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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, PC1, Nec1, 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
abnormal vitreous body morphology	Pcsk1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	5.31×10^-07
abnormal freezing behavior	Pcsk1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	5.39×10^-05
abnormal retina vasculature morphology	Pcsk1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	6.00×10^-05
abnormal retina blood vessel morphology	Pcsk1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	6.05×10^-05
decreased locomotor activity	Pcsk1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	6.85×10^-18
preweaning lethality, incomplete penetrance	Pcsk1^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	0.00
persistence of hyaloid vascular system	Pcsk1^{tm1b(EUCOMM)Wtsi}	HET	Early adult	1.58×10^-07

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

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 (1692 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		Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71528
Proprotein Convertase 1/3 Deficiency		Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	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	Overweight, Obesity, Maturity-onset diabetes of the young	OMIM:613375
Type 2 Diabetes Mellitus	Increased waist to hip ratio, Insulin resistance, 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, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:140941
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity	OMIM:614662
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decrea...	OMIM:614962
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus	OMIM:600089
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Trehalase Deficiency	Diarrhea, Abdominal pain	OMIM:612119
Obesity Due To Melanocortin 4 Receptor Deficiency	Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child...	ORPHA:71529
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo...	OMIM:601820
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71526
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Obesity, Tall stature	OMIM:618406
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
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin...	OMIM:300400
Obesity	Increased waist to hip ratio, Obesity	OMIM:601665
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu...	OMIM:615285
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Obesity	OMIM:608320
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus	OMIM:612227
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Obesity And Hypopigmentation	Overgrowth, Hyperinsulinemia, Polyphagia, Obesity	OMIM:620195
Bardet-Biedl Syndrome 22	Hypogonadism, Polyphagia, Obesity, Large for gestational age	OMIM:617119
Immunodeficiency 15B	Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Chronic ...	OMIM:615592
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T...	OMIM:619824
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Feeding difficulties in infancy, Diarrhea, Hyperinsulinemia, Vomiting, Failure to t...	OMIM:606528
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Chro...	OMIM:619858
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Chronic diarrhea, Lymphadenopathy, T lymphocytopenia, Colitis,...	OMIM:619164
Lactose Intolerance, Adult Type	Flatulence, Diarrhea, Abdominal pain	OMIM:223100
Bardet-Biedl Syndrome 11	Hypogonadism, Obesity	OMIM:615988
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal...	OMIM:619755
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Immunodeficiency 19	Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure ...	OMIM:615617
Immunodeficiency 104	Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph...	OMIM:608971
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperinsulinemia, Polyphagia, Obesity, Aggressive behavior	ORPHA:329249
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, De...	ORPHA:169154
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Failure to thrive, Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immun...	ORPHA:98813
Immunodeficiency 46	Chronic oral candidiasis, Intermittent thrombocytopenia, Chronic diarrhea, Decreased circulating ...	OMIM:616740
Immunodeficiency 85 And Autoimmunity	Tube feeding, Lymphopenia, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthritis...	OMIM:619510
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Recurrent pneumonia, Chronic diarrhea, Decreased circulating total Ig...	OMIM:619281
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	T lymphocytopenia, Hypothyroidism, Hemolytic anemia, Psoriasiform dermatitis, Decreased proportio...	OMIM:606367
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Adenocarcinoma Of The Esophagus	Nausea and vomiting, Feeding difficulties in infancy, Gastroesophageal reflux, Obesity	ORPHA:99976
Abdominal Obesity-Metabolic Syndrome 1	Abdominal obesity	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Abdominal obesity	OMIM:605572
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Failure to thrive in infancy, Skin rash, Elevated circulating C-reactive protein co...	OMIM:617099
Short Stature Due To Ghsr Deficiency	Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Abdominal...	ORPHA:314811
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, La...	ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:606762
Adiposis Dolorosa	Abdominal distention, Constipation, Obesity	OMIM:103200
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ...	OMIM:304790
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ...	OMIM:614699
Histiocytosis, Familial Lipochrome	Increased alpha-globulin, Increased circulating antibody level, Histiocytosis	OMIM:235900
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
Pituitary Hormone Deficiency, Combined, 4	Pituitary dwarfism, Short stature, Hypoglycemia, Severe postnatal growth retardation, Adrenal ins...	OMIM:262700
Immunodeficiency 48	Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Eczematoid derm...	OMIM:269840
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Diarrhea 13	Recurrent hypoglycemia, Failure to thrive, Secretory diarrhea, Vomiting	OMIM:620357
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu...	OMIM:618394
Prader-Willi Syndrome Due To Imprinting Mutation	External genital hypoplasia, Polyphagia, Obesity, Hypogonadotropic hypogonadism	ORPHA:177910
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H...	ORPHA:293964
Syndromic X-Linked Intellectual Disability 7	Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis	ORPHA:85274
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Reduced systolic function, Microcytic anemia, Chronic...	OMIM:618805
Secretory Component Deficiency	Intermittent diarrhea	OMIM:269650
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Bronchiectasis, Chronic lymphatic ...	OMIM:616005
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Br...	OMIM:617638
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin...	ORPHA:47
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Type II diabetes mellitus, Obesity	OMIM:615703
Glucose/Galactose Malabsorption	Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds, Glycosuria, Failure to thrive, ...	OMIM:606824
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, Ab...	ORPHA:398063
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Hypoplasia of penis, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes, Hernia of the abd...	ORPHA:3055
Multiple Symmetric Lipomatosis	Insulin resistance	ORPHA:2398
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Pulmonary insufficiency, Absence of...	ORPHA:277
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin...	ORPHA:276608
Body Mass Index Quantitative Trait Locus 19	Hyperinsulinemia, Polyphagia, Obesity, Increased serum leptin	OMIM:617885
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior	ORPHA:356996
Hyperinsulinemic Hypoglycemia, Familial, 8	Short stature, Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hype...	OMIM:620211
Angioedema, Hereditary, 8	Diarrhea, Episodic vomiting, Abdominal pain	OMIM:619367
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Polyphagia, Obesity, Attention deficit hyperactivity disorder	ORPHA:369873
Inflammatory Bowel Disease 11	Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine	OMIM:191390
Trehalase Deficiency	Abdominal distention, Diarrhea, Vomiting, Abdominal pain	ORPHA:103909
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Diarrhea 4, Malabsorptive, Congenital	Diarrhea, Failure to thrive, Vomiting	OMIM:610370
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepat...	OMIM:209950
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Obesity	ORPHA:1078
Diarrhea 9	Diarrhea, Failure to thrive	OMIM:618168
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis...	OMIM:618963
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati...	ORPHA:79084
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,...	ORPHA:276580
Primary Intestinal Lymphangiectasia	Lymphopenia, Peritoneal effusion, Abdominal pain, Chronic diarrhea, Functional abnormality of the...	ORPHA:90362
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo...	ORPHA:911
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thrombocytopenia, Chronic diarrhea,...	OMIM:102700
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes me...	ORPHA:276575
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Hepatic failure, Elevat...	OMIM:617872
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Cryptorchidism, Obesity	OMIM:309585
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilia, Keratitis, Increased circulating IgE level, Chronic diarrhea, Bronchiectasi...	OMIM:618523
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Abdominal pain, Recurrent pancreatitis, Type II diabetes melli...	OMIM:619290
14Q11.2 Microduplication Syndrome	Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism	ORPHA:261229
Bardet-Biedl Syndrome 5	Micropenis, Hypogonadism, Obesity, External genital hypoplasia	OMIM:615983
Bardet-Biedl Syndrome 14	Obesity	OMIM:615991
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, ...	OMIM:242700
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr...	OMIM:619652
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Eczema, Abdominal pain, Splenom...	OMIM:615895
Omenn Syndrome	Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Chronic dia...	ORPHA:39041
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Cryptorchidism, Flexion contracture, Obesity, Hypogona...	OMIM:615547
Mirage Syndrome	Hyponatremia, Hypergonadotropic hypogonadism, Hypoglycemia, Adrenal hypoplasia, Thrombocytopenia,...	OMIM:617053
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa...	OMIM:615513
Bardet-Biedl Syndrome 13	Obesity	OMIM:615990
Intellectual Developmental Disorder, Autosomal Dominant 39	Obesity, Polyphagia, Self-mutilation, Aggressive behavior	OMIM:616521
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizure...	ORPHA:276556
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Isolated Growth Hormone Deficiency, Type Ia	Decreased serum insulin-like growth factor 1, Severe short stature, Hypoglycemia, Growth delay, P...	OMIM:262400
Bardet-Biedl Syndrome 10	Hypogonadism, Obesity	OMIM:615987
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,...	OMIM:619924
Short Stature Due To Partial Ghr Deficiency	Decreased serum insulin-like growth factor 1, Short stature, Hypoglycemia, Growth delay, Delayed ...	ORPHA:314802
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Feeding difficulties, Decreased...	OMIM:620045
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo...	ORPHA:331235
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia	OMIM:307500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Diarrhea, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunct...	OMIM:601457
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Intermittent diarrhea, Obesity, Feeding difficulties	OMIM:620270
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d...	OMIM:619398
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	ORPHA:35078
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Gastrostomy tube f...	OMIM:613385
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infection...	OMIM:300635
Hypothyroidism, Central, With Testicular Enlargement	Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra...	OMIM:300888
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas...	ORPHA:435651
Ataxia-Telangiectasia	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Sinusitis, Diabetes mellitus, Fe...	OMIM:208900
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co...	ORPHA:160148
Intellectual Developmental Disorder, X-Linked 97	Obesity	OMIM:300803
Glycogen Storage Disease Vi	Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, H...	OMIM:232700
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Xq27.3Q28 Duplication Syndrome	Cryptorchidism, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicular size	ORPHA:261483
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c...	ORPHA:231736
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Proximal muscle weakness in upper limbs, Lipodystro...	ORPHA:435660
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Chronic diarrhea, Decreased proportion of class-switched memory B cells,...	OMIM:617765
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Diarrhea, Hyperuricemia, Increased hepatic glycogen con...	OMIM:261750
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Sple...	OMIM:603552
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Splenomegaly, Leukocyto...	OMIM:260920
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Diarrhea, Weight loss, Decreased circulating antibody leve...	ORPHA:33355
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:98793
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv...	OMIM:308240
Summitt Syndrome	Obesity	OMIM:272350
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:98754
Congenital Disorder Of Glycosylation, Type Iij	Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficulties, Cirrhosis, Hepatic failure, F...	OMIM:613489
Sim1-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche, Micropenis...	ORPHA:398079
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Diarrhea, Vomiting	OMIM:605911
Galactokinase Deficiency	Hepatomegaly, Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsul...	ORPHA:79237
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity, Reduced circulating prolactin concentration	OMIM:264120
Narcolepsy Type 1	Obesity	ORPHA:2073
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:177904
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Bardet-Biedl Syndrome 9	Irregular menstruation, Obesity, Truncal obesity, Polydipsia, Polyphagia	OMIM:615986
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:177901
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Polyphagia, Inappropriate laughter, Obesity	ORPHA:411515
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c...	OMIM:613501
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Feeding difficulties in infancy, Failure to thrive, Hypoglycemia, Anemia	OMIM:610090
Combined Malonic And Methylmalonic Aciduria	Diarrhea, Failure to thrive, Vomiting	OMIM:614265
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh...	OMIM:615607
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b...	OMIM:613670
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly, Chr...	OMIM:614576
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o...	OMIM:266600
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash, Histiocytosis	ORPHA:157997
Huntington Disease	Abnormal libido, Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol u...	ORPHA:399
Bardet-Biedl Syndrome 18	Obesity	OMIM:615995
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Immunodeficiency 40	Hepatomegaly, Recurrent pneumonia, Chronic diarrhea, Eosinophilic granuloma, T lymphocytopenia, I...	OMIM:616433
Neonatal Hemochromatosis	Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Increase...	ORPHA:446
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Decreased circu...	OMIM:613101
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Weight loss, ...	ORPHA:507
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy...	OMIM:619178
Bardet-Biedl Syndrome 2	Diabetes mellitus, Hypogonadism, Obesity	OMIM:615981
Immunodeficiency 57 With Autoinflammation	Failure to thrive, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased ci...	OMIM:618108
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Lymphocytic interstitial pneumonia,...	OMIM:618495
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachycardia, Hypoglycemia, Elevated c...	OMIM:614921
Trichohepatoenteric Syndrome 2	Hepatomegaly, Small for gestational age, Decreased serum iron, Diarrhea, Chronic diarrhea, Chroni...	OMIM:614602
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Bangstad Syndrome	Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa...	ORPHA:1227
Hernández-Aguirre Negrete Syndrome	Obesity, Delayed puberty	ORPHA:2139
Cortisone Reductase Deficiency 1	Precocious puberty, Infertility, Obesity, Oligomenorrhea	OMIM:604931
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Facial palsy, Decreased response to growth hormone stimulation te...	OMIM:606407
Agammaglobulinemia, X-Linked	T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ...	OMIM:300755
Mehmo Syndrome	Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Agi...	ORPHA:85282
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Chronic oral candidiasis, Eosinophilia, Pneumonia, Anorexia, Diarrhea, Recurrent pne...	ORPHA:169160
Propionic Acidemia	Hepatomegaly, Pancytopenia, Hypoglycemia, Eczema, Poor appetite, Feeding difficulties in infancy,...	OMIM:606054
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Short stature, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsuli...	OMIM:262190
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Flexion contracture, Increased body weight, Clitoral ...	ORPHA:398069
6Q16 Microdeletion Syndrome	Polyphagia, Obesity, Abnormal temper tantrums	ORPHA:171829
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia in presence of ...	OMIM:607594
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Mitochondrial Complex Iv Deficiency, Nuclear Type 14	Obesity	OMIM:619058
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Hypoglycemia, Feeding difficulties in infancy, Congestive heart failure, Decreased ...	OMIM:619048
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab...	OMIM:610628
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Enterocolitis, Abdominal pain	OMIM:260005
Immunoglobulin Kappa Light Chain Deficiency	Diarrhea, Chronic diarrhea, Abnormal immunoglobulin level	OMIM:614102
Papular Xanthoma	Hyperlipidemia, Histiocytosis	ORPHA:158008
Rabies	Nausea and vomiting, Diarrhea, Anorexia	ORPHA:770
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Hyperammonemia, Leukop...	OMIM:251000
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity	ORPHA:217377
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea	OMIM:616868
Autism, Susceptibility To, X-Linked 6	Obesity	OMIM:300872
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome	Obesity	ORPHA:436141
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Skin rash, Elevated circulating C-reactive protein concentration...	OMIM:616050
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Enteric Anendocrinosis	Type I diabetes mellitus, Diarrhea, Vomiting	ORPHA:83620
