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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	8.11×10^-05
enlarged thymus	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal lung morphology	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small testis	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal eye morphology	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
polysyndactyly	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	2.08×10^-16
abnormal lymph node morphology	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal skin morphology	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased circulating chloride level	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	4.23×10^-05
enlarged heart	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal heart morphology	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal tooth morphology	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased circulating creatine kinase level	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	4.69×10^-05
abnormal thymus morphology	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal testis morphology	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal digit morphology	Tyro3^{em1(IMPC)Ccpcz}	HOM	Early adult	2.29×10^-08

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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 (755 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
Intellectual Developmental Disorder, X-Linked 96	Seizure	OMIM:300802
Kifafa Seizure Disorder	Seizure	OMIM:245180
Intellectual Developmental Disorder, X-Linked 88	Seizure	OMIM:300852
Intellectual Developmental Disorder, Autosomal Dominant 3	Seizure	OMIM:612580
Glycosylphosphatidylinositol Biosynthesis Defect 16	Seizure	OMIM:617816
15q13.3 microdeletion syndrome	Seizure	DECIPHER:74
Epilepsy, Nocturnal Frontal Lobe, 3	Seizure	OMIM:605375
Intellectual Developmental Disorder, Autosomal Recessive 10	Seizure	OMIM:611096
Intellectual Developmental Disorder, Autosomal Dominant 10	Seizure	OMIM:614256
Epilepsy, Nocturnal Frontal Lobe, 1	Focal-onset seizure, Seizure	OMIM:600513
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Brachydactyly, Hypogonadotropic hypogonadism, Eosi...	ORPHA:353298
Roifman Syndrome	Hepatomegaly, Noncompaction cardiomyopathy, Short metacarpal, Ventricular septal defect, Eosinoph...	OMIM:616651
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Eosinophilia, Familial	Eosinophilia, Recurrent bronchitis, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infil...	OMIM:131400
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Abnormal lung morphology, Cleft palate, Upper limb phocomelia, Abnormal heart morphol...	ORPHA:294975
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Immunodeficiency 32B	Recurrent respiratory infections, Hepatomegaly, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia,...	OMIM:226990
Kimura Disease	Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia	ORPHA:482
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Dental crowding, Eosinophilia, Clubbing, Bronchiectasis, Hip di...	OMIM:618523
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Azoospermia, Male hypogonadism, Syndactyly	OMIM:241000
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Squamous Cell Carcinoma Of The Esophagus	Clinodactyly of the 5th toe, Lymphadenopathy	ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Nodular pattern on pulmonary HRCT, Follicular hyperpl...	ORPHA:60026
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Hepatic Venoocclusive Disease With Immunodeficiency	Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Elevated proportion of CD4-negati...	OMIM:619802
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Genita...	OMIM:602450
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Epilepsy, Idiopathic Generalized, Susceptibility To, 14	Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo...	OMIM:616685
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia, Abnormal pleura morphology	ORPHA:2582
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Abnormality of the gingiva, Anemia, Thrombocytopenia	ORPHA:517
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Thin upper lip vermilion, Eosinophilia, Oli...	OMIM:618092
Omenn Syndrome	Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Short toe, Thyroiditis, Lympha...	ORPHA:39041
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:607115
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val...	ORPHA:75566
Cystic Echinococcosis	Multiple pulmonary cysts, Hepatomegaly, Pulmonary cyst, Eosinophilia, Abnormality of the testis s...	ORPHA:400
Bardet-Biedl Syndrome 5	Syndactyly, External genital hypoplasia, Hypogonadism, Polydactyly, Micropenis, Brachydactyly	OMIM:615983
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Hypere...	OMIM:615387
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Recurren...	ORPHA:169154
Bardet-Biedl Syndrome 4	Syndactyly, External genital hypoplasia, Abnormality of the dentition, Cryptorchidism, Hypogonadi...	OMIM:615982
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Eosinophilia, Micrognathia, Abnormality of the dentition, Recur...	OMIM:618282
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Persistence of primary teeth, Recurrent pneumon...	OMIM:147060
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Atria...	OMIM:274000
Cyclic Neutropenia	Premature loss of permanent teeth, Sinusitis, Cyclic neutropenia, Respiratory tract infection, Pe...	ORPHA:2686
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Pneumonia, Eosinophi...	ORPHA:486
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Follicular hyperplasia, Bronchiectasis, Hepatosplenomegaly, Lym...	OMIM:619126
Immunodeficiency 88	Eosinophilia	OMIM:619630
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia, Scapular winging, Elevated circulating creatine kinase concentration	OMIM:253600
Immunodeficiency 104	Hepatomegaly, Pneumonia, Splenomegaly, Oral ulcer, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Pneumonia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8...	ORPHA:911
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Abnormal reproductive...	ORPHA:65759
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614495
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Elevated circulating creatine kinase concentration, Limited elbow mov...	OMIM:300280
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Ethanolaminosis	Cardiomegaly	OMIM:227150
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614496
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Recurrent upper...	OMIM:613101
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Hypogonadism, Narrow mouth, Malar flatten...	OMIM:615984
Bardet-Biedl Syndrome 11	Polydactyly, Hypogonadism	OMIM:615988
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Bronchiectasis, Pneumonia	OMIM:617638
Adenocarcinoma Of The Esophagus	Clinodactyly of the 5th toe, Lymphadenopathy	ORPHA:99976
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Short phal...	ORPHA:508533
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Incre...	OMIM:235200
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf...	ORPHA:444463
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ...	OMIM:102700
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Natal tooth, Eosinophilia, Micrognath...	OMIM:617237
Aspergillosis	Sinusitis, Pneumonia, Eosinophilia, Hypersensitivity pneumonitis, Bronchiectasis, Abnormal long b...	ORPHA:1163
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Thin upper lip vermilion, Cardiomegaly, Palmoplantar keratoderma, Enamel hypoplasia	OMIM:613576
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi...	OMIM:615513
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy, Club...	OMIM:618982
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Idiopathic Chronic Eosinophilic Pneumonia	Elevated circulating C-reactive protein concentration, Atelectasis, Leukocytosis, Hypersensitivit...	ORPHA:2902
Immunodeficiency 27A	Hypoplasia of the femoral head, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatospl...	OMIM:209950
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb...	OMIM:300853
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	OMIM:603552
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Anemia, Lymphadenopathy	OMIM:312500
