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Gene: Cadps2 MGI:2443963

Gene Summary

Name:

Ca2+-dependent activator protein for secretion 2

Synonyms:

Caps2, A230044C21Rik, cpd2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

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
increased circulating amylase level	Cadps2^{em1(IMPC)Rbrc}	HOM	Early adult	8.54×10^-05
abnormal mean corpuscular hemoglobin	Cadps2^{em1(IMPC)Rbrc}	HOM	Late adult	3.68×10^-06
abnormal lymph node morphology	Cadps2^{em1(IMPC)Rbrc}	HOM	Late adult	0.00
abnormal duodenum morphology	Cadps2^{em1(IMPC)Rbrc}	HOM	Late adult	0.00
abnormal circulating alkaline phosphatase level	Cadps2^{em1(IMPC)Rbrc}	HOM	Late adult	1.50×10^-05
enlarged lymph nodes	Cadps2^{em1(IMPC)Rbrc}	HOM	Late adult	0.00
abnormal pancreas morphology	Cadps2^{em1(IMPC)Rbrc}	HOM	Late adult	0.00
abnormal jejunum morphology	Cadps2^{em1(IMPC)Rbrc}	HOM	Late adult	0.00
abnormal pancreas morphology	Cadps2^{em1(IMPC)Rbrc}	HOM	Early adult	0.00
abnormal salivary gland morphology	Cadps2^{em1(IMPC)Rbrc}	HOM	Late adult	0.00
abnormal ileum morphology	Cadps2^{em1(IMPC)Rbrc}	HOM	Late adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Slit Lamp

2 Images

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Gross Pathology and Tissue Collection

Images

32 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

17 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Human diseases caused by Cadps2 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 Cadps2 (0 diseases)
Human diseases predicted to be associated with Cadps2 (801 diseases)

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

The table below shows human diseases predicted to be associated to Cadps2 by phenotypic similarity.