Shigellosis	Anorexia, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemi...	ORPHA:810
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet...	ORPHA:79644
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Secondary amenorrhea, ...	ORPHA:3085
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Abnormality...	ORPHA:2552
Macrophage Activation Syndrome	Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Increased ...	ORPHA:158061
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Hypoglycemia, Abdominal distention, Hyperlipidemia, Increased hepatic glycogen cont...	ORPHA:369
Mitochondrial Dna Depletion Syndrome 11	Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Dilated cardi...	OMIM:615084
Blue Diaper Syndrome	Diarrhea, Recurrent hypoglycemia, Increased body weight, Increased proinsulin:insulin ratio	ORPHA:94086
Narcolepsy 7	Type II diabetes mellitus, Obesity	OMIM:614250
Secondary Intestinal Lymphangiectasia	Lymphopenia, Decreased circulating IgG1 level, Abdominal colic, Intestinal obstruction, Right ven...	ORPHA:90363
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Decreased circulating antibody level, Agam...	OMIM:601495
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Decrease...	ORPHA:33543
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, Failure to thrive, Hypoglycemia	ORPHA:67046
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Cardiomyopathy	OMIM:609016
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen...	ORPHA:79124
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Adre...	OMIM:619386
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Decreased circulating cortisol level, Anorexia, Hashimoto thyroiditis, Hyponat...	ORPHA:199299
Diarrhea 6	Chronic diarrhea, Crohn's disease, Abdominal pain	OMIM:614616
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Polyphagia, Decreased body weight	OMIM:620085
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormal macrophage morphology, Abnormality of neutrophils	ORPHA:2690
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly	OMIM:619175
Immunodeficiency By Defective Expression Of Mhc Class Ii	Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune...	ORPHA:572
Histiocytosis, Progressive Mucinous	Mucinous histiocytosis	OMIM:142630
Immunodeficiency 56	Recurrent infection of the gastrointestinal tract, Cholangitis, Hepatic failure, Recurrent pneumo...	OMIM:615207
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista...	ORPHA:280356
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating...	ORPHA:453533
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Tall stature, Diabetes mellitus, Lipodystrophy, Reduced intr...	OMIM:608594
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Feeding difficulties in infancy, Splenomegaly, Hyper...	OMIM:619046
Hyperinsulinism-Hyperammonemia Syndrome	Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia	ORPHA:35878
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Diabetes mellitus, Abdominal pain, Increased glucagon level, Stomatitis...	ORPHA:438274
Bardet-Biedl Syndrome 4	Cryptorchidism, Hypogonadism, Obesity, External genital hypoplasia	OMIM:615982
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Complement Component 4B Deficiency	Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o...	OMIM:614379
Type 1 Diabetes Mellitus	Polydipsia, Diabetes mellitus, Polyphagia	OMIM:222100
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo...	ORPHA:913
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Weight loss, ...	ORPHA:2126
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Increased circulating IgG level,...	ORPHA:2298
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat...	OMIM:274300
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus	OMIM:610947
Propionic Acidemia	Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Constipation, Arrhythmia	ORPHA:35
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Anorexia, Reticulocytopenia, Vomiting, Neutropenia, Hypoplastic anemia, Hep...	OMIM:557000
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Abnormality of the thyroid gland, Obesity,...	ORPHA:2234
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty	ORPHA:141333
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Abdomina...	OMIM:142680
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Diabetes mellitus, Abdominal obesity	OMIM:615980
Solitary Rectal Ulcer Syndrome	Abdominal pain, Episodic abdominal pain, Hematochezia, Chronic constipation, Tenesmus, Bloody dia...	ORPHA:209964
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:300942
Enterokinase Deficiency	Diarrhea, Failure to thrive	OMIM:226200
Luscan-Lumish Syndrome	Aggressive behavior, Irregular menstruation, Obesity, Polycystic ovaries, Overgrowth, Polyphagia	OMIM:616831
2Q23.1 Microdeletion Syndrome	Hyperactivity, Hypoplasia of penis, Abnormal repetitive mannerisms, Cryptorchidism, Self-injuriou...	ORPHA:228402
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Elevated circulating C-reactive protein concentration, Abdominal pain, Erythema nodosu...	OMIM:611762
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Tall stature, Lipodystrophy, Reduced intraabdominal adipose ...	OMIM:269700
Hirschsprung Disease	Nausea and vomiting, Intestinal obstruction, Failure to thrive in infancy, Abdominal pain, Diarrh...	ORPHA:388
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Wolfram-Like Syndrome	Diabetes mellitus, Glucose intolerance, Primary gonadal insufficiency, Delayed puberty, Male hypo...	ORPHA:411590
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Abnormal cardiac ventricular function, Elevated circulating branched chain amino ac...	ORPHA:2394
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath...	OMIM:301078
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
X-Linked Acrogigantism	Increased body mass index, Decreased thyroid-stimulating hormone level, Enlarged pituitary gland,...	ORPHA:300373
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Calf muscle hypertrophy, Dysphagia, Limb muscle weakness, Testicular atrophy	OMIM:313200
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hypoglycemia, Abdominal pain, Diarrhea, Hyperammonemia, Vomiting, Pancreatitis	OMIM:620137
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Neutrophilia, Membranoproliferative glomerulonephritis, Macu...	OMIM:619644
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent...	OMIM:262600
Benign Recurrent Intrahepatic Cholestasis	Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic diarrhea, Weight loss, Acholic s...	ORPHA:65682
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati...	ORPHA:276
Wiskott-Aldrich Syndrome	Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Absent micr...	OMIM:301000
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m...	OMIM:616329
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, In...	ORPHA:3260
Pyridoxal Phosphate-Responsive Seizures	Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat...	ORPHA:79096
3-Methylglutaconic Aciduria Type 4	Hypoglycemia, Cardiomyopathy, Decreased liver function, Failure to thrive, Thrombocytopenia	ORPHA:67048
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Failure to thrive, Small for gestational age	OMIM:613217
Retinitis Pigmentosa	Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ...	ORPHA:791
Erythroderma Desquamativum	Diarrhea, Failure to thrive	ORPHA:314
Diarrhea 7, Protein-Losing Enteropathy Type	Abdominal colic, Failure to thrive, Vomiting, Diarrhea	OMIM:615863
Simpson-Golabi-Behmel Syndrome, Type 2	Inguinal hernia, Obesity	OMIM:300209
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Brunner Syndrome	Diarrhea	OMIM:300615
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Decreased fertility, Abnormal testis morphology, Hypogonadism, Obesity	ORPHA:2233
Chromosome Xq27.3-Q28 Duplication Syndrome	Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob...	OMIM:300869
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hypoglycemia, Hyperammonemia	ORPHA:664
Sucrase-Isomaltase Deficiency, Congenital	Diarrhea, Abdominal pain	OMIM:222900
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Short stature, Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia	OMIM:616033
Bardet-Biedl Syndrome 16	Hypogonadism, Obesity, External genital hypoplasia	OMIM:615993
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Congenital hypothyroidism	ORPHA:88643
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne...	ORPHA:699
Kennedy Disease	Skeletal muscle atrophy, Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Te...	ORPHA:481
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618839
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp...	OMIM:618986
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Feeding difficulties, Decreased liver funct...	OMIM:246900
Perlman Syndrome	Hepatomegaly, High, narrow palate, Cryptorchidism, Abnormal pancreas morphology, Hyperinsulinemia	ORPHA:2849
Aa Amyloidosis	Hepatomegaly, Abdominal pain, Chronic diarrhea, Malnutrition, Cholestasis, Vomiting, Adrenal insu...	ORPHA:85445
Agammaglobulinemia 6, Autosomal Recessive	Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat...	OMIM:612692
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Feeding difficulties, Car...	ORPHA:26792
Cernunnos-Xlf Deficiency	Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym...	ORPHA:169079
Donohue Syndrome	Postnatal growth retardation, Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, He...	OMIM:246200
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia, Abdominal pain	OMIM:118830
Prader-Willi Syndrome	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:739
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Increased body weight, Hepatic fibrosis, Vomi...	ORPHA:264580
Wild Type Attr Amyloidosis	Hepatomegaly, Abnormal EKG, Bowel incontinence, Myocardial infarction, Congestive heart failure, ...	ORPHA:330001
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro...	OMIM:278000
Prader-Willi Syndrome	Decreased muscle mass, Small scrotum, Decreased response to growth hormone stimulation test, Exte...	OMIM:176270
Alg1-Cdg	Cardiomyopathy, Chronic diarrhea, Hypoalbuminemia, Decreased liver function	ORPHA:79327
Mehmo Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Aggressive beha...	OMIM:300148
Glycogen Storage Disease Iii	Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperlipidemia, C...	OMIM:232400
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Small for gestational age, Failure to thrive in infancy, Eczema, Decreased proportion of CD8-posi...	OMIM:617241
Lipodystrophy, Familial Partial, Type 4	Insulin-resistant diabetes mellitus, Insulin resistance	OMIM:613877
Frontotemporal Dementia	Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leukocytosis, Chronic diarrhe...	OMIM:620233
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l...	OMIM:618806
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Ab...	OMIM:620282
11P15.4 Microduplication Syndrome	Obesity, Aggressive behavior	ORPHA:300305
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy, Anorexia, Weight loss	ORPHA:52416
Morm Syndrome	Truncal obesity, Hyperactivity, Micropenis, Aggressive behavior	ORPHA:75858
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Immunodeficiency 9	Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Failure to...	OMIM:612782
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Increased serum pyruvate, Small for gestational age, Hypoglycemia, Episodic vomiting, Hyperammone...	OMIM:615160
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Abnormality of th...	ORPHA:229717
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati...	ORPHA:397596
Ankylosing Vertebral Hyperostosis With Tylosis	Obesity	ORPHA:2206
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone	Intrauterine growth retardation, Severe short stature, Hypoglycemia	OMIM:223500
Temple Syndrome	Small for gestational age, Maturity-onset diabetes of the young, Overweight, Precocious puberty, ...	OMIM:616222
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Microvesicular he...	OMIM:212140
Wagro Syndrome	Decreased testicular size, Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polypha...	OMIM:612469
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Portal hyperten...	OMIM:251880
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Abdominal pain, Splenomegaly, Jaundice, Diarrhea, Hypertension, Vomiti...	OMIM:121300
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Glycosuria, Pancreatic islet-cell hyperplasia, Fas...	ORPHA:263455
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea	OMIM:184700
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Cachexia, Cardiom...	ORPHA:42
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Hypoglycemia, Vomiting, Intermittent diarrhea, Fai...	ORPHA:289504
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Allergic rhinitis, Abdominal...	ORPHA:2070
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Atrophic gastritis, Psoriasiform dermatit...	OMIM:616100
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Mucoid diarrhea, Increased circulating IgE level, Decreased prop...	OMIM:615767
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Necrotizing Enterocolitis	Hyponatremia, Shock, Small for gestational age, Abdominal distention, Leukocytosis, Peritonitis, ...	ORPHA:391673
Acute Adrenal Insufficiency	Normocytic anemia, Decreased circulating cortisol level, Anorexia, Adrenal hypoplasia, Myocardial...	ORPHA:95409
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ...	OMIM:614450
Short Stature, Dauber-Argente Type	Postnatal growth retardation, Fasting hyperinsulinemia, Short stature	OMIM:619489
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency 58	Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ...	OMIM:618131
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis...	OMIM:240500
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Increased circul...	ORPHA:100024
Diabetes Mellitus, Permanent Neonatal, 4	Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age	OMIM:618858
Cog7-Cdg	Hepatomegaly, Small for gestational age, Elevated circulating creatine kinase concentration, Jaun...	ORPHA:79333
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Truncal obesity, Childhood-onset truncal obesity	OMIM:610156
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:613313
Leukocyte Adhesion Deficiency, Type I	Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Chronic diarr...	OMIM:116920
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, B...	OMIM:226990
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Hypoglycemia, Bronchiectasis, Hyperammonemia, Dysphagia, Feeding diffi...	OMIM:618253
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Anorexia, Leukocytosis, Diarrhea, Hyperammonemia, Weight loss, Hypert...	ORPHA:134
Burkitt Lymphoma	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Abnorma...	ORPHA:543
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Feeding difficulties in infancy, Fasting hyperinsulinemia, Hepatic necrosi...	ORPHA:71212
Diarrhea 11, Malabsorptive, Congenital	Diarrhea	OMIM:618662
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati...	ORPHA:906
Intellectual Developmental Disorder, X-Linked 91	Obesity	OMIM:300577
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneu...	OMIM:150550
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea	ORPHA:103907
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Diarrhea, Insulin resistance, Hyperinsulinem...	ORPHA:230
Hemochromatosis, Neonatal	Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,...	OMIM:231100
Malonyl-Coa Decarboxylase Deficiency	Hypoglycemia, Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting	OMIM:248360
Trimethylaminuria	Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia	OMIM:602079
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Bardet-Biedl Syndrome 7	Hypogonadism, Obesity	OMIM:615984
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,...	OMIM:615122
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ...	OMIM:604367
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Protein-losing enteropathy, Hepat...	ORPHA:79319
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Vomiting, Hypergalactosemia, Failure to thrive	OMIM:230350
Cebalid Syndrome	Polyphagia, Congenital diaphragmatic hernia	OMIM:618774
Bile Acid Malabsorption, Primary, 1	Chronic diarrhea, Failure to thrive, Steatorrhea	OMIM:613291
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Weight loss	ORPHA:30925
Addison Disease	Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Anorexia, Adrenal...	ORPHA:85138
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent...	OMIM:602390
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Thrombocytopenia, Splenomegaly, Hype...	ORPHA:79312
Acquired Partial Lipodystrophy	Insulin resistance	ORPHA:79087
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age	OMIM:606176
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies	Truncal obesity	OMIM:300471
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Chronic diarrhea, Dilated cardiomyopathy, Leukopenia, Hepatic fibr...	OMIM:613989
Bardet-Biedl Syndrome 8	Hypogonadism, Hypospadias, Obesity	OMIM:615985
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Achilles tendon contrac...	ORPHA:98855
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr...	OMIM:618838
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Vomiting, Failure to thrive, ...	OMIM:614480
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration...	ORPHA:54251
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Chronic diarrhea, Periportal fibrosis, F...	OMIM:619484
Aggressive Systemic Mastocytosis	Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis...	ORPHA:98850
Middle Ear Neuroendocrine Tumor	Chronic diarrhea, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor	ORPHA:100084
Pseudohypoparathyroidism, Type Ib	Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Obesity	OMIM:603233
Congenital Myopathy 9A	Cryptorchidism, EMG: myopathic abnormalities, Obesity	OMIM:618822
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hepatic fibrosis, Vomitin...	ORPHA:14
Borjeson-Forssman-Lehmann Syndrome	Cryptorchidism, Obesity, Hypoplasia of the prostate, Delayed puberty, Micropenis	OMIM:301900
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity	ORPHA:2183
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame...	OMIM:615300
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Macroorchi...	ORPHA:3077
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Increased circu...	ORPHA:37748
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin-resistant diabetes mellitus, Insulin resistance	ORPHA:90301
Trisomy 18P	Bilateral cryptorchidism, Polyphagia, Facial palsy, Attention deficit hyperactivity disorder	ORPHA:1715
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Acquired Hypertrichosis Lanuginosa	Chronic diarrhea, Lymphadenopathy, Poor appetite, Weight loss	ORPHA:2221
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Griscelli Syndrome, Type 2	Hemophagocytosis, Hepatosplenomegaly	OMIM:607624
Cholesteryl Ester Storage Disease	Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jau...	ORPHA:75234
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Neuroendocrine Tumor Of Stomach	Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Iron deficiency anemia, Atypical ...	ORPHA:100075
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Hypoglycemia, Cardiomegaly, Hyperammonemia, Feeding difficulties, Asci...	OMIM:614702
