Syndrome
Alopecia, Short stature, Cachexia, Hypogonadism, Sparse hair ORPHA:2574
Werner Syndrome
Skeletal muscle atrophy, Myocardial infarction, Squamous cell carcinoma, Neoplasm, Thyroid carcin... ORPHA:902
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Postnatal growth retardation, Hypoglycemia OMIM:616111
Propionic Acidemia
Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hypoglycemia ORPHA:35
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Hyperlordosis, Spinal rigidity, Elbow flexion contractu... ORPHA:97244
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy ORPHA:86893
Lymphoproliferative Syndrome 3
Lymphoproliferative disorder, Hodgkin lymphoma, Hepatosplenomegaly, Lymphadenopathy, Decreased ci... OMIM:618261
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy, Hypertension, Lipodystrophy, Lipoatrophy OMIM:613877
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... ORPHA:324575
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619048
Cheilitis Glandularis
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma ORPHA:1221
Retinoblastoma
Lymphoma, Cleft palate, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Short stature, Lipodystrophy, Kyphoscoliosis, Cryptorchidism, Flexion co... ORPHA:75496
Turcot Syndrome With Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... ORPHA:99818
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Kyphosis, Achilles ten... OMIM:615290
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Spinal rigidity, Flexion contracture, Scoliosis, Increased variability in muscle fiber diameter, ... OMIM:300717
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha... ORPHA:90033
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta... OMIM:160150
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness OMIM:611225
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Nemaline Myopathy 7
Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee flexion contract... OMIM:610687
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Abnormal stomach morphology, Acute leukemia ORPHA:281090
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90160
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia OMIM:608232
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Glycogen Storage Disease Ixa1
Growth delay, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase OMIM:306000
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy, Vasculitis in the ... ORPHA:90159
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Pneumonia, Increased circulating IgE level, Squamous cell carci... ORPHA:217390
Nasu-Hakola Disease
Functional abnormality of the gastrointestinal tract, Acute leukemia ORPHA:2770
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Loss of subcutaneous adipose tissue from upper limbs, Lipodystrophy, Loss of facial adipose tissu... OMIM:613913
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... OMIM:618129
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... ORPHA:261529
Hyperinsulinemic Hypoglycemia, Familial, 8
Short stature, Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Growth delay OMIM:620211
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Diamond-Blackfan Anemia
Acute myeloid leukemia, Cleft soft palate, Myelodysplasia, Pure red cell aplasia, Erythroid hypop... ORPHA:124
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy, Cardiac shunt OMIM:305800
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy,... OMIM:160565
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Squamous cell carcinoma OMIM:613736
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy, Lipoatrophy ORPHA:154
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, L... ORPHA:280356
Diabetes Mellitus, Transient Neonatal, 1
Intrauterine growth retardation, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy ORPHA:90157
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Quadriceps muscle weakness, Elbow flexion contracture, ... ORPHA:206546
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Analbuminemia
Fatigue, Lipodystrophy, Hypotension OMIM:616000
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Hypoglycemic seizures, Increased hepatic glycogen content, Neonatal hypo... ORPHA:293964
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Essential Fructosuria
Abnormal erythrocyte enzyme level, Abnormal circulating enzyme concentration or activity, Hypergl... ORPHA:2056
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatic fibrosis OMIM:232400
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Ornithine Transcarbamylase Deficiency
Hepatic failure, Hypoglycemia ORPHA:664
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... ORPHA:79456
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Cataract, Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle ... OMIM:609115
Myopathy, Distal, 1
Toe extensor amyotrophy, Lumbar hyperlordosis, Tibialis anterior muscle atrophy, Facial palsy, Ra... OMIM:160500
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Short stature, Ketotic hypoglycemia, Glycosuria, Postprandial hype... ORPHA:2089
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia ORPHA:1216
