Gene Summary

lysine (K)-specific methyltransferase 2A
All1,  Mll,  HTRX1,  trithorax Drosophila,  Cxxc7,  ALL-1,  Mll1

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased heart rate Kmt2aem1(IMPC)Marc HET Early adult 2.95×10-06
decreased bone mineral density Kmt2aem1(IMPC)Marc HET Early adult 2.13×10-05
increased lean body mass Kmt2aem1(IMPC)Marc HET Early adult 2.93×10-05
preweaning lethality, complete penetrance Kmt2aem1(IMPC)Marc HOM   Early adult 0.00
abnormal retina morphology Kmt2aem1(IMPC)Marc HET   Early adult 2.47×10-06

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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 Kmt2a 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 Kmt2a by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Kmt2a by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Refr... OMIM:133180
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossificatio... OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral clefting, Short neck, Vertebral segmentation defect, Hemivertebrae, Rib fusion OMIM:608681
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Lymphoma, T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia OMIM:247640
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion OMIM:613702
Wildervanck Syndrome
Pseudopapilledema, Fused cervical vertebrae OMIM:314600
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Back pain, Vertebral fusion, Abnormality of the odontoid process, Ky... OMIM:277300
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Sprengel anomaly, Fused cervical vertebrae OMIM:214300
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Cervical C2/C3 vertebral fusion,... ORPHA:2345
Congenital Amegakaryocytic Thrombocytopenia
Short neck, Abnormal form of the vertebral bodies, Anemia, Scoliosis, Short stature, Abnormal hem... ORPHA:3319
Spondylocostal Dysostosis 5
Missing ribs, Supernumerary ribs, Short neck, Posterior rib fusion, Scoliosis, Low back pain, Ver... OMIM:122600
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae, Fused cervical vertebrae ORPHA:1436
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cervical vertebral bodies with decreased anteroposterior diameter, Widening of cervical spinal ca... OMIM:606842
Spondylocostal Dysostosis 4, Autosomal Recessive
Missing ribs, Block vertebrae, Short thorax, Abnormal rib morphology, Vertebral fusion, Abnormali... OMIM:613686
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Myelodysplasia, Acute leukemia, Thr... ORPHA:231401
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Wildervanck Syndrome
Facial palsy, Pseudopapilledema, Short neck, Fused cervical vertebrae ORPHA:3456
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Prominent metopic ridge, Fused cervical vertebrae, Scoliosis OMIM:309620
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation OMIM:131440
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Lymphoma, Autoimmune thrombocytopenia, Splenomegaly, Hepatom... OMIM:614470
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia OMIM:252270
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Flexion contracture, Antecubital pterygium, Fused thoracic vertebrae, Scoliosis, Fuse... OMIM:618469
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Lymphoma, Monoclonal immunoglobulin M proteinemia, Leukemia, Impaired lymphocyte transformation w... OMIM:153600
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Chondrocalcinosis Due To Apatite Crystal Deposition
Costochondral pain, Costal cartilage calcification, Intervertebral disk calcification, Osteoarthr... OMIM:118610
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Abnormal form of the vertebral bodies, Joint stiffness, Tarsal synostosis, Posteri... ORPHA:2064
Asymmetric Short Stature Syndrome
Fused cervical vertebrae, Lumbar scoliosis OMIM:108450
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Scoliosis, Intrauterine growth retardation ORPHA:2802
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatic failure, Colon cancer, Anemia, Neoplasm of the lung, Hodgkin lymphoma, Thro... ORPHA:158057
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Poland Syndrome
Short ribs, Unilateral brachydactyly, Sprengel anomaly, Unilateral oligodactyly, Hemivertebrae, R... OMIM:173800
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Glioma Susceptibility 9
Astrocytoma, Glioma, Leukemia OMIM:616568
His Bundle Tachycardia
Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Glioblastoma multiforme, Colon cancer OMIM:619096
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Ovoid vertebral bodies, Metaphyseal spurs, Rounded epiphyses, Bell-sha... OMIM:611702
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Acute myeloid leukemia, Colon cancer OMIM:246470
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Missing ribs, Short neck, Short thorax, Posterior rib fusion, Hyperlo... ORPHA:1797
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
