Familial Alzheimer-Like Prion Disease |
|
Cognitive impairment, Depression, Deficit in phonologic short-term memory, Anxiety, Attention def... |
ORPHA:280397 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:300511 |
Mannose-Binding Lectin Deficiency |
|
Failure to thrive, Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated... |
OMIM:614372 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:256450 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Premature Ovarian Failure 15 |
|
Oligomenorrhea |
OMIM:618096 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... |
OMIM:601820 |
Estrogen Resistance |
|
Hyperinsulinemia, Glucose intolerance, Primary amenorrhea, Impaired glucose tolerance |
OMIM:615363 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Mental deterioration, Depression, Anxiety, Difficulty walking, Attention defic... |
OMIM:619191 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Asherman Syndrome |
|
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Anxiety, Inappropriate behavior, Falls, Memory impairment, Shuffling gait, Motor deterior... |
ORPHA:412066 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Hyperinsulinemia, Hypergonad... |
ORPHA:66628 |
Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Hyperinsulinemia, Oligomenorrhea, Abnormal circulating hormone concentration, Insuli... |
ORPHA:280356 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... |
ORPHA:293964 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessive insulin res... |
ORPHA:324575 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Recurrent bacterial infections, Recurrent respiratory infections, Recurrent ot... |
OMIM:616022 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:606762 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Primary amenorrhea, Delayed puberty, Delayed thelarche, Diabetes m... |
OMIM:616033 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, ... |
OMIM:613501 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Immunodeficiency 61 |
|
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr... |
OMIM:300310 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections |
OMIM:308220 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... |
ORPHA:276580 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Apathy, Cognitive impairment, Depression, Anxiety, Athetosis, Dementia |
OMIM:615483 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Secondary amenorrhea... |
ORPHA:3085 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Type II diabetes mellitus, Oligomenorrhea, Primary amenorrhea, Maternal diabete... |
OMIM:604367 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Huntington Disease-Like 1 |
|
Dysmetria, Depression, Anxiety, Aggressive behavior, Unsteady gait, Dementia |
OMIM:603218 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Dif... |
ORPHA:276575 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Chorea, Benign Hereditary |
|
Gait disturbance, Anxiety |
OMIM:118700 |
Hyperostosis Frontalis Interna |
|
Increased circulating prolactin concentration, Obesity, Irregular menstruation, Diabetes mellitus |
OMIM:144800 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... |
ORPHA:171706 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia |
OMIM:618406 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Myelolymphatic Insufficiency |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:310350 |
Retinitis Pigmentosa |
|
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism |
ORPHA:791 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
Mody |
|
Glucose intolerance, Hypoinsulinemia, Abnormal circulating insulin concentration, Hyperinsulinemi... |
ORPHA:552 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections |
OMIM:242870 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestational age, Diab... |
OMIM:262190 |
Immunodeficiency 12 |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:615468 |
Leptin Deficiency Or Dysfunction |
|
Recurrent upper respiratory tract infections, Primary amenorrhea, Decreased serum leptin, Recurre... |
OMIM:614962 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, H... |
ORPHA:79237 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Recurrent cutaneous fungal infections, Recurrent ... |
OMIM:613953 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Hypogonad... |
ORPHA:453533 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Diabetes mellitus |
ORPHA:79084 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections |
OMIM:614868 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Obesity, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Decreased body weight, Primary amenorrhea, Elevated circulating follic... |
OMIM:616185 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Absence of pubertal development, Primary amenorrhea, Absen... |
ORPHA:785 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... |
ORPHA:276556 |
Congenital Generalized Lipodystrophy |
|
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Oligomenorrhea, D... |
ORPHA:528 |
Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... |