Disease	Matching phenotypes	Source
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
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Diabetes Mellitus, Ketosis-Prone	Beta-cell dysfunction, Insulin resistance, Diabetes mellitus	OMIM:612227
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
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
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
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Impaired social interactions	OMIM:618830
Muscle Cramps, Familial	Elevated circulating creatine kinase concentration	OMIM:158400
Cramps, Familial Adolescent	Elevated circulating creatine kinase concentration	OMIM:218050
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:606762
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Mahvash Disease	Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g...	OMIM:619290
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ...	ORPHA:100025
RCAD (renal cysts and diabetes)	Abnormality of the liver, Diabetes mellitus	DECIPHER:47
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Burkitt Lymphoma	Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th...	ORPHA:543
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Adenocarcinoma Of The Esophagus	Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy	ORPHA:99976
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia, Abnormal salivary gland morphology	ORPHA:3225
Type 2 Diabetes Mellitus	Insulin resistance, Type II diabetes mellitus	OMIM:125853
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy	ORPHA:52416
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis, Oral ulcer	OMIM:618287
Hjv Or Hamp-Related Hemochromatosis	Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes mellitus, Hyp...	ORPHA:79230
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Intellectual Developmental Disorder, Autosomal Recessive 66	Gait ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Shyness	OMIM:618221
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Isolated Asymptomatic Elevation Of Creatine Phosphokinase	Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration	ORPHA:206599
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Oral ulcer, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux	OMIM:608971
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Fastin...	ORPHA:276608
Variant Abeta2M Amyloidosis	Intestinal perforation, Abnormality of the tongue, Gastrointestinal infarctions, Hepatic amyloido...	ORPHA:314652
Juvenile Huntington Disease	Cerebellar atrophy, Hyperactivity, Ataxia, Chorea, Gait ataxia, Weight loss, Progressive cerebell...	ORPHA:248111
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance	OMIM:307500
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Pach...	OMIM:607432
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy...	OMIM:613101
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex...	OMIM:601346
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ...	OMIM:615710
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures,...	ORPHA:276580
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Hyperactivity, Ataxia, Simplified gyral pattern	OMIM:613402
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Type II lissencephaly, Cerebellar dysplasia	OMIM:615041
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ataxia, Hydrocephalus, Abnormality of neuronal migration, Attention deficit hyperactivity disorde...	OMIM:618709
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia	OMIM:620270
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes me...	ORPHA:276575
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Hyperlipidemia, Protein-losing enteropathy, Hypoalbuminemia, Hypercholesterolemia	OMIM:615863
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Partial absence of cerebellar vermis, Retroc...	ORPHA:137831
Pfapa Syndrome	Hepatomegaly, Malabsorption, Splenomegaly, Lymphadenopathy, Abnormal oral cavity morphology	ORPHA:42642
Jejunal Atresia	Jejunal atresia	OMIM:243600
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy	OMIM:618852
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Microlissencephaly	Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter...	ORPHA:1083
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet...	ORPHA:79644
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia	OMIM:619164
Wolfram-Like Syndrome	Diabetes mellitus, Glucose intolerance, Primary gonadal insufficiency, Delayed puberty, Male hypo...	ORPHA:411590
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Spinocerebellar Ataxia 48	Cerebellar atrophy, Dystonia, Ataxia, Cachexia, Tremor, Chorea, Dysmetria, Gait ataxia, Depressio...	OMIM:618093
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Duodenal atresia	ORPHA:1203
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit...	ORPHA:97290
Igg4-Related Submandibular Gland Disease	Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Enlarged lacrimal glands, Abnormal pancreas ...	ORPHA:449432
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Dystonia, Ataxia, Aggressive behavior, Tremor, Chorea, Depression, Impaired s...	OMIM:619738
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Celiac ...	OMIM:619375
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit...	ORPHA:319487
Lissencephaly 3	Cerebellar vermis hypoplasia, Ataxia, Periventricular laminar heterotopia, Agyria, Gray matter he...	OMIM:611603
Chudley-Mccullough Syndrome	Hydrocephalus, Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Cerebellar dysplasia	OMIM:604213
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen...	OMIM:603552
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Refractory Celiac Disease	Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Increase...	ORPHA:398063
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he...	OMIM:243150
Intellectual Developmental Disorder With Autism And Speech Delay	Pachygyria, Abnormal repetitive mannerisms, Impaired social interactions	OMIM:606053
Brooke-Spiegler Syndrome	Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo...	ORPHA:79493
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I...	ORPHA:424019
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia, Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration	OMIM:221400
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycemic seizures, Recurrent hyp...	ORPHA:276556
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Hyperpepsinogenemia I, Duodenal ulcer	OMIM:126840
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Impaired ability to form peer relationships, Impaired social interactions, ...	OMIM:608636
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At...	ORPHA:66624
Duodenal Ulcer, Hyperpepsinogenemic I	Hyperpepsinogenemia I, Duodenal ulcer	OMIM:126850
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Hyperactivity, Impulsivity, Aggressive behavior, Pachygyria, Polymicrogyria, Simplified gyral pat...	OMIM:604317
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus	OMIM:610947
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Oral-pharyngeal dysphagia, Chronic noninfectious lymphad...	ORPHA:100083
Sickle Cell Anemia	Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Childhood Disintegrative Disorder	Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora...	ORPHA:168782
Pancreatic Colipase Deficiency	Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi...	ORPHA:309108
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism	OMIM:145750
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Cerebellar atrophy, Resting tremor, Dystonia, Ataxia, Aggressive behavior, Tremor, Dysmetria, Gai...	OMIM:615157
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Duodenal atresia	ORPHA:3004
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Intestinal obstruction, Inflammation of the large intestine, Lymp...	ORPHA:26790
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Ataxia, Delayed early-childhood social milestone development, Dysmetria, Gait...	ORPHA:208513
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Gray matter heterotopia, ...	ORPHA:300573
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Ataxia, Abnormal neuron morphology, Aggressive behavior, Obesity, Stereotypical ha...	ORPHA:163681
Hereditary Geniospasm	Abnormal social behavior, Intention tremor	ORPHA:53372
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Duodenal atresia, Anemia, Intestinal atresia	ORPHA:3405
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti...	OMIM:613673
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Neutrophilia, Elevated circulating C-reactive protein concentration, Abnormality o...	ORPHA:54251
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Cerebellar atrophy, Ataxia, Narcolepsy, Depression, Dementia, Memory impairment	OMIM:604121
Feingold Syndrome	Abnormality of the spleen, Esophageal atresia, Orofacial cleft, Annular pancreas, Duodenal atresia	ORPHA:1305
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile...	OMIM:619079
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ...	ORPHA:2070
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Polysplenia, Duodenal atresia	OMIM:619608
Hsd10 Disease	Short attention span, Ataxia, Tremor, Choreoathetosis, Dysphagia, Abnormal social behavior	ORPHA:391417
Al Amyloidosis	Abnormality of the gastrointestinal tract, Hepatomegaly, Gastrointestinal hemorrhage, Increased c...	ORPHA:85443
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Abnormal intestine morphology...	ORPHA:397596
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:615411
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent...	OMIM:601847
11Q22.2Q22.3 Microdeletion Syndrome	Short attention span, Obesity, Compulsive behaviors, Attention deficit hyperactivity disorder, Ab...	ORPHA:444002
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Cyanosis, Transient Neonatal	Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Cyclic Neutropenia	Premature loss of permanent teeth, Lymphopenia, Cyclic neutropenia, Perianal abscess, Cervical ly...	ORPHA:2686
