Not currently registered for phenotyping at IMPC

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

Gene Summary

BUB1B, mitotic checkpoint serine/threonine kinase

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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
Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma... OMIM:153600
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Tumor Predisposition Syndrome
Uveal melanoma, Cutaneous melanoma, Meningioma, Renal cell carcinoma, Lung adenocarcinoma OMIM:614327
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer OMIM:135290
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormality of the peritoneum ORPHA:2023
Erythroleukemia, Familial, Susceptibility To
Refractory anemia with ringed sideroblasts, Erythroid hyperplasia, Hepatomegaly, Acute myeloid le... OMIM:133180
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Glioma Susceptibility 9
Leukemia, Glioma, Astrocytoma OMIM:616568
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Mast Cell Sarcoma
Hepatomegaly, Sarcoma, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Lymphoproliferative disorder, Monocytosis, Hemolytic anemia, Autoimmune thrombocyt... OMIM:614470
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Fibroma, Uterine leiomyoma, Colorectal polyposis, ... ORPHA:220460
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Malignant eosinophil proliferation, Eosinophilia OMIM:131440
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias OMIM:247640
Mismatch Repair Cancer Syndrome 1
Non-Hodgkin lymphoma, Basal cell carcinoma, Adenocarcinoma of the colon, Medulloblastoma, Neurobl... OMIM:276300
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Pulmonary infiltrates, Myeloproliferative disorder, Eosinophilia OMIM:607685
Hereditary Mixed Polyposis Syndrome
Rectal polyposis, Neoplasm of the gastrointestinal tract, Prostate cancer, Adenocarcinoma of the ... ORPHA:157794
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, Colon cancer, T-cell acute lymphoblastic leukemias OMIM:619096
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Polymerase Proofreading-Related Adenomatous Polyposis
Adenocarcinoma of the colon, Neoplasm of the rectum, Endometrial carcinoma, Colorectal polyposis,... ORPHA:447877
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Colorectal polyposis, Large intestinal polyposis, ... ORPHA:247798
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Paraneoplastic Pemphigus
Thymoma, Sarcoma, B-cell lymphoma ORPHA:63455
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, A... ORPHA:231401
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
N Syndrome
Neoplasm, Leukemia OMIM:310465
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Multiple myeloma, Neoplasm of the outer ear, Chronic noninfectious lymphade... ORPHA:79140
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Myeloid leukemia, Cirrhosis, Pulmonary fibrosis, Pancytopenia, Aplastic anemia, Leukemia, Bone ma... OMIM:614743
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Acute myelomonocytic leukemia, Abnormal m... ORPHA:2585
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Myelodysplasia, Monocytosis, Lymphoma, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bon... OMIM:616871
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Acquired Ichthyosis
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma ORPHA:454
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Myelodysplasia, Increased mean corpuscular volume OMIM:252270
Unclassified Myelodysplastic Syndrome
Myelodysplasia, Leukocytosis, Acute myeloid leukemia, Multiple lineage myelodysplasia, Bone marro... ORPHA:98827
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Acute monocytic leukemia, Thrombocytosis, Increased circ... OMIM:202700
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Keratosis, Familial Actinic
Neoplasm, Uterine neoplasm, Carcinoma OMIM:148390
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Primary Erythromelalgia
Leukemia, Recurrent respiratory infections ORPHA:90026
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Carcinoma OMIM:603641
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Ollier Disease
Hemangioma, Chondrosarcoma, Multiple enchondromatosis, Neoplasm, Sarcoma, Anemia, Visceral angiom... ORPHA:296
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Non-Hodgkin lymphoma, Neoplasm of the rectum, Endometrial carcinoma, Mening... ORPHA:454840
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Bazex Syndrome
Neoplasm, Liposarcoma, Lung adenocarcinoma, Anemia ORPHA:166113
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Myelodysplasia, Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Incr... OMIM:619041
Immunodeficiency 36
Bronchiectasis, Decreased circulating antibody level, Chronic lymphatic leukemia, Lymphopenia, B-... OMIM:616005
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
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Milroy Disease
Angiosarcoma, Neoplasm of the skin ORPHA:79452
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Abnormality of the peritoneum, Lymphade... ORPHA:83469
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy, B-cell lymphoma ORPHA:52416
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Meige Disease
Angiosarcoma, Pleural effusion, Lymph node hypoplasia, Absence of lymph node germinal center, Lar... ORPHA:90186
Lymphedema, Primary, With Myelodysplasia
Pancytopenia, Myelodysplasia, Leukemia OMIM:614038
Progressive Osseous Heteroplasia
Sarcoma ORPHA:2762
Immunodeficiency 21
Myeloid leukemia, Myelodysplasia, Monocytopenia, Abnormal natural killer cell morphology, Lymphop... OMIM:614172
