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Gene: Pcsk1 MGI:97511

Gene Summary

Name:

proprotein convertase subtilisin/kexin type 1

Synonyms:

SPC3, prohormone convertase 1/3, Phpp-1, PC3, Nec1, PC1, Nec-1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
persistence of hyaloid vascular system	Pcsk1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	3.72×10^-08
abnormal freezing behavior	Pcsk1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	5.39×10^-05
abnormal vitreous body morphology	Pcsk1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	2.85×10^-07
decreased locomotor activity	Pcsk1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	7.50×10^-18
abnormal retina blood vessel morphology	Pcsk1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	2.62×10^-05
abnormal retina vasculature morphology	Pcsk1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	2.86×10^-05
preweaning lethality, incomplete penetrance	Pcsk1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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MicroCT E18.5

Embryo reconstruction

2 Images

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Human diseases caused by Pcsk1 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 Pcsk1 (2 diseases)
Human diseases predicted to be associated with Pcsk1 (1720 diseases)

The table below shows human diseases associated to Pcsk1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Obesity Due To Prohormone Convertase I Deficiency		Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem...	ORPHA:71528
Proprotein Convertase 1/3 Deficiency		Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h...	OMIM:600955

The table below shows human diseases predicted to be associated to Pcsk1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight, Maturity-onset diabetes of the young	OMIM:613375
Type 2 Diabetes Mellitus	Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus	OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 4	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:610508
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 6	Maturity-onset diabetes of the young	OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2	Maturity-onset diabetes of the young	OMIM:125851
Type 1 Diabetes Mellitus 2	Type I diabetes mellitus	OMIM:125852
Type 1 Diabetes Mellitus 20	Type I diabetes mellitus	OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9	Maturity-onset diabetes of the young	OMIM:612225
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Hypoinsu...	OMIM:240900
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ...	ORPHA:293964
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Truncal obesity	ORPHA:140941
Leptin Deficiency Or Dysfunction	Hypogonadism, Decreased testicular size, Obesity, Polyphagia, Primary amenorrhea, Micropenis, Dec...	OMIM:614962
Obesity Due To Melanocortin 4 Receptor Deficiency	Obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity...	ORPHA:71529
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus	OMIM:600089
Trehalase Deficiency	Abdominal pain, Diarrhea	OMIM:612119
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet...	OMIM:256450
Immunodeficiency 48	Pneumonia, Failure to thrive, Eczematoid dermatitis, Panhypogammaglobulinemia, Abnormal B cell co...	OMIM:269840
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Decreased response to growth hormone stimulation test, Obesity, Hyperinsulinem...	ORPHA:71526
Lactose Intolerance, Adult Type	Lactose intolerance, Abdominal pain, Diarrhea, Flatulence	OMIM:223100
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Obesity, Polyphagia, Hyperinsulinemia	ORPHA:329249
Prader-Willi syndrome (Type 1)	Feeding difficulties in infancy, Truncal obesity	DECIPHER:14
Prader-Willi Syndrome (Type 2)	Feeding difficulties in infancy, Truncal obesity	DECIPHER:53
Obesity	Obesity, Increased waist to hip ratio	OMIM:601665
Severe Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Decreased cir...	OMIM:300400
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ...	OMIM:615285
Body Mass Index Quantitative Trait Locus 20	Tall stature, Obesity, Polyphagia, Hyperinsulinemia	OMIM:618406
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Failure to thrive, Eczematoid dermatitis, Decreased c...	OMIM:607271
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk...	ORPHA:411593
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc...	ORPHA:171706
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (T...	OMIM:614662
Coronary Artery Disease, Autosomal Dominant, 1	Obesity, Diabetes mellitus	OMIM:608320
Obesity And Hypopigmentation	Overgrowth, Obesity, Polyphagia, Hyperinsulinemia	OMIM:620195
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus	OMIM:612227
Bardet-Biedl Syndrome 22	Hypogonadism, Polyphagia, Obesity, Large for gestational age	OMIM:617119
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Failure to thrive, Hyperglycemia, Transient neonatal diabet...	ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi...	OMIM:609968
Immunodeficiency 15B	Reduced natural killer cell count, Failure to thrive, Chronic diarrhea, Agammaglobulinemia, Monoc...	OMIM:615592
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Homozygous 11P15-P14 Deletion Syndrome	Diarrhea, Vomiting, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Feeding difficulties in in...	OMIM:606528
Immunodeficiency 19	Abnormal B cell morphology, Abnormal natural killer cell morphology, Failure to thrive, Recurrent...	OMIM:615617
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Granuloma, Hemophagocytosi...	OMIM:619858
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi...	OMIM:620449
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Obesity, Abnormal eating behavior, Aggress...	OMIM:614963
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, Lymphadenopathy, B lymphocytope...	OMIM:619164
Bardet-Biedl Syndrome 11	Hypogonadism, Obesity	OMIM:615988
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h...	OMIM:600955
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Immunodeficiency 104	Pneumonia, Diarrhea, Gastroesophageal reflux, Eczematoid dermatitis, Failure to thrive secondary ...	OMIM:608971
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Atopic dermatitis, Increased circulating ferritin concentration,...	OMIM:620603
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Increased circulating IgE level, Lymphopenia, Hepatosplenomegaly, Decreased pr...	ORPHA:169154
Trehalase Deficiency	Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain	ORPHA:103909
Adenocarcinoma Of The Esophagus	Obesity, Gastroesophageal reflux, Nausea and vomiting, Feeding difficulties in infancy	ORPHA:99976
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c...	OMIM:619510
Immunodeficiency 46	Failure to thrive, Chronic diarrhea, Neutropenia, Chronic oral candidiasis, Anemia, Conjunctiviti...	OMIM:616740
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Inflammation of the large intestine, Failure to thrive, Eczemato...	ORPHA:98813
Congenital Sucrase-Isomaltase Deficiency	Gastroesophageal reflux, Vomiting, Diarrhea, Abdominal colic, Failure to thrive, Nausea, Constipa...	ORPHA:35122
Glucose/Galactose Malabsorption	Glycosuria, Failure to thrive, Hyperactive bowel sounds, Malabsorption, Abdominal distention, Abn...	OMIM:606824
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea...	OMIM:619281
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Hepatitis, Failure to thrive, Eczematoid dermatitis, Increased circulat...	OMIM:304790
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Increased circulating IgE level, Hepatosplenomegaly, Decreased CD4:CD8 ratio, Psoriasiform dermat...	OMIM:606367
Mody	Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Hype...	ORPHA:552
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Obesity Due To Sim1 Deficiency	Attention deficit hyperactivity disorder, Polyphagia, Obesity, Hyperinsulinemia	ORPHA:369873
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Vasculitis, Diarrhea, Failure to thrive in infancy, Leukocytosis, Panniculitis, Skin rash, Chroni...	OMIM:617099
Prader-Willi Syndrome Due To Imprinting Mutation	External genital hypoplasia, Polyphagia, Obesity, Hypogonadotropic hypogonadism	ORPHA:177910
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Pneumonia, Failure to thrive, Panhypogammag...	OMIM:602450
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia	OMIM:606762
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Insulinomatosis And Diabetes Mellitus	Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h...	OMIM:147630
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Syndromic X-Linked Intellectual Disability 7	Hypogonadism, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis	ORPHA:85274
Short Stature Due To Ghsr Deficiency	Vomiting, Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insuli...	ORPHA:314811
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Absence of pubertal developm...	OMIM:619755
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Obesity, Motor stereotypy	OMIM:613886
Diarrhea 13	Vomiting, Secretory diarrhea, Failure to thrive, Recurrent hypoglycemia	OMIM:620357
Histiocytosis, Familial Lipochrome	Histiocytosis, Increased alpha-globulin, Increased circulating antibody level	OMIM:235900
Pituitary Hormone Deficiency, Combined, 4	Hypoglycemia, Adrenal insufficiency, Pituitary dwarfism, Severe postnatal growth retardation, Hyp...	OMIM:262700
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,...	OMIM:617514
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Small for gestational age, Maturity-onset diabetes of the young, Hyperinsu...	ORPHA:324575
Congenital Glucokinase-Related Hyperinsulinism	Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell...	ORPHA:79299
Immunodeficiency 69	Diarrhea, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepa...	OMIM:618963
Immunodeficiency 60 And Autoimmunity	Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease...	OMIM:618394
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Failure to thrive, Conjunctivitis, Osteomyelitis, Malabsorption, ...	ORPHA:47
Secretory Component Deficiency	Intermittent diarrhea	OMIM:269650
Refractory Celiac Disease	Hypoalbuminemia, Normocytic anemia, Inflammatory abnormality of the skin, Hypomagnesemia, Microcy...	ORPHA:398063
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Dilated cardiomyopathy, Microcytic anemia, Failure to thrive in infancy, Hepatic...	OMIM:618805
Short Stature Due To Partial Ghr Deficiency	Hypoglycemia, Decreased serum insulin-like growth factor 1, Delayed puberty, Short stature, Growt...	ORPHA:314802
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Adiposis Dolorosa	Obesity, Constipation, Abdominal distention	OMIM:103200
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil...	OMIM:617638
Multiple Symmetric Lipomatosis	Insulin resistance	ORPHA:2398
Bardet-Biedl Syndrome 5	Hypogonadism, Obesity, Micropenis, External genital hypoplasia	OMIM:615983
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla...	ORPHA:276608
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Obesity, Type II diabetes mellitus	OMIM:615703
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Inflammatory abnormality of the skin, Diarrhea, Absence of lymph node germin...	ORPHA:277
Body Mass Index Quantitative Trait Locus 19	Increased serum leptin, Polyphagia, Obesity, Hyperinsulinemia	OMIM:617885
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity	ORPHA:356996
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemic seizures, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycem...	OMIM:620211
Immunodeficiency 27A	Hypoalbuminemia, Pneumonia, Diarrhea, Enlarged mesenteric lymph node, Anorexia, Hepatosplenomegal...	OMIM:209950
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Decreased circulating IgG level, Eczematoid dermatitis, Elevated haptoglobin lev...	OMIM:620632
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain	OMIM:191390
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Angioedema, Hereditary, 8	Abdominal pain, Diarrhea, Episodic vomiting	OMIM:619367
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Diarrhea 9	Diarrhea, Failure to thrive	OMIM:618168
Diarrhea 4, Malabsorptive, Congenital	Vomiting, Diarrhea, Failure to thrive	OMIM:610370
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Decreased circulating IgG level, Peritoneal effusion, Hypomagnesemia, Ascites, L...	ORPHA:90362
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul...	ORPHA:276580
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato...	ORPHA:79084
Bardet-Biedl Syndrome 10	Hypogonadism, Obesity	OMIM:615987
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Diarrhea, Increased circulating IgE level, Lymphopenia, Apl...	OMIM:102700
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Obesity, Cryptorchidism, Hernia of the abdominal wall, Aplasia/Hypoplasia of the testes, Hypoplas...	ORPHA:3055
Combined Immunodeficiency Due To Zap70 Deficiency	Pneumonia, Lymphadenitis, Failure to thrive, Chronic mucocutaneous candidiasis, Abnormal lymph no...	ORPHA:911
Immunodeficiency 9	Decreased circulating IgG level, Failure to thrive, Lymphopenia, Decreased circulating IgA level,...	OMIM:612782
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul...	ORPHA:276575
14Q11.2 Microduplication Syndrome	Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroidism, Aggressive behavior	ORPHA:261229
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino...	OMIM:618523
Temple Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Obesity, Type II diabe...	ORPHA:254516
Immunodeficiency 92	Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta...	OMIM:619652
Schaaf-Yang Syndrome	Failure to thrive in infancy, Hypogonadism, Obesity, Cryptorchidism, Polyphagia, Skin-picking, Mi...	OMIM:615547
Intellectual Developmental Disorder, Autosomal Dominant 72	Tall stature, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder, Mi...	OMIM:620439
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Vomiting, Elevated circulating thyroid-stimulating hormone concentration, Hypogl...	OMIM:617872
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Failure to thrive, Ecz...	OMIM:242700
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Mirage Syndrome	Gastroesophageal reflux, Hypoglycemia, Aspiration pneumonia, Lymphopenia, Leukopenia, Adrenal ins...	OMIM:617053
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Hematochezia, Dilated cardiomyopathy, Lymphadenitis, Failure to thrive, Cardiom...	OMIM:615895
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Intellectual Developmental Disorder, Autosomal Dominant 39	Polyphagia, Obesity, Aggressive behavior, Self-mutilation	OMIM:616521
Omenn Syndrome	Pneumonia, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatom...	ORPHA:39041
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T...	OMIM:615513
Graves Disease	Graves disease, Goiter, Increased circulating free T3, Polyphagia, Weight loss, Increased circula...	OMIM:275000
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Intestinal Dysmotility Syndrome	Diarrhea, Decreased intestinal transit time, Failure to thrive, Projectile vomiting, Weight loss,...	OMIM:620045
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Type I diabetes mellitus, Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Decre...	OMIM:613385
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypertrophic...	ORPHA:276556
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Isolated Growth Hormone Deficiency, Type Ia	Severe short stature, Hypoglycemia, Decreased serum insulin-like growth factor 1, Reduced circula...	OMIM:262400
Immunodeficiency 97 With Autoinflammation	Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple...	OMIM:619802
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Bloody diarrhea, Leukocytosis, Anemia, Elevated circulating C-reactive protein concentration, Ulc...	OMIM:619398
Pouchitis	Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A...	ORPHA:217067
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism	OMIM:307500
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity, Cryptorchidism	OMIM:309585
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ...	OMIM:300635
Central Retinal Vein Occlusion	Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti...	ORPHA:411527
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Absent natural killer cells, Failure to thrive, Panhypogammaglobulinemia, Recurrent ot...	OMIM:600802
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections, Panh...	OMIM:601457
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Hepatomegaly...	OMIM:308240
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Obesity, Intermittent diarrhea, Feeding difficulties	OMIM:620270
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Enteric Anendocrinosis	Vomiting, Type I diabetes mellitus, Diarrhea, Malabsorption	ORPHA:83620
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Recurrent pneumonia, Absent natural killer cells, Failure to thr...	ORPHA:35078
Persistent Polyclonal B-Cell Lymphocytosis	Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonus, Iris colob...	ORPHA:231736
Ataxia-Telangiectasia	Decreased circulating IgG level, Failure to thrive, Lymphopenia, Decreased circulating IgA level,...	OMIM:208900
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Sucrase-Isomaltase Deficiency, Congenital	Abdominal pain, Diarrhea, Malabsorption	OMIM:222900
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Abdominal distention, Abdo...	ORPHA:160148
Reticular Dysgenesis	Diarrhea, Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Malabsorption, Skin ra...	ORPHA:33355
Xq27.3Q28 Duplication Syndrome	Failure to thrive, Hypogonadism, Decreased testicular size, Cryptorchidism, Truncal obesity	ORPHA:261483
Glycogen Storage Disease Vi	Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Increased hepatic glycogen content, H...	OMIM:232700
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Decreased circulating IgA level, Psoriasiform dermatitis, Decrea...	OMIM:617765
Immunodeficiency 59 And Hypoglycemia	Arteritis, Acne inversa, Hypoglycemia, Herpes simplex encephalitis, Recurrent aphthous stomatitis...	OMIM:233600
Sim1-Related Prader-Willi-Like Syndrome	Premature adrenarche, Small scrotum, Absence of pubertal development, Type II diabetes mellitus, ...	ORPHA:398079
Hypothyroidism, Central, With Testicular Enlargement	Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t...	OMIM:300888
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Conjunctivitis, Increased circulating ferritin concentration, Splenomegaly, Ski...	OMIM:603552
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr...	ORPHA:98793
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr...	ORPHA:98754
Hyper-Igd Syndrome	Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Inc...	OMIM:260920
Immunodeficiency 17	Abnormal B cell morphology, Failure to thrive, Eczematoid dermatitis, Chronic decreased circulati...	OMIM:615607
Glycogen Storage Disease Ixb	Diarrhea, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatome...	OMIM:261750
Bardet-Biedl Syndrome 9	Irregular menstruation, Polydipsia, Obesity, Polyphagia, Truncal obesity	OMIM:615986
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr...	ORPHA:177904
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Failure to thrive, Recurrent infection of the gastrointestinal tract, Splenomega...	OMIM:613489
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, V...	OMIM:193235
Exudative Vitreoretinopathy 2, X-Linked	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su...	OMIM:305390
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Small scrotum, Bulimia, Decreased circulating T4 concentration, Central adr...	ORPHA:177901
Macular Dystrophy, Retinal, 3	Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Retinal neovascularizati...	OMIM:608850
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity, Reduced circulating prolactin concentration	OMIM:264120
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Polyphagia, Obesity, Inappropriate laughter, Hyperactivity	ORPHA:411515
Diarrhea 6	Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease	OMIM:614616
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,...	OMIM:613670
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Huntington Disease	Decreased body mass index, Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcoho...	ORPHA:399
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Failure to thrive, Recurrent otitis media, Agammaglobulinemia, Absent circulating B cel...	OMIM:613501
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul...	OMIM:619178
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Obesity, Adrenal insufficiency, Decreased ...	OMIM:609734
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Anemia, Feeding difficulties in infancy, Failure to thrive, Hypoglycemia	OMIM:610090
Combined Malonic And Methylmalonic Aciduria	Diarrhea, Vomiting, Failure to thrive	OMIM:614265
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Histiocytosis, Skin rash	ORPHA:157997
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty...	OMIM:619326
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Failu...	OMIM:614576
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct...	OMIM:266600
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Cortisone Reductase Deficiency 1	Precocious puberty, Infertility, Obesity, Oligomenorrhea	OMIM:604931
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Diarrhea,...	OMIM:607594
Neuroblastoma	Elevated circulating catecholamine level, Increased circulating ferritin concentration, Hypertens...	ORPHA:635
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive	OMIM:601410
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm...	OMIM:616433
Mahvash Disease	Palpitations, Type II diabetes mellitus, Recurrent pancreatitis, Abdominal pain, Pancreatic alpha...	OMIM:619290
Bardet-Biedl Syndrome 2	Hypogonadism, Obesity, Diabetes mellitus	OMIM:615981
Osteogenesis Imperfecta, Type Xxiii	Insulin resistance, Truncal obesity	OMIM:620639
Galactokinase Deficiency	Small for gestational age, Failure to thrive, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia,...	ORPHA:79237
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Increase...	ORPHA:507
Hypotonia-Cystinuria Syndrome	Failure to thrive, Decreased response to growth hormone stimulation test, Ragged-red muscle fiber...	OMIM:606407
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618108
Neonatal Hemochromatosis	Increased circulating iron concentration, Hypoglycemia, Increased circulating ferritin concentrat...	ORPHA:446
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Diarrhea, Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoi...	OMIM:618495
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, Absence of pubertal development, Type II diabetes mellitus, Cryptorchidism, Increa...	ORPHA:398069
Morm Syndrome	Micropenis, Aggressive behavior, Hyperactivity, Truncal obesity	ORPHA:75858
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody level, Hepatom...	OMIM:614470
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Recurrent pneumonia, Diarrhea, Recurrent ...	OMIM:240500
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Trichohepatoenteric Syndrome 2	Decreased circulating iron concentration, Diarrhea, Failure to thrive, Bloody diarrhea, Cirrhosis...	OMIM:614602