Bile Acid Malabsorption, Primary, 1	Increased fecal bile acid, Fat malabsorption, Steatorrhea	OMIM:613291
Kerion Celsi	Lymphadenopathy	ORPHA:499
Pancreatic Lipase Deficiency	Fat malabsorption, Hypocholesterolemia, Steatorrhea	OMIM:614338
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Hartnup Disorder	Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Intellectual Developmental Disorder, X-Linked 12	Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor...	OMIM:300957
Symmetrical Thalamic Calcifications	Failure to thrive, Ataxia, Abnormality of neuronal migration, Cognitive impairment	ORPHA:1314
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Splenomegaly, Lymphadenitis...	OMIM:618935
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:616050
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Crypt hyperplasia	OMIM:613217
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Hyperactivity, Cerebellar vermis hypoplasia, Tremor, Dysmetria, Gait ataxia	OMIM:618090
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, He...	ORPHA:103910
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Duodenal Atresia	Duodenal atresia	OMIM:223400
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency	OMIM:609812
Perlman Syndrome	Hepatomegaly, High, narrow palate, Cryptorchidism, Abnormal pancreas morphology, Abnormal upper l...	ORPHA:2849
Muir-Torre Syndrome	Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Colon cancer, Adenoma se...	ORPHA:587
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Recurrent infection of the gastrointestinal tract, Autoimmune thromb...	OMIM:608184
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Chylomicron Retention Disease	Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL cholesterol concentratio...	OMIM:246700
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Sple...	ORPHA:507
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Chronic Diarrhea Due To Glucoamylase Deficiency	Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal...	ORPHA:103907
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Ataxia, Narcolepsy, Depression, Head tremor, Mental deteriora...	ORPHA:314404
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch...	ORPHA:64744
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Hepatic fibrosis, Protein-losing enteropathy, Cirrhosis, Steatorrh...	OMIM:602579
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy, Hyperglycinemia	OMIM:619063
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Villous atrophy, Abnormal intestine morphology	OMIM:251850
Fanconi Anemia, Complementation Group W	Decreased response to growth hormone stimulation test, Polysplenia, Duodenal atresia	OMIM:617784
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Decreased circulating 12-HETE, Iron deficiency anemia, Gastric ulcer, Esophageal ...	OMIM:618372
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Foxg1 Syndrome	Dystonia, Pachygyria, Bruxism, Choreoathetosis, Impaired social interactions, Cognitive impairmen...	ORPHA:561854
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Lymphadenopath...	OMIM:611762
Melioidosis	Liver abscess, Abnormality of the spleen, Hepatitis, Abnormal parotid gland morphology, Splenic a...	ORPHA:31202
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cog...	ORPHA:309246
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Congenital Bile Acid Synthesis Defect Type 3	Jaundice, Cholestasis, Hepatosplenomegaly, Bile duct proliferation, Cirrhosis, Hyperbilirubinemia...	ORPHA:79302
Niemann-Pick Disease Type C	Progressive neurologic deterioration, Tremor, Chorea, Progressive gait ataxia, Low frustration to...	ORPHA:646
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ileus, Hepatitis, L...	OMIM:304790
Diarrhea 9	Villous atrophy	OMIM:618168
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl...	OMIM:211600
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st...	OMIM:300048
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology	OMIM:613502
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav...	ORPHA:3077
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Glycosuria, Pancreatic islet-cell hyperplasia, Fas...	ORPHA:263455
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ...	ORPHA:263665
Oxoglutaric Aciduria	Abnormal salivary gland morphology	ORPHA:31
Hypercholanemia, Familial 1	Fat malabsorption, Increased serum bile acid concentration, Steatorrhea	OMIM:607748
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ...	ORPHA:329971
Pancreatic Agenesis 1	Pancreatic hypoplasia, Reduced C-peptide level, Pancreatic aplasia, Exocrine pancreatic insuffici...	OMIM:260370
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Lissencephaly, X-Linked, 1	Ataxia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:300067
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Deep philtrum, Lymphade...	OMIM:619750
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Oral ulcer, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia	OMIM:616744
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen...	OMIM:616100
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, ...	OMIM:614034
Landau-Kleffner Syndrome	Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Social and oc...	ORPHA:98818
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Hyperactivity, Aggressive behavior, Tremor, Simplified gyral pattern, Gait ataxia, Abdominal obes...	OMIM:300354
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy	OMIM:618662
Matthew-Wood Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology...	ORPHA:2470
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Unilateral cryptorchidism, Cleft palate, Persistence of hemoglobin F, Increase...	OMIM:300946
Congenital Short Bowel Syndrome	Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con...	OMIM:615237
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa...	OMIM:606069
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Cerebella...	ORPHA:352682
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Enlarged lacrimal glands, Xerostomia, Lymphadenopathy, Enlargement of p...	ORPHA:79078
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia, Protein-losing ent...	OMIM:175500
Castleman Disease	Abnormality of the gastrointestinal tract, Intestinal obstruction, Generalized lymphadenopathy, E...	ORPHA:160
Rhabdoid Tumor	Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia	ORPHA:69077
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal eating behavior, Compulsive behaviors, ...	ORPHA:101039
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Short attention span, Hyperactivity, Cerebellar vermis hypoplasia, Aggressive behavior, Dysphoria...	OMIM:620242
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Igg4-Related Ophthalmic Disease	Cholangitis, Elevated circulating C-reactive protein concentration, Eosinophilia, Retroperitoneal...	ORPHA:449563
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly...	ORPHA:381
Intellectual Developmental Disorder, Autosomal Dominant 56	Bradyphrenia, Short attention span, Dystonia, Ataxia, Impulsivity, Pontocerebellar atrophy, Impai...	OMIM:617854
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Ora...	OMIM:602450
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma...	ORPHA:552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cerebellar dysplasia, Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pon...	OMIM:613153
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr...	ORPHA:98850
Abetalipoproteinemia	Fat malabsorption, Abetalipoproteinemia, Acanthocytosis	OMIM:200100
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso...	ORPHA:210122
Alg6-Cdg	Jaundice, Decreased LDL cholesterol concentration, Macroglossia, Abnormality of the liver, Protei...	ORPHA:79320
Pancreatic Agenesis 2	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic aplasia	OMIM:615935
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym...	OMIM:603909
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Hereditary Amyloidosis With Primary Renal Involvement	Abnormality of the gastrointestinal tract, Hepatomegaly, Intestinal obstruction, Primary testicul...	ORPHA:85450
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly	ORPHA:163596
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
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
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H...	ORPHA:370022
Cln5 Disease	Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Dysmetria, Dysdiadochokin...	ORPHA:228360
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Lymphadenopathy	OMIM:605258
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Subcortical band heterotopi...	OMIM:615191
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Pancreatitis, Hereditary	Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i...	OMIM:167800
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Perisylvian polymicrogyria, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dyspl...	OMIM:616531
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Recurrent ...	OMIM:150550
Vascular Hyalinosis	Hematochezia, Protein-losing enteropathy, Malabsorption	OMIM:277175
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Functional abnormality of ...	ORPHA:90362
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Gray matter heterotopia, Pachygyria, Cerebellar cyst	ORPHA:370980
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Confusion, Dementia, Agitation, Semantic dementia, Disinhibition, Memory impairment, Abno...	ORPHA:1020
Infantile Neuroaxonal Dystrophy	Psychomotor deterioration, Short attention span, Cerebellar atrophy, Hyperactivity, Ataxia, Dysto...	ORPHA:35069
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t...	OMIM:208540
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration	ORPHA:101029
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hepatic fibrosis, Protein-losing ...	ORPHA:79319
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Short attention span, Hyperactivity, Dystonia, Impulsivity, Chorea, Dysmetria...	OMIM:610217
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl...	ORPHA:231214