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Hereditary nonpolyposis colorectal carcinoma OMIM:613244
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Apolipoprotein A-I Deficiency
Lymphadenopathy, Abnormality of the liver, Anemia, Splenomegaly ORPHA:425
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Myelodysplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marro... ORPHA:86841
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Jaundice, Anemia of inadequate production, ... OMIM:237800
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Maffucci Syndrome
Neoplasm of the parathyroid gland, Chondrosarcoma, Ovarian neoplasm, Dysphagia, Hemangiomatosis, ... ORPHA:163634
Acquired Idiopathic Sideroblastic Anemia
Myelodysplasia, Hypochromic anemia, Thrombocytosis, Leukocytosis, Refractory anemia with ringed s... ORPHA:75564
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elbow flexion contractur... ORPHA:98855
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Anal atresia, Bone marrow hypocellularity, T-cell acute lymphoblastic leu... OMIM:605724
Familial Adenomatous Polyposis 1
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... OMIM:175100
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Neoplasm of the liver, Thrombocytopenia, ... ORPHA:69077
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Proximal l... OMIM:600175
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Scoliosis, Hyperlordosis, Increased connective tissue, Rimmed vacuoles, Skeletal muscle atrophy, ... OMIM:617760
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myeloid leukemia, Cirrhosis, Myelodysplasia, Reticular pattern on pulmonary HRCT, Pulmonary fibro... OMIM:614742
Infantile Myofibromatosis
Gingival fibromatosis, Benign neoplasm of the central nervous system, Fibroma, Neoplasm of the sk... ORPHA:2591
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Myelodysplasia, Acute monocytic leukemia, Neuroblastoma, Abnormal ... OMIM:601399
Sarcoma ORPHA:69078
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Short neck, Elbow flexio... ORPHA:98863
Myosclerosis, Autosomal Recessive
Restricted neck movement due to contractures, Increased connective tissue, Achilles tendon contra... OMIM:255600
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Lymphoproliferative disorder, Decreased CD69 upregulation upon TCR activati... OMIM:300853
Adenocarcinoma Of The Anal Canal
Intestinal bleeding, Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolaps... ORPHA:424016
Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elbow flexion contractur... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Elbow flexion contractur... ORPHA:98853
Asbestos Intoxication
Subpleural honeycombing, Ground-glass opacification, Abnormal sputum, Interlobular septal thicken... ORPHA:2302
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Leukemia, Malabsorption, Cutaneous mastocytosis ORPHA:79456
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Increased connective tissue, Muscular dystrophy, Proximal upper limb amyotrophy, Proximal muscle ... OMIM:601954
Gastrointestinal Stromal Tumor
Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Gastrointestinal hemorrhag... ORPHA:44890
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Wt Limb-Blood Syndrome
Thrombocytopenia, Hypoplastic anemia, Leukemia, Pancytopenia OMIM:194350
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Recurrent respiratory infections, Hepatomegaly, Thromb... ORPHA:3226
Spinal Muscular Atrophy, Infantile, James Type
Scoliosis, Lower limb muscle weakness, Type 1 muscle fiber predominance, Lumbar hyperlordosis, Di... OMIM:619042
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Myeloproliferative disorder, Splenomegaly OMIM:254450
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Jaundice, Cirrhosis, Acute hepatic failure, Abnormal biliary tract m... ORPHA:171
Myopathy, Scapulohumeroperoneal
Scoliosis, Hyperlordosis, Scapular winging, Wrist drop, Increased connective tissue, Centrally nu... OMIM:616852
Large Congenital Melanocytic Nevus
Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma, Neoplasm of the skin ORPHA:626
Yellow Nail Syndrome
Biliary tract neoplasm, Renal neoplasm, Pleuritis, Bronchiectasis, Hypoplasia of lymphatic vessel... ORPHA:662
Essential Thrombocythemia
Myelodysplasia, Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Scoliosis, Hyperlordosis, Cataract, Spinal rigidity, Increased adipose tissue OMIM:617404
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Limb-girdle muscular dystrophy, Lumbar hyperlordosis, Calf muscle pseudohypertrophy, Reduced musc... ORPHA:280333
Colorectal Cancer
Renal cell carcinoma, Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma, Tran... OMIM:114500
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Spinal rigidity, Short neck, Increased v... OMIM:300718
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Familial Adenomatous Polyposis
Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the adrenal gland, Fibroma, Neop... ORPHA:733
Stillbirth OMIM:265880
Nemaline Myopathy 2
Scoliosis, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Skeletal muscle atro... OMIM:256030
Anemia, Congenital Dyserythropoietic, Type Iv
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anemia of inadequate production, Anemia, Sp... OMIM:613673
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Scoliosis, Congenital foot contractures, Arthrogryposis multiplex congenita, Scapular winging, Lu... OMIM:602484
Neuroendocrine Neoplasm Of Appendix