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Uveitis, Bloody diarrh...	ORPHA:99826
Chromosome 19P13.13 Deletion Syndrome	Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Overgrowth, Vomiting	OMIM:613638
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Constipation	OMIM:615548
48,Xxyy Syndrome	Hypoplasia of penis, Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morp...	ORPHA:10
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Abdominal distention, Diarrhea, Elevated circulating creatinine concentration, Chol...	OMIM:608104
Akt2-Related Familial Partial Lipodystrophy	Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me...	ORPHA:79085
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosi...	OMIM:613027
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia	OMIM:614741
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M...	ORPHA:79456
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Hypoglycemia	OMIM:615158
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm...	ORPHA:293978
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Intellectual Developmental Disorder, Autosomal Dominant 51	Chronic diarrhea, Feeding difficulties, Chronic constipation, Recurrent otitis media, Failure to ...	OMIM:617788
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S...	OMIM:300696
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglutamatemia, Low plasma citrulline, Chronic diarrhea, Hyperammonemia, Hyperprolinemia, Anem...	OMIM:620358
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Hyperactivity, Hypospadias, Aggressive behavior, Cryptorchidism, Ma...	OMIM:300354
Bile Acid Malabsorption, Primary, 2	Chronic diarrhea, Copper accumulation in liver, Steatorrhea, Decreased circulating chenodeoxychol...	OMIM:619481
Dengue Fever	Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cerebral he...	ORPHA:99828
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Small for gestational age, Severe periodontitis, Abnormal isohemagglu...	ORPHA:99843
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A...	OMIM:619566
Bardet-Biedl Syndrome 6	Diabetes mellitus, Obesity	OMIM:605231
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Abnormal blood ion concentration, Iron deficiency anemia, Tubuloint...	ORPHA:37042
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-react...	OMIM:613011
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib...	ORPHA:52901
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism	OMIM:145750
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cryptorchidism, Hypogonadism, Obesity, External genital hypoplasia	ORPHA:363741
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Chronic mucocutaneous candidiasis, Recurrent otitis...	OMIM:618204
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa...	ORPHA:2494
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Abnormality of the endoc...	ORPHA:391487
Boutonneuse Fever	Maculopapular exanthema, Skin rash, Abdominal pain, Cervical lymphadenopathy, Diarrhea, Vasculiti...	ORPHA:83313
Graft Versus Host Disease	Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu...	ORPHA:39812
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency	Hypoglycemia	ORPHA:35701
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Obesity, Maturity-onset diabetes of the young, Feeding difficulties	ORPHA:254531
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Gastroeso...	ORPHA:443811
Spastic Paraplegia 11, Autosomal Recessive	Skeletal muscle atrophy, Thenar muscle atrophy, Obesity, Dysphagia, Lower limb muscle weakness	OMIM:604360
Ataxia-Oculomotor Apraxia Type 4	Progressive distal muscular atrophy, Distal lower limb muscle weakness, Obesity, Muscular dystrophy	ORPHA:459033
Neuroendocrine Tumor Of The Rectum	Anorexia, Lack of bowel sounds, Bloody diarrhea, Atypical pulmonary carcinoid tumor, Carcinoid tu...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Lack of bowel sounds, Bloody diarrhea, Atypical pulmonary carcinoid tumor, Carcinoid tu...	ORPHA:100082
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Hypoalbuminemia, Adrenal insufficiency, Hypogonadism, Lymphop...	OMIM:617575
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Cryptorchidi...	ORPHA:486815
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri...	OMIM:618160
Chung-Jansen Syndrome	Impulsivity, Aggressive behavior, Cryptorchidism, Obesity, Attention deficit hyperactivity disorder	OMIM:617991
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
13Q12.3 Microdeletion Syndrome	Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Camptodactyly, Failure t...	ORPHA:412035
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Diabetes mellitus	OMIM:612526
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiac arrest, V...	OMIM:212138
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recur...	OMIM:617718
Relapsing Fever	Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Abdo...	ORPHA:91547
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I...	OMIM:601859
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism, Obesity	OMIM:300238
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Achilles tendon contrac...	ORPHA:98863
Immunodeficiency 22	Failure to thrive, Pericarditis, Abscess, Thrombocytopenia, Diarrhea, Protracted diarrhea, Capill...	OMIM:615758
Congenital Muscular Dystrophy With Intellectual Disability	Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl...	ORPHA:370968
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Achilles tendon contrac...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Lipodystrophy, Achilles tendon contrac...	ORPHA:98853
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive	OMIM:612075
Isobutyryl-Coa Dehydrogenase Deficiency	Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, V...	ORPHA:79159
Placental Insufficiency	Insulin resistance, Small for gestational age	ORPHA:439167
Familial Renal Glucosuria	Hyperglycemia, Insulin resistance, Abnormal oral glucose tolerance, Glycosuria	ORPHA:69076
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic h...	ORPHA:79240
Carcinoid Syndrome	Nausea and vomiting, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventri...	ORPHA:100093
Man1B1-Cdg	Truncal obesity, Polyphagia	ORPHA:397941
Pediatric-Onset Graves Disease	Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circu...	ORPHA:525731
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent...	OMIM:616860
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Decreased serum insulin-like growth factor 1, Short stature, Celiac disease, Postnatal growth ret...	OMIM:618985
Classic Galactosemia	Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormal erythrocyte en...	ORPHA:79239
Angelman Syndrome	Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel...	ORPHA:72
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular carcinoma, Splenomegaly, Hyperlip...	OMIM:232220
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Hyperinsulinemia, Short stature	ORPHA:66518
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B ...	ORPHA:3261
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Nephritis, Eleva...	OMIM:603909
Encephalopathy, Ethylmalonic	Chronic diarrhea, Elevated circulating butyrylcarnitine concentration, Failure to thrive, Feeding...	OMIM:602473
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Ano...	OMIM:619381
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urg...	ORPHA:100080
Alpha-Heavy Chain Disease	Hepatomegaly, Dysgammaglobulinemia, Abdominal pain, Splenomegaly, Lymphadenopathy, Hypocalcemia, ...	ORPHA:100025
Fructose And Galactose Intolerance	Hypoglycemia	OMIM:229500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi...	ORPHA:331206
Laurence-Moon Syndrome	Hypoplasia of penis, Cryptorchidism, Obesity, Type II diabetes mellitus, Displacement of the uret...	ORPHA:2377
3-Methylcrotonyl-Coa Carboxylase Deficiency	Abnormal circulating leucine concentration, Failure to thrive in infancy, Hyperammonemia, Hypogly...	ORPHA:6
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Hepatomegaly, Recurrent skin infections, Splenomegaly, Decreased circulating total I...	OMIM:620210
Familial Glucocorticoid Deficiency	Decreased circulating cortisol level, Ketotic hypoglycemia, Anorexia, Hypoglycemic seizures, Vomi...	ORPHA:361
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Obesity, Attention deficit hyperactivity disorder	OMIM:618725
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Fetal ascites, Thrombocytopenia, Leukocytosis, Myocard...	ORPHA:292
Glucocorticoid Deficiency 3	Recurrent hypoglycemia	OMIM:609197
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Diarrhea, Bronchiectasis, Increased circulating IgM level, T lymphocytopeni...	OMIM:242860
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Chronic diarrhea, Hepatosplenomegaly, Anemia, Ly...	ORPHA:333
Sepsis In Premature Infants	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:90051
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Abdominal pain, Spl...	OMIM:235200
Neonatal Severe Primary Hyperparathyroidism	Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosphate regulating...	ORPHA:417
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure...	OMIM:269920
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Renal Glucosuria	Polydipsia, Polyphagia	OMIM:233100
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Diabetes mellitus, Mediastin...	ORPHA:169105
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Hypogonadism, Obesity	OMIM:601794
Wolcott-Rallison Syndrome	Hyponatremia, Hepatomegaly, Acute hepatic failure, Neonatal insulin-dependent diabetes mellitus, ...	ORPHA:1667
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi...	OMIM:271500
Whipple Disease	Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Gastrointestinal hemorrhage, Cachexia, Anorex...	ORPHA:3452
Legionnaires Disease	Hyponatremia, Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Splenomegaly, Jaundice...	ORPHA:549
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Chronic diarrhea, Steatorrhea, Feeding difficulties, Recurrent pancre...	OMIM:618268
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula...	OMIM:301074
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Premature ovarian insufficiency, Obesity, Foot dorsiflexor weakness	OMIM:618124
3-Hydroxy-3-Methylglutaric Aciduria	Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Anorexia, Reye syndrom...	ORPHA:20
Griscelli Syndrome Type 2	Nausea and vomiting, Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphade...	ORPHA:79477
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Hypothyroidis...	ORPHA:83471
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Recurrent pneumo...	OMIM:301220
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Feeding difficulties in infancy, Diarrhea, Leukopenia, Ne...	OMIM:229050
Retinal Dystrophy And Microvillus Inclusion Disease	Chronic diarrhea, Bronchiectasis	OMIM:619446
Lipodystrophy, Familial Partial, Type 5	Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Irregular menstruation, Diabe...	OMIM:615238
Staphylococcal Necrotizing Pneumonia	Shock, Neutrophilia, Diabetes mellitus, Pneumonia, Elevated circulating C-reactive protein concen...	ORPHA:36238
Chylomicron Retention Disease	Diarrhea, Malnutrition, Vomiting, Steatorrhea, Failure to thrive	OMIM:246700
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Diarrhea, Hyperam...	OMIM:255120
Gangliocytoma	Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent...	ORPHA:251937
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Splenomegaly, Defective production of NFKB1-dependent cytokines, Chronic diarrhea, ...	OMIM:612132
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Liver abscess, Lung abscess, Acute colitis, Abdominal pain, Congestive he...	ORPHA:67
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased...	OMIM:613986
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Truncal obesity, Premature ovarian insufficiency, Camptodactyly of finger	ORPHA:2928
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte...	OMIM:615237
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia	OMIM:261650
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Hypereosinophilia, Lymphadenopathy, Leukemia, Histiocytosis	ORPHA:157991
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato...	OMIM:308230
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Restlessness, Facial hypotonia, Flexion contracture, Obesity, Bruxism, Macroorchidism, Male hypog...	OMIM:300055
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Diarrhea, Hype...	OMIM:615387
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomegaly, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadism, Portal ...	ORPHA:465508
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Endocardial Fibroelastosis	Congestive heart failure, Anterior hypopituitarism, Hypoglycemia, Restrictive cardiomyopathy	ORPHA:2022
Lactase Deficiency, Congenital	Diarrhea	OMIM:223000
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
B4Galt1-Cdg	Hepatomegaly, Inflammatory abnormality of the skin, Small for gestational age, Elevated circulati...	ORPHA:79332
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent...	OMIM:615518
Pancreatic Colipase Deficiency	Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Exocrine pancreatic insuffic...	ORPHA:309108
Tyrosinemia, Type I	Acute hepatic failure, Paralytic ileus, Hypophosphatemic rickets, Hepatomegaly, Ascites, Anemia, ...	OMIM:276700
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P...	OMIM:618398
Deeah Syndrome	Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio...	OMIM:619004
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul...	OMIM:618969
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Diarrhea, Hepatic failure, Steatorrhea, Hypoalbuminemia, Hepatic fibrosis, Cirrhosi...	OMIM:602579
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis	ORPHA:75563
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi...	ORPHA:95619
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Feeding difficulties in infancy, Splenom...	OMIM:257200
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine k...	OMIM:201475
Central Diabetes Insipidus	Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive	ORPHA:178029
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic steatosis	ORPHA:363400
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c...	ORPHA:785
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Cardiomegaly, Chronic diarrhea, Episodic abdominal pain, H...	OMIM:268800
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elev...	OMIM:613327
Congenital Tufting Enteropathy	Abdominal distention, Chronic diarrhea, Secretory diarrhea, Weight loss, Arthritis, Cholestatic l...	ORPHA:92050
Coenzyme Q10 Deficiency, Primary, 2	Overweight, Bulimia, Obesity	OMIM:614651
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Skin rash, Increased circulating ...	OMIM:603553
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Polyphagia, Obesity, Delayed puberty	ORPHA:251004
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Intestinal obstruction, Abdominal pain, Pulmonary embolism, Hypothyroidism, Diarrhe...	OMIM:226300
2P21 Microdeletion Syndrome	Failure to thrive, Hypogonadism, Hypocalcemia, Hypoglycemia	ORPHA:163693
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli...	ORPHA:280365
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina...	ORPHA:319218
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Poor appetite,...	ORPHA:91355
Abdominal Obesity-Metabolic Syndrome 3	Truncal obesity, Hyperglycemia, Type II diabetes mellitus, Abdominal obesity	OMIM:615812
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Diarrhea, Hepatitis, Bronchiectas...	ORPHA:33110
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Small for gestational age, Hypoglycemia, Feeding difficulties in infancy, Decreased body weight, ...	ORPHA:231140
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu...	ORPHA:54595
Trisomy 5P	Hypoplasia of penis, Obesity	ORPHA:1742
Wilson-Turner Syndrome	Truncal obesity, Hypogonadotropic hypogonadism, Cryptorchidism	ORPHA:3459
11Q22.2Q22.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors	ORPHA:444002
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T...	ORPHA:158048
Mevalonic Aciduria	Normocytic hypoplastic anemia, Failure to thrive, Failure to thrive in infancy, Elevated circulat...	OMIM:610377
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Skin rash, Elevated circul...	ORPHA:829
Attrv30M Amyloidosis	Diarrhea, Constipation, Weight loss	ORPHA:85447
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79444
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Nonketotic hypoglycemia, Sudden cardiac death, Elevated circulating acylca...	ORPHA:99901
Acth-Independent Macronodular Adrenal Hyperplasia	Skeletal muscle atrophy, Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal o...	OMIM:219080
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo...	ORPHA:26793
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Failure to thrive	ORPHA:73272
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Feeding difficulties in infancy, Small for gestational age, Gastrojejunal tube feeding in infancy...	ORPHA:231147
Borjeson-Forssman-Lehmann Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Cryptorchidism, Truncal obesity, Hyp...	ORPHA:127
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hyp...	ORPHA:79259
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Wagr Syndrome	Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Obesity	ORPHA:893
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Bi...	OMIM:615710
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Increased serum...	OMIM:620010
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven...	OMIM:615418
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, Attention deficit hyperacti...	ORPHA:284180
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Abdominal distention, Diarrhea, Weight loss	ORPHA:103910
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom...	OMIM:615688
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Hypoglycemia, Sudden cardiac death, Transient hyperlipidemia, Arrhythmia, Hypertrop...	ORPHA:156
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Hypoglycem...	OMIM:616113
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Hypoglycemia, Hyperammonemia, Vomiting, Hyperuricemia, Anemia	OMIM:246450
Galactose Epimerase Deficiency	Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Feeding difficulties	ORPHA:79238
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Elevated circulatin...	ORPHA:97287
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Vomiting, Gastroesophageal...	ORPHA:85450
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Hypoglycemia, Feeding difficulties, Hyperglycinemia, Neonatal death, Failure to thrive, Hypertaur...	OMIM:245400
Primary Hepatic Neuroendocrine Carcinoma	Intrahepatic cholestasis with episodic jaundice, Anorexia, Elevated carcinoembryonic antigen leve...	ORPHA:100085
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Left ventricular systolic dysfunction, Abnormal macrophage morphology, Elevated circulating creat...	ORPHA:353
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Insulin resistance, Obesity, Feeding difficulties, Recurr...	ORPHA:813
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,...	OMIM:619418
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ...	ORPHA:199296
Trichothiodystrophy 5, Nonphotosensitive	Chronic diarrhea, Chronic decreased circulating IgG1, Panhypopituitarism	OMIM:300953