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
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Bone marrow hypocellularity, Lymphoma, Acute myeloid leukemia, Myelodysp... OMIM:616871
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Short neck, Hyperlordosis, Abnormal rib morphology, Abnormal clavicle morphology, Pectu... ORPHA:2522
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Primary Basilar Invagination
Short neck, Abnormal vertebral morphology, Abnormality of the cervical spine ORPHA:2285
Cervical Rib
Cervical ribs OMIM:117900
Fanconi Anemia, Complementation Group G
Leukemia, Neutropenia, Anemia, Myelodysplasia, Thrombocytopenia OMIM:614082
Brachyolmia, Maroteaux Type
Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Pectus excavatum, Scoliosis ORPHA:93302
Unclassified Myelodysplastic Syndrome
Leukocytosis, Bone marrow hypocellularity, Acute myeloid leukemia, Myelodysplasia, Multiple linea... ORPHA:98827
Li-Fraumeni Syndrome
Prostate neoplasm, Adrenocortical carcinoma, Colon cancer, Breast carcinoma, Osteosarcoma, Lung a... OMIM:151623
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:606664
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytosis, Acute myeloid leukemi... ORPHA:86841
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Li-Fraumeni Syndrome
Central primitive neuroectodermal tumor, Neoplasm of the gastrointestinal tract, Adrenocortical c... ORPHA:524
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Radioulnar synostosis, Scoliosis, Pectus carinatum, Delayed skeletal mat... ORPHA:3268
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... OMIM:610476
Missing ribs, Absent or minimally ossified vertebral bodies, Short neck, Short thorax, Enlarged t... ORPHA:66637
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion OMIM:221950
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Pancytopenia, Leukemia, Bone marrow hypocellularity, Myeloid leukemia, Aplastic anemia, Cirrhosis OMIM:614743
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Jaundice OMIM:206400
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Enlargement of the costochondral junction, Metaphyseal irregularity, Ovoid vertebr... OMIM:609052
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Sclerotic vertebral body, Abnormal r... ORPHA:2790
Abnormality of the vertebral column, Abnormal vertebral morphology ORPHA:351
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Restricted large joint movement, Abnormal vertebral morphology, Abnormality of the ankles, Platys... ORPHA:163665
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Abnormal rib morphology, Scoliosis, Sprengel anomaly... OMIM:118100
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Sensorineural hearing impairment, Neutropenia, Myelodysplasia, Acu... OMIM:610738
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Becker Nevus Syndrome
Supernumerary ribs, Kyphosis, Pectus excavatum, Scoliosis, Abnormality of tibia morphology, Pectu... ORPHA:64755
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Abnormality of ne... ORPHA:2585
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Optic atrophy, Fused cervical vertebrae ORPHA:530983
Sprengel Deformity
Scoliosis, Sprengel anomaly, Spina bifida occulta, Cervical segmentation defect, Hemivertebrae, R... OMIM:184400
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Sudden cardiac death, Ventricular tachycardia ORPHA:3286
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Short thorax, Platyspondyly, Increased vertebral height ORPHA:93304
Stillbirth OMIM:265880
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Amegakaryocytic thrombocytopenia, Clinodactyly of the 5th finger, Radioulnar s... ORPHA:71289
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... OMIM:610193
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Joint stiffness, Hip osteoarthritis, Knee osteoarthritis, Beaking of vertebral b... OMIM:604864
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myelodysplasia, Aplastic anemia, Monocytope... OMIM:614172
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Abnormal form of the vert... ORPHA:1802
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Metaphyseal widening, Short ribs, Irregular chondrocostal junctions, Hypoplastic... OMIM:187760
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Flexion contracture, Short neck, Thoracolumbar scoliosis, Acetab... OMIM:616549
Kyphosis, Abnormal form of the vertebral bodies, Increased bone mineral density, Sclerotic verteb... ORPHA:2777
N Syndrome
Hearing impairment, Leukemia, Neoplasm OMIM:310465
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Neuroblastoma, Lymphoma, Acute myeloid leukemia, Abnormal dense granule content, Thrombocytopenia... OMIM:601399
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Kyphosis, Abnormal form of the vertebral bodies, Joint stiffness, Vertebr... ORPHA:40
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Forsythe-Wakeling Syndrome