Exudative Vitreoretinopathy 1	Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre...	OMIM:133780
Hernández-Aguirre Negrete Syndrome	Obesity, Delayed puberty	ORPHA:2139
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Diarrhea, Vomiting, Failure to thrive, Cardiomyopathy, Hypoglycemia, Leukopenia, Hyperglycinemia,...	OMIM:251000
6Q16 Microdeletion Syndrome	Abnormal temper tantrums, Polyphagia, Obesity	ORPHA:171829
Immunoglobulin Kappa Light Chain Deficiency	Absent circulating immunoglobulin kappa chain, Diarrhea, Chronic diarrhea	OMIM:614102
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Aborted sudden cardiac death, Dilated cardiomyopathy, Vomiting, Hepatit...	OMIM:614921
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Type II diabete...	ORPHA:453533
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia...	OMIM:262190
Agammaglobulinemia, X-Linked	Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ...	OMIM:300755
Biemond Syndrome Type 2	Hypogonadism, Obesity, Hypogonadotropic hypogonadism, Delayed puberty, Hypospadias	ORPHA:141333
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Keloids, Decreased testicular size, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Cryptor...	ORPHA:3085
Bangstad Syndrome	Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl...	ORPHA:1227
Kleine-Levin Syndrome	Polydipsia, Abnormal eating behavior, Decreased libido, Sweet craving, Polyphagia, Repetitive com...	ORPHA:33543
Immunodeficiency 47	Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I...	OMIM:300972
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Absence of pubertal development, Obesity, Decreased testicular size, Cryptorchidism, Hypogonadotr...	OMIM:610628
Propionic Acidemia	Vomiting, Failure to thrive, Cardiomyopathy, Hypoglycemia, Eczematoid dermatitis, Pancytopenia, H...	OMIM:606054
5-Oxoprolinase Deficiency	Abdominal pain, Vomiting, Diarrhea, Enterocolitis	OMIM:260005
Familial Exudative Vitreoretinopathy	Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional retinal detac...	ORPHA:891
Rabies	Diarrhea, Nausea and vomiting, Anorexia	ORPHA:770
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Secondary Intestinal Lymphangiectasia	Hypoalbuminemia, Intestinal bleeding, Vomiting, Right ventricular failure, Abdominal colic, Decre...	ORPHA:90363
Mehmo Syndrome	External genital hypoplasia, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis, Diabetes m...	ORPHA:85282
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Diarrhea, Hepatosplenomegaly, Pancytopenia, Pulmonary hem...	ORPHA:79124
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Pick Disease Of Brain	Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition	OMIM:172700
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Hepatitis, Failure to ...	ORPHA:169160
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Secretory diarrhea, Abdominal distention	OMIM:616868
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity	ORPHA:217377
Lipe-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Proximal muscle weakness in lower limbs, Proximal muscle weakness in...	ORPHA:435660
Macrophage Activation Syndrome	Hypoalbuminemia, Abnormal circulating interleukin concentration, Increased circulating interleuki...	ORPHA:158061
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Hypoglycemia, Congestive heart failure, Decreased plasma free carnitine, Hepat...	OMIM:619048
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Secretory diarrh...	OMIM:616050
Blue Diaper Syndrome	Increased body weight, Diarrhea, Increased proinsulin:insulin ratio, Recurrent hypoglycemia	ORPHA:94086
Shigellosis	Microangiopathic hemolytic anemia, Cholestasis, Abscess, Anorexia, Abdominal pain, Abnormal blood...	ORPHA:810
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter...	OMIM:274300
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Generalized muscular appearance from birth, Umbilical hernia, Tall stature,...	OMIM:608594
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Failure to thrive, Rectal abscess, Panhypogammaglobulinemia, Recurrent otiti...	OMIM:601495
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive, Hypoglycemia	ORPHA:67046
Mitochondrial Dna Depletion Syndrome 11	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Arrhythmia, Nausea, C...	OMIM:615084
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cardiomyopathy	OMIM:609016
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Bile Acid Malabsorption, Primary, 1	Steatorrhea, Chronic diarrhea, Fat malabsorption, Failure to thrive	OMIM:613291
Bardet-Biedl Syndrome 4	Hypogonadism, Obesity, Cryptorchidism, External genital hypoplasia	OMIM:615982
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Polyphagia, Failure to thrive, Decreased body weight	OMIM:620085
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Restrictive cardiomyopathy, Diarrhea, Increased circulating fe...	OMIM:619313
Papular Xanthoma	Histiocytosis	ORPHA:158008
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega...	OMIM:607616
Late-Onset Isolated Acth Deficiency	Diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hypoparathyroidism, Abdominal pain, Pituita...	ORPHA:199299
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia	ORPHA:35878
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Hypertrophic cardiomyopathy, Adrenal insufficiency, Hyperglycinemia, Hepatic steato...	OMIM:619386
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, ...	ORPHA:369
Proteasome-Associated Autoinflammatory Syndrome 5	Failure to thrive in infancy, Skin rash, Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:619175
Solitary Fibrous Tumor	Hypoglycemia, Pelvic mass, Recurrent hypoglycemia, Hypophosphatemic rickets, Neoplasm of the live...	ORPHA:2126
Immunodeficiency 10	Decreased circulating IgG level, Recurrent pneumonia, Hypoglycemia, Recurrent otitis media, Decre...	OMIM:612783
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Polycystic ovaries, Loss of glu...	ORPHA:435651
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Diarrhea, Protracted diarrhea, Pancytopenia, Decreased proportion of CD4-...	ORPHA:572
Immunodeficiency 56	Recurrent pneumonia, Hepatic failure, Failure to thrive, Panhypogammaglobulinemia, Recurrent otit...	OMIM:615207
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Fail...	OMIM:615767
Immunodeficiency 102	Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut...	OMIM:301082
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT...	OMIM:615954
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Malabsorption, Nausea, Abdominal distention, Dyspepsia, Abdominal pain, Chronic diarrhea	ORPHA:103907
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Abnormal circulating h...	ORPHA:280356
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Small scrotum, Hypogonadism, Decreased testicular size, Obesity, Abnormality of the thyroid gland...	ORPHA:2234
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:300853
Luscan-Lumish Syndrome	Irregular menstruation, Obesity, Polycystic ovaries, Overgrowth, Polyphagia, Aggressive behavior	OMIM:616831
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis	ORPHA:158025
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Anorexia, Hepatomegaly, Mala...	OMIM:557000
Hypotonia-Cystinuria Syndrome	Polyphagia, Failure to thrive	ORPHA:163690
X-Linked Acrogigantism	Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop...	ORPHA:300373
Type 1 Diabetes Mellitus	Polyphagia, Polydipsia, Diabetes mellitus	OMIM:222100
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Generalized muscular appearance from birth, Umbilical hernia, Tall stature,...	OMIM:269700
Joubert Syndrome 10	Polyphagia, Obesity, Frequent temper tantrums, Decreased body weight	OMIM:300804
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Cardiomyopathy, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Feeding diff...	OMIM:619046
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance	OMIM:610947
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Vomiting, Erysipelas, Hepatic amyloidosis, Cervical lymphadenopathy,...	OMIM:142680
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Diabetes mellitus, Abdominal obesity	OMIM:615980
Complement Component 4B Deficiency	Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Chron...	OMIM:614379
Cutaneous Photosensitivity And Colitis, Lethal	Colitis, Diarrhea	OMIM:219095
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Feeding difficulties...	ORPHA:3260
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po...	OMIM:312863
Solitary Rectal Ulcer Syndrome	Hematochezia, Tenesmus, Chronic constipation, Decreased body weight, Episodic abdominal pain, Abd...	ORPHA:209964
Propionic Acidemia	Hypoglycemia, Cardiomyopathy, Hyperammonemia, Arrhythmia, Constipation, Hepatomegaly	ORPHA:35
Chromosome Xq26.3 Duplication Syndrome	Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Tall stature, ...	OMIM:300942
Enterokinase Deficiency	Diarrhea, Failure to thrive	OMIM:226200
Hirschsprung Disease	Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Nau...	ORPHA:388
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ...	OMIM:613011
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia	OMIM:608898
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Bone marrow hypocellularity, Type I diabetes mellitus, Hemophago...	OMIM:301078
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Anorexia, Nausea and vomiting, Abdominal pain, Cirrhos...	ORPHA:65682
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Hypogonadism, Obesity, Decreased fertility, Abnormal testis morphology	ORPHA:2233
Aa Amyloidosis	Hypotension, Vomiting, Malnutrition, Cholestasis, Adrenal insufficiency, Malabsorption, Nausea, H...	ORPHA:85445
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Diarrhea, Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells...	ORPHA:276
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Splenomegaly, Skin rash, Lymphadenopathy, Erythema n...	OMIM:611762
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia, Short stature, Diabetes mellitus	OMIM:616033
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Failure to thrive, Acute hepatic failure, He...	OMIM:619644
Pyruvate Dehydrogenase E3 Deficiency	Elevated circulating branched chain amino acid concentration, Hepatic failure, Decreased circulat...	ORPHA:2394
Simpson-Golabi-Behmel Syndrome, Type 2	Obesity, Inguinal hernia	OMIM:300209
Bardet-Biedl Syndrome 16	Hypogonadism, Obesity, External genital hypoplasia	OMIM:615993
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Vomiting, Failure to thrive, Hilar lymph node enlargement, Cholestasis, ...	OMIM:620233
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hepatic failur...	ORPHA:158057
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Decreased proportion of CD8-positive T ce...	OMIM:617241
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Small for gestational age, Failure to thrive	OMIM:613217
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Diarrhea, Increased circulating IgE level, Lymphopenia, Decr...	OMIM:301000
Wolfram-Like Syndrome	Male hypogonadism, Glucose intolerance, Central diabetes insipidus, Hypothyroidism, Delayed puber...	ORPHA:411590
Diarrhea 7, Protein-Losing Enteropathy Type	Vomiting, Diarrhea, Abdominal colic, Failure to thrive	OMIM:615863
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Vomiting, Hypoglycemia, Hyperammonemia, Pancreatitis, Abdominal pain	OMIM:620137
Brunner Syndrome	Diarrhea	OMIM:300615
Mehmo Syndrome	Male hypogonadism, Decreased response to growth hormone stimulation test, Obesity, Aggressive beh...	OMIM:300148
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia...	OMIM:616329
Prader-Willi Syndrome	Small scrotum, Decreased muscle mass, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism...	OMIM:176270
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea	OMIM:184700
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypoglycemic seizures, Decreased thyroid-...	OMIM:262600
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Cryptorchidism, Polyphagia, Motor stereotypy, Hyperactivity, Hypoplasia ...	ORPHA:228402
Prader-Willi Syndrome	Premature adrenarche, Small scrotum, Central adrenal insufficiency, Cryptorchidism, Polyphagia, H...	ORPHA:739
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ...	OMIM:618986
Erythroderma Desquamativum	Diarrhea, Failure to thrive	ORPHA:314
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Glycogen Storage Disease Ixa1	Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly	OMIM:306000
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Autoimmune ...	ORPHA:436159
3-Methylglutaconic Aciduria Type 4	Failure to thrive, Hypoglycemia, Cardiomyopathy, Decreased liver function, Thrombocytopenia	ORPHA:67048
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Limb muscle weakness, Calf muscle hypertrophy, Testicular atrophy, Dysphagia	OMIM:313200
Perlman Syndrome	High, narrow palate, Abnormal pancreas morphology, Hyperinsulinemia, Cryptorchidism, Hepatomegaly	ORPHA:2849
Chromosome Xq27.3-Q28 Duplication Syndrome	Hypogonadism, Decreased serum testosterone concentration, Decreased testicular size, Cryptorchidi...	OMIM:300869
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Congenital hypothyroidism, Obesity	ORPHA:88643
Eosinophilic Gastroenteritis	Hypoalbuminemia, Hematochezia, Allergic rhinitis, Atopic dermatitis, Diarrhea, Vomiting, Ascites,...	ORPHA:2070
Narcolepsy 7	Obesity, Type II diabetes mellitus	OMIM:614250
Cernunnos-Xlf Deficiency	Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin...	ORPHA:169079
Donohue Syndrome	Precocious puberty, Hepatic fibrosis, Postprandial hyperglycemia, Cholestasis, Postnatal growth r...	OMIM:246200
Isolated Agammaglobulinemia	Pneumonia, Diarrhea, Failure to thrive, Abnormal lymphocyte morphology, Malabsorption, Otitis med...	ORPHA:229717
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Inter...	ORPHA:330001
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Mantle Cell Lymphoma	Anorexia, Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:52416
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hyperammonemia, Hypoglycemia	ORPHA:664
11P15.4 Microduplication Syndrome	Aggressive behavior, Obesity	ORPHA:300305
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Insulin-resistant diabetes mellitus	OMIM:613877
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoparathyroidism,...	ORPHA:699
Combined Oxidative Phosphorylation Deficiency 40	Hypoglycemia, Decreased liver function, Hypertrophic cardiomyopathy, Neonatal death, Elevated cir...	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Cardiomyopathy, Hypoglycemia, Decreased liver function, Neonatal death, Elevated circulating crea...	OMIM:618839
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Diarrhea, Adrenal calcification, Acute hepatic failure, Increased LDL ...	OMIM:278000
Aicardi-Goutieres Syndrome 6	Splenomegaly, Chilblains, Increased circulating Interferon-alpha concentration, Thrombocytopenia,...	OMIM:615010
Alg1-Cdg	Hypoalbuminemia, Chronic diarrhea, Decreased liver function, Cardiomyopathy	ORPHA:79327
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Abdominal pain, Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia	OMIM:118830
Bardet-Biedl Syndrome 8	Hypogonadism, Obesity, Hypospadias	OMIM:615985
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased...	OMIM:612692
Glycogen Storage Disease Iii	Hepatic fibrosis, Cardiomyopathy, Hypoglycemia, Hyperlipidemia, Elevated circulating creatine kin...	OMIM:232400
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Failure to thrive, Cardiomyopathy, Hepatic stea...	ORPHA:26792
Frontotemporal Dementia	Polyphagia, Inappropriate laughter, Disinhibition	OMIM:600274
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Diarrhea, Cholestasis, Hepatic steatosis, Increased body weight, Cirrhosis, Hepatomegaly, Portal ...	ORPHA:264580
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co...	OMIM:620282
Bardet-Biedl Syndrome 7	Hypogonadism, Obesity	OMIM:615984
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lymphocytopenia, Pneum...	OMIM:618806
Dihydrolipoamide Dehydrogenase Deficiency	Hypoglycemia, Decreased liver function, Hypertrophic cardiomyopathy, Hepatomegaly, Increased seru...	OMIM:246900
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Diarrhea, Failure to thrive, Cardiomyopathy, Conge...	OMIM:212140
Short Stature, Dauber-Argente Type	Short stature, Postnatal growth retardation, Fasting hyperinsulinemia	OMIM:619489
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea	OMIM:223000
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Hemochromatosis, Neonatal	Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Hypoglycemia, Hepato...	OMIM:231100
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Pancreatic islet-cell hyperplasia, Increa...	ORPHA:263455
Perrault Syndrome 4	Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ...	OMIM:615300
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Decreased circulatin...	ORPHA:397596
Hypothyroidism, Congenital, Nongoitrous, 6	Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Omphalocele, Increased b...	OMIM:614450
Pyridoxal Phosphate-Responsive Seizures	Failure to thrive, Hypoglycemia, Abnormal circulating arginine concentration, Abnormal circulatin...	ORPHA:79096
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Childhood-onset truncal obesity, Truncal obesity	OMIM:610156
Kennedy Disease	Skeletal muscle atrophy, Type II diabetes mellitus, Decreased fertility, Testicular atrophy, Erec...	ORPHA:481
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Diarrhea, Vomiting, Hypoglycemia, Decreased liver function, Hyperammonemia, Hepatic steatosis, El...	ORPHA:42
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Weight l...	ORPHA:100024
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large intestine, Microcytic a...	ORPHA:906
Cog7-Cdg	Diarrhea, Failure to thrive, Hepatosplenomegaly, Elevated circulating creatine kinase concentrati...	ORPHA:79333
Beta-Ketothiolase Deficiency	Hypotension, Diarrhea, Vomiting, Hypoglycemia, Anorexia, Hyperglycemia, Leukocytosis, Hyperammone...	ORPHA:134
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Failure to thrive, Cutaneous abscess, Ecz...	OMIM:618131
Combined Malonic And Methylmalonic Acidemia	Vomiting, Failure to thrive, Hypoglycemia, Nasogastric tube feeding, Dicarboxylic acidemia, Inter...	ORPHA:289504
Diarrhea 11, Malabsorptive, Congenital	Diarrhea	OMIM:618662
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Cardiomyopathy, Increased circulating...	OMIM:613313
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Lymphopenia...	OMIM:616100
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Jaundice, Increased circulating interf...	ORPHA:540
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis	OMIM:618858
Intellectual Developmental Disorder, X-Linked 91	Obesity	OMIM:300577
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,...	OMIM:615160
Necrotizing Enterocolitis	Hypotension, Diarrhea, Abdominal distention, Vomiting, Hypoactive bowel sounds, Ascites, Shock, H...	ORPHA:391673
Immunodeficiency 32B	Hypoalbuminemia, Pneumonia, Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG...	OMIM:226990
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Leukocytosis, Rectal abscess, El...	OMIM:116920
Aggressive Systemic Mastocytosis	Diarrhea, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Weight loss, Neutropenia, Anorexia, Le...	ORPHA:98850
Trimethylaminuria	Recurrent pneumonia, Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension	OMIM:602079
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic failure, V...	OMIM:251880
Mpi-Cdg	Hepatic fibrosis, Protein-losing enteropathy, Gastrointestinal hemorrhage, Portal hypertension, H...	ORPHA:79319
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the spleen, Abnormali...	ORPHA:543
Cebalid Syndrome	Polyphagia, Congenital diaphragmatic hernia	OMIM:618774
Mitochondrial Complex I Deficiency, Nuclear Type 33	Bronchiectasis, Hypoglycemia, Aspiration pneumonia, Hyperammonemia, Neutropenia, Dysphagia, Small...	OMIM:618253
Wagro Syndrome	Hypoplastic female external genitalia, Decreased testicular size, Obesity, Polyphagia, Aggressive...	OMIM:612469
Coproporphyria, Hereditary	Diarrhea, Vomiting, Splenomegaly, Abdominal pain, Constipation, Hepatomegaly, Jaundice, Tachycard...	OMIM:121300
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N...	OMIM:619220
Acute Adrenal Insufficiency	Diarrhea, Nausea and vomiting, Weight loss, Anorexia, Abdominal pain, Hyperkalemia, Androgen insu...	ORPHA:95409
Narcolepsy Type 1	Precocious puberty, Male sexual dysfunction, Female sexual dysfunction, Obesity, Restless legs, A...	ORPHA:2073
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Ascites, Pancytopenia, Hepatosplenomegaly...	OMIM:615122
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal...	OMIM:150550
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Diarr...	ORPHA:71212
Temple Syndrome	Precocious puberty, Maturity-onset diabetes of the young, Decreased testicular size, Obesity, Cry...	OMIM:616222
Acquired Partial Lipodystrophy	Insulin resistance	ORPHA:79087
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Weight loss	ORPHA:30925
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Omenn Syndrome	Pneumonia, Diarrhea, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Ane...	OMIM:603554
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Cardiomyopathy, Anorexia, Nausea and vomiting, Splenomegaly, Hyperammonemia, H...	ORPHA:79312
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha...	ORPHA:444463
Abetalipoproteinemia	Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Cirrhosis, Hepatomegaly, Hypotriglyceridem...	ORPHA:14
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Immunodeficiency 25	Recurrent pneumonia, Protracted diarrhea, Increased circulating IgE level, Complete or near-compl...	OMIM:610163
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hypotension, Recurrent pneumonia, Adrenocorticotropin deficient adrenal insufficiency, Failure to...	ORPHA:293978
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98855
Malonyl-Coa Decarboxylase Deficiency	Vomiting, Diarrhea, Hypoglycemia, Chronic constipation, Constipation, Abdominal pain	OMIM:248360
Dopamine Beta-Hydroxylase Deficiency	Orthostatic syncope, Insulin resistance, Diarrhea, Vomiting, Hypoglycemia, Abnormal EKG, Elevated...	ORPHA:230
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Hepatic fibrosis, Dilated cardiomyopathy, Aplastic anemia, Failure t...	OMIM:613989
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age	OMIM:606176
Galactosemia Iii	Vomiting, Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia	OMIM:230350
Ataxia-Oculomotor Apraxia Type 4	Progressive distal muscular atrophy, Obesity, Muscular dystrophy, Distal lower limb muscle weakness	ORPHA:459033
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Vomiting, Failure to thrive, Hepatic steatosis, Splenomegaly, Hypertriglyceride...	OMIM:614480
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Diarrhea, Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Ane...	ORPHA:54251
Gcgr-Related Hyperglucagonemia	Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Abdominal pain, Neoplasm of the p...	ORPHA:438274
Middle Ear Neuroendocrine Tumor	Chronic diarrhea, Chronic noninfectious lymphadenopathy, Carcinoid tumor, Neuroendocrine neoplasm	ORPHA:100084