OMIM:613860 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Irregular menstruation, Premature ovarian insufficiency |
OMIM:311360 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... |
OMIM:611521 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Premature Ovarian Failure 5 |
|
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... |
OMIM:611548 |
Premature Ovarian Failure 9 |
|
Amenorrhea, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:615724 |
Familial Hyperprolactinemia |
|
Amenorrhea, Infertility, Oligomenorrhea, Menorrhagia, Female hypogonadism |
ORPHA:397685 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Hypersecretion Of Adrenal Androgens, Familial |
|
Amenorrhea, Premature pubarche, Increased circulating androgen concentration, Adrenal overactivity |
OMIM:145295 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Recurrent... |
OMIM:605258 |
Insulin-Resistance Syndrome Type B |
|
Postprandial hyperglycemia, Increased serum testosterone level, Glucose intolerance, Hyperinsulin... |
ORPHA:2298 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Meningitis, Recurrent pneumonia, Recurrent otitis media, Recurren... |
OMIM:613500 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... |
ORPHA:275 |
Cd8 Deficiency, Familial |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:608957 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis |
OMIM:613779 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Glycosuria, Neonatal h... |
ORPHA:263455 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Cognitive impairment, Abnormal emotion/affect behavior, De... |
ORPHA:96369 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia |
OMIM:613494 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Severe failure to thrive, Pancr... |
OMIM:246200 |
Thymic Aplasia |
|
Recurrent candida infections, Failure to thrive, Recurrent streptococcus pneumoniae infections, R... |
ORPHA:83471 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Shuffling gait, Aggressi... |
ORPHA:3077 |
Pituicytoma |
|
Amenorrhea, Abnormality of the pituitary gland, Impotence, Decreased serum testosterone concentra... |
ORPHA:251623 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... |
ORPHA:319552 |
Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Failure to thrive, Recurrent fungal infections, Recurrent bacteri... |
OMIM:209920 |
Alstrom Syndrome |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... |
OMIM:203800 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, Persistent EBV viremia |
OMIM:619437 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections |
OMIM:607624 |
X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Irregular menstruation, ... |
OMIM:619203 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent sinusitis, Recurrent bacterial infections, Recurrent respiratory infections, Recurrent ... |
OMIM:613493 |
Premature Ovarian Failure 11 |
|
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... |
ORPHA:52901 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia |
ORPHA:363400 |
Prolactin Deficiency, Isolated |
|
Infertility, Irregular menstruation, Reduced circulating prolactin concentration |
OMIM:264110 |
Narcolepsy 7 |
|
Narcolepsy, Type II diabetes mellitus, Obesity |
OMIM:614250 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections |
OMIM:233670 |
Ovarian Dysgenesis 10 |
|
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... |
OMIM:619834 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Recurrent sinusitis, Meningitis, Recurrent bronchitis, Recurrent ... |
OMIM:240500 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media |
OMIM:612692 |
Prader-Willi Syndrome |
|
Adrenal insufficiency, Infertility, Abdominal obesity, Type II diabetes mellitus, Hyperinsulinemi... |
OMIM:176270 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent candida infections, Failure to thrive, Recurrent fungal... |
ORPHA:572 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Hypoglycemia, Recurrent hypoglycemia, Weight loss, Hypoinsulinemia |
ORPHA:2126 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Oligomenorrhea, Female infertility, Elevated circulating follicle stimulating hormone... |
OMIM:617442 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Failure to thrive, Recurrent bacterial skin infections, Chronic oral candidiasis, Recurrent cutan... |
ORPHA:276 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
Mpi-Cdg |
|
Hypothyroidism, Failure to thrive, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent otitis media |
OMIM:613502 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Prostatitis, Decreased response to growth hormone stimulation test, Enteroviral dermatomyositis s... |
OMIM:307200 |
Perrault Syndrome 6 |
|
Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary amenorrhea, Premature ovarian... |
OMIM:617565 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Recurrent bacterial infections |
ORPHA:169079 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent fungal infections, Chronic oral candidiasis, Recurrent bacterial infections, Severe var... |
OMIM:606367 |
Specific Granule Deficiency 2 |
|
Failure to thrive, Recurrent bacterial infections, Sepsis, Recurrent pneumonia, Recurrent otitis ... |
