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Gene: Fubp1 MGI:1196294

Gene Summary

Name:

far upstream element (FUSE) binding protein 1

Synonyms:

FBP, 9530027K12Rik, Fubp4, Fubp

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	Allele	Zyg	Life Stage	P Value
abnormal behavior	Fubp1^em1(IMPC)Mbp	HET	Early adult	8.09×10^-07
abnormal skin morphology	Fubp1^em1(IMPC)Mbp	HET	Early adult	0.00
decreased locomotor activity	Fubp1^em1(IMPC)Mbp	HET	Early adult	3.23×10^-21
abnormal lymph node morphology	Fubp1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal retina morphology	Fubp1^em1(IMPC)Mbp	HET	Early adult	6.55×10^-05
preweaning lethality, complete penetrance	Fubp1^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged lymph nodes	Fubp1^em1(IMPC)Mbp	HET	Early adult	0.00
decreased anxiety-related response	Fubp1^em1(IMPC)Mbp	HET	Early adult	2.05×10^-05
decreased thigmotaxis	Fubp1^em1(IMPC)Mbp	HET	Early adult	7.38×10^-07

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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 Whole Body Dorso Ventral

48 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Fubp1 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 Fubp1 (0 diseases)
Human diseases predicted to be associated with Fubp1 (891 diseases)

