Gene Summary

Name:
TYRO3 protein tyrosine kinase 3
Synonyms:
Sky,  Dtk,  Tif,  Etk-2,  Rse,  Brt

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal skin morphology Tyro3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Tyro3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal lymph node morphology Tyro3em1(IMPC)Ccpcz HOM Early adult 0.00
polysyndactyly Tyro3em1(IMPC)Ccpcz HOM Early adult 6.61×10-17
abnormal digit morphology Tyro3em1(IMPC)Ccpcz HOM Early adult 4.91×10-05
enlarged heart Tyro3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal tooth morphology Tyro3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal testis morphology Tyro3em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Tyro3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Tyro3em1(IMPC)Ccpcz HOM Early adult 0.00
small testis Tyro3em1(IMPC)Ccpcz HOM Early adult 0.00
decreased heart rate Tyro3em1(IMPC)Ccpcz HOM   Early adult 6.78×10-05
abnormal eye morphology Tyro3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal lung morphology Tyro3em1(IMPC)Ccpcz HOM Early adult 0.00
increased eosinophil cell number Tyro3em1(IMPC)Ccpcz HOM Early adult 4.27×10-05

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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.

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Hind Leg and Hip

30 Images

Human diseases caused by Tyro3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tyro3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Kifafa Seizure Disorder
Seizure OMIM:245180
Intellectual Developmental Disorder, Autosomal Dominant 3
Seizure OMIM:612580
Intellectual Developmental Disorder, Autosomal Recessive 10
Seizure OMIM:611096
Intellectual Developmental Disorder, X-Linked 96
Seizure OMIM:300802
Intellectual Developmental Disorder, X-Linked 88
Seizure OMIM:300852
15q13.3 microdeletion syndrome
Seizure DECIPHER:74
Epilepsy, Nocturnal Frontal Lobe, 3
Seizure OMIM:605375
Intellectual Developmental Disorder, Autosomal Dominant 10
Seizure OMIM:614256
Epilepsy, Nocturnal Frontal Lobe, 1
Focal-onset seizure, Seizure OMIM:600513
Roifman Syndrome
Epiphyseal dysplasia, Recurrent pneumonia, Short toe, Downturned corners of mouth, Long philtrum,... ORPHA:353298
Roifman Syndrome
Recurrent pneumonia, Short toe, Downturned corners of mouth, Long philtrum, Irregular femoral epi... OMIM:616651
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e... ORPHA:75566
Eosinophilia, Familial
Leukocytosis, Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infil... OMIM:131400
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal heart morphology, Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Abno... ORPHA:294975
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Timothy Syndrome
Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric... OMIM:601005
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Joint contracture of the hand, Hip dislocation, Dental crowding, Eosinophilia, Clubbing, Macroglo... OMIM:618523
Squamous Cell Carcinoma Of The Esophagus
Clinodactyly of the 5th toe, Lymphadenopathy ORPHA:99977
Hepatic Venoocclusive Disease With Immunodeficiency
Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no... ORPHA:1344
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... ORPHA:3246
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... OMIM:602450
Acitretin/Etretinate Embryopathy
Abnormality of the calcaneus, Third degree atrioventricular block, Atrioventricular canal defect,... ORPHA:40366
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Sinusitis, Monocyt... OMIM:226990
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacyt... ORPHA:60026
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic a... OMIM:601859
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Bradycardia, Micropenis, Hyp... OMIM:618815
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Bardet-Biedl Syndrome 5
Hypogonadism, External genital hypoplasia, Polydactyly, Brachydactyly, Micropenis, Syndactyly OMIM:615983
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Omenn Syndrome
Pneumonia, Short toe, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, E... ORPHA:39041
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia, Abnormality of the gingiva ORPHA:517
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Long philtrum, Narrow mouth, Oligodontia, T... OMIM:618092
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Abnormal pleura morphology, Eosinophilia ORPHA:2582
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... OMIM:616201
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Bardet-Biedl Syndrome 4
Abnormality of the dentition, Hypogonadism, External genital hypoplasia, Cryptorchidism, Polydact... OMIM:615982
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Abnormality of the dentition, Recurrent upper respiratory tract infections, Type I diabetes melli... OMIM:615952
Autoimmune Lymphoproliferative Syndrome, Type Iia
Vasculitis, Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Follicular hyperp... OMIM:603909
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Abnormality of the dentition, Recurrent pneumonia, Cutaneous abscess, Micrognathia, Recurrent sin... OMIM:618282
