Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated ... |
OMIM:614372 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... |
OMIM:613860 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections |
OMIM:608957 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Peritonitis, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent cutaneous fungal infections, Chronic mucocutaneous ca... |
OMIM:613953 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Recurrent bacterial infections, Recurrent otitis media, Recurrent lower respiratory tra... |
OMIM:613501 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Recurrent mycobacterial infections, BCGosis, Coccidioid... |
ORPHA:319552 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Complement Component 5 Deficiency |
|
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Dysplasia Epiphysealis Hemimelica |
|
Overgrowth |
OMIM:127800 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ... |
OMIM:613500 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... |
OMIM:605258 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age |
ORPHA:356996 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age |
OMIM:256450 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Recurre... |
OMIM:613493 |
Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent viral infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Se... |
OMIM:614868 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec... |
OMIM:300310 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age |
OMIM:601820 |
Bare Lymphocyte Syndrome, Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... |
OMIM:209920 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, Recurrent pneumonia, Recurrent bacterial infections, Recurrent otitis media, Recurrent ... |
OMIM:612692 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Immunodeficiency, Common Variable, 2 |
|
Diarrhea, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent oti... |
OMIM:240500 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia |
OMIM:613502 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Obesity And Hypopigmentation |
|
Overgrowth, Obesity |
OMIM:620195 |
Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilic infiltration of the esophagus, Recurrent viral i... |
OMIM:243700 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity |
OMIM:608320 |
Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections |
OMIM:607676 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections |
OMIM:193670 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Invasive f... |
ORPHA:83471 |
Immunodeficiency, Common Variable, 1 |
|
Diarrhea, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent oti... |
OMIM:607594 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio... |
ORPHA:911 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent infections, Recurrent bacterial infections, Recurrent fu... |
ORPHA:2688 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections |
OMIM:616873 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Recurrent herpes, Recurrent viral infections, Diarrhea, Recurre... |
ORPHA:572 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections |
OMIM:300299 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Severe recurrent varicella, Diarrhea, Recu... |
ORPHA:276 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
Adiposis Dolorosa |
|
Obesity |
OMIM:103200 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Invasive fungal infection, Recurrent mycobacterial infections, Chronic diarrhea, Severe viral inf... |
ORPHA:98813 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic diarrh... |
OMIM:116920 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
ORPHA:169079 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight |
OMIM:620065 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent Haemophilus influenzae infections, Recurrent mening... |
OMIM:610984 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Large for gestational age |
OMIM:617119 |
Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Sepsis, Recurrent bacterial infections, Recurrent otitis media, Intractable ... |
OMIM:617475 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity |
ORPHA:88643 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Chronic diarrhea, Recurrent pneumonia, Recurrent bacterial infe... |
OMIM:601495 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613496 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bacterial infec... |
ORPHA:169090 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections |
OMIM:202700 |
Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,... |
ORPHA:331235 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Pallor |
OMIM:613561 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Diarrhe... |
ORPHA:486 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recur... |
OMIM:147060 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Recurrent urinary tract infections, Recurrent respiratory in... |
ORPHA:183675 |
Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233710 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Chronic diarrhea, Recurrent upper respiratory tract infections, Persisten... |
OMIM:616005 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:233690 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor |
ORPHA:49827 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent aphthous ... |
OMIM:615468 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Obesity |
OMIM:614651 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