OMIM:617475 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent otitis media, Recurrent tonsillitis, Pulmonary tuberculosis, Severe infection, Sepsis, ... |
ORPHA:183675 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections |
OMIM:245480 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, Recurrent sinusitis, Recurrent bronchitis, Recurrent pneumonia, R... |
OMIM:607594 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Failure to thrive, Recurrent upper and lower respiratory trac... |
ORPHA:911 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections |
OMIM:608106 |
Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections |
OMIM:615561 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent uppe... |
OMIM:608184 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent fungal infections, Recurrent bacterial infections, Recurrent sinusitis, Recurrent pneum... |
OMIM:243700 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections |
OMIM:193670 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:2457 |
Akt2-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Decreased serum leptin, Insulin-resistant diabetes mellitus, Insulin resistance, ... |
ORPHA:79085 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Retrograde ejaculation, Hyperinsulinemia, Insulin resistance |
ORPHA:230 |
Selective Igm Deficiency |
|
Onychomycosis, Recurrent infection of the gastrointestinal tract, Sepsis, Severe viral infection,... |
ORPHA:331235 |
Omenn Syndrome |
|
Failure to thrive, Recurrent fungal infections, Recurrent bacterial infections, Hypoplasia of the... |
OMIM:603554 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hyperinsulinemia, Recurrent pneumonia, Recurrent infections, Insulin resistance |
OMIM:613327 |
Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased response to growth hormon... |
ORPHA:3464 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, N... |
ORPHA:276152 |
Mirage Syndrome |
|
Adrenal insufficiency, Decreased body weight, Hypergonadotropic hypogonadism, Sepsis, Recurrent u... |
OMIM:617053 |
Rabson-Mendenhall Syndrome |
|
Postprandial hyperglycemia, Increased serum testosterone level, Precocious puberty, Insulin resis... |
ORPHA:769 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608612 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent infections, Helicobacter p... |
ORPHA:2688 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent bronchitis, Recurrent Haemophilus influenzae infections |
OMIM:300455 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyperinsuline... |
ORPHA:71212 |
Prolactinoma |
|
Impotence, Dyspareunia, Decreased fertility in males, Central adrenal insufficiency, Erectile dys... |
ORPHA:2965 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613496 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections |
OMIM:606843 |
Non-Functioning Pituitary Adenoma |
|
Impotence, Decreased fertility in males, Central adrenal insufficiency, Erectile dysfunction, Hyp... |
ORPHA:91349 |
Functioning Gonadotropic Adenoma |
|
Amenorrhea, Infertility, Adrenocorticotropic hormone deficiency, Impotence, Abnormal prolactin le... |
ORPHA:91348 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:610738 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections |
OMIM:616873 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Recurrent viral infections, Recurrent bacterial infections, Failure to thrive |
OMIM:618048 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent fungal infections, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Recurrent St... |
OMIM:147060 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
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Recurrent mycobacterial infections, Recurrent fungal infections, Sepsis, Recurrent bacterial infe... |
ORPHA:169090 |
Atypical Werner Syndrome |
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Failure to thrive, Type II diabetes mellitus, Hyperinsulinemia, Decreased body weight, Glycosuria... |
ORPHA:79474 |
Agammaglobulinemia 1, Autosomal Recessive |
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Failure to thrive, Recurrent bacterial infections, Recurrent sinusitis, Recurrent pneumonia, Recu... |
OMIM:601495 |
Purine Nucleoside Phosphorylase Deficiency |
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Failure to thrive, Recurrent bacterial infections, Recurrent opportunistic infections, Recurrent ... |
OMIM:613179 |
Immune Deficiency Disease |
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Recurrent viral infections, Recurrent bacterial infections |
OMIM:242850 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Recurrent bacterial infections |
OMIM:202700 |
46,Xy Sex Reversal 1 |
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Elevated circulating luteinizing hormone level, Primary amenorrhea, Abnormality of the menstrual ... |
OMIM:400044 |
Acquired Generalized Lipodystrophy |
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Insulin resistance, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
ORPHA:79086 |
Autosomal Dominant Severe Congenital Neutropenia |