Intestinal carcinoid, Adenocarcinoma of the colon, Functional intestinal obstruction, Ovarian neo... ORPHA:100079
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Increased connective tissue, Muscular dystrophy, Fatigue, Muscle fi... OMIM:253601
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Depressed nasal bridge, Leukemia, Nephroblastoma, Meningioma OMIM:602501
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Hyperlordosis, Pectoralis amyotrophy, Scapular winging, Congenital finger flexion contractures, M... ORPHA:267
Storage Pool Platelet Disease
Myelodysplasia, Decreased mean platelet volume, Acute leukemia OMIM:185050
Desmoid Tumor
Gastrointestinal hemorrhage, Fibroma, Desmoid tumors, Intestinal polyposis, Malabsorption, Intest... ORPHA:873
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Lipodystrophy, Familial Partial, Type 7
Developmental cataract, Lack of facial subcutaneous fat, Orthostatic hypotension, Lipodystrophy, ... OMIM:606721
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Amed Syndrome, Digenic
Myelodysplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocel... OMIM:619151
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Gastrointestinal hemorrhage, Leukocytosis, Neutropenia,... ORPHA:98850
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hyperlordosis, Hand muscle weakness, Congenital foot contraction deformities, Flexion contracture... ORPHA:363454
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Alpha-Heavy Chain Disease
Lymphoma, Hepatomegaly, Dysgammaglobulinemia, Ascites, Anemia, Splenomegaly, Abnormality of the s... ORPHA:100025
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent bronchitis, Partial absence of specific antibody response to uncon... OMIM:240500
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... ORPHA:444463
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Prostate cancer, Ovarian neoplasm, Germ cell neopla... ORPHA:157798
Chronic leukemia, Gastrointestinal hemorrhage, Hepatomegaly, Sarcoma, Splenomegaly, Mastocytosis,... ORPHA:98292
Autosomal Dominant Severe Congenital Neutropenia
Hemangioma, Myelodysplasia, Monocytosis, Lymphopenia, Neutropenia, Pneumonia, Recurrent sinopulmo... ORPHA:486
Ovarian Fibrothecoma
Peritonitis, Pleural effusion, Fibrosarcoma, Ascites, Diffuse leiomyomatosis, Ovarian fibroma ORPHA:314478
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Cholelithiasis, Jaundice, Anemia of inadequate production, Splenomegaly OMIM:224100
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Nodular Lymphocyte Predominant Hodgkin Lymphoma
B-cell lymphoma, Hepatomegaly, Lymphoma, Breast carcinoma, Splenomegaly, Lymphadenopathy ORPHA:86893
Stiff Skin Syndrome
Camptodactyly, Lipodystrophy, Cataract, Knee flexion contracture, Short stature, Elbow flexion co... OMIM:184900
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Hyperlordosis, Multiple joint contractures, Myopathy, Limb-girdle muscle weakness,... ORPHA:352470
Systemic Mastocytosis With Associated Hematologic Neoplasm
Chronic myelomonocytic leukemia, Abnormal mast cell morphology, Neutrophilia, Lymphadenopathy, Eo... ORPHA:98849
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Muscular Dystrophy, Congenital, Merosin-Positive
Scoliosis, Congenital muscular dystrophy, Flexion contracture, Shoulder girdle muscle weakness, F... OMIM:609456
Myasthenic Syndrome, Congenital, 14
Scoliosis, Hyperlordosis, Scapular winging, Flexion contracture, Ragged-red muscle fibers, Limb-g... OMIM:616228
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis OMIM:615234
Pyoderma Gangrenosum
Inflammation of the large intestine, Increased circulating antibody level, Myelodysplasia, Myeloi... ORPHA:48104
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Hypertension, Increased facial adipose t... OMIM:608600
Neutropenia, Anemia, Splenomegaly OMIM:602079
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Arthrogryposis multiplex congenita, Cataract, Small for gestational age, Failure to thrive, Kypho... OMIM:212540
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myeloid leukemia OMIM:616604
Congenital Muscular Dystrophy Due To Lmna Mutation
Hyperlordosis, Flexion contracture, Spinal rigidity, Cachexia, Skeletal muscle atrophy, Myopathy ORPHA:157973
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Lymphopenia, B-cell lymphoma, Colitis, Recurrent bronchio... OMIM:619164
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612690
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Hyperlordosis, Scapular winging, Proximal amyotrophy, Back pain, Myopathy, Myalgia, Muscle fiber ... OMIM:618129
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Myopathy, Distal, With Rimmed Vacuoles
EMG: myopathic abnormalities, Scapular winging, Internally nucleated skeletal muscle fibers, Z-ba... OMIM:617158
Rigid Spine Syndrome
Scoliosis, Hyperlordosis, Hamstring contractures, Spinal rigidity, Skeletal muscle atrophy, Hip c... ORPHA:97244
Moynahan Syndrome
Sparse hair, Cachexia, Alopecia, Short stature, Hypogonadism ORPHA:2574
Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly, Anemi... ORPHA:846
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scoliosis, Hyperlordosis, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Distal amyotrophy,... OMIM:611067
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Ruijs-Aalfs Syndrome
Thoracic kyphoscoliosis, Hepatocellular carcinoma, Lipodystrophy, Posterior subcapsular cataract,... OMIM:616200
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Prolonged neonatal j... OMIM:224120
Retinoblastoma, Lymphoma, Cleft palate, Osteosarcoma, Pinealoma, Leukemia, Ewing sarcoma OMIM:180200
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Bloom Syndrome