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Decreased proportion of CD8-positive T cells, Lymph... ORPHA:169154
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Heart-Hand Syndrome Type 2
Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder mor... ORPHA:1350
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, Oral ulcer... ORPHA:486
Immunodeficiency 104
Pneumonia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatomegaly, T lymphocytopenia OMIM:608971
Cyclic Neutropenia
Recurrent tonsillitis, Periodontitis, Atrophy of alveolar ridges, Cervical lymphadenopathy, Lymph... ORPHA:2686
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Polysplenia, Preaxial foot polydactyly, External ... ORPHA:65759
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Hepatosplenome... OMIM:274000
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Omenn Syndrome
Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadeno... OMIM:603554
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Bardet-Biedl Syndrome 11
Hypogonadism, Polydactyly OMIM:615988
Bardet-Biedl Syndrome 7
Clinodactyly, Hypogonadism, Narrow mouth, Malar flattening, Polydactyly, 2-3 toe syndactyly, Post... OMIM:615984
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 88
Eosinophilia OMIM:619630
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T ... ORPHA:911
Cystic Echinococcosis
Peritoneal abscess, Pulmonary cyst, Abnormality of the testis size, Abnormal heart morphology, Sp... ORPHA:400
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Ethanolaminosis
Cardiomegaly OMIM:227150
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Aspergillosis
Pneumonia, Pleural effusion, Abnormal long bone morphology, Eosinophilia, Hypersensitivity pneumo... ORPHA:1163
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Bradycardia, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616276
Trimethylaminuria
Recurrent pneumonia, Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Drug Reaction With Eosinophilia And Systemic Symptoms
Interstitial pneumonitis, Eosinophilia, Lymphocytosis, Lymphadenopathy, Enanthema, Myocarditis, C... ORPHA:139402
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Paroxysmal Extreme Pain Disorder
Tachycardia, Mandibular pain, Bradycardia OMIM:167400
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Adenocarcinoma Of The Esophagus
Clinodactyly of the 5th toe, Lymphadenopathy ORPHA:99976
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Bronchiectasis OMIM:617638
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Long philtrum, Thick lower lip vermilion, Joint contracture of the 5th fi... OMIM:614407
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia OMIM:607115
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Congestive heart failure, Left ventricular hypertrophy, Bradycardia, Hep... OMIM:619048
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells, Increased B cell cou... OMIM:618982
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Abnorma... ORPHA:324410
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Respiratory tract infection, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopa... ORPHA:444463
Jawad Syndrome
Retrognathia, Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal cr... OMIM:251255
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Adrenal cortical sclerosis, Growth arrest lines, Abnormal pelvic girdle bone morpholog... OMIM:102700
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th... ORPHA:508533
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro... ORPHA:98849
Metaphyseal Chondrodysplasia, Spahr Type
Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Bowing of the long bo... ORPHA:2501
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Azoospermia, Pleural effusion, Splenomegaly, Cardiomega... OMIM:235200
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Recurrent sinopulmonary infections, Lymphadenopathy, Increased proportion of transi... OMIM:615513
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Male hypogonadism, Azoospermia, Syndactyly OMIM:241000
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur... ORPHA:330001
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu... ORPHA:66529
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Natal tooth, Lymphopenia, Micrognathia, Pul... OMIM:617237
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Cardiomegaly, Thin upper lip vermilion, Enamel hypoplasia, Syndactyly OMIM:613576
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... OMIM:620135
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Abnormal epiphysis morphology, Elevated... ORPHA:95716
Filippi Syndrome
2-4 toe syndactyly, Finger clinodactyly, Serrated incisors, Abnormal dental morphology, Cryptorch... OMIM:272440
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Joint contracture of the hand, Ventricular hypertrophy, Retrognathia,... OMIM:300280
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Wahab Syndrome
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... OMIM:615170
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Recurrent bronchiti... OMIM:300853