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Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent ear ... |
ORPHA:486 |
Agammaglobulinemia 9, Autosomal Recessive |
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Failure to thrive, Recurrent bacterial infections |
OMIM:619693 |
Idiopathic Bronchiectasis |
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Recurrent lower respiratory tract infections, Cachexia, Recurrent Haemophilus influenzae infections |
ORPHA:60033 |
X-Linked Severe Congenital Neutropenia |
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Recurrent bacterial infections |
ORPHA:86788 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Failure to thrive, Recurrent upper and lower respiratory tract infections, Recurrent fungal infec... |
ORPHA:331206 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Type II diabetes mellitus, Hyperinsulinemia, Decreased serum leptin, Decreased fertility in femal... |
OMIM:269700 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Hyperinsulinemia, Decreased serum leptin, Decreased fertility in females, Insulin-resistant diabe... |
OMIM:608594 |
Immunodeficiency 10 |
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Recurrent bacterial infections, Recurrent infections |
OMIM:612783 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Failure to thrive, Chronic oral candidiasis, Sepsis, Recurrent bacterial infections, Enteroviral ... |
OMIM:308230 |
Complement Factor I Deficiency |
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Recurrent streptococcus pneumoniae infections, Recurrent urinary tract infections, Recurrent meni... |
OMIM:610984 |
Neutropenia, Severe Congenital, X-Linked |
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Recurrent bacterial infections |
OMIM:300299 |
Vici Syndrome |
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Failure to thrive, Recurrent fungal infections, Recurrent bacterial infections, Chronic mucocutan... |
OMIM:242840 |
Complement Component 5 Deficiency |
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Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:609536 |
Leprechaunism |
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Postprandial hyperglycemia, Failure to thrive, Hyperinsulinemia, Decreased body weight, Insulin r... |
ORPHA:508 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia, Impaired glucose tolerance |
OMIM:248370 |
Lipodystrophy, Familial Partial, Type 2 |
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Type II diabetes mellitus, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:151660 |
Primary Ciliary Dyskinesia |
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Recurrent mycobacterial infections, Female infertility, Male infertility, Recurrent otitis media,... |
ORPHA:244 |
Immunodeficiency 21 |
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Recurrent viral infections, Recurrent mycobacterium avium complex infections, Recurrent fungal in... |
OMIM:614172 |
Immunodeficiency 36 |
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Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent lower res... |
OMIM:616005 |
Leukocyte Adhesion Deficiency, Type I |
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Recurrent bacterial infections, Recurrent staphylococcal infections, Chronic mucocutaneous candid... |
OMIM:116920 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Thyroiditis, Glucose intolerance, Type II diabetes mellitus, Female infertility, Hyperinsulinemia... |
ORPHA:99413 |
Turner Syndrome |
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Thyroiditis, Glucose intolerance, Type II diabetes mellitus, Female infertility, Hyperinsulinemia... |
ORPHA:881 |
Mosaic Monosomy X |
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Thyroiditis, Glucose intolerance, Type II diabetes mellitus, Female infertility, Hyperinsulinemia... |
ORPHA:99228 |
Monosomy X |
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Thyroiditis, Glucose intolerance, Type II diabetes mellitus, Female infertility, Hyperinsulinemia... |
ORPHA:99226 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... |
OMIM:233710 |
Immunodeficiency 23 |
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Failure to thrive, Severe varicella zoster infection, Recurrent staphylococcal infections, Chroni... |
OMIM:615816 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Failure to thrive, Recurrent bacterial infections, Irregular menstruation, Menorrhagia, Hypothyro... |
ORPHA:79259 |
Congenital Disorder Of Glycosylation, Type Iif |
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Recurrent bacterial infections |
OMIM:603585 |
Leukocyte Adhesion Deficiency |
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Recurrent fungal infections, Hyperinsulinemic hypoglycemia, Chronic oral candidiasis, Recurrent t... |
ORPHA:2968 |
Tsh-Secreting Pituitary Adenoma |
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Impotence, Decreased fertility in males, Central adrenal insufficiency, Increased circulating pro... |
ORPHA:91347 |
Leukocyte Adhesion Deficiency, Type Iii |
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Recurrent bacterial infections, Sepsis |
