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Gene: Atp1a1 MGI:88105

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Gene Summary

Name:
ATPase, Na+/K+ transporting, alpha 1 polypeptide
Synonyms:
Atpa-1

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
abnormal thymus morphology Atp1a1em1(IMPC)Ccpcz HET Early adult 0.00
abnormal spleen morphology Atp1a1em1(IMPC)Ccpcz HET Early adult 0.00
enlarged thymus Atp1a1em1(IMPC)Ccpcz HET Early adult 0.00
abnormal skeletal muscle morphology Atp1a1em1(IMPC)Ccpcz HET Early adult 0.00
enlarged lymph nodes Atp1a1em1(IMPC)Ccpcz HET Early adult 0.00
abnormal skin morphology Atp1a1em1(IMPC)Ccpcz HET Early adult 0.00
abnormal uterus morphology Atp1a1em1(IMPC)Ccpcz HET Early adult 0.00
abnormal heart morphology Atp1a1em1(IMPC)Ccpcz HET Early adult 0.00
abnormal caudal vertebrae morphology Atp1a1em1(IMPC)Ccpcz HET   Early adult 1.43×10-05
thick ventricular wall Atp1a1em1(IMPC)Ccpcz HET Early adult 7.45×10-07
preweaning lethality, complete penetrance Atp1a1em1(IMPC)Ccpcz HOM   Early adult 0.00
increased heart left ventricle size Atp1a1em1(IMPC)Ccpcz HET Early adult 6.31×10-05
abnormal lymph node morphology Atp1a1em1(IMPC)Ccpcz HET Early adult 0.00
enlarged heart Atp1a1em1(IMPC)Ccpcz HET Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Skull Dorso Ventral Orientation

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Hind Leg and Hip

30 Images

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X-ray

XRay Images Forepaw

15 Images

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Human diseases caused by Atp1a1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Atp1a1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Steppage gait OMIM:618036
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Self-biting OMIM:618314
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
ORPHA:564178

The table below shows human diseases predicted to be associated to Atp1a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Panic Disorder 1
Anxiety OMIM:167870
Intellectual Developmental Disorder, Autosomal Recessive 25
Anxiety OMIM:614346
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Familial Alzheimer-Like Prion Disease
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Emotional lab... ORPHA:280397
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Geniospasm 1
Anxiety OMIM:190100
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Chorea, Benign Hereditary
Anxiety OMIM:118700
Ethanolaminosis
Cardiomegaly OMIM:227150
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Basal Ganglia Calcification, Idiopathic, 5
Apathy, Cognitive impairment, Depression, Anxiety, Dementia OMIM:615483
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Myoclonus-Dystonia Syndrome
Depression, Personality disorder, Anxiety, Panic attack ORPHA:36899
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Motor deterioration, Inertia, Frontot... ORPHA:412066
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Gait imbalance, Akinesia, Freezing of gait, Loss of ambulation, Falls, Unsteady gait, Short stepp... ORPHA:240094
Kerion Celsi
Lymphadenopathy ORPHA:499
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Childhood Disintegrative Disorder
Social and occupational deterioration, Progressive language deterioration, Abnormal emotion/affec... ORPHA:168782
Huntington Disease-Like 2
Apathy, Depression, Anxiety, Irritability, Dementia OMIM:606438
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... OMIM:610600
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... ORPHA:543
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Congenital Toxoplasmosis
Hepatomegaly, Thrombocytopenia, Anemia, Lymphadenopathy, Jaundice, Cardiomegaly ORPHA:858
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis, Cardiomegaly, Macroorchidism OMIM:300886
Spinocerebellar Ataxia Type 27
Akinesia, Limb ataxia, Truncal ataxia, Gait disturbance, Difficulty walking, Gait ataxia ORPHA:98764
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Late-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circulating co... ORPHA:556037
Roifman Syndrome
Irregular vertebral endplates, Hip contracture, Hepatomegaly, Splenomegaly, Biconvex vertebral bo... OMIM:616651
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... OMIM:602450
Follicular Lymphoma
Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormality of the lymph nodes ORPHA:97290
Early-Onset Familial Hypoaldosteronism
Decreased circulating aldosterone level, Elevated serum 11-deoxycortisol, Abnormal circulating co... ORPHA:556030
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Abnormal salivary gland morphology ORPHA:482
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormality of the lymph nodes ORPHA:319487
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hypertrophy, Cardiom... OMIM:252920
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Bone-marrow foam cells, Skeletal muscle atrop... OMIM:256550
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C... OMIM:300853
Roifman Syndrome
Hip contracture, Hypogonadotropic hypogonadism, Eosinophilia, Hepatosplenomegaly, Biconvex verteb... ORPHA:353298
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myopathy OMIM:617713
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... OMIM:618534
Lethal Congenital Contracture Syndrome 10