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ...	OMIM:269920
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
Filippi Syndrome	Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, C...	OMIM:272440
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased proportion of CD3-pos...	ORPHA:169160
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Single transverse palmar crease, Eosi...	OMIM:617425
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Decreased response to growth hormone stimul...	ORPHA:1263
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Enanthema, Myocarditis, Thyroiditis, Lymphadenopathy, Interstitial pneumonitis, Lym...	ORPHA:139402
Pgm3-Cdg	Recurrent respiratory infections, Hemolytic anemia, Brachydactyly, Abnormal proportion of CD8-pos...	ORPHA:443811
Bardet-Biedl Syndrome 10	Polydactyly, Hypogonadism	OMIM:615987
Mulibrey Nanism	Hepatomegaly, Dental crowding, Single transverse palmar crease, Cardiomegaly, Absent frontal sinu...	OMIM:253250
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi...	OMIM:619220
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Re...	OMIM:620282
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Microphthalmia, Isolated 4	Absent testis, Postaxial polydactyly	OMIM:613094
Lymphatic Filariasis	Orchitis, Lymphadenitis, Abnormal lung morphology, Epididymitis, Hypereosinophilia, Vaginal hydro...	ORPHA:2035
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eosinophilia, Recurrent pneumonia, Bronchiectasis, Recurrent ...	OMIM:243700
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi...	ORPHA:3429
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Lymphadenopathy, Anemia, Coombs-positive hemolytic ane...	OMIM:304790
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Bilateral cryptorchidis...	OMIM:305400
Burkitt Lymphoma	Abnormality of the spleen, Abnormal lymph node morphology, Neoplasm of the oral cavity, Hyperuric...	ORPHA:543
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias...	OMIM:617927
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the distal pha...	OMIM:113000
Timothy Syndrome	Thin upper lip vermilion, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent ...	OMIM:601005
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Pulmonary hypoplasia, Clinodactyly of the 5th finger, Testicular atrophy	OMIM:601163
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Mandibular prognathia, Elevated circulating C-reactive protein concentration, Microcytic anemia, ...	OMIM:619750
Orofaciodigital Syndrome Xvii	Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio...	OMIM:617926
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac...	OMIM:610140
Bardet-Biedl Syndrome 16	Recurrent respiratory infections, External genital hypoplasia, Hypogonadism, Polydactyly, Bronchi...	OMIM:615993
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop...	OMIM:619164
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Narrow palate, Femoral b...	OMIM:617022
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:2070
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Elevated carcinoembryo...	ORPHA:100083
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-react...	OMIM:613011
Bardet-Biedl Syndrome 19	Ventricular septal defect, External genital hypoplasia, Partial atrioventricular canal defect, Me...	OMIM:615996
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micrognathia, Cryptorchid...	OMIM:600325
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Suleiman-El-Hattab Syndrome	Microretrognathia, Recurrent respiratory infections, Thin upper lip vermilion, Ventricular septal...	OMIM:618950
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presen...	OMIM:607594
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy	OMIM:618852
Autoimmune Lymphoproliferative Syndrome	Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD...	ORPHA:3261
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o...	ORPHA:90794
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Eosinophilia, Abnormality of the den...	ORPHA:2314
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cor...	ORPHA:199299
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Abnormality of the dentition, Hyposegmenta...	OMIM:169400
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, ...	OMIM:150550
Hereditary Folate Malabsorption	Recurrent respiratory infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Cheilitis, Gl...	ORPHA:90045
Moebius Syndrome	Syndactyly, Brachydactyly, Hypogonadotropic hypogonadism, Micrognathia, Abnormality of the dentit...	OMIM:157900
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Abnormality of the palmar crea...	OMIM:618652
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Cardiomegaly, Abnormal thumb morphology, Protruding tongue, Abnormal atrio...	ORPHA:324410
Autoinflammation, Immune Dysregulation, And Eosinophilia	Hypothyroidism, Eosinophilia, Hepatosplenomegaly	OMIM:618999
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Alveolar Echinococcosis	Pulmonary cyst, Liver abscess, Eosinophilia, Abnormal pericardium morphology, Abnormal pelvis bon...	ORPHA:284
Coccidioidomycosis	Abnormal sperm morphology, Pericarditis, Pneumonia, Eosinophilia, Abscess, Abnormality of the fem...	ORPHA:228123
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Ventricular septal defect, Aplasi...	ORPHA:2256
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology, Abnormal pleura morphology	ORPHA:724
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Anemia	ORPHA:100025
Eosinophilic Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Sinusitis, Abnormal pericardium morphology, Eosinophilia, Ab...	ORPHA:183
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Hepatomegaly, Follicular hyperp...	OMIM:614470
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Hypoplastic right heart, Ventricular septal defect, Overlapping toe, Postax...	OMIM:618142
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Recurrent pneumonia, Eosinophilia	OMIM:610163
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic ...	ORPHA:465508
Incontinentia Pigmenti	Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Eosinophilia, Supernume...	ORPHA:464
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Swelling of proximal interphalangeal joi...	ORPHA:3260
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Aplastic anemia, Elevated circulati...	OMIM:308240
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow pa...	OMIM:613684
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade...	OMIM:240500
Igg4-Related Ophthalmic Disease	Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Orchitis, Abnorma...	ORPHA:449563
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Lymphadenopath...	OMIM:611762
Cantu Syndrome	Bicuspid aortic valve, Broad hallux, Short hallux, Cardiomegaly, Pericardial effusion, Coxa valga...	OMIM:239850
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, B ...	ORPHA:397596
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Osteolysis in...	ORPHA:88630
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Recurrent pneu...	OMIM:619644
Distal Duplication 18Q	Hypoplasia of penis, Arachnodactyly, Camptodactyly of finger, Abnormal dental morphology, Microgn...	ORPHA:1716
Peeling Skin Syndrome 1	Palmoplantar hyperhidrosis, Eosinophilia	OMIM:270300
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Lymphadenopathy, Anemia, Thrombocytopenia	ORPHA:858
Acrofacial Dysostosis, Catania Type	Hypospadias, Single transverse palmar crease, Carious teeth, Cryptorchidism, Short palm	OMIM:101805
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis, Ab...	ORPHA:449427
O'Sullivan-Mcleod Syndrome	Eosinophilia, Intrinsic hand muscle atrophy, Hand muscle weakness	ORPHA:99965
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Generaliz...	OMIM:618986
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Elevated circulat...	ORPHA:79126
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cheilitis, Lymphadenopathy, Neutropenia	ORPHA:293173
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Eosinophilia, Erythematous oral mucosa, Recurrent pneumonia, Cor pulmonale, Furrowed t...	OMIM:158310
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh...	OMIM:300244
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly, Congenital hypothyroidism	ORPHA:88643