Hemochromatosis, Type 2A	Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu...	OMIM:602390
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Decreased circula...	OMIM:618838
Addison Disease	Diarrhea, Adrenal calcification, Nausea and vomiting, Weight loss, Anorexia, Hypoparathyroidism, ...	ORPHA:85138
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Failure to thrive, Chronic diarrhea, Conjugated hy...	OMIM:619484
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus	ORPHA:90301
Hydrocephalus-Obesity-Hypogonadism Syndrome	Obesity, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism	ORPHA:2183
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ...	OMIM:165550
Neuroendocrine Tumor Of Stomach	Increased serum serotonin, Protracted diarrhea, Nausea and vomiting, Weight loss, Anorexia, Hepat...	ORPHA:100075
Schnitzler Syndrome	Vasculitis, Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anem...	ORPHA:37748
Pseudohypoparathyroidism, Type Ib	Obesity, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism	OMIM:603233
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Vomiting, Failure to thrive, Hypoglycemia, Elevated circulating propionyl...	OMIM:251110
Zollinger-Ellison Syndrome	Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina...	ORPHA:913
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Increased circulating antibody leve...	ORPHA:99826
Acquired Hypertrichosis Lanuginosa	Chronic diarrhea, Weight loss, Lymphadenopathy, Poor appetite	ORPHA:2221
Chromosome 19P13.13 Deletion Syndrome	Diarrhea, Vomiting, Overgrowth, Constipation, Abdominal pain, Feeding difficulties	OMIM:613638
Griscelli Syndrome, Type 2	Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular...	OMIM:619566
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Splenomegaly, Inc...	OMIM:619868
Myopathy, Centronuclear, 1	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl...	OMIM:160150
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Hypogonadism, Obesity, Cryptorchidism, External genital hypoplasia	ORPHA:363741
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Cholestasis, El...	OMIM:608104
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of the prostate, Obesity, Cryptorchidism, Delayed puberty, Micropenis	OMIM:301900
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Constipation	OMIM:615548
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Diarrhea, Vomiting, Malnutrition, Abnormality of the sp...	ORPHA:79456
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Eales Disease	Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb...	ORPHA:40923
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hypogonadism, Decreased testicular size, Distal lower limb amyotrophy, Cryptorchidism, Aggressive...	OMIM:300354
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Hypoglycemia, Ascites, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomega...	OMIM:614702
Alpha-Heavy Chain Disease	Ascites, Malabsorption, Hypocalcemia, Splenomegaly, Dysgammaglobulinemia, Hepatomegaly, Lymphaden...	ORPHA:100025
Myopathy, X-Linked, With Postural Muscle Atrophy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hamstri...	OMIM:300696
Boutonneuse Fever	Vasculitis, Diarrhea, Cervical lymphadenopathy, Leukopenia, Skin rash, Maculopapular exanthema, N...	ORPHA:83313
48,Xxyy Syndrome	Abnormal dental enamel morphology, Tall stature, Obesity, Azoospermia, Type II diabetes mellitus,...	ORPHA:10
Wolman Disease	Vomiting, Failure to thrive, Adrenal calcification, Acute hepatic failure, Splenomegaly, Abdomina...	OMIM:620151
Intellectual Developmental Disorder, Autosomal Dominant 51	Failure to thrive, Recurrent otitis media, Chronic constipation, Chronic diarrhea, Feeding diffic...	OMIM:617788
Glycoprotein Storage Disease	Gout, Splenomegaly	OMIM:232900
Cholesteryl Ester Storage Disease	Hepatic failure, Diarrhea, Adrenal calcification, Nausea and vomiting, Splenomegaly, Cirrhosis, H...	ORPHA:75234
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Increased circulating IgE level, Recurrent sinusitis, B lymphocytop...	ORPHA:217390
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Hypoglycemia	OMIM:615158
Immunodeficiency 15A	Decreased proportion of memory B cells, Chronic mucocutaneous candidiasis, Cutaneous abscess, Acn...	OMIM:618204
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi...	ORPHA:3077
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Leukocyte Adhesion Deficiency Type Ii	Recurrent pneumonia, Keratitis, Failure to thrive, Microcytic anemia, Recurrent otitis media, Leu...	ORPHA:99843
Non-Acquired Isolated Growth Hormone Deficiency	Microphallus, Decreased muscle mass, Delayed puberty, Abdominal obesity, Anterior hypopituitarism	ORPHA:631
Dengue Fever	Epistaxis, Gastrointestinal hemorrhage, Hypotension, Diarrhea, Ascites, Leukopenia, Nausea and vo...	ORPHA:99828
Bardet-Biedl Syndrome 6	Obesity, Diabetes mellitus	OMIM:605231
Glycogen Storage Disease Ixc	Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Fasting hypoglycemia, ...	OMIM:613027
Carcinoid Syndrome	Increased serum serotonin, Abnormal circulating B-type natriuretic peptide concentration, Lack of...	ORPHA:100093
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Neuroendocrine Tumor Of The Rectum	Increased serum serotonin, Protracted diarrhea, Weight loss, Anorexia, Hepatomegaly, Abdominal pa...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Increased serum serotonin, Protracted diarrhea, Weight loss, Anorexia, Hepatomegaly, Abdominal pa...	ORPHA:100082
Trisomy 18P	Polyphagia, Attention deficit hyperactivity disorder, Facial palsy, Bilateral cryptorchidism	ORPHA:1715
Ménétrier Disease	Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Malnutrition, Helicobac...	ORPHA:2494
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Failure to thrive, Hyperglycinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Low plasm...	OMIM:620358
Mitochondrial Pyruvate Carrier Deficiency	Hepatomegaly, Increased serum pyruvate, Hypoglycemia	OMIM:614741
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Obesity, Maturity-onset diabetes of the young, Feeding difficulties	ORPHA:254531
Wilson-Turner Syndrome	Hypogonadotropic hypogonadism, Cryptorchidism, Truncal obesity	ORPHA:3459
Spastic Paraplegia 11, Autosomal Recessive	Skeletal muscle atrophy, Lower limb muscle weakness, Obesity, Thenar muscle atrophy, Dysphagia	OMIM:604360
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Pneumonia, Reduced natural killer cell count, Diarrhea, Failure to thrive, Decreased circulating ...	OMIM:242860
Immunodeficiency 61	Attention deficit hyperactivity disorder, Obesity	OMIM:300310
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Diabetes mellitus	OMIM:612526
Relapsing Fever	Epistaxis, Hypotension, Diarrhea, Vomiting, Increased total bilirubin, Elevated circulating creat...	ORPHA:91547
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Decreased response to growth hormone stimulation test, Truncal obesity, Anterior pituitary hypopl...	OMIM:618160
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Vomiting, Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating ...	OMIM:600649
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni...	OMIM:603909
Estrogen Resistance	Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Glucose intolerance, Polycystic ovar...	OMIM:615363
Encephalopathy, Ethylmalonic	Elevated circulating butyrylcarnitine concentration, Chronic diarrhea, Failure to thrive, Feeding...	OMIM:602473
Graft Versus Host Disease	Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Hyperbiliru...	ORPHA:39812
X-Linked Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98863
Autoimmune Lymphoproliferative Syndrome	Vasculitis, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Fol...	OMIM:601859
Angelman Syndrome	Self-injurious behavior, Precocious puberty in females, Delayed menarche, Obesity, Inappropriate ...	ORPHA:72
Hypertriglyceridemia 1	Hypopituitarism, Glucose intolerance	OMIM:145750
Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98853
Placental Insufficiency	Insulin resistance, Small for gestational age	ORPHA:439167
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Vasculitis, Hematochezia, Inflammation of the large intestine, Re...	OMIM:617718
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Delayed...	ORPHA:52901
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Man1B1-Cdg	Polyphagia, Truncal obesity	ORPHA:397941
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Hypoglycemia	OMIM:223500
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Diarrhea, Vomiting, Failure to thrive, Cachexia, Weight loss, Feeding difficulties	OMIM:612075
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio...	OMIM:267700
Neuroendocrine Tumor Of The Colon	Increased serum serotonin, Hypotension, Lack of bowel sounds, Right ventricular failure, Protract...	ORPHA:100080
Folate Malabsorption, Hereditary	Diarrhea, Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Malabsorption, F...	OMIM:229050
Immunodeficiency 22	Decreased circulating IgG level, Diarrhea, Failure to thrive, Protracted diarrhea, Ascites, Decre...	OMIM:615758
Pediatric-Onset Graves Disease	Polydipsia, Failure to thrive, Graves disease, Goiter, Puberty and gonadal disorders, Increased c...	ORPHA:525731
Reni Syndrome	Hypoalbuminemia, Hypoglycemia, Hypogonadism, Lymphopenia, Adrenal insufficiency, Hypothyroidism, ...	OMIM:617575
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Recurrent pneumonia, Increased circulating interleukin 8 concentration, Failure to thrive in infa...	OMIM:301220
Whipple Disease	Diarrhea, Cachexia, Anorexia, Hepatomegaly, Abdominal pain, Gastrointestinal hemorrhage, Malabsor...	ORPHA:3452
Immunodeficiency 82 With Systemic Inflammation	Diarrhea, Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hype...	OMIM:619381
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Decreased c...	OMIM:620210
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Premature ovarian insufficiency, Obesity, Foot dorsiflexor weakness	OMIM:618124
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Atrioventricular block, Cardiomyopathy, Hypoglycemia, Hepatic steatosis, Hyperammone...	OMIM:212138
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Attention deficit hyperactivity disorder, Obesity	OMIM:618725
Congenital Myopathy 9A	Obesity, EMG: myopathic abnormalities, Cryptorchidism	OMIM:618822
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Malabsorption, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice	ORPHA:172
Legionnaires Disease	Bone marrow hypocellularity, Hypotension, Diarrhea, Hepatitis, Lymphopenia, Nausea and vomiting, ...	ORPHA:549
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Diarrhea, Failure to thrive, Eczematoid dermatitis, Hypocalcemic tetany, Malabsorption...	ORPHA:83471
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Classic Galactosemia	Hepatic failure, Diarrhea, Vomiting, Hypoglycemia, Ascites, Abnormal erythrocyte enzyme concentra...	ORPHA:79239
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Diarrhea, Vomiting, Recurrent hypoglycemia, Splenomegaly, Elevated circulating ...	ORPHA:79240
Sepsis In Premature Infants	Diarrhea, Decreased body weight, Neutropenia, Abdominal distention, Hepatomegaly, Elevated circul...	ORPHA:90051
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hypogonadism, Obesity, Cryptorchidism	OMIM:601794
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:79159
Staphylococcal Necrotizing Pneumonia	Pneumonia, Hypotension, Shock, Leukopenia, Leukocytosis, Increased circulating procalcitonin conc...	ORPHA:36238
Congenital Enterovirus Infection	Hypoalbuminemia, Fetal ascites, Hypotension, Hepatic failure, Hepatitis, Cardiomyopathy, Cholesta...	ORPHA:292
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short stature, Hyperinsulinemia, Splenomegaly	ORPHA:66518
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Premature ovarian insufficiency, Truncal obesity, Camptodactyly of finger	ORPHA:2928
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol response to insulin...	ORPHA:361
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Postnatal growth retardation, Decreased serum insulin-like growth factor 1, Delayed puberty, Shor...	OMIM:618985
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ...	OMIM:616860
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Lymphadenitis, Failure to thrive, Protrac...	ORPHA:331206
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Diarrhea, Pulmonary embolism, Vomiting, Intestinal lymphangiectasia, Ascites, Bu...	OMIM:226300
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Nausea and vomiting, Lymphadenopath...	ORPHA:79477
Infantile Sialic Acid Storage Disease	Failure to thrive, Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, V...	OMIM:269920
Renal Glucosuria	Polyphagia, Polydipsia	OMIM:233100
Gangliocytoma	Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Decreased female libido, Adrenocor...	ORPHA:251937
Chung-Jansen Syndrome	Obesity, Cryptorchidism, Aggressive behavior, Attention deficit hyperactivity disorder, Impulsivity	OMIM:617991
Good Syndrome	Thymoma, Diarrhea, Aplasia/Hypoplasia of the thymus, Recurrent skin infections, Abnormal leukocyt...	ORPHA:169105
Farber Disease	Hepatic fibrosis, Hepatic failure, Failure to thrive, Ascites, Hepatosplenomegaly, Lymphadenopath...	ORPHA:333
Congenital Tufting Enteropathy	Cholestatic liver disease, Vomiting, Secretory diarrhea, Failure to thrive, Malabsorption, Puncta...	ORPHA:92050
3-Methylcrotonyl-Coa Carboxylase Deficiency	Failure to thrive in infancy, Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentr...	ORPHA:6
Immunodeficiency 7	Diarrhea, Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune ...	OMIM:615387
Glycogen Storage Disease Ib	Inflammation of the large intestine, Hypoglycemia, Hyperlipidemia, Splenomegaly, Hyperuricemia, G...	OMIM:232220
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Abnormality of connective tissue, Reduced muscle fiber alpha dy...	ORPHA:370968
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	ORPHA:486815
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis, Arthritis	ORPHA:139436
Chylomicron Retention Disease	Diarrhea, Vomiting, Failure to thrive, Malnutrition, Steatorrhea	OMIM:246700
Deeah Syndrome	Exocrine pancreatic insufficiency, Decreased response to growth hormone stimulation test, Panhypo...	OMIM:619004
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Diarrhea, Congestive heart failure, Protracted diarrhea, Bloody diarrhea, Leukoc...	ORPHA:67
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Dilated cardiomyopathy, Diarrhea, Recurrent hypoglycemia, Anorexia, Leukopenia, Leuk...	ORPHA:20
Wolcott-Rallison Syndrome	Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Ascites, E...	ORPHA:1667
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Exocrine pancreatic insufficie...	OMIM:618268
Symptomatic Form Of Hfe-Related Hemochromatosis	Hyperglycemia, Arrhythmia, Cirrhosis, Elevated jugular venous pressure, Weight loss, Hepatomegaly...	ORPHA:465508
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentration, Splenomega...	ORPHA:417
Autosomal Agammaglobulinemia	Bronchiectasis, Diarrhea, Failure to thrive, Hepatitis, Osteomyelitis, Malabsorption, Skin rash, ...	ORPHA:33110
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Congenital Short Bowel Syndrome	Decreased intestinal transit time, Vomiting, Failure to thrive, Abnormal peristalsis, Abdominal d...	OMIM:615237
13Q12.3 Microdeletion Syndrome	Failure to thrive, Obesity, Congenital diaphragmatic hernia, Self-mutilation, Cryptorchidism, Hyp...	ORPHA:412035
Hemochromatosis, Type 1	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:235200
Craniopharyngioma	Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad...	ORPHA:54595
Retinal Dystrophy And Microvillus Inclusion Disease	Chronic diarrhea, Bronchiectasis	OMIM:619446
Bile Acid Malabsorption, Primary, 2	Periportal fibrosis, Decreased circulating chenodeoxycholic acid concentration, Copper accumulati...	OMIM:619481
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Elevated circulati...	ORPHA:457077
Ectodermal Dysplasia And Immunodeficiency 2	Failure to thrive, Recurrent infection of the gastrointestinal tract, Splenomegaly, Defective pro...	OMIM:612132
Trisomy 5P	Obesity, Hypoplasia of penis	ORPHA:1742
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Male hypogonadism, Bruxism, Obesity, Wrist flexion contracture, Macroorchidism, Facial hypotonia,...	OMIM:300055
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia	OMIM:261650
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepa...	OMIM:308230
Laurence-Moon Syndrome	Obesity, Type II diabetes mellitus, Cryptorchidism, Displacement of the urethral meatus, Hypoplas...	ORPHA:2377
Dominant Beta-Thalassemia	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231226
Coenzyme Q10 Deficiency, Primary, 2	Obesity, Overweight, Bulimia	OMIM:614651
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukopenia, Increased ci...	ORPHA:319218
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,...	ORPHA:2235
Congenital Generalized Lipodystrophy	Clitoral hypertrophy, Precocious puberty in females, Failure to thrive, Overgrowth of external ge...	ORPHA:528
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased total bilirubin, Increased circul...	OMIM:603553
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Diarrhea, Gastroesophageal reflux, Failure to thrive, Hypoglycemia, Increased circul...	ORPHA:35708
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
B4Galt1-Cdg	Inflammatory abnormality of the skin, Diarrhea, Splenomegaly, Elevated circulating creatine kinas...	ORPHA:79332
Endocardial Fibroelastosis	Restrictive cardiomyopathy, Anterior hypopituitarism, Hypoglycemia, Congestive heart failure	ORPHA:2022
Glucose-Galactose Malabsorption	Diarrhea, Vomiting, Failure to thrive, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, ...	ORPHA:35710
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Hyperbilirub...	OMIM:613986
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Gastroesophageal reflux, Hepa...	OMIM:201475
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia...	ORPHA:309108
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Polyphagia, Obesity, Delayed puberty	ORPHA:251004
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Increased LDL cholesterol concentration, Hepatospleno...	OMIM:616828
Vitreoretinochoroidopathy	Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of chorioretinal pigmentatio...	OMIM:193220
Immunodeficiency 13	Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Decreased CD4:CD8 ratio, Decreased prop...	OMIM:615518
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s...	OMIM:618969
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hepatomegaly	ORPHA:363400
11Q22.2Q22.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors	ORPHA:444002
Niemann-Pick Disease, Type A	Vomiting, Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, He...	OMIM:257200
Sandhoff Disease	Hepatosplenomegaly, Cardiomegaly, Episodic abdominal pain, Orthostatic hypotension, Hepatomegaly,...	OMIM:268800
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly	ORPHA:75563
Central Diabetes Insipidus	Diarrhea, Failure to thrive, Nausea and vomiting, Weight loss, Anorexia	ORPHA:178029
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Cryptorchidism, Gon...	OMIM:194072
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Attention deficit hyperactivity disorder, Overweight, Motor stereotypy	OMIM:620065
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Obesity, Macroorchidism	OMIM:300238
Mevalonic Aciduria	Diarrhea, Vomiting, Fluctuating splenomegaly, Failure to thrive, Failure to thrive in infancy, Mo...	OMIM:610377
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Hypoglycemia, Decreased body weight, Feeding difficulties in infancy, Neonatal hypoglycemia, Smal...	ORPHA:231140
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Pseudohypoparathyroidism Type 1C	Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease...	ORPHA:79444
Borjeson-Forssman-Lehmann Syndrome	Small scrotum, Skeletal muscle atrophy, Hypogonadism, Decreased testicular size, Cryptorchidism, ...	ORPHA:127
Attrv30M Amyloidosis	Diarrhea, Weight loss, Constipation	ORPHA:85447
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Bronchial Neuroendocrine Tumor	Increased serum serotonin, Pneumonia, Hypotension, Cardiogenic shock, Right ventricular failure, ...	ORPHA:97287
Acth-Independent Macronodular Adrenal Hyperplasia	Skeletal muscle atrophy, Increased circulating cortisol level, Decreased circulating ACTH concent...	OMIM:219080
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Failure to thrive, Hypoglycemia, Truncal obesity, Small for gestational age	ORPHA:73272
Congenital Disorder Of Glycosylation, Type Ib	Hepatic fibrosis, Protein-losing enteropathy, Villous atrophy, Cirrhosis, Hyperinsulinemic hypogl...	OMIM:602579
2P21 Microdeletion Syndrome	Hypogonadism, Failure to thrive, Hypocalcemia, Hypoglycemia	ORPHA:163693
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Obesity, Ragged-red muscle fibers, Left ventricular hypertrophy, Achille...	OMIM:615418
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Gastrojejunal tube feeding in infancy, Feeding difficulties in infancy, Small for gestational age...	ORPHA:231147
Sheehan Syndrome	Central adrenal insufficiency, Decreased serum estradiol, Obesity, Palpitations, Decreased circul...	ORPHA:91355
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Arrhythmia, He...	ORPHA:26793
Tyrosinemia, Type I	Acute hepatic failure, Cirrhosis, Hepatomegaly, Gastrointestinal hemorrhage, Ascites, Hypertrophi...	OMIM:276700
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Hypogonadism, Malabsorption, Intestinal obstruction, Telangiecta...	OMIM:601675
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Diarrhea, Periodontitis, Hepatic steatosis, Hepatomegaly, Ch...	ORPHA:79259
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Type II diabetes mellitus, Truncal obesity, Abdominal obesity	OMIM:615812
Post-Traumatic Pituitary Deficiency	Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Decrease...	ORPHA:95619
Galactose Epimerase Deficiency	Nausea and vomiting, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Feeding difficulties	ORPHA:79238
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Hepatomeg...	OMIM:620010
Infantile Systemic Hyalinosis	Aplasia/Hypoplasia of the thymus, Failure to thrive, Malabsorption, Abnormality of the adrenal gl...	ORPHA:2176
Silver-Russell Syndrome	Insulin resistance, Gastroesophageal reflux, Recurrent hypoglycemia, Failure to thrive in infancy...	ORPHA:813
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Congenital Isolated Acth Deficiency	Hypotension, Hypoglycemic seizures, Adrenocorticotropin deficient adrenal insufficiency, Hepatiti...	ORPHA:199296
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Left ventricular systolic dysfunction, Right ventricular hypertrophy, Abnormal macrophage morphol...	ORPHA:353
Congenital Myopathy 20	Chronic diarrhea, Failure to thrive	OMIM:620310
Nephronophthisis 15	Obesity	OMIM:614845
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Corneal neovascu...	OMIM:617388
Congenital Enterocyte Heparan Sulfate Deficiency	Diarrhea, Hematochezia, Weight loss, Abdominal distention	ORPHA:103910