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intestinal obstruction, Jaun...	ORPHA:1333
Donohue Syndrome	Precocious puberty, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyperp...	OMIM:246200
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth, Hiatus hernia, Persistence of hemoglobin F, Gastro...	OMIM:619769
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Short attention span, Hyperactivity, Ataxia, Obesity, Inappropriate laughter, Polyphagia	ORPHA:411515
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune ...	ORPHA:436159
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath...	OMIM:181000
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Hepatomegaly, Generalized lymphadenopathy, Elevated ci...	ORPHA:50918
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy	OMIM:618982
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno...	ORPHA:158061
Acalvaria	Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypopl...	ORPHA:945
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thin upper lip vermilion, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lympha...	OMIM:235255
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Abnormal circulating lipid concentration, Enlarged polycystic ovaries, Abnormal...	ORPHA:2298
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Thrombocytopenia, Elevated circulating creatinine concentration, Ch...	OMIM:608104
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Phenylketonuria	Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def...	OMIM:261600
Gomez-Lopez-Hernandez Syndrome	Fusion of the cerebellar hemispheres, Hyperactivity, Agenesis of cerebellar vermis, Cerebellar ve...	OMIM:601853
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Overweight, Tremor, Depression, Abnormal repetitive mannerisms, Self-mutilation, Cerebellar dyspl...	ORPHA:457240
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:607115
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior	OMIM:271980
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Pleural Mesothelioma	Hepatomegaly, Dysphagia, Lymphadenopathy	ORPHA:50251
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration, Cognitive impairment	ORPHA:2216
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Villous atrophy, Sideroblastic anemia, Pancreatic fibrosis, Pancytopenia, Malabsorp...	OMIM:557000
Congenital Contractural Arachnodactyly	Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia	ORPHA:115
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality o...	ORPHA:93111
Congenital Toxoplasmosis	Hepatomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia	ORPHA:858
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat...	OMIM:608189
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules	OMIM:619445
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy	ORPHA:79292
Granulomatous Slack Skin	Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Hereditary Chronic Pancreatitis	Jaundice, Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification	ORPHA:676
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen...	ORPHA:540
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu...	ORPHA:424016
Plasminogen Deficiency, Type I	Duodenal ulcer, Decreased level of plasminogen, Gingival overgrowth, Gingivitis, Periodontitis	OMIM:217090
Benign Schwannoma	Intestinal polyposis, Abnormality of the liver, Abnormal parotid gland morphology, Abnormal esoph...	ORPHA:252164
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot...	OMIM:615960
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Abnormal cortical gyration, Aggressive behavior, Dysmetria, Positive Romberg sign, Cerebe...	ORPHA:314647
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatospl...	OMIM:615122
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Short attention span, Torticollis, Cerebellar vermis hypoplasia, Delayed early-ch...	ORPHA:300570
Tularemia	Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy...	ORPHA:3392
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Periventricular heterotopia, Simplified gyral pattern, Cerebellar h...	OMIM:618273
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Le...	OMIM:615895
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re...	OMIM:613179
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Metachromatic Leukodystrophy, Adult Form	Short attention span, Chorea, Progressive psychomotor deterioration, Depression, Emotional labili...	ORPHA:309271
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Short attention span, Hyperactivity, Shyness, Aggressive behavior, Depression, Irritability, Self...	ORPHA:449291
Feingold Syndrome 1	Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Gastrointestinal atresia, Trache...	OMIM:164280
Colonic Atresia	Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic...	ORPHA:1198
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal...	ORPHA:89844
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Malabsorption, Cryptorchidism, Leukocytosis, Lymphadenopathy, Acute l...	ORPHA:99812
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Recu...	OMIM:301078
Acquired Hypertrichosis Lanuginosa	Macroglossia, Ovarian neoplasm, Glossitis, Lymphadenopathy	ORPHA:2221
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Cerebellar hypoplasia, Polymicrogyri...	OMIM:615181
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
47,Xyy Syndrome	Hyperactivity, Impulsivity, Hydrocephalus, Impaired social interactions, Attention deficit hypera...	ORPHA:8
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt...	ORPHA:1332
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, ...	ORPHA:79303
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Stromme Syndrome	Accessory spleen, Jejunal atresia, Intestinal malrotation, Cleft palate, Wide mouth, Duodenal atr...	OMIM:243605
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Cryptorchidism, Thro...	OMIM:617052
Chiari Malformation Type Ii	Ataxia, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Gray matter heterotopia, Cer...	OMIM:207950
Diamond-Blackfan Anemia 6	Macrocytic anemia, Cleft upper lip, Cleft palate, Persistence of hemoglobin F, Increased mean cor...	OMIM:612561
Alg1-Cdg	Abnormality of the gastrointestinal tract, Protein-losing enteropathy, Hypoalbuminemia	ORPHA:79327
Young-Onset Parkinson Disease	Short attention span, Restless legs, Dystonia, Impulsivity, Tremor, Depression, Frontal lobe deme...	ORPHA:2828
Fryns Syndrome	Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Cryp...	ORPHA:2059
Anaplastic Thyroid Carcinoma	Tracheoesophageal fistula, Lymphadenopathy, Dysphagia, Nodular goiter, Goiter	ORPHA:142
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Hyperactivity, Ataxia, Aggressive behavior, Obsessive-compulsive trait, Demen...	ORPHA:168491
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma...	ORPHA:530983
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Pancytopenia, Autoimmune hemoly...	OMIM:614700
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Thin upper lip vermilion, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism...	ORPHA:1655
Chylomicron Retention Disease	Hypertriglyceridemia, Hypocholesterolemia, Increased hepatocellular lipid droplets, Acanthocytosi...	ORPHA:71
Aceruloplasminemia	Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe...	ORPHA:48818
Metachromatic Leukodystrophy, Juvenile Form	Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Dystonia, E...	ORPHA:309263
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Neutropenia, Steatorrhea, High palate, Hyperechogenic pancreas, ...	OMIM:617941
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+...	OMIM:606367
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Elevated circu...	OMIM:619381
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Periventricular heterotopia, Simplified gyral pattern, Microlissencephaly, Li...	OMIM:616212
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Myoclonic-Astatic Epilepsy	Hyperactivity, Ataxia, Tremor, Abnormal emotion, Impaired social interactions, Attention deficit ...	ORPHA:1942
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ...	OMIM:200995
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Cold Agglutinin Disease	Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalcemia, Cryptorchidism, Splenomegaly, Macroglossia, Oligodontia, Protein-los...	OMIM:618440
Hypoplasminogenemia	Duodenal ulcer, Decreased level of plasminogen, Gingival overgrowth, Gingivitis, Periodontitis, A...	ORPHA:722
Pancreatoblastoma	Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph nod...	ORPHA:677
Igg4-Related Kidney Disease	Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Ly...	ORPHA:449395
Trigonocephaly 1	High, narrow palate, Meckel diverticulum, Long philtrum	OMIM:190440
Bile Acid Synthesis Defect, Congenital, 4	Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Hyperbilirubinemia, P...	OMIM:214950
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Childhood Absence Epilepsy	Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression	ORPHA:64280
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Cerebellar atrophy, Hyperactivity, Failure to thrive, Aggressive behavior	ORPHA:369939
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p...	OMIM:617718
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Neutropenia, Oral ulcer, Inflamm...	OMIM:232220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Pachygyria, Cerebellar hypoplasia, Abnormality of neuronal migration	OMIM:608840
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Periventricular heterotopia, Hydrocephalus, Chiari type I malformation, Cerebellar hypopl...	OMIM:618476
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Cryptorchidism, Thrombocytopenia, Leukopen...	OMIM:603467
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Peritonitis, Lymphadenopathy, ...	ORPHA:343
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Hemimegalencephaly	Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology	ORPHA:99802
Adenylosuccinase Deficiency	Cerebellar atrophy, Hyperactivity, Aggressive behavior, Gait ataxia, Opisthotonus, Inappropriate ...	OMIM:103050