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia OMIM:618235
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Congestive heart failure, Single transverse p... OMIM:253250
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Bardet-Biedl Syndrome 10
Hypogonadism, Polydactyly OMIM:615987
Idiopathic Congenital Hypothyroidism
Abnormal epiphysis morphology, Elevated circulating thyroid-stimulating hormone concentration, De... ORPHA:95717
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Pleural effusion, Cardiomegaly, Bradycardia, Pericardial effusion OMIM:614702
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616277
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnorma... ORPHA:443811
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly, S... OMIM:610140
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, H... OMIM:261740
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD... ORPHA:331206
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Elevated circulating thyroid-stim... ORPHA:226313
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Lymphopenia, Hepatosplenomegaly, Eosinophilia, Decreased proporti... ORPHA:169160
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradycardia, T... ORPHA:70587
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Decreased FOXP3-expressing T cell count, Eosinophilia, Hypothyroidism, ... OMIM:304790
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Bro... OMIM:175700
Lymphatic Filariasis
Lymphadenitis, Hypereosinophilia, Abnormal scrotum morphology, Orchitis, Abnormality of the lymph... ORPHA:2035
Idiopathic Hypereosinophilic Syndrome
Swelling of proximal interphalangeal joints, Hepatosplenomegaly, Myocardial eosinophilic infiltra... ORPHA:3260
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ven... OMIM:602782
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Hepatomega... OMIM:115197
Infantile Sialic Acid Storage Disease
Congestive heart failure, Gingival overgrowth, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolat... OMIM:269920
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog... ORPHA:183
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Lymphopenia, Single transverse... OMIM:617425
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell co... OMIM:617514
Microphthalmia, Isolated 4
Postaxial polydactyly, Absent testis OMIM:613094
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis... OMIM:608800
Bardet-Biedl Syndrome 16
Bronchiolitis, Hypogonadism, External genital hypoplasia, Polydactyly, Recurrent respiratory infe... OMIM:615993
16P12.1P12.3 Triplication Syndrome
Short 5th finger, High, narrow palate, Prominent fingertip pads, Long philtrum, Bilateral cryptor... ORPHA:485405
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Decreased response to growth hormone st... ORPHA:1263
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Orofaciodigital Syndrome Xvii
High, narrow palate, Clinodactyly, Retrognathia, Tetralogy of Fallot, Partial duplication of thum... OMIM:617926
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Ve... OMIM:113000
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Ext... OMIM:615996
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormality of the parathyroid gland, ... ORPHA:3429
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph... OMIM:619164
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent pneumonia, Reduced natural killer cell count, Cutaneous abscess, Cerebral vasculitis, D... OMIM:243700
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Preaxial polydactyly, Genu valgu... OMIM:617927
Neurooculocardiogenitourinary Syndrome
Downturned corners of mouth, Bilateral cryptorchidism, Tricuspid regurgitation, Patent foramen ov... OMIM:618652
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Abnormal T cell count, Recurrent bronchitis, Recurrent sinusitis,... OMIM:607594
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal morphology of female internal genit... ORPHA:2141
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Corneal neovascularization, Palmopl... OMIM:617388
Pleural Mesothelioma
Abnormal pleura morphology, Abnormal cardiovascular system physiology, Pleural effusion, Lymphade... ORPHA:50251
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:157801
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Glycogen Storage Disease Iv
Cardiomyopathy, Hepatosplenomegaly, Portal hypertension, Talipes equinovarus, Bradycardia OMIM:232500
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Congestive heart failure OMIM:300886
Lethal Congenital Contracture Syndrome 10
Narrow palate, Long philtrum, Overlapping fingers, Femoral bowing, Micrognathia, Ventricular sept... OMIM:617022
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Alveolar Echinococcosis
Pulmonary cyst, Cutaneous abscess, Abnormal pericardium morphology, Budd-Chiari syndrome, Portal ... ORPHA:284
Incontinentia Pigmenti
Deviation of finger, Finger syndactyly, Delayed eruption of teeth, Camptodactyly of finger, Super... ORPHA:464
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Syndactyly, Testicular atrophy, Clinodactyly of the 5th finger, Pulmonary hypoplasia OMIM:601163