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos...	OMIM:308700
Houge-Janssens Syndrome 1	Chronic diarrhea, Hypoglycemia	OMIM:616355
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Hyperkalemi...	OMIM:614736
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Diarrhea, Decreased circulating antibody level, Decreased circulating total IgM, B lym...	OMIM:614069
Congenital Myopathy 20	Chronic diarrhea, Failure to thrive	OMIM:620310
Congenital Generalized Lipodystrophy	Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Lipodystrophy...	ORPHA:528
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci...	ORPHA:2235
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Small for gestational age, Chronic diarrhea, Telangiectasia, Keratoconjun...	OMIM:601675
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab...	OMIM:194072
Nephronophthisis 15	Obesity	OMIM:614845
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated ci...	OMIM:620300
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir...	ORPHA:36234
Radiculoneuropathy, Fatal Neonatal	Chronic diarrhea	OMIM:266250
Abdominal Obesity-Metabolic Syndrome 4	Type II diabetes mellitus, Obesity	OMIM:618620
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive	ORPHA:172
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Smith-Kingsmore Syndrome	Hypoglycemia, Large for gestational age, Feeding difficulties, Thrombocytopenia, Decreased circul...	OMIM:616638
Wolman Disease	Nausea and vomiting, Hepatomegaly, Adrenal calcification, Cachexia, Bone-marrow foam cells, Splen...	ORPHA:75233
Bardet-Biedl Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Cryptorchidism, Obesity, Hypoplasia of the ovary, H...	ORPHA:110
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Obesity	OMIM:616756
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Obesity, Hypogonadism, Flexion cont...	ORPHA:3409
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Dilated cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperam...	OMIM:618120
Galactosemia I	Hemolytic anemia, Hepatomegaly, Hypergonadotropic hypogonadism, Diarrhea, Increased level of gala...	OMIM:230400
Hurler Syndrome	Hepatomegaly, Angina pectoris, Abnormality of the tonsils, Splenomegaly, Chronic diarrhea, Feedin...	ORPHA:93473
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Myocardial infarction, Abdominal pain, Diarrhea, Microangiopathic hemolytic anem...	ORPHA:54057
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymph...	ORPHA:275761
Atkin-Flaitz Syndrome	Macroorchidism, Obesity	ORPHA:1193
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Nausea, Protein avoidance, Increased circulating ferritin concentrat...	OMIM:222700
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Hepatomegaly	OMIM:266150
Combined Oxidative Phosphorylation Deficiency 47	Hepatomegaly, Failure to thrive, Hypoglycemia, Dysphagia	OMIM:618958
Infantile Systemic Hyalinosis	Telangiectasia of the skin, Chronic diarrhea, Feeding difficulties, Abnormality of the adrenal gl...	ORPHA:2176
Mitochondrial Neurogastrointestinal Encephalomyopathy	Small intestinal dysmotility, Hypogonadotropic hypogonadism, Cachexia, Poor appetite, Abdominal p...	ORPHA:298
Acrodysostosis 2 With Or Without Hormone Resistance	Hyperactivity, Diabetes mellitus, Hypospadias, Cryptorchidism, Obesity, Congenital hypothyroidism	OMIM:614613
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Lipoma, Obesity, Oral-pharyngeal dysphagia	ORPHA:480907
Glutaric Aciduria Iii	Diarrhea, Failure to thrive, Vomiting	OMIM:231690
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Decreased testicular size, Reduced subcutaneous adipose tissue, Decreased muscle mass, External g...	ORPHA:3041
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity	ORPHA:276630
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Esophagitis	OMIM:619079
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Malnutrition, Protracted diarrhea	OMIM:251850
Summitt Syndrome	Camptodactyly of finger, Obesity, Tall stature	ORPHA:3210
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio...	ORPHA:189427
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diarrhea, Diabetes mellitus, Anorexia	ORPHA:49827
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Congenital Toxoplasmosis	Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice, Diarrhea, Lymphadenopathy, An...	ORPHA:858
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma, Reduced serum alpha-1-antitrypsin	OMIM:613490
Cholestasis, Progressive Familial Intrahepatic, 5	Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia...	OMIM:617049
Weaver Syndrome	Inguinal hernia, Diastasis recti, Cryptorchidism, Hydrocele testis, Overgrowth, Camptodactyly, Um...	OMIM:277590
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ...	OMIM:615925
X-Linked Intellectual Disability, Shashi Type	Macroorchidism, Obesity	ORPHA:85286
Pituitary Apoplexy	Hyponatremia, Nausea and vomiting, Hypergonadotropic hypogonadism, Decreased response to growth h...	ORPHA:95613
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Elevated circulating tiglylglycine concentration, Hypoglycemia	OMIM:300438
Secondary Short Bowel Syndrome	Central hypothyroidism, Weight loss, Primary hypothyroidism, Failure to thrive, Polyphagia	ORPHA:95427
Rafiq Syndrome	Truncal obesity, Flexion contracture, Obesity, Aggressive behavior	OMIM:614202
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Hypoglycemia, Hyperammonemia, Feeding difficulties, Hyperalaninemia, Failure to thrive	OMIM:614739
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Acute pancreatitis, Hypoglycemia, Elevated circulating creatine kinase concentratio...	ORPHA:26791
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Decreased response to growth hormo...	OMIM:615577
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Poor suck, Hypoglycemia	OMIM:615026
Combined Oxidative Phosphorylation Deficiency 54	Hypergonadotropic hypogonadism, Lower limb muscle weakness, Obesity, Primary amenorrhea	OMIM:619737
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Skeletal muscle hypertrophy, Macroglossia, Myopathy, Umbilical hernia, Hypothyroidism	ORPHA:2349
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Skin rash, Eosinophilia, Cardiac arrest, Pustule, Myocarditis, Hepatitis, ...	ORPHA:139402
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Hypoglycemia, Reye syndrome-like episodes, Diarrhea, Vomiting, Hyperur...	ORPHA:348
Infantile Liver Failure Syndrome 2	Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Cardiomyopathy, Vomiting	OMIM:616483
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype...	ORPHA:64743
Mitochondrial Trifunctional Protein Deficiency 1	Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati...	OMIM:609015
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Diarrhea, Neuromuscular dysphagia, I...	ORPHA:449285
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Rabson-Mendenhall Syndrome	Enlarged ovaries, Short stature, Impaired glucose tolerance, Precocious puberty, Hypothyroidism, ...	ORPHA:769
15Q24 Microdeletion Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap...	ORPHA:94065
Babesiosis	Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Anorexia, Myocardial infarction, Splenomegal...	ORPHA:108
7Q11.23 Microduplication Syndrome	Hyperactivity, Collectionism, Hypospadias, Inguinal hernia, Congenital diaphragmatic hernia, Aggr...	ORPHA:96121
Dubowitz Syndrome	Aplastic anemia, Eczema, Feeding difficulties in infancy, Chronic diarrhea, Acute lymphoblastic l...	OMIM:223370
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Maple Syrup Urine Disease	Elevated circulating branched chain amino acid concentration, Hypoglycemia, Feeding difficulties ...	OMIM:248600
Laron Syndrome	Hypoglycemia, Abnormality of the endocrine system, Osteoarthritis, Truncal obesity, Delayed puber...	ORPHA:633
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Obesity, Feeding difficulties, T...	ORPHA:96184
Cinca Syndrome	Nausea and vomiting, Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive pr...	ORPHA:1451
Combined Oxidative Phosphorylation Deficiency 36	Hyperalaninemia, Failure to thrive, Hypoglycemia	OMIM:617950
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Diarrhea, Hyperkalemia, Feeding difficulties, Hyperactive renin-angiotensin system,...	OMIM:177735
Megalencephaly	Macroorchidism, Truncal obesity, Long penis	ORPHA:2477
Immunodeficiency 61	Obesity, Attention deficit hyperactivity disorder	OMIM:300310
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity...	ORPHA:77296
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Eosinophilia, Eosinophilic infiltration of the esophagus, Eczema, Subarachno...	OMIM:243700
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Central ...	ORPHA:514
Sandhoff Disease, Juvenile Form	Diarrhea, Failure to thrive, Constipation, Dysphagia	ORPHA:309162
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Feeding difficulties, Thrombocytopenia	OMIM:615010
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:228305
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Weight loss, Vomiting, Fa...	ORPHA:35710
Bardet-Biedl Syndrome 19	Hypogonadism, Obesity, External genital hypoplasia	OMIM:615996
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Skeletal muscle hypertrophy...	OMIM:608840
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Cardiomegaly, Feeding difficulties in infancy...	OMIM:608836
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Glycogen Storage Disease Ia	Hepatomegaly, Hypoglycemia, Hyperlipidemia, Delayed puberty, Gout, Hypertension, Hyperuricemia, P...	OMIM:232200
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
Deafness-Lymphedema-Leukemia Syndrome	Nausea and vomiting, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute l...	ORPHA:3226
Congenital-Onset Steinert Myotonic Dystrophy	Abdominal pain, Encopresis, Diarrhea, Obesity, Dysphagia, Gastroesophageal reflux, Constipation, ...	ORPHA:589821
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79443
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Diarrhea, In...	OMIM:601847
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Myeloproliferative disorder, Restrictive cardiomyopathy	OMIM:607685
Timothy Syndrome	Prolonged QT interval, Hypoglycemia, Pneumonia, Cardiomegaly, Ventricular tachycardia, Atrioventr...	OMIM:601005
Intellectual Developmental Disorder, Autosomal Dominant 1	Aggressive behavior, Self-injurious behavior, Macroglossia, Inappropriate laughter, Bruxism, Micr...	OMIM:156200
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Diarrhea, Hepatic failure, Hyperb...	OMIM:235555
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Cryptorchidism, Obesity	OMIM:615633
Kallmann Syndrome With Spastic Paraplegia	Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog...	OMIM:308750
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho...	OMIM:607765
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Splenomegaly, Jau...	OMIM:608779
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Aggressive behavior, Hypothyroidism, Obesity, Self-injurious behavior, Skin-pickin...	OMIM:600430
Tenorio Syndrome	Hypoglycemia, Raynaud phenomenon, Recurrent pneumonia, Keratoconjunctivitis sicca, Syncope, Gastr...	OMIM:616260
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Hypoadrenocorticism, Familial	Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Feeding difficulties in infancy, Hyperkalemia, Vo...	OMIM:240200
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic diarrhea, Chronic mucocutaneous candidiasis...	OMIM:158310
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Feeding difficulties in infancy, Diarrhea, Hyperkalemia, Hyperactive renin-angioten...	OMIM:264350
Somatostatinoma	Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo...	ORPHA:97283
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi...	ORPHA:139507
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub...	OMIM:211600
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Idiopathic Intracranial Hypertension	Vomiting, Obesity, Nausea	ORPHA:238624
Cerebrooculofacioskeletal Syndrome 1	Insulin resistance, Failure to thrive, Small for gestational age	OMIM:214150
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Intermittent diarrhea, Malnutrition, Gastroesophageal reflux, Feeding difficulties	OMIM:619971
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Abdominal pain, Leukocyt...	ORPHA:98849
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Tachycardia, ...	ORPHA:542323
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, ...	ORPHA:99745
Glucagonoma	Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Acanthocytosis, Intermittent jaundic...	ORPHA:97280
Shox-Related Short Stature	Skeletal muscle hypertrophy, Obesity	ORPHA:314795
48,Xxxy Syndrome	Hypoplasia of penis, Small scrotum, Inguinal hernia, Abnormal dental enamel morphology, Cryptorch...	ORPHA:96263
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infections, Abdo...	ORPHA:486
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aggressive behavior, Cryptorchidism, Disproportionate tall stature, Abdominal obesity, Attention ...	OMIM:301039
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein ...	ORPHA:85414
Maculopapular Cutaneous Mastocytosis	Diarrhea, Vomiting, Nausea, Abdominal pain	ORPHA:79457
Methanol Poisoning	Myocardial infarction, Abdominal pain, Cerebral hemorrhage, Hyperlipidemia, Diarrhea, Permanent a...	ORPHA:31825
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Knee osteoarthrit...	ORPHA:1304
Orthostatic Hypotension 2	Orthostatic hypotension, Hypoglycemia, Anemia	OMIM:618182
Adult Acute Respiratory Distress Syndrome	Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Abnormal circula...	ORPHA:70578
Hereditary Folate Malabsorption	Nausea and vomiting, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Cheili...	ORPHA:90045
Pfapa Syndrome	Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Lymphadenopathy, Weight loss, Ar...	ORPHA:42642
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Myositis, Sinusitis, Skin rash, Splenomega...	OMIM:617591
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Weight loss	ORPHA:86893
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Autoimmune hemolytic anemia, Failure to thrive, Hypouricemia, Increased circ...	OMIM:613179
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Congenital adrenal hyp...	ORPHA:90791
Mandibuloacral Dysplasia	Postnatal growth retardation, Abnormal tongue morphology, Insulin resistance, Hyperinsulinemia, I...	ORPHA:2457
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hypoalbuminemi...	ORPHA:171
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Hypoglycemia, Low plasma citrulline, Increased hepatic echogenicity, Fasting hypogl...	OMIM:261680
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Adrenal insuffic...	OMIM:609981
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, F...	ORPHA:556030
Chromosome Xq21 Deletion Syndrome	Obesity	OMIM:303110
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Feeding difficulties, Cholestatic liver disease, Hypertrophic cardiom...	ORPHA:5
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, ...	ORPHA:227990
Carnitine-Acylcarnitine Translocase Deficiency	Hepatomegaly, Elevated circulating acylcarnitine concentration, Ventricular tachycardia, Hyperamm...	ORPHA:159
Muscle Hypertrophy	Skeletal muscle hypertrophy	OMIM:614160
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Glucose intolerance, Hepatic failure, Impaired glucose tolerance, Obesity	OMIM:615630
Alstrom Syndrome	Hepatomegaly, Chronic active hepatitis, Short stature, Decreased response to growth hormone stimu...	OMIM:203800
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper...	OMIM:618363
Diamond-Blackfan Anemia 21	Aortic regurgitation, Erythroid hypoplasia, Chronic diarrhea, Obesity, Anemia, Thrombocytopenia	OMIM:620072
Mitochondrial Complex Iii Deficiency, Nuclear Type 9	Hypoglycemia, Feeding difficulties	OMIM:616111
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Hypoglycemia, Feeding difficulties in infancy, Acute hepatic steatosis, Vom...	OMIM:210200
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepati...	OMIM:613812
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hypospadias, Cryptorchidism, Obesity, Umbilical hernia, Micropenis	ORPHA:171839
Clark-Baraitser Syndrome	Hyperactivity, Obesity, Aggressive behavior	OMIM:617752
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1	Class III obesity	OMIM:616418
Clark-Baraitser syndrome	Macroorchidism, Obesity, Tall stature	OMIM:300602
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Secretory diarrhea, Bloody diarrhea, Gastroint...	ORPHA:544482
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting	OMIM:619445
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Aromatase Deficiency	Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism...	ORPHA:91
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Intr...	OMIM:619055
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Pneumonia,...	ORPHA:90790
Myopathy, Myofibrillar, 1	Diarrhea, Constipation	OMIM:601419
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointerstitial nep...	ORPHA:227982
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Decreased testicular size, Restlessness, External genital hypoplasia, Aggressive behavior, Crypto...	ORPHA:251028
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Nausea, Functional intestinal obstruction, Lymphadenopathy, Episodic abdo...	ORPHA:100078
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Angina pectoris, Myocardial infarction, Overweight, Sple...	ORPHA:90041
Dracunculiasis	Nausea and vomiting, Diarrhea	ORPHA:231
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, E...	OMIM:214900
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Hypoglycemia, Conjugated hyperbilirubinemia, Intrahepatic cholestasis,...	OMIM:617093
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I...	ORPHA:556037
Caroli Disease	Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Vomiting, ...	ORPHA:53035
Adnp Syndrome	Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Cryptorchidism, Truncal obesity,...	ORPHA:404448
Glycogen Storage Disease Ic	Hepatomegaly, Stomatitis, Cyclic neutropenia, Hypoglycemia, Chronic pancreatitis, Spider hemangio...	OMIM:232240
Familial Multiple Lipomatosis	Insulin resistance, Overgrowth, Functional intestinal obstruction	ORPHA:199276
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Decreased hemoglobin concentration, Decreased heart rate variability, Chronic diarr...	OMIM:619005
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Severe temper tantrums, Obesity, Stereotypical hand wringing	OMIM:619854
Intellectual Developmental Disorder, Autosomal Recessive 13	Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism	OMIM:613192
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Obesity, Pseudohypoparathyroidism...	OMIM:612462
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Poor appetite, Splenomegaly, Diarrhea, Decreased serum zinc, Hypogonadism, Decrease...	OMIM:201100
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ...	ORPHA:99827
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hypothyroidi...	OMIM:615846
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Precocious puberty, Obesity	ORPHA:254525
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Obesity	ORPHA:521390
Cholestasis-Lymphedema Syndrome	Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension, Abdominal pa...	ORPHA:1414