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

The table below shows human diseases predicted to be associated to Fubp1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor	ORPHA:46532
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Death in childhood, Reduced left ventricular ejection fraction, Hypertr...	OMIM:614096
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mantle Cell Lymphoma	Anorexia, Splenomegaly, Lymphadenopathy	ORPHA:52416
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Mitochondrial Complex I Deficiency, Nuclear Type 35	Redundant neck skin, Cardiomyopathy, Pulmonary arterial hypertension, Neonatal death, Pulmonary h...	OMIM:619003
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic a...	ORPHA:75564
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Death in childhood, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating I...	OMIM:300400
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Hepatomegaly, Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Lissencephaly Syndrome, Norman-Roberts Type	Patent foramen ovale, Cerebellar atrophy, Hypoplastic spleen, Agenesis of corpus callosum, Intrau...	ORPHA:89844
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Acute Peripheral Arterial Occlusion	Myocardial infarction, Supraventricular tachycardia, Abnormal capillary physiology, Leukocytosis,...	ORPHA:90064
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Situs inversus totalis, Enlarged kidney, Hepatomegaly, Stillbirth, Truncu...	OMIM:615415
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral lung agenesis, Hypoplastic left atrium, Alveolar capillary dyspl...	OMIM:601186
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Cerebellar hypoplasia, Neonatal death, Pulmonary hypoplasia	OMIM:615228
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Death in childhood, Impaired lymphocyte transformation with phytohem...	OMIM:243150
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Mirage Syndrome	Anemia, Petechiae, Adrenal hypoplasia, Aspiration pneumonia, Hypergonadotropic hypogonadism, Shor...	OMIM:617053
Immunodeficiency 52	Defective T cell proliferation, Death in childhood, Lymphadenopathy, Abnormal natural killer cell...	OMIM:617514
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Reticular pattern on pulmonary HRCT, Iron deficiency anemia, Hepatosplenomegaly, He...	ORPHA:99931
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Recurrent respiratory infections, Lympha...	ORPHA:3226
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula...	OMIM:617241
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio...	OMIM:619313
Beta-Thalassemia Intermedia	Decreased liver function, Anemia of inadequate production, Splenomegaly, Hypogonadism, Decreased ...	ORPHA:231222
Beta-Thalassemia	Hepatomegaly, Skin ulcer, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, ...	ORPHA:848
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopath...	OMIM:613561
Reticular Dysgenesis	Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu...	OMIM:267500
Immunodeficiency 76	Death in childhood, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay, Recurren...	OMIM:619164
Primary Myelofibrosis	Purpura, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Petechiae, Leukocyt...	ORPHA:824
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Dandy-Walker malformatio...	ORPHA:3032
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Pulmonary hypoplasia, Cerebellar dysplasia	OMIM:616531
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Cerebellar vermis hypoplasia, P...	OMIM:620642
Leishmaniasis	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Skin ulcer, Increased circ...	ORPHA:507
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval...	ORPHA:60041
Gaucher Disease, Perinatal Lethal	Purpura, Hepatomegaly, Anemia, Petechiae, Neonatal death, Hepatosplenomegaly, Splenomegaly, Throm...	OMIM:608013
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Cryptorchidism, Neonatal death, Pulmonary hypoplasia, Ventricular septal...	OMIM:615524
Pandas	Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Siderobla...	OMIM:615234
Lethal Congenital Contracture Syndrome 11	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:617194
Renal Hypodysplasia/Aplasia 2	Redundant skin, Pulmonary hypoplasia	OMIM:615721
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Megaloblastic anemia, Cardiac arrest, Short stature, Pallor, Paroxysmal...	ORPHA:49827
Coenzyme Q10 Deficiency, Primary, 8	Postnatal growth retardation, Hypertension, Pulmonary hypoplasia, Left ventricular hypertrophy, I...	OMIM:616733
Pyruvate Kinase Deficiency Of Red Cells	Jaundice, Hepatomegaly, Chronic hemolytic anemia, Cholelithiasis, Reduced red cell pyruvate kinas...	OMIM:266200
Dominant Beta-Thalassemia	Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, High-output congestive heart fa...	ORPHA:231226
X-Linked Sideroblastic Anemia	Anemia, Pallor, Elevated circulating hepatic transaminase concentration, Splenomegaly	ORPHA:75563
Beta-Thalassemia Major	Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume...	ORPHA:231214
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	ORPHA:331206
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin, ...	ORPHA:163596
Syndromic Diarrhea	Panhypogammaglobulinemia, Abnormal heart morphology, Splenomegaly, Lymphopenia, Bicuspid aortic v...	ORPHA:84064
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Asplenia, Short stature, Hypoplastic spleen, Epistaxis, Subarachnoid...	OMIM:185070
Trimethylaminuria	Anemia, Hypertension, Recurrent pneumonia, Splenomegaly, Tachycardia, Neutropenia	OMIM:602079
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Pulmonar...	OMIM:612541
Heme Oxygenase 1 Deficiency	Hepatomegaly, Lymphadenopathy, Hypertension, Elevated circulating alanine aminotransferase concen...	OMIM:614034
Kerion Celsi	Lymphadenopathy	ORPHA:499
Hereditary Spherocytosis	Skin ulcer, Hepatomegaly, Jaundice, Cholelithiasis, Anemia, Spontaneous hemolytic crises, Increas...	ORPHA:822
Cutis Laxa, Autosomal Recessive, Type Ic	Death in childhood, Emphysema, Atelectasis, Accessory spleen, Patent foramen ovale, Redundant ski...	OMIM:613177
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Short stature, Cerebellar hypoplasia, Pulmonary hypoplasia	OMIM:618174
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Niemann-Pick Disease, Type B	Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Sea-blue histiocytosis, Bone-ma...	OMIM:607616
Immunodeficiency 102	Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ...	OMIM:301082
Acute Myelomonocytic Leukemia	Anemia, Leukocytosis, Thrombocytopenia, Eosinophilia, Pallor	ORPHA:517
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Short stature, Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the lungs	ORPHA:2204
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypertension, Portal hypertensio...	OMIM:263200
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG, Recurrent respiratory infections, Abnormal T cell count,...	OMIM:613495
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Immunodeficiency 105	Death in childhood, Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B l...	OMIM:619924
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619126
Larsen-Like Syndrome, Lethal Type	Pulmonary insufficiency, Neonatal death, Pulmonary hypoplasia	OMIM:245650
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Patent foramen ovale, Short stature, Bone ...	OMIM:609053
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Stillbirth, Redundant neck skin, Hydranencephaly, Neonatal death, Pulmonary hypoplasia, Cerebella...	OMIM:236500
Pallister-Hall-Like Syndrome	Occipital encephalocele, Chiari type I malformation, Anterior hypopituitarism, Death in infancy, ...	OMIM:241800
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Wiskott-Aldrich Syndrome	Hematemesis, Abnormal platelet function, Epistaxis, Hematochezia, Abnormal platelet morphology, L...	ORPHA:906
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi...	OMIM:269840
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, Pulmonary hypoplasia	OMIM:617468
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:2631
Waldenström Macroglobulinemia	Congestive heart failure, Purpura, Hepatomegaly, Gastrointestinal hemorrhage, Normocytic anemia, ...	ORPHA:33226
Alg3-Cdg	Decreased liver function, Neural tube defect, Abnormality of the endocrine system, Dandy-Walker m...	ORPHA:79321
Immunodeficiency 109 With Lymphoproliferation	Recurrent lower respiratory tract infections, Pancytopenia, Complete or near-complete absence of ...	OMIM:620282
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th...	OMIM:613839
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Splenomegaly, Lymphadenopathy	ORPHA:86893
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Excessive insulin response to glucagon test, Hepatomegaly, Hyperinsulinemia, Diffuse pancreatic i...	ORPHA:276575
Evans Syndrome	Autoimmune hemolytic anemia, Jaundice, Petechiae, Neutropenia in presence of anti-neutropil antib...	ORPHA:1959
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Mesenteric cyst, Chiari type I malformation, Recurrent respiratory infect...	OMIM:618316
Congenital Toxoplasmosis	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Lymphade...	ORPHA:858
Thanatophoric Dysplasia	Disproportionate short-limb short stature, Redundant skin, Pulmonary hypoplasia, Intrauterine gro...	ORPHA:2655
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior	ORPHA:208441
Peroxisome Biogenesis Disorder 2A (Zellweger)	Jaundice, Death in childhood, Hepatomegaly, Intrahepatic biliary dysgenesis, Hypoplasia of the th...	OMIM:214110
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Excessive insulin response to glucagon test, Hepatomegaly, Hyperinsulinemia, Diffuse pancreatic i...	ORPHA:276580
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia, Splenomegaly	ORPHA:3035
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Cerebellar atrophy, Poikilocytosis, S...	OMIM:301310
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Lymphocytosis, Splenomegaly, Neutropenia, Pancytopenia, Va...	OMIM:308240
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Recurrent sinusitis, Splenomegaly, Hepatosplenomegaly, Incr...	OMIM:615559
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emphysema, Hepatoce...	OMIM:613490
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, Pulmonary hypoplasia, Cardiomegaly, Overriding aorta, Ventricular septa...	OMIM:617022
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Splenomegaly, Aplasia/Hypoplasia of the lungs	ORPHA:1046
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Pleural effusion, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly, Cerebellar hyp...	OMIM:616897
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Adrenal hypoplasia, Pulmonary hypoplasia	OMIM:613124
Matthew-Wood Syndrome	Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormal lung m...	ORPHA:2470
Hyperinsulinism Due To Ucp2 Deficiency	Excessive insulin response to glucagon test, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse...	ORPHA:276556
Meacham Syndrome	Congenital alveolar dysplasia, Stillbirth, Enlarged kidney, Transposition of the great arteries, ...	OMIM:608978
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Tachycardia, Chroni...	ORPHA:98849
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor, He...	OMIM:611590
Renal Tubular Dysgenesis	Pulmonary hypoplasia, Tetralogy of Fallot	ORPHA:3033
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Pallor, Hemolytic anemia	ORPHA:56425
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Perimembranous ventricular septal defect, Anemia, Hypertrophic cardio...	OMIM:620135
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Elevated circulating hepatic transaminase concentration, Anemia, Reticulocyt...	ORPHA:300298
Kagami-Ogata Syndrome	Hepatomegaly, Pulmonary arterial hypertension, Pulmonic stenosis, Pulmonary hypoplasia, Splenomeg...	OMIM:608149
Laryngeal Neuroendocrine Tumor	Anorexia, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia	ORPHA:100083
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopenia, Abnormally low T cell receptor e...	OMIM:618986
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma...	ORPHA:699
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, M...	ORPHA:2133
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec...	OMIM:619824
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Decreased circulating an...	ORPHA:397596
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin...	ORPHA:3077
Truncus Arteriosus	Adrenocortical abnormality, Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Intrauter...	ORPHA:3384
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, B lymphocytopenia, Increased circulating IgE level, Lack of T cell funct...	ORPHA:277
Atelosteogenesis, Type Ii	Stillbirth, Pulmonary hypoplasia, Death in infancy	OMIM:256050
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, Mediastinal ly...	OMIM:612387
Tonne-Kalscheuer Syndrome	Short stature, Decreased testicular size, Growth delay, Abnormal heart morphology, Pulmonary hypo...	OMIM:300978
Ethanolaminosis	Cardiomegaly, Death in infancy	OMIM:227150
Marden-Walker Syndrome	Postnatal growth retardation, Inferior cerebellar vermis hypoplasia, Dextrocardia, Dandy-Walker m...	OMIM:248700
Hyperinsulinism Due To Hnf1A Deficiency	Excessive insulin response to glucagon test, Hepatomegaly, Hyperinsulinemia, Maturity-onset diabe...	ORPHA:324575
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Recurrent pneumonia, Abscess, Intermittent thrombocytopenia, ...	OMIM:150550
