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Gene: Tyro3 MGI:104294

Gene Summary

Name:

TYRO3 protein tyrosine kinase 3

Synonyms:

Sky, Dtk, Tif, Etk-2, Rse, Brt

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased eosinophil cell number	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	4.27×10^-05
abnormal thymus morphology	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged thymus	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small testis	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal lung morphology	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased heart rate	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	6.78×10^-05
abnormal eye morphology	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal skin morphology	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal lymph node morphology	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal heart morphology	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
polysyndactyly	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	6.61×10^-17
abnormal digit morphology	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	4.91×10^-05
enlarged heart	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal testis morphology	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal tooth morphology	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

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X-ray

XRay Images Hind Leg and Hip

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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.

Human diseases associated with Tyro3 (0 diseases)
Human diseases predicted to be associated with Tyro3 (925 diseases)

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	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...	OMIM:192445
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Recurre...	OMIM:301078
Orofaciodigital Syndrome Type 6	Midline notch of upper alveolar ridge, Lobulated tongue, Finger clinodactyly, Preaxial polydactyl...	ORPHA:2754
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Broad thumb, Op...	ORPHA:1507
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Foot polydactyly, High palate, Short foot, Syndactyly, High, narrow p...	OMIM:209900
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Small scrotum, Abnormality of the dentition, Toe syndactyly, Carious teeth, Finger syndactyly, Hy...	ORPHA:3253
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Hypochromic microcytic anemia, Pleural thickening, Recurrent lower respiratory t...	OMIM:619632
Polydactyly, Preaxial Iii	Triphalangeal thumb, Preaxial polydactyly	OMIM:174600
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami...	OMIM:308700
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Progressive alveolar ridge hypertropy,...	OMIM:252500
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Genu valgum, Micrognathia, Narrow mouth, Mitral valve prolapse, Talipes equi...	OMIM:245600
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Myotonic Dystrophy 1	Cholelithiasis, Atrial flutter, Hypogonadism, First degree atrioventricular block, Testicular atr...	OMIM:160900
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro...	ORPHA:1677
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar...	ORPHA:363705
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Recurrent aphthous stomatitis, Leukocytosis, Lymphadenopathy	OMIM:611762
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,...	OMIM:603903
Lujo Hemorrhagic Fever	Hypotension, Atelectasis, Shock, Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia, Bradyca...	ORPHA:319213
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Micrope...	OMIM:613870
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Clinodactyly, B lymphocytopenia, Lymphadenopathy, Brachyd...	OMIM:618048
Silver-Russell Syndrome 3	Small hand, Retrognathia, Clinodactyly of the 5th finger, Ambiguous genitalia, Penoscrotal hyposp...	OMIM:616489
Pulmonary Non-Tuberculous Mycobacterial Infection	Pleural effusion, Pneumothorax, Lymphadenopathy, Pericardial effusion, Bronchiectasis	ORPHA:411703
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Polydactyly, Postaxial hand polydactyly, Hepatomegaly, Bile duct prol...	OMIM:607361
Cantú Syndrome	Short distal phalanx of finger, Finger syndactyly, Long philtrum, Hypertrophic cardiomyopathy, Ab...	ORPHA:1517
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Postaxial foot polydactyly, Postaxial polysyndactyly of foot, T...	ORPHA:2919
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus...	ORPHA:93323
Silver-Russell Syndrome 1	Downturned corners of mouth, Decreased response to growth hormone stimulation test, Micrognathia,...	OMIM:180860
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
Double Outlet Left Ventricle	Cryptorchidism, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulm...	ORPHA:3427
Mucopolysaccharidosis, Type Iiib	Recurrent upper respiratory tract infections, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetri...	OMIM:252920
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Micrognathia, Bicuspid aortic valve, C...	ORPHA:1772
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Dental crowding, Sandal gap, Downturned corners of mouth, Cryptorchidism, Ventricu...	OMIM:617602
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Postaxial foot polydactyly, Finger syndactyly, Hydrometrocolpos, Glandula...	ORPHA:2473
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Abnormal palate morpho...	ORPHA:100026
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Bardet-Biedl Syndrome 9	Irregular menstruation, Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydac...	OMIM:615986
Double Outlet Right Ventricle	Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Narrow mouth, Hear...	ORPHA:3426
Ogden Syndrome	Everted upper lip vermilion, Thick upper lip vermilion, Torsade de pointes, Micrognathia, Cryptor...	OMIM:300855
Orofaciodigital Syndrome I	Carious teeth, Clinodactyly, Ankyloglossia, Ovarian cyst, High palate, Syndactyly, Abnormal heart...	OMIM:311200
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Thin metatarsal cortices, Small hypothenar eminence, Thin metacarpal cortices, Slender long bone,...	ORPHA:2463
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Hypogonadism, Congestive heart failu...	ORPHA:85450
Developmental And Epileptic Encephalopathy 95	Short distal phalanx of finger, Macroglossia, Short fourth metatarsal, Widely spaced teeth, Gingi...	OMIM:618143
Wiskott-Aldrich Syndrome	Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia...	ORPHA:906