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Hypogonadism, Abnormality of the thyroid gland, Arrhythmia, Bradycardia, Prematur... OMIM:609286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Scapular winging OMIM:253600
Coccidioidomycosis
Pneumonia, Vasculitis, Vasospasm, Granuloma, Abnormality of the male genitalia, Exudative pleural... ORPHA:228123
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Clinodactyly, Cryptorchidism, Short foot, Curved ... OMIM:305400
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... OMIM:142900
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... OMIM:605289
Burkitt Lymphoma
Gastrointestinal hemorrhage, Neoplasm of the oral cavity, Abnormality of the ovary, Abnormality o... ORPHA:543
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Suleiman-El-Hattab Syndrome
Microretrognathia, Clinodactyly, Downturned corners of mouth, Long philtrum, Thick lower lip verm... OMIM:618950
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Pyle Disease
Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persistence of primary teeth,... OMIM:265900
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Hypereosinophilia, Pleural effusion, Leukocytosis, Hypersensitivity pneumonitis ORPHA:2902
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Clinodactyly, Short thumb, Micrognathia, Cryptorchidism, Oligodont... OMIM:600325
Glutamine Deficiency, Congenital
Micromelia, Bradycardia, Camptodactyly, Recurrent respiratory infections, Thin vermilion border OMIM:610015
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Recurrent respiratory infections OMIM:620532
Immunodeficiency 27A
Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femoral head, Lympha... OMIM:209950
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatomegaly OMIM:618852
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal test... ORPHA:54251
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Cor pulmonale, Recurrent pneumonia, Erythematous oral mucosa, Furrowed tongue, Corneal... OMIM:158310
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Absence of lymph node germinal... ORPHA:277
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Clinodactyly, Accessory oral frenulum, Mitral regurgitation, Patent f... ORPHA:88630
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Abnormality of the dentition, Delayed eruption of teeth, Atelectasis, Eosinophilia, Gingivitis, R... ORPHA:2314
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricul... OMIM:212138
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Broad thumb, Aplasia/Hypoplasia of the radius, Fi... ORPHA:392
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Retrognathia, Preaxial polydactyly, Overlapping toe, Overlapping fingers, Micrognathia, Ventricul... OMIM:618142
Charlie M Syndrome
Finger syndactyly, Tooth agenesis, Micrognathia, Narrow mouth, Abnormal metacarpal morphology, Tr... ORPHA:1406
Idiopathic Acute Eosinophilic Pneumonia
Abnormal pleura morphology, Abnormal eosinophil morphology ORPHA:724
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Pelger-Huet Anomaly
Abnormality of the dentition, Short 3rd metacarpal, Giant platelets, Upper limb undergrowth, Shor... OMIM:169400
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Cryptorchidism, V... ORPHA:2256
48,Xxyy Syndrome
Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchidism, Radioulna... ORPHA:10
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly, Hypothyroidism OMIM:618999
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Hereditary Folate Malabsorption
Pancytopenia, Glossitis, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Recurrent respirat... ORPHA:90045
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Andersen-Tawil Syndrome
Small hand, Polymorphic and polytopic ventricular extrasystoles, Torsade de pointes, Bidirectiona... ORPHA:37553
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Abnormal T cell count, Recurrent bronchitis, Recurrent sinusitis, Follicular... OMIM:240500
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... ORPHA:3092
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Bradycardia OMIM:620265
Congenital Fibrinogen Deficiency
Gingival bleeding, Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertro... ORPHA:335
Lig4 Syndrome
Acute leukemia, Pancytopenia, Micrognathia, Type II diabetes mellitus, Cryptorchidism, Leukocytos... ORPHA:99812
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Bifid uvula, Abnormality of the dentition... OMIM:157900
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Lymphadenitis, Lymphop... OMIM:618986
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Recurrent sinusitis, Generalized lymphadenopathy, Absent circulating ... OMIM:620282
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Decreased serum testosterone concentration, Decreased l... ORPHA:465508
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Immunodeficiency 25
Eosinophilia, Recurrent pneumonia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Carious teeth, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Cryptorchidism, Abnormal p... ORPHA:2701
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Splenomegaly, Chronic sinusitis, Lymphadenopathy, B lymphocytop... ORPHA:397596