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Atelectasis, Anencephaly, Periportal fibrosis, Patent foramen ovale, Hypoplastic ni...	OMIM:269860
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Congestive heart failure, Splenomegaly, Tachycardia, Pallor	ORPHA:90037
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Elevated circulating hepatic transaminase concentration, Melena, Increased mean corpuscul...	ORPHA:98870
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal pulmonary interstitial morphology, Anemia, Hemophagocytosis, Lymphadenopathy, Decreased ...	OMIM:613101
Breath-Holding Spells	Pallor, Iron deficiency anemia	OMIM:607578
American Trypanosomiasis	Myocarditis, Congestive heart failure, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegal...	ORPHA:3386
Immunodeficiency 104	Splenomegaly, Lymphadenopathy	OMIM:608971
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Delayed puberty, Growth delay, Hypochromic anemia, Sideroblastic anemia, Microcytic anemia, Hypop...	OMIM:600462
Idiopathic Hypereosinophilic Syndrome	Elevated circulating hepatic transaminase concentration, Portal fibrosis, Myocardial eosinophilic...	ORPHA:3260
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Vitreous hemorrhage, Pancreatitis, Atelectasis, Splenic cyst, Hydranencephaly, Patent foramen ova...	OMIM:620371
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, A...	ORPHA:251380
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina...	OMIM:618534
Immunodeficiency 62	Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib...	OMIM:618459
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Hepatomegaly, Panhypogammaglobulinemia, B lymphocytopenia, Increased circulating IgE l...	OMIM:602450
T-Cell Immunodeficiency With Thymic Aplasia	Reduced delayed hypersensitivity, Emphysema, Lymphopenia, Recurrent bronchopulmonary infections, ...	OMIM:242700
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Congestive heart failure, Jaundice, Chronic lymphatic leukemia, Sple...	ORPHA:90033
Ataxia-Telangiectasia	Delayed puberty, Recurrent lower respiratory tract infections, Recurrent bronchitis, Hypoplasia o...	OMIM:208900
Gracile Bone Dysplasia	Death in infancy, Hypoplastic spleen, Short stature, Asplenia	OMIM:602361
Infantile Sialic Acid Storage Disease	Congestive heart failure, Hepatomegaly, Death in childhood, Vacuolated lymphocytes, Splenomegaly,...	OMIM:269920
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Abnormal heart morphology, Pulmonary hypoplasia, Periportal fibrosis	OMIM:263210
Common Variable Immunodeficiency	Purpura, Pneumonia, Elevated circulating hepatic transaminase concentration, Emphysema, Recurrent...	ORPHA:1572
Immunodeficiency 36 With Lymphoproliferation	Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, B lymphocytopenia, Incr...	OMIM:616005
Congenital Rubella Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormality of the pulmonary artery, Short stature, Type I diabet...	ORPHA:290
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Redundant neck skin, Redundant skin, Premature ventricu...	OMIM:300855
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	B lymphocytopenia, Decreased circulating IgG level, Abnormally low T cell receptor excision circl...	OMIM:618987
Hemochromatosis, Type 2B	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:613313
Bone Marrow Failure Syndrome 4	Anemia, Rhizomelia, Decreased circulating antibody level, Dry skin, Short stature, Bone marrow hy...	OMIM:618116
Pagod Syndrome	Situs inversus totalis, Encephalocele, Meningocele, Abnormal testis morphology, Spina bifida, Dea...	ORPHA:991
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Patent foramen ovale, Pulmonary hypoplasia	OMIM:616867
Immunodeficiency 9	Abnormal natural killer cell count, Hypoplasia of the thymus, Death in infancy, Decreased circula...	OMIM:612782
Myelofibrosis	Purpura, Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Pallor, Extra...	OMIM:254450
1Q41Q42 Microdeletion Syndrome	Hypergonadotropic hypogonadism, Short stature, Growth delay, Hyposegmentation of neutrophil nucle...	ORPHA:250999
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Purpura, Recurrent respiratory infections, Complete or near-comple...	OMIM:613496
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia	ORPHA:2141
Immunodeficiency 18	Defective T cell proliferation, Recurrent respiratory infections, Decreased proportion of CD3-pos...	OMIM:615615
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Scimitar Syndrome	Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Left-to-right shunt, Abnormal heart m...	ORPHA:185
Right Atrial Isomerism	Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia...	OMIM:208530
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Hepatosplenomegaly, Anemia	OMIM:273680
Stormorken-Sjaastad-Langslet Syndrome	Short stature, Purpura, Anemia, Asplenia	ORPHA:3204
Tetrasomy 5P	Postnatal growth retardation, Congestive heart failure, Redundant neck skin, Pulmonary arterial h...	ORPHA:3309
Immunodeficiency 112	Recurrent lower respiratory tract infections, Decreased proportion of gamma-delta T cells, Decrea...	OMIM:620449
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Disproportionate short-limb short stature, Neonatal death, Pulmonary hyp...	OMIM:224410
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Splenomegaly, Abnorm...	ORPHA:100024
Sepsis In Premature Infants	Decreased liver function, Purpura, Hepatomegaly, Jaundice, Anemia, Bradycardia, Petechiae, Hypote...	ORPHA:90051
Rheumatic Fever	Myocarditis, Abnormal aortic valve morphology, Recurrent pharyngitis, Abnormal heart valve morpho...	ORPHA:3099
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Tachycardia, Hyperinsulinemic hypoglycemia, Pallor, Pancreatic islet-cell hyper...	ORPHA:276608
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Recurrent bronc...	OMIM:312863
Primary Pulmonary Hypoplasia	Pneumothorax, Dextrocardia, Secundum atrial septal defect, Pulmonary hypoplasia, Intrauterine gro...	ORPHA:2257
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Sp...	OMIM:615285
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Gastrointestinal hemorrhage, Hypertension, Cholestasis, Biliary hyperplasia, Spl...	ORPHA:731
Greenberg Dysplasia	Abnormal lung lobation, Stillbirth, Large placenta, Hepatomegaly, Rhizomelia, Disproportionate sh...	OMIM:215140
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp...	OMIM:614700
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Scaling skin, Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level,...	OMIM:606367
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Rectal abscess, Peritoneal abscess, Abnormal ductus choledochus morp...	ORPHA:436252
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Pentalogy Of Cantrell	Anencephaly, Encephalocele, Abnormal pericardium morphology, Tetralogy of Fallot, Pulmonary hypop...	ORPHA:1335
Classic Hodgkin Lymphoma	Anorexia, Lymphadenopathy, Bone marrow hypocellularity, Ataxia, Splenomegaly	ORPHA:391
Hemochromatosis, Type 1	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:235200
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Corneal neovascularization, Hypertensive crisis, Splenomegaly, Umbil...	ORPHA:567
Odontochondrodysplasia 1	Mesomelic short stature, Death in infancy, Short stature, Pulmonary hypoplasia, Recurrent respira...	OMIM:184260
Multiple Acyl-Coa Dehydrogenase Deficiency	Jaundice, Hepatomegaly, Hepatic periportal necrosis, Neonatal death, Pulmonary hypoplasia, Hepati...	OMIM:231680
Primary Ciliary Dyskinesia	Situs inversus totalis, Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguu...	ORPHA:244
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Absent isohemagglutinin level, Recurrent lower respiratory tract infe...	OMIM:613501
Alpha-Thalassemia	Anisopoikilocytosis, Congestive heart failure, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis...	ORPHA:846
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Achondrogenesis Type 2	Short stature, Pulmonary hypoplasia	ORPHA:93296
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Aplastic anemia, Cirrhosis, Anemia, Reticular pattern on pulmonary HRCT, Mediastinal lymphadenopa...	OMIM:614742
Histiocytoid Cardiomyopathy	Congestive heart failure, Pulmonary edema, Hepatomegaly, Wolff-Parkinson-White syndrome, Atrial f...	ORPHA:137675
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Anencephaly, Accessory spleen, Dandy-Walker malformation...	OMIM:249000
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Bradycardia, Hypoplasia of the thymus, Conotruncal defect, Third d...	ORPHA:40366
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Reduced red cell adenosine deaminase level, Aplasia of...	OMIM:102700
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Pulmonary hypoplasia, Disproportionate short-trunk sh...	OMIM:608022
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Bronchiectasis, Decreased proportion of CD4-positive helper...	OMIM:615518
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Retinal hem...	ORPHA:86839
Hereditary Folate Malabsorption	Recurrent respiratory infections, Pancytopenia, Megaloblastic anemia, Decreased circulating antib...	ORPHA:90045
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Intrauterine growth retardation, Cerebellar hypoplasia, Pulmonary hypoplasia, Partial agenesis of...	ORPHA:86822
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Abnormal eosinophil morphology, Emphysema, Pulmonary arterial hypertension	ORPHA:1164
Immunodeficiency 27A	Anemia, Lymphadenopathy, Increased circulating IgG level, Leukocytosis, Increased circulating IgM...	OMIM:209950
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Kimura Disease	Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:255320
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Purpura, Hepatomegaly, Anemia, Petechiae, Vasculitis in the skin, Splenomegaly, Recurrent upper r...	OMIM:620296
Lethal Congenital Contracture Syndrome 1	Neonatal death, Pulmonary hypoplasia	OMIM:253310
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Growth delay,...	ORPHA:169079
Multiple Pterygium Syndrome, X-Linked	Intrauterine growth retardation, Hypoplastic heart, Pulmonary hypoplasia	OMIM:312150
Maternal Uniparental Disomy Of Chromosome 2	Postnatal growth retardation, Respiratory infections in early life, Decreased response to growth ...	ORPHA:96179
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Decreased proportion of class-switched memory B cells, B lymphocy...	OMIM:619705
Thanatophoric Dysplasia, Type I	Lethal short-limbed short stature, Neonatal death, Pulmonary hypoplasia, Disproportionate short-l...	OMIM:187600
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Chronic decreased circulating total IgG, A...	OMIM:613493
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Short stature, Thrombocytopenia, Splenomegaly, Diffuse alveolar hemorrhage,...	OMIM:616050
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Extrapulmonary lobar sequestration, Pulmonary hypoplasia, Hepatic ...	OMIM:200995
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Lymphadenopathy, Recurrent tonsillitis	OMIM:618852
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Death in childhood, Neutro...	OMIM:557000
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Immunodeficiency 32B	Hepatomegaly, Anemia, Abnormal circulating IgG level, Bronchiectasis, Eosinophilia, Neutrophilia,...	OMIM:226990
Absence Of The Pulmonary Artery	Abnormal heart morphology, Cardiomegaly, Abnormal cardiac septum morphology, Patent foramen ovale...	ORPHA:980
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, Recurrent respiratory infections, B lymphocytopenia, T lymphocyt...	OMIM:233650
Fetal Akinesia Deformation Sequence	Intrauterine growth retardation, Dandy-Walker malformation, Cryptorchidism, Pulmonary hypoplasia	ORPHA:994
Immunodeficiency 84	B lymphocytopenia, Splenomegaly, Perianal abscess	OMIM:619437
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:444463
Pericardial And Diaphragmatic Defect	Pulmonary sequestration, Mitral stenosis, Abnormal heart morphology, Tetralogy of Fallot, Pulmona...	ORPHA:2847
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Coronary sinus enlargement, Dysplastic tricuspid valve, Accessory sp...	OMIM:618280
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Hypoplasia of the pons, Pulmonary hypoplasia, Lymphopenia, Bronchiectasis, Ce...	OMIM:619708
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Encephalocele, Dandy-Walker malformation, Pulmonic stenosis, Short stature, Pulmonar...	OMIM:619148
Transaldolase Deficiency	Cirrhosis, Anemia, Premature skin wrinkling, Hepatosplenomegaly, Thrombocytopenia, Atrial septal ...	ORPHA:101028
Mulibrey Nanism	Congestive heart failure, Hepatomegaly, Recurrent lower respiratory tract infections, Pericardial...	OMIM:253250
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor, Hypertrophic cardiomyopathy	OMIM:612989
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Congestive heart failure, Anemia, Recurrent lower respiratory tract infections, Noncompaction car...	ORPHA:508542
Letterer-Siwe Disease	Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Pallor, Neutropenia	OMIM:246400
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Recurrent respiratory infections, Recurrent pneumonia, Decreased circ...	OMIM:613500
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Stillbirth, Abnormal cardiac septum morphology, Adrenal hypoplasia, Thyroid hypoplasia, Short sta...	OMIM:308050