Synpolydactyly 2	Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Hennekam Syndrome	Abnormal oral mucosa morphology, Chylothorax, Finger syndactyly, Delayed eruption of teeth, Campt...	ORPHA:2136
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Autosomal Dominant Popliteal Pterygium Syndrome	Small scrotum, Toe syndactyly, Fibrous syngnathia, Finger syndactyly, Bifid scrotum, Lip pit, Mic...	ORPHA:1300
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Pulmonary arterial hypertension, Brachydactyly...	OMIM:616028
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Joubert Syndrome 33	Splenomegaly, Syndactyly	OMIM:617767
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Tricuspid regurgitation, External genital hypoplasia, Brachydactyly	OMIM:600151
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Talipes equinovarus, Cone-shaped epiphysis, Hamartoma of tongue, Femoral bowing, Fibular hypoplas...	OMIM:613091
Camptobrachydactyly	Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Septate va...	ORPHA:1319
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypogonadotropic hypogona...	OMIM:308750
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph node enlargement, Tricuspid ...	OMIM:620233
Congenital Sialidosis Type 2	Abnormal EKG, Abnormal heart morphology, Hepatosplenomegaly, Gingival overgrowth, Respiratory tra...	ORPHA:93400
D-Glyceric Aciduria	Micropenis, Single transverse palmar crease, Bradycardia	OMIM:220120
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Congenital hypothyroidism	ORPHA:88643
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukoc...	ORPHA:98850
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal...	ORPHA:166119
Neuroendocrine Tumor Of The Colon	Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Hypotension, Right ventricul...	ORPHA:100080
Otodental Syndrome	Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo...	ORPHA:2791
American Trypanosomiasis	Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Lymphadenopathy, Myocarditis,...	ORPHA:3386
Absence Of The Pulmonary Artery	Recurrent pneumonia, Atrial flutter, Congestive heart failure, Abnormal heart morphology, Tetralo...	ORPHA:980
Glycogen Storage Disease Ii	Sinus tachycardia, Pleural effusion, Splenomegaly, Shortened PR interval, Cardiomegaly, Subarachn...	OMIM:232300
Viss Syndrome	Genu valgum, Cleft soft palate, Micrognathia, Mitral valve prolapse, Contracture of the proximal ...	OMIM:619472
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction	ORPHA:481
Acute Promyelocytic Leukemia	Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Pancytopenia, Leukopenia, Leukocytosis...	ORPHA:520
Iga Pemphigus	Eosinophilia, Cutaneous abscess, Oral mucosal blisters	ORPHA:555905
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Splenomegaly, Amelogenesis imperfecta, Lymphadenopathy, Thrombocytopenia, Hypocalcific...	ORPHA:169090
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Hypospadias, Clinodactyly, Cardiomyopathy, Downturned corners of mouth, Micrognathia, Cryptorchid...	OMIM:217980
Sézary Syndrome	Palmoplantar keratoderma, Abnormal lymphocyte morphology, Abnormal pleura morphology, Splenomegal...	ORPHA:3162
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Clinodactyly, Genu valgum, Malar flattening, Polydactyly, Triangular mouth,...	OMIM:607131
Laurence-Moon Syndrome	Micropenis, Small scrotum, Abnormality of the hand, Polydactyly	OMIM:245800
Immune Dysregulation, Autoimmunity, And Autoinflammation	Gingival bleeding, Epistaxis, Cervical lymphadenopathy, Anemia, Inguinal lymphadenopathy	OMIM:620514
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect	OMIM:619170
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory oral frenulum...	OMIM:277170
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi...	OMIM:617297
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Cryptorchidism, Flat acetabular roof, Cleft lip, Hamartoma of tongue, F...	OMIM:616300
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Delayed eruption of teeth, Abnormal heart morphology, Thick upper ...	OMIM:247200
Illum Syndrome	Whistling appearance, Bradycardia, Pierre-Robin sequence	OMIM:208155
Systemic-Onset Juvenile Idiopathic Arthritis	Pleural effusion, Splenomegaly, Lymphadenopathy, Hepatomegaly, Pericarditis	ORPHA:85414
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Premature adrenarche, Precocious puberty, High, narrow palate, Dental crowding, Clinodactyly, Dow...	ORPHA:96182
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Bradycardia, Smooth philtrum, Pulmonary arterial hypertension, Megaloblastic anemia,...	OMIM:277400
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Orofaciodigital Syndrome Xix	Narrow palate, Toe syndactyly, Postaxial foot polydactyly, Broad hallux, Carious teeth, Type A br...	OMIM:620107
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Retrognathia, Emphysema, Tricuspid regurg...	OMIM:614437
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Cardiomegaly, Arrhythmia, Short fourth metatarsal	OMIM:266500
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Pneumonia, Recurrent upper respiratory tract infections, Type I diabetes mellitus, Pure red cell ...	ORPHA:436159
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Septooptic Dysplasia	Short finger, Decreased response to growth hormone stimulation test, Polydactyly, Anterior pituit...	OMIM:182230
Igg4-Related Aortitis	Hypereosinophilia	ORPHA:449400
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Oral leukoplakia, Pancytopenia, Thrombocytopenia, Testicular atrophy	OMIM:613987
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Extramedullary hematopoiesis, Tet...	ORPHA:2886
Joubert Syndrome 37	Decreased testicular size, Cryptorchidism, Postaxial polydactyly, Hepatomegaly, Micropenis, High ...	OMIM:619185
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Adult-Onset Still Disease	Bone marrow hypocellularity, Interstitial pneumonitis, Leukocytosis, Splenomegaly, Hepatomegaly, ...	ORPHA:829
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Widely spaced teeth, Cryptorchidism, Microdontia, Abnormal palmar dermatoglyphics,...	ORPHA:2728
Ring Chromosome 12 Syndrome	High, narrow palate, Symphalangism of the thumb, Secundum atrial septal defect, Clinodactyly, Gla...	ORPHA:1439
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Sma...	OMIM:257850
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Hypotension, Subconjunctival hemorrhage, Shock, Lymphopeni...	ORPHA:99826
ERI1-related disease	Velopharyngeal insufficiency, Slender metacarpals, Oligodactyly, Abnormal heart morphology, Clino...	OMIM:608739
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hypoplastic scapulae, Finger syndactyly, Micrognathia, Single ventricle, 2-5 finger syndactyly, T...	OMIM:308050