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Elevated circulating C-reactive protein concentration, Pleural thickening, Bronc...	OMIM:619632
Orofaciodigital Syndrome Viii	Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia, Recurrent aspi...	OMIM:300484
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Sple...	ORPHA:507
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Hypoplasia of penis, Micrognathia, Cryptorchidism, Leukocytosis, Lymp...	ORPHA:99812
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Recurrent respiratory infections, Postaxial polydactyly, Cryptorchidism, Short long bone, Brachyd...	OMIM:615633
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Pleural Mesothelioma	Hepatomegaly, Abnormal pleura morphology, Abnormal lung morphology, Lymphadenopathy, Pleural effu...	ORPHA:50251
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Sinusitis, Absence of lymph node germinal center, Recurrent upper respiratory tract infections, R...	ORPHA:277
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Recurrent sinopulmonary infections, Decreased proportion of CD4+CD25+ regulatory T cells, Follicu...	OMIM:619846
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Hypospadias, Ventricular septal defect, Fractured radius, Cardiomegaly, Decreased fi...	OMIM:616897
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ...	ORPHA:481
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Recurrent respiratory infections, Hepatomegaly, Decreased proportion of marginal zone B cells, Au...	OMIM:619375
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Accessory oral frenulum, Conical tooth, Complete atrioventricular canal de...	OMIM:619142
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula...	OMIM:214700
Ritscher-Schinzel Syndrome 2	Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hallux, Overlapping toe, C...	OMIM:300963
Immunodeficiency 23	Recurrent respiratory infections, Hemolytic anemia, Eosinophilia, Abscess, Bronchiectasis, High p...	OMIM:615816
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Diffuse al...	OMIM:614034
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Syndactyly, Hypospadias, Dysmenorrhea, Micrognathia, Cryptorchidism, Cleft palate,...	ORPHA:397590
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo...	ORPHA:319487
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Hypospadias, Bowing of the long bones, Micromeli...	OMIM:614091
Wells Syndrome	Eosinophilia	ORPHA:901
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Atrial septal defect, M...	ORPHA:289
48,Xxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Small scrotum, Clinodactyly of the 5th finger, Abnorm...	ORPHA:96263
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Tularemia	Brain abscess, Pneumonia, Mediastinal lymphadenopathy, Leukocytosis, Cervical lymphadenopathy, Th...	ORPHA:3392
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Recurre...	OMIM:619170
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Ventricular septal defect, Postaxial polydactyly, Micrognathia, Cryptor...	ORPHA:404440
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ...	OMIM:618048
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Small hand, Short foot, Cortic...	ORPHA:93324
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration	OMIM:313200
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars...	OMIM:617102
Follicular Lymphoma	Splenomegaly, Pleural effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Abnormal oral cavity morphology	ORPHA:42642
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Irregular dentition, Pericardial lymphangiectasia, Narrow mouth, Pulmonary lymphangie...	OMIM:616006
Immunodeficiency With Hyper-Igm, Type 5	Recurrent upper and lower respiratory tract infections, Epididymitis, Lymphadenopathy	OMIM:608106
Hypogonadism, Male	Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias	OMIM:241100
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom...	ORPHA:97290
Felty Syndrome	Recurrent respiratory infections, Hepatomegaly, Pericarditis, Sinusitis, Recurrent pharyngitis, T...	ORPHA:47612
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Ventricular septal defect, Polydactyly, Leukemia, Smooth philtrum	OMIM:602501
Orofaciodigital Syndrome Type 2	Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib...	ORPHA:2751
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Hamamy Syndrome	Microcytic anemia, Micrognathia, High palate, Clinodactyly of the 5th finger, Atrial septal defec...	OMIM:611174
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Cryptorchidism, Hypospadias, Polydactyly, Hypoplastic ischia	OMIM:616910
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypoplastic nipples, Hypodontia,...	OMIM:603543
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenom...	OMIM:615631
Igg4-Related Kidney Disease	Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis,...	ORPHA:449395
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-rea...	ORPHA:829
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Abnormal external genitalia, Dental crowding, Upper limb asymmetry, Polydactyly, High palate, Cli...	ORPHA:231140
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sandal gap, Hypospadias, Dental crowding, Postaxial polydactyly, Microg...	OMIM:615761
Orofaciodigital Syndrome V	Recurrent respiratory infections, Thin upper lip vermilion, Median cleft lip, Ventricular septal ...	OMIM:174300
Chromosome 3Pter-P25 Deletion Syndrome	Thin upper lip vermilion, Overlapping toe, Postaxial polydactyly, Tapered finger, Micrognathia, C...	OMIM:613792
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:85414
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Bardet-Biedl Syndrome 8	Hypogonadism, Hypospadias, Postaxial polydactyly, Situs inversus totalis	OMIM:615985
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Dextrocardia, Mesoaxial hand polydactyly, Situs i...	OMIM:615994
Igg4-Related Aortitis	Hypereosinophilia, Elevated circulating C-reactive protein concentration	ORPHA:449400
Orofaciodigital Syndrome Type 10	Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ...	ORPHA:2756
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Mediastinal lymphadenopathy, Lymphad...	ORPHA:83469
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Sarcoidosis	Abnormal lung morphology, Increased T cell count, Leukopenia, Emphysema, Hypothyroidism, Hemolyti...	ORPHA:797
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Re...	OMIM:618935
49,Xxxxy Syndrome	Mandibular prognathia, Hypoplasia of penis, Small scrotum, Clinodactyly of the 5th finger, Abnorm...	ORPHA:96264
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Accessory oral frenulum, Hamartoma of tongue...	OMIM:258860
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia...	OMIM:212780
Immunodeficiency 54	Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess,...	OMIM:609981
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Pseudo-Torch Syndrome 3	Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenit...	OMIM:618886
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Hypospadias, Abnormality of the dentition, C...	ORPHA:1786
Endocrine-Cerebroosteodysplasia	Small scrotum, Single transverse palmar crease, Adrenal hypoplasia, Micromelia, Micrognathia, Pre...	OMIM:612651
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Short 2nd finger, Ventricular septal defect, Broad hallux, Sandal gap, ...	OMIM:600987
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Pneumonia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 r...	OMIM:607271
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Lymphocytic intersti...	OMIM:618495
Mogs-Cdg	Atrial septal defect, Hepatomegaly, External genital hypoplasia, Cardiomegaly, Retrognathia, Hepa...	ORPHA:79330
H Syndrome	Hallux valgus, Hypertriglyceridemia, Diabetes mellitus, Microcytic anemia, Cleft upper lip, Recur...	ORPHA:168569
9Q21.13 Microdeletion Syndrome	Cryptorchidism, Abnormal tongue morphology, Abnormal heart morphology, Downturned corners of mout...	ORPHA:531151
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T c...	OMIM:618987
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly	OMIM:614096
Incontinentia Pigmenti	Delayed eruption of teeth, Eosinophilia, Supernumerary nipple, Conical tooth, Leukocytosis, Oligo...	OMIM:308300