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Acute hyperammonemia, Poor appetite, Reye syndrome-like episodes, Hyperglutaminemia...	ORPHA:927
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Abnormality of the diaphragm, Congenital diaphragmatic hernia, Testicular atrophy	OMIM:601163
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Calf muscle pseudohypertrophy, Diabetes mellitus, L...	ORPHA:79083
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Overweight, Feeding difficulties in infancy, Chronic diarrhea, Chronic constipation, Gastroesopha...	ORPHA:500055
Carpenter Syndrome	External genital hypoplasia, Abnormal reproductive system morphology, Cryptorchidism, Obesity, Um...	ORPHA:65759
Cholera	Hyponatremia, Tachycardia, Hypoglycemia, Achlorhydria, Abdominal pain, Diarrhea, Abnormal blood i...	ORPHA:173
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Obesity, Pseudohypoparathyroidism	OMIM:612463
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor...	ORPHA:98848
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Diarrhea, Failure to thrive, Vomiting	OMIM:560000
Hyaline Fibromatosis Syndrome	Diarrhea, Failure to thrive	OMIM:228600
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Anorexia, Abdominal pain, Hypersplenism, Splenomegaly, Osteoarthritis...	ORPHA:77259
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morphology	ORPHA:2584
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin...	ORPHA:381
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Laurence-Moon Syndrome	Micropenis, Small scrotum, Obesity	OMIM:245800
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy, Hypoglycemia, Feeding difficulties	OMIM:618241
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Hypoglycemia, E...	OMIM:619355
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperi...	ORPHA:79086
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Cryptorchidism, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Mus...	OMIM:613156
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Eczema, Abdominal pain, Abdominal distention, Diarrhea, Thyroiditis, Weight lo...	OMIM:212750
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cir...	ORPHA:79301
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Obesity, Congenital hypothyroidism	ORPHA:352530
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge...	ORPHA:169189
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Small for gestational age, Hypergonadotropic hypogonadism, Supraventric...	ORPHA:2959
Cog4-Cdg	Fatal liver failure in infancy, Failure to thrive in infancy, Hepatosplenomegaly, Feeding difficu...	ORPHA:263501
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti...	OMIM:307200
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Feeding difficulties i...	ORPHA:746
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Puberty and gonadal disorders, Abnormality of the musculature of the lower limbs, Obesity	ORPHA:464282
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr...	ORPHA:158029
Short Syndrome	Insulin resistance, Diabetes mellitus, Poor appetite, Weight loss	ORPHA:3163
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Cryptorchidism, Attention deficit hyperactivity disorder, Increased body weight, Impulsivity	ORPHA:589905
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Flexion contracture, Skeletal ...	OMIM:611588
Retinal Dystrophy And Obesity	Obesity	OMIM:616188
Fanconi-Bickel Syndrome	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Abdominal dist...	ORPHA:2088
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma, Abnorma...	ORPHA:3162
Monosomy 13Q34	Hematochezia, Insulin resistance, Obesity	ORPHA:96168
Combined Oxidative Phosphorylation Deficiency 37	Hypoglycemia, Feeding difficulties, Bile duct proliferation, Hypoalbuminemia, Macrovesicular hepa...	OMIM:618329
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypoglycemia, Jaundice, Vomiting, Glycosuria, Neonatal death, Elevated circulating ...	OMIM:231680
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hyperactivity, Obesity	ORPHA:397973
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Angina pectoris, Elevated ...	ORPHA:565612
Neonatal Lupus Erythematosus	Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Maculopapul...	ORPHA:398124
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis...	ORPHA:47612
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Feeding difficulties in infancy, Small for gestational age, Hypoglycemia, Gastrostomy tube feedin...	ORPHA:231137
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni...	OMIM:618935
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose...	OMIM:219090
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Abdominal pain, Gastrointestinal dysmotil...	OMIM:603041
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi...	OMIM:243150
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Kallmann Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon...	ORPHA:478
Glycogen Storage Disease Ixd	Hypoglycemia, Elevated circulating creatine kinase concentration	OMIM:300559
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Obesity	OMIM:606772
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E...	OMIM:619658
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, ...	OMIM:617156
Rett Syndrome	Skeletal muscle atrophy, Agitation, Increased serum leptin, Failure to thrive, Abnormal repetitiv...	ORPHA:778
American Trypanosomiasis	Hepatomegaly, Skin rash, Abnormal large intestine physiology, Abdominal pain, Splenomegaly, Myoca...	ORPHA:3386
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Jaundice, Prolonged ne...	OMIM:300908
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactiv...	OMIM:612852
Cornelia De Lange Syndrome 5	Cryptorchidism, Truncal obesity, Hypogonadism, Micropenis, Decreased testicular size	OMIM:300882
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L...	ORPHA:470
Multiple Endocrine Neoplasia, Type I	Hypoglycemia, Peptic ulcer, Elevated circulating growth hormone concentration, Pancreatic islet c...	OMIM:131100
Hsd10 Disease, Infantile Type	Hypoglycemia, Cardiomegaly, Gastrointestinal dysmotility, Hyperammonemia, Dysphagia, Hypertrophic...	ORPHA:391428
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypoglycemia, Microvesicular hepatic steatosis, Congestive heart failure, Dilated cardiomyopathy,...	OMIM:611126
Alg12-Cdg	Hyponatremia, Decreased serum insulin-like growth factor 1, Partial absence of specific antibody ...	ORPHA:79324
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis	ORPHA:66661
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Skin rash, Elevated circulating C-reactive protein con...	ORPHA:50918
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipodystrophy, Dysmenorrhea, Lip...	ORPHA:2348
Hemochromatosis, Type 4	Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance	OMIM:606069
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cardiomyopathy, Hypoglycemia, Thrombocytopenia, Feeding difficulties	OMIM:617710
Autoimmune Hepatitis	Spider hemangioma, Fulminant hepatitis, Increased circulating IgG level, Inflammation of the larg...	ORPHA:2137
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Recurrent hypoglycemia, Gastroesophageal reflux	OMIM:618158
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Decreased circulating antibo...	OMIM:618042
Adult Intestinal Botulism	Diarrhea	ORPHA:178487
Short Syndrome	Small for gestational age, Insulin resistance, Insulin-resistant diabetes mellitus, Glucose intol...	OMIM:269880
Dehydrated Hereditary Stomatocytosis	Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassium conce...	ORPHA:3202
X-Linked Intellectual Disability, Stevenson Type	Obesity, Tall stature, Feeding difficulties	ORPHA:85325
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L...	OMIM:612840
Inflammatory Skin And Bowel Disease, Neonatal, 2	Pustule, Increased circulating IgE level, Secretory diarrhea, Recurrent pneumonia, Hypertension, ...	OMIM:616069
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Diarrhea,...	OMIM:275350
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex...	OMIM:601346
Lujo Hemorrhagic Fever	Shock, Maculopapular exanthema, Skin rash, Elevated circulating C-reactive protein concentration,...	ORPHA:319213
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Hepatic steatosis, Hyper...	ORPHA:247598
Leprechaunism	Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Rectal prolapse, Insulin resistance...	ORPHA:508
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Abdominal pain, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin c...	ORPHA:100924
Ppoma	Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo...	ORPHA:97278
X-Linked Intellectual Disability, Cabezas Type	Hyperactivity, Hypoplasia of penis, Inguinal hernia, Camptodactyly of finger, Cachexia, Aggressiv...	ORPHA:85293
Acrodermatitis Enteropathica	Anorexia, Poor appetite, Pustule, Chronic diarrhea, Cheilitis, Weight loss, Conjunctivitis, Failu...	ORPHA:37
Systemic Capillary Leak Syndrome	Pericarditis, Abdominal pain, Myocarditis, Leukocytosis, Diarrhea, Weight loss, Hypotension, Arrh...	ORPHA:188
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Diabetes mellitus	OMIM:615381
Rippling Muscle Disease 2	Skeletal muscle hypertrophy, Calf muscle hypertrophy	OMIM:606072
Dubowitz Syndrome	Hypoparathyroidism, Eczema, Abnormality of neutrophils, Chronic diarrhea, Acute lymphoblastic leu...	ORPHA:235
Kleefstra Syndrome 1	Hypospadias, Aggressive behavior, Cryptorchidism, Obesity, Macroglossia, Compulsive behaviors, Mi...	OMIM:610253
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimmune thrombocytopenia, Splenomeg...	ORPHA:1572
Bardet-Biedl Syndrome 21	Overweight, Obesity	OMIM:617406
Pyridoxine-Dependent Epilepsy	Hypoglycemia, Feeding difficulties	ORPHA:3006
Vici Syndrome	Decreased circulating IgG level, Lymphopenia, Failure to thrive, Left ventricular hypertrophy, El...	OMIM:242840
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Diarrhea, Po...	OMIM:602347
Adiposis Dolorosa	Constipation, Xerostomia, Obesity, Diarrhea	ORPHA:36397
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Abdominal pain, Splenomegaly, Recurrent tonsillitis, Lymphadenop...	OMIM:618852
Tatton-Brown-Rahman Syndrome	Aggressive behavior, Cryptorchidism, Obesity, Proportionate tall stature, Umbilical hernia, Neuro...	ORPHA:404443
Pediatric Systemic Lupus Erythematosus	Myositis, Skin rash, Abdominal pain, Discoid lupus rash, Abdominal distention, Diarrhea, Raynaud ...	ORPHA:93552
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, Anorexia...	ORPHA:824
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Poor appetite, Feeding difficulties in infancy, Insulin resistance, Vo...	ORPHA:96182
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Chronic diarrhea, Hypoglycemia	ORPHA:457279
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Kaposi Sarcoma	Generalized lymphadenopathy, Skin rash, Abnormality of the spleen, Diarrhea, Weight loss, Abnorma...	ORPHA:33276
19P13.12 Microdeletion Syndrome	Hyperactivity, Hypospadias, Precocious puberty, Cryptorchidism, Obesity, Self-injurious behavior,...	ORPHA:254346
Subaortic Stenosis-Short Stature Syndrome	Type II diabetes mellitus, Obesity	ORPHA:3191
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Facial palsy, Decreased response to growth hormone stimulation test, Abnormal repe...	OMIM:615873
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Feeding difficulties in infancy, Splenomegaly, Primary h...	OMIM:239200
Grfoma	Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Pheochromocytoma, Hepatome...	ORPHA:97261
Bardet-Biedl Syndrome 3	Obesity, External genital hypoplasia	OMIM:600151
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Feeding difficulties in infancy, Hyperkalemia, Increased circulating renin level, V...	OMIM:203400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial ...	OMIM:157640
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Glycosuri...	OMIM:616026
Vipoma	Anorexia, Poor appetite, Secretory diarrhea, Hepatomegaly, Follicular thyroid carcinoma, Intermit...	ORPHA:97282
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Growth delay, Glucose intolerance, High pa...	OMIM:608612
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Prolidase Deficiency	Hepatomegaly, Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, Diffus...	OMIM:170100
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Hypoglycemia, Elevated circulating creatine kinase concentra...	ORPHA:480864
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Small for gestational age, Hypoglycemia, Recurrent pneumonia, Fe...	OMIM:607143
Müllerian Aplasia And Hyperandrogenism	Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnorm...	ORPHA:247768
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Decreased ...	OMIM:240300
Colchicine Poisoning	Hyponatremia, Myocarditis, Leukocytosis, Diarrhea, Hypovolemia, Abnormal blood ion concentration,...	ORPHA:31824
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, P...	ORPHA:3157
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Truncal obesity	ORPHA:2429
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen...	ORPHA:226313
Pseudopseudohypoparathyroidism	Abnormality of the endocrine system, Elevated circulating parathyroid hormone level, Obesity	ORPHA:79445
Glucocorticoid Resistance, Generalized	Hypoglycemia, Increased circulating ACTH level, Hypertension, Increased circulating cortisol leve...	OMIM:615962
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Increased c...	OMIM:615830
Beta-Mercaptolactate Cysteine Disulfiduria	Umbilical hernia, Obesity	ORPHA:1035
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Hypoglycemia, Hyperammonemia, Vomiting, Hyperglycemia, Failure to thrive	OMIM:615453
Granulomatosis With Polyangiitis	Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C...	ORPHA:900
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Hypoglycemia, Elevated circulating creatine kinase concentration, Premature thelarche, Oral-phary...	OMIM:616878
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Abnormality of the endocrine system, Cryptorchidism, Obesity, Pseudohypoparathyroidism	ORPHA:464288
Joubert Syndrome 37	Decreased testicular size, Cryptorchidism, Micropenis, Obesity	OMIM:619185
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Truncal obesity	ORPHA:85280
Pseudohypoparathyroidism, Type Ia	Obesity, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogonadism, ...	OMIM:103580
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hyp...	ORPHA:77297
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Chronic constipation, Obesity, Feeding difficulties	OMIM:619056
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope...	OMIM:619991
Macrocephaly/Autism Syndrome	Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le...	OMIM:605309
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Small for gestational age, Cryptorchidism, Truncal obesity, Microphallus	OMIM:300957
Congenital Disorder Of Glycosylation, Type Im	Inflammatory abnormality of the skin, Increased circulating free fatty acid level, Diarrhea, Dila...	OMIM:610768
H Syndrome	Hypertriglyceridemia, Psoriasiform dermatitis, Diabetes mellitus, Microcytic anemia, Abnormal car...	ORPHA:168569
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Abdo...	ORPHA:793
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Protr...	OMIM:209920
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Hypoglycemia	ORPHA:48431
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i...	OMIM:613157
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms...	OMIM:618430
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,...	OMIM:201400
Familial Pancreatic Carcinoma	Nausea and vomiting, Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-obstruction,...	ORPHA:1333
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Abnormal natural killer cell...	OMIM:615966
Methionine Malabsorption Syndrome	Diarrhea	OMIM:250900
Seckel Syndrome 10	Diabetes mellitus, Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Glycosuria	OMIM:617253
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Megaloblastic anemia, Pulmonary embolism...	ORPHA:79282
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Angelman Syndrome Due To A Point Mutation	Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent...	ORPHA:411511
Hepatic Veno-Occlusive Disease	Increased body weight, Abdominal pain	ORPHA:890
3-Methylglutaconic Aciduria Type 7	Hypothyroidism, Feeding difficulties, Cardiomyopathy, Bone marrow hypocellularity, Infection asso...	ORPHA:445038
Rippling Muscle Disease 1	Skeletal muscle hypertrophy	OMIM:600332
Pancreatoblastoma	Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting	ORPHA:677
Baralle-Macken Syndrome	Obesity	OMIM:619255
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	OMIM:151660
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia...	OMIM:617237
Low Phospholipid-Associated Cholelithiasis	Overweight, Abdominal colic, Diabetes mellitus, Obesity	ORPHA:69663
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Feeding difficulties, Vo...	ORPHA:2609
Glucocorticoid Deficiency 1	Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve...	OMIM:202200
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Anorexia, Poor appetite, Splenomegaly, Lymphadenopathy, Weight loss, Bon...	ORPHA:391
3-Methylglutaconic Aciduria, Type Viib	Neonatal hypoglycemia, Congestive heart failure, Recurrent pneumonia, Feeding difficulties, Leuko...	OMIM:616271
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Hyperactivity, Obesity, Tall stature	OMIM:618089
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma...	ORPHA:96180
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hepatomegaly, Impaired glucose tolerance, Postnatal growth retardation, Insulin-resistant diabete...	OMIM:248370
Cutaneous Mastocytoma	Maculopapular exanthema, Telangiectasia of the skin, Abdominal pain, Diarrhea, Lymphadenopathy, V...	ORPHA:79455
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Obesity, Hypomimic face	ORPHA:93952
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive	ORPHA:2089
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve...	ORPHA:343
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H...	OMIM:263400
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Amyloidosis, Familial Visceral	Hepatomegaly, Skin rash, Splenomegaly, Cholestasis, Hypertension	OMIM:105200
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Epistaxis, Abnormality of neutrophi...	ORPHA:33226
Senior-Loken Syndrome 9	Hypogonadism, Obesity	OMIM:616629
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Hypertension, Hypokalemia, Hypotension, Anemia	OMIM:611489
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Aggressive behavior, Precocious puberty, Obesity, Skin-picking, Abnormal temper ta...	ORPHA:163681
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo...	ORPHA:167
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Vasculitis, Uveitis, Arthrit...	ORPHA:575
Hereditary Fructose Intolerance	Hepatomegaly, Abdominal pain, Reactive hypoglycemia, Abdominal distention, Jaundice, Diarrhea, Hy...	ORPHA:469
Bachmann-Bupp Syndrome	Feeding difficulties in infancy, Hypoglycemia, Hyperbilirubinemia, Large for gestational age	OMIM:619075
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Abdominal pain, Asplenia, Splenomegaly, Splenic infarction, Hypo...	ORPHA:251380
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Interstitial pneumonitis, Vomitin...	ORPHA:454831