Torticollis, Thoracic scoliosis, Hypoplasia of the thymus, Short neck, Ventricular septal defect,... OMIM:617022
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:269920
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100025
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells, Increased B cell count OMIM:618982
Attrv122I Amyloidosis
Spinal canal stenosis, Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Restrictive ca... ORPHA:85451
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, Absence of lymph node germinal center, T lymp... OMIM:619924
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... OMIM:615559
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hepatoc... OMIM:235200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy OMIM:613101
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... OMIM:614470
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Progressive cerebellar ataxia ORPHA:98773
Charcot-Marie-Tooth Disease, Axonal, Type 2Dd
Steppage gait OMIM:618036
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Abnormality of the lymph nodes, Extramedullary hematopoiesis, Splenom... OMIM:612840
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia OMIM:618987
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... OMIM:619846
Parkinson Disease 17
Akinesia OMIM:614203
Early-Onset Schizophrenia
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... ORPHA:96369
Atypical Juvenile Parkinsonism
Akinesia, Inability to walk, Shuffling gait, Gait ataxia, Short stepped shuffling gait ORPHA:391411
Cold Agglutinin Disease
Hepatomegaly, Back pain, Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating gonadotropin level, Decreased circulating aldosterone level, Precocious pub... ORPHA:90793
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Isolated Anencephaly
Thymus hyperplasia, Congenital diaphragmatic hernia ORPHA:563609
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Reduced muscle carnitine level, Endocardial fibroelastosis, Decreased carnitine lev... OMIM:212140
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Meacham Syndrome
Abnormal vagina morphology, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve... ORPHA:3097
Fucosidosis
Lumbar hyperlordosis, Hepatomegaly, Vacuolated lymphocytes, Flexion contracture, Splenomegaly, Ma... OMIM:230000
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess ORPHA:100083
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Hepatomegaly, Cervical lymphadenopathy, Hypergonadotropic hypogona... OMIM:602782
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Pseudo-Torch Syndrome 3
Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Anemia, Cardiomegaly OMIM:618886
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy ORPHA:37748
Lymphoproliferative Syndrome 1
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ... OMIM:613011
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Flexion contracture, Splenomegaly, Myositis, Autoimmune hemolytic anemia, Lymphaden... OMIM:619183
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly OMIM:240500
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the lymph nodes, Abnormality of the lymphatic system, Abnormality of... ORPHA:54251
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Short neck, Platyspondyly, Ovoid... OMIM:239850
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:2584
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Cardiac-Urogenital Syndrome
Enlarged kidney, Ventricular septal defect, Ambiguous genitalia, Unilateral cryptorchidism, Hepat... OMIM:618280
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center, T lymphocytopenia, Absent ... ORPHA:277
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Mediastinal lymphadenopathy, Testicular... ORPHA:83469
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center OMIM:608184
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Kyphoscoliosis, Aortic valve stenosis, Mitral valve prolapse, Contractures of the large joints, A... ORPHA:324410
Immunodeficiency 54
Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadenopathy, Reduced natural ... OMIM:609981
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Bilateral cryptorchidism, ... OMIM:618652
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat... OMIM:150550
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Familial Atrial Myxoma
Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Jaundice, Cardiomegaly, Cardiac myxoma ORPHA:615
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Danon Disease
Myocardial fibrosis, Myocardial necrosis, EMG: myopathic abnormalities, Dilated cardiomyopathy, G... OMIM:300257
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... OMIM:615122
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Ovarian neoplasm, Macroglossia ORPHA:2221
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Atrial septal defect, Bicornuate uterus, Multilobulated spleen, Congeni... OMIM:601186
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Decreased muscle mass, Splenomegaly, Cirrho... ORPHA:465508
Leishmaniasis
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Pancyto... ORPHA:507
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Myopathy, Lymphadenopathy OMIM:612783
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... ORPHA:168563