Hereditary Amyloidosis With Primary Renal Involvement	Diarrhea, Abnormal lymph node morphology, Hepatosplenomegaly, Intestinal obstruction, Weight loss...	ORPHA:85450
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Hepatome...	OMIM:615688
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Decreased muscle mass, Hypogonadism, Decreased testicular size, External genital hypoplasia, Redu...	ORPHA:3041
Radiculoneuropathy, Fatal Neonatal	Chronic diarrhea	OMIM:266250
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Hypogonadism, Obesity, Cryptorchidism, Hypoplasia of penis, Flexion cont...	ORPHA:3409
Trichothiodystrophy 5, Nonphotosensitive	Panhypopituitarism, Chronic decreased circulating IgG1, Chronic diarrhea	OMIM:300953
Houge-Janssens Syndrome 1	Chronic diarrhea, Hypoglycemia	OMIM:616355
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Pigmented Nodular Adrenocortical Disease, Primary, 1	Decreased circulating dehydroepiandrosterone concentration, Secondary amenorrhea, Increased circu...	OMIM:610489
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Vomiting, Failure to thrive, Polysplenia, Hypoglycem...	OMIM:619418
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta...	ORPHA:785
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Failure to thrive, Hypoglycemia, Hyperglycinemia, Neonatal death, Hypertaurinemia, Feeding diffic...	OMIM:245400
Beta-Thalassemia Major	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231214
Combined Oxidative Phosphorylation Deficiency 54	Obesity, Hypergonadotropic hypogonadism, Lower limb muscle weakness, Primary amenorrhea	OMIM:619737
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Increased circu...	ORPHA:829
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Hypoglycemia, Elevated circulating tiglylglycine concentration	OMIM:300438
Akt2-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, P...	ORPHA:79085
Smith-Kingsmore Syndrome	Hypoglycemia, Decreased circulating IgA level, Large for gestational age, Thrombocytopenia, Feedi...	OMIM:616638
Wolman Disease	Hepatic failure, Malnutrition, Ascites, Adrenal calcification, Adrenal insufficiency, Nausea and ...	ORPHA:75233
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Obesity	OMIM:616756
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating IgG level, Diarrhea, Decreased circulating IgA level, B lymphocy...	OMIM:614069
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity	ORPHA:276630
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Hypoglycemia, Hypertrophic cardiomyopathy, Transient hyperlipidemia, Arrhythmia,...	ORPHA:156
Hurler Syndrome	Cardiomyopathy, Splenomegaly, Angina pectoris, Abnormality of the tonsils, Hepatomegaly, Rhinitis...	ORPHA:93473
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Irregular menstruation, Abnormal libido, Pituitary adenoma, Increased circulating cortisol level,...	ORPHA:189427
Abdominal Obesity-Metabolic Syndrome 4	Obesity, Type II diabetes mellitus	OMIM:618620
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Hypogonadotropic hypogonadism, Ab...	OMIM:616113
Galactosemia I	Increased level of galactitol in red blood cells, Diarrhea, Vomiting, Failure to thrive, Decrease...	OMIM:230400
Rafiq Syndrome	Aggressive behavior, Obesity, Flexion contracture, Truncal obesity	OMIM:614202
Bacterial Toxic-Shock Syndrome	Diarrhea, Abscess, Glomerulonephritis, Tachycardia, Abdominal pain, Recurrent skin infections, Sh...	ORPHA:36234
Inflammatory Bowel Disease (Crohn Disease) 30	Vomiting, Esophagitis, Pancolitis, Gastritis, Abdominal pain, Chronic diarrhea, Bloody diarrhea	OMIM:619079
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ...	OMIM:614736
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level	OMIM:612126
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diarrhea, Diabetes mellitus, Anorexia	ORPHA:49827
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Lipoma, Obesity, Oral-pharyngeal dysphagia	ORPHA:480907
Summitt Syndrome	Tall stature, Obesity, Camptodactyly of finger	ORPHA:3210
Thrombotic Thrombocytopenic Purpura	Diarrhea, Microangiopathic hemolytic anemia, Reticulocytosis, Arrhythmia, Thrombocytopenia, Decre...	ORPHA:54057
Bardet-Biedl Syndrome 19	Hypogonadism, Obesity, External genital hypoplasia	OMIM:615996
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Wagr Syndrome	Obesity, Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus	ORPHA:893
Lysosomal Acid Lipase Deficiency	Diarrhea, Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Fatal li...	ORPHA:275761
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Malnutrition, Protracted diarrhea	OMIM:251850
Secondary Short Bowel Syndrome	Central hypothyroidism, Failure to thrive, Primary hypothyroidism, Polyphagia, Weight loss	ORPHA:95427
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Hypoglycemia, Tricuspid regurgitation, Mitral regurgitation,...	OMIM:620300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Xp22.13P22.2 Duplication Syndrome	Umbilical hernia, Congenital diaphragmatic hernia, Polycystic ovaries, Attention deficit hyperact...	ORPHA:284180
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Dilated cardiomyopathy, Hyperammonemia, Hypoglycemia, Elevated circulating creatine kinase concen...	OMIM:618120
Glutaric Aciduria Iii	Diarrhea, Vomiting, Failure to thrive	OMIM:231690
Lysinuric Protein Intolerance	Diarrhea, Intraalveolar phospholipid accumulation, Hemophagocytosis, Failure to thrive, Increased...	OMIM:222700
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal circula...	ORPHA:391487
Gaucher Disease Type 1	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Increased circulating antibody level, Cirrhosis,...	ORPHA:77259
Familial Mediterranean Fever	Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's disease...	OMIM:249100
Combined Oxidative Phosphorylation Deficiency 47	Hepatomegaly, Dysphagia, Failure to thrive, Hypoglycemia	OMIM:618958
Mitochondrial Neurogastrointestinal Encephalomyopathy	Diarrhea, Gastroesophageal reflux, Vomiting, Nausea, Hypogonadotropic hypogonadism, Cachexia, Cir...	ORPHA:298
Congenital Toxoplasmosis	Diarrhea, Ascites, Failure to thrive in infancy, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thr...	ORPHA:858
Growth Hormone Deficiency, Isolated Partial	Decreased response to growth hormone stimulation test, Postnatal growth retardation, Small pituit...	OMIM:615925
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges...	ORPHA:231222
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Acute hepatic failure, Interstitial pneumonitis, Skin rash, Infectious encephalitis, P...	ORPHA:139402
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Umbilical hernia, Myopathy, Hypothyroidism, Macroglossia, Skeletal muscle hypertrophy	ORPHA:2349
Babesiosis	Hepatic failure, Congestive heart failure, Leukopenia, Nausea and vomiting, Splenomegaly, Thrombo...	ORPHA:108
Pfapa Syndrome	Malabsorption, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Weight loss, Lymphaden...	ORPHA:42642
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Cholestasis...	OMIM:615710
Rabson-Mendenhall Syndrome	Precocious puberty, Postprandial hyperglycemia, Insulin resistance, Insulin-resistant diabetes me...	ORPHA:769
Cholestasis-Lymphedema Syndrome	Erysipelas, Malabsorption, Hyperlipidemia, Splenomegaly, Neonatal cholestatic liver disease, Cirr...	OMIM:214900
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:26791
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Cirrhosis, Bronchiectasis, H...	OMIM:613490
Weaver Syndrome	Joint contracture of the hand, Umbilical hernia, Diastasis recti, Inguinal hernia, Cryptorchidism...	OMIM:277590
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Failure to thrive, Hypoglycemia, Hyperammonemia, Hyperalaninemia, Feeding difficulties	OMIM:614739
Pyruvate Carboxylase Deficiency	Hepatomegaly, Increased serum pyruvate, Hyperalaninemia, Hypoglycemia	OMIM:266150
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Hypoglycemia, Frequent Giardia lamblia infe...	OMIM:615577
Microphthalmia/Coloboma 12	Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula...	OMIM:120200
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Diarrhea, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrh...	OMIM:601847
Avian Influenza	Hypoalbuminemia, Pneumonia, Myelitis, Diarrhea, Vomiting, Hepatitis, Congestive heart failure, Ly...	ORPHA:454836
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t...	ORPHA:64743
Intellectual Developmental Disorder, Autosomal Dominant 1	Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Ag...	OMIM:156200
Cinca Syndrome	Leukocytosis, Splenomegaly, Nausea and vomiting, Hepatomegaly, Anemia, Inflammatory abnormality o...	ORPHA:1451
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Recurrent pneumonia, Failure to thrive, Hyperinsulinemia, Decreased circulati...	OMIM:613327
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Failure to thrive, Hypoglycemia, Congestive heart failure, Hyperammonemia...	OMIM:620609
Tenorio Syndrome	Recurrent pneumonia, Gastroesophageal reflux, Hypoglycemia, Recurrent aphthous stomatitis, Syncop...	OMIM:616260
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Maturity-onset diabetes of the young, Obesity, Truncal obesity, Small for gestational age, Feedin...	ORPHA:96184
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Failure to thrive, Hyp...	OMIM:607765
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia, Poor suck	OMIM:615026
Acrodysostosis 2 With Or Without Hormone Resistance	Hypospadias, Congenital hypothyroidism, Obesity, Cryptorchidism, Hyperactivity, Diabetes mellitus	OMIM:614613
Cholestasis, Progressive Familial Intrahepatic, 1	Epistaxis, Cholelithiasis, Diarrhea, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cho...	OMIM:211600
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L...	ORPHA:514
Snakebite Envenomation	Epistaxis, Hypotension, Cardiogenic shock, Diarrhea, Vomiting, Neuromuscular dysphagia, Pseudobul...	ORPHA:449285
Dubowitz Syndrome	Decreased circulating IgG level, Gastroesophageal reflux, Aplastic anemia, Eczematoid dermatitis,...	OMIM:223370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Joint contracture of the hand, Muscular dystrophy, Elbow flexion contracture, Calf muscle hypertr...	OMIM:608840
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a...	ORPHA:231154
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Diarrhea, Vomiting, Hypoglycemia, Hepatic steatosis, Hyperuricemia, ...	ORPHA:348
Pituitary Apoplexy	Hypotension, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prola...	ORPHA:95613
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Failure to thrive, Cong...	OMIM:609015
Infantile Liver Failure Syndrome 2	Vomiting, Hypoglycemia, Cardiomyopathy, Acute hepatic failure, Hyperammonemia, Jaundice	OMIM:616483
Intellectual Developmental Disorder, X-Linked 107	Attention deficit hyperactivity disorder, Aggressive behavior, Obesity, Hyperactivity	OMIM:301013
Harderoporphyria	Neonatal hyperbilirubinemia, Vomiting, Increased circulating ferritin concentration, Reticulocyto...	OMIM:618892
Congenital-Onset Steinert Myotonic Dystrophy	Diarrhea, Gastroesophageal reflux, Obesity, Encopresis, Decreased body weight, Constipation, Abdo...	ORPHA:589821
7Q11.23 Microduplication Syndrome	Self-injurious behavior, Hypospadias, Aplasia/hypoplasia of the uterus, Obesity, Inguinal hernia,...	ORPHA:96121
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis, Maculopapular exanthema	ORPHA:157991
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Corneal neovascularization, Ke...	OMIM:158310
Timothy Syndrome	Pneumonia, Atrioventricular block, Hypoglycemia, Hypocalcemia, Cardiomegaly, Pulmonary arterial h...	OMIM:601005
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Failure to thrive, Hypoglycemia, Ascites, Hyperammonemia, Cirrhosis, Jaundice, C...	OMIM:617049
Sandhoff Disease, Juvenile Form	Diarrhea, Dysphagia, Failure to thrive, Constipation	ORPHA:309162
Morgagni-Stewart-Morel Syndrome	Obesity, Abnormality of the thyroid gland, Hypothyroidism, Abnormality of the endocrine system, D...	ORPHA:77296
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Hypotension, Diarrhea, Vomiting, Increased circul...	ORPHA:542323
Chromosome 2Q37 Deletion Syndrome	Self-injurious behavior, Obesity, Stereotypical hand wringing, Skin-picking, Aggressive behavior,...	OMIM:600430
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Nausea and vomiting, Wei...	ORPHA:3226
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Splenomegaly, Eosinophilia, Hepatomegaly, Myeloproliferative disorder	OMIM:607685
Combined Oxidative Phosphorylation Deficiency 36	Hyperalaninemia, Failure to thrive, Hypoglycemia	OMIM:617950
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Cardiomyopathy, Hypoketotic hy...	ORPHA:228305
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Vasculitis, Uveitis, Diarrhea, Vomiting, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Skin ...	ORPHA:32960
Pseudohypoparathyroidism Type 1A	Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Decrease...	ORPHA:79443
Carnitine Palmitoyltransferase I Deficiency	Diarrhea, Hypoketotic hypoglycemia, Hyperammonemia, Hepatic steatosis, Elevated circulating creat...	OMIM:255120
Laron Syndrome	Hypoglycemia, Delayed puberty, Hypercholesterolemia, Truncal obesity, Osteoarthritis, Abnormality...	ORPHA:633
15Q24 Microdeletion Syndrome	Failure to thrive, Microphallus, Decreased response to growth hormone stimulation test, Obesity, ...	ORPHA:94065
Glycogen Storage Disease Ia	Hypoglycemia, Hyperlipidemia, Gout, Hyperuricemia, Pancreatitis, Delayed puberty, Fasting hypogly...	OMIM:232200
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Diarrhea, Lipid accumulation in hepatocytes, Arrhythmia, Feeding difficulties in infancy, Hepatom...	OMIM:608836
Idiopathic Intracranial Hypertension	Nausea, Obesity, Vomiting	ORPHA:238624
Shox-Related Short Stature	Obesity, Skeletal muscle hypertrophy	ORPHA:314795
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice	OMIM:179700
Congenital Disorder Of Glycosylation, Type Iie	Gastroesophageal reflux, Failure to thrive, Hypoglycemia, Congestive heart failure, Decreased liv...	OMIM:608779
Typhoid	Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Skin rash, Infectious encephaliti...	ORPHA:99745
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Diarrhea, Failure to thrive, Hyperbilirubinemia, Splen...	OMIM:235555
Cerebrooculofacioskeletal Syndrome 1	Insulin resistance, Small for gestational age, Failure to thrive	OMIM:214150
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Failure to thrive, Decreased serum testosterone concentration, Hypogonadism, Splenomega...	OMIM:201100
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c...	ORPHA:139507
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Abnormal T cell count, Diarrhea, Panhypogammaglobulinemia, Decreased response to growt...	OMIM:307200
Adult Acute Respiratory Distress Syndrome	Pneumonia, Vasculitis, Abnormal circulating interleukin concentration, Hypotension, Abnormality o...	ORPHA:70578
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Intermittent diarrhea, Gastroesophageal reflux, Feeding difficulties, Malnutrition	OMIM:619971
Atkin-Flaitz Syndrome	Obesity, Macroorchidism	ORPHA:1193
Autoinflammatory Disease, Systemic, With Vasculitis	Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Hepatomegaly, Elevated...	OMIM:620376
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Abnormal fear-induced behavior, Pituitary adenoma, Increased circulating...	OMIM:219090
Systemic Mastocytosis With Associated Hematologic Neoplasm	Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Hepatome...	ORPHA:98849
Maple Syrup Urine Disease, Type Ia	Elevated circulating branched chain amino acid concentration, Vomiting, Hypoglycemia, Elevated ci...	OMIM:248600
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Hypothalami...	OMIM:308700
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Failure to thrive, Malabsorption, Neonatal cholestatic liver disease...	ORPHA:79301
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Weight loss, Lymphadenopathy, Anorexia, Hepatomegaly	ORPHA:86893
Immunodeficiency 68	Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, Abnormal ...	OMIM:612260
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hypotension, Vomiting, Diarrhea, Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoa...	OMIM:177735
Maculopapular Cutaneous Mastocytosis	Abdominal pain, Vomiting, Diarrhea, Nausea	ORPHA:79457
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
Hereditary Folate Malabsorption	Cheilitis, Diarrhea, Gastroesophageal reflux, Failure to thrive, Pancytopenia, Nausea and vomitin...	ORPHA:90045
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Elevated cir...	ORPHA:85414
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Conjunctivitis, Lymphopenia, Splenomegaly, Skin rash, Increased circulating an...	OMIM:617591
Hypogonadism, Male	Testicular atrophy, Hypospadias, Male hypogonadism, Micropenis	OMIM:241100
Adrenocortical Carcinoma	Increased circulating cortisol level, Abnormality of reproductive system physiology, Increased ur...	ORPHA:1501
Mandibuloacral Dysplasia	Insulin resistance, Insulin-resistant diabetes mellitus, Abnormal tongue morphology, Postnatal gr...	ORPHA:2457
48,Xxxy Syndrome	Small scrotum, Abnormal dental enamel morphology, Tall stature, Obesity, Hypogonadism, Type II di...	ORPHA:96263
Immunodeficiency 31C	Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Lymphopenia, Osteomyelitis, A...	OMIM:614162
Immunodeficiency 54	Reduced natural killer cell count, Failure to thrive, Adrenal insufficiency, Splenomegaly, Adreno...	OMIM:609981
Methanol Poisoning	Type I diabetes mellitus, Diarrhea, Vomiting, Permanent atrial fibrillation, Inflammatory arterio...	ORPHA:31825
Autosomal Dominant Severe Congenital Neutropenia	Pneumonia, Diarrhea, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, ...	ORPHA:486
Orthostatic Hypotension 2	Anemia, Orthostatic hypotension, Hypoglycemia	OMIM:618182
Somatostatinoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na...	ORPHA:97283
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty, Obesity	ORPHA:254525
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Cryptorchidism, Aggressive behavior, Attention deficit hyperactivity disorder, Abdominal obesity,...	OMIM:301039
Laurence-Moon Syndrome	Micropenis, Small scrotum, Obesity	OMIM:245800
Muscle Hypertrophy	Skeletal muscle hypertrophy	OMIM:614160
Clark-Baraitser Syndrome	Aggressive behavior, Obesity, Hyperactivity	OMIM:617752
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cholestatic liver disease, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hypoketo...	ORPHA:5
Aromatase Deficiency	Female infertility, Male infertility, Tall stature, Obesity, Ambiguous genitalia, female, Eunucho...	ORPHA:91
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Hypotension, Vom...	ORPHA:90791
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Irregular menstruation, Lipodystrophy, Decreased serum leptin, Diabe...	OMIM:615238
Spermatogenic Failure, X-Linked, 2	Testicular atrophy, Azoospermia, Spermatogenesis maturation arrest, Male infertility	OMIM:309120
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Obesity, Glucose intolerance, Hepatic failure, Impaired glucose tolerance	OMIM:615630
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Obesity, Inguinal hernia, Hip contracture, Amelogenesis imperfecta, Enamel hypoplasia, Truncal ob...	OMIM:618363
Glucagonoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Ac...	ORPHA:97280
Pseudohypoparathyroidism, Type Ic	Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ...	OMIM:612462
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity	OMIM:616418
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Infection-Related Hemolytic Uremic Syndrome	Diarrhea, Abdominal pain, Hyperkalemia, Abnormal circulating chemokine concentration, Gastrointes...	ORPHA:544482
Hypoadrenocorticism, Familial	Vomiting, Hypoglycemia, Adrenal insufficiency, Hyponatremia, Feeding difficulties in infancy, Adr...	OMIM:240200
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Splenomegaly, H...	OMIM:615234
Diamond-Blackfan Anemia 21	Aortic regurgitation, Obesity, Erythroid hypoplasia, Thrombocytopenia, Anemia, Chronic diarrhea	OMIM:620072
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Abdominal distention	OMIM:619445
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hypotension, Decreased circulating carnitine co...	ORPHA:159
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hypotension, Vomiting, Diarrhea, Failure to thrive, Hyperaldosteronism, Hyponatremia, Feeding dif...	OMIM:264350
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, A...	OMIM:613673
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low plasma citr...	OMIM:261680
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Diarrhea, Vomiting, Failure to thrive, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinem...	OMIM:250940
Pparg-Related Familial Partial Lipodystrophy	Secondary amenorrhea, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Myopath...	ORPHA:79083
X-Linked Intellectual Disability, Shashi Type	Obesity, Macroorchidism	ORPHA:85286
Corticosteroid-Binding Globulin Deficiency	Hypotension, Hypokalemia, Decreased circulating cortisol level, Anemia, Hypertension, Reduced cir...	OMIM:611489
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Abnormal hemoglobin, S...	ORPHA:848
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Vomiting, Failure to thrive, Hypoglycemia, Acute hyperammonemia, Feeding...	OMIM:210200
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased heart rate variability, Chronic constipation, Decreased body weight, Thrombocytopenia, ...	OMIM:619005
Megalencephaly	Macroorchidism, Long penis, Truncal obesity	ORPHA:2477
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hematochezia, Diarrhea, Hepatic failure, Hep...	OMIM:613812
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Reduced natural killer cell count, Recurrent pneumonia, Cut...	OMIM:243700
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Early satiety, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Hyperactive bowel...	OMIM:603041
Familial Multiple Lipomatosis	Insulin resistance, Overgrowth, Functional intestinal obstruction	ORPHA:199276
Early-Onset Familial Hypoaldosteronism	Hypotension, Vomiting, Failure to thrive, Hyponatremia, Elevated serum 11-deoxycortisol, Decrease...	ORPHA:556030
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227990
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Feeding difficulties, Hypoglycemia	OMIM:616111
Myopathy, Myofibrillar, 1	Diarrhea, Constipation	OMIM:601419
Pancreatoblastoma	Diarrhea, Vomiting, Weight loss, Abdominal distention, Abdominal pain	ORPHA:677
Congenital Syphilis	Pneumonia, Diarrhea, Keratitis, Extramedullary hematopoiesis, Hypoglycemia, Hepatosplenomegaly, M...	ORPHA:499009
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Severe temper tantrums, Obesity, Stereotypical hand wringing	OMIM:619854
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Vomiting, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopath...	OMIM:620646
Intellectual Developmental Disorder, Autosomal Recessive 13	Bruxism, Recurrent hand flapping, Hyperactivity, Truncal obesity	OMIM:613192
Pseudopseudohypoparathyroidism	Obesity, Enamel hypoplasia, Pseudohypoparathyroidism	OMIM:612463