Bronchiectasis, Recurrent upper respiratory tract infections, Lymphoma, Decreased circulating IgA... OMIM:210900
Exostoses, Multiple, Type Ii
Scapular exostoses, Rib exostoses, Chondrosarcoma, Pelvic bone exostoses OMIM:133701
Exostoses, Multiple, Type I
Scapular exostoses, Rib exostoses, Chondrosarcoma, Pelvic bone exostoses OMIM:133700
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Anisopoik... OMIM:616689
Cheilitis Glandularis
Neoplasm, Abnormal salivary gland morphology, Squamous cell carcinoma ORPHA:1221
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Pancytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:618963
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Autoimmune Hemolytic Anemia, Warm Type
Lymphoproliferative disorder, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, ... ORPHA:90033
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Congenital hemolytic ... ORPHA:766
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Lumbar hyperlordosis, Facial palsy, Short stature, Hypogonadotropic hypogonadism, Myopathy OMIM:253320
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Defective B cell differentiation, Non-Hodgkin lymphoma, T lymphocytopenia, Recurrent bronchitis, ... OMIM:208900
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Z-band streaming, ... OMIM:618655
Leukemia, Chronic Myeloid
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia OMIM:608232
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat ORPHA:90160
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Adenocarcinoma of the colon, Pure red cell aplasia, ... ORPHA:124
Turcot Syndrome With Polyposis
Melena, Adenomatous colonic polyposis, Neoplasm of the central nervous system, Pilomatrixoma, Cer... ORPHA:99818
Syndromic Recessive X-Linked Ichthyosis
Abnormal stomach morphology, Testicular seminoma, Acute leukemia ORPHA:281090
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Hepatomegaly, Splenomegaly, Ab... OMIM:618495
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Vasculitis in the skin, Lipoatrophy, Absence of subcutaneous... ORPHA:90159
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Progressive loss of facial adipose tissue, Lipodystrophy, Loss of subcutaneous adipose tissue fro... OMIM:613913
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, T lymphocytopenia, Increased circulating IgE level, Recurrent sinu... ORPHA:217390
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy OMIM:618852
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Cataract OMIM:300719
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Cholecystitis, Polycythemia, Cholelithiasis, Normocytic anemia, ... OMIM:222800
Central Core Disease Of Muscle
Scoliosis, Centrally nucleated skeletal muscle fibers, Central core regions in muscle fibers, Typ... OMIM:117000
Tyrosinemia Type 1
Hepatomegaly, Hepatocellular carcinoma, Acute hepatic failure, Splenomegaly ORPHA:882
Hodgkin Lymphoma
Lymphoma, Neoplasm, Hepatomegaly, Splenomegaly, Hemoptysis, Lymphadenopathy ORPHA:98293
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy, Lipoatrophy, Hypertension OMIM:613877
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal lower limb amyotrophy, Limb-girdle muscular dystrophy, Proximal upper limb amyotrophy, P... OMIM:609115
Dyskeratosis Congenita, Autosomal Recessive 3
Pancytopenia, Bone marrow hypocellularity, Squamous cell carcinoma OMIM:613988
Nasu-Hakola Disease
Functional abnormality of the gastrointestinal tract, Acute leukemia ORPHA:2770
Myopathy, Myofibrillar, 7
Scoliosis, Type 2 muscle fiber predominance, Thoracic kyphosis, Flexion contracture, Increased Z-... OMIM:617114
Membranoproliferative Glomerulonephritis, X-Linked
Cardiac shunt, Lipodystrophy OMIM:305800
Gray Platelet Syndrome
Thrombocytopenia, Myelodysplasia, Splenomegaly ORPHA:721
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy, Lipoatrophy ORPHA:154
Lymphoproliferative Syndrome 2
Hemophagocytosis, Lymphoproliferative disorder, Recurrent pneumonia, Decreased circulating antibo... OMIM:615122
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atrophic scars, Atypical scarring of skin, Lipodystrophy, Flexion contracture, Growth delay, Pulm... ORPHA:75496
Congenital Macroglossia
Macroglossia, Abnormal hepatic glycogen storage, Neurofibromas ORPHA:2430
Rapidly Involuting Congenital Hemangioma
Hemangioma, Midfrontal capillary hemangioma, Perineal hemangioma, Lipoatrophy, Telangiectasia of ... ORPHA:141184
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Squamous cell carcinoma OMIM:613736
Hereditary Myopathy With Early Respiratory Failure
EMG: myopathic abnormalities, Internally nucleated skeletal muscle fibers, Muscle fiber hypertrop... ORPHA:178464
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hypertension, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous adip... ORPHA:280356
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat ORPHA:90157
Myopathy, Tubular Aggregate, 1
Proximal amyotrophy, Flexion contracture, Weakness of the intrinsic hand muscles, Type 2 muscle f... OMIM:160565
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hyperlordosis, Scapular winging, Spinal muscular atrophy, Achilles tendon contracture, Knee flexi... OMIM:615290
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Neoplasm, Jaundice, Hepatomegaly, Splenomegaly, Malabsorption ORPHA:172
Hypotension, Fatigue, Lipodystrophy OMIM:616000
Mcdonough Syndrome
Scoliosis, Cryptorchidism, Kyphosis, Synophrys, Cachexia, Short stature, Aplasia/Hypoplasia of th... ORPHA:2471
Parastremmatic Dwarfism
Scoliosis, Kyphosis, Flexion contracture, Severe short stature, Short neck OMIM:168400