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphadenitis, Scoliosis, Cholestasis, Dilated cardiomy... OMIM:615895
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulminant hepatitis, Ap... OMIM:308240
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy ORPHA:3386
Spinocerebellar Ataxia 21
Akinesia, Ataxia, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia OMIM:607454
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Cardiom... OMIM:603903
Myopathy, Congenital, With Respiratory Insufficiency And Bone Fractures
Akinesia OMIM:618822
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Skeletal muscle atrophy ORPHA:3162
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Microcytic anemia, Bone-marrow foam cells, Pr... OMIM:257200
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice ORPHA:79477
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:391
Heme Oxygenase 1 Deficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Throm... OMIM:614034
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... ORPHA:3226
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... ORPHA:824
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Short neck, Scoliosis, Microcytic anemia, Lymphadenopathy OMIM:619750
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymphopenia, Hepatomegaly, Jaundice, Abnormally low T cell... ORPHA:276
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Muscular edema, Spinal rigidity, Right ventricular hypertrophy, Proximal muscle weakness in lower... ORPHA:268
Leydig Cell Hypoplasia
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... ORPHA:755
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Akinesia, Freezing of gait OMIM:619911
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... OMIM:306955
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Myocarditis, Generalized lymphadenopathy,... ORPHA:829
Lissencephaly Type Iii And Bone Dysplasia
Akinesia OMIM:601160
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy, Pericardial effusion ORPHA:411703
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Elevated circulating l... OMIM:273250
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormality of the peritoneum ORPHA:26790
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Cinca Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:607115
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
Tularemia
Leukocytosis, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal l... ORPHA:3392
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Abnormality of the lymph nodes, Lymphadenitis, Eosinophilia, Hepatosplenomegaly, A... ORPHA:911
Felty Syndrome
Hepatomegaly, Splenomegaly, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Neutropenia... ORPHA:47612
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly OMIM:600649
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Fucosidosis
Kyphosis, Hepatomegaly, Anterior beaking of lumbar vertebrae, Abnormality of the gallbladder, Dec... ORPHA:349
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Alpha-N-Acetylgalactosaminidase Deficiency
Scoliosis, Cardiomegaly ORPHA:3137
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber atrophy, Type 1 muscle fiber atrophy, Thymus hyperplasia, Congenital contract... OMIM:619036
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... ORPHA:381
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, B... OMIM:301078
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly, Distal arthrogryposis, Hepatic steatosis, Skeletal muscle atrophy, My... ORPHA:42
Anaplastic Thyroid Carcinoma
Nodular goiter, Goiter, Lymphadenopathy, Abnormal skeletal muscle morphology ORPHA:142
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Iron deficiency anemia ORPHA:99931
Legionnaires Disease
Lymphopenia, Pancreatitis, Splenomegaly, Endocarditis, Myocarditis, Hepatitis, Bone marrow hypoce... ORPHA:549
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Corticobasal Syndrome
Gait disturbance, Akinesia ORPHA:454887
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, My... OMIM:115197
Scrub Typhus
Lymphadenopathy, Myocarditis, Splenomegaly ORPHA:83317
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pericardial constriction OMIM:253250
Pigmented Nodular Adrenocortical Disease, Primary, 1
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... OMIM:610489
Rhabdoid Tumor
Anemia, Lymphadenopathy, Neoplasm of the liver, Thrombocytopenia ORPHA:69077
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Micropenis, Hypospadias, Short neck, Platyspondyly, Ventricular septal defec... OMIM:616897
Mogs-Cdg
Hydrocele testis, Thoracic scoliosis, Atrial septal defect, Hepatomegaly, External genital hypopl... ORPHA:79330
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Amed Syndrome, Digenic
Hypoplasia of the uterus, Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acut... OMIM:619151
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Facial palsy ORPHA:100084
Klatskin Tumor
Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Lymphadenopathy, Jaundice ORPHA:99978
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Lymphadenitis, Hemolytic an... OMIM:618935
Arthrogryposis Multiplex Congenita 6
Akinesia OMIM:619334
Familial Pancreatic Carcinoma
Exocrine pancreatic insufficiency, Neoplasm of the liver, Back pain, Extrahepatic cholestasis, He... ORPHA:1333