Acetazolamide-Responsive Myotonia	Skeletal muscle hypertrophy, Hypothyroidism, Dysphagia	ORPHA:99736
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Hypoglycemia, Seborrheic dermatitis, Hyperammonemia, Feeding difficulties, ...	OMIM:210210
Q Fever	Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Infectious...	ORPHA:781
Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia	ORPHA:1267
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Hypoglycemia, Feeding difficulties, Neutropenia, Failure to thrive, Hypothyroidism	OMIM:618005
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Arthritis, Lipogranulomatosis, Failure to thrive	OMIM:228000
Congenital Rubella Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Anemia, Type I diabetes mellitus, Thrombocytopenia	ORPHA:290
Leigh Syndrome	Hypoglycemia, Eczema, Congestive heart failure, Gastrointestinal dysmotility, Hepatic failure, Dy...	ORPHA:506
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Skeletal muscle hypertrophy, Muscular dystrophy	OMIM:613158
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat...	ORPHA:228308
Microtriplication 11Q24.1	Obesity, Bruxism	ORPHA:289522
Mucopolysaccharidosis Type 2, Severe Form	Splenomegaly, Chronic diarrhea, Enlarged tonsils, Heart murmur, Hepatosplenomegaly, Arthritis, Ca...	ORPHA:217085
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Inguinal hernia, Femoral hernia, Cryptorchidism, Obesity, Macroglossia, Fail...	ORPHA:96147
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Short stature, Hypoglycemia, Adrenal hypoplasia, Cryptorchidism, Hyp...	ORPHA:95496
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hematochezia, Hypokalemia, Vomiting, Hy...	OMIM:175500
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul...	ORPHA:289548
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hepatic steatosis, Pancytopenia, Small for gestational age, Hypoglycemia, Portal hypertension, Ch...	OMIM:613658
Mucopolysaccharidosis Type 2, Attenuated Form	Splenomegaly, Chronic diarrhea, Enlarged tonsils, Heart murmur, Hepatosplenomegaly, Arthritis, Ca...	ORPHA:217093
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Cryptorchidism, Hypothyroidism, Polyph...	ORPHA:1606
D-Glyceric Aciduria	Hypoglycemia, Nonketotic hyperglycinemia, Gastroesophageal reflux, Bradycardia, Failure to thrive	OMIM:220120
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Recurrent pneumonia, Chronic diarrhea, A...	ORPHA:647
Hemorrhagic Fever-Renal Syndrome	Increased circulating interleukin 6 concentration, Acute tubulointerstitial nephritis, Intracrani...	ORPHA:340
Myotonic Dystrophy 1	Facial diplegia, Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular ...	OMIM:160900
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Increased circulating renin level, Decr...	ORPHA:168558
Cronkhite-Canada Syndrome	Hepatomegaly, Anorexia, Cachexia, Abdominal pain, Splenomegaly, Diarrhea, Anemia	ORPHA:2930
Neuroendocrine Neoplasm Of Appendix	Anorexia, Poor appetite, Hepatomegaly, Abdominal colic, Functional intestinal obstruction, Chroni...	ORPHA:100079
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration, Poor appetite...	ORPHA:352447
Scrub Typhus	Nausea and vomiting, Anterior uveitis, Skin rash, Abdominal pain, Splenomegaly, Myocarditis, Lymp...	ORPHA:83317
Medullary Thyroid Carcinoma	Diarrhea, Primary hyperparathyroidism, Dysphagia, Abnormal liver parenchyma morphology, Lymphaden...	ORPHA:1332
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea...	ORPHA:247585
Listeriosis	Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec...	ORPHA:533
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Nausea and vomiting, Skin rash, Abdominal pain, Splenomegaly, Diarrhe...	ORPHA:36412
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Acute colitis, Myocardial infarction, Abdominal pain, Leukocytosis...	ORPHA:90038
Pancreatitis, Hereditary	Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex...	OMIM:167800
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Sti...	ORPHA:85212
Intestinal Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia	ORPHA:178481
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Small for gestational age, Hypoglycemia, Delayed puberty, Decreased body weigh...	ORPHA:391408
Bardet-Biedl Syndrome 17	Polydipsia, Hypogonadism, Obesity, Micropenis	OMIM:615994
Vascular Hyalinosis	Hematochezia, Diarrhea	OMIM:277175
Glutaric Acidemia I	Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia, Hepatomegaly	OMIM:231670
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ...	OMIM:256810
Dpm1-Cdg	Hepatomegaly, Elevated circulating creatine kinase concentration, Diarrhea, Hepatosplenomegaly, H...	ORPHA:79322
Congenital Disorder Of Glycosylation, Type Ii	Hepatomegaly, Diarrhea, Iron deficiency anemia, Gastroesophageal reflux, Decreased body weight, H...	OMIM:607906
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggressive beh...	ORPHA:293987
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu...	OMIM:270450
Ulnar-Mammary Syndrome	Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Aplasia of the pectoralis major mus...	ORPHA:3138
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Scapular winging, Small for gestational age, Overweight, Bilateral cryptorchidism,...	OMIM:617796
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Bloody diarrhea, Feeding difficulties	OMIM:615119
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Dependency on intravenous nutrition, Small for gestational ag...	ORPHA:84064
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Weight loss, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Gitelman Syndrome	Maternal diabetes, Iron deficiency anemia, Tubulointerstitial nephritis, Glucose intolerance, Hyp...	ORPHA:358
Poikiloderma With Neutropenia	Skin rash, Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent pneumonia,...	OMIM:604173
Kleefstra Syndrome	Hypoplasia of penis, Hypospadias, Supernumerary nipple, Aggressive behavior, Cryptorchidism, Obes...	ORPHA:261494
Familial Hypoaldosteronism	Hyponatremia, Nausea and vomiting, Orthostatic hypotension, Diarrhea, Hyperkalemia, Hypovolemia, ...	ORPHA:427
8P23.1 Microdeletion Syndrome	Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Weight loss, Attention def...	ORPHA:251071
Distal 16P11.2 Microdeletion Syndrome	Chronic constipation, Obesity	ORPHA:261222
Foodborne Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia	ORPHA:228371
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Failure to thrive, Hepatomega...	OMIM:618278
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Microvesicular hepatic steatosis, Dilated cardiomyopathy, Hypochromic micr...	ORPHA:66634
Spontaneous Periodic Hypothermia	Nausea and vomiting, Diarrhea	ORPHA:29822
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Small for gestational age, Diastasis recti, Large for gestational age, Overgrowth, U...	ORPHA:254534
Cold Agglutinin Disease	Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy	ORPHA:56425
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Spo...	OMIM:214500
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Abdominal pain, Elevated circulating sitosterol con...	OMIM:210250
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties i...	OMIM:253260
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased testicular size, Decreased response to growth hormone stimulation test, Overweight, Mic...	ORPHA:457240
Alg8-Cdg	Hyponatremia, Small for gestational age, Diarrhea, Feeding difficulties, Anemia, Ascites, Vomitin...	ORPHA:79325
Chronic Myeloid Leukemia	Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative di...	ORPHA:521
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Smith-Magenis Syndrome	Hyperactivity, Abnormality of the thyroid gland, Self hugging, Increased body weight, Head-bangin...	OMIM:182290
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hepatomegaly, H...	ORPHA:3008
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Feeding difficulties in infancy, Paroxysmal atr...	ORPHA:3282
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Congestive heart failure, Incr...	OMIM:617303
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Bone Dysplasia, Lethal Holmgren Type	Nausea and vomiting, Hepatomegaly, Diarrhea, Weight loss, Hypertrophic cardiomyopathy, Failure to...	ORPHA:1842
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Supernumerary nipple, Obesity, Attention deficit hyperactivity d...	ORPHA:1001
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Pica, Obesity, Aggressive behavior	OMIM:620191
Mucopolysaccharidosis Type 2	Hepatomegaly, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Cardiomyopathy, Hypertension, Hip...	ORPHA:580
Fanconi-Bickel Syndrome	Hepatomegaly, Hypouricemia, Poor appetite, Intrahepatic cholestasis, Abdominal distention, Hypoph...	OMIM:227810
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Decreased circulating cortisol level, Neonatal hypoglycemia, Vomiting, Premature adrenarche, Hypo...	ORPHA:90794
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Hypoglycemia, Feeding difficulties in infancy, Splenomegaly, Concentric hypertrophi...	OMIM:252010
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Acute Liver Failure	Gastrointestinal hemorrhage, Shock, Skin rash, Hypoglycemia, Jaundice, Diarrhea, Hepatitis, Hepat...	ORPHA:90062
Wilson Disease	Acute hepatic failure, Hepatomegaly, Splenomegaly, Jaundice, Increased body weight, Hepatitis, We...	ORPHA:905
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Glucose intolerance	OMIM:309620
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m...	ORPHA:3464
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa...	ORPHA:75565
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ...	OMIM:610199
Down Syndrome	Decreased fertility, Obesity, Macroglossia, Type II diabetes mellitus, Umbilical hernia, Hypothyr...	ORPHA:870
Yellow Fever	Increased circulating interleukin 6 concentration, Elevated circulating creatine kinase concentra...	ORPHA:99829
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysph...	ORPHA:98794
Paroxysmal Nocturnal Hemoglobinuria 2	Diarrhea, Abdominal pain	OMIM:615399
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Pulmonary embolism, Vomiting, Hypocalcemia, A...	ORPHA:94093
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Small for gestational age, Portal hypertension, Abdominal pain, Conjugated hyperbil...	ORPHA:567983
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Feeding difficulties in infancy, Dilated cardiomyopathy, Hypoglycemic ...	OMIM:231530
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anisocytosis, Anemia ...	OMIM:224120
Myotonia Congenita, Autosomal Recessive	Skeletal muscle hypertrophy, Muscle hypertrophy of the lower extremities, Dysphagia	OMIM:255700
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Decreased mitochondrial complex III activity in liver tissue, Hypoglycemia, Cho...	OMIM:124000
Short Stature, Microcephaly, And Endocrine Dysfunction	Truncal obesity, Insulin resistance, Diabetes mellitus	OMIM:616541
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Diabetes mellitus, Small for gestational age, Steatorrhea	OMIM:615935
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Failure to thrive, Pericarditis, Hypergonadotropic hypogonadism, Feeding difficulti...	OMIM:212065
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Abdominal distention, Diarrhea, Steatorrhea, Vomiting, Hypo...	ORPHA:71
Chromosome 16P13.3 Deletion Syndrome, Proximal	Feeding difficulties in infancy, Failure to thrive, Obesity	OMIM:610543
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension, Adrenal hyperplasia, Hypoglycemia, Adrenogenital syndrome	OMIM:201910
Marbach-Schaaf Neurodevelopmental Syndrome	Torticollis, Aggressive behavior, Obesity, Attention deficit hyperactivity disorder, Recurrent ha...	OMIM:619680
Inhalational Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Constipation	ORPHA:254504
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated circulating C-reactive protein concentration, Secretory diarrhea, He...	OMIM:619573
Radio-Tartaglia Syndrome	Impulsivity, Aggressive behavior, Precocious puberty, Obesity, Attention deficit hyperactivity di...	OMIM:619312
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity	OMIM:618821
Erythermalgia, Primary	Diarrhea, Xerostomia, Constipation	OMIM:133020
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Acanthocyt...	OMIM:300842
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Increased total...	ORPHA:90037
Ethylmalonic Encephalopathy	Diarrhea, Failure to thrive	ORPHA:51188
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Jaundice, Hyperammonemia, Hyperprolinemia...	OMIM:615751
Bardet-Biedl Syndrome 1	Diabetes mellitus, Insulin resistance, Obesity, Truncal obesity, Abdominal obesity	OMIM:209900
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Failure to th...	ORPHA:261197
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, Hypothyroidism, Lymphadenopathy, T ly...	OMIM:607944
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Retinitis Pigmentosa 51	Obesity	OMIM:613464
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Diarrhea, Atopic dermatitis, Hypochromic microcytic...	ORPHA:3240
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Abdominal pain, Congestive hea...	OMIM:301500
Aarskog-Scott Syndrome	Inguinal hernia, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Crypto...	OMIM:305400
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Unilateral cryptorchidism, Overgrowth, Tall stature, Large for gestational age	ORPHA:137634
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Psoriasiform dermatitis, Diarrhea, Abnormal T cell subset distribution,...	ORPHA:221139
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior	ORPHA:309246
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Hepatomegaly, Hypoglycemia, Abdominal pain, Jaundice, Malnutrition, ...	OMIM:229600
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi...	OMIM:194380
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Hepatic steatosis, Vomiting, Hypoglycemia	OMIM:201450
Pde4D Haploinsufficiency Syndrome	Hypospadias, Abnormal dental enamel morphology, Cryptorchidism, Obesity, Elevated circulating par...	ORPHA:439822
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepa...	OMIM:606003
Smith-Magenis Syndrome	Failure to thrive in infancy, Precocious puberty, Hypothyroidism, Obesity, Self-injurious behavio...	ORPHA:819
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenop...	ORPHA:79292
Marbach-Rustad Progeroid Syndrome	Insulin resistance, Poor appetite	OMIM:619322
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Orthostatic Hypotension 1	Orthostatic hypotension, Atrial fibrillation, Reduced circulating prolactin concentration, Increa...	OMIM:223360
Carney Triad	Nausea and vomiting, Gastrointestinal hemorrhage, Tachycardia, Anorexia, Abdominal pain, Mediasti...	ORPHA:139411
Analbuminemia	Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu...	OMIM:616000
Yao Syndrome	Abdominal pain, Diarrhea, Xerostomia, Weight loss	OMIM:617321
Rapadilino Syndrome	Diarrhea, Feeding difficulties	OMIM:266280
Werner Syndrome	Insulin resistance, Slender build, Type II diabetes mellitus	ORPHA:902
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233710
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Neutral Lipid Storage Myopathy	Diabetes mellitus, Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb m...	ORPHA:98908
Atypical Werner Syndrome	Skeletal muscle atrophy, Fasting hyperinsulinemia, Premature ovarian insufficiency, Abnormal circ...	ORPHA:79474
Rat-Bite Fever	Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Parotitis, Skin rash, Erythema ...	ORPHA:31205
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Acne, Hypoglycemia, Precocious puberty, In...	ORPHA:786
White-Sutton Syndrome	Hyperactivity, Facial hypotonia, Congenital diaphragmatic hernia, Aggressive behavior, Obesity, S...	OMIM:616364
Porphyria, Acute Intermittent	Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting, Nausea	OMIM:176000
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Pancreatic Agenesis 1	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insufficiency	OMIM:260370
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias...	OMIM:611881
Holoprosencephaly	Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Hypoglycemia, Feeding difficulties...	ORPHA:2162
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Gastroesophageal r...	ORPHA:2414
Histiocytosis-Lymphadenopathy Plus Syndrome	Episcleritis, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone ...	OMIM:602782
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Erythrocytosis, Familial, 1	Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Bloom Syndrome	Diabetes mellitus, Small for gestational age, Poor appetite, Insulin resistance, Abdominal obesit...	ORPHA:125
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Myositis, Pericarditis, Skin rash, G...	ORPHA:809
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Glucose intolerance, Failure to thrive, Impaired glucose tolerance	OMIM:614407
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Abdom...	ORPHA:729
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Neonatal hypoglycemia, Large for gestational age, Protuberant abdomen, Decreased circulating IgA ...	ORPHA:457485
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Sinusitis, Dysgammaglobulinemia, Diarrh...	OMIM:251260
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Acute hepatic failure, Portal ...	ORPHA:131
Angelman Syndrome	Macroglossia, Hyperactivity, Paroxysmal bursts of laughter, Obesity	OMIM:105830
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hypoglycemia, Precocious puberty, Obesity, Hepatosplenomegaly, Chronic constipation...	OMIM:301066
Autosomal Recessive Spastic Paraplegia Type 11	Overweight, Obesity, Generalized limb muscle atrophy, Distal amyotrophy, Dysphagia, Lower limb mu...	ORPHA:2822
Brody Disease	Skeletal muscle hypertrophy, Flexion contracture	OMIM:601003
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl...	OMIM:307030
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Occipital Horn Syndrome	Chronic diarrhea, Orthostatic hypotension, Decreased circulating ceruloplasmin concentration, Dec...	OMIM:304150
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Hypoglycemia	OMIM:610006
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Diarrhea, Asymmetric septal hypertrophy	OMIM:252920
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Visceral Myopathy 1	Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal...	OMIM:155310
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Lymphadenopathy, Neutro...	OMIM:617827
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Abnormal retinal vascular morphology, Depression, Macular edema, Irrita...	ORPHA:247691
Basilicata-Akhtar Syndrome	Precocious puberty, Feeding difficulties, Chronic constipation, Gastroesophageal reflux, Neonatal...	OMIM:301032
Carpenter Syndrome 1	Omphalocele, External genital hypoplasia, Precocious puberty, Cryptorchidism, Obesity, Camptodact...	OMIM:201000
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Anorexia, Neoplasm of the thymus, Pituitary corticotropic...	ORPHA:99889
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein con...	ORPHA:116
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal dental enamel morphology, Obesity	ORPHA:2180
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Anemia, Hypocalcemia, Failure to thrive,...	OMIM:259700
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Elevated circulating alpha-f...	ORPHA:420741