Rabson-Mendenhall Syndrome	Clitoral hypertrophy, Insulin-resistant diabetes mellitus, Ventricular septal defect, Atrial sept...	ORPHA:769
Cinca Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Brachydactyly, Lymphadenopathy, Anemia, Abnormality of ...	ORPHA:1451
Meckel Syndrome, Type 10	Bifid uvula, Postaxial foot polydactyly, Postaxial polydactyly, Micropenis, Ulnar deviation of th...	OMIM:614175
Carcinoid Syndrome	Increased serum serotonin, Right ventricular failure, Tricuspid regurgitation, Palpitations, Chro...	ORPHA:100093
Oslam Syndrome	Carious teeth, Increased mean corpuscular volume, Radioulnar synostosis, Clinodactyly of the 5th ...	ORPHA:2760
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Glandular hypospadias, Tricuspid regurgitation, Cardiomegaly, Talipes equinovarus, P...	OMIM:620306
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve...	OMIM:306955
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Bifid uvula, Hypoplasia of the maxilla, Carious teeth, Palmoplantar...	OMIM:129400
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Extramedullary hematopoiesis, Hep...	OMIM:259710
Mixed Connective Tissue Disease	Mediastinal lymphadenopathy, Gastrointestinal hemorrhage, Leukopenia, Pleuritis, Splenomegaly, Pu...	ORPHA:809
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Absence of lymph node germinal center, Recurrent respirat...	ORPHA:79124
Glossopharyngeal Neuralgia	Abnormal palate morphology, Syncope, Bradycardia, Jaw claudication, Mandibular pain	ORPHA:221098
Neuroleptic Malignant Syndrome	Hypertensive crisis, Hypotension, Pulmonary embolism, Aspiration pneumonia, Leukocytosis, Bradyca...	ORPHA:94093
Hoxha-Aliu Syndrome	Overlapping toe, Absent fifth metatarsal, Atrial septal defect, High palate, Short distal phalanx...	OMIM:620662
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly	ORPHA:79477
Immunodeficiency 10	Recurrent pneumonia, Splenomegaly, Autoimmune hemolytic anemia, Amelogenesis imperfecta, Abnormal...	OMIM:612783
Apert Syndrome	Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Cuta...	OMIM:101200
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Open mouth, Cryptorchidism, Narrow mouth, Ventricular septal defe...	OMIM:300967
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Fish-Eye Disease	Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenopathy	ORPHA:79292
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Hepatosplenomegal...	OMIM:606367
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan...	ORPHA:69087
Neuroendocrine Tumor Of The Rectum	Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Hematochezia, Hypotension, R...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Hematochezia, Hypotension, R...	ORPHA:100082
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Recurrent upper respiratory tract infections, Lymphopenia, Autoimmune hemolytic anemia, Splenomeg...	OMIM:616100
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus, Syndactyly	OMIM:215850
Kikuchi-Fujimoto Disease	Vasculitis, Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of ...	ORPHA:50918
Rubinstein-Taybi Syndrome 1	Broad thumb, Hypoplastic iliac wing, Micrognathia, Narrow mouth, Cryptorchidism, Mitral valve pro...	OMIM:180849
Shwachman-Diamond Syndrome	Carious teeth, Aplastic anemia, Hypopituitarism, Pancytopenia, Oral ulcer, Impaired neutrophil ch...	ORPHA:811
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i...	OMIM:204700
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Cryptorchidism, Syndactyly	ORPHA:404451
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Shallow acetabular fossae, Carious teeth, Hypo...	OMIM:182250
Hypocomplementemic Urticarial Vasculitis	Emphysema, Abnormal heart valve morphology, Pleural effusion, Splenomegaly, Lymphadenopathy, Hepa...	ORPHA:36412
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai...	ORPHA:1478
Boutonneuse Fever	Vasculitis, Abnormal skin morphology of the palm, Cervical lymphadenopathy, Leukopenia, Lymphaden...	ORPHA:83313
Medullary Thyroid Carcinoma	Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Lym...	ORPHA:1332
Conotruncal Heart Malformations	Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ...	OMIM:217095
Senior-Loken Syndrome 9	Hypogonadism, Polydactyly, Chronic bronchitis, Hypoplasia of the femoral head	OMIM:616629
Proteasome-Associated Autoinflammatory Syndrome 1	Hypoplastic scapulae, Finger swelling, Microcytic anemia, Arrhythmia, Flexion contracture of fing...	OMIM:256040
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Cryptorchidism, Talipes equinovarus, Everted lower lip vermilion, Finger joint hypermobility, Hig...	OMIM:620371
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal...	OMIM:606895
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Hip dislocation, Shallow acetabular fossae, Aplastic anemia, Radial bowing, Ulnar bowing, Limited...	OMIM:605432
Proteus Syndrome	Pulmonary cyst, Carious teeth, Finger syndactyly, Open mouth, Abnormal metacarpal morphology, Pul...	ORPHA:744
Pfeiffer Syndrome	Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin...	OMIM:101600
Acrofrontofacionasal Dysostosis 2	Broad thumb, Broad hallux, Bifid scrotum, Hand polydactyly, Shawl scrotum, High palate, Hypospadi...	OMIM:239710
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis...	OMIM:212140
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Recurrent...	OMIM:257200
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis, Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Tented upper lip vermilion, Polydactyly, Thin upper lip vermilio...	ORPHA:313781
Congenital Disorder Of Glycosylation, Type It	Bifid uvula, Aborted sudden cardiac death, Dilated cardiomyopathy, Micrognathia, Ventricular sept...	OMIM:614921
Bardet-Biedl Syndrome 6	External genital hypoplasia, Postaxial polydactyly, Diabetes mellitus, Vaginal atresia, Hypospadi...	OMIM:605231
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Short iliac bones, Lymphopenia, Metaphyseal sclerosis, Recurrent sinusitis, T lymphocy...	OMIM:607944
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Enamel hypoplasia, Syndactyly	OMIM:226700
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Pneumonia, Abnormal oral mucosa morphology, Dilated cardiomyopathy...	ORPHA:79404
Helsmoortel-Van Der Aa Syndrome	Small hand, Carious teeth, Ankyloglossia, Genu valgum, Cryptorchidism, Mitral valve prolapse, Mit...	OMIM:615873
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Carious teeth, Hypoplastic iliac wing, Genu valgum, Mitral regurgitation, H...	OMIM:253200
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Conical tooth, Hypopituitarism, Absent peripheral lymph nodes in presence of infection, Recurrent...	ORPHA:98813