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Abnormality of the lymph nodes, Hepatosplenomegaly, Oligospermia, Hypogonadism, Myo... ORPHA:85450
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... ORPHA:100026
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Splenomegaly, Hemolytic anemia, Thrombocytopenia, Myopathy, Lymphadenopathy ORPHA:169090
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Exercise-induced rhabdomyolysis, Hype... OMIM:201475
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Autoimmune throm... OMIM:613179
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Dec... OMIM:614837
Agammaglobulinemia, X-Linked
Prostatitis, Cor pulmonale, Enteroviral hepatitis, Hepatocellular carcinoma, B lymphocytopenia, T... OMIM:300755
Glycogen Storage Disease Ii
Increased muscle glycogen content, Hepatomegaly, Macroglossia, Splenomegaly, Limb muscle weakness... OMIM:232300
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Abnormal heart valve morphology, Lymphadenopathy, Pericardial effusion ORPHA:36412
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Sandhoff Disease
Hepatomegaly, Macroglossia, Hepatosplenomegaly, Skeletal muscle atrophy, Cardiomegaly OMIM:268800
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Dysplastic sacrum, Severe platyspondyly, Short neck, Cardiomegaly OMIM:613320
Mixed Connective Tissue Disease
Hepatomegaly, Splenomegaly, Leukopenia, Mediastinal lymphadenopathy, Myositis, Myocarditis, Hemol... ORPHA:809
Castleman Disease
Decreased mean corpuscular volume, Restrictive cardiomyopathy, Follicular hyperplasia, Mediastina... ORPHA:160
Complete Androgen Insensitivity Syndrome
Blind vagina, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... ORPHA:99429
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy, Myositis ORPHA:69126
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia, ... OMIM:619644
Lethal Congenital Contracture Syndrome 2
Akinesia OMIM:607598
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Pheochromocytoma, Nodular goiter, Lymphadenopathy, Abnormal liver pa... ORPHA:1332
Thrombocytopenia-Absent Radius Syndrome
Abnormal cardiac septum morphology, Scoliosis, Tetralogy of Fallot, Fused cervical vertebrae, Apl... ORPHA:3320
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Lymphadenopa... ORPHA:79456
Omenn Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia, L... ORPHA:39041
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... ORPHA:2041
Refsum Disease, Classic
Limb muscle weakness, Cardiomyopathy, Cardiomegaly OMIM:266500
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Small hypothenar eminence, Abnormality of the thymus, Thenar muscl... ORPHA:2463
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Akinesia OMIM:225790
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia... OMIM:616100
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Leukocytosis, Pancytopenia, Cryptorchidism, Lymphadenopathy, A... ORPHA:99812
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Macrophage Activation Syndrome
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Hepatitis, Abnormal ... ORPHA:158061
Poems Syndrome
Polycythemia, Increased circulating prolactin concentration, Thrombocytosis, Visceromegaly, Scler... ORPHA:2905
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Orchitis, Leukocytosis, Splenomegaly, Peritonitis, Myositis, Abnormal myocardium morphology, Peri... ORPHA:32960
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Elevated circulat... ORPHA:90797
Cinca Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Abnormal granulocyte morphology, Abnormality of neutrop... ORPHA:1451
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pituitary adenoma, Primary hyperparathyroidism, Chronic noninfectiou... ORPHA:97289
Q Fever
Hepatomegaly, Splenomegaly, Anemia, Hepatosplenomegaly, Endocarditis, Myocarditis, Thrombocytopen... ORPHA:781
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Microvesicular hepati... OMIM:619418
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Akinesia, Ataxia, Dysdiadochokinesis, Shuffling gait, Gait ataxia ORPHA:247234
Cantú Syndrome
Platyspondyly, Short neck, Ovoid vertebral bodies, Cuboid-shaped vertebral bodies, Abnormal heart... ORPHA:1517
Cyclic Neutropenia
Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonitis, Thrombocytopenia, Cycl... ORPHA:2686
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased serum testosterone concentration, Decreased circulating androgen concentration, Hypergo... ORPHA:90796
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Lymphadenitis, He... OMIM:618986
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Hepatomegaly, Flexion contracture, Splenomegaly, Myositis, Anemia, Thrombocytopenia,... OMIM:617591
Proteasome-Associated Autoinflammatory Syndrome 2
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytope... OMIM:618048
Tangier Disease
Facial diplegia, Chronic noninfectious lymphadenopathy, Left ventricular hypertrophy, Hepatosplen... ORPHA:31150
Carnitine Palmitoyltransferase I Deficiency
Hepatic steatosis, Hepatomegaly, Cardiomegaly OMIM:255120
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Thyroid Lymphoma
Goiter, Lymphadenopathy ORPHA:97285
Kufor-Rakeb Syndrome
Gait disturbance, Akinesia, Ataxia OMIM:606693
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented micronodula... OMIM:610475
Myopathy, Congenital, Compton-North
Akinesia OMIM:612540