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Mitral regurgitation, Cubitus valgus,... OMIM:619750
Distal Duplication 18Q
Carious teeth, Deviation of finger, Camptodactyly of finger, Abnormal female external genitalia m... ORPHA:1716
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Hypothyroidism Due To Tsh Receptor Mutations
Abnormal epiphysis morphology, Elevated circulating thyroid-stimulating hormone concentration, De... ORPHA:90673
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Sarcoidosis
Abnormal lymph node morphology, Abnormal pleura morphology, Abnormal reproductive system morpholo... ORPHA:797
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pulmonary hypoplasia, Unilateral cleft lip, Flared metaphysis, Decreased fibular diameter, Hypert... OMIM:616897
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... ORPHA:542306
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
O'Sullivan-Mcleod Syndrome
Intrinsic hand muscle atrophy, Eosinophilia, Hand muscle weakness ORPHA:99965
Rubinstein-Taybi Syndrome 2
Narrow palate, Broad thumb, Carious teeth, Prominent fingertip pads, Short 5th toe, Broad hallux,... OMIM:613684
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Cryptorchidism, Polydactyly, Hypoplastic ischia, Hypospadias OMIM:616910
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Microphallus, Bifid scrotum, Micrognathia, Abnormal scrotum morph... ORPHA:397590
Immunodeficiency 23
Lymphopenia, Abscess, Eosinophilia, Vasculitis in the skin, Neutropenia, High palate, Recurrent r... OMIM:615816
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Hemothora... ORPHA:199241
Cantu Syndrome
Erlenmeyer flask deformity of the femurs, Congenital hypertrophy of left ventricle, Broad hallux,... OMIM:239850
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Epididymitis, Recurrent upper and lower respiratory tract infections OMIM:608106
Cardioacrofacial Dysplasia 1
Hypoplasia of the maxilla, Conical tooth, Diastema, Atrioventricular canal defect, Genu valgum, C... OMIM:619142
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Recurr... OMIM:619846
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Naxos Disease
Dilated cardiomyopathy, Palmoplantar keratoderma, Congestive heart failure, Abnormal heart morpho... OMIM:601214
Peeling Skin Syndrome 1
Eosinophilia, Palmoplantar hyperhidrosis OMIM:270300
Hamamy Syndrome
Hypochromic anemia, Microcytic anemia, Micrognathia, Cryptorchidism, Mitral regurgitation, Atrial... OMIM:611174
Congenital Toxoplasmosis
Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia ORPHA:858
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Situs inversus totalis, Hypospadias, Hypogonadism OMIM:615985
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia OMIM:603552
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, Median cleft upper lip, High palate, Recurrent aspiration pneumonia, Cl... OMIM:300484
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Impotence ORPHA:85447
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia, Cheilitis ORPHA:293173
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Type I diabetes mellitus, Hypotension, Pituitary adenoma, Graves disease, Adre... ORPHA:199299
Acrofacial Dysostosis, Catania Type
Carious teeth, Micrognathia, Cryptorchidism, Single transverse palmar crease, Malar flattening, C... OMIM:101805
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Abnormal epiphysis morphology, Incr... ORPHA:90674
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulat... OMIM:618775
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Abnormal lymph node morphology, Goiter, Chronic noninfectious lymph... ORPHA:319487
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Natal tooth, Cardiomyopathy, Camptodactyly of toe, Cardiomegaly, 2-3 finger sy... ORPHA:158687
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Postaxial polydactyly, Brachydactyly, Short long bone, Recurrent respiratory infe... OMIM:615633
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Pulmonary a... OMIM:612387
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Terminal Osseous Dysplasia
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Acc... OMIM:300244
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Cerebral hemorrhage, Pleural effusion, Thrombocytopenia, Bradycard... OMIM:617397
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... ORPHA:439232
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
48,Xxxy Syndrome
Small scrotum, Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchi... ORPHA:96263
Wells Syndrome
Eosinophilia ORPHA:901
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... ORPHA:45453
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Pancytopenia, Retinal hemorrhage, Neutrophilia, Hepatomegaly, Tachycardia, Epi... ORPHA:99827
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Pulmonary arterial hypertension, Bronchiectasis ORPHA:1164
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Combined Oxidative Phosphorylation Defect Type 39
Open mouth, Prominent calcaneus, Cryptorchidism, Bradycardia ORPHA:565624