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, ...	OMIM:619148
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Igg4-Related Submandibular Gland Disease	Eosinophilia, Abnormality of the thyroid gland, Prostatitis, Enlarged lacrimal glands, Abnormal p...	ORPHA:449432
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia, ...	OMIM:608184
Joubert Syndrome 18	Bowing of the long bones, Trident pelvis, Ventricular septal defect, Postaxial polydactyly, Cleft...	OMIM:614815
Ritscher-Schinzel Syndrome 1	Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasi...	OMIM:220210
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom...	OMIM:256550
Holt-Oram Syndrome	Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o...	ORPHA:392
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Hypospadias, Cleft palate, High ...	OMIM:619736
Granulomatous Slack Skin	Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Broad hallux, Proxima...	ORPHA:435638
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly, Hypogonadism	OMIM:617119
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Oral ulcer, Lymph...	OMIM:615122
Lethal Acantholytic Erosive Disorder	Natal tooth, Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Cardiomyop...	ORPHA:158687
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Hennekam Syndrome	Delayed eruption of teeth, Recurrent respiratory infections, Finger syndactyly, Abnormal dental m...	ORPHA:2136
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Preaxial polydactyly, Hypogonadism, Delayed puberty	ORPHA:141333
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Pulmonary fibrosis, Testicular atrophy...	OMIM:618165
Wolfram Syndrome 1	Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism...	OMIM:222300
Netherton Syndrome	Recurrent respiratory infections, Hypereosinophilia	OMIM:256500
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent respiratory infections, Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic...	OMIM:614700
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Allergic Bronchopulmonary Aspergillosis	Emphysema, Abnormal eosinophil morphology, Bronchiectasis	ORPHA:1164
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Cardiomegaly, Pneumothorax, Glandular hypospadias, Abnormal circulating ceruloplasmi...	OMIM:620306
Distal Duplication 5Q	Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Hypospadias, Absent thumb, Micro...	ORPHA:96097
Meckel Syndrome, Type 8	Cleft upper lip, Pericardial effusion, Cleft palate, Polydactyly, Talipes equinovarus, Ambiguous ...	OMIM:613885
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol...	ORPHA:1106
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop...	OMIM:617895
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Prominent fingertip pads, Bicuspid aortic valve, Arachnodactyly, Postaxial...	OMIM:619721
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Anemia,...	OMIM:618838
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp...	ORPHA:1452
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polyd...	OMIM:615503
Autosomal Dominant Popliteal Pterygium Syndrome	Bifid scrotum, Finger syndactyly, Thin upper lip vermilion, Small scrotum, Toe syndactyly, Lip pi...	ORPHA:1300
Congenital Myopathy 8	High palate, Cardiomegaly	OMIM:618654
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Lymphadenopathy, Hemophagocytosis, Neut...	ORPHA:79477
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Hypoplasia of penis, Hyperthyroidism, Hypospadias, Mitral steno...	ORPHA:2008
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocyt...	ORPHA:3226
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Micrognathia, Bilateral cryptorchidism, C...	ORPHA:2754
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Lymphad...	OMIM:605258
Kenny-Caffey Syndrome, Type 1	Carious teeth, Hypomagnesemia, Small hand, Short foot, Slender long bone, Hypocalcemia, Short pal...	OMIM:244460
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Arachnodactyly, Micrognathia, Talipes equinovarus, Chylothorax	OMIM:619036
Isolated Anencephaly	Cleft lip, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes	ORPHA:563609
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Synostosis ...	ORPHA:90652
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism	OMIM:613090
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hyperammonemia, Hypertrophic cardiomyopathy, Hyperalaninemia,...	OMIM:614702
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna...	OMIM:142900
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Cardiomegaly, Hepat...	ORPHA:99931
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Adrenal hypop...	OMIM:308050
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa...	ORPHA:158061
Proteus-Like Syndrome	Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi...	ORPHA:2969
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Micromelia, Cardiomegaly, Wide distal femoral metaphysis, Delayed epiphyse...	OMIM:613320
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Micrognathia, Downturned corners of mouth, Clitoral hypoplasia, Pulmonar...	OMIM:616894
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	Cryptorchidism, 2-3 finger syndactyly, Hamartoma of tongue, Subvalvular aortic stenosis	ORPHA:1338
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom...	ORPHA:199241
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner...	ORPHA:1507
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Premature ovarian insufficiency, Hypospadias, Overlapping toe, Endometriosis, Abnormality of the ...	ORPHA:363444
Retinitis Pigmentosa 89	Bicuspid aortic valve, Postaxial polydactyly, Hepatosplenomegaly	OMIM:618955
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Micrognathia, Shoulder dislocation, Atrial septal defect, Mi...	OMIM:245600
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Hypochlor...	OMIM:601678
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Irregular menstruation, Postaxial ...	OMIM:615986
Silver-Russell Syndrome 1	Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia, Sho...	OMIM:180860
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ...	ORPHA:93323
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, Micro...	ORPHA:3472
Adams-Oliver Syndrome 6	Syndactyly, Ventricular septal defect, Splenomegaly, Foot oligodactyly, Truncus arteriosus, Brach...	OMIM:616589
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated circulating creatine kinase conce...	OMIM:614576
Rabson-Mendenhall Syndrome	Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, High palate, Atrial septal defe...	ORPHA:769
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Short fourth metatarsal, Brachydactyly, Single transverse palmar crease, Cardiomega...	OMIM:618143
Robinow Syndrome	Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Orofacial cleft, Clito...	ORPHA:97360
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Cardiomegaly, Micrognathia, Metaphyseal widening, Progressiv...	OMIM:252500
Hypophosphatemic Rickets, Autosomal Recessive, 2	Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Pulmonic stenosis, Hypophosphatemic ...	OMIM:613312
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Hypospadias, Repeated pneumothoraces, Arachnodactyly, Sandal gap, Cryp...	OMIM:617602
Gamma-Heavy Chain Disease	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocy...	ORPHA:100026
Legionnaires Disease	Hyponatremia, Pericarditis, Abnormal pleura morphology, Recurrent pharyngitis, Abnormal lung morp...	ORPHA:549
Meckel Syndrome, Type 3	Hepatomegaly, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Bile duct pro...	OMIM:607361
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg...	ORPHA:1517
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ...	ORPHA:85451
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, C...	OMIM:212140
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Silver-Russell Syndrome 3	Syndactyly, Unilateral cryptorchidism, Small hand, Clinodactyly of the 5th finger, Ambiguous geni...	OMIM:616489
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Culler-Jones Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Postaxial polydactyly, Cleft upper li...	OMIM:615849
Iga Pemphigus	Oral mucosal blisters, Eosinophilia, Cutaneous abscess	ORPHA:555905