Decreased body weight, Thrombocytopenia, Macrotia, Low-set ears OMIM:613606
Femoral-Facial Syndrome
Abnormal sacrum morphology, Abnormality of pelvic girdle bone morphology, Preaxial foot polydacty... ORPHA:1988
Multiple Synostoses Syndrome 2
Carpal synostosis, Finger symphalangism, Proximal symphalangism, Vertebral fusion, Humeroradial s... OMIM:610017
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Short palm, Platyspondyly, Coxa vara ORPHA:168555
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma OMIM:619437
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Cardiomyopathy, Familial Hypertrophic, 12
Cardiomyopathy, Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia OMIM:612124
Nut Midline Carcinoma
Ewing sarcoma, Squamous cell carcinoma, Leukemia, Neuroblastoma, Neoplasm, Oropharyngeal squamous... ORPHA:443167
Tyrosinemia Type 1
Generalized aminoaciduria, Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carc... ORPHA:882
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Scoliosis, Ectopic ossi... OMIM:135100
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis OMIM:614480
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Kniest Dysplasia
Coronal cleft vertebrae, Enlarged joints, Short neck, Short thorax, Joint stiffness, Delayed epip... ORPHA:485
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae OMIM:184460
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Hemangioma, Neutropenia, Rhinitis, M... ORPHA:486
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Partial fusion of tarsals, Elbow flexion contracture, C... OMIM:305620
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Short thorax, Abnormal form of the ... ORPHA:1801
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Kaposi's sarcoma, Splenomegaly OMIM:615593
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Scoliosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae OMIM:616566
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Vertebral segmentation defect, Sacral dimple, Short thorax OMIM:618845
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Ventricular Tachycardia, Familial
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Multiple myeloma, L... ORPHA:98849
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Joint laxity, Scoliosis, Synostosis of carpals/tarsals, Fused cervical vertebr... OMIM:157800
Heart Defects-Limb Shortening Syndrome
Accelerated skeletal maturation, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib mo... ORPHA:1354
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly, Myelodysplasia OMIM:162830
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Severe short stature, Platyspondyly, Irregular femoral epiphysis, Scoliosis, Postnata... OMIM:618728
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Craniosynostosis, Short neck, Elbow flexion contracture, Knee flexion contract... OMIM:178110
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, Recurrent sinusitis, B lymphocytopenia OMIM:619281
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, A... ORPHA:86843
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Fanconi Anemia, Complementation Group D1
T-cell acute lymphoblastic leukemias, Acute myeloid leukemia, Bone marrow hypocellularity OMIM:605724
Autosomal Recessive Spondylocostal Dysostosis
Short neck, Short thorax, Kyphosis, Abnormal form of the vertebral bodies, Camptodactyly of finge... ORPHA:2311
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree atrioventr... OMIM:108770
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Reduced ejection fraction, Arrhythmia, Abnormal left ventricular funct... ORPHA:45452
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy, B-cell lymphoma ORPHA:52416
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Acrodysplasia Scoliosis
Spina bifida occulta, Vertebral segmentation defect, Scoliosis ORPHA:2956
Kbg Syndrome
Clinodactyly, Thoracic kyphosis, Cervical ribs, Radial deviation of finger, Syndactyly, Vertebral... OMIM:148050
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Flaring of rib cage, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swell... OMIM:612852
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Narrow iliac wing, Bowing of the legs, Hypoplastic pubic bone, Ovoid vertebr... OMIM:608728
Ataxia-Pancytopenia Syndrome
Pancytopenia, Hypoplastic anemia, Neutropenia, Anemia, Thrombocytopenia, Acute myelomonocytic leu... OMIM:159550
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Short femoral neck, Rhizomelia, Reduced sperm motility, Splenomegaly, Proxi... OMIM:602271
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventric... OMIM:614954
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Essential Thrombocythemia
Splenomegaly, Myelodysplasia, Acute leukemia, Abnormal platelet morphology ORPHA:3318
Wt Limb-Blood Syndrome
Pancytopenia, Leukemia, Hypoplastic anemia, Sensorineural hearing impairment, Thrombocytopenia OMIM:194350