Werner Syndrome
Ovarian neoplasm, Neoplasm, Breast carcinoma, Skeletal muscle atrophy, Melanoma, Telangiectasia o... ORPHA:902
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Hematochezia, Rectal prolapse, Duodenal adenocarcinoma,... OMIM:174900
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Limb-girdle mu... OMIM:613818
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia ORPHA:1216
Ring Chromosome Y Syndrome
Cryptorchidism, Male hypogonadism, Female infertility, Male infertility, Abnormal spermatogenesis... ORPHA:261529
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial instability, Spondylolysis, Os odontoideum, Lumbar hyperlordosis, Hand muscle atroph... OMIM:600561
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Macroglossia, Scoliosis, Hyperlordo... OMIM:606612
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Hyperlordosis, Interosseus muscle atrophy, Spinal muscular atrophy, Distal lower limb muscle weak... OMIM:607088
Myopathy, Congenital, With Tremor
Scoliosis, EMG: myopathic abnormalities, Scapular winging, Flexion contracture, Lumbar hyperlordo... OMIM:618524
Immunodeficiency 48
Hepatomegaly, Panhypogammaglobulinemia, Pneumonia, Splenomegaly OMIM:269840
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Hyperlordosis, Scapular winging, Muscular dystrophy, Achilles tendon contracture, Calf muscle pse... ORPHA:62
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Scoliosis, Cataract, Flexion contracture, Failure to thrive OMIM:617393
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Nemaline Myopathy 3
Slender build, EMG: myopathic abnormalities, Scoliosis, Arthrogryposis multiplex congenita, Hyper... OMIM:161800
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Spherocytosis OMIM:612653
Myopathy, Centronuclear, 1
Hyperlordosis, EMG: myopathic abnormalities, Skeletal muscle hypertrophy, Flexion contracture, Ce... OMIM:160150
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Anemia, Cervical lymph... ORPHA:514
Refractory Anemia With Excess Blasts
Single lineage myelodysplasia, Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of ... ORPHA:86839
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Lig4 Syndrome
Leukocytosis, Lymphoma, Hepatomegaly, Pancytopenia, Wide nasal bridge, Malabsorption, Acute leuke... ORPHA:99812
Immunodeficiency 54
Postnatal growth retardation, Failure to thrive, Short stature, Intrauterine growth retardation, ... OMIM:609981
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis, Lower limb muscle weakness, Skeletal muscle atrophy OMIM:611225
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Jaundice, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Terminal Osseous Dysplasia
Fibroma, Cleft palate OMIM:300244
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Cirrhosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Anemia, Sple... OMIM:616860
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Skeletal muscle hypertrophy, Lipodystrophy, Lipoatrophy, Congestive heart failure, Ab... ORPHA:2348
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Aicardi Syndrome
Hiatus hernia, Hemangioma, Recurrent pneumonia, Carcinoma, Metastatic angiosarcoma, Teratoma, Cle... OMIM:304050
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Flexion contracture, Lumbar hyperlordosis, Spinal rigidity, Limb-girdle muscl... OMIM:609308
Intellectual Disability-Cataracts-Kyphosis Syndrome
Facial hemangioma, Thoracic kyphosis, Iris coloboma, Cataract, Failure to thrive, Knee flexion co... ORPHA:171860
Myasthenic Syndrome, Congenital, 25, Presynaptic
Scoliosis, Kyphosis, Flexion contracture, Generalized amyotrophy, Spinal rigidity, Myopathy OMIM:618323
Childhood-Onset Nemaline Myopathy
Slender build, EMG: myopathic abnormalities, Scoliosis, Arthrogryposis multiplex congenita, Scapu... ORPHA:171439
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Hyperlordosis, Decreased muscle mass, Congenital finger flexion contractures, Kyphosis... ORPHA:536516
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Amelogenesis imperfecta, Hyperlordosis, Coronal cleft vertebrae, Abnormal vertebral mo... OMIM:618363
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Apocrine hidrocystoma, Poroma, Squamous cell carcinoma OMIM:224750
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, EMG: myopathic abnormalities, Abnormal muscle fiber morphology, Short neck, Increased ... ORPHA:75840
Mucolipidosis Type Iii
Hyperlordosis, Abnormal form of the vertebral bodies, Corneal opacity, Inguinal hernia, Fatigue ORPHA:577
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Stomatocytosis, Reticulocytosis, Hepatomegaly, Jaundice, Splenomegaly OMIM:185000
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Scoliosis, Congenital muscular dystrophy, Skeletal muscle atrophy, Myopathy, Fatty replacement of... OMIM:613204
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Cryptorchidism, Hypergonadotropic hypogonadism, Kyphosis, Keloids, Polycystic ovar... ORPHA:3085
Growth Factors, Combined Defect Of
Lipodystrophy, Reduced subcutaneous adipose tissue, Flexion contracture OMIM:233805
Follicular Lymphoma
Pleural effusion, Abnormality of the peritoneum, Lymphoma, Splenomegaly, Mediastinal lymphadenopa... ORPHA:545
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Lipodystrophy, Atrial fib... ORPHA:300751
Muir-Torre Syndrome
Laryngeal carcinoma, Renal neoplasm, Salivary gland neoplasm, Endometrial carcinoma, Neoplasm of ... ORPHA:587
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Lipodystrophy, Generalized lipodystrophy, Short stature OMIM:612526