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Cli... OMIM:612964
Manganese Poisoning
Gait disturbance, Akinesia ORPHA:306682
Kaposi Sarcoma
Generalized lymphadenopathy, Abnormality of the spleen, Abnormality of the liver ORPHA:33276
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Pagod Syndrome
Hypoplastic left heart, Congenital diaphragmatic hernia, Agonadism, Abnormality of the spleen, Si... ORPHA:991
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Decreased circulating cortisol level, Elevated circ... ORPHA:95699
Melkersson-Rosenthal Syndrome
Facial palsy, Lymphadenopathy, Macroglossia ORPHA:2483
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia ORPHA:83313
Chediak-Higashi Syndrome
Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutr... OMIM:214500
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy ORPHA:654
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Macroglossia, Scoliosis, Vent... ORPHA:363705
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita, Anemia, Throm... OMIM:608013
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... OMIM:618278
Perry Syndrome
Akinesia, Short stepped shuffling gait OMIM:168605
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Biventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myopathy OMIM:261740
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Leukopenia, Myositis, Thrombocytopenia, Microangiopathic hemolytic anemia, Lymphaden... ORPHA:93552
Classic Progressive Supranuclear Palsy Syndrome
Gait imbalance, Akinesia, Falls ORPHA:240071
Mucolipidosis Ii Alpha/Beta
Diastasis recti, Hepatomegaly, Atlantoaxial dislocation, Macroglossia, Splenomegaly, Lower thorac... OMIM:252500
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral segmentation defect, Hypoplasia of the vagina, Abnormal sacrum morphology, Abnormal for... ORPHA:3109
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia, Par... ORPHA:2237
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Enlarged tonsils, Splenomegaly, Cirrhosis, Chronic hepatitis, Sclerosing cholangiti... OMIM:308230
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, Hepatomegaly ORPHA:100080
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Aceruloplasminemia
Akinesia, Ataxia, Limb ataxia, Gait ataxia, Diabetes mellitus ORPHA:48818
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... ORPHA:98849
Craniofaciofrontodigital Syndrome
Hypoplastic vertebral bodies, Short neck, Cardiomegaly, Abnormal heart morphology OMIM:114620
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy, Pericardial effusion ORPHA:79126
Periodic Fever, Familial, Autosomal Dominant
Cervical lymphadenopathy, Hepatomegaly, Hepatic amyloidosis, Myositis OMIM:142680
Beck-Fahrner Syndrome
Ventricular septal defect, Facial hypotonia, Cardiomegaly OMIM:618798
Mevalonic Aciduria
Fluctuating hepatomegaly, Kyphoscoliosis, Leukocytosis, Fluctuating splenomegaly, Normocytic hypo... OMIM:610377
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, He... OMIM:304790
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Aut... OMIM:606367
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutro... ORPHA:540
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, Myocarditis, B lymphocytopenia, Incr... ORPHA:2442
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Cirrhosis, Left atrial enla... ORPHA:57777
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia, Myocarditis, Hepatitis, Lymphadenopathy ORPHA:139402
Pulmonary Capillary Hemangiomatosis
Lymphadenopathy, Mediastinal lymphadenopathy, Pericardial effusion ORPHA:199241
Developmental And Epileptic Encephalopathy 95
Multiple joint contractures, Hepatomegaly, Macroglossia, Scoliosis, Arthrogryposis multiplex cong... OMIM:618143
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Ventricular septal defect, R... OMIM:614921
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocytopenia, Pancy... ORPHA:79124
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Micropenis, Hypospadias, Vaginal neoplasm, Abnormality of the uterus, A... ORPHA:1916
Kikuchi-Fujimoto Disease
Hepatomegaly, Lymphocytosis, Splenomegaly, Cervical lymphadenopathy, Abnormality of the lymph nod... ORPHA:50918
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy OMIM:617718
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Supernumerary vertebrae, Hemivertebrae, Block verteb... OMIM:271520
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Leukopenia, Follicular hyperplasia, Myositis, Thrombocytosis, Anemia, Skeletal muscl... OMIM:615934
Spondyloenchondrodysplasia With Immune Dysregulation
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Lymphopenia, Increased inter... OMIM:607944
Truncus Arteriosus
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Hypoplasia of the thymus,... ORPHA:3384
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Hypothyroidism, Akinesia OMIM:619147
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Increased hepatic glycogen content, Limb muscle weakness, Cardiomyopathy, Cardiomegaly OMIM:619259
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Thrombocytopenia, Generalized lymph... OMIM:614700
Graft Versus Host Disease
Hemophagocytosis, Dupuytren contracture, Chronic hepatitis, Hepatosplenomegaly, Myositis, Skeleta... ORPHA:39812
Multiple Pterygium Syndrome, Lethal Type
Akinesia OMIM:253290