Silver-Russell Syndrome 1	Small for gestational age, Decreased response to growth hormone stimulation test, Fasting hypogly...	OMIM:180860
White-Sutton Syndrome	Ventral hernia, Hyperactivity, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia...	ORPHA:468678
Chromosome 3Q29 Duplication Syndrome	Obesity	OMIM:611936
Familial Mediterranean Fever	Acute hepatic failure, Myocardial infarction, Osteoarthritis, Gastrointestinal infarctions, Abdom...	ORPHA:342
Hemihyperplasia, Isolated	Skeletal muscle hypertrophy	OMIM:235000
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ...	OMIM:314050
Infant Botulism	Hyponatremia, Cardiac arrest, Anorexia, Abdominal pain, Bowel incontinence, Xerostomia, Hypertens...	ORPHA:178478
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypop...	OMIM:612541
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Hypothyroidism, Recurrent hypoglycemia, Small for gestational age, Delayed puberty	OMIM:616817
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar...	ORPHA:91354
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia, Hypoglycemia	OMIM:608688
Hyperlipoproteinemia, Type I	Nausea, Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Episodic abdominal pain, Lact...	OMIM:238600
Webb-Dattani Syndrome	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Cryptorchid...	OMIM:615926
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abdominal pain, Abnormal erythrocyte morphology, Splenomegaly,...	ORPHA:288
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Splenomegaly, Sea-blue histiocytosis, Dysphagia, Failure to thrive	OMIM:230600
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Abdominal pain, Splenomegaly, Leukocytosis, Splenic...	OMIM:603903
Isolated Biliary Atresia	Hepatomegaly, Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Atretic gal...	ORPHA:30391
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e...	ORPHA:652
Leptospirosis	Nausea and vomiting, Hepatomegaly, Pericarditis, Skin rash, Anorexia, Abdominal pain, First degre...	ORPHA:509
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating...	ORPHA:99832
Pancreatic And Cerebellar Agenesis	Failure to thrive, Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Anemia,...	OMIM:609069
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Lipodystrophy, Familial Partial, Type 7	Impaired glucose tolerance, Small for gestational age, Insulin resistance, Diarrhea, Feeding diff...	OMIM:606721
Intellectual Developmental Disorder, Autosomal Dominant 45	Skin rash, Heart murmur, Pulmonic stenosis, Slender build, Neonatal hypoglycemia	OMIM:617600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, D...	OMIM:235400
Silver-Russell Syndrome Due To A Point Mutation	Feeding difficulties in infancy, Hypothyroidism, Small for gestational age, Hypoglycemia	ORPHA:397590
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Overgrowth, Obesity, Aggressive behavior	OMIM:620250
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Hypoglycemia, Atrial f...	ORPHA:137675
Chromosome 1P36 Deletion Syndrome, Distal	Abnormal external genitalia, Camptodactyly of finger, Hypospadias, Aggressive behavior, Cryptorch...	OMIM:607872
Hyperprolinemia Type 2	Diarrhea, Feeding difficulties, Dysphagia, Abdominal pain	ORPHA:79101
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Nausea and vom...	ORPHA:727
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Eczema, Abdominal distention, Increased circulating IgE l...	OMIM:619472
Congenital Disorder Of Glycosylation, Type Id	Diarrhea, Failure to thrive, Vomiting	OMIM:601110
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Skin rash, Diarrhea, Vasculitis, Increased serum zinc	OMIM:601979
Reynolds Syndrome	Calcinosis, Hepatomegaly, Gastrointestinal hemorrhage, Erythema nodosum, Splenomegaly, Jaundice, ...	OMIM:613471
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
3-Methylglutaconic Aciduria, Type Viii	Jaundice, Neutropenia, Feeding difficulties, Bradycardia, Dysphagia, Neonatal death, Failure to t...	OMIM:617248
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Abdominal pain, Splenomegaly, Mediast...	ORPHA:91138
Melas	Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Vomi...	ORPHA:550
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom...	OMIM:259720
Complement Component 5 Deficiency	Intractable diarrhea	OMIM:609536
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hepatomegaly, Small for gestational age, Increased mean platelet volume, Sp...	OMIM:222470
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Neonatal hypoglycemia	OMIM:608624
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ...	OMIM:230800
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension	OMIM:620125
Juvenile Polyposis Syndrome	Abdominal pain, Diarrhea, Hematochezia, Hypokalemia, Hypoalbuminemia, Failure to thrive, Anemia	OMIM:174900
Dicarboxylic Aminoaciduria	Fasting hypoglycemia	OMIM:222730
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Chronic diarrhea, Cachexia, Steatorrhea	ORPHA:3217
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Self-injurious behavior, Micropenis, Increased body weight, Aggressive behavior	OMIM:300860
Lassa Fever	Nausea and vomiting, Shock, Abdominal pain, Jaundice, Diarrhea, Increased circulating IgM level, ...	ORPHA:99824
Bardet-Biedl Syndrome 12	Hypogonadism, Vaginal atresia, Hydrometrocolpos, Obesity	OMIM:615989
Myotonia Permanens	Skeletal muscle hypertrophy, Generalized muscle hypertrophy, Dysphagia	ORPHA:99735
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia	OMIM:607398
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb...	OMIM:277900
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Diarrhea, Asymmetric septal hypertrophy, Hepatomegaly	OMIM:252900
Carney Complex	Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova...	ORPHA:1359
Nodular Non-Suppurative Panniculitis	Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss, Panniculitis, Infla...	ORPHA:33577
Nk-Cell Enteropathy	Abdominal pain, Diarrhea, Hematochezia, Constipation, Gastroesophageal reflux	ORPHA:263665
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome...	OMIM:619463
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Lymphopenia, Hepatomegaly, Decreased proportion of CD8-positive T cells, Increased circulating Ig...	ORPHA:508533
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Achalasia, Decreased response to growth hormone stimulation test, Fasting hypoglycemia	ORPHA:436174
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil...	OMIM:301068
Turner Syndrome Due To Structural X Chromosome Anomalies	High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the larg...	ORPHA:99413
Mosaic Monosomy X	High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the larg...	ORPHA:99228
Monosomy X	High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the larg...	ORPHA:99226
Turner Syndrome	High, narrow palate, Gastrointestinal inflammation, Glucose intolerance, Inflammation of the larg...	ORPHA:881
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Abdominal dist...	OMIM:235255
Pulmonary Non-Tuberculous Mycobacterial Infection	Diarrhea, Weight loss	ORPHA:411703
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Lacunar stroke, Hypocalcemi...	OMIM:618440
Tako-Tsubo Cardiomyopathy	Vomiting, Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricula...	ORPHA:66529
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Feeding difficulties, Vomiting, Gastroesophag...	ORPHA:17
Lissencephaly, X-Linked, 2	Feeding difficulties in infancy, Diarrhea	OMIM:300215
Den Hoed-De Boer-Voisin Syndrome	Overweight, Obesity, Dysphagia, Agitation, Decreased body weight, Enamel hypoplasia, Abnormal rep...	OMIM:619229
Meningococcal Meningitis	Shock, Projectile vomiting, Skin rash, Elevated circulating C-reactive protein concentration, Ano...	ORPHA:33475
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Osteootohepatoenteric Syndrome	Increased intestinal transit time, Abdominal pain, Microvesicular hepatic steatosis, Secretory di...	OMIM:619377
Zttk Syndrome	Aortic regurgitation, Absent gallbladder, Feeding difficulties in infancy, Chronic diarrhea, Feed...	OMIM:617140
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Momo Syndrome	Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Tall stature	ORPHA:2563
Non-Acquired Panhypopituitarism	Pituitary dwarfism, Ectopic posterior pituitary, Short stature, Decreased response to growth horm...	ORPHA:90695
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic...	OMIM:618641
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Failure to thrive in infancy, Gastroparesis, Transient ischemic attack, Feedi...	ORPHA:500150
Neuroblastoma, Susceptibility To, 1	Abdominal mass, Abdominal pain, Diarrhea, Weight loss, Hypertension, Failure to thrive, Anemia	OMIM:256700
Scorpion Envenomation	Bundle branch block, Increased circulating NT-proBNP concentration, Vomiting, Prominent U wave, H...	ORPHA:466677
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con...	OMIM:614098
Niemann-Pick Disease, Type C2	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Dysphagia, Sea-blue ...	OMIM:607625
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Decreased CD4:CD8 ratio, ...	OMIM:608233
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Obesity	ORPHA:86816
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Splenomegaly, Diarrhea, Asymmetric septal hypertrophy, Dysphagia	OMIM:252930
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Silver-Russell Syndrome 2	Neonatal hypoglycemia	OMIM:618905
Sotos Syndrome	Increased body weight, Feeding difficulties, Glucose intolerance, Gastroesophageal reflux, Otitis...	OMIM:117550
Cockayne Syndrome Type 1	Hepatomegaly, Diarrhea, Uveitis, Hypertension, Conjunctivitis, Increased blood urea nitrogen, Mal...	ORPHA:90321
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Hypoglycemia	OMIM:229700
Histidinuria-Renal Tubular Defect Syndrome	Hypoglycemia	ORPHA:2158
Dysbetalipoproteinemia	Diabetes mellitus, Hypothyroidism, Obesity	ORPHA:412
Atelis Syndrome 2	High palate, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Ga...	OMIM:620185
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Diarrhea, Colitis, Recurrent aphthous stomatitis, Abdominal pain	OMIM:613960
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold	OMIM:221900
Cerebrotendinous Xanthomatosis	Cholelithiasis, Chronic diarrhea, Hypothyroidism, Prolonged neonatal jaundice	ORPHA:909
Cog8-Cdg	Failure to thrive, Hypoglycemia	ORPHA:95428
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB...	OMIM:232300
Inflammatory Skin And Bowel Disease, Neonatal, 1	Failure to thrive, Bloody diarrhea	OMIM:614328
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Abdominal distention, Gastroesophageal reflux, Hypoglycemia, Feeding difficulties	OMIM:620275
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Dysphagia, Failure...	OMIM:616457
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Splenomegaly, Mediast...	ORPHA:379
Thyrotoxic Periodic Paralysis	Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Abnormal muscle fiber morpholog...	ORPHA:79102
Steinert Myotonic Dystrophy	Diabetes mellitus, Intestinal pseudo-obstruction, Decreased response to growth hormone stimulatio...	ORPHA:273
Kawasaki Disease	Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Myocarditis, Cervical lymphadenopat...	ORPHA:2331
Intellectual Developmental Disorder, Autosomal Dominant 29	Hyperactivity, Aggressive behavior, Cryptorchidism, Obesity, Self-injurious behavior, Attention d...	OMIM:616078
Peripartum Cardiomyopathy	Diabetes mellitus, Obesity, Abdominal pain	ORPHA:563
Stevens-Johnson Syndrome	Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Abnormality of neutrophi...	ORPHA:36426
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Small scrotum, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavio...	OMIM:620330
Distal Deletion 12Q	Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Unilateral cryptorchidism, Maturi...	ORPHA:96149
Delayed Puberty, Self-Limited	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula...	OMIM:619613
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Leukopenia, Tubulointerstitial...	ORPHA:289390
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Hepatomegaly, Bundle branch block, Hypoglycemia, Splenomegaly, Increased c...	ORPHA:373
Multiple Endocrine Neoplasia Type 2	Paraganglioma of head and neck, Hypercalcemia, Thyroid C cell hyperplasia, Abdominal distention, ...	ORPHA:653
Essential Thrombocythemia	Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal platelet morphology, Acu...	ORPHA:3318
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui...	ORPHA:64744
Mercury Poisoning	Tachycardia, Anorexia, Episodic abdominal pain, Hypertension, Hypokalemia, Interstitial pneumonit...	ORPHA:330021
1P21.3 Microdeletion Syndrome	Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation	ORPHA:293948
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Interstitial pneumonitis, Vasculitis in the skin, Anemia	OMIM:620296
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ...	OMIM:608710
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Left axis deviation, Congestive heart failure, ST segment el...	OMIM:261740
Gitelman Syndrome	Prolonged QT interval, Abdominal pain, Ventricular tachycardia, Hypokalemia, Increased circulatin...	OMIM:263800
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblast...	ORPHA:2575
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Intestinal pseudo-obstruction, Splenomegaly, Diarrhea, Recurrent pneumonia, Congest...	OMIM:309900
Cohen Syndrome	Small for gestational age, Facial hypotonia, Decreased response to growth hormone stimulation tes...	OMIM:216550
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Chronic myelogenous leukemia, We...	ORPHA:71493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp...	OMIM:614643
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Lower limb hypertonia, Obesity, Limb hypertonia	OMIM:617296
Neutral Lipid Storage Disease With Ichthyosis	Obesity, Myopathy, Shoulder girdle muscle weakness, Increased intramyocellular lipid droplets, EM...	ORPHA:98907
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Vomiting, Male hypogonadism, Hype...	ORPHA:91347
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein...	OMIM:616030
Pauci-Immune Glomerulonephritis	Glomerulonephritis, Abdominal pain, Elevated circulating creatinine concentration, Crescentic glo...	ORPHA:93126
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Abnormality of the pineal gland, Aggressive behavior, Tongue thrusting, Obesity, Macroglossia, Co...	ORPHA:369950
Shashi-Pena Syndrome	Feeding difficulties in infancy, Hypoglycemia	OMIM:617190
Wolfram Syndrome 1	Diabetes mellitus, Diabetes insipidus, Hypothyroidism, Dysphagia, Testicular atrophy	OMIM:222300
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl...	ORPHA:77293
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Abdominal distention, Secretory diarrhea, Hypochloremia, Hypokalemia, Hyperaldoster...	OMIM:214700
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Truncal obesity, Hypospadias, Supernumerary nipple	ORPHA:3224
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Abdominal distention, Pulmonary lymphang...	ORPHA:1655
Rothmund-Thomson Syndrome	Calcinosis, Aplastic anemia, Small for gestational age, Skin rash, Telangiectasia of the skin, Na...	ORPHA:2909
Combined Oxidative Phosphorylation Defect Type 39	Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Vomiting, Bradycardia, Neon...	ORPHA:565624
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Neonatal hypoglycemia, Thrombocytopenia, Dysphagia	ORPHA:572798
Paroxysmal Cold Hemoglobinuria	Nausea and vomiting, Diarrhea	ORPHA:90035
Rothmund-Thomson Syndrome Type 1	Calcinosis, Aplastic anemia, Small for gestational age, Diarrhea, Functional abnormality of the g...	ORPHA:221008
Specific Granule Deficiency 2	Intractable diarrhea, Failure to thrive	OMIM:617475
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:618183
Rabin-Pappas Syndrome	Overgrowth, Obesity, Failure to thrive in infancy, Feeding difficulties	OMIM:620155
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Encopresis, Gastroesophageal reflux, Obesity	OMIM:618443
Juvenile Polyposis Of Infancy	Refractory anemia, Gastrointestinal hemorrhage, Cachexia, Abdominal pain, Diarrhea, Hematochezia,...	ORPHA:79076
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin resistance	ORPHA:90154
Ataxia-Oculomotor Apraxia 4	Obesity	OMIM:616267
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Diarrhea, Steatorrhea, Neutropenia, Fai...	OMIM:617941
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M...	ORPHA:309854
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Elbow flexion contracture, Obesity	OMIM:618493
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Chron...	ORPHA:90033
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ...	ORPHA:324636
Behçet Disease	Myositis, Anorexia, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Abd...	ORPHA:117
Japanese Encephalitis	Hyponatremia, Neutrophilia, Anorexia, Abdominal pain, Diarrhea, Increased circulating IgM level, ...	ORPHA:79139
Prader-Willi Syndrome Due To Translocation	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, External ge...	ORPHA:177907
Plague	Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, Inflammation o...	ORPHA:707
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia, Feeding difficulties	OMIM:616095
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Pneumonia, Abdominal pain, Vomiting, Hypotension, Mastocytosis, Arrhy...	ORPHA:2135
Cocaine Intoxication	Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,...	ORPHA:90068
Nestor-Guillermo Progeria Syndrome	Lipoatrophy, Failure to thrive, Flexion contracture, Decreased serum leptin	OMIM:614008
Acrokeratoelastoidosis Of Costa	Granulomatosis	ORPHA:38
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Hypoglycemia, Angina pectoris, Cachexia, Telangiectasia, Intracra...	ORPHA:109
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Pierson Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic...	OMIM:609049
Satoyoshi Syndrome	Skeletal muscle hypertrophy, Hypoplasia of the uterus, Amenorrhea	OMIM:600705
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Gastroesophageal reflux, Protuberant ab...	OMIM:230900
African Trypanosomiasis	Conjunctivitis, Vomiting, Iritis, Nausea, Hepatomegaly, Abnormal EKG, Abnormality of the endocrin...	ORPHA:3385
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Colitis, Steatorrhea, Exocrine pancr...	ORPHA:309031
Bardet-Biedl Syndrome 20	Bilateral cryptorchidism, Male hypogonadism, Micropenis, Obesity	OMIM:619471
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance	ORPHA:90153
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Small for gestational age, Hypoglycemia, Microvesicular hepatic steatosis, Hyperammonemia, Feedin...	OMIM:220111
Metaphyseal Chondrodysplasia, Schmid Type	Obesity	ORPHA:174
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Unsteady gait, A...	ORPHA:637
Microcephalic Primordial Dwarfism, Dauber Type	Bilateral breast hypoplasia, Obesity, Primary amenorrhea	ORPHA:319675
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Hypoglycemia, Decreased response to growth hormone stimulation test, Telangiectasia of the skin, ...	OMIM:616007
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Feeding difficulties in infancy, Diarrhea, Elevated circula...	OMIM:223900
Neuropathy, Hereditary Sensory And Autonomic, Type V	Diarrhea, Constipation	OMIM:608654