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly, Ly... OMIM:603552
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Flexion contracture, Increased variability in muscle fiber diameter OMIM:300717
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma OMIM:618373
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Shagreen patch, Kyphosis, Lipoatrophy, Severe short stature, Vertebral segmentation de... ORPHA:2617
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... ORPHA:171442
Renpenning Syndrome
Growth delay, Decreased testicular size, Iris coloboma, Severe short stature, Cataract, Abnormal ... ORPHA:3242
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Intrauterine growth retardation, Generalized lipodystrophy, Short stature ORPHA:50811
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
EMG: myopathic abnormalities, Facial hypotonia, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level, Leukemia, Abnormality of the thymus OMIM:208910
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation, Growth delay, Short stature OMIM:613078
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Posterior capsular cataract, Muscle fiber inclusio... ORPHA:399058
Morbid Obesity And Spermatogenic Failure
Obesity, Infertility, Azoospermia, Oligospermia OMIM:615703
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Pulmonary infiltrates, Abnormality of neutrophils, Pleural effusion,... ORPHA:33226
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Carcinoma OMIM:615225
Mulibrey Nanism
Intrauterine growth retardation, Cachexia, Short stature ORPHA:2576
Acquired Partial Lipodystrophy
Myopathy, Arthralgia, Lipoatrophy ORPHA:79087
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis, Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy OMIM:613723
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Cholelithiasis, Jaundice, Splenomegaly, Spherocytosis OMIM:182900
Birt-Hogg-Dube Syndrome
Fibrofolliculoma, Renal neoplasm, Spontaneous pneumothorax, Trichodiscoma, Cutaneous leiomyoma, R... OMIM:135150
Familial Thrombocytosis
Myelodysplasia, Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly ORPHA:71493
Schnitzler Syndrome
Increased circulating IgM level, Leukocytosis, Lymphoma, Hepatomegaly, Anemia, Splenomegaly, Lymp... ORPHA:37748
Retinoblastoma, Glioma, Lymphoma, Leiomyosarcoma, Osteosarcoma, Rhabdomyosarcoma, Cleft palate, L... ORPHA:790
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Disproportionate short stature, Abnormal form of the vertebral bodies, ... ORPHA:40
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Anemia, Splenomegaly, Lymphadenopathy ORPHA:100024
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Nonspherocytic hemolytic anemia, Reticulocytosis, Cholecystitis, Cholelithiasis, Normocytic anemi... OMIM:235700
Becker Nevus Syndrome
Scoliosis, Shoulder girdle muscle atrophy, Hamartoma, Kyphosis, Lipoatrophy, Spina bifida occulta ORPHA:64755
Solute carrier family 4 (anion exchanger), member 1
Hemolytic anemia, Elliptocytosis, Stomatocytosis, Reticulocytosis, Jaundice, Splenomegaly, Acanth... OMIM:109270
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Fanconi Anemia, Complementation Group S
Low anterior hairline, Sparse hair, Ovarian neoplasm, Long eyelashes, Failure to thrive, Short st... OMIM:617883
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Carcinoma, Renal angiomyolipoma, Carcinoid tumor, Parathyroid adenoma... OMIM:610755
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Lipodystrophy OMIM:615980
Riboflavin Transporter Deficiency
Iris hypopigmentation, Facial palsy, Cachexia, Skeletal muscle atrophy, Hypogonadism, Limb muscle... ORPHA:97229
Tuberous Sclerosis 2
Chordoma, Cardiac rhabdomyoma, Gingival fibromatosis, Subungual fibromas, Pulmonary lymphangiomyo... OMIM:613254
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scoliosis, EMG: myopathic abnormalities, Macroglossia, Scapular winging, Increased endomysial con... ORPHA:353
Flynn-Aird Syndrome
Scoliosis, Kyphosis, Cataract, Cachexia, Alopecia, Skeletal muscle atrophy ORPHA:2047
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis, Foot dorsiflexor weakness OMIM:617087
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Muscular dystrophy, Centrally nucle... OMIM:254110
Severe X-Linked Mitochondrial Encephalomyopathy
Increased connective tissue, Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Overweight, Centrally nucleated ske... OMIM:619178
Lymphoproliferative Syndrome 1
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Pleural e... OMIM:613011
Minicore Myopathy With External Ophthalmoplegia
Scoliosis, Type 1 and type 2 muscle fiber minicore regions, Increased connective tissue, Muscular... OMIM:255320
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Scoliosis, Abdominal pain, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Tricep... ORPHA:86812
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Recurrent upper respiratory tract infections, Abnormal natural killer cell phys... OMIM:613101
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Proximal muscle weakness in lower limbs, Muscle fiber necrosis, Calf muscle hypertrophy, Fatty re... OMIM:618848
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly OMIM:614480
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Down Syndrome
Macroglossia, Acute megakaryocytic leukemia, Myeloproliferative disorder, Aganglionic megacolon, ... OMIM:190685
Myopathy, Centronuclear, 2
Scoliosis, EMG: myopathic abnormalities, Hyperlordosis, Scapular winging, Kyphosis, Flexion contr... OMIM:255200
Multiminicore Myopathy
Scoliosis, Abnormal muscle fiber morphology, Arthrogryposis multiplex congenita, Congenital muscu... ORPHA:598