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Portal fibrosis, Increased total iron binding capacity, Hyperb...	OMIM:616278
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Aicardi-Goutieres Syndrome 7	Diarrhea, Pancytopenia, Hepatic steatosis, Chilblains, Increased circulating antibody level, Weig...	OMIM:615846
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Gastroesophageal reflux, Failure to thrive, Hypogonadism, Chronic diarrhea, Chronic constipation,...	ORPHA:500055
Dracunculiasis	Diarrhea, Nausea and vomiting	ORPHA:231
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Failure to thrive, Hypoglycemia, Neonatal death, Elevated circulating creatine k...	OMIM:619055
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Hypoglycemia, Dec...	OMIM:617093
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo...	OMIM:308750
Progeria-Short Stature-Pigmented Nevi Syndrome	Decreased serum estradiol, Small for gestational age, Gastroesophageal reflux, Insulin-resistant ...	ORPHA:2959
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Vomiting, Type I diabetes mellitus, Diarrhea, Failure to thrive	OMIM:560000
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased adiponectin level, Increased adipose tissue around the neck, Increased facial adipose t...	ORPHA:280365
Glycogen Storage Disease Ic	Spider hemangioma, Inflammation of the large intestine, Hypoglycemia, Cyclic neutropenia, Hyperli...	OMIM:232240
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Umbilical hernia, Obesity, Cryptorchidism, Micropenis, Hypospadias	ORPHA:171839
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Skin rash, Lymphadenopathy,...	ORPHA:98848
Crimean-Congo Hemorrhagic Fever	Diarrhea, Morbilliform rash, Pancytopenia, Nausea and vomiting, Erythema nodosum, Neutrophilia, H...	ORPHA:99827
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Diarrhea, Vomiting, Hypoglycemia, Hepatic steatosis,...	OMIM:605911
Pigmented Nodular Adrenocortical Disease, Primary, 2	Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci...	OMIM:610475
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Hematochezia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatit...	OMIM:620565
Acquired Generalized Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Pol...	ORPHA:79086
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abn...	ORPHA:1414
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Diarrhea, Vomiting, Failure to thrive, Cerebral ischemia, Hyperammonemia, Acute hyperammonemia, H...	ORPHA:927
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Congenital hypothyroidism, Obesity	ORPHA:352530
Classic Mycosis Fungoides	Eczematoid dermatitis, Abnormal lymphocyte morphology, Splenomegaly, Skin rash, Lymphadenopathy, ...	ORPHA:2584
Kallmann Syndrome	Abnormal morphology of female internal genitalia, Breast hypoplasia, Hypothalamic gonadotropin-re...	ORPHA:478
Ileal Neuroendocrine Tumor	Increased serum serotonin, Arrhythmia, Weight loss, Abnormal bowel sounds, Functional intestinal ...	ORPHA:100078
Hyaline Fibromatosis Syndrome	Diarrhea, Failure to thrive	OMIM:228600
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Decreased testicular size, External genital hypoplasia, Cryptorchidism, Self-mutilation, Polyphag...	ORPHA:251028
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Obesity, Cryptorchidism	OMIM:615633
Vascular Hyalinosis	Hematochezia, Diarrhea, Malabsorption	OMIM:277175
Adnp Syndrome	Abnormal temper tantrums, Oral-pharyngeal dysphagia, Umbilical hernia, Inguinal hernia, Cryptorch...	ORPHA:404448
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Pneumonia, Vomiting, Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increa...	ORPHA:90790
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Decreased circulating carnitine concentration, Diarrhea, Hypoglycemia, Hyperammonemia, Hyperurice...	OMIM:246450
Autoimmune Polyendocrinopathy Type 3	Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Iridocyclitis, Tubulointerstitia...	ORPHA:227982
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy...	ORPHA:158029
Monosomy 13Q34	Insulin resistance, Hematochezia, Obesity	ORPHA:96168
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop...	ORPHA:381
Cholera	Hypovolemic shock, Hypotension, Diarrhea, Vomiting, Abdominal cramps, Hypoglycemia, Aspiration pn...	ORPHA:173
Retinal Dystrophy And Obesity	Obesity	OMIM:616188
Short Syndrome	Insulin resistance, Weight loss, Diabetes mellitus, Poor appetite	ORPHA:3163
Late-Onset Familial Hypoaldosteronism	Hypotension, Vomiting, Failure to thrive, Hyponatremia, Elevated serum 11-deoxycortisol, Decrease...	ORPHA:556037
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy, Feeding difficulties, Hypoglycemia	OMIM:618241
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating tetradecanoylcarnitine concentration, Hepatic failure, Hypoglycemia, Congest...	OMIM:619355
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Muscular dystrophy, Scapular muscle atrophy, Peroneal muscle weakness, Calf muscle hypertrophy, H...	OMIM:611588
Majeed Syndrome	Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Malabsorption, Leukocytos...	ORPHA:77297
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Abnormality of the ovary, Obesity, Increased serum testosterone level...	ORPHA:247768
Cog4-Cdg	Failure to thrive in infancy, Hepatosplenomegaly, Recurrent infection of the gastrointestinal tra...	ORPHA:263501
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Diarrhea, Ascites, Malabsorption,...	OMIM:602347
Sweet Syndrome	Abnormal circulating interleukin concentration, Dilated cardiomyopathy, Increased circulating int...	ORPHA:3243
Carpenter Syndrome	Umbilical hernia, Obesity, External genital hypoplasia, Cryptorchidism, Abnormal reproductive sys...	ORPHA:65759
Celiac Disease, Susceptibility To, 1	Type I diabetes mellitus, Diarrhea, Abdominal distention, Failure to thrive, Eczematoid dermatiti...	OMIM:212750
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Erythroderma, Lympha...	ORPHA:3162
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Hepatic failure, Pancytopenia, A...	ORPHA:398124
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat...	OMIM:618935
Clark-Baraitser syndrome	Tall stature, Obesity, Macroorchidism	OMIM:300602
American Trypanosomiasis	Diarrhea, Cardiomyopathy, Congestive heart failure, Splenomegaly, Skin rash, Infectious encephali...	ORPHA:3386
Acrodermatitis Enteropathica	Failure to thrive, Malabsorption, Chronic diarrhea, Pustule, Weight loss, Anorexia, Conjunctiviti...	ORPHA:37
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Hyperlipidemia, Hyperuricemia	ORPHA:364
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ...	ORPHA:1772
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Feeding difficulties in infancy, Small for gestational age, Hypoglycemia, Gastrostomy tube feedin...	ORPHA:231137
Multiple Acyl-Coa Dehydrogenase Deficiency	Vomiting, Elevated circulating glutaric acid concentration, Glycosuria, Hypoglycemia, Hepatic per...	OMIM:231680
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Lymphopenia, Psoriasiform dermatitis, Leukocytosis, Autoimmune hemolytic anemia, In...	OMIM:243150
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Obesity, Hyperactivity	ORPHA:397973
Primary Myelofibrosis	Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg...	ORPHA:824
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality	OMIM:607485
Bardet-Biedl Syndrome 3	External genital hypoplasia, Obesity	OMIM:600151
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Congestive heart failure, Cholestasis, Tricuspid regurgitation, Hypoketotic hypog...	ORPHA:746
Systemic Capillary Leak Syndrome	Hypotension, Diarrhea, Leukocytosis, Arrhythmia, Weight loss, Pancreatitis, Myocarditis, Abdomina...	ORPHA:188
Cornelia De Lange Syndrome 5	Hypogonadism, Decreased testicular size, Cryptorchidism, Truncal obesity, Micropenis	OMIM:300882
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Cardiomyopathy, Palpitations, Hyperlipidemia, Splenomegaly,...	ORPHA:565612
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Hepatomeg...	OMIM:612852
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Failure to thrive, Hypoglycemia, Decreased liver function, Hypertrophic cardiomy...	OMIM:618329
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Congenital diaphragmatic hernia, Omphalocele, Abnormality of the diaphragm	OMIM:601163
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Hepatic failure, Abdominal distention, Glycosuria, Failure to thrive,...	ORPHA:2088
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Felty Syndrome	Bone marrow hypocellularity, Recurrent pneumonia, Abnormal lymphocyte morphology, Episcleritis, S...	ORPHA:47612
Familial Partial Lipodystrophy, Dunnigan Type	Cellulitis, Myopathy, Dysmenorrhea, Polycystic ovaries, Lipodystrophy, Loss of subcutaneous adipo...	ORPHA:2348
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer...	OMIM:263300
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Dilated cardiomyopathy, Hypoglycemia, Congestive heart failure, Hypertrophic car...	OMIM:611126
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Prolidase Deficiency	Recurrent pneumonia, Failure to thrive, Eczematoid dermatitis, Splenomegaly, Increased circulatin...	OMIM:170100
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Kikuchi-Fujimoto Disease	Vasculitis, Abnormal lymph node morphology, Cervical lymphadenopathy, Anorexia, Leukopenia, Malar...	ORPHA:50918
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Hypoglycemia, Cardiomyopathy, Feeding difficulties, Thrombocytopenia	OMIM:617710
Dubowitz Syndrome	Eczematoid dermatitis, Malabsorption, Hypoparathyroidism, Chronic diarrhea, Thrombocytopenia, Ane...	ORPHA:235
Bardet-Biedl Syndrome 21	Obesity, Overweight	OMIM:617406
Caroli Disease	Cholestasis, Cirrhosis, Weight loss, Anorexia, Hepatomegaly, Abdominal pain, Jaundice, Intrahepat...	ORPHA:53035
Lysinuric Protein Intolerance	Diarrhea, Hemophagocytosis, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypergly...	ORPHA:470
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Gastroesophageal reflux, Recurrent hypoglycemia	OMIM:618158
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Intraalveolar phospholipid accumulation, Splenomegaly, Leuk...	OMIM:618042
X-Linked Intellectual Disability, Stevenson Type	Tall stature, Obesity, Feeding difficulties	ORPHA:85325
Lujo Hemorrhagic Fever	Hypotension, Diarrhea, Vomiting, Abdominal cramps, Shock, Lymphopenia, Leukopenia, Leukocytosis, ...	ORPHA:319213
Autoimmune Hepatitis	Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone...	ORPHA:2137
Alg12-Cdg	Hypoalbuminemia, Recurrent pneumonia, Gastroesophageal reflux, Failure to thrive, Recurrent hypog...	ORPHA:79324
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Diabetes mellitus	OMIM:615381
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Pneumonia, Failure to thrive, Cerebral vasculitis, Pure red cell aplasia, Lymphopen...	OMIM:613179
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Megarectum, Central hypothyroidism, Hyperaldoster...	ORPHA:508
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Failure to thrive, Hypoglycemia, Congestive...	OMIM:617156
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Intrauterine growth retardation,...	OMIM:601346
Hsd10 Disease, Infantile Type	Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Gastrointestinal dysmoti...	ORPHA:391428
Immunodeficiency 42	Recurrent aphthous stomatitis, Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal...	OMIM:616622
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co...	ORPHA:3202
X-Linked Intellectual Disability, Cabezas Type	Camptodactyly of finger, Hypogonadism, Decreased testicular size, Obesity, Inguinal hernia, Aggre...	ORPHA:85293
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Hemochromatosis, Type 4	Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance	OMIM:606069
Leukocyte Adhesion Deficiency, Type Iii	Epistaxis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leuk...	OMIM:612840
Mhc Class Ii Deficiency 1	Failure to thrive, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Protracted diarrh...	OMIM:209920
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Diarrhea, Vomiting, Failure to thrive, Decreased circulating IgA...	OMIM:275350
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:300559
Autosomal Dominant Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus...	ORPHA:169189
Rippling Muscle Disease 2	Calf muscle hypertrophy, Skeletal muscle hypertrophy	OMIM:606072
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Increased body weight, Attention deficit hyperactivity disorder, Cryptorchidism, Impulsivity	ORPHA:589905
Vici Syndrome	Decreased circulating IgG level, Dilated cardiomyopathy, Failure to thrive, Cardiomyopathy, Conge...	OMIM:242840
Inflammatory Skin And Bowel Disease, Neonatal, 2	Recurrent pneumonia, Vomiting, Secretory diarrhea, Failure to thrive, Increased circulating IgE l...	OMIM:616069
Adiposis Dolorosa	Obesity, Diarrhea, Xerostomia, Constipation	ORPHA:36397
H Syndrome	Bronchiectasis, Microcytic anemia, Hypogonadism, Hepatosplenomegaly, Facial telangiectasia, Abnor...	ORPHA:168569
Short Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Smal...	OMIM:269880
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Diarrhea, Abdominal distention, Vomiting, Microangiopathic hemolyt...	ORPHA:93552
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Gastroesophageal reflux, Vomiting, Failure to thrive, Esophagitis, Feeding di...	ORPHA:96182
Pseudohypoparathyroidism, Type Ia	Elevated circulating parathyroid hormone level, Hypogonadism, Obesity, Pseudohypoparathyroidism, ...	OMIM:103580
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Abdominal ...	OMIM:618852
Porphyria Due To Ala Dehydratase Deficiency	Diarrhea, Abnormal circulating porphyrin concentration, Hyponatremia, Nausea, Abnormal erythrocyt...	ORPHA:100924
Multiple Endocrine Neoplasia, Type I	Thyroid adenoma, Peptic ulcer, Pituitary adenoma, Increased circulating cortisol level, Increased...	OMIM:131100
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Vomiting, Decreased circulating carnitine concentration, Hypoglycemia, Hepatic steatosis, Hepatom...	OMIM:201450
Kaposi Sarcoma	Diarrhea, Abnormality of the spleen, Abnormality of the liver, Skin rash, Generalized lymphadenop...	ORPHA:33276
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Diarrhea, Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreonin...	ORPHA:247598
Pyridoxine-Dependent Epilepsy	Feeding difficulties, Hypoglycemia	ORPHA:3006
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cholelithiasis, Female hypogonadism, Male hypogonadism, Type I diabetes melli...	OMIM:240300
Chromosome 22Q13 Duplication Syndrome	Polyphagia, Attention deficit hyperactivity disorder, Impulsivity	OMIM:615538
Sapho Syndrome	Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsor...	ORPHA:793
Macrocephaly/Autism Syndrome	Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Hepatomega...	OMIM:605309
Common Variable Immunodeficiency	Pneumonia, Vasculitis, Bronchiectasis, Failure to thrive in infancy, Lymphopenia, Abnormality of ...	ORPHA:1572
Lipodystrophy, Familial Partial, Type 2	Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab...	OMIM:151660
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Chronic diarrhea, Hypoglycemia	ORPHA:457279
Subaortic Stenosis-Short Stature Syndrome	Obesity, Type II diabetes mellitus	ORPHA:3191
Ppoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na...	ORPHA:97278
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Muscular dystrophy, Cryptorchidism, Left ventricular hypertrophy, Micropenis, Macroglossia, Flexi...	OMIM:613156
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity	ORPHA:2429
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Helsmoortel-Van Der Aa Syndrome	Failure to thrive, Decreased response to growth hormone stimulation test, Bruxism, Obesity, Crypt...	OMIM:615873
19P13.12 Microdeletion Syndrome	Self-injurious behavior, Precocious puberty, Hypospadias, Obesity, Cryptorchidism, Hypothyroidism...	ORPHA:254346
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Glucose intolerance, High p...	OMIM:608612
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased circulating cortisol level, Primary hypercortisolism, Dorsocervical fat pad, Adrenal hy...	OMIM:615830
Senior-Loken Syndrome 9	Hypogonadism, Obesity	OMIM:616629
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity	ORPHA:85280
Primary Hepatic Neuroendocrine Carcinoma	Increased serum serotonin, Diarrhea, Weight loss, Abdominal distention, Anorexia, Hepatomegaly, R...	ORPHA:100085
Kleefstra Syndrome 1	Hypospadias, Obesity, Cryptorchidism, Aggressive behavior, Micropenis, Compulsive behaviors, Macr...	OMIM:610253
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Elevated circulating acylcarnitine concentration, Hypoglycemic seizures, Hypoglycemia, Abnormal E...	ORPHA:480864
Beta-Mercaptolactate Cysteine Disulfiduria	Obesity, Umbilical hernia	ORPHA:1035
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Hypoglycemia, Decreased ...	OMIM:607143
Granulomatosis With Polyangiitis	Nausea and vomiting, Intestinal obstruction, Arrhythmia, Weight loss, Prostatitis, Inflammatory a...	ORPHA:900
Essential Thrombocythemia	Acute leukemia, Transient ischemic attack, Leukocytosis, Splenomegaly, Abnormal platelet morpholo...	ORPHA:3318
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti...	OMIM:613157
Tatton-Brown-Rahman Syndrome	Neuroendocrine neoplasm, Umbilical hernia, Obesity, Cryptorchidism, Aggressive behavior, Proporti...	ORPHA:404443
Colchicine Poisoning	Hypotension, Cardiogenic shock, Diarrhea, Vomiting, Hypomagnesemia, Congestive heart failure, Leu...	ORPHA:31824
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Glycosuria, Hypoglycemia, Large for gestational age, Hypophosphatemia, Hepatomegaly...	OMIM:616026
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Tall stature, Obesity, Aggressive behavior, Hyperactivity, Compulsive behaviors, Motor stereotypy	OMIM:618430
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Skin rash, Weight loss, Lymphadenopathy, Anorexia, Hep...	ORPHA:391
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Obesity, Feeding difficulties, Chronic constipation	OMIM:619056
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Vomiting, Failure to thrive, Hypoglycemia, Acute hepatic failure, Hyperglycemia, Hyperammonemia	OMIM:615453
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Allergic rhinitis, Failure to thrive, Malnutrition, Exocrine pancreatic insufficiency, Splenomega...	OMIM:612714
Vipoma	Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact...	ORPHA:97282
Seckel Syndrome 10	Insulin resistance, Glycosuria, Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance	OMIM:617253
Adult Intestinal Botulism	Diarrhea	ORPHA:178487
Grfoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na...	ORPHA:97261
Angelman Syndrome Due To A Point Mutation	Obesity, Abnormal eating behavior, Inappropriate laughter, Recurrent hand flapping, Tongue thrust...	ORPHA:411511
Hepatic Veno-Occlusive Disease	Increased body weight, Abdominal pain	ORPHA:890
Waldenström Macroglobulinemia	Normocytic anemia, Vasculitis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrha...	ORPHA:33226
Glucocorticoid Resistance, Generalized	Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c...	OMIM:615962
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Recurrent aphthous stomatitis, T lymphocytopenia, Abnormal natural killer cell morphology, B lymp...	OMIM:615966
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas...	ORPHA:226313
Corticosterone Methyloxidase Type I Deficiency	Hypotension, Vomiting, Failure to thrive, Hyponatremia, Decreased circulating aldosterone level, ...	OMIM:203400
Low Phospholipid-Associated Cholelithiasis	Abdominal colic, Obesity, Overweight, Diabetes mellitus	ORPHA:69663
Rippling Muscle Disease 1	Skeletal muscle hypertrophy	OMIM:600332
Methionine Malabsorption Syndrome	Diarrhea	OMIM:250900
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Dilated cardiomyopathy, Inflammatory abnormality of ...	OMIM:610768
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Hypoglycemia, Oral-pharyngeal dysphagia, Torsad...	OMIM:616878
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Psoriasiform dermatitis, Eosin...	OMIM:617237
Baralle-Macken Syndrome	Obesity	OMIM:619255
Cntnap2-Related Developmental And Epileptic Encephalopathy	Precocious puberty, Abnormal temper tantrums, Obesity, Self-mutilation, Stereotypical hand wringi...	ORPHA:163681
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Liver Disease, Severe Congenital	Diarrhea, Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Abn...	OMIM:619991
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Ascites, Hypogonadism...	ORPHA:2905
Hyperparathyroidism, Neonatal Severe	Elevated circulating parathyroid hormone level, Failure to thrive, Splenomegaly, Hepatomegaly, Fe...	OMIM:239200
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Infection associated neutropenia, Cardiomyopathy, Hepatic steatosis,...	ORPHA:445038
Familial Pancreatic Carcinoma	Intestinal pseudo-obstruction, Exocrine pancreatic insufficiency, Nausea and vomiting, Weight los...	ORPHA:1333
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Acth Deficiency, Isolated	Cholestasis, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrena...	OMIM:201400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Secondary amenorrhea, Li...	OMIM:157640
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Maternal Uniparental Disomy Of Chromosome 4	Type I diabetes mellitus, Diarrhea, Malnutrition, Hypocholesterolemia, Abnormal erythrocyte morph...	ORPHA:96180
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Diarrhea, Xerostomia, Vomiting, Hypomagnesemia, Malabsorption, Hypocalcemia, Hypoka...	OMIM:175500
Microtriplication 11Q24.1	Bruxism, Obesity	ORPHA:289522
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Diarrhea, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Arrhythmia,...	ORPHA:352447
X-Linked Intellectual Disability, Hedera Type	Obesity, Left ventricular hypertrophy, Hypomimic face	ORPHA:93952
Bardet-Biedl Syndrome 17	Hypogonadism, Obesity, Polydipsia, Micropenis	OMIM:615994
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Tall stature, Obesity, Hyperactivity	OMIM:618089
Isolated Complex I Deficiency	Vomiting, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hepatomegaly, Increased s...	ORPHA:2609
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Elevated circulating palmitoleylcarnitine concentration, Pulmonary emboli...	ORPHA:79282
Mucopolysaccharidosis Type 2, Severe Form	Cardiomyopathy, Hepatosplenomegaly, Splenomegaly, Arrhythmia, Arthritis, Enlarged tonsils, Heart ...	ORPHA:217085
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Weight loss, Anorexia, Hepatomegaly, En...	ORPHA:781
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Hepatic fibrosis, Nodular regenerative hyperplasia of liver, Bi...	OMIM:620454
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Hypoglycemia	ORPHA:48431
3-Methylglutaconic Aciduria, Type Viib	Recurrent pneumonia, Congestive heart failure, Leukopenia, Hepatic steatosis, Thrombocytopenia, N...	OMIM:616271
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Puberty and gonadal disorders, Obesity	ORPHA:464282