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S... OMIM:619566
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Renpenning Syndrome
Decreased testicular size, Abnormal hairshaft morphology, Alopecia, Severe short stature, Catarac... ORPHA:3242
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Muscl... OMIM:253700
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Lymphoma, Recurrent tonsillitis, Bronchiectasis, Lymphaden... ORPHA:397596
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto... ORPHA:86839
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Limb-girdle muscl... OMIM:609308
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, Int... OMIM:607088
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Hand muscle atrophy, Lumbar hyperlordosis, Short stature, Spondylolisthesis at L5... OMIM:600561
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Short stature, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic keto... OMIM:262190
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Neoplasm ORPHA:172
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem... OMIM:308240
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Spinal rigidity, Hyperlordosis, Limb muscle weakness, Type 1 muscle fiber predomina... OMIM:161800
Ruijs-Aalfs Syndrome
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Cataract, Lipodystrophy, Short stature, Posteri... OMIM:616200
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Lipoatrophy, Congestive heart failur... ORPHA:2348
Congenital Myopathy 16
Scapular winging, Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, Scoliosis, EMG: myo... OMIM:618524
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... ORPHA:514
Immunodeficiency 54
Chromosome breakage, Short stature, Postnatal growth retardation, Intrauterine growth retardation... OMIM:609981
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Myelodysplasia ORPHA:721
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Weakness o... OMIM:618484
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... OMIM:606612
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Lumbar hyperlordosis, Shoulder flexion cont... OMIM:617114
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Lipoatrophy, Kyphosis, Cryptorchidism, Vertebral segmentation defect, Scoli... ORPHA:2617
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Postnatal growth retardation, Short stature, Neonatal hypoglycemia, Hypoglycemia ORPHA:231140
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Hypergonadotropic hypogonadism, Short stature, Hyperlordosis, Cryptorchidism, Kyphosis,... ORPHA:3085
Isolated Glycerol Kinase Deficiency
Short stature, Hyperlordosis, Cryptorchidism, Myopathy, Scoliosis ORPHA:408
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Decreased liver function OMIM:246900
Myopathic Ehlers-Danlos Syndrome
Exercise intolerance, Congenital muscular torticollis, Decreased muscle mass, Multiple joint cont... ORPHA:536516
Ataxia-Telangiectasia
Decreased circulating IgG level, Decreased circulating IgG2 level, Lymphoma, Bronchiectasis, Hodg... OMIM:208900
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Reduced subcutaneous adipose tissue, Increased susceptibility to spontaneous sister chromatid exc... OMIM:618097
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Congenital Macroglossia
Macroglossia, Neurofibroma, Abnormal hepatic glycogen storage ORPHA:2430
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Scapular winging, Thoracic scoliosis, Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tend... ORPHA:62
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... OMIM:615122
Combined Oxidative Phosphorylation Deficiency 36
Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a... OMIM:617950
Aicardi Syndrome
Hiatus hernia, Recurrent pneumonia, Teratoma, Carcinoma, Cleft palate, Lipoma, Hepatoblastoma, Me... OMIM:304050
Fanconi Anemia, Complementation Group O
Chromosome breakage, Short stature, External genital hypoplasia, Cryptorchidism, Small thenar emi... OMIM:613390
Inclusion Body Myopathy And Brain White Matter Abnormalities
Low back pain, Scapular winging, Proximal muscle weakness in upper limbs, Centrally nucleated ske... OMIM:619733
Mucolipidosis Type Iii
Fatigue, Inguinal hernia, Corneal opacity, Hyperlordosis, Abnormal form of the vertebral bodies ORPHA:577
Familial Thrombocytosis
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis ORPHA:71493
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase... OMIM:261680
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Malabsorption, Leukocytosis, Lymphoma, Lymphadenopathy, Acute leukemia ORPHA:99812
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Telangiectasia of the skin, Kyphosis... OMIM:615381
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Jaundice, Hypoglycemia, Acute hepatic failure OMIM:616483
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... ORPHA:300751
Parastremmatic Dwarfism
Severe short stature, Short neck, Kyphosis, Flexion contracture, Scoliosis OMIM:168400