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Decreased body weight, Failure to thrive, Chromosomal breakage induced by crosslinking agents, Sh... OMIM:619060
Lipase Deficiency, Combined
Lipodystrophy OMIM:246650
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Minimal subcutaneous fat, Increased intraabdominal fat, Supraventricular ... ORPHA:280365
Adrenocortical Carcinoma
Lung adenocarcinoma, Adrenocortical carcinoma ORPHA:1501
Xfe Progeroid Syndrome
Enamel hypoplasia, Scoliosis, Absence of subcutaneous fat, Severe short stature, Cachexia OMIM:610965
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
EMG: myopathic abnormalities, Scapular winging, Increased connective tissue, Muscular dystrophy, ... OMIM:608423
Polycythemia Vera
Myelodysplasia, Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Portal hypertension, Acu... ORPHA:729
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... OMIM:619375
Scoliosis, Lipoatrophy, Short stature, Telangiectasia of the skin ORPHA:2500
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Kyphosis, Lipodystrophy, Flexion contracture, Telangiectasia OMIM:615381
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Scapular winging, Pelvic girdle muscle atrophy, Back pain, Pelvic... OMIM:167320
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Internally nucleated skeletal muscle fibers, Kyphosis, Proximal muscle weakness in lower limbs, P... OMIM:618138
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Azoospermia, Bilateral breast hypoplasia, Hyperplasia of the Leydig cells, Oli... ORPHA:52901
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Scoliosis, Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnorma... OMIM:618654
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Scoliosis, Hyperlordosis, Muscular dystrophy, Flexion contracture, Right ventricular hypertrophy,... OMIM:253700
Bloom Syndrome
Neoplasm of the breast, Pneumonia, Neoplasm, Malignant genitourinary tract tumor, Myelodysplasia,... ORPHA:125
Immunodeficiency With Hyper-Igm, Type 4
Myelodysplasia, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Recurre... OMIM:608184
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Ovarian neoplasm, Squamous cell carcinoma ORPHA:50944
Isolated Glycerol Kinase Deficiency
Scoliosis, Cryptorchidism, Hyperlordosis, Short stature, Myopathy ORPHA:408
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy OMIM:615238
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hyperlordosis, Skeletal muscle hypertrophy, Muscular dystrophy, Flexion contracture OMIM:611588
Hemochromatosis, Type 2B
Hepatomegaly, Cirrhosis, Anemia, Splenomegaly OMIM:613313
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Short Syndrome
Rieger anomaly, Lipodystrophy, Lipoatrophy, Cataract, Inguinal hernia, Megalocornea, Birth length... OMIM:269880
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents, Postnatal g... OMIM:609054
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Hirsutism, Cataract, Small for gestational age, Short stature ORPHA:85288
Familial Male-Limited Precocious Puberty
Long penis, Abnormal hair morphology, Oligospermia, Macroorchidism, Male infertility, Precocious ... ORPHA:3000
Isochromosomy Yp
Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia ORPHA:98797
Congenital Myasthenic Syndromes With Glycosylation Defect
Scoliosis, Scapular winging, Muscle fiber tubular inclusions, Ragged-red muscle fibers, Flexion c... ORPHA:353327
Genetic Hyperferritinemia Without Iron Overload
Fatigue, Arthralgia, Cataract ORPHA:254704
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Lymphoma, Hepatomegaly, Splenomegaly, Cutaneous T-cell lymphoma, ... ORPHA:2584
Persistent Mullerian Duct Syndrome, Types I And Ii
Inguinal hernia, Male infertility, Bilateral cryptorchidism, Abnormality of male internal genitalia OMIM:261550
Ullrich Congenital Muscular Dystrophy 1
Slender build, Reduced muscle collagen VI, Scoliosis, Congenital muscular dystrophy, Kyphosis, Fl... OMIM:254090
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Oculopharyngodistal Myopathy 2
EMG: myopathic abnormalities, Increased endomysial connective tissue, Rimmed vacuoles, Fatty repl... OMIM:618940
Lipe-Related Familial Partial Lipodystrophy
Increased intraabdominal fat, Marked muscular hypertrophy, Lipodystrophy, Increased adipose tissu... ORPHA:435660
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hyperlordosis, Muscular dystrophy, Limb-girdle muscular dystrophy, Cataract, Myopathy, Myalgia, M... ORPHA:369840
Rigid Spine Muscular Dystrophy 1
Scoliosis, Type 1 and type 2 muscle fiber minicore regions, Muscular dystrophy, Flexion contractu... OMIM:602771
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Decreased muscle mass, Azoospermia, Primary amenorrhea, Decreased testicular size, H... OMIM:229070
Congenital Multicore Myopathy With External Ophthalmoplegia
Tibialis atrophy, Type 1 muscle fiber atrophy, Scoliosis, Internally nucleated skeletal muscle fi... ORPHA:98905
Primary Lipodystrophy
Angina pectoris, Skeletal muscle hypertrophy, Lipodystrophy, Lipoatrophy, Hypertension, Congestiv... ORPHA:90970
Lipodystrophy, Congenital Generalized, Type 4
Scoliosis, Hyperlordosis, Skeletal muscle hypertrophy, Muscular dystrophy, Lipodystrophy, Atrial ... OMIM:613327
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Arrhythmia, Short stature, Kyphosis OMIM:618453
Cowden Syndrome 1
Subcutaneous lipoma, Carcinoma, Decreased circulating antibody level, Lymphopenia, Meningioma, Th... OMIM:158350
Fragile X Syndrome
Macroorchidism, postpubertal, Scoliosis, Folate-dependent fragile site at Xq28, Congenital macroo... OMIM:300624