Congenital Syphilis	Pneumonia, Extramedullary hematopoiesis, Hyperplasia of the maxilla, Hepatosplenomegaly, Mulberry...	ORPHA:499009
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig...	OMIM:609040
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Recurrent pneumonia, Thick vermilion border	ORPHA:3137
Anaplastic Thyroid Carcinoma	Goiter, Lymphadenopathy, Nodular goiter, Anaplastic thyroid carcinoma, Neoplasm of the lung	ORPHA:142
Graft Versus Host Disease	Pneumonia, Hemophagocytosis, Hepatosplenomegaly, Dupuytren contracture, Oral ulcer, Limited elbow...	ORPHA:39812
Carpenter Syndrome 2	Broad thumb, Carious teeth, Supernumerary nipple, Cutaneous finger syndactyly, Cryptorchidism, Ta...	OMIM:614976
Pseudoaminopterin Syndrome	Synostosis of carpal bones, Overlapping toe, Micrognathia, Cryptorchidism, Limited elbow movement...	ORPHA:221120
Congenital Disorder Of Glycosylation, Type Iil	Retrognathia, Pancytopenia, Splenomegaly, Ventricular septal defect, Postaxial polydactyly, Ename...	OMIM:614576
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Microglossia, Camptodactyly of finger, Micrognathia, Me...	ORPHA:2839
Prader-Willi Syndrome	Small scrotum, Small hand, Carious teeth, Clinodactyly, Hyperinsulinemia, Genu valgum, Type II di...	OMIM:176270
Pallister-Hall Syndrome	Small scrotum, Broad thumb, Toe syndactyly, Radial bowing, Natal tooth, Hydrometrocolpos, Polydac...	ORPHA:672
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Hypophosphatemic Rickets, Autosomal Recessive, 2	Carious teeth, Genu valgum, Coxa valga, Hypoplasia of teeth, Genu varum, Pulmonic stenosis	OMIM:613312
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Velopharyngeal insufficiency, Long philtrum, Tetralogy of Fallot, Single transverse palmar crease...	OMIM:614701
Camptobrachydactyly	Short toe, Septate vagina, Hand polydactyly, Brachydactyly, Congenital finger flexion contracture...	OMIM:114150
Gaucher Disease, Perinatal Lethal	Everted upper lip vermilion, Retrognathia, Hepatosplenomegaly, Micrognathia, Open mouth, Splenome...	OMIM:608013
Rhabdoid Tumor	Internal hemorrhage, Lymphadenopathy, Thrombocytopenia, Anemia, Hypertension	ORPHA:69077
Camurati-Engelmann Disease	Carious teeth, Abnormal tibia morphology, Genu valgum, Metaphyseal dysplasia, Abnormal morphology...	ORPHA:1328
Thymic Neuroendocrine Tumor	Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increa...	ORPHA:97289
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Conical tooth, Short thumb, Cleft upper lip, Supernumerary nipple, Mi...	OMIM:263750
Meckel Syndrome, Type 1	Postaxial foot polydactyly, Natal tooth, Clinodactyly, Micrognathia, Cryptorchidism, Bowing of th...	OMIM:249000
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Lymphopenia, Pancytopenia, Micrognathia, Open mouth, Ventricular septal ...	OMIM:620654
Stolerman Neurodevelopmental Syndrome	Bifid uvula, Abnormality of the dentition, Mandibular prognathia, Cryptorchidism, Hypoplastic nip...	OMIM:618505
Tarp Syndrome	Clinodactyly, Subdural hemorrhage, Tetralogy of Fallot, Micrognathia, Single transverse palmar cr...	OMIM:311900
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Neuroendocrine Tumor Of Stomach	Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic sho...	ORPHA:100075
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly	ORPHA:391
Roberts Syndrome	Clitoral hypertrophy, Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplas...	ORPHA:3103
Q Fever	Pneumonia, Vasculitis, Granuloma, Abnormal heart valve morphology, Hepatosplenomegaly, Pleural ef...	ORPHA:781
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm...	OMIM:619051
Cranioectodermal Dysplasia 2	Clinodactyly, Micrognathia, Atrial septal defect, Everted lower lip vermilion, Hepatomegaly, High...	OMIM:613610
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ...	OMIM:218700
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Rothmund-Thomson Syndrome Type 1	Carious teeth, Aplastic anemia, Patellar aplasia, Cryptorchidism, Telangiectasia, Neutropenia, Le...	ORPHA:221008
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi...	ORPHA:555874
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Aspiration pneumonia, Abnormal heart morphology, Micrognathia, Tented upper ...	ORPHA:314655
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Cleft lip, Natal tooth, Short tibia, Uterus didelphys, Preaxial polydactyly, Tetralogy of Fallot,...	OMIM:617925
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Hypospadi...	OMIM:305450
Tafro Syndrome	Hepatosplenomegaly, Pleural effusion, Splenomegaly, Leukocytosis, Hepatomegaly, Lymphadenopathy, ...	ORPHA:457077
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Carney Triad	Gastrointestinal hemorrhage, Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Hype...	ORPHA:139411
Mosaic Trisomy 16	Hypospadias, Short forearm, Pulmonary hypoplasia, Craniofacial asymmetry, Short thumb, Clinodacty...	ORPHA:1708
Nephronophthisis 15	Polydactyly	OMIM:614845
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Tapered toe, Dilated cardiomyopathy, Elbow flexion contracture, Antenatal intracer...	OMIM:608836
Selective Igm Deficiency	Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Decreased propo...	ORPHA:331235
Beck-Fahrner Syndrome	Long philtrum, Open mouth, Ventricular septal defect, Cardiomegaly, Hip dysplasia, High palate	OMIM:618798
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Ta...	OMIM:609638
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Vasculitis, Leukocytosis, Splenomegaly, Orchitis, Abnormal sacroiliac joint morphology, Abnormal ...	ORPHA:32960
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Hepatomegaly, Endocarditis, Epididymitis, Granulo...	ORPHA:1304
Common Variable Immunodeficiency	Pneumonia, Vasculitis, Emphysema, Lymphopenia, Recurrent bronchitis, Splenomegaly, Lymphadenopath...	ORPHA:1572
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Hydrometrocolpos, Atrioventricular canal defect, Splenomegaly, Postaxial p...	OMIM:617088
Multiple Pterygium Syndrome, Escobar Variant	Micrognathia, Narrow mouth, Patellar aplasia, Cryptorchidism, Arachnodactyly, Talipes equinovarus...	OMIM:265000
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Splenomegaly, Oral ulcer, Gingivitis, Enlarged tonsils, Ne...	OMIM:308230
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Abnormality of the spleen, Lymphocytosis, Lymphadenopat...	ORPHA:79456
Proteasome-Associated Autoinflammatory Syndrome 3	Finger swelling, Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Sinu...	OMIM:617591
Joubert Syndrome 15	Micropenis, Ambiguous genitalia, Preaxial polydactyly	OMIM:614464