OMIM:612840 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... |
OMIM:233690 |
Infantile Systemic Hyalinosis |
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Recurrent bacterial infections, Aplasia/Hypoplasia of the thymus, Failure to thrive, Abnormality ... |
ORPHA:2176 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Abnormal response to ... |
ORPHA:90794 |
Pgm3-Cdg |
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Failure to thrive, Recurrent fungal infections, Sepsis, Recurrent bacterial infections, Recurrent... |
ORPHA:443811 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Failure to thrive, Recurrent fungal infections, Aplasia of the thymus, Recurrent bacterial infect... |
OMIM:102700 |
Immunodeficiency 67 |
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Recurrent streptococcal infections, Recurrent staphylococcal infections |
OMIM:607676 |
Steinert Myotonic Dystrophy |
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Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, Decreased serum t... |
ORPHA:273 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Congenital hypoparathyroidism, Recurrent bacterial infections, Decreased response to growth hormo... |
OMIM:241410 |
Kenny-Caffey Syndrome, Type 1 |
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Congenital hypoparathyroidism, Recurrent bacterial infections |
OMIM:244460 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Failure to thrive, Hypoplasia of the thymus, Recurrent urinary tract infections, Sepsis, Recurren... |
OMIM:612541 |
Postinfectious Vasculitis |
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Recurrent candida infections, Recurrent mycobacterial infections, Recurrent streptococcus pneumon... |
ORPHA:48435 |
Hypocomplementemic Urticarial Vasculitis |
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Recurrent bacterial infections, Meningitis |
ORPHA:36412 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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Recurrent fungal infections, Chronic oral candidiasis, Recurrent bacterial infections, Recurrent ... |
ORPHA:221139 |
Shwachman-Diamond Syndrome |
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Failure to thrive, Decreased response to growth hormone stimulation test, Sepsis, Recurrent bacte... |
ORPHA:811 |
Sickle Cell Anemia |
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Recurrent bacterial infections, Priapism |
OMIM:603903 |
Hermansky-Pudlak Syndrome 2 |
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Chronic oral candidiasis, Recurrent bacterial infections, Recurrent pneumonia, Recurrent otitis m... |
OMIM:608233 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Recurrent Klebsiella infections, Recurrent Burkholderia cepa... |
OMIM:306400 |
Glycogen Storage Disease Ib |
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Hypoglycemia, Recurrent bacterial infections, Delayed puberty |
OMIM:232220 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum |
OMIM:300291 |
Chédiak-Higashi Syndrome |
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Recurrent bacterial skin infections, Recurrent bacterial infections, Recurrent streptococcal infe... |
ORPHA:167 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Failure to thrive, Recurrent bacterial infections |
OMIM:615895 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections |
OMIM:248500 |
Immunodeficiency 47 |
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Failure to thrive, Recurrent bacterial infections, Recurrent infections |
OMIM:300972 |
Immunodeficiency 87 And Autoimmunity |
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Recurrent fungal infections, Small for gestational age, Sepsis, Recurrent bacterial infections, S... |
OMIM:619573 |
Whim Syndrome |
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Sepsis, Recurrent bacterial infections, Recurrent upper respiratory tract infections, Meningitis,... |
ORPHA:51636 |
Alström Syndrome |
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Hyperinsulinemia, Decreased fertility in males, Hypergonadotropic hypogonadism, Puberty and gonad... |
ORPHA:64 |
Chediak-Higashi Syndrome |
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Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Recurrent infections |
OMIM:214500 |
Liver Disease, Severe Congenital |
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Failure to thrive, Hyperinsulinemic hypoglycemia, Sepsis, Recurrent urinary tract infections, Rec... |
OMIM:619991 |
Lysinuric Protein Intolerance |
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Failure to thrive, Recurrent bacterial infections, Decreased response to growth hormone stimulati... |
ORPHA:470 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Failure to thrive, Recurrent bacterial infections, Recurrent infections, Recurrent respiratory in... |
ORPHA:2273 |
Pmm2-Cdg |
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Failure to thrive, Hyperinsulinemia, Elevated circulating growth hormone concentration, Hypogonad... |
ORPHA:79318 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent Staphylococcus aureus infections |
ORPHA:642 |