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ...	OMIM:277170
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Triangular mouth, Flattened epiphysis, Genu valgum, Polydac...	OMIM:607131
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Testicular atrophy, Oral leukoplakia, Thrombocytopenia	OMIM:613987
Attrv30M Amyloidosis	Cardiomyopathy, Impotence, Cardiomegaly	ORPHA:85447
Sézary Syndrome	Hepatomegaly, Abnormal pleura morphology, Splenomegaly, Lymphadenopathy, Palmoplantar keratoderma...	ORPHA:3162
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Amelogenesis imperfecta...	ORPHA:169090
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Hepatomegaly, Tapered toe, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:608836
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetri...	OMIM:252920
Mckusick-Kaufman Syndrome	Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Cryptorchidism, Postaxial hand p...	ORPHA:2473
Poems Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Hypothyroidism, Pericardial effusion, Met...	ORPHA:2905
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Hyperalaninemia, Hyperprolinemia, Cardiomegaly	OMIM:619064
Thymic Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Hypercalcemia, Pituitary null cell adenoma, Pancreatic isl...	ORPHA:97289
Tarp Syndrome	Finger syndactyly, Extramedullary hematopoiesis, Single transverse palmar crease, Rocker bottom f...	ORPHA:2886
Bardet-Biedl Syndrome 1	Syndactyly, Diabetes mellitus, Dental crowding, Postaxial polydactyly, Nephrogenic diabetes insip...	OMIM:209900
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pneumothorax, Bronchiectasis, Lymphadenopathy, Pleural effusion	ORPHA:411703
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thick upper lip vermilion, Thin upper lip vermilion, Single transverse...	OMIM:247200
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Joubert Syndrome 37	Hepatomegaly, Postaxial polydactyly, Cryptorchidism, High palate, Micropenis, Decreased testicula...	OMIM:619185
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Decreased response to growth hormone s...	ORPHA:96182
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H...	OMIM:613091
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Arachnodactyly, Cardiomegaly, Thenar muscle atrophy, Thin metatarsal c...	ORPHA:2463
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Microretrognat...	OMIM:616300
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi...	OMIM:308750
Truncus Arteriosus	Atrial septal defect, Ventricular septal defect, Anomalous origin of one pulmonary artery from as...	ORPHA:3384
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Hypospadias, Proximal placement of thumb, Micrognathia, Cryptorchidism, Pierre-Robin ...	OMIM:217980
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Glycogen Storage Disease Ii	Recurrent respiratory infections, Hepatomegaly, Increased circulating NT-proBNP concentration, El...	OMIM:232300
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li...	OMIM:311200
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,...	ORPHA:50918
Meckel Syndrome, Type 1	External genital hypoplasia, Adrenal hypoplasia, Micrognathia, Asplenia, Ambiguous genitalia, fem...	OMIM:249000
Ring Chromosome 12 Syndrome	Syndactyly, Secundum atrial septal defect, Cryptorchidism, Abnormal 5th finger morphology, High, ...	ORPHA:1439
Viss Syndrome	Micrognathia, High, narrow palate, Right ventricular dilatation, High palate, Atrial septal defec...	OMIM:619472
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ...	OMIM:259710
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Sinusitis, Splenomegaly, Lymphadenopathy, Anemia, Finger swel...	OMIM:617591
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukopenia, Bone marrow ...	ORPHA:381
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Short phalanx of finger, Hypothyr...	ORPHA:221008
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Recurrent pharyngi...	ORPHA:32960
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocy...	ORPHA:436159
Rapp-Hodgkin Syndrome	Syndactyly, Hypospadias, Supernumerary nipple, Conical tooth, Hypoplasia of the maxilla, Cleft up...	OMIM:129400
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Syndactyly, Anisocytosis, Anemia of inadequate p...	OMIM:224120
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy	OMIM:619051
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co...	OMIM:603553
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Pri...	OMIM:603903
Septooptic Dysplasia	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Polydactyly...	OMIM:182230
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Micrognathia, Pos...	OMIM:619879
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Acute Promyelocytic Leukemia	Pancytopenia, Metrorrhagia, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis, Gingival...	ORPHA:520
Rhabdoid Tumor	Thrombocytopenia, Hypercalcemia, Anemia, Lymphadenopathy	ORPHA:69077
Oslam Syndrome	Abnormality of neutrophils, Carious teeth, Radioulnar synostosis, Increased mean corpuscular volu...	ORPHA:2760
Immunodeficiency 10	Amelogenesis imperfecta, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, Premature thelarche, Micrognathia, Bilateral cr...	OMIM:180849
Naegeli-Franceschetti-Jadassohn Syndrome	Decreased number of sweat glands, Swelling of proximal interphalangeal joints, Interphalangeal jo...	ORPHA:69087
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, At...	OMIM:306955
Laurence-Moon Syndrome	Micropenis, Small scrotum, Polydactyly, Abnormality of the hand	OMIM:245800
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly, Hypersplenism, Splenomegaly, Pulmonic stenosis, Right ventricular hype...	OMIM:616028
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Cardiomegaly, High, narrow palate, Pineal cyst, Short philtrum, Widely spaced te...	OMIM:300967
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
20P13 Microdeletion Syndrome	Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl...	ORPHA:313781
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased propor...	OMIM:606367
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M...	OMIM:256040
Niemann-Pick Disease, Type A	Recurrent respiratory infections, Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Spleno...	OMIM:257200
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Postaxial hand polydactyly, Clef...	OMIM:614175
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal...	ORPHA:57777
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent u...	OMIM:616100
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, Asplenia, Orofacial cleft,...	ORPHA:221120
Bardet-Biedl Syndrome 20	Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, 2-3 toe syndactyly, ...	OMIM:619471
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Microdontia, Short phalanx of fin...	ORPHA:221016
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Recurrent respiratory infections, Hepatomegaly, Bowing of the long bon...	ORPHA:667
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Syndactyly, Radial bowing, Apl...	OMIM:605432
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Conical tooth, Increased T cell count, Re...	ORPHA:98813
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ...	OMIM:217095
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Everted upper lip vermilion, Cardiomegaly, Micrognathia, Splenomegaly, Hepatospleno...	OMIM:608013
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom...	ORPHA:824
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri...	OMIM:300855
Alpha-N-Acetylgalactosaminidase Deficiency	Recurrent pneumonia, Thick vermilion border, Cardiomegaly	ORPHA:3137
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D...	ORPHA:42
Acquired Hypertrichosis Lanuginosa	Macroglossia, Ovarian neoplasm, Glossitis, Lymphadenopathy	ORPHA:2221
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathi...	OMIM:263750
Congenital Sialidosis Type 2	Hepatomegaly, Protruding tongue, Respiratory tract infection, Gingival overgrowth, Abnormal heart...	ORPHA:93400
Cranioectodermal Dysplasia 2	Micrognathia, Fused teeth, High palate, Widely spaced teeth, Microdontia, Atrial septal defect, P...	OMIM:613610
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T...	OMIM:255120