1P36 Deletion Syndrome	Self-injurious behavior, Hypospadias, Annular pancreas, Failure to thrive, Camptodactyly of finge...	ORPHA:1606
Scrub Typhus	Hypotension, Nausea and vomiting, Splenomegaly, Skin rash, Infectious encephalitis, Lymphadenopat...	ORPHA:83317
Acute Radiation Syndrome	Hypotension, Inflammatory abnormality of the skin, Diarrhea, Vomiting, Lymphopenia, Interstitial ...	ORPHA:454831
Intellectual Developmental Disorder, X-Linked 12	Microphallus, Cryptorchidism, Truncal obesity, Increased body mass index, Small for gestational age	OMIM:300957
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Abnormality of the endocrine system, Obesity, Cryptorchidism, Pseudohypoparathyroidism	ORPHA:464288
Acetazolamide-Responsive Myotonia	Hypothyroidism, Dysphagia, Skeletal muscle hypertrophy	ORPHA:99736
Septo-Optic Dysplasia Spectrum	Polydipsia, Obesity, Cryptorchidism, Maternal diabetes, Anterior pituitary hypoplasia, Hypoplasia...	ORPHA:3157
Mucopolysaccharidosis Type 2, Attenuated Form	Cardiomyopathy, Hepatosplenomegaly, Splenomegaly, Arrhythmia, Arthritis, Enlarged tonsils, Heart ...	ORPHA:217093
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Muscular dystrophy, Skeletal muscle hypertrophy	OMIM:613158
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obst...	ORPHA:343
Cronkhite-Canada Syndrome	Diarrhea, Malabsorption, Splenomegaly, Hepatomegaly, Cachexia, Anorexia, Anemia, Abdominal pain	ORPHA:2930
Muckle-Wells Syndrome	Vasculitis, Recurrent aphthous stomatitis, Episcleritis, Splenomegaly, Skin rash, Hepatomegaly, A...	ORPHA:575
Tangier Disease	Splenomegaly, Hypertriglyceridemia, Elevated circulating apolipoprotein A-II concentration, Left ...	OMIM:205400
Erythrocytosis, Familial, 2	Hypotension, Elevated circulating erythropoietin concentration, Failure to thrive, Increased hema...	OMIM:263400
Hypocomplementemic Urticarial Vasculitis	Uveitis, Diarrhea, Ascites, Episcleritis, Splenomegaly, Skin rash, Nausea and vomiting, Inflammat...	ORPHA:36412
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Cardiomyopathy, Hypoketotic hy...	ORPHA:157
Farber Lipogranulomatosis	Failure to thrive, Splenomegaly, Lipogranulomatosis, Arthritis, Hepatomegaly	OMIM:228000
Amyloidosis, Hereditary Systemic 2	Cholestasis, Skin rash, Splenomegaly, Hepatomegaly, Hypertension	OMIM:105200
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Glycosuria, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia	ORPHA:2089
Hemorrhagic Fever-Renal Syndrome	Diarrhea, Hyperphosphatemia, Decreased body weight, Glomerulonephritis, Tubulointerstitial nephri...	ORPHA:340
Glucocorticoid Deficiency 1	Failure to thrive, Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulatin...	OMIM:202200
Bachmann-Bupp Syndrome	Large for gestational age, Hyperbilirubinemia, Hypoglycemia, Feeding difficulties in infancy	OMIM:619075
Joubert Syndrome 37	Micropenis, Decreased testicular size, Obesity, Cryptorchidism	OMIM:619185
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Self-injurious behavior, Premature adrenarche, Polydipsia, Central hypothyroidism, Increased circ...	ORPHA:293987
D-Glyceric Aciduria	Gastroesophageal reflux, Failure to thrive, Hypoglycemia, Bradycardia, Elevated circulating D-gly...	OMIM:220120
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Decreased circulating carnitine concentration, Vomiting, Failure to thrive, Hypoglycemia, Hyperam...	OMIM:210210
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypopro...	ORPHA:167
Meningococcal Meningitis	Hypotension, Shock, Skin rash, Infectious encephalitis, Increased circulating procalcitonin conce...	ORPHA:33475
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Small for gestational age, Gastroesophageal reflux, Failure to thrive, Hypoglyce...	OMIM:613658
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Postnatal growth retardation, Hyperinsulinemia, Hyperglycemi...	OMIM:248370
Hereditary Fructose Intolerance	Hypermagnesemia, Diarrhea, Vomiting, Reactive hypoglycemia, Hyperuricemia, Nausea, Abdominal pain...	ORPHA:469
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Feeding difficulties	OMIM:615085
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Failure to thrive, Hypoglycemia, Hypothyroidism, Neutropenia, Feeding difficulties	OMIM:618005
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Prolonged n...	ORPHA:226307
Ulnar-Mammary Syndrome	Abnormality of the uterus, Camptodactyly of finger, Breast aplasia, Obesity, Decreased fertility,...	ORPHA:3138
Leigh Syndrome	Hepatic failure, Failure to thrive, Hypoglycemia, Congestive heart failure, Hypertrophic cardiomy...	ORPHA:506
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Cardiomyopathy, Hypoketotic hy...	ORPHA:228308
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypoglycemia, Adrenal hyperplasia, Elevated circulating 21-deoxycortisol concentration, Adrenogen...	OMIM:201910
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Bloody diarrhea, Feeding difficulties	OMIM:615119
Listeriosis	Arteritis, Diarrhea, Abscess, Pustule, Jaundice, Abdominal pain, Endocarditis, Osteomyelitis, Per...	ORPHA:533
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Bloody diarrhea, Acute colitis, Elevated c...	ORPHA:90038
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Neonatal death, Thrombocytopenia, Stillbir...	ORPHA:85212
Pseudopseudohypoparathyroidism	Obesity	ORPHA:79445
Nijmegen Breakage Syndrome	Acute leukemia, Recurrent pneumonia, Autoimmune hemolytic anemia, Cachexia, Thrombocytopenia, Chr...	ORPHA:647
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Decreased body mass index, Diarrhea, Vomiting, Decreased HDL c...	ORPHA:247585
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Microcytic anemia, Recurrent otitis media, Chr...	OMIM:256040
Neuroendocrine Neoplasm Of Appendix	Increased serum serotonin, Protracted diarrhea, Nausea and vomiting, Abnormal bowel sounds, Anore...	ORPHA:100079
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Diarrhea, Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Hepatic steatosis, Cirrhosi...	OMIM:256810
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Diabetes ...	OMIM:167800
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Weight loss, Panniculitis, Hemophagocytosis	ORPHA:86884
Poikiloderma With Neutropenia	Recurrent pneumonia, Recurrent otitis media, Leukopenia, Splenomegaly, Recurrent sinusitis, Eleva...	OMIM:604173
Familial Mediterranean Fever	Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Arrhythmia, Abdomin...	ORPHA:342
Kleefstra Syndrome Due To 9Q34 Microdeletion	Failure to thrive, Obesity, Inguinal hernia, Cryptorchidism, Abnormal testis morphology, Macroglo...	ORPHA:96147
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Decreased body weight, Lipodystrophy, Truncal obesity, Diabe...	OMIM:270450
Glutaric Acidemia I	Hepatomegaly, Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia	OMIM:231670
2Q37 Microdeletion Syndrome	Umbilical hernia, Supernumerary nipple, Obesity, Congenital diaphragmatic hernia, Attention defic...	ORPHA:1001
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Hypoglycemia, Decreased body weight, Hypothyroidism, Delayed puberty, Diabetes mellitus, Small fo...	ORPHA:391408
Dpm1-Cdg	Hepatic fibrosis, Diarrhea, Failure to thrive, Hepatosplenomegaly, Hepatic steatosis, Elevated ci...	ORPHA:79322
Botulism	Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia	ORPHA:1267
Polycythemia Vera	Early satiety, Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycy...	ORPHA:729
Congenital Disorder Of Glycosylation, Type Ii	Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, Decreased body weight, Hypothyroidis...	OMIM:607906
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Atopic dermatitis, Diarrhea, Vomiting, Increased circulating ferritin concentration, Thrombocytop...	ORPHA:3240
Syndromic Diarrhea	Aortic regurgitation, Hepatic fibrosis, Intractable diarrhea, Panhypogammaglobulinemia, Bloody di...	ORPHA:84064
Kleefstra Syndrome	Self-injurious behavior, Hypospadias, Supernumerary nipple, Obesity, Cryptorchidism, Self-mutilat...	ORPHA:261494
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Umbilical hernia, Large for gestational age, Diastasis recti, Overgrowth, Omphalocele, Small for ...	ORPHA:254534
Distal 16P11.2 Microdeletion Syndrome	Obesity, Chronic constipation	ORPHA:261222
Fanconi-Bickel Syndrome	Hypouricemia, Intrahepatic cholestasis, Postprandial hyperglycemia, Glycosuria, Failure to thrive...	OMIM:227810
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, A...	ORPHA:289548
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Hypocalcemic Vitamin D-Dependent Rickets	Hypochromic anemia, Elevated circulating parathyroid hormone level, Failure to thrive, Cardiomyop...	ORPHA:289157
Medullary Thyroid Carcinoma	Diarrhea, Pheochromocytoma, Nodular goiter, Medullary thyroid carcinoma, Abnormal liver parenchym...	ORPHA:1332
Cold Agglutinin Disease	Diarrhea, Nausea and vomiting, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Cardiomyopathy, Splenomegaly, Hepatomegaly, Arrhythmia, Enlarged tonsils, Chr...	ORPHA:580
Myotonic Dystrophy 1	Cholelithiasis, Hypogonadism, Facial diplegia, Obsessive-compulsive trait, Testicular atrophy, Dy...	OMIM:160900
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Reduced haptoglobi...	OMIM:210250
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Elevated circulating luteinizing hormone level, Abnormal circulating cholesterol concentration, D...	ORPHA:168558
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit...	OMIM:235700
Spontaneous Periodic Hypothermia	Diarrhea, Nausea and vomiting	ORPHA:29822
Chylomicron Retention Disease	Diarrhea, Vomiting, Failure to thrive, Abdominal distention, Steatorrhea, Fat malabsorption	ORPHA:71
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Wilson Disease	Proximal muscle weakness in lower limbs, Failure to thrive, Abnormality of the menstrual cycle, I...	ORPHA:905
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Spontaneous...	OMIM:214500
Gitelman Syndrome	Diarrhea, Type II diabetes mellitus, Nausea and vomiting, Parathyroid adenoma, Tubulointerstitial...	ORPHA:358
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Diarrhea, Failure to thrive, Hepatocellular necrosis, Hepatosple...	OMIM:618278
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Yellow Fever	Diarrhea, Pancreatic hyperplasia, Hyperbilirubinemia, Neutrophilia, Abdominal pain, Jaundice, Sho...	ORPHA:99829
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Pica, Obesity, Aggressive behavior	OMIM:620191
Alg8-Cdg	Diarrhea, Vomiting, Failure to thrive, Ascites, Hyponatremia, Thrombocytopenia, Anemia, Small for...	ORPHA:79325
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Hypoglycemia, Cryptorchidism, Hypothyroidism, Delayed puberty, Adren...	ORPHA:95496
Dilated Cardiomyopathy With Ataxia	Dilated cardiomyopathy, Elevated circulating glutaric acid concentration, Normochromic microcytic...	ORPHA:66634
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, ...	ORPHA:100026
Zygomycosis	Diarrhea, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis, Gastroi...	ORPHA:73263
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatic failure, Vomiting, Failure to thrive, Hypoglycemia, Concentric hypertrophic cardiomyopath...	OMIM:252010
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Bone marrow hypocellularity, Nephritis, Recurrent pneumonia, Congestive heart fa...	OMIM:617303
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Acute Liver Failure	Gastrointestinal hemorrhage, Hypotension, Diarrhea, Hepatitis, Hypoglycemia, Hepatocellular necro...	ORPHA:90062
Alstrom Syndrome	Insulin-resistant diabetes mellitus, Decreased response to growth hormone stimulation test, Hyper...	OMIM:203800
Ethylmalonic Encephalopathy	Diarrhea, Failure to thrive	ORPHA:51188
Glucocorticoid Deficiency 2	Recurrent pneumonia, Hypoglycemia, Recurrent hypoglycemia, Increased circulating ACTH level, Abno...	OMIM:607398
Pyruvate Carboxylase Deficiency	Neonatal hyperbilirubinemia, Vomiting, Failure to thrive, Hypoglycemia, Hyperglycemia, Hyperammon...	ORPHA:3008
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity	OMIM:618821
Familial Hypoaldosteronism	Hypotension, Diarrhea, Failure to thrive, Adrenal insufficiency, Increased circulating renin leve...	ORPHA:427
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Hepatic necrosis, ...	OMIM:231530
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Bone Dysplasia, Lethal Holmgren Type	Diarrhea, Failure to thrive, Hypertrophic cardiomyopathy, Nausea and vomiting, Hepatomegaly, Weig...	ORPHA:1842
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili...	OMIM:616689
Immunodeficiency 87 And Autoimmunity	Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Hepatomegaly, Elevated circ...	OMIM:619573
Biotinidase Deficiency	Diarrhea, Vomiting, Splenomegaly, Skin rash, Hyperammonemia, Feeding difficulties in infancy, Seb...	OMIM:253260
Radio-Tartaglia Syndrome	Precocious puberty, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, Dysph...	OMIM:619312
Intestinal Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia	ORPHA:178481
8P23.1 Microdeletion Syndrome	Obesity, Congenital diaphragmatic hernia, Cryptorchidism, Attention deficit hyperactivity disorde...	ORPHA:251071
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Aspiration pneumonia, Arrhythmia, Tachycardia, Hyperkalemia, Dysphagia, Hypoca...	ORPHA:94093
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Diabetes mellitus, Small for gestational age, Steatorrhea	OMIM:615935
Foodborne Botulism	Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia	ORPHA:228371
Proximal 16P11.2 Microdeletion Syndrome	Failure to thrive, Obesity, Congenital diaphragmatic hernia, Attention deficit hyperactivity diso...	ORPHA:261197
Short Stature, Microcephaly, And Endocrine Dysfunction	Insulin resistance, Diabetes mellitus, Truncal obesity	OMIM:616541
Bardet-Biedl Syndrome 1	Insulin resistance, Obesity, Truncal obesity, Abdominal obesity, Diabetes mellitus	OMIM:209900
Myotonia Congenita, Autosomal Recessive	Muscle hypertrophy of the lower extremities, Dysphagia, Skeletal muscle hypertrophy	OMIM:255700
Paroxysmal Nocturnal Hemoglobinuria 2	Abdominal pain, Diarrhea	OMIM:615399
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Obesity, Abnormal eating behavior, Inappropriate laughter, Recurrent hand flapping, Tongue thrust...	ORPHA:98794
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Decreased liver function, Hyperglycemia, Feeding difficulties, Hyperglycinemia, Thr...	OMIM:620423
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho...	OMIM:619849
Marbach-Schaaf Neurodevelopmental Syndrome	Obesity, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperactivity disorder, ...	OMIM:619680
Retinitis Pigmentosa 51	Obesity	OMIM:613464
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Decreased circulating IgG level, Hepatic fibrosis, Diarrhea, Vomiting, Failure t...	OMIM:212065
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Acute hepatic failure, Malabs...	ORPHA:131
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Hyperlipidemia, Splenomegaly, Hepatic steatosi...	ORPHA:567983
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Increased total bilirubin, Autoimmune hemolytic anemia, Splenomegaly, T...	ORPHA:90037
Chromosome 16P13.3 Deletion Syndrome, Proximal	Obesity, Feeding difficulties in infancy, Failure to thrive	OMIM:610543
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, T lymphocytopenia, Recurren...	OMIM:607944
Smith-Magenis Syndrome	Self-injurious behavior, Precocious puberty, Failure to thrive in infancy, Obesity, Attention def...	ORPHA:819
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Elevated circulating thyroid-stimulating hormone concentration, Hepatitis, Panc...	OMIM:610199
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Periportal fibrosis, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Cholestasis, Hypert...	OMIM:124000
Smith-Magenis Syndrome	Head-banging, Abnormality of the thyroid gland, Onychotillomania, Self-mutilation, Increased body...	OMIM:182290
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm...	ORPHA:3464
Fetal Cytomegalovirus Syndrome	Hepatitis, Retinal hemorrhage, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice, Co...	ORPHA:294
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Weight loss, Hyperkalemia, Neonatal hypoglycemia, Abnormal circulating dehy...	ORPHA:90794
Erythermalgia, Primary	Diarrhea, Xerostomia, Constipation	OMIM:133020
Marbach-Rustad Progeroid Syndrome	Insulin resistance, Poor appetite	OMIM:619322
Cutaneous Mastocytoma	Abdominal pain, Vomiting, Diarrhea, Nausea	ORPHA:79455
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior, Cherry red spot of the macula	ORPHA:309246
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Acanthocytosis, Splenomegaly, Reduced haptoglobin level, ...	OMIM:300842
Congenital Pulmonary Lymphangiectasia	Gastroesophageal reflux, Congestive heart failure, Ascites, Tricuspid regurgitation, Splenomegaly...	ORPHA:2414
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Failure to thrive, Decreased liver function, Hepatosple...	OMIM:606003
Werner Syndrome	Insulin resistance, Slender build, Type II diabetes mellitus	ORPHA:902
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci...	OMIM:615751
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Diarrhea, Decreased circulating total IgG, Gastroesophageal re...	ORPHA:221139
Fabry Disease	Diarrhea, Vomiting, Tenesmus, Congestive heart failure, Transient ischemic attack, Angina pectori...	OMIM:301500
Radiation Proctitis	Hematochezia, Diarrhea, Tenesmus, Intestinal obstruction, Abdominal pain, Constipation, Colitis, ...	ORPHA:70475
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula...	OMIM:194380
Persistent Hyperplastic Primary Vitreous	Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Macular hypoplasia,...	ORPHA:91495
Fish-Eye Disease	Splenomegaly, Angina pectoris, Lymphadenopathy, Decreased HDL cholesterol concentration, Hepatome...	ORPHA:79292
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Decreased circulating IgA level, Large for gestational age, Lactose intolerance, Protuberant abdo...	ORPHA:457485
Rat-Bite Fever	Septic arthritis, Lymphadenitis, Diarrhea, Vomiting, Parotitis, Morbilliform rash, Abdominal asep...	ORPHA:31205
Tako-Tsubo Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Arrhythmia, ...	ORPHA:66529
Retinitis Pigmentosa	Hypogonadism, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Abnormal testis morphology	ORPHA:791
Inhalational Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Constipation	ORPHA:254504
Orthostatic Hypotension 1	Hypomagnesemia, Orthostatic hypotension, Increased blood urea nitrogen, Elevated circulating dihy...	OMIM:223360
Analbuminemia	Hypoalbuminemia, Hypotension, Increased LDL cholesterol concentration, Elevated circulating trans...	OMIM:616000
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233710
Christian Syndrome	Glucose intolerance	OMIM:309620
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Vomiting, Glycosuria, Hypoglycemia, Failure to thrive, Malnutrition,...	OMIM:229600
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, E...	OMIM:611881
Rett Syndrome	Skeletal muscle atrophy, Failure to thrive, Increased serum leptin, Bruxism, Stereotypical hand w...	ORPHA:778
White-Sutton Syndrome	Self-injurious behavior, Failure to thrive, Obesity, Congenital diaphragmatic hernia, Overfriendl...	OMIM:616364
Primary Biliary Cholangitis	Increased circulating IgA level, Cirrhosis, Abdominal distention, Hepatomegaly, Jaundice, Ascites...	ORPHA:186
Carney Triad	Gastrointestinal hemorrhage, Adrenal overactivity, Diarrhea, Adrenocortical adenoma, Ascites, Phe...	ORPHA:139411
Erythrocytosis, Familial, 1	Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob...	OMIM:133100
Rapadilino Syndrome	Diarrhea, Feeding difficulties	OMIM:266280
Bardet-Biedl Syndrome 12	Hypogonadism, Vaginal atresia, Obesity, Hydrometrocolpos	OMIM:615989
Pancreatic Agenesis 1	Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Failure to thrive	OMIM:260370
Bloom Syndrome	Insulin resistance, Gastroesophageal reflux, Recurrent gastroenteritis, Gastrostomy tube feeding ...	ORPHA:125
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp...	OMIM:233690
Pde4D Haploinsufficiency Syndrome	Elevated circulating parathyroid hormone level, Abnormal dental enamel morphology, Obesity, Crypt...	ORPHA:439822
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Glucose intolerance, Failure to thrive, Impaired glucose tolerance	OMIM:614407
Glycerol Kinase Deficiency	Vomiting, Hypoglycemia, Adrenal insufficiency, Adrenocortical hypoplasia, Chronic pancreatitis, N...	OMIM:307030
Kawasaki Disease	Hypoalbuminemia, Vasculitis, Diarrhea, Hepatitis, Conjunctivitis, Congestive heart failure, Cervi...	ORPHA:2331
Mixed Connective Tissue Disease	Mediastinal lymphadenopathy, Gastrointestinal hemorrhage, Xerostomia, Gastroesophageal reflux, Le...	ORPHA:809
Holoprosencephaly	Gastroesophageal reflux, Hypoglycemia, Failure to thrive in infancy, Abnormality of the spleen, P...	ORPHA:2162
Histiocytosis-Lymphadenopathy Plus Syndrome	Type I diabetes mellitus, Pancreatic hypoplasia, Cervical lymphadenopathy, Decreased response to ...	OMIM:602782
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentration, Dec...	OMIM:620651
Angelman Syndrome	Macroglossia, Obesity, Paroxysmal bursts of laughter, Hyperactivity	OMIM:105830
Cushing Disease	Abnormal libido, Secondary amenorrhea, Increased circulating cortisol level, Pituitary corticotro...	ORPHA:96253
Nijmegen Breakage Syndrome	Recurrent pneumonia, Diarrhea, Recurrent otitis media, Recurrent infection of the gastrointestina...	OMIM:251260
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Chronic pancreatitis, Splenomegaly, Hepatic steatosis, Elevated circulating creat...	OMIM:610717
White-Sutton Syndrome	Self-injurious behavior, Obesity, Inguinal hernia, Congenital diaphragmatic hernia, Ventral herni...	ORPHA:468678
Brody Disease	Flexion contracture, Skeletal muscle hypertrophy	OMIM:601003
Isolated Biliary Atresia	Periportal fibrosis, Small for gestational age, Failure to thrive, Decreased liver function, Chol...	ORPHA:30391
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne...	OMIM:257220
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Acne, Increased circulating ...	ORPHA:786
Yao Syndrome	Diarrhea, Abdominal pain, Weight loss, Xerostomia	OMIM:617321
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Steatorrhea, Cachexia, Malabsorption, Chronic diarrhea	ORPHA:3217
Autosomal Recessive Spastic Paraplegia Type 11	Distal amyotrophy, Lower limb muscle weakness, Generalized limb muscle atrophy, Obesity, Overweig...	ORPHA:2822
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Mucopolysaccharidosis, Type Iiib	Diarrhea, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal hypertrophy	OMIM:252920
Immunodeficiency 55	Diarrhea, Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Lymphadenopathy, Neutr...	OMIM:617827
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Glucocorticoid Deficiency 3	Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c...	OMIM:609197
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal dental enamel morphology, Obesity	ORPHA:2180
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Cholelithiasis, Hypoglycemia, Recurrent otitis media, Hepatosplenomegaly, Obe...	OMIM:301066