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Pulmonary artery hypoplasia, Prominent fingertip pads, Broad hall... OMIM:300963
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Pulmonary hypoplasia, Short uvula, Micromel... OMIM:614091
Bohring-Opitz Syndrome
Cholelithiasis, Cleft lip, Annular pancreas, Retrognathia, Prominent palatine ridges, Micrognathi... ORPHA:97297
Pfapa Syndrome
Splenomegaly, Abnormal oral cavity morphology, Lymphadenopathy, Recurrent pharyngitis, Hepatomegaly ORPHA:42642
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Tetralogy of Fallot, Fibular aplasia, Micrognathi... ORPHA:3320
Eosinophilic Gastroenteritis
Anemia, Hematochezia, Eosinophilia, Leukocytosis ORPHA:2070
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Narro... OMIM:200990
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Papillary thyroid ... ORPHA:97290
Cirrhotic Cardiomyopathy
Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary artery p... ORPHA:57777
Follicular Lymphoma
Mediastinal lymphadenopathy, Pleural effusion, Splenomegaly, Lymphadenopathy ORPHA:545
Ellis Van Creveld Syndrome
Acute leukemia, Synostosis of carpal bones, Genu valgum, Cryptorchidism, Ventricular septal defec... ORPHA:289
Lymphoproliferative Syndrome, X-Linked, 1
Vasculitis, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B ce... OMIM:308240
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Dental crowding, Upper limb asymmetry, Polydactyly, Clinodactyly of the 5th finger, High palate, ... ORPHA:231140
Split-Hand/Foot Malformation 6
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Sandal gap, Widely spaced te... OMIM:617102
Orofaciodigital Syndrome Type 2
Natal tooth, Finger syndactyly, Short tibia, Velopharyngeal insufficiency, Micrognathia, Broad fi... ORPHA:2751
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Splenomegaly, H... ORPHA:47612
Sheehan Syndrome
Central adrenal insufficiency, Decreased serum estradiol, Breast hypoplasia, Palpitations, Decrea... ORPHA:91355
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Anterior pi... ORPHA:226307
Biemond Syndrome Type 2
Preaxial polydactyly, Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Hypospadias ORPHA:141333
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen... OMIM:619924
Limb-Mammary Syndrome
Bifid uvula, Joint contracture of the hand, Hypodontia, Hypoplastic nipples, Hallux valgus, Split... OMIM:603543
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Situs inversus totalis, Pol... OMIM:615994
Brachydactyly Type B
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... ORPHA:93383
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Hypop... OMIM:252100
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Broad distal phalanx of finger, Postaxial foot polydactyly, Downturned corners of mo... ORPHA:404440
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
49,Xxxxy Syndrome
Small scrotum, Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchi... ORPHA:96264
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Cryptorchidi... OMIM:146510
Congenital Myopathy 22A, Classic
Dental crowding, Tricuspid regurgitation, Micrognathia, Open mouth, Bradycardia, Hip contracture,... OMIM:620351
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100024
Congenital Myopathy 8
Cardiomegaly, High palate, Congestive heart failure OMIM:618654
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Reduced h... ORPHA:79126
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Dental crowding, Sandal gap, Downturned corners of mouth, Long ph... OMIM:615761
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anemia of inadequate production, Anisocytos... OMIM:615631
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Nodular pat... ORPHA:99931
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Hemophagocytosis, Pulmonary hemo... OMIM:619644
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Micrognathia, Malar flattening, Radioulnar synostosis, Pulmonic stenosis, Hypodonti... OMIM:212780
Laryngeal Neuroendocrine Tumor
Increased serum serotonin, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Adreno... ORPHA:100083
Immunodeficiency 54
Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo... OMIM:609981
Endocrine-Cerebroosteodysplasia
Small scrotum, Natal tooth, Thick upper lip vermilion, Fibular bowing, Micrognathia, Cryptorchidi... OMIM:612651
Truncus Arteriosus
Ventricular septal defect, Pulmonary edema, Atrial septal defect, Tachycardia, Aortic regurgitati... ORPHA:3384
Necrotizing Enterocolitis
Hypotension, Abnormal heart morphology, Shock, Leukocytosis, Bradycardia, Thrombocytopenia, Neutr... ORPHA:391673
Adams-Oliver Syndrome 6
Foot oligodactyly, Tricuspid regurgitation, Portal hypertension, Splenomegaly, Ventricular septal... OMIM:616589
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep p... OMIM:605282
Ivic Syndrome
Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ... OMIM:147750
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Ventricular septal defect, Smooth philtrum, Leukemia, Syndactyly OMIM:602501
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Hyperinsulinemia, Splenomegaly, Prolonged QT interval, Bradycardia, Hepatome... OMIM:613327
Abnormal Hair, Joint Laxity, And Developmental Delay