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Hyperlordosis, Abnormality of the uterus, Abno... ORPHA:3130
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Lymphadenopathy, Hepatomegaly ORPHA:343
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... ORPHA:514
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, P... OMIM:603553
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
Fetal Akinesia Deformation Sequence
Akinesia ORPHA:994
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Hepatomegaly, Flexion contracture, Splenomegaly, Recurrent tons... ORPHA:581
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hemophagocytosis, Splenomegaly, Leukopenia, Thrombocytopenia, Anemia, Lymphadenopat... OMIM:267700
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Dec... OMIM:614841
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Neuroendocrine Tumor Of The Rectum
Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, Hepatomegaly ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, Hepatomegaly ORPHA:100082
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Splenomegaly, Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Impair... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Splenomegaly, Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Impair... OMIM:233710
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Bronchial Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentration, Abnorma... ORPHA:97287
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Hy... ORPHA:189427
Lymphatic Filariasis
Hydrocele testis, Orchitis, Urethral obstruction, Abnormality of the scrotum, Lymphadenitis, Abno... ORPHA:2035
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Left ventricular hy... OMIM:245600
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Hepatomegaly, Macroglossia, Ventricular septal defect, Labial hypertrophy, Cr... ORPHA:96191
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Hepatic necrosis, Myopathy ORPHA:100093
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Hepatomegaly, Hepatic calcification, Macrovesicular hepatic st... OMIM:608836
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphopenia, Hepatomegaly, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocyt... OMIM:615688
Ovarian Dysgenesis 2
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary OMIM:300510
Meckel Syndrome 14
Single ventricle, Short neck, Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus OMIM:619879
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Macroglossia, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Facial hyp... ORPHA:308552
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia OMIM:616840
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Splenomegaly, Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Impair... OMIM:233690
Brucellosis
Abnormality of the liver, Orchitis, Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Leukopenia,... ORPHA:1304
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Abnormality of the vertebral column, Bicornuate uterus OMIM:601076
H Syndrome
Histiocytosis, Micropenis, Hepatosplenomegaly, Enlarged kidney, Camptodactyly, Microcytic anemia,... ORPHA:168569
Complete Atrioventricular Septal Defect
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... ORPHA:1329
Autosomal Dominant Cerebellar Ataxia
Gait disturbance, Akinesia, Choreoathetosis, Progressive cerebellar ataxia ORPHA:99
Postencephalitic Parkinsonism
Akinesia ORPHA:97349
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hypospadias, Bifid uterus, Accessory spleen, Adrenal gland dysgenesis... OMIM:236680
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Kyphosis, Kyphoscoliosis, Atrial septal defect, Ri... OMIM:300967
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture of finger, Hepatomegaly, Flexion contracture, Splenomegaly, Macroglossia, Cam... OMIM:256040
Beckwith-Wiedemann Syndrome
Diastasis recti, Hepatomegaly, Hepatoblastoma, Macroglossia, Pancreatic hyperplasia, Enlarged kid... OMIM:130650
Acute Promyelocytic Leukemia
Neutropenia, Leukocytosis, Leukopenia, Thrombocytopenia, Pancytopenia, Anemia, Lymphadenopathy ORPHA:520
Premature Ovarian Failure 6
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:612310
Thrombocytopenia-Absent Radius Syndrome
Atrial septal defect, Leukocytosis, Atrioventricular canal defect, Eosinophilia, Hepatosplenomega... OMIM:274000
Coccidioidomycosis
Pancreatitis, Eosinophilia, Peritonitis, Abnormality of the spleen, Mediastinal lymphadenopathy, ... ORPHA:228123
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary... OMIM:619665
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Adrenocorticotropic hormone e... ORPHA:168558
Pancreatoblastoma
Pancreatic calcification, Jaundice, Abnormality of the lymph nodes ORPHA:677
Farber Disease
Flexion contracture, Hepatosplenomegaly, Hepatic fibrosis, Anemia, Thrombocytopenia, Skeletal mus... ORPHA:333
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Adrenocorticotropic hormone e... ORPHA:289548
Premature Ovarian Failure 18
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary... OMIM:619203
Müllerian Aplasia And Hyperandrogenism
Short neck, Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary ORPHA:247768
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Hyper-Igd Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy OMIM:260920