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Serkal Syndrome	Abnormality of the adrenal glands, Pulmonic stenosis, Growth delay, Pulmonary hypoplasia, Ventric...	ORPHA:139466
Fetal Cytomegalovirus Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Petechia...	ORPHA:294
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Hypertension, Cerebellar atrophy, Death in infancy, Colpocephaly, Sple...	OMIM:270400
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia...	OMIM:314390
C1Q Deficiency 2	Facial erythema, Anemia, Atelectasis, Recurrent lower respiratory tract infections, Vasculitis in...	OMIM:620321
Agnathia-Otocephaly Complex	Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia, Agenesis of corpus c...	OMIM:202650
Mast Cell Sarcoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Decreased circulating IgG level, Recurrent sinusitis, Transient...	OMIM:619707
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Death in childhood, Anemia, Cardiac arrest, Elevated circulating alanine aminotrans...	OMIM:246450
Pseudo-Torch Syndrome 3	Anemia, Hypertension, Leukocytosis, Lymphadenitis, Death in infancy, Cerebral hemorrhage, Cardiom...	OMIM:618886
Cholesteryl Ester Storage Disease	Death in infancy, Acute hepatic failure, Splenomegaly, Leukopenia, Hepatic steatosis, Increased h...	OMIM:278000
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Pulmonary artery atresia, Pulmonary hypoplasia, Lateral ventricle d...	ORPHA:1692
Multiple Pterygium Syndrome, Lethal Type	Intrauterine growth retardation, Hypoplastic heart, Pulmonary hypoplasia	OMIM:253290
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Anemia, Abnormal lymph node morphology, Petechiae, Leukocytosis, Hepatosplenomegaly...	OMIM:612840
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Prolonged...	ORPHA:398124
Elliptocytosis 1	Jaundice, Elliptocytosis, Splenomegaly, Pallor, Hemolytic anemia	OMIM:611804
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia, Decreased circulating antibody level, Growth delay, Decreased circulating IgG ...	OMIM:614069
Felty Syndrome	Hepatomegaly, Anemia, Recurrent pharyngitis, Lymphadenopathy, Pleuritis, Abnormal lymphocyte morp...	ORPHA:47612
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Recurrent lower respiratory tract infections, Abnormal natural killer cell morphology, Cerebellar...	OMIM:615966
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Congestive heart failure, Patent foramen ovale, Cardiomyopathy, Secundum atrial septal defect, Pu...	OMIM:616866
Nephronophthisis 2	Situs inversus totalis, Enlarged kidney, Pulmonary insufficiency, Hypertension, Pulmonary hypoplasia	OMIM:602088
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Death in childhood, Chronic hemolytic anemia, Atelectasis, Microvesicular hepatic s...	OMIM:618278
Cyclic Vomiting Syndrome	Growth delay, Pallor, Cardiomyopathy	OMIM:500007
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Non-Functioning Pituitary Adenoma	Anemia of inadequate production, Female hypogonadism, Hypogonadism, Central adrenal insufficiency...	ORPHA:91349
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Acute pa...	ORPHA:20
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Miscarriage, Abnormal heart morphology, Pulmonary hypoplasia, Severe short stature...	ORPHA:1865
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg...	ORPHA:860
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Panhypogammaglob...	ORPHA:79124
Non-Functioning Paraganglioma	Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Parag...	ORPHA:94080
Immunodeficiency 14B, Autosomal Recessive	Thrombocytosis, Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Ne...	OMIM:619281
Bronchopulmonary Dysplasia	Emphysema, Atelectasis, Pulmonary sequestration, Abnormal lung morphology, Right ventricular fail...	ORPHA:70589
Gaucher Disease, Type I	Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Pancytopenia, Hypertension, Pul...	OMIM:230800
Combined Immunodeficiency Due To Dock8 Deficiency	Skin ulcer, B lymphocytopenia, Increased circulating IgE level, T lymphocytopenia, Recurrent sinu...	ORPHA:217390
Niemann-Pick Disease, Type A	Irritability, Lymphadenopathy, Inability to walk, Athetosis, Splenomegaly, Cherry red spot of the...	OMIM:257200
Pleural Mesothelioma	Lymphadenopathy, Dysphagia	ORPHA:50251
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Pulmonary insufficiency, Jaundice, Recurrent respiratory infections, Bile duct proliferation, Pol...	OMIM:208500
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Gastrointestinal hemorrhage, Abnormal pulmonary interstitial morphology, Anemia,...	OMIM:613990
Fontaine Progeroid Syndrome	Redundant skin, Death in infancy, Abnormal heart morphology, Recurrent aspiration pneumonia, Umbi...	OMIM:612289
Lethal Congenital Contracture Syndrome Type 1	Short stature, Pulmonary hypoplasia	ORPHA:1486
Distal Triplication 15Q	Dandy-Walker malformation, Abnormal heart morphology, Pulmonary hypoplasia, Intrauterine growth r...	ORPHA:314588
Prolidase Deficiency	Hepatomegaly, Skin ulcer, Diffuse telangiectasia, Increased circulating antibody level, Anemia, P...	OMIM:170100
Gaucher Disease Type 1	Delayed puberty, Increased circulating antibody level, Leukopenia, Splenomegaly, Pancytopenia, Sp...	ORPHA:77259
Anemia, Sideroblastic, 1	Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production,...	OMIM:300751
Meckel Syndrome, Type 6	Occipital encephalocele, Anencephaly, Bile duct proliferation, Pulmonary hypoplasia, Cystic liver...	OMIM:612284
Dermatitis, Atopic	Pallor, Facial erythema, Dry skin	OMIM:603165
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Congenital Tracheomalacia	Pneumothorax, Pneumonia, Emphysema, Recurrent upper respiratory tract infections, Pulmonary arter...	ORPHA:95430
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Chromosome 1Q41-Q42 Deletion Syndrome	Cryptorchidism, Short stature, Pulmonary hypoplasia, Cerebellar hypoplasia, Ventricular septal de...	OMIM:612530
Neurodegeneration And Seizures Due To Copper Transport Defect	Pneumothorax, Cerebellar atrophy, Tricuspid regurgitation, Pulmonary hypoplasia, Cardiomegaly	OMIM:620306
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemi...	OMIM:616860
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Pulmonary hypoplasia, Testicular atrophy	OMIM:601163
Microcephaly-Micromelia Syndrome	Intrauterine growth retardation, Neonatal death, Pulmonary hypoplasia	OMIM:251230
Tarp Syndrome	Cryptorchidism, Tetralogy of Fallot, Pulmonary hypoplasia, Intrauterine growth retardation, Cereb...	ORPHA:2886
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia, Recurrent bronchitis, Decreased circulating IgG le...	OMIM:612692
Transaldolase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Patent foramen ovale, He...	OMIM:606003
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia, Pulmonary fibrosis, Type I...	OMIM:620365
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Cirrhosis, Emphysema, Portal hypertension, Short stature, Hepatic failure	OMIM:210050
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Neonatal short-limb short stature, Stillbirth, Pulmonary hypoplasia, Rhizomelia	OMIM:151210
Cirrhotic Cardiomyopathy	Left atrial enlargement, Elevated pulmonary artery pressure, Cirrhosis, Hepatomegaly, Jaundice, P...	ORPHA:57777
Digeorge Syndrome	Recurrent sinusitis, Ovarian cyst, Splenomegaly, Abnormal thymus morphology, Umbilical hernia, He...	OMIM:188400
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Hypophosphatasia	Short stature, Emphysema, Anemia	ORPHA:436
Hypocomplementemic Urticarial Vasculitis	Small vessel vasculitis, Hepatomegaly, Emphysema, Lymphadenopathy, Abnormal heart valve morpholog...	ORPHA:36412
Peroxisome Biogenesis Disorder 1A (Zellweger)	Redundant neck skin, Hepatomegaly, Death in childhood, Intrahepatic biliary dysgenesis, Adrenal h...	OMIM:214100
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Elevated circulating hepatic transaminase concentration, Anemia, Accessory spleen, Severe postnat...	OMIM:620005
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Autosomal Recessive Multiple Pterygium Syndrome	Abnormal aortic valve morphology, Spina bifida occulta, Short stature, Pulmonary hypoplasia, Hypo...	ORPHA:2990
Neu-Laxova Syndrome	Dandy-Walker malformation, Spina bifida, Pulmonary hypoplasia, Lack of skin elasticity, Hypogonad...	ORPHA:2671
Tetraploidy	Chiari malformation, Aplasia/Hypoplasia of the thymus, Intrauterine growth retardation, Aplasia/H...	ORPHA:3305
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Hypertrophic cardiomyo...	OMIM:613673
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Abnormal pleura morphology, Intrauterine growth retardation, Aplasia/Hypoplasia ...	ORPHA:2570
Heterotaxy, Visceral, 5, Autosomal	Atrioventricular canal defect, Cerebellar hypoplasia, Double inlet left ventricle, Dextrocardia, ...	OMIM:270100
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul...	OMIM:611812
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Cardiomyopathy, Dilated, 1I	Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ...	OMIM:604765
Optic Atrophy 1	Pallor	OMIM:165500
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Cardiomegaly, Ventricular septal hypertrophy, Muscula...	OMIM:115197
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Immunodeficiency 92	Hepatomegaly, Cholangitis, Sclerosing cholangitis, Thrombocytosis, Lymphocytosis, Decreased propo...	OMIM:619652
Mosaic Trisomy 9	Abnormal lung lobation, Dextrocardia, Abnormal liver lobulation, Abnormal heart valve morphology,...	ORPHA:99776
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Dry skin, Leu...	ORPHA:39041
Alg9-Cdg	Abnormal lung lobation, Atrial septal defect, Enlarged kidney, Hepatomegaly, Rhizomelia, Abnormal...	ORPHA:79328
Meckel Syndrome 14	Pneumothorax, Occipital encephalocele, Tricuspid regurgitation, Pulmonary hypoplasia, Hepatic fib...	OMIM:619879
Panhypophysitis	Central diabetes insipidus, Orthostatic hypotension, Normochromic anemia, Reduced circulating pro...	ORPHA:95513
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial...	OMIM:306955
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Erythroid hyperplasia, Anemia, Increased mean corpuscular volume, Extra...	OMIM:617021
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Recurrent respiratory infections, Pulmonary arterial hyper...	ORPHA:667
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Short stature, Sple...	OMIM:256550
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Combined Oxidative Phosphorylation Deficiency 42	Decreased liver function, Anemia, Cardiomyopathy, Death in infancy, Neonatal death, Decreased cir...	OMIM:618839
Adenohypophysitis	Orthostatic hypotension, Reduced circulating prolactin concentration, Normochromic anemia, Increa...	ORPHA:95512
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Anemia, Hypertrophic cardiomyopathy, Death in infancy, Neonatal death, ...	OMIM:618835
Spontaneous Periodic Hypothermia	Pallor, Arrhythmia	ORPHA:29822
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Elevated circulating...	ORPHA:64743
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Lymphadenopathy	OMIM:619220
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Reduced left ventricular ...	ORPHA:85451
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Diamond-Blackfan Anemia 1	Congestive heart failure, Elevated red cell adenosine deaminase activity, Thrombocytosis, Spina b...	OMIM:105650
Fryns Syndrome	Stillbirth, Chylothorax, Dandy-Walker malformation, Cryptorchidism, Pulmonary hypoplasia, Agenesi...	OMIM:229850
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Increase...	ORPHA:263455
Acute Interstitial Pneumonia	Reduced hematocrit, Atelectasis, Lymphadenopathy, Hypertension, Pleural effusion, Bronchiectasis,...	ORPHA:79126
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Postnatal growth retardation, Redundant neck skin, Hepatomegaly, Spinal dysraphism, Large placent...	ORPHA:96334
Neu-Laxova Syndrome 1	Stillbirth, Short umbilical cord, Transposition of the great arteries, Small placenta, Hydranence...	OMIM:256520
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Pallor, Autoimmune hemolytic anemia	ORPHA:90036
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Mosaic Trisomy 16	Large placenta, Maternal diabetes, Abnormal lung morphology, Abnormal heart morphology, Pulmonary...	ORPHA:1708
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ...	ORPHA:70593
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Lymph...	ORPHA:829
Q Fever	Elevated circulating hepatic transaminase concentration, Increased circulating antibody level, Gr...	ORPHA:781
Kaposiform Lymphangiomatosis	Enlarged kidney, Epidural hemorrhage, Anemia, Abnormality of the lymphatic system, Abnormal splee...	ORPHA:464329
Teebi Hypertelorism Syndrome 1	Short stature, Pulmonary hypoplasia, Atrial septal defect, Ventricular septal defect, Hydrocele t...	OMIM:145420
Idiopathic Bronchiectasis	Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ...	ORPHA:60033
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypertension, Hypotension, Leukocytosis, Pallor, Thrombocytosis	ORPHA:134
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Abnormal lung lobation, Atrioventricular canal defect, Abnormal aortic valve morphology, Tricuspi...	ORPHA:1120
Sheehan Syndrome	Breast hypoplasia, Central diabetes insipidus, Orthostatic hypotension, Normochromic anemia, Brad...	ORPHA:91355
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia	OMIM:601457
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased blood pressure, ...	OMIM:619487
Stuve-Wiedemann Syndrome 1	Premature skin wrinkling, Pulmonary arterial hypertension, Death in infancy, Short stature, Pulmo...	OMIM:601559