Short fifth metatarsal, Increased carrying angle, Tricuspid regurgitation, Mitral regurgitation, ... OMIM:261990
Orofaciodigital Syndrome V
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Tetralogy of Fallot, Ankyloglossia, Hamartom... OMIM:174300
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Crypto... ORPHA:93322
Caspase 8 Deficiency
Pneumonia, Decreased CD4:CD8 ratio, Splenomegaly, Recurrent sinopulmonary infections, Lymphadenop... OMIM:607271
Ellis-Van Creveld Syndrome
Common atrium, Capitate-hamate fusion, Postaxial foot polydactyly, Natal tooth, Delayed eruption ... OMIM:225500
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Anemia, Ovarian neoplasm, Mediastinal lymphad... ORPHA:83469
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenome... OMIM:618935
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Bronchial Neuroendocrine Tumor
Pneumonia, Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Hypotension, Righ... ORPHA:97287
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leuk... OMIM:612840
Bardet-Biedl Syndrome 22
Hypogonadism, Postaxial foot polydactyly, Polydactyly OMIM:617119
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Intestinal lymphangiectasia, Narrow mouth, Irregular dentition, Pulmonary lymphangiectasia, Campt... OMIM:616006
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, R... ORPHA:363444
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenomegaly, Lymphocytic interstitial pneu... OMIM:618495
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Broad hallux, Cleft upp... OMIM:600987
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Chromosome 3Pter-P25 Deletion Syndrome
Downturned corners of mouth, Long philtrum, Retrognathia, Atrioventricular canal defect, Overlapp... OMIM:613792
19Q13.11 Microdeletion Syndrome
Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Bifid scrotum, S... ORPHA:217346
Orofaciodigital Syndrome Type 10
Short tibia, Fibular aplasia, Micrognathia, Cleft soft palate, Tarsal synostosis, Mesomelic arm s... ORPHA:2756
Mogs-Cdg
Retrognathia, Overlapping fingers, External genital hypoplasia, Hepatosplenomegaly, Pulmonary ede... ORPHA:79330
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Decreased response to growth hormone stimulation t... OMIM:220210
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... OMIM:612098
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Lobulated tongue, M... OMIM:258860
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Recurrent respiratory infections, Cervical ... OMIM:618987
Acrofacial Dysostosis, Catania Type
Abnormality of the dentition, Small hand, Carious teeth, Microretrognathia, Finger syndactyly, Hy... ORPHA:1786
Incontinentia Pigmenti
Conical tooth, Delayed eruption of teeth, Supernumerary nipple, Breast aplasia, Breast hypoplasia... OMIM:308300
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Autoimmune h... OMIM:608184
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pneumonia, Recurrent pneumonia, Type I diabetes mellitus, Pancytopenia, Autoimmune hemolytic anem... OMIM:614700
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Micrognathia, Open mouth, Cryptorchidism, Irregular dentition, Talipes equinovar... OMIM:619148
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Igg4-Related Kidney Disease
Arteritis, Lymphadenitis, Sialadenitis, Interstitial pneumonitis, Chronic sinusitis, Prostatitis,... ORPHA:449395
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Pulmonary hypoplasia, Micromelia, Long philtrum, Ventricular septal defect, Pos... OMIM:617895
H Syndrome
Histiocytosis, Cleft upper lip, Hypogonadism, Decreased testicular size, Azoospermia, Microcytic ... ORPHA:168569
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Intracranial hemorrhage,... ORPHA:3226
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,... OMIM:613320
9Q21.13 Microdeletion Syndrome
Downturned corners of mouth, Abnormal tongue morphology, Abnormal heart morphology, Cryptorchidis... ORPHA:531151
Neuraminidase Deficiency
Cardiomyopathy, Epiphyseal stippling, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lympho... OMIM:256550
Acrootoocular Syndrome
High, narrow palate, Small hypothenar eminence, Dental malocclusion, Short toe, Sandal gap, Short... ORPHA:2980
Acrocardiofacial Syndrome
Toe syndactyly, Finger syndactyly, Cleft upper lip, Camptodactyly of finger, Tetralogy of Fallot,... ORPHA:2008
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Cl... OMIM:619736
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Ventricular septal ... OMIM:615503
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Schnitzler Syndrome
Vasculitis, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:37748
Igg4-Related Ophthalmic Disease
Neoplasm of the lung, Abnormality of the sphenoid sinus, Sialadenitis, Orchitis, Prostatitis, Abn... ORPHA:449563
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Micrognathia, Bradycardia OMIM:614498
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Ventricular septal defect, Syndactyly, C... OMIM:616894
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Clinodactyly, Downturned corners of mouth, Widely spaced teeth, Abnormal h... ORPHA:369891