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Mucopolysaccharidosis Type 3	Abnormality of the dentition, Craniofacial hyperostosis, Atrioventricular block, Recurrent tonsil...	ORPHA:581
Bardet-Biedl Syndrome 20	Male hypogonadism, Bilateral cryptorchidism, Preaxial foot polydactyly, 2-3 toe syndactyly, Posta...	OMIM:619471
Pycnodysostosis	Aplastic clavicle, Narrow palate, Carious teeth, Persistence of primary teeth, Micrognathia, Dela...	OMIM:265800
Waldenström Macroglobulinemia	Normocytic anemia, Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congest...	ORPHA:33226
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Hypoplastic scapulae, Short 5th toe, Ventricular sept...	OMIM:181450
Laurin-Sandrow Syndrome	Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup...	OMIM:135750
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Mediastinal lymphadenopathy, Abnormal salivary gland morphology, Emphys...	OMIM:181000
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hypertrophic cardiomyopathy, Heart murmur, Respiratory tract infection, Shortened PR interval, Ca...	ORPHA:308552
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Increased circulating cortisol level, Abnormal lymph node morphology, ...	ORPHA:99889
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P...	ORPHA:1686
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Micromelia, Broad hallux, Hypoplasia of the zygomatic bone, Long philtrum, Single tra...	OMIM:614800
Legius Syndrome	Acute monocytic leukemia, Male urethral meatus stenosis, Mitral valve prolapse, Polydactyly, Paro...	ORPHA:137605
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Gingivitis,...	OMIM:214500
Griscelli Syndrome	Bone marrow hypocellularity, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatom...	ORPHA:381
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Pulmonary cyst, Recurrent pneumonia, Recurrent upper respiratory tract infections, Cutaneous absc...	OMIM:147060
Thyroid Lymphoma	Goiter, Hashimoto thyroiditis, Hypothyroidism, Lymphadenopathy, Hyperthyroidism	ORPHA:97285
Specc1L-Related Hypertelorism Syndrome	Short toe, Finger syndactyly, Long philtrum, Tetralogy of Fallot, Female pseudohermaphroditism, C...	ORPHA:1519
Mend Syndrome	Aortic valve stenosis, Microretrognathia, Broad hallux, Overlapping toe, Overlapping fingers, Mic...	OMIM:300960
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Lymphopenia, Pancytopenia, Hepatosplenomegaly, Oral ulcer, Hepatomegaly, Vasculitis, Recurrent si...	OMIM:615688
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Small hand, Abnormality of the dentition, Long philtrum, Abnormality of thyroid phys...	OMIM:300968
Nephroblastoma	Hypertension, Lymphadenopathy, Neoplasm of the lung	ORPHA:654
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Abnormal EKG, Reduced...	ORPHA:268
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Decreased circulating cortisol level, Cardiomegaly	OMIM:618838
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Retrognathia, Labial hypertroph...	ORPHA:96191
Bloom Syndrome	Facial telangiectasia in butterfly midface distribution, Recurrent upper respiratory tract infect...	OMIM:210900
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia, Ventricular septal defect	OMIM:126320
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Cryptorchidism, Limited elbow movement, Ve...	OMIM:134780
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Dental malocclusion, Wide mouth, Cryptorchidism, High palate, Down-sloping shoulde...	OMIM:227330
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept...	OMIM:620609
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Pleural effusion, Oral ulcer, Lymphad...	ORPHA:93552
Meckel Syndrome, Type 2	Polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Bile duct proliferation, Cleft...	OMIM:603194
Scrub Typhus	Myocarditis, Splenomegaly, Hypotension, Lymphadenopathy	ORPHA:83317
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	ORPHA:42
Sandhoff Disease	Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension, Hepatomegaly, Macroglossia, Impotence	OMIM:268800
Familial Thoracic Aortic Aneurysm And Aortic Dissection	High, narrow palate, Aortic regurgitation, Retrognathia, Transient ischemic attack, Ischemic stro...	ORPHA:91387
Autosomal Recessive Malignant Osteopetrosis	Abnormal epiphysis morphology, Delayed eruption of teeth, Premature loss of primary teeth, Abnorm...	ORPHA:667
3Mc Syndrome 3	Clinodactyly, Bifid scrotum, Preaxial polydactyly, Cleft upper lip, Cryptorchidism, Radioulnar sy...	OMIM:248340
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Ventricular ...	OMIM:312870
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Abnormality of the Leydig cells, Dental crowding, Thick lower lip vermilio...	ORPHA:3063
Eec Syndrome	Hypospadias, Toe syndactyly, Carious teeth, Finger syndactyly, Ectrodactyly, Tooth agenesis, Decr...	ORPHA:1896
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Palmoplantar keratoderma, Finger syndactyly, Delayed eruption of teeth, Supernumer...	ORPHA:1071
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Atelectasis, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Anisocyt...	OMIM:618278
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Preaxial polydactyly, Micrognathia, Ulnar bowing, Single transverse pa...	OMIM:617866
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Abnormality of the uterus, Narrow mouth, Polydactyly, Short...	ORPHA:59315
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n...	OMIM:613426
Farber Disease	Recurrent upper respiratory tract infections, Short toe, Atelectasis, Short finger, Abnormality o...	ORPHA:333
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Hepatomegaly, Cardiac...	OMIM:617713
Chromosome 8Q21.11 Deletion Syndrome	Downturned corners of mouth, Micrognathia, Cryptorchidism, Exaggerated cupid's bow, Short philtru...	OMIM:614230
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Joubert Syndrome 27	Thick lower lip vermilion, Polydactyly	OMIM:617120
Cranioectodermal Dysplasia 3	Rhizomelia, 2-4 toe syndactyly, Peripheral pulmonary artery stenosis, Sandal gap, Widely spaced t...	OMIM:614099
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Broad thumb, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, Ven...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Broad thumb, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, Ven...	ORPHA:353277
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Ventricular septal defect, Duplication of phalanx of hallux, Atrial se...	OMIM:263630
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, High palate, Syndactyly	OMIM:614520