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased...	OMIM:603553
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Disorganization of the anterior cerebellar vermis, Hyperactivity, Cerebellar vermis hypoplasia, G...	OMIM:300486
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Mediastinal...	ORPHA:379
Immunodeficiency 10	Amelogenesis imperfecta, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Joubert Syndrome 30	Cerebellar atrophy, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy-Walker malforma...	OMIM:617622
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Hyperactivity, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Dys...	OMIM:617751
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Intestinal malrotation, Duodenal stenosis	ORPHA:1759
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ...	OMIM:609981
Progressive Supranuclear Palsy	Dystonia, Impulsivity, Tremor, Depression, Abnormal synaptic transmission, Blepharospasm, Dementi...	ORPHA:683
Thyroid Lymphoma	Goiter, Dysphagia, Lymphadenopathy	ORPHA:97285
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Myopathy With Extrapyramidal Signs	Hyperactivity, Ataxia, Tremor, Chorea, Perisylvian polymicrogyria, Choreoathetosis, Dystonia, Cer...	OMIM:615673
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, ...	ORPHA:567983
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy	ORPHA:85414
Blau Syndrome	Splenomegaly, Xerostomia, Lymphadenopathy, Abnormality of the liver, Abnormal salivary gland morp...	ORPHA:90340
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo...	ORPHA:103918
Microcephaly 29, Primary, Autosomal Recessive	Hyperactivity, Ataxia, Simplified gyral pattern, Emotional lability, Enlarged cerebellum	OMIM:620047
Melkersson-Rosenthal Syndrome	Macroglossia, Furrowed tongue, Cheilitis, Lymphadenopathy	ORPHA:2483
Microform Holoprosencephaly	Tented upper lip vermilion, Orofacial cleft, Cleft palate, Short philtrum, Solitary median maxill...	ORPHA:280200
Familial Adenomatous Polyposis 4	Ovarian cyst, Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma	OMIM:617100
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Autoim...	OMIM:614162
48,Xxxy Syndrome	Tremor, Obesity, Irritability, Attention deficit hyperactivity disorder, Abnormal social behavior...	ORPHA:96263
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Peptic ulcer, Eosinophilia...	ORPHA:98849
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Leber Congenital Amaurosis	Encephalocele, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar vermis	ORPHA:65
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar...	ORPHA:220460
Roifman Syndrome	Hepatomegaly, Thin upper lip vermilion, Eosinophilia, Splenomegaly, Lymphadenopathy, Downturned c...	OMIM:616651
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Steatorrhea, Malabsorption	ORPHA:3217
Fanconi Anemia, Complementation Group B	Aplastic anemia, Esophageal atresia, Tracheoesophageal fistula, Thrombocytopenia, Duodenal atresia	OMIM:300514
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Lymphadenopathy, Achalasia	ORPHA:3386
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Refractory anemia, High, narrow palate, Rectal prolapse, Adenomatous...	ORPHA:79076
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Proximal 16P11.2 Microdeletion Syndrome	Dystonia, Obesity, Chiari type I malformation, Choreoathetosis, Impaired social interactions, Att...	ORPHA:261197
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Conical tooth, Increased T cell count, In...	ORPHA:98813
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Cerebellar hypoplasia, Abnormality of neuronal migration	OMIM:300049
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Impaired social i...	OMIM:610042
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Tented upper lip vermilion, Aganglionic megacolon, Abnormal hemoglobin, Abnormality of the dentit...	ORPHA:847
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Occipital encephalocele, Olivopon...	ORPHA:370959
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Rett Syndrome, Congenital Variant	Dystonia, Chorea, Tongue thrusting, Simplified gyral pattern, Athetosis, Irritability, Impaired s...	OMIM:613454
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Gastritis, Malabsorption, Autoimmune thrombocytopenia, Splenomegaly,...	ORPHA:37042
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Type I diabetes mellitus, Hepatomegaly, Insulin-resistant diabetes mellitus, Reduced pancreatic b...	OMIM:226980
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Lymphadenopath...	OMIM:619644
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ...	ORPHA:276
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Hydrocele testis, Protein-losing enteropathy	OMIM:618154
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Steatorrhea, Persistence of...	OMIM:260400
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Oral ulc...	ORPHA:169154
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Cryptorchidism, High palate, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Whim Syndrome	Abnormal small intestine morphology, Severe periodontitis, Lymphadenitis, Abnormal neutrophil mor...	ORPHA:51636
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Abnormality of the spleen, Abnormality of the liver, G...	ORPHA:33276
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Fryns Syndrome	Tented upper lip vermilion, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotat...	OMIM:229850
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit...	ORPHA:79456
Roifman Syndrome	Thin upper lip vermilion, Eosinophilia, Lymphadenopathy, Downturned corners of mouth, Hepatosplen...	ORPHA:353298
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia	OMIM:619227
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Isolated Biliary Atresia	Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Conjugated hyperbilirubinemia, Cholest...	ORPHA:30391
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Hyperparathyroidism, Intestinal obstruction, Duodenal ulcer, Pituita...	ORPHA:913
Metachromatic Leukodystrophy, Late Infantile Form	Gait ataxia, Progressive gait ataxia, Dystonia, Emotional lability, Abnormal social behavior	ORPHA:309256
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Pericardial lymphangiectasia, Thyroid lymphangiectasia, Cryptorchidism...	OMIM:235510
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hepatomegaly, Hemolytic anemia, Gastritis, Splenomegaly, Mediastinal...	ORPHA:809
3-Hydroxyisobutyric Aciduria	Failure to thrive, Abnormality of neuronal migration	OMIM:236795
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ...	OMIM:618048
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, ...	ORPHA:98794
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Malabsorption, Atypical or prolonge...	ORPHA:83471
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Lymph...	ORPHA:1572
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne...	ORPHA:699
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Amelogenesis imperfecta, Thrombocy...	ORPHA:169090
Dextrocardia	Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal ...	ORPHA:1666
Fg Syndrome Type 1	Abnormal cerebellum morphology, Hydrocephalus, Compulsive behaviors, Attention deficit hyperactiv...	ORPHA:93932
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration	ORPHA:2772
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ...	OMIM:257200
Gardner Syndrome	Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Abnormality of the dent...	ORPHA:79665
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Wide mouth, Duodenal atresia	OMIM:617798
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Familial Adenomatous Polyposis	Duodenal polyposis, Multiple gastric polyps, Eruption failure, Adenocarcinoma of the small intest...	ORPHA:733
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura...	OMIM:600802
Thymic Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Pancreatic islet cell adenoma...	ORPHA:97289
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia	OMIM:619101
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Duodenal polyposis, Abnormality of canine, Adenomatous colonic polyposis, Desmoid tumors, Iron de...	ORPHA:261584
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E...	ORPHA:2363
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Normocytic anemia, Abnormality of neutrophils, Malabso...	ORPHA:33226
Hereditary Methemoglobinemia	Lip discoloration, Methemoglobinemia	ORPHA:621
Esophageal Atresia	Barrett esophagus, Intestinal malrotation, Cleft lip, Pyloric stenosis, Gastrointestinal dysmotil...	ORPHA:1199
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Malabsorp...	ORPHA:2136
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Duodenal polyposis, Supernumerary tooth, Adenomatous colonic polyposis,...	ORPHA:247806
Adult-Onset Still Disease	Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-reactive protein ...	ORPHA:829
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep...	OMIM:619377
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Thin upper lip vermilion, Increased circulating thyroglobulin level, Portal hyperte...	OMIM:610199
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentr...	OMIM:615688
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P...	ORPHA:731
Glutathionuria	Tremor, Gray matter heterotopia, Dysdiadochokinesis, Action tremor	OMIM:231950
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia, Cognitive impairment, Dysphagia	OMIM:617008
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Gray matter heterotopia, Impaired social interactions, Dysphagia, P...	OMIM:619775
Seckel Syndrome 10	Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi...	OMIM:617253
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, J...	OMIM:214500
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Gingival overgrowth, Lymphadenopathy, Leukopenia, G...	ORPHA:520
Trichothiodystrophy 3, Photosensitive	Natal tooth, Lymphopenia, Bilateral cryptorchidism, Carious teeth, Pyloric stenosis, Neutropenia,...	OMIM:616395