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Pancreatic fibrosis, Hepatic fibrosis, Tricuspid regurgitation, Pul...	OMIM:263520
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Abnormal pulmonary interstitial mor...	ORPHA:227990
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Anemia, Elevated circulating hepatic transaminase concentration, Abnormal lymph no...	ORPHA:54251
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Postnatal growth retardation, Perimembranous ventricular septal defect, Hepatomegaly, Cholelithia...	ORPHA:83617
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Abnormal pulmonary interstitial mor...	ORPHA:227982
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy	OMIM:618982
Fanconi Anemia, Complementation Group C	Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Hypergonadotropic hypogonadism, Short sta...	OMIM:227645
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Dysplastic tricuspid valve, Bicuspid aortic valve, Alveolar capillary dysplasia, Misalignment of ...	OMIM:265380
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short stature, Hepatic fibrosis, Pulmonary hypoplasia	OMIM:614091
Dpagt1-Cdg	Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Prolonged QT inter...	ORPHA:86309
Pituitary Apoplexy	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Normochromic a...	ORPHA:95613
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect, Pulmonary hypoplasia	OMIM:617895
Caudal Regression Syndrome	Maternal diabetes, Hypertension, Pulmonary hypoplasia, Chiari malformation, Cryptorchidism	ORPHA:3027
Czeizel-Losonci Syndrome	Dextrocardia, Spina bifida occulta, Hypoplastic nipples, Myelomeningocele, Spina bifida, Pulmonar...	ORPHA:2437
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Recurrent upper respiratory tract infe...	OMIM:252920
Alpha-Heavy Chain Disease	Splenomegaly, Lymphadenopathy	ORPHA:100025
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Congestive heart failure, Anomalous origin of left pulmonary artery from ascending aorta, Transpo...	ORPHA:99050
Jeune Syndrome	Abnormality of the liver, Aplasia/Hypoplasia of the lungs, Short stature	ORPHA:474
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	OMIM:300853
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Epidermodysplasia Verruciformis, Susceptibility To, 4	Facial erythema, Emphysema, Increased proportion of exhausted T cells	OMIM:618307
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Recurrent respiratory infections, Abnormal testis morphology, Aplasia/Hypoplasia of the lungs	ORPHA:1548
Peripartum Cardiomyopathy	Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro...	ORPHA:563
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Pulmonary embolism, Hepatomegaly, Anemia, Iron deficiency anemia, Recurrent lower respiratory tra...	OMIM:226300
Meier-Gorlin Syndrome 7	Meconium peritonitis, Heart block, Chiari type I malformation, Breast aplasia, Cryptorchidism, Sh...	OMIM:617063
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Pulmonary pneumatocele, Hepatomegaly, Recurrent respiratory infectio...	OMIM:620565
Degcags Syndrome	Cholestasis, Abnormal spleen morphology, Pulmonic stenosis, Leukopenia, Intrauterine growth retar...	OMIM:619488
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Genitopatellar Syndrome	Short stature, Pulmonary hypoplasia, Agenesis of corpus callosum, Atrial septal defect, Cryptorch...	ORPHA:85201
Acro-Renal-Mandibular Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia, Abnormal lung lobation	ORPHA:958
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Stillbirth, Rhizomelia, Encephalocele, Dandy-Walker malformation, Pulmonary hypoplasia, Cerebella...	OMIM:616300
Immunodeficiency 57 With Autoinflammation	Perianal abscess, B lymphocytopenia, Decreased circulating antibody level, Partial absence of spe...	OMIM:618108
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Pancreatitis, Pleuritis, Hypertension, Pleural empyema, Hypertensive crisis, Leukocy...	ORPHA:544482
Combined Oxidative Phosphorylation Deficiency 10	Bradycardia, Pleural effusion, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly, I...	OMIM:614702
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Death in childhood, Pulmon...	OMIM:619064
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Hepatomegaly, Atelectasis, Recurrent lower respirator...	OMIM:620233
Complete Atrioventricular Septal Defect	Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car...	ORPHA:1329
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Rhabdoid Tumor	Irritability, Lymphadenopathy	ORPHA:69077
Congenital Syphilis	Myocarditis, Palmoplantar scaling skin, Purpura, Large placenta, Pancreatitis, Anemia, Pneumonia,...	ORPHA:499009
Immunodeficiency 70	Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas...	OMIM:618969
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hepatomegaly, Bradycardia, Megaloblastic anemia, Cardiac arrest, Hypotension, Pulmonary arterial ...	OMIM:277400
Atelosteogenesis Type I	Pulmonary hypoplasia, Neonatal short-trunk short stature, Rhizomelia, Abnormal pancreatic duct mo...	ORPHA:1190
Congenital Diaphragmatic Hernia	Pulmonary hypoplasia	ORPHA:2140
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the spleen	ORPHA:543
Achondrogenesis Type 1B	Disproportionate short stature, Severe short stature, Aplasia/Hypoplasia of the lungs, Umbilical ...	ORPHA:93298
Agammaglobulinemia, X-Linked	Anemia, Decreased circulating IgE, Recurrent lower respiratory tract infections, B lymphocytopeni...	OMIM:300755
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Thro...	ORPHA:124
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia, Asplenia	OMIM:618948
Hemophagocytic Lymphohistiocytosis, Familial, 4	Lymphadenopathy, Splenomegaly	OMIM:603552
Al Amyloidosis	Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Increased circulating antibody level, Abnormal...	ORPHA:85443
Platyspondylic Dysplasia, Torrance Type	Pulmonary hypoplasia, Disproportionate short-limb short stature	ORPHA:85166
Renal Hypodysplasia/Aplasia 1	Hypertension, Pulmonary hypoplasia	OMIM:191830
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te...	ORPHA:293978
Von Hippel-Lindau Disease	Myocarditis, Neoplasm of the pancreas, Abnormal left ventricular function, Pancreatic endocrine t...	ORPHA:892
Achondrogenesis	Severe short stature, Aplasia/Hypoplasia of the lungs, Umbilical hernia	ORPHA:932
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymphocytopenia, Hypothyro...	ORPHA:83471
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Petechiae, Reticulocytosis, Growth delay, Thrombocytopenia, Splenomegaly	OMIM:611490
Joubert Syndrome 21	Occipital encephalocele, Encephalocele, Elongated superior cerebellar peduncle, Pulmonary hypopla...	OMIM:615636
Immunodeficiency, Common Variable, 2	Follicular hyperplasia, Lymphadenopathy, Splenomegaly	OMIM:240500
Craniosynostosis, Herrmann-Opitz Type	Intrauterine growth retardation, Aplasia/Hypoplasia of the lungs, Short stature	ORPHA:2145
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Mediastinal lymphade...	ORPHA:2302
Fryns Syndrome	Dandy-Walker malformation, Pulmonary hypoplasia, Tetralogy of Fallot, Agenesis of corpus callosum...	ORPHA:2059
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis, Target ce...	OMIM:603903
Cutis Laxa-Marfanoid Syndrome	Abnormal heart valve morphology, Redundant skin, Emphysema	ORPHA:171719
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Intraut...	OMIM:620376
Rh Deficiency Syndrome	Jaundice, Macrocytic anemia, Miscarriage, Spherocytosis, Hypochromia, Reticulocytosis, Anisocytos...	ORPHA:71275
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Cutis laxa, Abnormal heart morphology, Emphysema	OMIM:614100
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Abnormal cardiac septum morphology	OMIM:601612
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Interstitial pneumonitis, ...	OMIM:127550
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Petechiae, B lymphocytopenia, Cerebellar atrophy, Bone marrow hypocellularity, Intr...	OMIM:620133
Ciliary Dyskinesia, Primary, 1	Situs inversus totalis, Atelectasis, Recurrent bronchitis, Bronchiectasis, Asplenia, Pneumonia	OMIM:244400
Fetal Akinesia Deformation Sequence 1	Short umbilical cord, Stillbirth, Small placenta, Pulmonary hypoplasia, Intrauterine growth retar...	OMIM:208150
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Neoplasm of the pancreas, Anemia, Lymphadenopathy, Abnormal peritoneum morphology, ...	ORPHA:83469
Hypoglossia With Situs Inversus	Situs inversus totalis, Polysplenia, Asplenia	OMIM:612776
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Abnormal natural kille...	OMIM:620430
Thanatophoric Dysplasia Type 2	Encephalocele, Redundant skin, Short stature, Atrial septal defect, Aplasia/Hypoplasia of the lungs	ORPHA:93274
Timothy Syndrome	Pneumonia, Prolonged QT interval, Bradycardia, Bronchitis, Patent foramen ovale, Pulmonary arteri...	OMIM:601005
Fanconi Anemia, Complementation Group D2	Annular pancreas, Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Hypergonadotropic hypog...	OMIM:227646
Pfapa Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:42642
Distal Deletion 15Q	Postnatal growth retardation, Decreased serum insulin-like growth factor 1, Short stature, Growth...	ORPHA:1596
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent respiratory infecti...	ORPHA:100026
Restrictive Dermopathy 1	Scaling skin, Stillbirth, Short umbilical cord, Adrenal hypoplasia, Hydropic placenta, Neonatal d...	OMIM:275210
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Follicular hyperplasia, Lymphadenopathy	OMIM:619846
Achondrogenesis Type 1A	Severe short stature, Aplasia/Hypoplasia of the lungs, Umbilical hernia	ORPHA:93299
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Delayed puberty, Abnormality of the endocrine system, Primary hypothyroidism, Lymphopenia, Type I...	ORPHA:391487
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Short stature, Pulmonary hypoplasia, Ventricular septal defect, Pancreatic fibrosis	OMIM:615503
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Death in childhood, Anemia, Death in infancy, Growth delay, Decreased circulating I...	OMIM:612301
Severe Congenital Nemaline Myopathy	Pulmonary hypoplasia	ORPHA:171430
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Bronchiectasis, Decreased circulating IgG level, Abnormal circul...	OMIM:241600
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter...	ORPHA:99125
Axial Mesodermal Dysplasia Spectrum	Abnormality of the liver, Aplasia/Hypoplasia of the lungs, Abnormality of the spleen, Short stature	ORPHA:1834
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated jugular venous pressure, Hepatocellul...	ORPHA:465508
Familial Atrial Myxoma	Congestive heart failure, Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Tricuspi...	ORPHA:615
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le...	OMIM:618048
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Fumarase Deficiency	Perimembranous ventricular septal defect, Intrahepatic cholestasis, Polycythemia, Agenesis of cor...	OMIM:606812
Alveolar Echinococcosis	Decreased liver function, Abnormal adrenal morphology, Jaundice, Liver abscess, Cholangitis, Incr...	ORPHA:284
Aicardi-Goutieres Syndrome 7	Hematemesis, Increased circulating antibody level, Hypertension, Cerebellar atrophy, Hematochezia...	OMIM:615846
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Congestive heart failure, Atrioventricular canal defect, Cardiome...	ORPHA:3092
Achondrogenesis, Type Ia	Disproportionate short-trunk short stature, Stillbirth, Pulmonary hypoplasia	OMIM:200600
Tetrasomy 9P	Jaundice, Dextrocardia, Biliary atresia, Dandy-Walker malformation, Patent foramen ovale, Pulmona...	ORPHA:3310
Meconium Aspiration Syndrome	Pneumothorax, Pulmonary insufficiency, Atelectasis, Maternal diabetes, Pulmonary arterial hyperte...	ORPHA:70588
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Meacham Syndrome	Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Pulmonary se...	ORPHA:3097
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating hepatic transaminase concentration, Hypertension, Bone marrow hypocellularit...	OMIM:615688
Boomerang Dysplasia	Decreased response to growth hormone stimulation test, Cryptorchidism, Aplasia/Hypoplasia of the ...	ORPHA:1263
Carnitine Deficiency, Systemic Primary	Congestive heart failure, Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine lev...	OMIM:212140
Smith-Lemli-Opitz Syndrome	Abnormal lung lobation, Abnormality of the gallbladder, Atrioventricular canal defect, Rhizomelia...	ORPHA:818
Achondroplasia	Neonatal short-limb short stature, Pulmonary hypoplasia, Rhizomelia, Death in infancy	OMIM:100800
Gaucher Disease Type 3	Delayed puberty, Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Increased circ...	ORPHA:77261
Plummer-Vinson Syndrome	Pallor, Hypochromic microcytic anemia, Iron deficiency anemia	ORPHA:54028
Dravet Syndrome	Pallor	ORPHA:33069
Renal Tubular Dysgenesis	Pulmonary hypoplasia, Hypotension	OMIM:267430
Oligomeganephronia	Hypertension, Pulmonary venous occlusion, Secundum atrial septal defect, Pulmonary hypoplasia, Br...	ORPHA:2260
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Hepatomegaly, Emphysema, Bronchitis, Hepatocellular carcinoma, Cholestasis, ...	ORPHA:60
Classic Mycosis Fungoides	Lymphadenopathy, Splenomegaly	ORPHA:2584
Wiedemann-Rautenstrauch Syndrome	Pneumonia, Premature skin wrinkling, Increased serum testosterone level, Dandy-Walker malformatio...	OMIM:264090