Bardet-Biedl Syndrome 8 |
|
Obesity |
OMIM:615985 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Diarrhea, Sepsis, Recurrent bacterial infections, Chronic oral candidiasis, Stomatitis, Recurrent... |
OMIM:308230 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity |
ORPHA:329249 |
Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent viral infections, Severe varicella zoster infection, ... |
OMIM:606367 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent viral infections, Protracted diarrhea, Recurrent bacterial infections, Recurrent fungal... |
ORPHA:331206 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor |
OMIM:615631 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:619693 |
Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Recurrent viral in... |
OMIM:614172 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased body weight |
OMIM:614450 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Sepsis |
OMIM:612840 |
Congenital Heart Block |
|
Pallor |
ORPHA:60041 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Large for gestational age |
ORPHA:293964 |
Omenn Syndrome |
|
Recurrent bacterial infections, Diarrhea, Recurrent fungal infections, Recurrent viral infections |
OMIM:603554 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Recurrent viral infections, Recurrent opportunistic infection... |
OMIM:613179 |
Primary Myelofibrosis |
|
Ecchymosis, Pallor, Petechiae, Purpura |
ORPHA:824 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:618048 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Hb Bart'S Hydrops Fetalis |
|
Pallor |
ORPHA:163596 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections |
OMIM:603585 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor |
OMIM:611590 |
Idiopathic Bronchiectasis |
|
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor |
ORPHA:3226 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor |
OMIM:600462 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Increased body weight |
ORPHA:589905 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Serratia marcesc... |
OMIM:306400 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight |
OMIM:615954 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity |
OMIM:603233 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Pgm3-Cdg |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent pneumonia, Sepsis, Recurr... |
ORPHA:443811 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor |
OMIM:615234 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in... |
OMIM:615816 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Chronic diarrhea, Sepsis, Recurrent bacterial infections, Gas... |
OMIM:617053 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum |
OMIM:300291 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Hypocomplementemic Urticarial Vasculitis |
|
Recurrent bacterial infections, Diarrhea, Meningitis |
ORPHA:36412 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor |
ORPHA:99931 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Diarrhe... |
ORPHA:221139 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
Fanconi Anemia, Complementation Group I |
|
Pallor |
OMIM:609053 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight |
OMIM:274300 |
American Trypanosomiasis |
|
Pallor |
ORPHA:3386 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent viral infections, Diarrhea, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneou... |
OMIM:102700 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Narcolepsy 7 |
|
Obesity |
OMIM:614250 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent pneumonia, Recurrent bacterial infections, Gastroesophageal reflux, Recurrent abscess f... |
OMIM:608233 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity |
OMIM:617885 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Blue Diaper Syndrome |
|
Increased body weight |
ORPHA:94086 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections |
OMIM:244460 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Overgrowth, Small for gestational age, Large for gestational age |
ORPHA:254534 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Meconium ileus, Recurrent Bur... |
ORPHA:586 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
Postinfectious Vasculitis |
|
Persistent human papillomavirus infection, Severe varicella zoster infection, Invasive fungal inf... |
ORPHA:48435 |
Sepsis In Premature Infants |
|
Pallor, Petechiae, Purpura |
ORPHA:90051 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Chronic diarrhea, Steatorrhea |
ORPHA:2176 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor |
ORPHA:98870 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Pallor |
OMIM:266200 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hematochezia, Recurrent bacterial infections, Inflammation of the large intestine, Chronic diarrhea |
OMIM:615895 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Hereditary Spherocytosis |
|
Pallor, Skin ulcer |
ORPHA:822 |
Whim Syndrome |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Recurrent bacterial in... |
ORPHA:51636 |
Dominant Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:231226 |
Beta-Ketothiolase Deficiency |
|
Pallor |
ORPHA:134 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent ... |
OMIM:612541 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Waldenström Macroglobulinemia |
|
Pallor, Purpura |
ORPHA:33226 |
Proprotein Convertase 1/3 Deficiency |
|
Obesity |
OMIM:600955 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Smith-Magenis Syndrome |