Brucellosis	Liver abscess, Bronchitis, Elevated circulating C-reactive protein concentration, Leukopenia, Hep...	ORPHA:1304
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy,...	ORPHA:98850
Proteus Syndrome	Neoplasm of the thymus, Abnormal lung lobation, Abnormal finger morphology, Clinodactyly of the 5...	ORPHA:744
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Hep...	OMIM:618278
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Persistence of prim...	ORPHA:93325
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Lymphadenopathy, Neoplasm of the lung, Pheochromocytoma, Elevated ci...	ORPHA:1332
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Abnormal lymphocyte count, Absence ...	ORPHA:79124
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Abnormal lung lobation, Gonadotropin deficiency, Atrial septal...	ORPHA:672
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Pericarditis, Mediastinal lymphadenopathy, Splenomegaly, Myocardi...	ORPHA:809
Refsum Disease, Classic	Cardiomyopathy, Short fourth metatarsal, Elevated circulating phytanic acid concentration, Cardio...	OMIM:266500
Graft Versus Host Disease	Dupuytren contracture, Pneumonia, Limited elbow movement, Trismus, Oral ulcer, Lymphadenopathy, H...	ORPHA:39812
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, High palate, Clinodac...	ORPHA:3103
Senior-Loken Syndrome 9	Polydactyly, Hypogonadism, Hypoplasia of the femoral head, Chronic bronchitis	OMIM:616629
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Sp...	OMIM:615895
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula...	ORPHA:89938
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo...	ORPHA:167
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon...	OMIM:615873
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Opitz-Kaveggia Syndrome	Dental crowding, Single transverse palmar crease, Micrognathia, Prominent fingertip pads, Syndact...	OMIM:305450
Carpenter Syndrome 2	Single transverse palmar crease, Bilateral cryptorchidism, High, narrow palate, Preaxial polydact...	OMIM:614976
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism	OMIM:602522
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Pulmonary ...	ORPHA:3427
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly, Hip dysplasia, High palate, Long philtrum, Open mouth	OMIM:618798
Nephronophthisis 15	Polydactyly	OMIM:614845
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	ORPHA:540
Singleton-Merten Syndrome 1	Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruption failure, S...	OMIM:182250
Anaplastic Thyroid Carcinoma	Lymphadenopathy, Neoplasm of the lung, Anaplastic thyroid carcinoma, Nodular goiter, Goiter	ORPHA:142
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Tented upper lip vermilion, Micrognathia, Deep philtrum, Recurrent pneumonia, Abnormal heart morp...	ORPHA:314655
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypopla...	OMIM:311900
Bloom Syndrome	Syndactyly, Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidism, Recurrent up...	OMIM:210900
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Hyperactive renin...	OMIM:241200
Rothmund-Thomson Syndrome	Aplastic anemia, Selective tooth agenesis, Neutropenia, Microdontia, Calcinosis, Hypoplasia of th...	ORPHA:2909
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Iron deficiency anemia, Hypoalbuminemia, Hypocalcemia, Neutrope...	ORPHA:37042
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Thin upper lip vermilion, Atelectasis, Mediastinal lymphadenopathy, Leukocytosis, A...	OMIM:620233
Multiple Pterygium Syndrome, Escobar Variant	Micrognathia, Downturned corners of mouth, High palate, Camptodactyly of toe, Dislocated radial h...	OMIM:265000
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Leukopenia, Co...	ORPHA:1328
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Sinusitis, Thyroiditis, ...	ORPHA:83471
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Emphysema, Lym...	ORPHA:36412
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5t...	OMIM:609638
Castleman Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy...	ORPHA:160
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Metaphyseal dysplasia, Pneumonia, Autoimmune thrombocytopenia, ...	OMIM:607944
Mosaic Trisomy 16	Syndactyly, Hypospadias, Ventricular septal defect, Maternal diabetes, Single transverse palmar c...	ORPHA:1708
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Natal tooth, Septate vagina, Postaxial polydactyly, Micrognathia, Complete at...	OMIM:617925
Pycnodysostosis	Aplastic clavicle, Micrognathia, Absent frontal sinuses, Persistence of primary teeth, Delayed er...	OMIM:265800
Camptobrachydactyly	Syndactyly, Septate vagina, Short toe, Hand polydactyly, Congenital finger flexion contractures, ...	OMIM:114150
Bardet-Biedl Syndrome 3	External genital hypoplasia, Postaxial polydactyly, Brachydactyly	OMIM:600151
X-Linked Intellectual Disability, Snyder Type	Long toe, Mandibular prognathia, Hypospadias, Arachnodactyly, Dental crowding, Cryptorchidism, Na...	ORPHA:3063
Boutonneuse Fever	Abnormal skin morphology of the palm, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thro...	ORPHA:83313
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Hepatomegaly, Lymphadenopathy	ORPHA:56425
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Respiratory tract...	ORPHA:308552
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Splenomegaly, Pos...	OMIM:617088
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Bardet-Biedl Syndrome 6	Syndactyly, Diabetes mellitus, Hypospadias, External genital hypoplasia, Postaxial polydactyly, V...	OMIM:605231
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Recurrent respiratory infections, Abnormality of thyroid physiology, Postaxial polydactyly, Taper...	OMIM:300968
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H...	OMIM:201475
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Mevalonic Aciduria	Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:610377
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L...	OMIM:617713
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Patent foramen ...	ORPHA:439
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Elevated c...	OMIM:614921
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	OMIM:615688
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism, Deep philtrum, Trismus, ...	OMIM:227330
Farber Disease	Nodular pattern on pulmonary HRCT, Abnormality of the hand, Atelectasis, Thrombocytopenia, Recurr...	ORPHA:333
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p...	OMIM:617866
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Elevated circulating C-reactive protein concentration, Follicul...	OMIM:615934
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega...	ORPHA:96191
Meckel Syndrome, Type 2	Bowing of the long bones, Postaxial hand polydactyly, Cleft palate, Polydactyly, Bile duct prolif...	OMIM:603194
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Decreased respon...	ORPHA:1896
Mend Syndrome	Microretrognathia, Broad hallux, Overlapping toe, Micrognathia, Cryptorchidism, Long fingers, 2-3...	OMIM:300960
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni...	OMIM:214500
Joubert Syndrome 27	Thick lower lip vermilion, Polydactyly	OMIM:617120
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pneumonia, Pericardial effusion, Thr...	ORPHA:781
Acromelic Frontonasal Dysostosis	U-Shaped upper lip vermilion, Syndactyly, Cleft upper lip, Cryptorchidism, Preaxial polydactyly, ...	OMIM:603671
Fucosidosis	Recurrent respiratory infections, Hepatomegaly, Absent/hypoplastic paranasal sinuses, Cardiomegal...	OMIM:230000
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb...	ORPHA:331235
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy	ORPHA:3386
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c...	ORPHA:268
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Hypertriglyceridemia, Ventricular septa...	OMIM:619418
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Sandhoff Disease	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Impotence	OMIM:268800
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty...	OMIM:614099
3Mc Syndrome 3	Bifid scrotum, Cleft upper lip, Cryptorchidism, Clinodactyly, Preaxial polydactyly, Cleft palate,...	OMIM:248340
Thyroid Lymphoma	Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:97285