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Lipodystrophy, Short stature, Generalized lipodystrophy OMIM:612526
Becker Nevus Syndrome
Hamartoma, Lipoatrophy, Kyphosis, Scoliosis, Spina bifida occulta, Shoulder girdle muscle atrophy ORPHA:64755
Flynn-Aird Syndrome
Skeletal muscle atrophy, Alopecia, Cataract, Cachexia, Kyphosis, Scoliosis ORPHA:2047
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe... OMIM:167320
Isochromosomy Yp
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size ORPHA:98797
Adrenocortical Carcinoma
Adrenocortical carcinoma, Lung adenocarcinoma ORPHA:1501
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Decreased liver function ORPHA:67048
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Intrauterine growth retardation, Short stature, Generalized lipodystrophy ORPHA:50811
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of neutrophils, Malabso... ORPHA:33226
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Cataract, Centrally nucleated skeletal... OMIM:301075
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, H... ORPHA:276580
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi... OMIM:613818
Childhood-Onset Nemaline Myopathy
Exercise intolerance, Scapular winging, Spinal rigidity, Flexion contracture, Increased muscle li... ORPHA:171439
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Short neck, Spinal rigidity, Kyphosis, Abnormal muscle fiber morphology, Flexion con... ORPHA:75840
Nijmegen Breakage Syndrome-Like Disorder
Growth delay, Short stature, Chromosomal breakage induced by ionizing radiation OMIM:613078
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia ORPHA:2576
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Intrauterine growth re... OMIM:618958
Terminal Osseous Dysplasia
Fibroma, Cleft palate OMIM:300244
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism, S... OMIM:300624
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Acquired Partial Lipodystrophy
Myopathy, Arthralgia, Lipoatrophy ORPHA:79087
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Spermatogenic Failure 17
Male infertility OMIM:617214
Myofibrillar Myopathy 11
Fatigue, Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hy... OMIM:619178
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia, Short stature ORPHA:329249
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short stature, Abnormal form of... ORPHA:40
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Facial palsy, Cachexia, Hypogonadism, Limb muscle weakness, Iris hypopig... ORPHA:97229
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Exercise intolerance, Tachycardia, Atrial fibrillation, Lipodystrophy, Spi... OMIM:613327
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Cleft palate, Melanoma, Retino... ORPHA:790
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Multiple pulmonary cysts, Cutaneous leiomyosarcoma, Spontaneous pneumothorax, Tri... OMIM:135150
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hypoglycemic seizures, Growth delay, Decreased 3-hyd... OMIM:231530
Endocardial Fibroelastosis
Cryptorchidism, Hypoglycemia ORPHA:2022
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa... ORPHA:545
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Intrauterine growth retardation, Hypoglycemia ORPHA:231147
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Increased connective tissue ORPHA:238329
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... OMIM:610755
Spermatogenic Failure, X-Linked, 6
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Bloom Syndrome
Bronchitis, Neoplasm, Gastroesophageal reflux, Neoplasm of the breast, Stomach cancer, Decreased ... ORPHA:125
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... ORPHA:266
Caspase 8 Deficiency
Decreased circulating IgG level, Recurrent sinopulmonary infections, Complete or near-complete ab... OMIM:607271
Alg3-Cdg
Cataract, Lipodystrophy, Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita ORPHA:79321
Fanconi Anemia, Complementation Group S
Chromosome breakage, Short stature, Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovar... OMIM:617883
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Scoliosis, Typ... OMIM:605637
Bloom Syndrome
Elevated hemoglobin A1c, Lymphoma, Recurrent upper respiratory tract infections, Bronchiectasis, ... OMIM:210900
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased connective tissue, Keratitis, Scarring alopecia of scalp, Motheaten muscle fibers, Musc... OMIM:226670
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Failure to thrive, Short stature, Chromosomal breakage induced by crosslinking agents, Decreased ... OMIM:619060
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein throm... ORPHA:729
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... ORPHA:280365
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Lipase Deficiency, Combined
Lipodystrophy OMIM:246650
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
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 1
Female infertility OMIM:615774
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ... OMIM:613204
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313