Developmental And Epileptic Encephalopathy 73
Scoliosis, Flexion contracture, Cataract, Inguinal hernia, Failure to thrive OMIM:618379
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Osteosarcoma, Histiocytoma OMIM:112250
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Myopathy, Congenital, With Fiber-Type Disproportion
Scoliosis, Centrally nucleated skeletal muscle fibers, Lumbar hyperlordosis, Type 1 fibers relati... OMIM:255310
Myasthenic Syndrome, Congenital, 5
Scoliosis, Hyperlordosis, Decreased muscle mass, Type 2 muscle fiber atrophy, Myopathy, Limb musc... OMIM:603034
Kahrizi Syndrome
Thoracic kyphosis, Iris coloboma, Cataract, Knee flexion contracture, Elbow flexion contracture, ... OMIM:612713
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Cataract, Inguinal hernia, Cigarette-paper scars, Decreased muscle mass OMIM:608763
Cushing Disease
Abdominal pain, Lipodystrophy, Hypertension, Telangiectasia of the skin, Cataract, Myopathy, Fati... ORPHA:96253
Cancer-Associated Retinopathy
Prostate cancer, Cutaneous melanoma, Neoplasm of the breast, Uterine neoplasm, Malignant genitour... ORPHA:71505
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Squamous cell carcinoma, Melanoma ORPHA:90342
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Neuroblastoma, Neoplasm, Breast carcinoma, Neoplasm of the lung, Small cell lun... ORPHA:1183
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Reduced isohemagglutinin level, Pharyngalgia, Decreased circula... OMIM:614699
Gastrointestinal stroma tumor, Pulmonary fibrosis, Lymphoma, Neoplasm, Abnormal pulmonary interst... ORPHA:221
Short Syndrome
Abnormal dental enamel morphology, Lipodystrophy, Posterior embryotoxon, Corneal opacity, Severe ... ORPHA:3163
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Ectodermal Dysplasia, Trichoodontoonychial Type
Lipoatrophy ORPHA:1818
Nijmegen Breakage Syndrome
Recurrent pneumonia, Hemolytic anemia, Anal stenosis, Autoimmune hemolytic anemia, Glioma, Recurr... ORPHA:647
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia, Short stature ORPHA:1144
Immunodeficiency 47
Cirrhosis, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jaundice, Leukopenia, Splenomegaly OMIM:300972
Pleuropulmonary Blastoma
Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:601200
Paroxysmal Nocturnal Hemoglobinuria
Myelodysplasia, Hemolytic anemia, Dysphagia, Pancytopenia, Hypoplastic anemia, Acute myeloid leuk... ORPHA:447
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis, Skeletal muscle hypertrophy, Fatigue, Muscular dystrophy OMIM:613157
Common Variable Immunodeficiency
Recurrent bronchitis, Gastrointestinal stroma tumor, Hemolytic anemia, Elevated hepatic transamin... ORPHA:1572
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Nestor-Guillermo Progeria Syndrome
Scoliosis, Sinus tachycardia, Flexion contracture, Lipoatrophy, Hypertension, Short stature, Pulm... OMIM:614008
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Classic Hodgkin Lymphoma
Lymphoma, Neoplasm, Hepatomegaly, Splenomegaly, Hemoptysis, Bone marrow hypocellularity, Lymphade... ORPHA:391
Lipodystrophy, Familial Partial, Type 3
Lipodystrophy, Hypertension, Loss of gluteal subcutaneous adipose tissue, Reduced subcutaneous ad... OMIM:604367
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Wide nasal bridge, Depressed nasal bridge OMIM:613224
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma, Squamous cell carcinoma ORPHA:542592
Porphyria Due To Ala Dehydratase Deficiency
Abnormal erythrocyte enzyme level, Myeloproliferative disorder ORPHA:100924
Distal Myopathy, Tateyama Type
EMG: myopathic abnormalities, Abnormal muscle fiber protein expression, Intrinsic hand muscle atr... ORPHA:488650
Tibial Muscular Dystrophy
EMG: myopathic abnormalities, Peroneal muscle atrophy, Increased muscle lipid content, Centrally ... ORPHA:609
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Extramedullary hematopoiesis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegal... OMIM:612840
Oslam Syndrome
Neoplasm, Osteosarcoma, Anemia OMIM:165660
Bethlem Myopathy
Reduced muscle collagen VI, EMG: myopathic abnormalities, Scoliosis, Cigarette-paper scars, Muscu... ORPHA:610
Lipodystrophy, Familial Partial, Type 2
Increased intraabdominal fat, Skeletal muscle hypertrophy, Adipose tissue loss, Increased adipose... OMIM:151660
Sézary Syndrome
Abnormal pleura morphology, Abnormal lymphocyte morphology, Abnormal immunoglobulin level, Lympho... ORPHA:3162
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Congenital muscular dystrophy, Kyphosis, Cataract, Decreased testicular... ORPHA:1875
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Scoliosis, EMG: myopathic abnormalities, Overweight, Centrally nucleated skeletal muscle fibers, ... ORPHA:486815
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Intrauterine growth retardation, Generalized lipodystrophy, Congenital generalized lipodystrophy,... OMIM:608154
Anauxetic Dysplasia 2
Hyperlordosis, Macroglossia, Sparse hair, Ovoid vertebral bodies, Flexion contracture, Cervical s... OMIM:617396
Diencephalic Syndrome
Cachexia, Decreased body weight, Long penis ORPHA:1672
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Pparg-Related Familial Partial Lipodystrophy
Marked muscular hypertrophy, Skeletal muscle hypertrophy, Lipoatrophy, Hypertension, Congestive h... ORPHA:79083
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hypertension ORPHA:79084
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Thoracic kyphosis, Irregular vertebral endplates, Lumbar hyperlordosis,... OMIM:609223
Oncogenic Osteomalacia