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m...	ORPHA:1071
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Abnormality of the temporomandibular joint, Abnorm...	ORPHA:85408
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Polydactyly, Abnormality of the uterus, Narrow mouth, Compl...	ORPHA:59315
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
Wiskott-Aldrich Syndrome	Recurrent respiratory infections, Hemolytic anemia, Recurrent intrapulmonary hemorrhage, Abnormal...	ORPHA:906
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Syndactyly, Hypospadias, Anterior...	OMIM:151050
Bohring-Opitz Syndrome	Recurrent respiratory infections, Ulnar deviation of the wrist, Cardiomegaly, Micrognathia, Cleft...	ORPHA:97297
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Hepatomegaly, Craniofacial hyperostosis, Cardiomegaly, Respir...	ORPHA:581
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly	ORPHA:391428
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Abnormal lung lobation, Narrow greater sciatic notch, Short palm, Atrial s...	OMIM:312870
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Pneumonia, Elevated circulating growth hormo...	ORPHA:97287
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Single transverse palmar crease, Micrognathia, Downturned corners of mouth, Atrial septal defect,...	OMIM:620186
Kaposi Sarcoma	Abnormality of the spleen, Abnormal lung morphology, Generalized lymphadenopathy	ORPHA:33276
Pediatric Systemic Lupus Erythematosus	Pericardial effusion, Oral ulcer, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia,...	ORPHA:93552
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Mediastinal lympha...	OMIM:181000
Degcags Syndrome	Micrognathia, Leukopenia, Iron deficiency anemia, High palate, Atrial septal defect, Patent foram...	OMIM:619488
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Odontogenic keratocysts of the jaw, Ovarian fibroma, Down-sloping shoulder...	OMIM:109400
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:617099
Carcinoid Syndrome	Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Small intestine carcinoid, Abno...	ORPHA:100093
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Atrial septal defect, Patent f...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Atrial septal defect, Patent f...	ORPHA:353277
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Myeloproliferative disorder, Lymphocytosis	ORPHA:79456
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:228308
Adnp Syndrome	Thin upper lip vermilion, Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe...	ORPHA:404448
Common Variable Immunodeficiency	Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen...	ORPHA:1572
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Widely spaced teeth, ...	ORPHA:268261
Lesch-Nyhan Syndrome	Testicular atrophy, Hyperuricemia, Hip dislocation, Megaloblastic anemia	OMIM:300322
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Micrognathia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevate...	OMIM:619991
Bartsocas-Papas Syndrome 1	Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Hypoplastic iliac wing, Microp...	OMIM:263650
Limb-Mammary Syndrome	Syndactyly, Absent nipple, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft ...	ORPHA:69085
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Ventricular septal defect, Sand...	OMIM:607323
Joubert Syndrome 23	Polydactyly	OMIM:616490
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Acanthocytosis, Cardiomeg...	ORPHA:14
Scrub Typhus	Myocarditis, Splenomegaly, Lymphadenopathy	ORPHA:83317
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Finger syndactyly, Ventricular septal defect, Micrognathia, Cryptorchidism, 2-3 toe...	OMIM:620025
Primary Sclerosing Cholangitis	Hepatomegaly, Abnormal eosinophil morphology, Splenomegaly, Thyroiditis, Hepatosplenomegaly, Hypo...	ORPHA:171
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidism, Lymphoc...	ORPHA:514
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Hartsfield Syndrome	Syndactyly, Median cleft lip, Hypospadias, Cleft upper lip, Cryptorchidism, Gonadotropin deficien...	OMIM:615465
Floating-Harbor Syndrome	Short middle phalanx of the 2nd finger, Glandular hypospadias, Downturned corners of mouth, Short...	OMIM:136140
Au-Kline Syndrome	Overlapping toe, Postaxial polydactyly, Supernumerary nipple, Coxa valga, Cryptorchidism, Dental ...	OMIM:616580
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Mesoaxial hand polydactyly, Cryptorchidism, Postaxial han...	OMIM:236700
Joubert Syndrome 16	Polydactyly	OMIM:614465
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C...	ORPHA:904
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the lung, Lymphadenopathy	ORPHA:424019
Nephroblastoma	Neoplasm of the lung, Lymphadenopathy	ORPHA:654
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, I...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, I...	OMIM:233710
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Atelectasis, Lymphadenitis, Recurrent pneumonia, Splenomegaly, Lymph...	OMIM:306400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, High, narrow palate, Downturned corners of mouth, Atrial septal defect, Hy...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, High, narrow palate, Downturned corners of mouth, Atrial septal defect, Hy...	ORPHA:352665
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Impotence, Cardiomegaly, Pulmonary edema	OMIM:105210
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca...	OMIM:300257
Lacrimoauriculodentodigital Syndrome	Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo...	ORPHA:2363
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Gingi...	ORPHA:33226
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Preax...	OMIM:210710
Middle Ear Neuroendocrine Tumor	Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor	ORPHA:100084
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, I...	OMIM:233690
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype...	ORPHA:29073
Kinsship Syndrome	Mandibular prognathia, Thin upper lip vermilion, Single transverse palmar crease, Coxa valga, Mic...	OMIM:619297
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Pneumonia, Elevated circulating C-reactive protein concent...	OMIM:619381
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni...	OMIM:600802
Bardet-Biedl Syndrome 12	Postaxial hand polydactyly, Hydrometrocolpos, Postaxial foot polydactyly, Hypogonadism, Polydacty...	OMIM:615989
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Ventricular septal defect, Broad hallux, Hamartoma of tongue, Mic...	OMIM:615948
Melkersson-Rosenthal Syndrome	Macroglossia, Furrowed tongue, Cheilitis, Lymphadenopathy	ORPHA:2483
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy...	ORPHA:31150
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Pneumothorax, Abnormality of the lymphatic system,...	ORPHA:538
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recurrent pneumo...	OMIM:617718
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micromelia, Aplastic clavicle, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongu...	OMIM:616546
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Faciocardiomelic Syndrome	Micrognathia, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis...	OMIM:612731
Congenital Tracheomalacia	Ventricular septal defect, Pneumonia, Cardiomegaly, Pneumothorax, Partial anomalous pulmonary ven...	ORPHA:95430
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly	OMIM:614473
Hyper-Igd Syndrome	Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatosplen...	OMIM:260920
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Palmar pits, Narr...	ORPHA:77301
Pancreatoblastoma	Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph node morphology	ORPHA:677
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Constricting Bands, Congenital	Syndactyly, Cleft upper lip, Abnormal lung lobation, Cleft palate, Hand polydactyly, Talipes equi...	OMIM:217100
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Hypospadias, Anterior pituitary hypoplasia, Ventricular septal def...	ORPHA:464306
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Macrodactyly, Hand oligodactyly, Hand polydactyly, Lymphangioma	OMIM:149000
Fucosidosis	Hepatomegaly, Abnormality of the dentition, Hypothyroidism, Cardiomegaly	ORPHA:349