Treacher Collins Syndrome 1	Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N...	OMIM:154500
Band Heterotopia	Gray matter heterotopia, Hydrocephalus, Subcortical band heterotopia, Polymicrogyria	OMIM:600348
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis	OMIM:614328
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Mevalonic Aciduria	Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:610377
Graft Versus Host Disease	Jaundice, Oral ulcer, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Gastrointestinal in...	ORPHA:39812
Pyruvate Dehydrogenase E1-Beta Deficiency	Ataxia, Periventricular heterotopia, Cerebellar hypoplasia, Decreased body weight, Pachygyria	ORPHA:255138
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polysplenia	OMIM:211890
Jacobsen Syndrome	Intestinal malrotation, Cryptorchidism, Pyloric stenosis, Thrombocytopenia, Abnormal palate morph...	ORPHA:2308
Walker-Warburg Syndrome	Abnormal cortical gyration, Polymicrogyria, Hydrocephalus, Abnormality of neuronal migration, Mac...	ORPHA:899
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis	OMIM:611376
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m...	ORPHA:101030
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a...	OMIM:129900
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Se...	OMIM:604292
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Microvesicular hepatic steato...	OMIM:619418
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium	ORPHA:100924
Papa Syndrome	Crohn's disease, Lymphadenopathy	ORPHA:69126
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglycemia, Pancreatic hypoplasia, R...	ORPHA:99885
Carney Triad	Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Lymphade...	ORPHA:139411
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Impaired pain sensation, Aggressive behavior, Narcolepsy, Obesity, Depression, Self-injurious beh...	ORPHA:293987
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Bohring-Opitz Syndrome	Bilateral cleft palate, Intestinal malrotation, Supernumerary nipple, Cleft upper lip, Narrow pal...	OMIM:605039
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Compulsive behaviors, Impaire...	OMIM:612469
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hepatomegaly, Atrophic gastritis, Villous atrophy, ...	OMIM:619573
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Abnormality of neuron...	ORPHA:475
Carcinoid Syndrome	Chronic noninfectious lymphadenopathy, Hepatic necrosis, Small intestine carcinoid, Abnormal B-ty...	ORPHA:100093
Felty Syndrome	Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellularity, Neutr...	ORPHA:47612
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Intestinal malrotation, Asplenia, Esophageal atresia, Cleft lip, Pulmonary lymphangiectasia, Trac...	OMIM:265380
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein...	ORPHA:2929
Citrullinemia Type Ii	Restlessness, Hyperactivity, Confusion, Aggressive behavior, Abnormal eating behavior, Tremor, Ma...	ORPHA:247585
H Syndrome	Hypertriglyceridemia, Cleft upper lip, Malabsorption, Microcytic anemia, Gingival overgrowth, Lym...	ORPHA:168569
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit...	ORPHA:29073
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Extrahepatic...	ORPHA:100078
Distal Deletion 12Q	Median cleft lip, Unilateral cryptorchidism, High, narrow palate, Pituitary adenoma, Esophageal a...	ORPHA:96149
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Cognitive imp...	ORPHA:93274
Periventricular Nodular Heterotopia 7	Ataxia, Gray matter heterotopia, Periventricular nodular heterotopia, Failure to thrive, Polymicr...	OMIM:617201
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,...	OMIM:263200
Autoimmune Lymphoproliferative Syndrome	Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative...	ORPHA:3261
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Tremor, Obesity, Gray matter heterotopia, Attention def...	OMIM:619312
Mosaic Variegated Aneuploidy Syndrome 1	Cryptorchidism, Cleft palate, Leukemia, Long philtrum, Triangular mouth, Duodenal atresia	OMIM:257300
Familial Adenomatous Polyposis 1	Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g...	OMIM:175100
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Neurocutaneous Melanocytosis	Meningocele, Abnormality of neuronal migration, Chiari malformation, Aplasia/Hypoplasia of the ce...	ORPHA:2481
Menke-Hennekam Syndrome 2	Thin upper lip vermilion, Deep philtrum, Duodenal ulcer, Agenesis of permanent teeth	OMIM:618333
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Protruding tongue, Diastema, Cryptorchidism, Thick lower lip vermilion, Reduced alpha/beta synthe...	OMIM:301040
Alg11-Cdg	Ataxia, Opisthotonus, Gray matter heterotopia, Impaired social interactions, Failure to thrive	ORPHA:280071
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma...	ORPHA:96180
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia,...	OMIM:617591
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus...	ORPHA:90291
Choreoacanthocytosis	Chorea, Oromandibular dystonia, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Impaired...	ORPHA:2388
Boutonneuse Fever	Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy	ORPHA:83313
Fanconi Anemia, Complementation Group D2	Pancytopenia, Cryptorchidism, Esophageal atresia, Thrombocytopenia, Tracheoesophageal fistula, Re...	OMIM:227646
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Cryptorchidism, Cleft palate, Thick upper li...	OMIM:247200
Cherubism	Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multiple impacted tee...	OMIM:118400
Sarcoidosis	Abnormality of the gastrointestinal tract, Hepatomegaly, Hemolytic anemia, Hypercalcemia, Portal ...	ORPHA:797
Serkal Syndrome	Malrotation of small bowel, Orofacial cleft	ORPHA:139466
Campomelia, Cumming Type	Hepatomegaly, Pancreatic cysts, Abnormality of the pancreas, Cleft palate, Abnormal intestine mor...	ORPHA:1318
Atelosteogenesis Type I	Malrotation of colon, Abnormal pancreatic duct morphology, Cleft palate	ORPHA:1190
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Neop...	ORPHA:99867
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cryptorchidism, Cleft lip, Furrowed tongue, High palate, Broad alveolar ridges, Gastroesophageal ...	OMIM:616975
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Familial Mediterranean Fever	Intestinal obstruction, Malabsorption, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Gast...	ORPHA:342
Mosaic Variegated Aneuploidy Syndrome 2	Duodenal atresia, Decreased response to growth hormone stimulation test, Narrow mouth	OMIM:614114
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo...	ORPHA:167
Pediatric Systemic Lupus Erythematosus	Abnormality of the gastrointestinal tract, Oral ulcer, Lymphadenopathy, Leukopenia, Microangiopat...	ORPHA:93552
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Lymph node hypoplasia, T lymphocytopenia, B lymp...	OMIM:300755
Neurofibroma	Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Abnorma...	ORPHA:252183
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Subcortical heterotopia, Agyria, Type II lissencephaly, Hydrocephalus, Gray matter...	OMIM:614643
Congenital Tracheal Stenosis	Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A...	ORPHA:141127
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Legionnaires Disease	Hyponatremia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Ly...	ORPHA:549
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Diamond-Blackfan Anemia	Acute myeloid leukemia, Cleft soft palate, Pure red cell aplasia, Cleft lip, Erythroid hypoplasia...	ORPHA:124
Edinburgh Malformation Syndrome	Hydrocephalus, Failure to thrive, Abnormality of neuronal migration	ORPHA:1895
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hematochezia, Protein-losing enteropathy, Hyp...	OMIM:618183
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Thin upper lip vermilion, Everted lower lip vermilion	OMIM:617101
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele, Dandy-Walker malformation	OMIM:164180
Cog8-Cdg	Protein-losing enteropathy	ORPHA:95428
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-Ellison synd...	ORPHA:652
Microvillus Inclusion Disease	Villous atrophy, Abnormal small intestinal villus morphology	ORPHA:2290
Feingold Syndrome Type 1	Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia	ORPHA:391641
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath...	OMIM:617099
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Thin upper lip vermilion, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea, Hepat...	OMIM:616263
Focal Dermal Hypoplasia	Abnormal dental morphology, Abnormal dental enamel morphology, Abnormality of the dentition, Open...	ORPHA:2092
Holoprosencephaly 13, X-Linked	Median cleft lip, Submucous cleft hard palate, Cleft palate, Gastroesophageal reflux, Solitary me...	OMIM:301043
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Perlman Syndrome	Pancreatic islet-cell hyperplasia, Hypoglycemia	OMIM:267000
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv...	ORPHA:79126
Neu-Laxova Syndrome	Abnormal cortical gyration, Spina bifida, Polymicrogyria, Abnormality of neuronal migration, Macr...	ORPHA:2671
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Ataxia, Hydrocephalus, Abnormality of neuronal migra...	ORPHA:2318
Argininemia	Cerebellar atrophy, Irritability, Hyperactivity, Anorexia	OMIM:207800
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph...	OMIM:615934
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Gray matter heterotopia, Lissencephaly, Cerebellar hypoplasia, Dandy-Walker malfor...	OMIM:617822
Tyrosinemia, Type I	Hepatomegaly, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocel...	OMIM:276700
Abetalipoproteinemia	Hepatomegaly, Decreased HDL cholesterol concentration, Reticulocytosis, Hypocholesterolemia, Acan...	ORPHA:14
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cheilitis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal migration	ORPHA:2518
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Elevated circulating C-reactive protein concentration, Orchitis, Splenome...	ORPHA:32960