Thrombocytopenia With Beta-Thalassemia, X-Linked	Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp...	OMIM:314050
Porphyria, Acute Intermittent	Vomiting, Diarrhea, Paralytic ileus, Nausea, Constipation, Abdominal pain	OMIM:176000
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Or...	OMIM:304150
Carpenter Syndrome 1	Precocious puberty, Joint contracture of the hand, Umbilical hernia, Obesity, External genital hy...	OMIM:201000
Lipodystrophy, Familial Partial, Type 7	Insulin resistance, Type I diabetes mellitus, Diarrhea, Vomiting, Failure to thrive, Feeding diff...	OMIM:606721
Basilicata-Akhtar Syndrome	Precocious puberty, Gastroesophageal reflux, Chronic constipation, Neonatal hypoglycemia, Feeding...	OMIM:301032
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Macular edema, Depression, Irritability, Abnormal retinal vascular morphology, Retinal neovascula...	ORPHA:247691
Aica-Ribosiduria Due To Atic Deficiency	Hyponatremia, Hypoglycemia	OMIM:608688
Chromosome 3Q29 Duplication Syndrome	Obesity	OMIM:611936
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr...	OMIM:305400
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Beckwith-Wiedemann Syndrome	Visceromegaly, Polycythemia, Abnormal pancreas morphology, Hypoglycemia, Exocrine pancreatic insu...	ORPHA:116
Hemihyperplasia, Isolated	Skeletal muscle hypertrophy	OMIM:235000
Viss Syndrome	Atopic dermatitis, Gastroesophageal reflux, Failure to thrive, Eczematoid dermatitis, Increased c...	OMIM:619472
Silver-Russell Syndrome 1	Decreased response to growth hormone stimulation test, Small for gestational age, Fasting hypogly...	OMIM:180860
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Mitral regurgitatio...	OMIM:612541
Gm1-Gangliosidosis, Type Ii	Failure to thrive, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Dysphagia	OMIM:230600
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Decreased circulating ...	ORPHA:420741
Delayed Puberty, Self-Limited	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre...	OMIM:619613
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermatitis, Ascites...	OMIM:306400
Reynolds Syndrome	Gastrointestinal hemorrhage, Biliary cirrhosis, Palmar telangiectasia, Cholestasis, Lymphopenia, ...	OMIM:613471
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Hypothyroidism, Delayed puberty, Small for gestational age, Recurrent hypoglycemia	OMIM:616817
Hyperprolinemia Type 2	Abdominal pain, Diarrhea, Dysphagia, Feeding difficulties	ORPHA:79101
Cushing Syndrome Due To Ectopic Acth Secretion	Acne, Diarrhea, Increased circulating cortisol level, Abnormal lymph node morphology, Increased u...	ORPHA:99889
Leptospirosis	Hypotension, Uveitis, Subconjunctival hemorrhage, Hepatitis, Diarrhea, Pulmonary hemorrhage, Reti...	ORPHA:509
Non-Functioning Pituitary Adenoma	Hypopituitarism, Central adrenal insufficiency, Nausea and vomiting, Anemia of inadequate product...	ORPHA:91349
Osteopetrosis, Autosomal Recessive 1	Failure to thrive, Osteomyelitis, Pancytopenia, Splenomegaly, Hypocalcemia, Hepatomegaly, Thrombo...	OMIM:259700
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Increased body weight, Aggressive behavior, Self-injurious behavior, Micropenis	OMIM:300860
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Overgrowth, Obesity, Aggressive behavior	OMIM:620250
Meningioma	Increased circulating prolactin concentration, Lower limb muscle weakness, Neoplasm of the poster...	ORPHA:2495
Congenital Disorder Of Glycosylation, Type Id	Vomiting, Diarrhea, Failure to thrive	OMIM:601110
Pulmonary Non-Tuberculous Mycobacterial Infection	Diarrhea, Weight loss	ORPHA:411703
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Vomiting, Atrial flutter, Failure to thri...	ORPHA:137675
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Trichohepatoenteric Syndrome 1	Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, Aortic regurgitation, Small for gestational age, ...	OMIM:222470
Microscopic Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Uveitis, Diarrhea, Congestive heart failure, ...	ORPHA:727
Hyperzincemia With Functional Zinc Depletion	Vasculitis, Diarrhea, Increased serum zinc, Skin rash, Hepatomegaly	OMIM:601979
Intellectual Developmental Disorder, Autosomal Dominant 45	Slender build, Skin rash, Heart murmur, Neonatal hypoglycemia, Pulmonic stenosis	OMIM:617600
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis	ORPHA:163596
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Hyperbilirubinemia, Spleno...	OMIM:185000
Infant Botulism	Hypotension, Xerostomia, Hyponatremia, Abdominal pain, Keratoconjunctivitis sicca, Constipation, ...	ORPHA:178478
Hyperlipoproteinemia, Type Id	Failure to thrive, Increased circulating chylomicron concentration, Decreased HDL cholesterol con...	OMIM:615947
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Hypoglycemia, Failure to thrive, Hyperglycemia, Anemia, Diabetes mellitus,...	OMIM:609069
Silver-Russell Syndrome Due To A Point Mutation	Feeding difficulties in infancy, Hypothyroidism, Small for gestational age, Hypoglycemia	ORPHA:397590
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Richieri Costa-Da Silva Syndrome	Decreased muscle mass, Asymmetric limb muscle stiffness, Distal lower limb muscle weakness, Dysph...	ORPHA:3101
Visceral Myopathy 1	Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Constipation, Abd...	OMIM:155310
Cryoglobulinemic Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, ...	ORPHA:91138
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Epistaxis, Ascites, Portal hypertension, Splenomegaly,...	OMIM:619463
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Diarrhea, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyper...	OMIM:235400
Myotonia Permanens	Dysphagia, Skeletal muscle hypertrophy, Generalized muscle hypertrophy	ORPHA:99735
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Cystathioninemia, Vomiting, Failure to thrive, Bradycardia, Hypomethioninemia, Feedi...	OMIM:277400
Chronic Granulomatous Disease	Eczematoid dermatitis, Malabsorption, Splenomegaly, Otitis media, Inflammatory abnormality of the...	ORPHA:379
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Precocious puberty, Hypotension, Increased circulating prolactin concentration, Decreased respons...	ORPHA:91354
3-Methylglutaconic Aciduria, Type Viii	Failure to thrive, Neonatal death, Neutropenia, Bradycardia, Jaundice, Neonatal hypoglycemia, Dys...	OMIM:617248
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Splenomegaly, Mitral regurgitation...	OMIM:230800
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Diarrhea, Increased circulating cortisol level, Shortened QT interval,...	ORPHA:652
Chromosome 1P36 Deletion Syndrome, Distal	Hypospadias, Camptodactyly of finger, Obesity, Congenital hypothyroidism, Oppositional defiant di...	OMIM:607872
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Lassa Fever	Diarrhea, Shock, Nausea and vomiting, Abdominal pain, Conjunctivitis, Jaundice, Increased circula...	ORPHA:99824
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Stillbirth, Extramedullary hematopoiesis, Ascites, Pancytopenia, Hepatosplenomeg...	OMIM:259720
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Nodular Non-Suppurative Panniculitis	Nausea and vomiting, Splenomegaly, Inflammatory abnormality of the eye, Weight loss, Hepatomegaly...	ORPHA:33577
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Postnatal growth retardation, Hyperinsulinemia, Type II diab...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Postnatal growth retardation, Hyperinsulinemia, Type II diab...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Postnatal growth retardation, Hyperinsulinemia, Type II diab...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Postnatal growth retardation, Hyperinsulinemia, Type II diab...	ORPHA:881
Complement Component 5 Deficiency	Intractable diarrhea	OMIM:609536
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic ane...	OMIM:616084
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl...	ORPHA:846
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Asymmetric septal hypertrophy, Diarrhea, Splenomegaly	OMIM:252900
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Recurrent pneumonia, Increased circulating IgE level, Decreased ...	ORPHA:508533
Oculoskeletodental Syndrome	Splenomegaly, Hypocalcemia, Lacunar stroke, Hypothyroidism, Hepatomegaly, Hypercalcemia, Small fo...	OMIM:618440
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased serum estradiol, Decreased serum testosterone concentration, Hypogonadism, Reduced resp...	OMIM:616030
Melas	Diarrhea, Intestinal pseudo-obstruction, Type II diabetes mellitus, Hypoparathyroidism, Concentri...	ORPHA:550
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Obesity, Cryptorchidism, Adrenocorticotrop...	OMIM:615926
Nk-Cell Enteropathy	Hematochezia, Diarrhea, Gastroesophageal reflux, Constipation, Abdominal pain	ORPHA:263665
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hematochezia, Diarrhea, Failure to thrive, Hypokalemia, Anemia, Abdominal pain	OMIM:174900
Fliedner-Zweier Syndrome	Self-injurious behavior, Aggressive behavior, Obesity	OMIM:620511
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci...	OMIM:207750
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Abdominal distention, Ascites, Pancreatic lymphangiectasis, Splenomegaly, Hypoca...	OMIM:235255
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Hyperlipoproteinemia, Type I	Lactescent serum, Vomiting, Increased circulating chylomicron concentration, Hepatosplenomegaly, ...	OMIM:238600
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Failure to thrive, Cholestasis, Increased ...	OMIM:619377
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Achalasia, Fasting hypoglycemia	ORPHA:436174
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Gastroesophageal reflux, Failure to thrive in infancy, Gastropar...	ORPHA:500150
Den Hoed-De Boer-Voisin Syndrome	Obesity, Decreased body weight, Stereotypical hand wringing, Amelogenesis imperfecta, Enamel hypo...	OMIM:619229
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hypotension, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Lissencephaly, X-Linked, 2	Feeding difficulties in infancy, Diarrhea	OMIM:300215
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Scorpion Envenomation	Diarrhea, Hyperglycemia, Premature ventricular contraction, Arrhythmia, Tachycardia, Abdominal pa...	ORPHA:466677
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Growth delay, Ectopic anterior pituitary gland, Hypoglycemia, Hypopi...	ORPHA:90695
Thyrotoxic Periodic Paralysis	Graves disease, Lower limb muscle weakness, Obesity, Rhabdomyolysis, Weight loss, Increased intra...	ORPHA:79102
Zttk Syndrome	Aortic regurgitation, Failure to thrive, Absent gallbladder, Feeding difficulties in infancy, Chr...	OMIM:617140
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Mucopolysaccharidosis, Type Iiic	Diarrhea, Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Dysphagia	OMIM:252930
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Gastroesophageal reflux, Vomiting, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, ...	ORPHA:17
Multiple Myeloma	Elevated circulating creatinine concentration, Functional abnormality of the gastrointestinal tra...	ORPHA:29073
Neuroblastoma, Susceptibility To, 1	Diarrhea, Failure to thrive, Hypertension, Weight loss, Anemia, Abdominal pain, Abdominal mass	OMIM:256700
Resistance To Thyrotropin-Releasing Hormone Syndrome	Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra...	ORPHA:99832
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Recurrent pneumonia, Periodontitis, Enlarged platelet dense gr...	OMIM:608233
Congenital Analbuminemia	Obesity, Lipodystrophy, Small for gestational age	ORPHA:86816
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J...	OMIM:607625
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Impaired...	OMIM:301068
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Colitis, Recurrent aphthous stomatitis, Diarrhea, Abdominal pain	OMIM:613960
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal fold, Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system	OMIM:221900
Tropical Pancreatitis	Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p...	ORPHA:103918
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Cholestasis, Acute hepatic failure, Splenomegaly, Hepatic steatosis, H...	OMIM:618641
Cerebrotendinous Xanthomatosis	Prolonged neonatal jaundice, Cholelithiasis, Hypothyroidism, Chronic diarrhea	ORPHA:909
Cockayne Syndrome Type 1	Male hypogonadism, Diarrhea, Failure to thrive, Hepatomegaly, Increased blood urea nitrogen, Anem...	ORPHA:90321
Dysbetalipoproteinemia	Obesity, Hypothyroidism, Diabetes mellitus	ORPHA:412
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Self-injurious behavior, Small scrotum, Fixated interests, Umbilical hernia, Hair-pulling, Polyph...	OMIM:620330
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Hyperbilirubinemia, Abnormal erythro...	ORPHA:288
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Failure to thrive, Increased circulating IgE level, Leukocytosis, Pancolitis,...	OMIM:618213
Atelis Syndrome 2	Hyperinsulinemia, Gastroesophageal reflux, Elevated circulating thyroid-stimulating hormone conce...	OMIM:620185
Sotos Syndrome	Gastroesophageal reflux, Glucose intolerance, Otitis media, Increased body weight, Episodic vomit...	OMIM:117550
Combined Oxidative Phosphorylation Deficiency 58	Vomiting, Hypoglycemia, Hyperprolinemia, Hyperalaninemia, Feeding difficulties	OMIM:620451
Inflammatory Skin And Bowel Disease, Neonatal, 1	Failure to thrive, Bloody diarrhea	OMIM:614328
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Hypoglycemia	OMIM:229700
Igg4-Related Thyroid Disease	Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroid...	ORPHA:64744
Primary Sjögren Syndrome	Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe...	ORPHA:289390
Peripartum Cardiomyopathy	Abdominal pain, Obesity, Diabetes mellitus	ORPHA:563
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Diarrhea, Acute hepatic failure, Nausea and vomiting, Abdominal pain...	ORPHA:36426
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Cog8-Cdg	Failure to thrive, Hypoglycemia	ORPHA:95428
Steinert Myotonic Dystrophy	Insulin resistance, Abnormality of the tongue muscle, Cholelithiasis, Male hypogonadism, Intestin...	ORPHA:273
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Diarrhea, Intestinal pseudo-obstruction, Congestive heart failure, Recurrent...	OMIM:309900
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Hashimoto thyr...	OMIM:618223
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Feeding difficulties, Gastroesophageal reflux, Hypoglycemia, Abdominal distention	OMIM:620275
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Ascites, Hypertrophic cardiomyopathy, Left...	OMIM:261740
Satoyoshi Syndrome	Diarrhea, Malabsorption	OMIM:600705
Developmental And Epileptic Encephalopathy 50	Diarrhea, Failure to thrive, Acanthocytosis, Hyperammonemia, Schistocytosis, Anisopoikilocytosis,...	OMIM:616457
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Obesity, Limb hypertonia, Lower limb hypertonia	OMIM:617296
Mercury Poisoning	Hypotension, Interstitial pneumonitis, Hypokalemia, Episodic abdominal pain, Nausea, Episodic vom...	ORPHA:330021
1P21.3 Microdeletion Syndrome	Self-injurious behavior, Obesity, Abnormal eating behavior, Self-mutilation, Aggressive behavior	ORPHA:293948
Glycogen Storage Disease Ii	Sinus tachycardia, Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly...	OMIM:232300
Cohen Syndrome	Decreased response to growth hormone stimulation test, Childhood-onset truncal obesity, Delayed p...	OMIM:216550
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Hypospadias, Truncal obesity, Supernumerary nipple	ORPHA:3224
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Decreased serum testosterone concentration, Hypogonadism, Decreased ci...	OMIM:614897
Cardiogenic Shock	Impaired myocardial contractility, Hypotension, Right ventricular failure, Abnormal left ventricu...	ORPHA:97292
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Interstitial pneumonitis, Splenomegaly, Hepatomegaly, Vasculitis in the skin, Anemia	OMIM:620296
Simpson-Golabi-Behmel Syndrome	Polysplenia, Cardiomyopathy, Increased circulating IgE level, Bundle branch block, Hypoglycemia, ...	ORPHA:373
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulat...	OMIM:614842
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Failure to thrive, Obesity, Aggressive behavior, Abnormality of the pineal gland, Tongue thrustin...	ORPHA:369950
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal erythrocyte morphology, Gastritis, M...	ORPHA:2575
Familial Thrombocytosis	Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Acute m...	ORPHA:71493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal dysplasia, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypop...	OMIM:614643
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Keratitis, Conjunctivitis, Episcleritis, Weight loss, Granulomatosis...	OMIM:608710
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Distal Deletion 12Q	Congenital hypertrophy of left ventricle, Pituitary adenoma, Maturity-onset diabetes of the young...	ORPHA:96149
Atypical Werner Syndrome	Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperinsulinemia, Type II diabete...	ORPHA:79474
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Abnormal circulating lipid concentration, Decreased liver functi...	ORPHA:77293
Momo Syndrome	Tall stature, Obesity, Large for gestational age, Overgrowth	ORPHA:2563
Gaucher Disease	Pancytopenia, Increased circulating antibody level, Feeding difficulties in infancy, Cirrhosis, P...	ORPHA:355
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Hypertensive crisis, Diarrhea, Elevated circulating parathyroid hormo...	ORPHA:653
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Intellectual Developmental Disorder, Autosomal Dominant 29	Self-injurious behavior, Frequent temper tantrums, Obesity, Cryptorchidism, Aggressive behavior, ...	OMIM:616078
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Obesity, Gastroesophageal reflux, Encopresis	OMIM:618443
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Androgen insufficienc...	OMIM:228300
Shashi-Pena Syndrome	Feeding difficulties in infancy, Hypoglycemia	OMIM:617190
Gitelman Syndrome	Hypotension, Vomiting, Failure to thrive, Hypomagnesemia, Palpitations, Hypokalemia, Ventricular ...	OMIM:263800
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased serum testosterone concentration, Decreased circulating luteinizing hormone level, Hypo...	OMIM:614839
Prader-Willi Syndrome Due To Translocation	Abnormal temper tantrums, Head-banging, Decreased response to growth hormone stimulation test, Ob...	ORPHA:177907
Behçet Disease	Nausea and vomiting, Mitral regurgitation, Weight loss, Anorexia, Abdominal pain, Endocarditis, A...	ORPHA:117
Rabin-Pappas Syndrome	Failure to thrive in infancy, Overgrowth, Obesity, Feeding difficulties	OMIM:620155
Down Syndrome	Umbilical hernia, Obesity, Type II diabetes mellitus, Decreased fertility, Delayed puberty, Hyper...	ORPHA:870
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Abdominal ...	OMIM:277900
Specific Granule Deficiency 2	Intractable diarrhea, Failure to thrive	OMIM:617475
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Hematochezia, Intestinal bleeding, Gastrointestinal hemorrhage, Diarrhea, Cachex...	ORPHA:79076
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Elbow flexion contracture, Obesity, Hip contracture	OMIM:618493
Autoerythrocyte Sensitization Syndrome	Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormal erythrocyte morphology, Intr...	ORPHA:324636
Paroxysmal Cold Hemoglobinuria	Diarrhea, Nausea and vomiting	ORPHA:90035
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hematochezia, Secretory diarrhea, Elevated circulating thyroid-stimulating hormo...	OMIM:618183
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Neonatal hypoglycemia, Dysphagia, Thrombocytopenia	ORPHA:572798
Combined Oxidative Phosphorylation Defect Type 39	Vomiting, Feeding difficulties in infancy, Bradycardia, Nasogastric tube feeding in infancy, Neon...	ORPHA:565624
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, ...	ORPHA:90033
Shwachman-Diamond Syndrome 2	Normocytic anemia, Diarrhea, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic...	OMIM:617941
Microcephalic Primordial Dwarfism, Dauber Type	Obesity, Bilateral breast hypoplasia, Primary amenorrhea	ORPHA:319675
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Polycythemia, Micronodular cirrhosis, Increased to...	ORPHA:309854
Japanese Encephalitis	Diarrhea, Vomiting, Anorexia, Increased circulating antibody level, Hyponatremia, Infectious ence...	ORPHA:79139
Hennekam-Beemer Syndrome	Pneumonia, Mastocytosis, Hypotension, Vomiting, Failure to thrive, Arrhythmia, Telangiectasia of ...	ORPHA:2135
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia, Feeding difficulties	OMIM:616095
Bardet-Biedl Syndrome 20	Micropenis, Obesity, Male hypogonadism, Bilateral cryptorchidism	OMIM:619471
Cocaine Intoxication	Glomerulonephritis, Tubulointerstitial nephritis, Abdominal pain, Tachycardia, Diffuse alveolar h...	ORPHA:90068
Acrokeratoelastoidosis Of Costa	Granulomatosis	ORPHA:38
Pierson Syndrome	Retinal vascular tortuosity, Hypopigmentation of the fundus, Macular hypoplasia, Retinal detachme...	OMIM:609049
Plague	Inflammation of the large intestine, Diarrhea, Lymphadenitis, Arrhythmia, Acute infectious pneumo...	ORPHA:707
Tsh-Secreting Pituitary Adenoma	Increased circulating prolactin concentration, Central adrenal insufficiency, Nausea and vomiting...	ORPHA:91347
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Diarrhea, Weight loss, Small for gestational age	ORPHA:424
Diarrhea 1, Secretory Chloride, Congenital	Secretory diarrhea, Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Abdominal d...	OMIM:214700
Bannayan-Riley-Ruvalcaba Syndrome	Hypoglycemia, Thyroid carcinoma, Telangiectasia, Angina pectoris, Hashimoto thyroiditis, Cachexia...	ORPHA:109
Gaucher Disease, Type Ii	Gastroesophageal reflux, Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Protube...	OMIM:230900
Malignant Hyperthermia, Susceptibility To, 1	Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia, ...	OMIM:145600
Rothmund-Thomson Syndrome	Diarrhea, Aplastic anemia, Vomiting, Malar rash, Skin rash, Anemia, Telangiectasia of the skin, N...	ORPHA:2909
Ataxia-Oculomotor Apraxia 4	Obesity	OMIM:616267
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Exocrine pancreatic insufficiency, Colitis, Weight loss, Abdominal distention, Steatorr...	ORPHA:309031
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance	ORPHA:90153
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin resistance	ORPHA:90154
Rothmund-Thomson Syndrome Type 1	Diarrhea, Aplastic anemia, Vomiting, Nasogastric tube feeding, Hypogonadism, Functional abnormali...	ORPHA:221008
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Diarrhea, Gastroesophageal reflux, Vomiting, Elevated circulating creatinine concentration, Feedi...	OMIM:223900
Acquired Von Willebrand Syndrome	Normocytic anemia, Aortic valve stenosis, Aortic regurgitation, Hypochromic anemia, Gastrointesti...	ORPHA:99147
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia	OMIM:202150
Metaphyseal Chondrodysplasia, Schmid Type	Obesity	ORPHA:174