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Myoectodermal Gonadal Dysgenesis Syndrome
Diastasis recti, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Access... OMIM:618419
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Lymphadenopathy, Neutrophilia, Leukocytosis OMIM:617099
Lymphangioleiomyomatosis
Chylopericardium, Abnormality of the lymphatic system, Abnormal morphology of female internal gen... ORPHA:538
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Abnormal na... ORPHA:167
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Flexion contracture, Macroglossia,... ORPHA:365
Kennerknecht syndrome
Short neck, Thoracolumbar scoliosis, Agonadism, Hypoplasia of the uterus OMIM:600908
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc... ORPHA:3261
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Flexion contracture, Hepatosplenomegaly, Abnormality of the cervical spine, Anemia, Lymphadenopathy ORPHA:85408
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy, Lymphoid leukemia ORPHA:79140
Primary Pigmented Nodular Adrenocortical Disease
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Hy... ORPHA:189439
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Oeis Complex
Labial hypoplasia, Ambiguous genitalia, female, Vesicovaginal fistula, Ambiguous genitalia, male,... OMIM:258040
Abetalipoproteinemia
Kyphoscoliosis, Hepatomegaly, Cirrhosis, Reticulocytosis, Acanthocytosis, Hepatic fibrosis, Myopa... ORPHA:14
Okamoto Syndrome
Abnormal mitral valve morphology, Aortic valve stenosis, Primum atrial septal defect, Splenomegal... ORPHA:2729
Aicardi-Goutières Syndrome
Multiple joint contractures, Neonatal alloimmune thrombocytopenia, Micropenis, Hepatosplenomegaly... ORPHA:51
Duodenal Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased hematocrit, Extrahepatic cholestasis... ORPHA:100076
Ileal Neuroendocrine Tumor
Extrahepatic cholestasis, Tricuspid stenosis, Pulmonic stenosis, Iron deficiency anemia, Lymphade... ORPHA:100078
Jejunal Neuroendocrine Tumor
Extrahepatic cholestasis, Tricuspid stenosis, Pulmonic stenosis, Iron deficiency anemia, Lymphade... ORPHA:100077
Wolf-Hirschhorn Syndrome
Kyphosis, Precocious puberty, Atrial septal defect, Hypospadias, Accessory spleen, Scoliosis, Abn... OMIM:194190
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Female hypogonadism, Hypogonadotro... ORPHA:432
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Lymphopenia, Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Impaired ... OMIM:600802
Idiopathic Hypereosinophilic Syndrome
Pancreatitis, Neutrophilia, Leukocytosis, Splenomegaly, Cervical lymphadenopathy, Myeloproliferat... ORPHA:3260
Common Variable Immunodeficiency
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Lymphadenopathy, Abnorm... ORPHA:1572
Beckwith-Wiedemann Syndrome
Diastasis recti, Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, C... ORPHA:116
Waldenström Macroglobulinemia
Hepatomegaly, Splenomegaly, Normocytic anemia, Abnormality of neutrophils, Leukemia, Lymphadenopathy ORPHA:33226
Carney Triad
Pheochromocytoma, Mediastinal lymphadenopathy, Leiomyosarcoma, Anemia, Lymphadenopathy ORPHA:139411
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Familial Mediterranean Fever
Pancreatitis, Orchitis, Splenomegaly, Peritonitis, Pericarditis, Lymphadenopathy ORPHA:342
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina OMIM:146255
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... OMIM:601214
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hypoplasia of the uterus, Atrial septal defect, Congenital diaphragmatic hernia, Micrope... OMIM:309801
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Scoliosis, Spina bifida occulta, Rectovaginal fistula OMIM:617466
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Decreased circulating aldosterone level, Abnormality of circul... ORPHA:320
Multiple Myeloma
Anemia, Lymphadenopathy, Vertebral compression fracture, Splenomegaly ORPHA:29073
Immunodeficiency 55
Neutropenia, Lymphopenia, Lymphadenopathy, Absent natural killer cells OMIM:617827
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Neuroendocrine Tumor Of Stomach
Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, Hepatomegaly, Ir... ORPHA:100075
Thymic Aplasia
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Aplasia of the thymus, T... ORPHA:83471
Proteus Syndrome
Kyphosis, Lymphangioma, Ovarian neoplasm, Splenomegaly, Neoplasm of the thymus, Testicular neopla... ORPHA:744
Perrault Syndrome 4
Hypoplasia of the uterus, Increased circulating gonadotropin level, Hypoplasia of the ovary, Bico... OMIM:615300
Liver Disease, Severe Congenital
Hydrocele testis, Exocrine pancreatic insufficiency, Hepatomegaly, Ventricular septal defect, Pan... OMIM:619991
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Splenomegaly, Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Impair... OMIM:306400
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Hepatic calcification, Abnormal myocardium morphology, Hepatic steatosis, Cardiomyo... ORPHA:228308
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... OMIM:620066
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Kyphoscoliosis, Parathyroid adenoma, Cervical lymphadenopathy, Primary hyp... ORPHA:653
Hereditary Late-Onset Parkinson Disease
Shuffling gait, Akinesia ORPHA:411602