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Biliary atresia, Cleft pal...	OMIM:115470
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Cleft palate, Acute lymphoblastic leukemia, Colon cancer, Stomach cancer, D...	ORPHA:1052
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Mechanical ileus, Chronic noninfectious lymphadenopathy, Functional intestinal obst...	ORPHA:100079
Mend Syndrome	Hyperactivity, Aggressive behavior, Hydrocephalus, Abnormal social behavior, Failure to thrive, D...	ORPHA:401973
Igg4-Related Pachymeningitis	Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis, Dysphagia, Pa...	ORPHA:449427
Beckwith-Wiedemann Syndrome	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Cryptorchidism,...	ORPHA:116
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Dysphagia, Megaduodenum, Micr...	OMIM:155310
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosple...	ORPHA:464329
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Prolonged neonatal jaundice	ORPHA:423479
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Cerebellar vermis hypoplasia, Ataxia, Tremor, Hydrocephalus, Abnormality...	ORPHA:1454
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cleft palate,...	OMIM:263520
Prader-Willi Syndrome Due To Translocation	Obesity, Head-banging, Compulsive behaviors, Impaired social interactions, Attention deficit hype...	ORPHA:177907
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Asplenia, Posteriorly placed anus, Biliary atresia, Abdominal situs inversus, Polys...	OMIM:306955
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ...	ORPHA:353281
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Thin upper lip vermilion, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenc...	ORPHA:456312
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Noncommunicating...	ORPHA:805
Bilateral Perisylvian Polymicrogyria	Cerebellar vermis hypoplasia, Perisylvian predominant thick cortex pachygyria, Abnormality of neu...	ORPHA:98889
Heterotaxy, Visceral, 5, Autosomal	Intestinal malrotation, Asplenia, Abdominal situs inversus, Abdominal situs ambiguus, Duodenal at...	OMIM:270100
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Thin upper lip vermilion, Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, G...	OMIM:620233
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
African Trypanosomiasis	Somatic sensory dysfunction, Aggressive behavior, Tremor, Narcolepsy, Myelopathy, Impaired propri...	ORPHA:3385
Diamond-Blackfan Anemia 1	Macrocytic anemia, Cleft upper lip, Congenital hypoplastic anemia, Reticulocytopenia, Cleft palat...	OMIM:105650
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia, Cryptorchidism...	ORPHA:564
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Diets-Jongmans Syndrome	Wide mouth, Cryptorchidism, Thin upper lip vermilion, Duodenal atresia	OMIM:618846
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Abnormal pons morphology, Aggressive behavior	ORPHA:85327
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Oral ulcer, Lymphadenopathy, Hepatosplen...	OMIM:260920
3C Syndrome	Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Abnormality of neuronal migration, Dandy-Wal...	ORPHA:7
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia, Elevated circulating luteinizing hormone level	OMIM:250790
Dyrk1A-Related Intellectual Disability Syndrome	Anterior pituitary hypoplasia, Cryptorchidism, Pyloric stenosis, Gastroesophageal reflux, Breast ...	ORPHA:464306
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology	ORPHA:2847
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy...	ORPHA:31150
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophilia, Malabsorption, Splenomegaly...	ORPHA:3260
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas...	ORPHA:331235
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Enanthema, Hepatitis, Lymphadenopathy, Lymphocytosis	ORPHA:139402
Malakoplakia	Follicular hyperplasia, Orchitis, Abnormality of the tongue, Neoplasm of the rectum, Neoplasm of ...	ORPHA:556
Lead Poisoning	Delayed eruption of teeth, Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthes...	ORPHA:330015
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Failure to thrive, Cerebellar vermis hypoplasia, Small for gestational ag...	OMIM:620024
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Desmosterolosis	Failure to thrive, Abnormal cortical gyration, Hydrocephalus, Abnormality of neuronal migration, ...	ORPHA:35107
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Reduced C-peptide level, Hypoamylasemia, High palate, Solitary median maxilla...	ORPHA:556955
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Vici Syndrome	Hypoplasia of the pons, Gray matter heterotopia, Cerebellar hypoplasia	ORPHA:1493
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Hypocalcemia, Lym...	OMIM:619991
Narcolepsy 7	Narcolepsy, Obesity	OMIM:614250
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Ataxia, Tremor, Abnormality of neuronal migration, Failure to thrive	ORPHA:2754
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cerebellar dysplasia, Encephalocele, Partial absence of cerebellar vermis, Hydrocephalus, Cerebel...	OMIM:613150
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria	ORPHA:2512
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Polymicrogyria, Cerebellar hypoplasia	OMIM:617397
Marburg Hemorrhagic Fever	Abnormality of the gastrointestinal tract, Reticulocytosis, Lymphopenia, Elevated circulating cre...	ORPHA:99826
6Q Terminal Deletion Syndrome	Periventricular heterotopia, Obesity, Dysmetria, Gait ataxia, Abnormality of neuronal migration, ...	ORPHA:75857
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Carious teeth, Xerostomia, Lacrimal g...	OMIM:149730
Metachromatic Leukodystrophy	Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallblad...	ORPHA:512
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Cryptorchidism, Supernumerary tooth, Hypoplasia of teeth, Anteriorly p...	OMIM:268400
Iniencephaly	Duodenal atresia, Anal atresia, Orofacial cleft, Narrow mouth	ORPHA:63259
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cryptorchidism, Duodenal atresia, Smooth philtrum, Narrow mouth	ORPHA:468631
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Cryptorchidism, Posterior pituitary hypoplasia, Gastroesophageal reflux, Duodenal atresia	ORPHA:464311
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Atrophic gastritis, Generalized lymphadenopathy, Hemolytic anemia, Pancytopenia, He...	OMIM:615846
Holoprosencephaly	Encephalocele, Failure to thrive in infancy, Chorea, Hydrocephalus, Abnormality of neuronal migra...	ORPHA:2162
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Conjugated hyperbilirubinemia, J...	OMIM:208500
Coffin-Lowry Syndrome	Aplasia/Hypoplasia of the cerebellum, Self-injurious behavior, Abnormality of neuronal migration	ORPHA:192
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Dystonia, Ataxia, Tremor, Phonic tics, Depression, Choreoathetosis, Blepharospasm,...	OMIM:234200
Scedosporiosis	Abnormal jejunum morphology	ORPHA:449280
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Hyperactivity, Tremor, Pachygyria, Choreoathetosis, Self-injurious behavior, ...	ORPHA:1934
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Decreased response to growth hormone stimulation test, Retroperitoneal fibrosis, Sp...	OMIM:602782
Tarp Syndrome	Extramedullary hematopoiesis, Cryptorchidism, Pierre-Robin sequence, Alveolar ridge overgrowth, C...	ORPHA:2886
Koolen-De Vries Syndrome Due To A Point Mutation	Small for gestational age, Spina bifida, Hydrocephalus, Chiari type I malformation, Inappropriate...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Small for gestational age, Spina bifida, Hydrocephalus, Chiari type I malformation, Inappropriate...	ORPHA:363958
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:36412
Carnitine Palmitoyltransferase Ii Deficiency	Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Polym...	ORPHA:157
Trisomy 8P	Cryptorchidism, Malrotation of small bowel, Cleft palate, Thin vermilion border, Aplasia/Hypoplas...	ORPHA:264450
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Jacobsen Syndrome	Cryptorchidism, Pyloric stenosis, Annular pancreas, U-Shaped upper lip vermilion, Thrombocytopenia	OMIM:147791
Zygomycosis	Gastrointestinal hemorrhage, Gastritis, Hematemesis, Mediastinal lymphadenopathy, Peritonitis, He...	ORPHA:73263
Galloway-Mowat Syndrome	Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration, Cognitive impairment	ORPHA:2065
Dihydropyrimidine Dehydrogenase Deficiency	Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior	ORPHA:1675
Neuroendocrine Tumor Of The Colon	Melena, Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Chronic noninfectious lymphadenopathy, Hematemesis, Melena, Iron deficiency anemia,...	ORPHA:100075
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Lymphadenopathy, Hepatosplenom...	ORPHA:333
Brucellosis	Abnormality of the gastrointestinal tract, Hepatomegaly, Liver abscess, Elevated circulating C-re...	ORPHA:1304
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Q Fever	Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hepatosplenomegaly, Abn...	ORPHA:781
Cerebrofacioarticular Syndrome	Gray matter heterotopia, Self-injurious behavior, Cerebellar vermis hypoplasia, Ataxia	ORPHA:314679
Thanatophoric Dysplasia	Gray matter heterotopia, Hydrocephalus	ORPHA:2655
Spondyloocular Syndrome	Abnormality of the dentition, Unilateral cryptorchidism, Duodenal ulcer	OMIM:605822
Nephronophthisis 13	Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:614377
Holoprosencephaly 14	Cerebellar atrophy, Periventricular heterotopia, Alobar holoprosencephaly, Aqueductal stenosis, P...	OMIM:619895
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal mesente...	ORPHA:284
Charge Syndrome	Hypoparathyroidism, Anal stenosis, Decreased response to growth hormone stimulation test, Cleft u...	OMIM:214800