Sporadic Pheochromocytoma/Secreting Paraganglioma	Congestive heart failure, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Hypertension a...	ORPHA:276621
Raine Syndrome	Short stature, Neonatal death, Pulmonary hypoplasia, Death in infancy	OMIM:259775
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Pheochromocytoma, Hypertension associated with ph...	ORPHA:653
Thyroid Lymphoma	Lymphadenopathy, Dysphagia	ORPHA:97285
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Partial anomalous pulmonary venous return, Dextrocardia, Ventricular septal defect, Asplenia, Pul...	OMIM:619657
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Decreased circulating antibody level, Cardiomyo...	OMIM:616084
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Postnatal growth retardation, Atelectasis, Repeated pneumothoraces, Pulmonary hypoplasia, Mitral ...	ORPHA:536467
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Neonatal death, Pulmonary hypoplasia, Tetralogy of Fallot, Absent gallbladder, Complete atriovent...	OMIM:617925
Fanconi Anemia, Complementation Group E	Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Hypergonadotropic hypogonadism, Short sta...	OMIM:600901
Congenital Myopathy 22B, Severe Fetal	Pulmonary hypoplasia, Hepatomegaly, Pleural effusion	OMIM:620369
Immunodeficiency, Common Variable, 13	B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level, Pancytopenia	OMIM:616873
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Coronary Arterial Fistula	Atrial septal defect, Congestive heart failure, Cardiomegaly, Tachycardia, Angina pectoris, Bacte...	ORPHA:2041
Birt-Hogg-Dubé Syndrome	Pneumothorax, Emphysema, Pulmonary sequestration, Parathyroid adenoma, Medullary thyroid carcinoma	ORPHA:122
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Asplenia	OMIM:601086
Alg12-Cdg	Muscular ventricular septal defect, Elevated circulating hepatic transaminase concentration, Recu...	ORPHA:79324
Osteogenesis Imperfecta	Abnormal endocardium morphology, Rhizomelia, Aortic regurgitation, Cutis laxa, Short stature, Gro...	ORPHA:666
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper...	OMIM:618052
Immunodeficiency 89 And Autoimmunity	Pleural thickening, Hypochromic microcytic anemia, Recurrent lower respiratory tract infections, ...	OMIM:619632
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Tachycardia, Pallor, Hepat...	ORPHA:348
Fabry Disease	Delayed puberty, Hypertension, Left ventricular hypertrophy, Diabetes insipidus, Transient ischem...	ORPHA:324
Tularemia	Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy...	ORPHA:3392
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Roifman Syndrome	Hepatosplenomegaly, Lymphadenopathy, Retinal dystrophy	ORPHA:353298
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Pulmonary hypoplasia, Atrial septal defect, Cerebellar atrophy, Hydrocele testis	OMIM:614080
Roifman Syndrome	Lymphadenopathy, Splenomegaly, Retinal dystrophy	OMIM:616651
Cinca Syndrome	Papilledema, Hepatosplenomegaly, Lymphadenopathy	OMIM:607115
Brucellosis	Bronchitis, Miscarriage, Granuloma, Pericarditis, Leukopenia, Splenomegaly, Myocarditis, Increase...	ORPHA:1304
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidism, Bone marr...	OMIM:618849
Fanconi Anemia, Complementation Group A	Anemia, Pancytopenia, Anemic pallor, Reticulocytopenia, Hypergonadotropic hypogonadism, Short sta...	OMIM:227650
Otopalatodigital Syndrome Type 2	Encephalocele, Abnormal heart valve morphology, Myelomeningocele, Pulmonary hypoplasia, Cerebella...	ORPHA:90652
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Abnormal pulmonary interstitial morphology, Hepatomegaly, Emphysema, In...	OMIM:181000
Dextrocardia	Abnormal lung lobation, Situs inversus totalis, Dextrocardia, Pancreatic hypoplasia, Abnormality ...	ORPHA:1666
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Decreased circulating cortisol level, Anemia, Intrauterine growth retardation	OMIM:618838
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia, Agammaglobulinemia	OMIM:616941
Schnitzler Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:37748
Esophageal Atresia	Maternal diabetes, Recurrent respiratory infections, Bronchitis, Growth delay, Tetralogy of Fallo...	ORPHA:1199
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Neuroblastoma	Anemia, Lymphadenopathy, Anemic pallor, Hypertension, Thrombocytopenia, Elevated circulating cate...	ORPHA:635
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Restrictive Dermopathy	Scaling skin, Short umbilical cord, Large placenta, Transposition of the great arteries, Small pl...	ORPHA:1662
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, C...	ORPHA:75565
Sarcoidosis	Decreased liver function, Increased T cell count, Leukopenia, Enlarged lacrimal glands, Diabetes ...	ORPHA:797
Isolated Anencephaly	Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes, Intrauterine growth retardation	ORPHA:563609
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Cerebellar vermis hypoplasia, Asplenia, Pulmonic stenosis, Cryptor...	OMIM:619123
Vacterl With Hydrocephalus	Intrauterine growth retardation, Cryptorchidism, Pulmonary hypoplasia, Spina bifida	ORPHA:3412
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Pulmonic stenosis, Aortic valve stenosis, Cutis laxa, Short stat...	ORPHA:536471
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ...	OMIM:619991
Mogs-Cdg	Pulmonary edema, Hepatomegaly, Decreased circulating antibody level, Inappropriate antidiuretic h...	ORPHA:79330
Congenital Alveolar Capillary Dysplasia	Pulmonary valve atresia, Annular pancreas, Atrioventricular canal defect, Pulmonary arterial hype...	ORPHA:210122
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Splenomegaly	OMIM:611762
Congenital Myopathy 8	Cardiomegaly, Congestive heart failure	OMIM:618654
Glycogen Storage Disease Ii	Hepatomegaly, Wolff-Parkinson-White syndrome, Right axis deviation, Sinus tachycardia, Pleural ef...	OMIM:232300
Leukodystrophy, Hypomyelinating, 24	Hypothyroidism, B lymphocytopenia, Severe short stature	OMIM:619851
Heterotaxy, Visceral, 2, Autosomal	Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc...	OMIM:605376
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Congestive heart failure, Liver abscess, Elevated circulating hepatic transaminase ...	ORPHA:67
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Patent foramen ovale, Tricuspid regurgitation, Bilateral cryptorchidism, Abn...	OMIM:618652
Porphyria Due To Ala Dehydratase Deficiency	Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Restlessness	ORPHA:100924
Vacterl/Vater Association	Occipital encephalocele, Abnormality of the gallbladder, Anencephaly, Intrauterine growth retarda...	ORPHA:887
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Anemia, Abnormal pulmonary interstitial morphology, Intraalveolar phosph...	OMIM:615486
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Pleural effusion, Leukocytosis, Hepatosplenomegaly, Spleno...	ORPHA:457077
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Hypertension, Female hypogonadism, Hypogonadism, Central adrenal insufficiency, ...	ORPHA:91347
Incontinentia Pigmenti	Breast hypoplasia, Breast aplasia, Hypoplastic nipples, Leukocytosis, Retinal hemorrhage, Short s...	OMIM:308300
Schinzel-Giedion Syndrome	Annular pancreas, Neural tube defect, Chiari type I malformation, Central hypothyroidism, Abnorma...	ORPHA:798
Autosomal Recessive Amelia	Cryptorchidism, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology	ORPHA:1027
Prolactinoma	Delayed puberty, Anterior hypopituitarism, Decreased circulating ACTH concentration, Pituitary hy...	ORPHA:2965
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Pulmonary arterial hypertension, Hypertrophic c...	OMIM:619051
Metatropic Dysplasia	Severe short stature, Aplasia/Hypoplasia of the lungs	ORPHA:2635
Fish-Eye Disease	Splenomegaly, Lymphadenopathy	ORPHA:79292
Bare Lymphocyte Syndrome, Type I	Skin ulcer, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis	OMIM:604571
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Immune Dysregulation, Autoimmunity, And Autoinflammation	Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Decreased serum insulin-like growth factor 1, Hepatomegaly, Elevated circulating...	OMIM:614921
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta...	ORPHA:79127
Surfactant Metabolism Dysfunction, Pulmonary, 3	Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Crazy paving pattern, ...	OMIM:610921
Hereditary Pheochromocytoma-Paraganglioma	Congestive heart failure, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Hypertension a...	ORPHA:29072
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Reduced left ventricular ejection fraction, Periportal fibrosis, Hypertrophic cardi...	OMIM:201475
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Iron deficiency anemia, Asplenia, Hypothyroidism, Chronic hepatitis, Primary adrenal i...	OMIM:269200
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp...	OMIM:300280
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior, Cherry red spot of the macula	ORPHA:309246
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Congestive heart failure, Emphysema, Abnormal cardiac ventricular function, Redunda...	ORPHA:90349
Multiple Pterygium Syndrome, Escobar Variant	Hypoplastic nipples, Short stature, Pulmonary hypoplasia, Umbilical hernia, Cryptorchidism	OMIM:265000
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, B l...	ORPHA:35078
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Hepatomegaly, Reduced left ventricular ejection fraction, Abnorma...	ORPHA:1677
Autoinflammatory Disease, Systemic, X-Linked	B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate...	OMIM:301081
Proteus-Like Syndrome	Bronchogenic cyst, Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parat...	ORPHA:2969
Ellis Van Creveld Syndrome	Acute leukemia, Situs inversus totalis, Neonatal short-limb short stature, Atrioventricular canal...	ORPHA:289
Scrub Typhus	Lymphadenopathy, Splenomegaly, Lethargy	ORPHA:83317
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Abnormal pulmonary interstitial morphology, Elevated circula...	OMIM:613658
Anaplastic Thyroid Carcinoma	Lymphadenopathy, Dysphagia	ORPHA:142
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology	ORPHA:3346
Kaposi Sarcoma	Generalized lymphadenopathy, Abnormality of the spleen, Abnormal retinal morphology	ORPHA:33276
Immunodeficiency 54	Lymphadenopathy, Splenomegaly	OMIM:609981
Eec Syndrome	Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Hypoplasia of th...	ORPHA:1896
Senior-Loken Syndrome 8	Hepatic cysts, Pallor, Pancreatic cysts, Intrahepatic bile duct dilatation	OMIM:616307
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Aortopulmonary window, Pulmonary arterial hypertension, Pulmonary artery hypoplasia...	OMIM:620025
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hypocellularity, Ecchymo...	ORPHA:88
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Intraalveolar phospholipid accumulation, Cu...	OMIM:222700
Prune Belly Syndrome	Atrial septal defect, Cryptorchidism, Decreased testicular size, Tetralogy of Fallot, Recurrent r...	ORPHA:2970
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Lymphadenopathy	OMIM:618495
Indolent Systemic Mastocytosis	Splenomegaly, Lymphadenopathy	ORPHA:98848
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Growth delay, Anemic pallor, Hematochezia, Anemia	ORPHA:329971
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Cardiac ar...	OMIM:617713
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Death in childhood, Severely reduced left ventricular ejection fraction...	OMIM:620609
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Elevated pulmonary artery pressure, Bidirectional shunt, Pulmonary hypoplasia, Peritonitis	OMIM:619351
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Anencephaly, Cerebellar vermis hypoplasia, Occipital meningocele, Pulmonary hypoplasia, Atrial se...	OMIM:616546
Orofaciodigital Syndrome Type 4	Bilateral lung agenesis, Monorchism, Growth delay, Decreased testicular size, Primary adrenal ins...	ORPHA:2753
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Pancreatic ...	OMIM:602782
Glycogen Storage Disease Xii	Delayed puberty, Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bi...	OMIM:611881
Mucolipidosis Ii Alpha/Beta	Congestive heart failure, Enlarged kidney, Hepatomegaly, Death in childhood, Aortic regurgitation...	OMIM:252500
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Female hypogonadism, Asplenia, Hypo...	OMIM:240300
Atelosteogenesis Type Ii	Pulmonary hypoplasia, Rhizomelia, Rhizomelic arm shortening	ORPHA:56304
Lethal Congenital Contracture Syndrome 9	Intrauterine growth retardation, Short umbilical cord, Pulmonary hypoplasia	OMIM:616503
Lujo Hemorrhagic Fever	Myocarditis, Purpura, Elevated circulating hepatic transaminase concentration, Atelectasis, Brady...	ORPHA:319213
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Recurrent respiratory infections, Patent foramen ovale, Hypoplastic nipples, Thyroid hypoplasia, ...	OMIM:620186
Treacher-Collins Syndrome	Abnormality of the adrenal glands, Encephalocele, Thyroid hypoplasia, Hypoplasia of the thymus, C...	ORPHA:861
Medullary Thyroid Carcinoma	Lymphadenopathy, Dysphagia	ORPHA:1332
Tetraamelia Syndrome 1	Adrenal gland agenesis, Pulmonary hypoplasia, Peripheral pulmonary vessel aplasia, Asplenia	OMIM:273395
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Irida Syndrome	Pallor, Intrahepatic cholestasis	ORPHA:209981
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Left ventricular outflow tract obstruction, Low-output congestive heart failure, El...	ORPHA:308552