Cushing Disease	Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor...	ORPHA:96253
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Dilated cardiomyopathy, Lymphadenitis, Cardiomyopathy, Congestive heart failure, Le...	OMIM:615895
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia	OMIM:616812
Diaphragmatic Hernia 4, With Cardiovascular Defects	Pulmonary artery hypoplasia, Finger syndactyly, Micrognathia, Cryptorchidism, Ventricular septal ...	OMIM:620025
Degcags Syndrome	Toe syndactyly, Hepatosplenomegaly, Genu valgum, Pancytopenia, Cryptorchidism, Micrognathia, Vent...	OMIM:619488
Squamous Cell Carcinoma Of The Anal Canal	Intestinal bleeding, Lymphadenopathy, Neoplasm of the lung	ORPHA:424019
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Short 5th toe, Cleft soft palate, Cryptorchidism, Ventricular septal defec...	ORPHA:268261
Alstrom Syndrome	Irregular menstruation, Abnormality of the dentition, Recurrent pneumonia, Dilated cardiomyopathy...	OMIM:203800
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Telangiectasia, Raynaud phenomenon, Thrombocytos...	OMIM:615934
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the temporomandibular joint, Abnormal shoulder morphology, Abnormal hip joint morp...	ORPHA:85408
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, Lymphade...	ORPHA:83471
Lenz-Majewski Hyperostotic Dwarfism	Abnormality of the dentition, Mandibular prognathia, Microglossia, Flared metaphysis, Aplasia/Hyp...	OMIM:151050
Familial Mediterranean Fever	Vasculitis, Oral leukoplakia, Leukocytosis, Splenomegaly, Orchitis, Arrhythmia, Lymphadenopathy, ...	ORPHA:342
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Abnormal morphology of female internal gen...	ORPHA:538
Yellow Fever	Pancreatic hyperplasia, Shock, Reduced left ventricular ejection fraction, Leukocytosis, Bradycar...	ORPHA:99829
Ileal Neuroendocrine Tumor	Increased serum serotonin, Hypotension, Cardiogenic shock, Right ventricular failure, Arterial oc...	ORPHA:100078
Cerebrofacioarticular Syndrome	Hypoplasia of the maxilla, Caudal appendage, Abnormal heart morphology, Absence of pubertal devel...	ORPHA:314679
Teebi-Shaltout Syndrome	Aortic valve stenosis, High, narrow palate, Caudal appendage, Prominent palatine ridges, Narrow m...	OMIM:272950
Limb-Mammary Syndrome	Bifid uvula, Toe syndactyly, Absent nipple, Cleft lip, Oligodactyly, Breast aplasia, Cleft hard p...	ORPHA:69085
Fucosidosis	Macroglossia, Absent/hypoplastic paranasal sinuses, Thick lower lip vermilion, Splenomegaly, Card...	OMIM:230000
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor...	ORPHA:1457
Castleman Disease	Restrictive cardiomyopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy,...	ORPHA:160
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Cleft upper lip, Cardiac rhabdomyoma, Ovarian car...	OMIM:109400
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Hydrometrocolpos, Hypogonadism, Polydactyly, Postaxial hand polydacty...	OMIM:615989
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Hepatomega...	OMIM:201475
Macrophage Activation Syndrome	Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Ane...	ORPHA:158061
Kaposi Sarcoma	Abnormal lung morphology, Abnormality of the spleen, Generalized lymphadenopathy	ORPHA:33276
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Hydrometrocolpos, Mesoaxial hand polydactyly, Transverse vaginal sept...	OMIM:236700
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Hypoplastic labi...	OMIM:263650
Kbg Syndrome	Radial deviation of finger, Long philtrum, Ulnar deviation of the 2nd finger, Macrodontia, Tented...	OMIM:148050
Chédiak-Higashi Syndrome	Gingival bleeding, Epistaxis, Abnormality of neutrophil physiology, Periodontitis, Hemophagocytos...	ORPHA:167
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd...	ORPHA:1112
Behçet Disease	Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Recurrent apht...	ORPHA:117
Kawasaki Disease	Vasculitis, Strawberry tongue, Double outlet right ventricle with subpulmonary ventricular septal...	ORPHA:2331
Adnp Syndrome	Recurrent upper respiratory tract infections, Broad thumb, Sandal gap, Broad hallux, Thick lower ...	ORPHA:404448
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em...	ORPHA:95430
Williams Syndrome	Carious teeth, Open bite, Genu valgum, Type II diabetes mellitus, Cryptorchidism, Mitral valve pr...	ORPHA:904
Cherubism	Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin...	OMIM:118400
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Au-Kline Syndrome	Bifid uvula, Dental malocclusion, Downturned corners of mouth, Retrognathia, Supernumerary nipple...	OMIM:616580
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Lymphadenopathy, Hepatome...	ORPHA:343
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Anterior pituitary agenesis, Hypotension, Ectopic anterior pituitary...	ORPHA:95494
Amyloidosis, Hereditary Systemic 1	Cardiomyopathy, Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Cardiomega...	OMIM:105210
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L...	ORPHA:514
Autoinflammatory Disease, Systemic, With Vasculitis	Parotitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Oral ulcer, Increased T cell count, He...	OMIM:620376
Joubert Syndrome 23	Polydactyly	OMIM:616490
Floating-Harbor Syndrome	Broad thumb, Carious teeth, Cryptorchidism, Atrial septal defect, Broad fingertip, Dislocated rad...	OMIM:136140
Granulomatous Disease, Chronic, X-Linked	Recurrent pneumonia, Lymphadenitis, Granuloma, Atelectasis, Impaired oxidative burst, Pleural eff...	OMIM:306400
Lacrimoauriculodentodigital Syndrome	Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Micrognathia, Cryptorchidism, Syn...	ORPHA:2363
Primary Hepatic Neuroendocrine Carcinoma	Increased serum serotonin, Neuroendocrine neoplasm, Right ventricular failure, Palpitations, Chro...	ORPHA:100085
Duane-Radial Ray Syndrome	Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi...	OMIM:607323
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Microretrognathia, Polysplenia, Splenomegaly, Ventricular septal defect, Hepato...	OMIM:619418
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent pneumonia, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Gran...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent pneumonia, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Gran...	OMIM:233710
Periodic Fever, Familial, Autosomal Dominant	Cervical lymphadenopathy, Hepatomegaly, Gastrointestinal hemorrhage, Pleuritis	OMIM:142680
Middle Ear Neuroendocrine Tumor	Neuroendocrine neoplasm, Carcinoid tumor, Chronic noninfectious lymphadenopathy	ORPHA:100084