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Premature ventricular contraction, Left bundle branch block, Presyncope,... OMIM:618920
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Hepatic failure, Autoimmune thrombocytopenia, Splenomegaly, Neoplasm of the liver... ORPHA:77293
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Kuskokwim Syndrome
Joint stiffness, Abnormal form of the vertebral bodies, Abnormal clavicle morphology, Scoliosis, ... ORPHA:1149
Amed Syndrome, Digenic
Leukopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Anemia, Failure to thrive, Myelo... OMIM:619151
Spondylosis, Cervical
Spondylolysis, Osteoarthritis, Spondylolisthesis, Spina bifida occulta, Cervical spondylosis OMIM:184300
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Large earlobe, Leukemia, Meningioma, Depressed nasal bridge, Nephroblastoma OMIM:602501
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Ventricular fibrillation, Torsade de pointes... OMIM:115000
Arnold-Chiari Malformation Type I
Cervical C2/C3 vertebral fusion, Abnormality of the twelfth cranial nerve, Scoliosis, Cranial ner... ORPHA:268882
Lymphedema, Primary, With Myelodysplasia
Pancytopenia, Myelodysplasia, Leukemia OMIM:614038
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Portal h... ORPHA:98850
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Retinal degeneration, Arrhythmia, Sick sinus syndrome OMIM:617173
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Atrial Standstill
Atrial standstill, Flexion contracture, Ventricular tachycardia, Arrhythmia, Congestive heart fai... ORPHA:1344
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Platyspondyly OMIM:269630
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Growth delay, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Hemoglobin E Disease
Intrauterine growth retardation, Splenomegaly, Miscarriage, Increased red blood cell count, Abnor... ORPHA:2133
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Osteogenesis Imperfecta, Type Xix
Osteopenia, Recurrent fractures, Vertebral wedging, Pectus excavatum, Scoliosis, Pectus carinatum... OMIM:301014
Storage Pool Platelet Disease
Decreased mean platelet volume, Myelodysplasia, Acute leukemia OMIM:185050
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular arrhythmia, Congestive hea... OMIM:600884
Lower Limb Malformation-Hypospadias Syndrome
Low-set, posteriorly rotated ears, Abnormality of the spleen, Macrotia ORPHA:2487
Becker Nevus Syndrome
Scoliosis, Cervical ribs, Hemivertebrae, Pectus excavatum OMIM:604919
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Abnormal vertebral morphology, Abnormal thorax morphology, Spina bifi... OMIM:102510
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Nephronophthisis 19
Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Stage 5 chron... OMIM:616217
Metatropic Dysplasia
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... OMIM:156530
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cupped ribs, Brachydactyly, Broad toe, Hypoplastic pubic bone, Delayed ossification of carpal bon... OMIM:609616
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Posterior rib fusion, Pectus excavatum, Abnormal rib cage morphology, Preaxial hand polydactyly, ... OMIM:608406
Primary Erythromelalgia
Leukemia ORPHA:90026
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Leukemia, Chronic Myeloid
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia OMIM:608232
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Fanconi Anemia, Complementation Group T
Pancytopenia, Bone marrow hypocellularity, Short thumb, Anemia, Duplication of thumb phalanx, Sho... OMIM:616435
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Brachydactyly, Type B1
Hypoplastic sacrum, Thoracolumbar scoliosis, Vertebral fusion, Delayed cranial suture closure, Ca... OMIM:113000
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Neutrophilia, Hepatomegaly, Failure to thrive,... OMIM:619644
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Splenomegaly, Wide nasal bridge, Hepatomegaly, Neutropenia, Anemia, Fail... OMIM:612541
Metatropic Dysplasia
Kyphosis, Abnormal form of the vertebral bodies, Camptodactyly of finger, Clinodactyly of the 5th... ORPHA:2635
Osteogenesis Imperfecta, Type Ix
Wormian bones, Decreased calvarial ossification, Kyphosis, Recurrent fractures, Multiple prenatal... OMIM:259440
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Breast carcinoma, Splenomegaly, Hepatomegaly, B-cell lymphoma, Lymphadenopathy ORPHA:86893
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Sprengel anomaly, Fused cervical vertebrae, Butterfly vertebrae, Spina bifida o... OMIM:619227
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Joint stiffness, Enlarged interphalangeal joints, Genu recurvatu... OMIM:151200
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Decreased body weight, Posteriorly rotated ears, Small for gestational age, Macrotia OMIM:618392
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Vertebral fusion, Butterfly vertebrae, ... ORPHA:313892