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Emphysema, Premature skin wrinkling, Ventricular hypertrophy, Hypertens...	ORPHA:363618
Fucosidosis	Hepatomegaly, Petechiae, Vacuolated lymphocytes, Dry skin, Short stature, Splenomegaly, Cardiomeg...	OMIM:230000
Kikuchi-Fujimoto Disease	Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Elevated circulating hepat...	ORPHA:50918
Netherton Syndrome	Emphysema, Increased circulating IgE level, Decreased circulating antibody level, Dry skin, Short...	ORPHA:634
Griscelli Syndrome	Bone marrow hypocellularity, Ataxia, Splenomegaly, Lymphadenopathy	ORPHA:381
Holzgreve Syndrome	Intrauterine growth retardation, Abnormal mesentery morphology, Aplasia/Hypoplasia of the lungs	ORPHA:2167
Congenital Myopathy 17	Pulmonary hypoplasia, Respiratory tract infection	OMIM:618975
Legionnaires Disease	Anorexia, Lymphadenopathy, Bone marrow hypocellularity, Ataxia, Splenomegaly	ORPHA:549
Lymphoproliferative Syndrome 2	Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:615122
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesi...	OMIM:608836
Myopathy, Mitochondrial, And Ataxia	Short stature, Growth delay, Pallor, Hyperthyroidism, Increased circulating prolactin concentration	OMIM:617675
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Lymphadenopathy, Splenomegaly	OMIM:619375
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Postnatal growth retardation, Death in childhood, Hypertension, Pulmonary arterial hypertension, ...	OMIM:613320
Renal Agenesis	Pulmonary hypoplasia, Ventricular septal defect, Hypertension	ORPHA:411709
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respiratory tract infections	OMIM:619170
Ras-Associated Autoimmune Leukoproliferative Disorder	Follicular hyperplasia, Splenomegaly	OMIM:614470
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Abnormal B cell morphology, Hypoparathyroi...	OMIM:618223
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Cerebellar hypoplasia, Recurrent pneumonia	ORPHA:3137
Sandhoff Disease	Hepatomegaly, Death in childhood, Orthostatic hypotension, Hepatosplenomegaly, Cardiomegaly	OMIM:268800
Craniofaciofrontodigital Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Cardiomegaly...	ORPHA:363705
Good Syndrome	Anemia, Mediastinal lymphadenopathy, Abnormal leukocyte morphology, Decreased circulating antibod...	ORPHA:169105
Cutis Laxa, Autosomal Recessive, Type Ia	Emphysema, Aortic regurgitation, Redundant skin, Cutis laxa, Umbilical hernia, Recurrent respirat...	OMIM:219100
Oculoauriculovertebral Spectrum With Radial Defects	Short stature, Atrioventricular canal defect, Maternal diabetes, Aplasia/Hypoplasia of the lungs	ORPHA:2549
Thanatophoric Dysplasia Type 1	Excessive wrinkled skin, Redundant skin, Atrial septal defect, Lethal short-limbed short stature,...	ORPHA:1860
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec...	ORPHA:439
Holoprosencephaly	Encephalocele, Diabetes insipidus, Anterior hypopituitarism, Branchial anomaly, Dandy-Walker malf...	ORPHA:2162
Fanconi Renotubular Syndrome 5	Hypertension, Emphysema, Lung adenocarcinoma, Pulmonary fibrosis	OMIM:618913
Hemophagocytic Lymphohistiocytosis, Familial, 1	Lymphadenopathy, Irritability, Ataxia, Splenomegaly	OMIM:267700
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating thyroid-stimulating hormone concentration, Congestive heart failure, Hepatom...	OMIM:256040
Mevalonic Aciduria	Fluctuating splenomegaly, Progressive cerebellar ataxia, Lymphadenopathy, Attenuation of retinal ...	OMIM:610377
Aggressive Systemic Mastocytosis	Anorexia, Hypersplenism, Hepatosplenomegaly, Lymphadenopathy	ORPHA:98850
Acrorenal-Mandibular Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia, Absent nipple	OMIM:200980
Meier-Gorlin Syndrome 4	Breast hypoplasia, Emphysema, Cryptorchidism, Short stature, Intrauterine growth retardation, Bir...	OMIM:613804
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Immunodeficiency 7	Splenomegaly, Lymphadenopathy	OMIM:615387
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia, Chylothorax, Death in infancy	OMIM:619036
Griscelli Syndrome Type 2	Splenomegaly, Lymphadenopathy	ORPHA:79477
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy	ORPHA:911
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Abnormal pulmonary interstitial morphology, Skin ulcer, Anemia, Cholelithiasis, ...	ORPHA:2072
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Dysgammaglobulinemia, B lymphocytopenia, Recurrent bronchitis, T lym...	OMIM:251260
Cinca Syndrome	Lymphadenopathy, Retrobulbar optic neuritis, Splenomegaly, Pseudopapilledema	ORPHA:1451
Purine Nucleoside Phosphorylase Deficiency	Ataxia, Lymph node hypoplasia, Splenomegaly	OMIM:613179
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia	ORPHA:85447
Hemophagocytic Lymphohistiocytosis, Familial, 2	Irritability, Lymphadenopathy, Ataxia, Hepatosplenomegaly, Splenomegaly	OMIM:603553
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Anemia, Lymphadenopathy, B lymphocytopenia, Bronchitis, Decrease...	OMIM:619381
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Lymphadenopathy, Splenomegaly, Follicular hyperplasia	OMIM:603909
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Immunodeficiency 68	Abnormal natural killer cell count, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Abscess	OMIM:612260
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:83313
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Absent tonsils, Lymph node hypoplasia	ORPHA:276
Thoracoabdominal Syndrome	Ectopia cordis, Transposition of the great arteries, Pulmonary hypoplasia, Anencephaly	OMIM:313850
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure, Macroorchidism	OMIM:300886
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Delayed puberty, Decreased response to growth hormone stimulation test, Panhypogammaglobulinemia,...	OMIM:307200
Goodpasture Syndrome	Anemia, Reticular pattern on pulmonary HRCT, Hemosiderin-laden macrophages in bronchoalveolar flu...	OMIM:233450
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Atelectasis, Lymphadenopathy, Rectal abscess, Pleural effusion, Lymp...	OMIM:306400
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Decreas...	ORPHA:221139
Mucopolysaccharidosis Type 3	Abnormal aortic valve morphology, Hepatomegaly, Adenoiditis, Reduced left ventricular ejection fr...	ORPHA:581
Sweeney-Cox Syndrome	Cerebellar hypoplasia, Patent foramen ovale, Bilateral cryptorchidism, Asplenia	OMIM:617746
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Enlarged kidney, Pulmonary edema, Bradycardia, ST segment elevation, Ca...	OMIM:261740
Renal Agenesis, Bilateral	Pulmonary hypoplasia, Sirenomelia	ORPHA:1848
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Ehlers-Danlos Syndrome, Vascular Type	Pneumothorax, Hemothorax, Anemia, Emphysema, Pulmonary bulla, Repeated pneumothoraces, Spontaneou...	OMIM:130050
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly	OMIM:618935
Whim Syndrome	Atelectasis, Parotitis, Decreased circulating antibody level, Lymphadenitis, Abnormal neutrophil ...	ORPHA:51636
Wolf-Hirschhorn Syndrome	Abnormality of the gallbladder, Recurrent respiratory infections, Abnormal heart valve morphology...	ORPHA:280
Verloove Vanhorick-Brubakk Syndrome	Abnormality of the parathyroid gland, Cryptorchidism, Aplasia/Hypoplasia of the lungs	ORPHA:3429
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy	ORPHA:85414
Autosomal Dominant Cutis Laxa	Postnatal growth retardation, Congestive heart failure, Redundant neck skin, Emphysema, Premature...	ORPHA:90348
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Blomstrand Lethal Chondrodysplasia	Neonatal short-limb short stature, Pulmonary hypoplasia, Rhizomelia	ORPHA:50945
Immunodeficiency 91 And Hyperinflammation	Hepatosplenomegaly, Lymphadenopathy	OMIM:619644
Bohring-Opitz Syndrome	Annular pancreas, Cholelithiasis, Bradycardia, Dandy-Walker malformation, Short stature, Agenesis...	ORPHA:97297
Zygomycosis	Myocarditis, Hematemesis, Gastrointestinal hemorrhage, Pneumothorax, Pancreatitis, Melena, Atelec...	ORPHA:73263
Focal Dermal Hypoplasia	Abnormality of the pulmonary vasculature, Aplasia/Hypoplasia of the lungs, Spina bifida, Acute he...	ORPHA:2092
Sézary Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:3162
Nocardiosis	Pneumothorax, Abnormality of the adrenal glands, Liver abscess, Emphysema, Pleuritis, Abnormal he...	ORPHA:31204
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Cardiac conduction abnormality, Arrhythmia, Pallor, Abnormal T-wave	ORPHA:2131
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Lymphangioleiomyomatosis	Pneumothorax, Gastrointestinal hemorrhage, Atelectasis, Emphysema, Recurrent respiratory infectio...	ORPHA:538
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormal lung lobation, Cryptorchidism, Aplasia/Hypoplasia of the lungs	ORPHA:2063
Fraser Syndrome 2	Hypoplasia of the thymus	OMIM:617666
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Heart block, Cerebellar vermis hypoplasia, Cardiomyopathy, Abnormal myocardium morp...	ORPHA:228308
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Abnormal heart morphology, Pulmonary hypoplasia, Abnormal thymus...	OMIM:219000
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Congenital hypothyroidism	ORPHA:88643
Nephroblastoma	Lymphadenopathy	ORPHA:654
Agammaglobulinemia 1, Autosomal Recessive	Panhypogammaglobulinemia, Recurrent respiratory infections, B lymphocytopenia, Rectal abscess, De...	OMIM:601495
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Complete or near-complete absence of specific ...	OMIM:607676
Cutis Laxa, Autosomal Dominant 1	Congestive heart failure, Emphysema, Aortic regurgitation, Redundant skin, Peripheral pulmonary a...	OMIM:123700
Acute Promyelocytic Leukemia	Anorexia, Addictive alcohol use, Lymphadenopathy	ORPHA:520
Hyperimmunoglobulinemia D With Periodic Fever	Ataxia, Lymphadenopathy	ORPHA:343
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Chediak-Higashi Syndrome	Lymphadenopathy, Gait disturbance, Ataxia, Splenomegaly, Macular hypoplasia, Ocular albinism	OMIM:214500
Acute Monoblastic/Monocytic Leukemia	Anorexia, Cervical lymphadenopathy	ORPHA:514
Hyper-Igd Syndrome	Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Rod-cone dystrophy, Optic disc ...	OMIM:260920
Cantu Syndrome	Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle, Umbilical ...	OMIM:239850
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Pulmonary artery aneurysm, Death in childhood, Emphysema, Bradycardia, P...	OMIM:614437
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P...	OMIM:601214
Hydrolethalus Syndrome 1	Abnormal lung lobation, Stillbirth, Adrenal gland dysgenesis, Anencephaly, Accessory spleen, Dand...	OMIM:236680
Tetraamelia-Multiple Malformations Syndrome	Abnormal lung lobation, Cryptorchidism, Aplasia/Hypoplasia of the lungs, Agenesis of corpus callosum	ORPHA:3301
Cyclic Neutropenia	Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis	ORPHA:2686
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Short stature, Aplasia of the thymus	ORPHA:3004
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r...	ORPHA:324410
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:255120
Immunodeficiency 97 With Autoinflammation	Lymphadenopathy, Mediastinal lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:619802
Monosomy 22	Hypochromic microcytic anemia, Hepatosplenomegaly, Aplasia of the thymus	ORPHA:96123
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Disproportionate short-limb short stature, Dandy-Walker malformation, Congenital hepatic fibrosis...	ORPHA:93271
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Spontan...	OMIM:187300
Arterial Calcification, Generalized, Of Infancy, 2	Congestive heart failure, Reduced left ventricular ejection fraction, Hypertension, Sinus tachyca...	OMIM:614473
Cherubism	Marcus Gunn pupil, Macular scar, Optic neuropathy, Submandibular lymph node enlargement	OMIM:118400
Abetalipoproteinemia	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:14
Neonatal Marfan Syndrome	Tricuspid valve prolapse, Emphysema, Abnormal cardiac ventricle morphology, Tricuspid regurgitati...	ORPHA:284979
Meckel Syndrome	Situs inversus totalis, Anencephaly, Encephalocele, Accessory spleen, Dandy-Walker malformation, ...	ORPHA:564
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Syncope, Myocardial necrosis, Atrial ar...	OMIM:300257
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Lymphadenopathy	OMIM:619183
Diffuse Cutaneous Mastocytosis	Lymphadenopathy, Abnormality of the spleen	ORPHA:79456
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Optic neuritis, Splenomegaly, Lymphadenopathy	ORPHA:436159
Zttk Syndrome	Dysplastic corpus callosum, Aortic regurgitation, Short stature, Growth delay, Unilateral lung ag...	OMIM:617140
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cerebellar vermis atrophy, Cerebellar atrophy, Hypoplasia of the pons, Umbilical he...	OMIM:618143
Graft Versus Host Disease	Irritability, Hepatosplenomegaly, Lymphadenopathy	ORPHA:39812
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85450
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Atelectasis, Left ventricular outflow tract obstruction, Vasculitis, Transient isch...	ORPHA:365
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphadenopathy, Splenomegaly	OMIM:616100
Tay-Sachs Disease	Pallor	OMIM:272800
Fraser Syndrome	Abnormal lung lobation, Encephalocele, Myelomeningocele, Death in infancy, Pulmonary hypoplasia, ...	ORPHA:2052
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Congestive heart failure, Increased hepatic glycogen content, Cardiomyopathy, Cerebellar atrophy,...	OMIM:619259