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso...	OMIM:149730
Papa Syndrome	Type I diabetes mellitus, Lymphadenopathy	ORPHA:69126
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating alpha-fetoprotein conce...	ORPHA:100085
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Hepatomegaly, Adrenocortical cytomegaly, Elevated circulating alpha-fetopr...	ORPHA:116
Microphthalmia, Syndromic 6	Small scrotum, Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, High palate, Cl...	OMIM:607932
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:614162
Peters-Plus Syndrome	Hypoplasia of the vagina, Short lingual frenulum, Bilobate gallbladder, Single transverse palmar ...	OMIM:261540
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy, Pleuritis	OMIM:142680
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Recurrent aphthous stomatitis, Lymphadenopathy	ORPHA:343
Familial Mediterranean Fever	Pericarditis, Orchitis, Splenomegaly, Lymphadenopathy, Pleuritis, Oral leukoplakia	ORPHA:342
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Dif...	ORPHA:99827
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Arachnodactyly, Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Pneumothorax, Retrognathia	ORPHA:91387
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, In...	ORPHA:100080
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Recurrent respiratory infections, Hepatomegaly, Abnormal mitochondrial sh...	ORPHA:17
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, High palate, Atrial septal defect, Phocomelia, Wrist flexion contr...	OMIM:268300
Riddle Syndrome	Generalized lymphadenopathy, Pneumonia, Bronchitis, Elevated circulating alpha-fetoprotein concen...	ORPHA:420741
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum a...	ORPHA:1329
Okamoto Syndrome	Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal defect, Bifid ut...	ORPHA:2729
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Micrognathia, Cleft lip, Cleft palate, Submucous cleft of soft and hard...	OMIM:301022
Behçet Disease	Pericarditis, Orchitis, Splenomegaly, Oral ulcer, Endocarditis, Lymphadenopathy, Recurrent aphtho...	ORPHA:117
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Pericarditis, Elevated circulating creatine kinase concentration, H...	ORPHA:99826
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Cardiomegaly, Recurrent pneumonia, Bronchiectasis, Abnormal hea...	ORPHA:980
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Cardiomegaly, Cryptorc...	OMIM:130650
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Prim...	OMIM:619534
Cerebrooculonasal Syndrome	Postaxial polydactyly, Postaxial hand polydactyly, Narrow palate, Cleft palate, Downturned corner...	OMIM:605627
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Respiratory tract...	ORPHA:365
Choanal Atresia	Recurrent respiratory infections, Chronic sinusitis, Polydactyly	ORPHA:137914
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Ovarian neoplasm, Mitral valve prolapse,...	ORPHA:137605
Kawasaki Disease	Glossitis, Pericarditis, Abnormal heart valve morphology, Recurrent pharyngitis, Leukocytosis, Ce...	ORPHA:2331
Meige Disease	Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center	ORPHA:90186
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Congenital hip dislocation, Abnormal periodontium morphology, High palate, Atrial septal defect, ...	ORPHA:480880
Steinert Myotonic Dystrophy	Tented upper lip vermilion, Decreased response to growth hormone stimulation test, Non-medullary ...	ORPHA:273
Senior-Loken Syndrome 8	Pancreatic cysts, Polydactyly	OMIM:616307
Malt Lymphoma	Recurrent respiratory infections, Abnormality of the thyroid gland, Mediastinal lymphadenopathy, ...	ORPHA:52417
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, In...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, In...	ORPHA:100082
Multiple Endocrine Neoplasia Type 2	Paraganglioma of head and neck, Cervical neoplasm, Hypercalcemia, Thyroid C cell hyperplasia, Cer...	ORPHA:653
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Myocarditis, Abno...	ORPHA:221
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Pneumonia, Pericardial...	OMIM:615846
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Mandibular prognathia, Bicuspid aortic valve, Dental crowding, Asplenia, Cleft har...	ORPHA:261537
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer	ORPHA:79140
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Diabetes mellitus, Lymphadenopathy, Hepatosplenomegaly, Ovarian carcin...	ORPHA:1333
Loeys-Dietz Syndrome 2	Atrial septal defect, Syndactyly, Bicuspid aortic valve, Spontaneous pneumothorax, Arachnodactyly...	OMIM:610168
Carney Triad	Mediastinal lymphadenopathy, Adrenal overactivity, Lymphadenopathy, Adrenocortical adenoma, Pheoc...	ORPHA:139411
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cleft palate, Polycystic ovaries, Pulmonar...	ORPHA:137675
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, In...	ORPHA:100075
Neurocardiofaciodigital Syndrome	Syndactyly, Retrognathia, Double inlet left ventricle, Thin vermilion border, Polydactyly, High p...	OMIM:619869
Arterial Calcification, Generalized, Of Infancy, 1	Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Klatskin Tumor	Hepatomegaly, Lymphadenopathy	ORPHA:99978
Primary Sjögren Syndrome	Normocytic anemia, Vaginal dryness, Parotitis, Lymphocytic interstitial pneumonia, Bronchitis, Th...	ORPHA:289390
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Malakoplakia	Abnormality of the menstrual cycle, Orchitis, Follicular hyperplasia, Abnormality of the tongue, ...	ORPHA:556
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Cardiomegaly	OMIM:619259
Joubert Syndrome 39	Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Aicardi-Goutières Syndrome	Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia...	ORPHA:51
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Lymphadenopathy, Iron deficiency anemia, Small intestine carcinoid, Pulmonic ...	ORPHA:100078
Microphthalmia, Syndromic 1	Syndactyly, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Hypospadias, Down-sloping sho...	OMIM:309800
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Generalized lymphadenopathy	OMIM:620232
Leptospirosis	Hepatomegaly, Pericarditis, Lymphadenopathy, Hyperproteinemia, Pleural effusion, Thrombocytopenia...	ORPHA:509
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Chronic noninfectious lymphadenopathy, Tricuspid stenosis, Ovarian neoplasm, Adreno...	ORPHA:100079
Congenital Total Pulmonary Venous Return Anomaly	Recurrent respiratory infections, Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect...	ORPHA:99125
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right atrial enlargement, Pleural effusion, Atrial septal dilatation,...	ORPHA:1677
Blau Syndrome	Pericarditis, Camptodactyly of finger, Splenomegaly, Lymphadenopathy, Abnormal salivary gland mor...	ORPHA:90340
Systemic Lupus Erythematosus	Hemolytic anemia, Oral ulcer, Cheilitis, Lymphadenopathy, Abnormal pigmentation of the oral mucos...	ORPHA:536
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Thick vermilion border, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of parotid gland, Nodular goi...	ORPHA:79078
Plague	Hepatomegaly, Chapped lip, Lymphadenitis, Splenomegaly, Abnormality of the elbow, Endocarditis, E...	ORPHA:707
Vater/Vacterl Association	Syndactyly, Ventricular septal defect, Hypospadias, Absent radius, Short thumb, Hypoplasia of the...	OMIM:192350
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Adrenal calcification, Cardiomegaly, Pericardial effusion, Myocardial ca...	ORPHA:51608
African Trypanosomiasis	Hepatomegaly, Pericarditis, Abnormality of the menstrual cycle, Abnormality of the endocrine syst...	ORPHA:3385
Adenocarcinoma Of The Anal Canal	Neoplasm of the lung, Lymphadenopathy	ORPHA:424016
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Chikungunya	Cervical lymphadenopathy, Gingival bleeding, Lymphadenopathy	ORPHA:324625

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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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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X-ray

Human diseases caused by Tyro3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data