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Kyphosis, Abnorm... ORPHA:3344
Shwachman-Diamond Syndrome 1
Pancytopenia, Enlargement of the costochondral junction, Anterior rib cupping, Ovoid vertebral bo... OMIM:260400
Mast Cell Sarcoma
Mastocytosis, Sarcoma, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Systolic heart murmur, Congestive heart failure, Le... ORPHA:99105
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormality of fibula morphology, Abn... ORPHA:1836
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Cutaneous Neuroendocrine Carcinoma
Neoplasm of the outer ear, Multiple myeloma, Brain neoplasm, Squamous cell carcinoma of the skin,... ORPHA:79140
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Tachycardia, Hypertension OMIM:602079
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Anterior clefting of vertebral bodies, Kyphosis, Popliteal pterygium, Disl... OMIM:265000
Myeloproliferative disorder, Splenomegaly OMIM:254450
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Cervical ribs, Scoliosis, Patellar dislocation, Fused cervical vertebrae, Aplasia/Hyp... ORPHA:3320
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Missing ribs, Block vertebrae, Short neck, Short ribs, Thin ribs, Supernumerary vertebrae, Scolio... OMIM:271520
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Pancytopenia, Premature graying of hair, Bone marrow hypocellularity, Anemia, Myelodysplasia, Mye... OMIM:614742
Congenital Disorder Of Glycosylation, Type Iik
Growth delay, Short stature, Metaphyseal dysplasia, Kyphoscoliosis, Thrombocytopenia, Diaphyseal ... OMIM:614727
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Myelodysplas... ORPHA:846
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Thrombocytopenia OMIM:166990
Preeclampsia/Eclampsia 1
Thrombocytopenia, Intrauterine growth retardation OMIM:189800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Progressive hearing impairment, Leukocytosis, Cervical lymphadenopathy, Anemi... ORPHA:514
Cardiomyopathy, Dilated, 1Y
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:611878
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Otoonychoperoneal Syndrome
Abnormality of the ear, Low-set ears, Prominent superior crus of antihelix, Posteriorly rotated e... OMIM:259780
Congenital Disorder Of Glycosylation, Type Iig
Short neck, Intrauterine growth retardation, Rhizomelia, Abnormal rib morphology, Anemia, Scolios... OMIM:611209
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Hepatit... ORPHA:444463
Leber Hereditary Optic Neuropathy
Ventricular preexcitation, Arrhythmia, Optic atrophy, Retinal vascular tortuosity, Retinal telang... ORPHA:104
Variegate Porphyria
Tachycardia OMIM:176200
Noonan Syndrome 6
Long eyebrows, Low-set ears, Sensorineural hearing impairment, Wide nasal bridge, Juvenile myelom... OMIM:613224
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:618495
Noonan Syndrome 12
11 pairs of ribs, Thrombocytopenia, Pectus excavatum, Spinal canal stenosis, Proximal placement o... OMIM:618624
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold OMIM:605750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis, Vertebral fusion, Facial palsy OMIM:606612
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
11P15.4 Microduplication Syndrome
Obesity, Highly arched eyebrow, Macrotia, Posteriorly rotated ears, Synophrys, Anteverted nares ORPHA:300305
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Wide-cupped cos... OMIM:187601
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Bence Jones Proteinuria, Lymphadenopat... ORPHA:100024
Axial Spondylometaphyseal Dysplasia
Cupped ribs, Abnormal ilium morphology, Delayed ossification of carpal bones, Aplasia/Hypoplasia ... ORPHA:168549
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Metaphyseal irregularity, Anterior rib cupping, Hypoplastic pubic bone, Delayed pu... OMIM:184250
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Growth delay, Sclerotic vertebral endplates, Anemia, Reticulocy... OMIM:611490
Holoprosencephaly, Recurrent Infections, And Monocytosis
Failure to thrive, Monocytosis OMIM:610680
Lig4 Syndrome
Pancytopenia, Leukocytosis, Lymphoma, Wide nasal bridge, Hepatomegaly, Low anterior hairline, Lym... ORPHA:99812
Familial Drusen
Macular hyperpigmentation, Subretinal fluid, Abnormality of retinal pigmentation, Reticular pigme... ORPHA:75376
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia OMIM:615234
17Q21.31 Microduplication Syndrome
Generalized hirsutism, Abnormality of the outer ear, Thick eyebrow, Failure to thrive, Synophrys,... ORPHA:217340
Intellectual Developmental Disorder, X-Linked 97
Obesity, Macrotia OMIM:300803
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Spondyloepimetaphyseal Dysplasia, Irapa Type
Enlargement of the costochondral junction, Hypoplastic sacrum, Short palm, Short metacarpal, Uppe... OMIM:271650
Verheij Syndrome