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... ORPHA:449432
Joubert Syndrome 18
Retrognathia, Trident pelvis, Ventricular septal defect, Bowing of the long bones, Talipes equino... OMIM:614815
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Patent foramen ovale, Chronic sinusitis... OMIM:620642
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
3P25.3 Microdeletion Syndrome
High, narrow palate, Mandibular prognathia, Broad thumb, Broad hallux, Downturned corners of mout... ORPHA:435638
Meckel Syndrome, Type 8
Cleft upper lip, Polydactyly, Talipes equinovarus, Ambiguous genitalia, Pericardial effusion, Enl... OMIM:613885
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Pancytopenia, Hepatosplenomegaly, Splenom... OMIM:615122
Igg4-Related Pachymeningitis
Lymphadenitis, Parotitis, Eosinophilia, Sinusitis, Abnormal lung morphology ORPHA:449427
Poems Syndrome
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Metaphy... ORPHA:2905
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Heme Oxygenase 1 Deficiency
Epistaxis, Diffuse alveolar hemorrhage, Cervical lymphadenopathy, Hypertension, Coombs-positive h... OMIM:614034
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:100025
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Lymphadenopathy, Recurrent upper and lower respiratory tract in... OMIM:605258
Isolated Anencephaly
Cleft lip, Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes ORPHA:563609
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Hand clenching, Open mouth, Ventricular septal defect, Talipes equinovarus, Bradycardia, Retinal ... OMIM:614653
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Gingival bleeding, Recurrent upper respiratory tract infections, ... OMIM:301000
Mitochondrial Complex I Deficiency, Nuclear Type 37
High palate, Pulmonary arterial hypertension, Hypospadias, Bradycardia OMIM:619272
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ... OMIM:268310
Culler-Jones Syndrome
Ectopic posterior pituitary, Cleft upper lip, Hypopituitarism, Hypogonadism, Cryptorchidism, Post... OMIM:615849
Yunis-Varon Syndrome
Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge... ORPHA:3472
Wolfram Syndrome 1
Limited mobility of proximal interphalangeal joint, Cardiomyopathy, Sideroblastic anemia, Hypothy... OMIM:222300
Sepsis In Premature Infants
Hypotension, Leukocytosis, Splenomegaly, Bradycardia, Hepatomegaly, Thrombocytopenia, Neutropenia... ORPHA:90051
Netherton Syndrome
Recurrent respiratory infections, Hypereosinophilia OMIM:256500
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Chylothorax, Micrognathia, Arachnodactyly, Talipes equinovarus OMIM:619036
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Cerebral hemorrhage, Anem... OMIM:618886
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Bone Marrow Failure Syndrome 5
Oral leukoplakia, Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell a... OMIM:618165
Proximal Spinal Muscular Atrophy
Distal upper limb muscle weakness, Elbow flexion contracture, Triceps weakness, Recurrent infecti... ORPHA:70
Tetanus
Tachycardia, Hypertension, Trismus, Bradycardia ORPHA:3299
Leishmaniasis
Abnormal oral mucosa morphology, Leukopenia, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Hypoplastic left heart, Broad thumb, Prominent fingertip pads, Long philtrum, Genu valgum, Arachn... OMIM:619721
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Hamartoma of tongue, 2-3 finger syndactyly, Subvalvular aortic stenosis, Cryptorchidism ORPHA:1338
Distal Duplication 5Q
Carious teeth, Absent thumb, Long philtrum, Micrognathia, Narrow mouth, Cryptorchidism, Ventricul... ORPHA:96097
Proteus-Like Syndrome
Thymus hyperplasia, Bronchogenic cyst, Abnormality of the parathyroid gland, Open bite, Splenomeg... ORPHA:2969
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Hypertension, Short palm, Syndactyly ORPHA:79094
Proximal Symphalangism
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... ORPHA:3250
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Abnormal metacarpal mo... ORPHA:1452
Legionnaires Disease
Bone marrow hypocellularity, Hypotension, Lymphopenia, Abnormal pleura morphology, Splenomegaly, ... ORPHA:549
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Retinitis Pigmentosa 89
Postaxial polydactyly, Bicuspid aortic valve, Hepatosplenomegaly OMIM:618955
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial ... ORPHA:1106
Robinow Syndrome
Small scrotum, Tooth malposition, Ankyloglossia, Micrognathia, Marked delay in eruption of perman... ORPHA:97360
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Abnormal heart morphology, Azoospermia, Narrow palm, Amenorrhea, Infert... ORPHA:1445
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... ORPHA:90652
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Meckel Syndrome 14
Pulmonary hypoplasia, Postaxial foot polydactyly, Microretrognathia, Retrognathia, Tricuspid regu... OMIM:619879
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Micrognathia, Ventricular septal de... OMIM:620663
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Premature ventricular contraction, Syncope, Tachycardia, Posteriorly...