Neuroendocrine Tumor Of The Rectum	Hematochezia, Hepatomegaly, Chronic noninfectious lymphadenopathy, Melena	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Hepatomegaly, Chronic noninfectious lymphadenopathy, Melena	ORPHA:100082
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Orofaciodigital Syndrome I	Median cleft lip, Hamartoma of tongue, Cleft upper lip, Pancreatic cysts, Carious teeth, Supernum...	OMIM:311200
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Elevated circulating creatine kinas...	ORPHA:99827
Meckel Syndrome, Type 7	Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d...	OMIM:267010
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Hypercalcemia, Thyroid C cell hyperplasia, Cervical lymphadenopathy, Prima...	ORPHA:653
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration, Cognitive impairment	ORPHA:2063
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Rat-Bite Fever	Anemia, Lymphadenitis, Pancreatitis, Parotitis	ORPHA:31205
Orofaciodigital Syndrome Type 1	Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Hamartoma of tongue...	ORPHA:2750
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, High palate	OMIM:618162
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cerebellar vermis hypoplasia, Hydrocephalus, Abnormality of neuronal migration, Pachygyria, Polym...	ORPHA:228308
Lymphatic Filariasis	Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel...	ORPHA:2035
1P36 Deletion Syndrome	Abnormality of the spleen, Cryptorchidism, Pyloric stenosis, Dysphagia, Abnormality of the liver,...	ORPHA:1606
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Downturned corners of mouth, Annular pancreas, Ankyloglossia, Cleft palate	ORPHA:488642
Behçet Disease	Gastrointestinal hemorrhage, Malabsorption, Orchitis, Splenomegaly, Oral ulcer, Lymphadenopathy, ...	ORPHA:117
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ...	ORPHA:353277
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Premature loss of primary teeth, Splenomegaly, Lymphaden...	ORPHA:667
Senior-Loken Syndrome 8	Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:616307
Coffin-Siris Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Duodenal ulcer, Intestinal malrotation, Coni...	OMIM:135900
Poems Syndrome	Thrombocytosis, Polycythemia, Increased circulating prolactin concentration, Lymphadenopathy	ORPHA:2905
Narcolepsy 1	Narcolepsy	OMIM:161400
Narcolepsy 3	Narcolepsy	OMIM:609039
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogy...	ORPHA:2211
Fraser Syndrome 1	Abnormal small intestine morphology, Dental crowding, Cleft upper lip, Cryptorchidism, Dental mal...	OMIM:219000
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Streak ovary, Aganglionic megacolon, Myeloid leukemia, Abnormality of ...	ORPHA:798
Trichothiodystrophy	Reduced social reciprocity, Intention tremor, Diffuse cerebellar atrophy, Gait ataxia	ORPHA:33364
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pheochromocytoma, Hepatic hemangioma, Polycythemia	OMIM:193300
16P13.11 Microdeletion Syndrome	Self-injurious behavior, Holoprosencephaly, Abnormality of neuronal migration, Compulsive behaviors	ORPHA:261236
Systemic Lupus Erythematosus	Hemolytic anemia, Cheilitis, Oral ulcer, Lymphadenopathy, Abnormal pigmentation of the oral mucos...	ORPHA:536
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating...	OMIM:256040
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Thrombocytopenia, Xerostomia, Biliary cirrhosis, Chr...	ORPHA:289390
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Hypoglycemia, Splenomegaly, Pancreatic islet-cell hyperplasia, Polysplenia, Hepatob...	ORPHA:373
Greenberg Dysplasia	Hepatomegaly, Pancreatic islet-cell hyperplasia, Hepatic calcification, Hepatosplenomegaly	OMIM:215140
Bohring-Opitz Syndrome	Cleft lip, Cleft palate, Cholelithiasis, Annular pancreas, Prominent palatine ridges	ORPHA:97297
Arima Syndrome	Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ataxia, Gr...	OMIM:243910
Koolen-De Vries Syndrome	Hyperactivity, Small for gestational age, Impulsivity, Gray matter heterotopia, Failure to thrive	OMIM:610443
Genitourinary And/Or Brain Malformation Syndrome	Gray matter heterotopia, Chiari malformation, Holoprosencephaly, Attention deficit hyperactivity ...	OMIM:618820
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia, Fatigable weakness of neck muscles, Dysphagia	ORPHA:26791
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Type II liss...	OMIM:615287
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Adrenal hyperplasia, Neoplasm...	ORPHA:99889
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Simplified gyral pattern, Gray matter heterotopia, Li...	OMIM:615219
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis	OMIM:615503
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Cleft palate, Hepatosplenomegaly,...	OMIM:274000
Williams Syndrome	Ataxia, Failure to thrive in infancy, Tremor, Spina bifida occulta, Obesity, Dysmetria, Depressio...	ORPHA:904
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia	OMIM:607944
Townes-Brocks Syndrome 1	Anal stenosis, Rectoperineal fistula, Cryptorchidism, Tracheoesophageal fistula, Rectovaginal fis...	OMIM:107480
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Thin upper lip vermilion, Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, Hi...	OMIM:601776
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Hydrocephalus	OMIM:187600
Kawasaki Disease	Cervical lymphadenopathy, Jaundice, Leukocytosis, Cheilitis, Hepatitis, Cholecystitis, Glossitis	ORPHA:2331
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Periventricular ...	OMIM:601390
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Hydrocephalus	ORPHA:1860
Nijmegen Breakage Syndrome	Mental deterioration, Cachexia, Abnormality of neuronal migration, Attention deficit hyperactivit...	ORPHA:647
Vici Syndrome	Gray matter heterotopia, Failure to thrive, Cerebellar vermis hypoplasia, Dysphagia	OMIM:242840
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polymicrogyria, Abnormality of neuronal migration	OMIM:608836
Acromelic Frontonasal Dysostosis	Retrocerebellar cyst, Gray matter heterotopia, Periventricular nodular heterotopia, Encephalocele	OMIM:603671
Peroxisome Biogenesis Disorder 1A (Zellweger)	Gray matter heterotopia, Failure to thrive, Polymicrogyria, Dysphagia	OMIM:214100
Aicardi Syndrome	Cerebellar vermis hypoplasia, Spina bifida, Gray matter heterotopia, Chiari malformation, Pachygy...	OMIM:304050
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Compulsive behaviors, Attention deficit hyperactivity disorder, Perivent...	OMIM:618918
Plague	Chapped lip, Hepatomegaly, Hematemesis, Splenomegaly, Lymphadenitis, Enterocolitis, Enlarged mese...	ORPHA:707
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system,...	ORPHA:538
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Hydrocephalus, Attention deficit hyperactivity disorder	OMIM:305450
Coccidioidomycosis	Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymphadenopath...	ORPHA:228123
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia, Failure to thrive, Bruxism, Impaired pain sensation	ORPHA:453499
Mosaic Trisomy 16	Anteriorly placed anus, Abnormality of the gastrointestinal tract, Meckel diverticulum, Wide mouth	ORPHA:1708
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Nephronophthisis-Like Nephropathy 1	Pancreatic cysts, Chronic pancreatitis	OMIM:613159
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia, Obesity	OMIM:608624
Orofaciodigital Syndrome Xvi	Gray matter heterotopia, Ataxia	OMIM:617563
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Abnormal cortical gyration, Progress...	OMIM:210710
Wolf-Hirschhorn Syndrome	Accessory spleen, Cleft upper lip, Cryptorchidism, Malrotation of small bowel, Biliary tract abno...	OMIM:194190
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Exaggerated median tongue furrow, Intestinal malrotation, Supernumerary nipple, Cry...	OMIM:312870
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Intestinal malrotation, Biliary atresia, Pancreatic aplasia, Aplasia/Hypoplasia of the gallbladde...	ORPHA:2255
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia	ORPHA:531151
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:614887
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia	OMIM:615546
Leptospirosis	Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Hyperproteinemia, Thrombocytopenia	ORPHA:509
Fontaine Progeroid Syndrome	Cerebellar vermis hypoplasia, Small for gestational age, Periventricular heterotopia, Hydrocephal...	OMIM:612289
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus	OMIM:219730
Chikungunya	Cervical lymphadenopathy, Gingival bleeding, Lymphadenopathy	ORPHA:324625
Aprosencephaly And Cerebellar Dysgenesis	Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia	OMIM:601374
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gray matter heterotopia, Bruxism, Impaired pain sensation	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gray matter heterotopia, Bruxism, Impaired pain sensation	ORPHA:352665
Pagod Syndrome	Encephalocele, Meningocele, Abnormality of neuronal migration, Spina bifida	ORPHA:991
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Holoprosencephaly, Abnormality of neuronal migration	ORPHA:3186
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Severe hydrocephalus, Dandy-Wal...	OMIM:236680
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia	OMIM:276300
Proteus Syndrome	Gray matter heterotopia, Cachexia	ORPHA:744

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 Cadps2

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 Cadps2.

No publications found that use IMPC mice or data for Cadps2.

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MGI Allele	Allele Type	Produced
Cadps2^{em2(IMPC)Rbrc}	Exon Deletion	Mice
Cadps2^{em1(IMPC)Rbrc}	Exon Deletion	Mice
Cadps2^{tm368660(L1L2_Bact_P)}	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: Cadps2 MGI:2443963

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Gross Pathology and Tissue Collection

X-ray

Eye Morphology

X-ray

Gross Pathology and Tissue Collection

Eye Morphology

Human diseases caused by Cadps2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data