Short neck, Scoliosis, Vertebral fusion, Hemivertebrae, Hip dislocation OMIM:615583
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Short neck OMIM:244600
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Joint hypermobility, Scoliosis, Bowing of limbs du... OMIM:615220
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Normochromic anem... ORPHA:98826
Fanconi Anemia, Complementation Group I
Optic nerve hypoplasia, Short neck, Fused cervical vertebrae OMIM:609053
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Short neck, Thoracic platyspondyly, 11 pairs of ri... OMIM:108720
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Mosaic Trisomy 20
Kyphosis, Down-sloping shoulders, Scoliosis, Spinal canal stenosis, Vertebral fusion, Fused cervi... ORPHA:1724
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ischia, Hypoplastic pubic bone, Short neck, Short ribs, Thin ribs, Metaphyseal cuppin... OMIM:151210
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Acrocapitofemoral Dysplasia
Cupped ribs, Genu varum, Small finger, Delayed ossification of carpal bones, Cone-shaped metacarp... OMIM:607778
Bruck Syndrome 1
Kyphosis, Pterygium, Vertebral wedging, Joint laxity, Osteoporosis, Increased susceptibility to f... OMIM:259450
Chronic leukemia, Mastocytosis, Sarcoma, Splenomegaly, Hepatomegaly, Acute leukemia ORPHA:98292
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Anemia, Congenital Dyserythropoietic, Type Ib
Splenomegaly, Anisocytosis, Jaundice, Hepatomegaly, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Lymphoma, Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased... OMIM:300853
Diencephalic Syndrome
Neoplasm of the nervous system, Decreased body weight, Macrotia, Cachexia ORPHA:1672
Immunodeficiency 36
Chronic lymphatic leukemia, Splenomegaly, Lymphopenia, B-cell lymphoma OMIM:616005
Osteogenesis Imperfecta, Type Vi
Vertebral compression fracture, Joint laxity, Beaking of vertebral bodies, Increased susceptibili... OMIM:613982
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Small for gestational age, Failure to thrive, Posteriorly rotated ears, Macrotia OMIM:609425
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Cirrhosis, Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Elevat... OMIM:616860
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal detachment, Exudative retinal detachment, Pulmonic stenosis, Retinal arterial macroaneurysms OMIM:614224
Cerebrofaciothoracic Dysplasia
Short neck, Bifid ribs, Scoliosis, Sprengel anomaly, Narrow chest, Vertebral segmentation defect,... ORPHA:1394
Schneckenbecken Dysplasia
Brachydactyly, Advanced ossification of carpal bones, Metaphyseal irregularity, Anterior rib cupp... OMIM:269250
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Sudden cardiac death, Ventricular arrhythmia, Congestive heart failure OMIM:601493
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Amegakaryocytic thrombocytopenia, Thrombocytopenia OMIM:604498
Refractory Anemia With Excess Blasts
Leukocytosis, Bone marrow hypocellularity, Acute myeloid leukemia, Abnormal mean corpuscular volu... ORPHA:86839
Tachycardia, Hypotension OMIM:236800
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Intrauterine growth retardation ORPHA:1980
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Short neck, Abnormal rib morphology ORPHA:2578
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Absent ankle pulse, Myocardial infarction, Abnormality of venous p... ORPHA:90064
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:615916
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Jervell And Lange-Nielsen Syndrome 2
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:612347
Neuronal Intranuclear Inclusion Disease
Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies, Optic atrophy ORPHA:2289
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Splenomegaly, Hepatomegaly ORPHA:417
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia, Failure to thrive, Recurrent otitis media OMIM:616022
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:610293
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia, Intrauterine growth retardation ORPHA:295
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Lymphoproliferative ... ORPHA:90033
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B-cell lymphoma, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Thin ribs, Joint dislocation, Increased susceptibility to fractures, Abnorma... OMIM:312150
Mismatch Repair Cancer Syndrome 1
Plexiform neurofibroma, Non-Hodgkin lymphoma, Neuroblastoma, Rhabdomyosarcoma, Leukemia, Lymphoma... OMIM:276300
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Myelodysplasia, Chronic myelogenous leukemia ORPHA:71493
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Bazex-Dupré-Christol Syndrome
Hypoplasia of the ear cartilage, Coarse hair, Pili torti, Sparse eyebrow, Trichorrhexis nodosa, S... ORPHA:113
Chronic Atrial And Intestinal Dysrhythmia