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Finger syndactyly, Hydrometrocolpos, Type II diabetes m...	ORPHA:110
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Recurrent upper respiratory tract infections, Absent natural killer cells, Lymphopenia...	OMIM:600802
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Brachydactyly, Short long bone, Polydactyly	OMIM:613819
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Vasculitis, Recurrent pneumonia, Hematochezia, Cervical lymphaden...	OMIM:617718
Joubert Syndrome 16	Polydactyly	OMIM:614465
Encephalitis Lethargica	Bradycardia	ORPHA:83600
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent pneumonia, Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Gran...	OMIM:233690
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Pneumonia, Type I diabetes mellitus, Interstitial pneumonitis, Autoimmune hemolytic anemia, Abnor...	ORPHA:37042
Fontaine Progeroid Syndrome	Small scrotum, Micrognathia, Narrow mouth, Cryptorchidism, Protruding tongue, Bicuspid aortic val...	OMIM:612289
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Combined Oxidative Phosphorylation Deficiency 39	Type I diabetes mellitus, Recurrent respiratory infections, Sinus bradycardia	OMIM:618397
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Preaxial polydactyly, Hamartoma of tongue, Accessory oral frenulum...	OMIM:616546
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Aortic regurgitation, Toe syndactyly, Breast hypoplasia, Cryptorchidism, P...	ORPHA:464306
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia	ORPHA:540
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Supernumerary nipple, Open bite, Open mouth, Cryptorchidism, Ve...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Supernumerary nipple, Open bite, Open mouth, Cryptorchidism, Ve...	ORPHA:352665
Orofaciodigital Syndrome Xiv	Cleft lip, Natal tooth, Broad hallux, Microretrognathia, Preaxial polydactyly, Hamartoma of tongu...	OMIM:615948
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Vasculitis, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy, Neutroph...	OMIM:617099
Immunodeficiency 31C	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Hypothyroidism, Delayed puberty, Lymphade...	OMIM:614162
Kinsship Syndrome	Mandibular prognathia, Downturned corners of mouth, Thick lower lip vermilion, Widely spaced teet...	OMIM:619297
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Arrhythmia, Cardiomegaly	OMIM:255120
Fucosidosis	Hepatomegaly, Abnormality of the dentition, Hypothyroidism, Cardiomegaly	ORPHA:349
Familial Aortic Dissection	Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function	ORPHA:229
Dermatomyositis	Vasculitis, Abnormal eosinophil morphology, Sinus tachycardia, Lung adenocarcinoma, Arrhythmia, P...	ORPHA:221
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepatomegaly, Lymphadenop...	OMIM:610377
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, Hepatomegaly, Lymph...	OMIM:603553
Steinert Myotonic Dystrophy	Hyperinsulinemia, Decreased fertility, Talipes equinovarus, Prolonged PR interval, Secondary hype...	ORPHA:273
Faciocardiomelic Syndrome	Dental malocclusion, Slender long bone, Hyperplasia of the maxilla, Long philtrum, Hypoplastic pe...	OMIM:612731
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Cryptorchi...	OMIM:210710
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Finger aplasia, Hand polydactyly, Lymphangioma, Syndactyly	OMIM:149000
Constricting Bands, Congenital	Cleft upper lip, Abnormal lung lobation, Talipes equinovarus, Hand polydactyly, Ectopia cordis, C...	OMIM:217100
Melkersson-Rosenthal Syndrome	Furrowed tongue, Macroglossia, Cheilitis, Lymphadenopathy	ORPHA:2483
Papa Syndrome	Type I diabetes mellitus, Lymphadenopathy	ORPHA:69126
Monosomy 9Q22.3	Palmar pits, Delayed eruption of teeth, Long philtrum, Narrow mouth, Cardiac fibroma, Polydactyly...	ORPHA:77301
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Carious teeth, Lacrimal gland hypoplasia, Delayed eruption of pri...	OMIM:149730
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:267700
Microphthalmia, Syndromic 6	Small scrotum, Toe syndactyly, Finger syndactyly, Thumb contracture, Micrognathia, Cryptorchidism...	OMIM:607932
Beckwith-Wiedemann Syndrome	Macroglossia, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Adrenocor...	OMIM:130650
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Peters-Plus Syndrome	Square pelvis bone, Micrognathia, Short lingual frenulum, Cryptorchidism, Limited elbow movement,...	OMIM:261540
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Oral ulcer, Lymphadenopathy, Neutr...	OMIM:260920
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, He...	ORPHA:228308
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Joubert Syndrome 17	Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly	OMIM:614615
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Third degree atrioventricular block, Cervical lymphadenopathy, Lymphopeni...	OMIM:619573
Okamoto Syndrome	Aortic valve stenosis, Exaggerated median tongue furrow, Downturned corners of mouth, Abnormal he...	ORPHA:2729
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Hypertensive crisis, Elevated circulating calcitonin concentration, E...	ORPHA:653
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Congenital hip dislocation, Absent nipple, Mitral valve prolapse, Cubitus valgus, High palate, Sy...	OMIM:104350
Trichorhinophalangeal Syndrome, Type Ii	Carious teeth, Hyperplasia of the maxilla, Hydrometrocolpos, Micrognathia, Bicuspid aortic valve,...	OMIM:150230
Neuroendocrine Neoplasm Of Appendix	Increased serum serotonin, Hypotension, Primary hypercortisolism, Chronic noninfectious lymphaden...	ORPHA:100079
Charge Syndrome	Abnormal tibia morphology, Narrow mouth, Cryptorchidism, Abnormal morphology of female internal g...	ORPHA:138
Khan-Khan-Katsanis Syndrome	Clinodactyly, Tricuspid regurgitation, Lymphopenia, Micrognathia, Tented upper lip vermilion, Pat...	OMIM:618460
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Clinodactyly, Hyperplasia of the maxilla, Enlarged labia minora, Micrognath...	OMIM:268300
Choanal Atresia	Recurrent respiratory infections, Chronic sinusitis, Polydactyly	ORPHA:137914
Hartsfield Syndrome	Hypoplasia of the frontal bone, Ectrodactyly, Cleft upper lip, Cryptorchidism, Gonadotropin defic...	OMIM:615465
Cerebrooculonasal Syndrome	Narrow palate, Downturned corners of mouth, Long philtrum, Malar flattening, Postaxial polydactyl...	OMIM:605627
Mullegama-Klein-Martinez Syndrome	Hypoplastic left heart, Bifid uvula, Submucous cleft of soft and hard palate, Cleft lip, Long phi...	OMIM:301022