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo...	OMIM:614842
Acquired Von Willebrand Syndrome	Normocytic anemia, Gastrointestinal hemorrhage, Refractory anemia, Aortic regurgitation, Epistaxi...	ORPHA:99147
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Inguinal hernia, Supernumerary nipple, Cryptorchidism, Obesity, Micropenis, Abnormal repetitive m...	OMIM:618653
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased circulating luteinizing hormone level, Decreased circulating follicle stimulating hormo...	OMIM:614897
Desbuquois Dysplasia 1	Obesity	OMIM:251450
Young-Onset Parkinson Disease	Diarrhea, Constipation, Nausea, Gastroparesis	ORPHA:2828
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Tachycardia, Skin rash, Diarrhea, Dilated cardiomyopathy, Vomiting, Left ventricula...	OMIM:618321
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Small for...	OMIM:601678
Momo Syndrome	Overgrowth, Obesity	OMIM:157980
Microvillus Inclusion Disease	Abdominal distention, Diarrhea	ORPHA:2290
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Recurrent pneumonia, Chronic diarrhea, Cheilitis, Failure...	ORPHA:158668
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Nipah Virus Disease	Nausea and vomiting, Hypotension, Infectious encephalitis, Anorexia	ORPHA:99825
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Diarrhea, Small for gestational age, Weight loss	ORPHA:424
Radiation Proctitis	Hematochezia, Intestinal obstruction, Diarrhea, Tenesmus	ORPHA:70475
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased...	OMIM:228300
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Glucose intolerance, Failure to thrive, Impaired glucose tolerance	OMIM:610131
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Cohen Syndrome	Cryptorchidism, Failure to thrive in infancy, Obesity, Delayed puberty	ORPHA:193
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice...	OMIM:615512
3Q29 Microduplication Syndrome	Camptodactyly of toe, Obesity	ORPHA:251038
Poliomyelitis	Anorexia, Paralytic ileus, Hypertension, Hypovolemic shock, Vomiting, Absent tonsils, Dysphagia, ...	ORPHA:2912
Kabuki Syndrome	Hypoplasia of penis, Hypospadias, Congenital diaphragmatic hernia, Precocious puberty, Cryptorchi...	ORPHA:2322
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi...	ORPHA:1435
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Obesity, Type I diabetes mellitus	OMIM:619269
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis	OMIM:619183
Kabuki Syndrome 2	Feeding difficulties in infancy, Pulmonic stenosis, Decreased body weight, Recurrent otitis media...	OMIM:300867
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Abdom...	ORPHA:244242
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Obesity	OMIM:618395
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Gout, Tubulointerstitial nephritis, Hypertension, ...	OMIM:174000
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Chops Syndrome	Constipation, Gastroesophageal reflux, Obesity, Gastroparesis	OMIM:616368
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co...	OMIM:614839
Acute Intermittent Porphyria	Hyponatremia, Nausea and vomiting, Tachycardia, Abdominal pain, Abdominal distention, Diarrhea, I...	ORPHA:79276
Meconium Ileus	Chronic diarrhea, Meconium ileus	OMIM:614665
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Splenomegaly, Mediastinal lymp...	OMIM:181000
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Diabetes mellitus, Small scrotum, External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism	OMIM:614231
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Abdominal distention, Hepatitis, Bloody dia...	ORPHA:436252
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Aortic valve stenosis, Small for gestational age, Hypoglycemia, Feeding difficulties	OMIM:614501
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Decreased serum insulin-like growth factor 1, Ectopi...	OMIM:620303
Sarcoidosis	Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Leukopenia, Tubulointersti...	ORPHA:797
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Aggressive behavior, Obesity, Self-injurious behavior, Truncal obesity, Attention deficit hyperac...	ORPHA:466950
Alexander Disease	Nausea and vomiting, Diabetes mellitus, Bowel incontinence, Sudden cardiac death, Precocious pube...	ORPHA:58
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Hypertension, Per...	OMIM:263200
Joubert Syndrome 8	Obesity	OMIM:612291
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Cerebral Visual Impairment	Intracranial hemorrhage, Ischemic stroke, Infectious encephalitis, Neonatal hypoglycemia	ORPHA:447788
Mucopolysaccharidosis, Type Iiid	Hepatomegaly, Splenomegaly, Diarrhea, Dysphagia, Asymmetric septal hypertrophy, Mitral regurgitat...	OMIM:252940
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Hypocalcemic se...	OMIM:612301
Intellectual Developmental Disorder, Autosomal Dominant 57	Diarrhea, Feeding difficulties, Constipation, Intermittent diarrhea, Failure to thrive	OMIM:618050
Angioedema, Hereditary, 1	Diarrhea, Vomiting, Abdominal pain	OMIM:106100
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Skeletal muscle atrophy, Limb joint contracture, Flexion contracture, Truncal obesity, Lower limb...	OMIM:301072
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Sinus tachycardia, Elevated circulating creatine kinase concentration, Hyp...	ORPHA:466650
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, Abnormal ci...	ORPHA:79277
Amyloidosis, Hereditary, Transthyretin-Related	Episodic vomiting, Diarrhea, Constipation	OMIM:105210
19P13.13 Microdeletion Syndrome	Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult...	ORPHA:357001
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration,...	ORPHA:355
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Delayed p...	ORPHA:77261
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Hypogonadotropic hypogonadism, ...	OMIM:614837
Prolactinoma	Nausea and vomiting, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating gro...	ORPHA:2965
Aromatic L-Amino Acid Decarboxylase Deficiency	Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea	OMIM:608643
Hennekam Syndrome	Splenomegaly, Pulmonary lymphangiectasia, Decreased circulating antibody level, Lymphadenopathy, ...	ORPHA:2136
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	OMIM:201750
Hydroxykynureninuria	Stomatitis, Abnormal circulating tryptophan concentration, Tachycardia, Hypotension	ORPHA:79155
Familial Gestational Hyperthyroidism	Diarrhea, Weight loss	ORPHA:99819
Hereditary Angioedema Type 1	Abdominal pain, Diarrhea, Vomiting, Dysphagia, Nausea	ORPHA:100050
Perlman Syndrome	Congenital diaphragmatic hernia, Large for gestational age, Cryptorchidism, Hypoplasia of the abd...	OMIM:267000
Retinal Dystrophy With Or Without Macular Staphyloma	Truncal obesity	OMIM:617547
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Congenital adrenal hypoplasia, Decreased circulating luteinizing hormone level	OMIM:202150
Achondroplasia	Obesity	ORPHA:15
Alternating Hemiplegia Of Childhood	Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointestinal dysmotility, Diarrhea...	ORPHA:2131
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Tics, Compulsive behaviors, Micropenis, Abnormal repetitive mannerisms, Restrictiv...	OMIM:619475
Myhre Syndrome	Small for gestational age, Cryptorchidism, Generalized muscle hypertrophy, Obesity, Skeletal musc...	OMIM:139210
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Feeding difficulties, Hypertension, Hypokalemia, Gastroes...	OMIM:617913
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Gastrointestinal dysmotility, Obesity, Feeding difficulties, Gastroesophageal reflux, Constipatio...	ORPHA:466943
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Elevated circulat...	OMIM:229070
Cystic Fibrosis	Hepatomegaly, Meconium ileus, Diarrhea, Recurrent pneumonia, Ileus, Biliary cirrhosis, Bronchiect...	OMIM:219700
Rothmund-Thomson Syndrome Type 2	Calcinosis, Aplastic anemia, Small for gestational age, Diarrhea, Functional abnormality of the g...	ORPHA:221016
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Diarrhea, Low-to-n...	OMIM:241200
Menkes Disease	Gastrointestinal hemorrhage, Nausea and vomiting, Osteomyelitis, Hypoglycemia, Feeding difficulti...	ORPHA:565
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Retinitis Pigmentosa 74	Obesity	OMIM:616562
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia	OMIM:258360
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Truncal obesity, Abnormality of female external genitalia, Attention deficit ...	ORPHA:2637
Primary Fanconi Renotubular Syndrome	Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Glycosuria, Hypokalemi...	ORPHA:3337
Generalized Pustular Psoriasis	Overweight, Obesity	ORPHA:247353
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Decreased circulating follicle stimulating hormone concentration, Hypogonadotropic hypogonadism, ...	OMIM:619761
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Hypospadias, Precocious puberty, Truncal obesity, Type II diabetes mellitus, Enamel hypoplasia	OMIM:210720
Ogden Syndrome	Maternal diabetes, Cardiomegaly, Microvesicular hepatic steatosis, Ventricular tachycardia, Iron ...	OMIM:300855
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Hypoglycemia	OMIM:620224
Cystinosis, Nephropathic	Hyponatremia, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysp...	OMIM:219800
Multiple Endocrine Neoplasia, Type Iib	Disproportionate tall stature, Failure to thrive in infancy, Diarrhea, Constipation	OMIM:162300
Mednik Syndrome	Diarrhea, Cholestasis, Hepatic fibrosis, Cirrhosis, Increased circulating very long-chain fatty a...	OMIM:609313
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Congestive heart failu...	ORPHA:31826
Chromosome 5Q12 Deletion Syndrome	Decreased body mass index, Hypotension	OMIM:615668
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Micropenis, Decreased testicular...	OMIM:619321
Glutaryl-Coa Dehydrogenase Deficiency	Subdural hemorrhage, Retinal hemorrhage, Feeding difficulties, Fasting hypoglycemia, Dysphagia	ORPHA:25
X-Linked Dominant Chondrodysplasia Punctata	Neonatal hypoglycemia, Erythroderma	ORPHA:35173
Oculodentodigital Dysplasia	Arrhythmia, Hypoglycemia	ORPHA:2710
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Cholesterol gallstones, Obesity	ORPHA:209902
Bone Marrow Failure Syndrome 5	Hypogonadism, Testicular atrophy	OMIM:618165
Turcot Syndrome With Polyposis	Abdominal pain, Diarrhea, Pituitary adenoma, Hematochezia, Melena, Vomiting, Constipation, Thyroi...	ORPHA:99818
Perry Syndrome	Hypotension, Weight loss	ORPHA:178509
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cry...	ORPHA:353281
Cerebrotendinous Xanthomatosis	Angina pectoris, Myocardial infarction, Diarrhea, Abnormal circulating cholesterol concentration,...	OMIM:213700
Primrose Syndrome	Restlessness, Hip contracture, Skeletal muscle atrophy, Diabetes mellitus, Hypergonadotropic hypo...	OMIM:259050
Omphalocele Syndrome, Shprintzen-Goldberg Type	Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux	ORPHA:3164
Myhre Syndrome	Abnormal penis morphology, Inguinal hernia, Hypospadias, External genital hypoplasia, Femoral her...	ORPHA:2588
Serotonin Syndrome	Diarrhea, Hepatic failure, Nausea	ORPHA:43116
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hyperactive...	OMIM:607364
Norrie Disease	Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A...	ORPHA:649
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Distal Renal Tubular Acidosis	Hemolytic anemia, Poor appetite, Diarrhea, Hypokalemia, Vomiting, Constipation, Failure to thrive	ORPHA:18
Costello Syndrome	Hypoglycemia, Poor suck, Hypertrophic cardiomyopathy, Pulmonic stenosis, Arrhythmia, Failure to t...	OMIM:218040
17Q24.2 Microdeletion Syndrome	Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Aggressive b...	ORPHA:529962
X-Linked Intellectual Disability, Snyder Type	Decreased muscle mass, Hypospadias, Cryptorchidism, Disproportionate tall stature, Abnormality of...	ORPHA:3063
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Inguinal hernia, Anterior pituitary hypoplasia, Elbow...	OMIM:181450
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Decreased testicular size, Hyperactivity, Small scrotum, Hypospadias, Cryptorchidism, Obesity, Ma...	OMIM:309580
Combined Oxidative Phosphorylation Deficiency 15	Inguinal hernia, Obesity	OMIM:614947
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Precocious puberty, Obesity	ORPHA:369837
Neurooculorenal Syndrome	Decreased circulating cortisol level, Ectopic posterior pituitary, Conjugated hyperbilirubinemia,...	OMIM:620305
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Hypospadias, Abnormal dental enamel morphol...	ORPHA:567
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Brain abscess, Hepatic arteriovenous malformation, Gastrointestinal hem...	ORPHA:2929
Lesch-Nyhan Syndrome	Self-injurious behavior, Testicular atrophy, Dysphagia	OMIM:300322
White-Kernohan Syndrome	Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Rectovaginal fistula	OMIM:619426
Carpenter Syndrome 2	Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, Obesity, Knee flexion contracture...	OMIM:614976
Chikungunya	Maculopapular exanthema, Skin rash, Epistaxis, Erythema nodosum, Raynaud phenomenon, Cervical lym...	ORPHA:324625
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Secretory diarrhea	OMIM:614441
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Bradycardia, Hypotension	ORPHA:70587
Digeorge Syndrome	Acne, Parathyroid agenesis, Decreased circulating parathyroid hormone level, Seborrheic dermatiti...	OMIM:188400
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Witteveen-Kolk Syndrome	Hyperactivity, Inguinal hernia, Small for gestational age, Decreased response to growth hormone s...	OMIM:613406
Blau Syndrome	Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, I...	ORPHA:90340
Reactive Arthritis	Abdominal pain, Diarrhea, Weight loss, Inflammation of the large intestine, Recurrent aphthous st...	ORPHA:29207
Autosomal Dominant Hypocalcemia	Eczema, Abdominal pain, Congestive heart failure, Hyperphosphatemia, Hypocalcemia, Hypotension, H...	ORPHA:428
Xylt1-Cdg	Truncal obesity	ORPHA:370930
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Rheumatoid a...	ORPHA:95459
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Obesity, Gastroesophageal reflux, Constipation, Hyperglycemia, Gastrostomy tube feeding in infancy	ORPHA:444077
Rubinstein-Taybi Syndrome 1	Hyperactivity, Small for gestational age, Hypospadias, Impulsivity, Premature thelarche, Bilatera...	OMIM:180849
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cry...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cry...	ORPHA:353277
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Abdominal distention, Secretory diarrhea	OMIM:270420
Desbuquois Dysplasia 2	Truncal obesity	OMIM:615777
Monosomy 22Q13.3	Hyperactivity, Hair-pulling, Obesity, Bruxism, Umbilical hernia	ORPHA:48652
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Obesity	OMIM:250420
Cornelia De Lange Syndrome	Hypoplasia of penis, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Primary amenor...	ORPHA:199
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Urinary bladde...	ORPHA:556
Joubert Syndrome 39	Overweight, Joint contracture of the 5th finger	OMIM:619562
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Intractable diarrhea	OMIM:226730
Proximal Renal Tubular Acidosis	Diarrhea, Failure to thrive, Vomiting, Glycosuria	ORPHA:47159
Igg4-Related Submandibular Gland Disease	Cholangitis, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Prostatitis, Xerostomia,...	ORPHA:449432
Williams Syndrome	Hypoplasia of penis, Inguinal hernia, Failure to thrive in infancy, Hypogonadotropic hypogonadism...	ORPHA:904
Hutchinson-Gilford Progeria Syndrome	Severe failure to thrive, Insulin resistance, Weight loss	ORPHA:740
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Glucose intolerance, Failure to thrive, Glycosuria	OMIM:616539
Pmm2-Cdg	Pericarditis, Hypogonadotropic hypogonadism, Angina pectoris, Elevated circulating growth hormone...	ORPHA:79318
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Neonatal hypoglycemia, Cardiomegaly, Adrenocortical carc...	OMIM:130650
Chronic Graft Versus Host Disease	Pancytopenia, Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation, Diarrhea, Xerost...	ORPHA:99921
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
6Q Terminal Deletion Syndrome	Failure to thrive, Hypospadias, Obesity, Phimosis	ORPHA:75857
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Secretory diarrhea	OMIM:167100
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Glucose into...	OMIM:137920
Holoprosencephaly 2	Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	OMIM:157170
Alg9-Cdg	Hepatomegaly, Tricuspid regurgitation, Diarrhea, Periportal fibrosis, Hypoplasia of the ovary, Vo...	ORPHA:79328
Autosomal Dominant Progressive External Ophthalmoplegia	Diabetes mellitus, Hyperthyroidism, Glucose intolerance, Failure to thrive, Hypothyroidism, Goiter	ORPHA:254892
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Feeding difficulties, In...	ORPHA:2255
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar...	ORPHA:95455
Williams-Beuren Syndrome	Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Flexion contracture, Obesity, E...	OMIM:194050
Sotos Syndrome	Hypercalcemia, Feeding difficulties, Acute lymphoblastic leukemia, Gastroesophageal reflux, Const...	ORPHA:821
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hematemesis, Bloody diarrhea, Hematochezia, Melena	ORPHA:464321
Inhalational Anthrax	Vomiting, Internal hemorrhage, Hypotension	ORPHA:247257
Aspartylglucosaminuria	Hepatomegaly, Acne, Diarrhea, Vacuolated lymphocytes, Mitral regurgitation, Neutropenia	OMIM:208400
Neuroocular Syndrome	Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Lens coloboma, Attention defici...	OMIM:619539
Fragile X-Associated Tremor/Ataxia Syndrome	Bowel incontinence, Hypertension, Hypotension, Dysphagia, Hypothyroidism	ORPHA:93256
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Failure to thrive, Gastroesophageal reflux, Obesity, Feeding difficulties	OMIM:617157
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Slender build, Neonatal hypoglycemia, Large for gestational age	ORPHA:457359
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:300166
Peutz-Jeghers Syndrome	Abdominal pain, Intestinal bleeding, Bloody diarrhea	OMIM:175200
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Obesity	ORPHA:70591
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Truncal obesity, Camptodactyly, Failure to thrive, Abnormal repetitive m...	OMIM:612474
Renal Agenesis, Bilateral	Nonketotic hypoglycemia	ORPHA:1848
Mucopolysaccharidosis Type 3	Intermittent diarrhea, Constipation, Protuberant abdomen, Dysphagia	ORPHA:581
Aniridia 1	Glucose intolerance, Increased proinsulin:insulin ratio	OMIM:106210
Pallister-Killian Syndrome	Omphalocele, Inguinal hernia, Small scrotum, Hypospadias, Congenital diaphragmatic hernia, Supern...	OMIM:601803
Nmda Receptor Encephalitis	Neoplasm of the thymus, Diarrhea, Vomiting, Orthostatic hypotension	ORPHA:217253
Holoprosencephaly 1	Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia	OMIM:236100
Renal Tubular Dysgenesis	Hypotension	OMIM:267430
Neonatal Inflammatory Skin And Bowel Disease	Recurrent gastroenteritis, Bloody diarrhea	ORPHA:294023
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 20.1 Data