Decreased body weight, Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndro... OMIM:616201
Barth Syndrome
Neutropenia, Failure to thrive, Granulocytopenia, Macrotia OMIM:302060
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Dermotrichic Syndrome
Hyperconvex toenail, Nail dystrophy, Anemia, Depressed nasal bridge, Macrotia, Short nose ORPHA:99688
Gray Platelet Syndrome
Myelodysplasia, Splenomegaly, Thrombocytopenia ORPHA:721
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:205950
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Cardiac arrest, Atrial fibrillation, Supraventricular tachycardia, Atriov... OMIM:612158
Chromosome 18P Deletion Syndrome
Wide nasal bridge, Macrotia, Small for gestational age OMIM:146390
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular function, Congestive heart fail... ORPHA:300751
Bone Marrow Failure Syndrome 2
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia OMIM:615715
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Scoliosis, Thoracic hemivertebrae, Abnormal thorax morphology ORPHA:1445
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Reduced ejection fraction, Arrhythmia, Congestive heart fa... ORPHA:217607
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:206100
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Cholestasis, Proteinuria, Splenomegaly, Hepatomegaly, Nephropathy OMIM:105200
Bloom Syndrome
Recurrent upper respiratory tract infections, Squamous cell carcinoma, Leukemia, Small for gestat... OMIM:210900
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Thin ribs, Joint dislocation, Increased susceptibility to fractures, Abnorma... OMIM:253290
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia, Growth delay, Adducted thumb OMIM:601815
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... ORPHA:93351
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cupped ribs, Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral ... OMIM:608940
Schimke Immunoosseous Dysplasia
Thoracic kyphosis, Ovoid vertebral bodies, Short neck, Shallow acetabular fossae, Lateral displac... OMIM:242900
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemi... OMIM:616278
Neoplasm of the gastrointestinal tract, Non-Hodgkin lymphoma, Neoplasia of the pleura, Leukemia, ... ORPHA:99867
Alpha-Heavy Chain Disease
Lymphoma, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites ORPHA:100025
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Myotonia With Skeletal Abnormalities And Mental Retardation
Vertebral wedging, Irregular femoral epiphysis, Bell-shaped thorax, Pectus carinatum, Kyphoscolio... OMIM:255710
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:613424
Trisomy 4P
Thick eyebrow, Abnormal hair pattern, Low-set, posteriorly rotated ears, Depressed nasal bridge, ... ORPHA:1738
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Polycythemia Vera
Portal hypertension, Splenomegaly, Hepatomegaly, Myelodysplasia, Acute leukemia ORPHA:729
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Carpal bone hypoplasia, Short neck, Dislocated radial head, Thin ribs, Joint laxity, Platyspondyl... OMIM:618395
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Syncope, Tachycardia, Premature ventricular contraction OMIM:192445
Retinitis Pigmentosa 59
Micropenis, Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency OMIM:613861
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormality of the humeroulnar joint, Abnormal form of the vertebral bodies, Abnormal... ORPHA:2234
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis OMIM:271500
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Abnormal ... ORPHA:337
Kbg Syndrome
Thoracic kyphosis, Short neck, Cervical ribs, Persistent open anterior fontanelle, Scoliosis, Ver... ORPHA:2332
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Tibial bowing, Pear-shaped vertebrae, Femoral... OMIM:602111
Glossopharyngeal Neuralgia
Schwannoma, Cranial nerve compression, Abnormality of the cervical spine, Abnormal glossopharynge... ORPHA:221098
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Ascites, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic tr... OMIM:301045
Spondylometaphyseal Dysplasia, Kozlowski Type
Carpal bone hypoplasia, Halberd-shaped pelvis, Short neck, Delayed ossification of carpal bones, ... OMIM:184252
Niemann-Pick Disease, Type B
Splenomegaly, Anemia, Short stature, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocyt... OMIM:607616
Histidinuria Due To A Renal Tubular Defect
Sensorineural hearing impairment, Wide nasal bridge, Macrotia OMIM:235830
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Elevated hepatic transaminase, C... ORPHA:79301
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Testicular seminoma ORPHA:281090
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Anemia, Elevated hepatic transaminase, Cirrhosis, Hepatic fibrosis OMIM:613313
Macdermot-Winter Syndrome
Highly arched eyebrow, Low anterior hairline, Posteriorly rotated ears, Frontal upsweep of hair, ... OMIM:247990