Liver Disease, Severe Congenital	Dilatation of the ventricular cavity, Micrognathia, Ventricular septal defect, Pulmonary edema, A...	OMIM:619991
Lesch-Nyhan Syndrome	Testicular atrophy, Megaloblastic anemia, Hip dislocation	OMIM:300322
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Atelectasis, Hypertrophic cardiomyopathy, Transient ischemic attack, Heart murmur, Re...	ORPHA:365
Primary Sjögren Syndrome	Normocytic anemia, Vasculitis, Usual interstitial pneumonia, Arteritis, Vaginal dryness, Bronchit...	ORPHA:289390
Beckwith-Wiedemann Syndrome	Macroglossia, Mandibular prognathia, Visceromegaly, Polycythemia, Abnormal pancreas morphology, H...	ORPHA:116
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Tooth malposition, Small hand, Overlapping toe, Atrial septal defect, High palate, Short foot, Sl...	ORPHA:480880
Malt Lymphoma	Abnormality of the thyroid gland, Lymphadenopathy, Anemia, Recurrent respiratory infections, Medi...	ORPHA:52417
Immunodeficiency 82 With Systemic Inflammation	Pneumonia, Reduced natural killer cell count, Anoperineal fistula, Bronchitis, Decreased proporti...	OMIM:619381
Riddle Syndrome	Pneumonia, Recurrent pneumonia, Bronchitis, Recurrent sinusitis, Chronic sinusitis, Telangiectasi...	ORPHA:420741
Aicardi-Goutieres Syndrome 7	Pneumonia, Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Pancytopenia, Pericardial effus...	OMIM:615846
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Broad thumb, Ventricular septal defect, Broad first met...	OMIM:619534
3-Methylglutaconic Aciduria, Type Viii	Neutropenia, Bradycardia	OMIM:617248
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving the shoulder musculature, Supernumerary nipple, Short lingual frenul...	ORPHA:1521
Senior-Loken Syndrome 8	Pancreatic cysts, Polydactyly	OMIM:616307
Meige Disease	Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center	ORPHA:90186
Saethre-Chotzen Syndrome	Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe...	OMIM:101400
Grange Syndrome	Coronary artery stenosis, Finger clinodactyly, Bicuspid aortic valve, Brachydactyly, Renovascular...	OMIM:602531
Cutaneous Neuroendocrine Carcinoma	Merkel cell skin cancer, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Lymphoid leukemia	ORPHA:79140
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction	OMIM:208000
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Hypertrophic cardiomyopathy, Short humerus, Polydactyly, Patent foramen ovale, Orofacial cleft, H...	ORPHA:17
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy, Congestive heart failure	OMIM:619259
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Tooth malposition, Long hallux, Genu valgum, Open mouth, Cryptorchidism, A...	ORPHA:261537
Abetalipoproteinemia	Congestive heart failure, Acanthocytosis, Reticulocytosis, Cardiomegaly, Talipes equinovarus, Hep...	ORPHA:14
Neurocardiofaciodigital Syndrome	Retrognathia, Tetralogy of Fallot, Polydactyly, Atrial septal defect, High palate, Thin vermilion...	OMIM:619869
Familial Pancreatic Carcinoma	Peritoneal abscess, Pancreatic adenocarcinoma, Hepatosplenomegaly, Ovarian carcinoma, Lymphadenop...	ORPHA:1333
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy...	OMIM:157640
Neuroblastoma	Elevated circulating catecholamine level, Lymphadenopathy, Thrombocytopenia, Anemia, Hypertension	ORPHA:635
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Micrognathia, Mitral valve prolapse, Arachnodactyly, Talipes equin...	OMIM:610168
Leptospirosis	Hypotension, Pulmonary hemorrhage, Pleural effusion, Retinal hemorrhage, Arrhythmia, First degree...	ORPHA:509
Plague	Hypotension, Lymphadenitis, Chapped lip, Splenomegaly, Arrhythmia, Tachycardia, Hematemesis, Acut...	ORPHA:707
Mowat-Wilson Syndrome	Aortic valve stenosis, Tooth malposition, Genu valgum, Open mouth, Cryptorchidism, Bicuspid aorti...	ORPHA:2152
Tangier Disease	Coronary artery stenosis, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventric...	ORPHA:31150
Klatskin Tumor	Hepatomegaly, Lymphadenopathy	ORPHA:99978
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Tooth malposition, Hyphema, Long hallux, Genu valgum, Open mouth, Cryptorc...	ORPHA:261552
Pancreatoblastoma	Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Chronic ly...	ORPHA:51
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Blau Syndrome	Camptodactyly of finger, Large vessel vasculitis, Splenomegaly, Pulmonary arterial hypertension, ...	ORPHA:90340
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Thick vermilion bord...	ORPHA:79280
Joubert Syndrome 39	Postaxial polydactyly, Hypoplastic left heart, Joint contracture of the 5th finger	OMIM:619562
African Trypanosomiasis	Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu...	ORPHA:3385
Multiple Myeloma	Anemia, Splenomegaly, Pleural effusion, Lymphadenopathy	ORPHA:29073
Loeys-Dietz Syndrome 1	Bifid uvula, Pulmonary artery aneurysm, Retrognathia, Micrognathia, Malar flattening, Mitral valv...	OMIM:609192
Microphthalmia, Syndromic 1	High, narrow palate, Tooth malposition, Joint contracture of the hand, Pulmonary hypoplasia, Dent...	OMIM:309800
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy, Hip contracture	OMIM:620232
Systemic Lupus Erythematosus	Leukopenia, Oral ulcer, Hypertension, Abnormal pigmentation of the oral mucosa, Lymphadenopathy, ...	ORPHA:536
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Adrenal calcification, Abnormal hip joint morphology, Left ventricular s...	ORPHA:51608
Vater/Vacterl Association	Short thumb, Preaxial polydactyly, Tetralogy of Fallot, Ventricular septal defect, Radioulnar syn...	OMIM:192350
Malakoplakia	Abnormality of the menstrual cycle, Prostate neoplasm, Follicular hyperplasia, Orchitis	ORPHA:556
Igg4-Related Dacryoadenitis And Sialadenitis	Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargement of parot...	ORPHA:79078
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia, Aspiration pneumonia	OMIM:619482
Adenocarcinoma Of The Anal Canal	Intestinal bleeding, Lymphadenopathy, Neoplasm of the lung	ORPHA:424016
Chikungunya	Gingival bleeding, Epistaxis, Cervical lymphadenopathy, Raynaud phenomenon, Lymphadenopathy	ORPHA:324625
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tyro3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tyro3.

No publications found that use IMPC mice or data for Tyro3.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Tyro3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Tyro3^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Tyro3^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Tyro3^{tm33622(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Tyro3 MGI:104294

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Tyro3 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data