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased circulating luteinizing hormone level, Hypogonadotropic hypogonadism, Decreased circula...	OMIM:614837
Desbuquois Dysplasia 1	Obesity	OMIM:251450
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Vomiting, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperglycemia, Mitral reg...	OMIM:220111
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Dilated cardiomyopathy, Diarrhea, Vomiting, Pancytopenia, Skin rash, Left ventricular hypertrophy...	OMIM:618321
African Trypanosomiasis	Diarrhea, Hepatosplenomegaly, Arrhythmia, Weight loss, Hepatomegaly, Jaundice, Third degree atrio...	ORPHA:3385
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Type I diabetes mellitus, Obesity	OMIM:619269
Momo Syndrome	Overgrowth, Obesity	OMIM:157980
Young-Onset Parkinson Disease	Gastroparesis, Diarrhea, Nausea, Constipation	ORPHA:2828
Neuropathy, Hereditary Sensory And Autonomic, Type V	Diarrhea, Constipation	OMIM:608654
Alström Syndrome	Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes m...	ORPHA:64
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hypoglycemia, Decreased response to growth hormone stimulation test, Central adrenal insufficienc...	OMIM:616007
Nipah Virus Disease	Anorexia, Hypotension, Nausea and vomiting, Infectious encephalitis	ORPHA:99825
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ectopic posterior pituitary, Anterior pituitary agenesis, Absent pituitary stalk, Interrupted pit...	OMIM:620303
Ectodermal Dysplasia-Skin Fragility Syndrome	Recurrent pneumonia, Failure to thrive, Chapped lip, Recurrent skin infections, Chronic diarrhea,...	ORPHA:158668
Microvillus Inclusion Disease	Diarrhea, Abdominal distention	ORPHA:2290
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Glucose intolerance, Failure to thrive, Impaired glucose tolerance	OMIM:610131
3Q29 Microduplication Syndrome	Camptodactyly of toe, Obesity	ORPHA:251038
Wolfram Syndrome 1	Hypothyroidism, Testicular atrophy, Diabetes insipidus, Dysphagia, Diabetes mellitus	OMIM:222300
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Failure to thrive, Congestive heart failure, Splenomegaly, Mac...	OMIM:615512
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Small scrotum, Hypogonadism, Obesity, External genital hypoplasia, Cryptorchidism, Diabetes mellitus	OMIM:614231
Full Nf2-Related Schwannomatosis	Abnormal optic nerve morphology, Epiretinal membrane, Remnants of the hyaloid vascular system, Un...	ORPHA:637
Poliomyelitis	Hypovolemic shock, Hypotension, Myelitis, Vomiting, Infectious encephalitis, Paralytic ileus, Dys...	ORPHA:2912
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis	OMIM:619183
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Supernumerary nipple, Obesity, Inguinal hernia, Cryptorchidism, Micropenis, Motor stereotypy	OMIM:618653
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hypersplenism, Hepatosplenomegaly, Congenital hepatic fibrosis, Increased serum bile...	ORPHA:731
Chops Syndrome	Gastroparesis, Obesity, Gastroesophageal reflux, Constipation	OMIM:616368
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Early satiety, Recurrent pneumonia, Diarrhea, Gastroesophageal reflux, Cutaneous abscess, Increas...	OMIM:147060
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Hyperchloriduria, Increased serum prostaglandin E2, Hyperactive renin-angiot...	OMIM:601678
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Decreased circulating luteinizing hormone level, Delayed puberty, Hypogonadotropic hypogonadism, ...	OMIM:619761
Hennekam Syndrome	Erysipelas, Ascites, Lymphopenia, Malabsorption, Hypocalcemia, Splenomegaly, Lymphangioma, Lympha...	ORPHA:2136
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Obesity	OMIM:618395
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypotension, Elevated circulating creatinine concentration, Gout, Hyperuricemia, Anemia, Hyperten...	OMIM:174000
Hellp Syndrome	Hypotension, Vomiting, Microangiopathic hemolytic anemia, Hemolytic anemia, Increased body weight...	ORPHA:244242
Keppen-Lubinsky Syndrome	Failure to thrive, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial subcuta...	OMIM:614098
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Hypogonadism, Elevated circulating luteinizing hormone level, Decreased circulating follicle stim...	OMIM:229070
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Obesity, Reduced circulating growth hormone concentration, Inguinal hernia, Umbilical hernia	OMIM:620654
Kabuki Syndrome	Precocious puberty, Failure to thrive, Obesity, Congenital diaphragmatic hernia, Cryptorchidism, ...	ORPHA:2322
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Anorexia, Pancytopenia, Splenomegaly, Increased circulating ...	OMIM:181000
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Biliary cirrho...	OMIM:208540
Cohen Syndrome	Failure to thrive in infancy, Obesity, Delayed puberty, Cryptorchidism	ORPHA:193
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Neonatal...	OMIM:263200
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Self-injurious behavior, Obesity, Aggressive behavior, Attention deficit hyperactivity disorder, ...	ORPHA:466950
Kabuki Syndrome 2	Recurrent otitis media, Decreased body weight, Feeding difficulties in infancy, Neonatal hypoglyc...	OMIM:300867
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Sarcoidosis	Abnormal lymph node morphology, Arrhythmia, Weight loss, Erythema nodosum, Hepatomegaly, Tubuloin...	ORPHA:797
Familial Gestational Hyperthyroidism	Diarrhea, Weight loss	ORPHA:99819
Bardet-Biedl Syndrome	Irregular menstruation, Skeletal muscle atrophy, Aplasia/Hypoplasia of the vagina, Hydrometrocolp...	ORPHA:110
Joubert Syndrome 8	Obesity	OMIM:612291
Meconium Ileus	Chronic diarrhea, Meconium ileus	OMIM:614665
Acute Intermittent Porphyria	Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Hyponatremia, Abdominal pain, Const...	ORPHA:79276
Alexander Disease	Precocious puberty, Hypotension, Failure to thrive, Nausea and vomiting, Infectious encephalitis,...	ORPHA:58
Intellectual Developmental Disorder, Autosomal Dominant 57	Diarrhea, Failure to thrive, Constipation, Intermittent diarrhea, Feeding difficulties	OMIM:618050
Osteopetrosis, Autosomal Recessive 7	Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega...	OMIM:612301
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Anterior pituitary agenesis, Ectopic anterior pituitary gland, Hypog...	ORPHA:95494
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Type I diabetes mellitus, Abdominal distention, Hepatitis, Psoriasiform derma...	ORPHA:436252
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Aortic valve stenosis, Feeding difficulties, Small for gestational age, Hypoglycemia	OMIM:614501
Amyloidosis, Hereditary Systemic 1	Diarrhea, Episodic vomiting, Constipation	OMIM:105210
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Generalized amyotrophy, Skeletal muscle atrophy, Truncal obesity, Limb joint contracture, Flexion...	OMIM:301072
Cerebral Visual Impairment	Intracranial hemorrhage, Ischemic stroke, Neonatal hypoglycemia, Infectious encephalitis	ORPHA:447788
Cystic Fibrosis	Recurrent pneumonia, Biliary cirrhosis, Diarrhea, Failure to thrive, Meconium ileus, Exocrine pan...	OMIM:219700
Exercise-Induced Malignant Hyperthermia	Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Sinus tachycardia, Hepatic failure, Abno...	ORPHA:466650
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Decreased body weight, Torticollis, Tics, Hypospadias, Motor stereotypy, Obesity, Attention defic...	OMIM:619475
19P13.13 Microdeletion Syndrome	Vomiting, Diarrhea, Functional abnormality of the gastrointestinal tract, Abdominal pain, Feeding...	ORPHA:357001
Angioedema, Hereditary, 1	Abdominal pain, Vomiting, Diarrhea	OMIM:106100
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Cholesterol gallstones, Obesity	ORPHA:209902
Xq21 Microdeletion Syndrome	Upper limb muscle weakness, Decreased response to growth hormone stimulation test, Obesity, Abnor...	ORPHA:1435
Achondroplasia	Obesity	ORPHA:15
Congenital Erythropoietic Porphyria	Seborrhoeic blepharitis, Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concen...	ORPHA:79277
Retinal Dystrophy With Or Without Macular Staphyloma	Truncal obesity	OMIM:617547
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Pulmonary arteria...	ORPHA:77261
Gaisböck Syndrome	Obesity, Overweight, Diabetes mellitus, Increased circulating renin level	ORPHA:90041
Alternating Hemiplegia Of Childhood	Diarrhea, Vomiting, Failure to thrive, Oral-pharyngeal dysphagia, Anorexia, Gastrointestinal dysm...	ORPHA:2131
Mucopolysaccharidosis, Type Iiid	Diarrhea, Recurrent otitis media, Mitral regurgitation, Splenomegaly, Hepatomegaly, Asymmetric se...	OMIM:252940
Hydroxykynureninuria	Abnormal circulating tryptophan concentration, Hypotension, Tachycardia, Stomatitis	ORPHA:79155
Menkes Disease	Gastrointestinal hemorrhage, Hypoglycemia, Osteomyelitis, Malabsorption, Nausea and vomiting, Fee...	ORPHA:565
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Gastroesophageal reflux, Nasogastric tube feeding, Obesity, Gastrointestinal dysmotility, Constip...	ORPHA:466943
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Attention deficit hyperactivity disorder, Abnormal female external genitalia ...	ORPHA:2637
Hereditary Angioedema Type 1	Vomiting, Diarrhea, Nausea, Abdominal pain, Dysphagia	ORPHA:100050
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Gastroesophageal reflux, Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Dysphagia, Calcin...	OMIM:617913
Myhre Syndrome	Generalized muscle hypertrophy, Obesity, Cryptorchidism, Camptodactyly, Small for gestational age...	OMIM:139210
Retinitis Pigmentosa 74	Obesity	OMIM:616562
Aromatic L-Amino Acid Decarboxylase Deficiency	Feeding difficulties in infancy, Diarrhea, Gastroesophageal reflux, Constipation	OMIM:608643
Onychotrichodysplasia And Neutropenia	Chronic irritative conjunctivitis, Lymphocytosis, Chronic neutropenia, Neutropenia	OMIM:258360
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Precocious puberty, Type II diabetes mellitus, Enamel hypoplasia, Truncal obesity, Hypospadias	OMIM:210720
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Elevated circulating 17-hydroxyprogesterone concentration, Decreased circulating dehydroepiandros...	OMIM:201750
Generalized Pustular Psoriasis	Obesity, Overweight	ORPHA:247353
Prolactinoma	Secondary growth hormone deficiency, Hypotension, Male hypogonadism, Adrenocorticotropin deficien...	ORPHA:2965
Perlman Syndrome	Visceromegaly, Hypoglycemia, Ascites, Large for gestational age, Pancreatic islet-cell hyperplasia	OMIM:267000
Cystinosis, Nephropathic	Male hypogonadism, Decreased circulating carnitine concentration, Glycosuria, Failure to thrive, ...	OMIM:219800
Chromosome 5Q12 Deletion Syndrome	Hypotension, Decreased body mass index	OMIM:615668
Myhre Syndrome	Precocious puberty, Abnormal penis morphology, Hypogonadism, External genital hypoplasia, Inguina...	ORPHA:2588
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hyperactive renin-angiotensin system, Small f...	OMIM:241200
Nestor-Guillermo Progeria Syndrome	Flexion contracture, Lipoatrophy, Failure to thrive, Decreased serum leptin	OMIM:614008
Ogden Syndrome	Diarrhea, Torsade de pointes, Recurrent otitis media, Hyperbilirubinemia, Premature ventricular c...	OMIM:300855
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Decreased testicular size, Hypoplasia of the ovary, Abdominal obesity, Micropenis, Flexion contra...	OMIM:619321
Rothmund-Thomson Syndrome Type 2	Diarrhea, Aplastic anemia, Vomiting, Nasogastric tube feeding, Functional abnormality of the gast...	ORPHA:221016
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Hypoglycemia	OMIM:620224
Multiple Endocrine Neoplasia, Type Iib	Failure to thrive in infancy, Diarrhea, Disproportionate tall stature, Constipation	OMIM:162300
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Imperforate hymen, Axillary apocrine gland hypoplasia...	OMIM:181450
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Glycosuria, Hypoglycemia, Hypophosph...	ORPHA:3337
Ethylene Glycol Poisoning	Hypotension, Vomiting, Congestive heart failure, Shock, Hypocalcemia, Nausea, Gastritis, Prolonge...	ORPHA:31826
Glutaryl-Coa Dehydrogenase Deficiency	Subdural hemorrhage, Fasting hypoglycemia, Retinal hemorrhage, Dysphagia, Feeding difficulties	ORPHA:25
Oculodentodigital Dysplasia	Arrhythmia, Hypoglycemia	ORPHA:2710
Perry Syndrome	Hypotension, Weight loss	ORPHA:178509
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia, Erythroderma	ORPHA:35173
Mednik Syndrome	Hepatic fibrosis, Diarrhea, Cholestasis, Neonatal death, Cirrhosis, Increased circulating very lo...	OMIM:609313
Turcot Syndrome With Polyposis	Hematochezia, Diarrhea, Pituitary adenoma, Vomiting, Thyroid carcinoma, Nausea, Hepatoblastoma, C...	ORPHA:99818
17Q24.2 Microdeletion Syndrome	Failure to thrive in infancy, Aggressive behavior, Pineal cyst, Truncal obesity, Secondary amenor...	ORPHA:529962
Primrose Syndrome	Self-injurious behavior, Distal amyotrophy, Skeletal muscle atrophy, Bilateral cryptorchidism, Cr...	OMIM:259050
Cerebrotendinous Xanthomatosis	Cholelithiasis, Diarrhea, Abnormal circulating cholesterol concentration, Pseudobulbar paralysis,...	OMIM:213700
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Hypospadias, Keloids, Failure to thrive, Abnormal fear-induced behavior,...	ORPHA:353281
Omphalocele Syndrome, Shprintzen-Goldberg Type	Feeding difficulties in infancy, Gastroesophageal reflux, Chronic diarrhea	ORPHA:3164
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Small scrotum, Hypospadias, Hypogonadism, Decreased testicular size, Obesity, Cryptorchidism, Hyp...	OMIM:309580
Norrie Disease	Self-injurious behavior, Optic atrophy, Irritability, Abnormal vitreous humor morphology, Attenti...	ORPHA:649
Serotonin Syndrome	Nausea, Hepatic failure, Diarrhea	ORPHA:43116
Combined Oxidative Phosphorylation Deficiency 15	Obesity, Inguinal hernia	OMIM:614947
Juvenile Polyposis Syndrome	Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Brain abscess, Failure to thrive, Diarrhea,...	ORPHA:2929
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Costello Syndrome	Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Arrhythmia, Lymphangiectasis, Pulmo...	OMIM:218040
Imerslund-Grasbeck Syndrome 2	Diarrhea	OMIM:618882
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Obesity, Precocious puberty	ORPHA:369837
Distal Renal Tubular Acidosis	Vomiting, Diarrhea, Failure to thrive, Hypokalemia, Constipation, Hemolytic anemia, Poor appetite	ORPHA:18
Bartter Syndrome, Type 3	Hypotension, Hyperchloriduria, Hyperaldosteronism, Hypokalemia, Hyperactive renin-angiotensin sys...	OMIM:607364
White-Kernohan Syndrome	Attention deficit hyperactivity disorder, Obesity, Hypothyroidism, Rectovaginal fistula	OMIM:619426
Neurooculorenal Syndrome	Ectopic posterior pituitary, Central hypothyroidism, Recurrent hypoglycemia, Decreased circulatin...	OMIM:620305
Chikungunya	Epistaxis, Diarrhea, Vomiting, Cervical lymphadenopathy, Skin rash, Infectious encephalitis, Crus...	ORPHA:324625
22Q11.2 Deletion Syndrome	Cholelithiasis, Failure to thrive, Abnormality of the uterus, Umbilical hernia, Abnormal dental e...	ORPHA:567
Digeorge Syndrome	Acne, Cholelithiasis, Recurrent pneumonia, Parathyroid hypoplasia, Gastroesophageal reflux, Recur...	OMIM:188400
Witteveen-Kolk Syndrome	Microphallus, Male urethral meatus stenosis, Decreased response to growth hormone stimulation tes...	OMIM:613406
Infant Acute Respiratory Distress Syndrome	Pneumonia, Hypotension, Bradycardia, Tachycardia, Cardiac arrest	ORPHA:70587
Carpenter Syndrome 2	Umbilical hernia, Supernumerary nipple, Bilateral cryptorchidism, Obesity, Cryptorchidism, Knee f...	OMIM:614976
Phoar2-Enteropathy Syndrome	Secretory diarrhea	OMIM:614441
Blau Syndrome	Posterior uveitis, Keratitis, Xerostomia, Abnormality of the liver, Large vessel vasculitis, Sple...	ORPHA:90340
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Autosomal Dominant Hypocalcemia	Hypotension, Hyperphosphatemia, Eczematoid dermatitis, Hypomagnesemia, Congestive heart failure, ...	ORPHA:428
Reactive Arthritis	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Weight loss, Abdomi...	ORPHA:29207
Xylt1-Cdg	Truncal obesity	ORPHA:370930
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Gastroesophageal reflux, Hyperglycemia, Obesity, Gastrostomy tube feeding in infancy, Constipation	ORPHA:444077
X-Linked Intellectual Disability, Snyder Type	Abnormality of the Leydig cells, Decreased muscle mass, Cryptorchidism, Camptodactyly, Hypospadia...	ORPHA:3063
Lesch-Nyhan Syndrome	Self-injurious behavior, Dysphagia, Testicular atrophy	OMIM:300322
Monosomy 22Q13.3	Umbilical hernia, Bruxism, Obesity, Hair-pulling, Hyperactivity	ORPHA:48652
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Obesity	OMIM:250420
Rubinstein-Taybi Syndrome 1	Keloids, Failure to thrive, Bilateral cryptorchidism, Cryptorchidism, Self-mutilation, Premature ...	OMIM:180849
Proximal Renal Tubular Acidosis	Vomiting, Diarrhea, Glycosuria, Failure to thrive, Malabsorption	ORPHA:47159
Cornelia De Lange Syndrome	Failure to thrive, Abnormality of the uterus, Congenital diaphragmatic hernia, Cryptorchidism, At...	ORPHA:199
Desbuquois Dysplasia 2	Truncal obesity	OMIM:615777
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Secretory diarrhea, Abdominal distention	OMIM:270420
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Self-injurious behavior, Hypospadias, Keloids, Failure to thrive, Abnormal fear-induced behavior,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Self-injurious behavior, Hypospadias, Keloids, Failure to thrive, Abnormal fear-induced behavior,...	ORPHA:353277
Malakoplakia	Inflammatory abnormality of the skin, Diarrhea, Urinary bladder inflammation, Skin rash, Follicul...	ORPHA:556
Williams Syndrome	Precocious puberty, Cholelithiasis, Umbilical hernia, Failure to thrive in infancy, Abnormal dent...	ORPHA:904
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Intractable diarrhea	OMIM:226730
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Joubert Syndrome 39	Overweight, Joint contracture of the 5th finger	OMIM:619562
Chronic Graft Versus Host Disease	Diarrhea, Xerostomia, Gastroesophageal reflux, Urinary bladder inflammation, Fasciitis, Ascites, ...	ORPHA:99921
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu...	ORPHA:449432
Hutchinson-Gilford Progeria Syndrome	Insulin resistance, Severe failure to thrive, Weight loss	ORPHA:740
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Glucose intolerance, Glycosuria, Failure to thrive	OMIM:616539
6Q Terminal Deletion Syndrome	Obesity, Hypospadias, Failure to thrive, Phimosis	ORPHA:75857
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cardiomyopathy, Adrenocortical cytomegaly, Cardiomegaly, Adrenocortical c...	OMIM:130650
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de...	OMIM:612422
Leukocyte Adhesion Deficiency	Intrauterine growth retardation, Peritonitis, Perianal abscess, Hyperinsulinemic hypoglycemia, Sh...	ORPHA:2968
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Secretory diarrhea	OMIM:167100
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Hematemesis, Melena, Bloody diarrhea	ORPHA:464321
Inhalational Anthrax	Hypotension, Vomiting, Internal hemorrhage	ORPHA:247257
Autosomal Dominant Progressive External Ophthalmoplegia	Failure to thrive, Goiter, Glucose intolerance, Hypothyroidism, Hyperthyroidism, Diabetes mellitus	ORPHA:254892
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Inflammatory abnormality of the skin, Keratitis, Diarrhea, Xerostomia, Oral-pharyngeal...	ORPHA:95455
Alg9-Cdg	Periportal fibrosis, Diarrhea, Vomiting, Gastroesophageal reflux, Tricuspid regurgitation, Hepati...	ORPHA:79328
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Exocrine pancreatic insufficienc...	ORPHA:2255
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Glycosuria, Glucose intolerance, Diabetes mellitus, Impaire...	OMIM:137920
Holoprosencephaly 2	Cyclopia, Iris coloboma, Chorioretinal coloboma, Remnants of the hyaloid vascular system	OMIM:157170
Neuroocular Syndrome 1	Hypoplasia of the fovea, Attention deficit hyperactivity disorder, Remnants of the hyaloid vascul...	OMIM:619539
Williams-Beuren Syndrome	Umbilical hernia, Failure to thrive in infancy, Obesity, Early onset of sexual maturation, Inguin...	OMIM:194050
Sotos Syndrome	Gastroesophageal reflux, Acute lymphoblastic leukemia, Hypothyroidism, Constipation, Prolonged ne...	ORPHA:821
Microphthalmia, Syndromic 2	Iris coloboma, Retinal detachment, Remnants of the hyaloid vascular system	OMIM:300166
Aspartylglucosaminuria	Diarrhea, Mitral regurgitation, Neutropenia, Hepatomegaly, Vacuolated lymphocytes, Acne	OMIM:208400
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Obesity, Gastroesophageal reflux, Failure to thrive, Feeding difficulties	OMIM:617157
Pmm2-Cdg	Insulin resistance, Hepatic fibrosis, Elevated circulating thyroid-stimulating hormone concentrat...	ORPHA:79318
Fragile X-Associated Tremor/Ataxia Syndrome	Hypotension, Hypothyroidism, Dysphagia, Hypertension, Bowel incontinence	ORPHA:93256
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Slender build, Large for gestational age, Neonatal hypoglycemia	ORPHA:457359
Peutz-Jeghers Syndrome	Abdominal pain, Intestinal bleeding, Bloody diarrhea	OMIM:175200
Mucopolysaccharidosis Type 3	Malabsorption, Constipation, Protuberant abdomen, Intermittent diarrhea, Dysphagia	ORPHA:581
Chronic Thromboembolic Pulmonary Hypertension	Obesity, Inflammation of the large intestine	ORPHA:70591
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Failure to thrive, Truncal obesity, Camptodactyly, Motor stereotypy	OMIM:612474
Aniridia 1	Increased proinsulin:insulin ratio, Glucose intolerance	OMIM:106210
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Pallister-Killian Syndrome	Small scrotum, Camptodactyly of 2nd-5th fingers, Umbilical hernia, Supernumerary nipple, Obesity,...	OMIM:601803
Nmda Receptor Encephalitis	Neoplasm of the thymus, Vomiting, Diarrhea, Orthostatic hypotension	ORPHA:217253
Renal Tubular Dysgenesis	Hypotension	OMIM:267430
Neonatal Inflammatory Skin And Bowel Disease	Bloody diarrhea, Recurrent gastroenteritis	ORPHA:294023
Holoprosencephaly 1	Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia	OMIM:236100
Mandibuloacral Dysplasia Progeroid Syndrome	Glucose intolerance	OMIM:619127

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pcsk1

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 Pcsk1.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Prohormone convertase 1/3 deficiency causes obesity due to impaired proinsulin processing.	Nature communications (August 2022)	Pcsk1^{tm1a(EUCOMM)Wtsi}	PMC9376086
Pancreatic α Cell-Derived Glucagon-Related Peptides Are Required for β Cell Adaptation and Glucose Homeostasis.	Cell reports (March 2017)	Pcsk1^{tm1c(EUCOMM)Wtsi} Pcsk1^{tm1a(EUCOMM)Wtsi}	28355570

Order Mouse and ES Cells

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
Pcsk1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Pcsk1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Pcsk1^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Pcsk1^{tm44480(L1L2_st0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pcsk1 MGI:97511

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

MicroCT E18.5

Human diseases caused by Pcsk1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data