Fatty Acyl-Coa Reductase 1 Deficiency
Depressed nasal bridge, Macrotia, Short nose, Highly arched eyebrow ORPHA:438178
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Histidinuria-Renal Tubular Defect Syndrome
Sensorineural hearing impairment, Wide nasal bridge, Macrotia ORPHA:2158
Ring Chromosome 6 Syndrome
Wide nasal bridge, Macrotia ORPHA:1448
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Elbow dislocation,... ORPHA:2916
Dk Phocomelia Syndrome
Thrombocytopenia, Phocomelia OMIM:223340
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Decreased proportion of memory B cells, Hepatosplenomegaly, Recurrent upp... OMIM:615559
Nijmegen Breakage Syndrome
Hearing abnormality, Rhabdomyosarcoma, Lymphoma, Abnormal hair morphology, Autoimmune hemolytic a... ORPHA:647
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Intellectual Disability, Wolff Type
Abnormality of the nail, Bulbous nose, Wide nasal bridge, Macrotia, Hypoplastic superior helix, L... ORPHA:3080
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, Splenomegaly, ... OMIM:619375
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the... ORPHA:3109
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Hypoplastic vertebral bodies, Narrow chest, Pectus excavatum, Spinal canal ste... OMIM:263540
Rafiq Syndrome
Underdeveloped nasolabial fold, Long eyebrows, Bulbous nose, Sparse lateral eyebrow, Low-set ears... OMIM:614202
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Saul-Wilson Syndrome
Coxa valga, Intrauterine growth retardation, Cone-shaped epiphyses of the phalanges of the hand, ... OMIM:618150
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Short thorax, Postax... ORPHA:474
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia, Verrucae OMIM:614868
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae ORPHA:1780
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial tachyc... OMIM:614022
Diffuse Cutaneous Mastocytosis
Abnormality of the liver, Myeloproliferative disorder, Hepatomegaly, Lymphadenopathy, Abnormality... ORPHA:79456
Pelger-Huet Anomaly
Kyphosis, Short 5th metacarpal, Short 4th metacarpal, Upper limb undergrowth, Giant platelets, Mi... OMIM:169400
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Frontometaphyseal Dysplasia
Limitation of knee mobility, Limitation of movement at ankles, Craniosynostosis, Dislocated radia... ORPHA:1826
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myeloid leukemia OMIM:616604
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alanine aminotransferase concentration, Cholestasis, Hepatic bridging fibros... OMIM:619658
Bleeding Disorder, Platelet-Type, 19
Anemia, Menorrhagia, Macrothrombocytopenia OMIM:616176
Ivic Syndrome
Synostosis of carpal bones, Leukocytosis, Severe short stature, Triphalangeal thumb, Aplastic cla... ORPHA:2307
Hodgkin Lymphoma
Lymphoma, Splenomegaly, Hepatomegaly, Neoplasm, Lymphadenopathy ORPHA:98293
Chilblain Lupus
Chronic myelomonocytic leukemia ORPHA:90280
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
Acrofacial Dysostosis, Palagonia Type
Hypoplasia of the odontoid process, Abnormal vertebral morphology, Spina bifida occulta at S1, Sc... OMIM:601829
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia, Weight loss OMIM:613239
Dwarfism, Familial, With Muscle Spasms
Low-set ears, Sparse scalp hair, Fine hair, Macrotia, Brittle scalp hair, Large beaked nose OMIM:600771
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Scoliosis, Delayed puberty, Kyphosis ORPHA:2598
Nasu-Hakola Disease
Acute leukemia ORPHA:2770
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Warburg Micro Syndrome 1
Low-set ears, Wide nasal bridge, Failure to thrive, Macrotia, Hypertrichosis, Anteverted nares, F... OMIM:600118
Macrocephaly/Autism Syndrome
Obesity, Splenomegaly, Hepatomegaly, Depressed nasal bridge, Lymphopenia, Short nose OMIM:605309
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Thrombocytopenia OMIM:616913
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Abnormal hip bone morphology, Abnormal pelvis bone morpholog... ORPHA:239
Von Willebrand Disease, Type 2
Menorrhagia, Thrombocytopenia OMIM:613554
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Multiple Symmetric Lipomatosis
Multiple lipomas, Hepatomegaly ORPHA:2398
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic failure, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616719
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Abnormality of the nail, Lymphoma, Splenomegaly, Hepatomegaly, Cu... ORPHA:2584
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Recurrent otitis media, Leukopenia, Hepatosplenomegaly, Impaired... OMIM:618986
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Shoulder subluxation, Thoracic scoliosis, Thoracic kyphosis, Short neck, Cervical hemivertebrae, ... ORPHA:508498
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... ORPHA:563
Dyggve-Melchior-Clausen Disease