|
Increased body weight |
OMIM:182290 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Chédiak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Recurrent staphylococcal i... |
ORPHA:167 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Pallor |
ORPHA:300298 |
Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
Primary Ciliary Dyskinesia |
|
Recurrent otitis media, Recurrent sinopulmonary infections, Recurrent mycobacterial infections |
ORPHA:244 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Recurrent viral infections, Secretory diarrhea, Se... |
OMIM:619573 |
Vici Syndrome |
|
Recurrent respiratory infections, Recurrent viral infections, Chronic mucocutaneous candidiasis, ... |
OMIM:242840 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Pallor |
ORPHA:20 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Panhypophysitis |
|
Pallor |
ORPHA:95513 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
Beta-Thalassemia Major |
|
Pallor, Skin ulcer |
ORPHA:231214 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Wilson Disease |
|
Failure to thrive, Increased body weight, Weight loss |
ORPHA:905 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections |
OMIM:248500 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor |
ORPHA:98849 |
Immunodeficiency 47 |
|
Recurrent bacterial infections, Chronic diarrhea, Recurrent infections, Exocrine pancreatic insuf... |
OMIM:300972 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Fumarase Deficiency |
|
Pallor |
OMIM:606812 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
Incontinentia Pigmenti |
|
Erythema, Pallor |
OMIM:308300 |
Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
Chediak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Recurrent infections |
OMIM:214500 |
Glycogen Storage Disease Ib |
|
Recurrent bacterial infections, Inflammation of the large intestine |
OMIM:232220 |
Insulinoma |
|
Increased body weight |
ORPHA:97279 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased body weight |
OMIM:615830 |
Leukocyte Adhesion Deficiency |
|
Recurrent urinary tract infections, Recurrent staphylococcal infections, Peritonitis, BCGosis, Re... |
ORPHA:2968 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor |
OMIM:557000 |
Diamond-Blackfan Anemia 1 |
|
Spina bifida occulta, Pallor |
OMIM:105650 |
Shwachman-Diamond Syndrome |
|
Recurrent viral infections, Sepsis, Recurrent bacterial infections, Steatorrhea, Exocrine pancrea... |
ORPHA:811 |
Sickle Cell Disease |
|
Recurrent bacterial infections |
OMIM:603903 |
Sotos Syndrome |
|
Overgrowth, Increased body weight, Tall stature |
OMIM:117550 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Diarrhea, Enterocolitis, Ulcerative colitis, Recurrent bacterial infections, Inflammation of the ... |
ORPHA:79259 |
Esophageal Atresia |
|
Pallor |
ORPHA:1199 |
Idiopathic Hypereosinophilic Syndrome |
|
Pallor |
ORPHA:3260 |
Histiocytoid Cardiomyopathy |
|
Pallor |
ORPHA:137675 |
Retinitis Pigmentosa 74 |
|
Obesity |
OMIM:616562 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor |
ORPHA:329971 |
Fanconi Anemia, Complementation Group E |
|
Anemic pallor |
OMIM:600901 |
Tsh-Secreting Pituitary Adenoma |
|
Pallor |
ORPHA:91347 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor |
OMIM:227650 |
Degcags Syndrome |
|
Pallor |
OMIM:619488 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pallor |
ORPHA:544482 |
Fanconi Anemia, Complementation Group C |
|
Anemic pallor |
OMIM:227645 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor |
ORPHA:653 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Increased body weight |
ORPHA:398069 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Diamond-Blackfan Anemia |
|
Pallor |
ORPHA:124 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Abdominal obesity, Increased body weight |
ORPHA:189427 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Increased body weight |
ORPHA:264580 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor |
OMIM:227646 |
Lysinuric Protein Intolerance |
|
Recurrent bacterial infections, Diarrhea, Vomiting, Steatorrhea |
ORPHA:470 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pallor |
ORPHA:667 |
Von Hippel-Lindau Disease |
|
Pallor |
ORPHA:892 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Increased body weight |
ORPHA:79240 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss |
ORPHA:2298 |
Primary Sclerosing Cholangitis |
|
Recurrent systemic pyogenic infections, Ulcerative colitis |
ORPHA:171 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent infections |
ORPHA:2273 |
Hellp Syndrome |
|
Increased body weight |
ORPHA:244242 |
Cushing Disease |
|
Truncal obesity, Abdominal obesity, Increased body weight |
ORPHA:96253 |
Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Pallor |
ORPHA:99125 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Truncal obesity, Abdominal obesity, Increased body weight, Weight loss |
ORPHA:99889 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent Staphylococcus aureus infections, Dysphagia |
ORPHA:642 |
Carney Complex |
|
Abdominal obesity, Increased body weight, Tall stature |
ORPHA:1359 |
Cleft Lip/Palate |
|
Recurrent otitis media, Oral-pharyngeal dysphagia |
ORPHA:199306 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Atrophic gastritis |
OMIM:137215 |
Blepharo-Cheilo-Odontic Syndrome |
|
|
ORPHA:1997 |
Ovarian Cancer |
|
|
OMIM:167000 |
Endometrial Cancer |
|
|
OMIM:608089 |
Prostate Cancer |
|
|
OMIM:176807 |
Breast Cancer |
|
|
OMIM:114480 |