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Immunodeficiency 10	Lymphadenopathy, Splenomegaly	OMIM:612783
Neuroendocrine Tumor Of The Colon	Anorexia, Chronic noninfectious lymphadenopathy	ORPHA:100080
Castleman Disease	Lymphadenopathy, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:160
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Large placenta, Abnormal pancreas morphology, Redundant skin, Visc...	ORPHA:116
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy	ORPHA:97289
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Pulmonary hypoplasia	OMIM:271520
Carney Triad	Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Loeys-Dietz Syndrome 4	Pneumothorax, Emphysema, Cutis laxa, Mitral valve prolapse, Bicuspid aortic valve, Striae distensae	OMIM:614816
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Pulmonary edema, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction	OMIM:105210
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Dysplastic corpus callosum, Ischemic stroke, Emphysema, Transient ischemic attack, Secretory IgA ...	ORPHA:500150
Ulbright-Hodes Syndrome	Postnatal growth retardation, Pneumothorax, Maternal diabetes, Severe intrauterine growth retarda...	ORPHA:3404
Feingold Syndrome 1	Annular pancreas, Tricuspid atresia, Accessory spleen, Tricuspid stenosis, Asplenia, Ventricular ...	OMIM:164280
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na...	OMIM:600376
Behçet Disease	Anorexia, Irritability, Lymphadenopathy, Optic neuritis, Gait disturbance, Retinopathy, Ataxia, S...	ORPHA:117
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Hepatosplenomegaly, Lymphadenopathy	ORPHA:169154
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Refsum Disease, Classic	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia	OMIM:266500
Meier-Gorlin Syndrome 6	Delayed puberty, Decreased response to growth hormone stimulation test, Emphysema, Severe short s...	OMIM:616835
Farber Disease	Macular degeneration, Hepatosplenomegaly, Cherry red spot of the macula, Lymphadenopathy	ORPHA:333
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Combined Immunodeficiency Due To Crac Channel Dysfunction	Lymphadenopathy, Splenomegaly	ORPHA:169090
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Cardiomegaly, Aortic regurgitation, Cerebellar atrophy, Partial atriove...	OMIM:620066
Genitopatellar Syndrome	Cryptorchidism, Hypothyroidism, Pulmonary hypoplasia, Colpocephaly, Agenesis of corpus callosum, ...	OMIM:606170
Hsd10 Disease, Infantile Type	Cardiomegaly, Hypertrophic cardiomyopathy	ORPHA:391428
Hereditary Hemorrhagic Telangiectasia	Tongue telangiectasia, Gastrointestinal hemorrhage, Nasal mucosa telangiectasia, Epistaxis, Chole...	ORPHA:774
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Neonatal all...	ORPHA:51
Meier-Gorlin Syndrome 1	Breast hypoplasia, Emphysema, Death in infancy, Cryptorchidism, Intrauterine growth retardation, ...	OMIM:224690
Proteus Syndrome	Abnormal lung lobation, Bronchogenic cyst, Enlarged kidney, Sirenomelia, Ovarian neoplasm, Pulmon...	ORPHA:744
Familial Pancreatic Carcinoma	Anorexia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:1333
Mixed Connective Tissue Disease	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:809
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Pneumothorax, Ischemic stroke, Cardiomegaly, Aortic regurgitation, Hypertension, Transient ischem...	ORPHA:91387
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Cardiomegaly, Intrauterine ...	ORPHA:158687
Neuroendocrine Tumor Of The Rectum	Anorexia, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Chronic noninfectious lymphadenopathy	ORPHA:100082
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly	OMIM:308230
Interatrial Communication	Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
Macrophage Activation Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:158061
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Penile Agenesis	Maternal diabetes, Bilateral lung agenesis, Cryptorchidism, Pulmonary hypoplasia, Atrial septal d...	ORPHA:49
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Familial Hemophagocytic Lymphohistiocytosis	Lymphadenopathy, Splenomegaly	ORPHA:540
Lig4 Syndrome	Lymphadenopathy	ORPHA:99812
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Lymphadenopathy	OMIM:304790
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Fucosidosis	Cardiomegaly, Hepatomegaly, Hypothyroidism, Abnormality of the gallbladder	ORPHA:349
Mckusick-Kaufman Syndrome	Cryptorchidism, Pulmonary hypoplasia	OMIM:236700
Paternal Uniparental Disomy Of Chromosome 6	Postnatal growth retardation, Hepatomegaly, Cryptorchidism, Precocious puberty, Umbilical hernia,...	ORPHA:96191
Pallister-Killian Syndrome	Stillbirth, Rhizomelia, Mesomelic/rhizomelic limb shortening, Hypertrophic cardiomyopathy, Crypto...	OMIM:601803
Marfan Syndrome	Congestive heart failure, Tricuspid valve prolapse, Abnormal left ventricular function, Emphysema...	ORPHA:558
Poems Syndrome	Lymphadenopathy, Papilledema, Splenomegaly	ORPHA:2905
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:615895
Marfan Syndrome	Pneumothorax, Congestive heart failure, Tricuspid valve prolapse, Emphysema, Mitral annular calci...	OMIM:154700
Chédiak-Higashi Syndrome	Lymphadenopathy, Inability to walk, Gait disturbance, Abnormality of retinal pigmentation, Ataxia...	ORPHA:167
Pituitary Adenoma 4, Acth-Secreting	Emotional lability, Abnormal fear-induced behavior	OMIM:219090
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Anemia, Epistaxis, Hematochezia, Mitral valve prolapse, Pulmo...	OMIM:175050
Riddle Syndrome	Emotional lability, Generalized lymphadenopathy, Ataxia, Gait disturbance	ORPHA:420741
Viss Syndrome	Pulmonary artery aneurysm, Coronary sinus enlargement, Cutis laxa, Mitral valve prolapse, Umbilic...	OMIM:619472
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Rhizomelia, Patent foramen ovale, Cutis laxa, Short stature, Mitral valve ...	OMIM:245600
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Enlarged cerebellum, Chiari type I malformation, Cerebellar vermis hypoplasia, Decreased circulat...	ORPHA:261537
Gallbladder Neuroendocrine Tumor	Anorexia, Chronic noninfectious lymphadenopathy	ORPHA:100086
Familial Aortic Dissection	Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation	ORPHA:229
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy	ORPHA:93552
Pseudoaminopterin Syndrome	Short stature, Patent foramen ovale, Cryptorchidism, Asplenia	ORPHA:221120
Tetraamelia Syndrome 2	Hypoplastic pulmonary veins, Ventricular septal defect, Absent nipple, Bilateral lung agenesis	OMIM:618021
Leptospirosis	Anorexia, Lymphadenopathy, Optic neuritis, Chorioretinitis, Macular cotton wool spot, Retinal hem...	ORPHA:509
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphadenopathy	ORPHA:139402
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Pulmonary hypoplasia	ORPHA:1112
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphadenopathy, Splenomegaly	OMIM:617591
Williams Syndrome	Redundant skin, Hypertension, Cerebral ischemia, Pulmonic stenosis, Mitral valve prolapse, Umbili...	ORPHA:904
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Pulmonic stenosis, Aortic valve stenosis, Hyphema, Abnormal heart morphology, Lateral ventricle d...	ORPHA:261552
Keutel Syndrome	Emphysema, Recurrent bronchitis, Miscarriage, Hypertension, Pulmonary artery hypoplasia, Pulmonic...	OMIM:245150
Systemic Lupus Erythematosus	Retinopathy, Depression, Lymphadenopathy, Anorexia	ORPHA:536
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy	OMIM:617099
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy	ORPHA:2035
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:233710
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Atelectasis, Dextrocardia, Pulmonary arterial hypertension, Bronchiectasi...	OMIM:615067
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Delayed puberty, Dysplastic corpus callosum, Patent foramen ovale, Ventricular septal defect, Cry...	OMIM:300967
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Umbilical hernia	ORPHA:1517
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:233690
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Mucosal telangiectasiae, Abnormal thymus morphology	ORPHA:2463
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Aorta Coarctation	Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left v...	ORPHA:1457
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cerebellar dysplasia, Cerebellar hypoplasia, Pallor, Cerebellar cyst	OMIM:253280
African Trypanosomiasis	Irritability, Akinesia, Difficulty walking, Lymphadenopathy, Optic neuritis, Gait disturbance, Pa...	ORPHA:3385
Craniofacial Microsomia 1	Occipital encephalocele, Branchial anomaly, Tetralogy of Fallot, Pulmonary hypoplasia, Agenesis o...	OMIM:164210
H Syndrome	Hepatosplenomegaly, Lymphadenopathy	ORPHA:168569
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy	ORPHA:293173
Familial Mediterranean Fever	Depression, Lymphadenopathy, Splenomegaly	ORPHA:342
Mowat-Wilson Syndrome	Enlarged cerebellum, Cerebellar vermis hypoplasia, Decreased circulating antibody level, Asplenia...	ORPHA:2152
Arterial Calcification, Generalized, Of Infancy, 1	Congestive heart failure, Hypertension, Short stature, Cardiomegaly, Dilated cardiomyopathy, Myoc...	OMIM:208000
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Coccidioidomycosis	Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the spleen, Abnormal retinal morphology	ORPHA:228123
Chikungunya	Depression, Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Blau Syndrome	Lymphadenopathy, Abnormal optic nerve morphology, Retinopathy, Splenomegaly, Abnormal retinal vas...	ORPHA:90340
Selective Igm Deficiency	Lymphadenitis, Lymphadenopathy	ORPHA:331235
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:37042
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Lymphadenopathy	OMIM:617718
Yunis-Varon Syndrome	Postnatal growth retardation, Redundant neck skin, Hypertension, Cardiomyopathy, Pulmonary arteri...	ORPHA:3472
Hennekam Syndrome	Lymphadenopathy, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia	ORPHA:2136
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Reduced left ventricular ejection fraction, Right bundle branch block, Right ventricular hypertro...	ORPHA:268
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy	OMIM:607944
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv...	ORPHA:353281
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Autoimmune Lymphoproliferative Syndrome	Lymphadenopathy, Chronic noninfectious lymphadenopathy, Bone marrow hypocellularity, Splenomegaly...	ORPHA:3261
Crimean-Congo Hemorrhagic Fever	Anorexia, Agitation, Lymphadenopathy, Emotional lability, Retinal hemorrhage, Splenomegaly	ORPHA:99827
Multiple Myeloma	Lymphadenopathy, Splenomegaly	ORPHA:29073
Immunodeficiency 31C	Lymphadenopathy, Splenomegaly	OMIM:614162
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Dandy-Walker malformation, Cardiomyopathy, Hepatoblastoma, Pancrea...	OMIM:130650
Marburg Hemorrhagic Fever	Anorexia, Lethargy, Lymphadenopathy, Aggressive behavior	ORPHA:99826
Primary Sjögren Syndrome	Depression, Optic neuritis, Lymphadenopathy	ORPHA:289390
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Tangier Disease	Orange discolored tonsils, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy	ORPHA:31150
Plague	Anorexia, Depression, Lymphadenitis, Unsteady gait, Splenomegaly, Enlarged mesenteric lymph node	ORPHA:707
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:32960
Igg4-Related Dacryoadenitis And Sialadenitis	Lymphadenopathy, Optic nerve compression, Abnormal optic nerve morphology	ORPHA:79078
Microphthalmia, Syndromic 1	Bicuspid aortic valve, Cryptorchidism, Pulmonary hypoplasia, Growth delay	OMIM:309800
Cushing Syndrome Due To Ectopic Acth Secretion	Anorexia, Abnormal lymph node morphology, Emotional lability, Depression, Neoplasm of the thymus	ORPHA:99889
Sotos Syndrome	Small cell lung carcinoma, Cerebellar vermis hypoplasia, Cryptorchidism, Hypothyroidism, Prolonge...	ORPHA:821
Ileal Neuroendocrine Tumor	Lymphadenopathy	ORPHA:100078
Igg4-Related Ophthalmic Disease	Lymphadenopathy, Abnormal optic nerve morphology	ORPHA:449563
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv...	ORPHA:353277
Igg4-Related Kidney Disease	Lymphadenitis, Lymphadenopathy	ORPHA:449395
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Igg4-Related Submandibular Gland Disease	Lymphadenopathy	ORPHA:449432
Generalized Arterial Calcification Of Infancy	Left ventricular systolic dysfunction, Ventricular hypertrophy, Hypertension, Transient ischemic ...	ORPHA:51608
Singleton-Merten Syndrome 1	Congestive heart failure, Pleural effusion, Mitral valve calcification, Aortic valve stenosis, Sh...	OMIM:182250
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia	ORPHA:79280

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Eye - MPATH pathological process term dysplasia	Fubp1^em1(IMPC)Mbp	HET		Early adult

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 Fubp1.

No publications found that use IMPC mice or data for Fubp1.

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

MGI Allele	Allele Type	Produced
Fubp1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Fubp1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

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: Fubp1 MGI:1196294

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

MicroCT E14.5-E15.5

X-ray

Human diseases caused by Fubp1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data