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Micropenis, Short neck, Aplasia of the uterus, Bone marrow hypocellularity, A... OMIM:614083
Behçet Disease
Orchitis, Pancreatitis, Splenomegaly, Endocarditis, Myositis, Abnormal myocardium morphology, Per... ORPHA:117
Seckel Syndrome 7
Lumbar scoliosis, Hypoplasia of the uterus OMIM:614851
Satoyoshi Syndrome
Hypoplasia of the uterus, Skeletal muscle hypertrophy OMIM:600705
Lumbar Syndrome
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Hypopl... ORPHA:83628
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Ogden Syndrome
Hydrocele testis, Short neck, Enlarged kidney, Ventricular septal defect, Jaundice, Cardiomegaly,... OMIM:300855
Igg4-Related Submandibular Gland Disease
Abnormal pancreas morphology, Sialadenitis, Prostatitis, Eosinophilia, Abnormal salivary gland mo... ORPHA:449432
Primary Hepatic Neuroendocrine Carcinoma
Neoplasm of the liver, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic non... ORPHA:100085
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Hennekam Syndrome
Lymphangioma, Lymphopenia, Splenomegaly, Pulmonary lymphangiectasia, Camptodactyly of finger, Lym... ORPHA:2136
Gallbladder Neuroendocrine Tumor
Extrahepatic cholestasis, Chronic noninfectious lymphadenopathy, Cholecystitis, Biliary tract obs... ORPHA:100086
Bohring-Opitz Syndrome
Cholelithiasis, Abnormal cardiac septum morphology, Annular pancreas, Lower limb hypertonia, Bila... ORPHA:97297
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Cardiomyopathy, Cardiomegaly ORPHA:158687
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Autoimmune thrombocytopenia, ... ORPHA:37042
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... ORPHA:980
Igg4-Related Kidney Disease
Sialadenitis, Pancreatitis, Prostatitis, Urethritis, Eosinophilia, Lymphadenitis, Sclerosing chol... ORPHA:449395
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Splenomegaly, Limb hypertonia, Thrombocytopenia, Hemolytic anemia, Generalized lymp... OMIM:615846
Immunodeficiency 87 And Autoimmunity
Atrial septal defect, Lymphopenia, Hepatomegaly, Atrioventricular canal defect, Cervical lymphade... OMIM:619573
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Diastasis recti, Aplasia/Hypoplasia involving the shoulder musculature, Supernumerary nipple, Bif... ORPHA:1521
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Abnormality of the hepatic vasculature, Hepatomegaly, Right ventricular... ORPHA:1677
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy ORPHA:667
Neuroendocrine Neoplasm Of Appendix
Adrenocorticotropic hormone excess, Ovarian neoplasm, Hepatomegaly, Tricuspid stenosis, Chronic n... ORPHA:100079
Malt Lymphoma
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:52417
Kawasaki Disease
Leukocytosis, Double outlet right ventricle with subpulmonary ventricular septal defect without p... ORPHA:2331
Supranuclear Palsy, Progressive, 2
Gait imbalance, Akinesia, Falls OMIM:609454
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, female, Hypoplasia of the uterus, Hypoplasia of the vagina, Long penis, Cong... OMIM:202010
Arthrogryposis Multiplex Congenita 5
Akinesia OMIM:618947
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Eosinop... ORPHA:75565
Histiocytoid Cardiomyopathy
Ventricular septal defect, Polycystic ovaries, Hepatomegaly, Cardiomegaly ORPHA:137675
Crimean-Congo Hemorrhagic Fever
Orchitis, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Hemoperitoneum, Leukopenia, Par... ORPHA:99827
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... ORPHA:331235
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Increased circulating gonadotropin level, Enlarged polycystic ovaries, ... ORPHA:785
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... ORPHA:95430
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Cardiomegaly OMIM:208000
46,Xy Sex Reversal 4
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... OMIM:154230
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Scoliosis, Cardiomegaly ORPHA:91387
Neu-Laxova Syndrome 1
Joint contracture of the hand, Bifid uterus, Short neck, Camptodactyly, Ventricular septal defect... OMIM:256520
Supranuclear Palsy, Progressive, 1
Gait imbalance, Akinesia, Falls OMIM:601104
Igg4-Related Ophthalmic Disease
Sialadenitis, Orchitis, Pancreatitis, Prostatitis, Abnormality of the extraocular muscles, Eosino... ORPHA:449563
Popliteal Pterygium Syndrome
Hypoplasia of the uterus, Small scrotum, Bifid scrotum, Hypoplasia of the vagina, Spina bifida oc... OMIM:119500
Williams Syndrome
Cholelithiasis, Abnormal cardiac septum morphology, Ventricular septal defect, Polycystic ovaries... ORPHA:904
Marburg Hemorrhagic Fever
Orchitis, Lymphopenia, Pancreatitis, Back pain, Leukopenia, Reticulocytosis, Abnormal lymphocyte ... ORPHA:99826
African Trypanosomiasis
Abnormality of the endocrine system, Akinesia, Abnormal prolactin level, Abnormality of renin-ang... ORPHA:3385
Primary Sjögren Syndrome
Chronic active hepatitis, Lymphopenia, Vaginal dryness, Leukopenia, Chronic hepatitis, Normocytic... ORPHA:289390
Phocomelia, Schinzel Type
Hypoplasia of penis, Short neck, Aplasia/Hypoplasia of the sacrum, Aplasia of the uterus, Cryptor... ORPHA:2879
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormality of the extraocular muscles, Myositis, Abnormal salivary gland morphology, Thrombocyto... ORPHA:79078
Sarcoidosis, Susceptibility To, 1