Gene Summary

Name:
Ca2+-dependent activator protein for secretion 2
Synonyms:
Caps2,  A230044C21Rik,  cpd2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
abnormal ileum morphology Cadps2em1(IMPC)Rbrc HOM Late adult 0.00
abnormal pancreas morphology Cadps2em1(IMPC)Rbrc HOM Late adult 0.00
abnormal duodenum morphology Cadps2em1(IMPC)Rbrc HOM Late adult 0.00
abnormal salivary gland morphology Cadps2em1(IMPC)Rbrc HOM Late adult 0.00
abnormal jejunum morphology Cadps2em1(IMPC)Rbrc HOM Late adult 0.00
abnormal pancreas morphology Cadps2em1(IMPC)Rbrc HOM Early adult 0.00
abnormal mean corpuscular hemoglobin Cadps2em1(IMPC)Rbrc HOM   Late adult 3.68×10-06
increased circulating amylase level Cadps2em1(IMPC)Rbrc HOM   Early adult 8.54×10-05
abnormal circulating alkaline phosphatase level Cadps2em1(IMPC)Rbrc HOM Late adult 1.50×10-05
abnormal lymph node morphology Cadps2em1(IMPC)Rbrc HOM Late adult 0.00
enlarged lymph nodes Cadps2em1(IMPC)Rbrc HOM Late adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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.

Gross Pathology and Tissue Collection

Images

17 Images

Gross Pathology and Tissue Collection

Images

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Eye Morphology

Images Slit Lamp

2 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus, Abnormality of the pancreas OMIM:167755
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
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 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures 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
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration ORPHA:206599
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Kimura Disease
Abnormal salivary gland morphology, Eosinophilia, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... OMIM:619290
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy, Esophageal carcinoma ORPHA:99977
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Lymphadenopathy, Anemia, Malabsorption, Splenom... ORPHA:100025
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Carcinoma Of Esophagus
Abnormal intestine morphology, Dysphagia, Esophageal neoplasm, Lymphadenopathy, Barrett esophagus... ORPHA:70482
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic ... OMIM:618495
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality ... ORPHA:543
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Attention deficit hyperactivity disorder, Gait ataxia, Shyness OMIM:618221
Mantle Cell Lymphoma
Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly ORPHA:52416
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormality of neuronal migration, Aggressive behavior, Simplified gyral pattern, Hyperactivity, ... OMIM:604317
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice OMIM:312500
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology, Hyponatremia ORPHA:3225
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Adenocarcinoma Of The Esophagus
Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy, Esophageal carcinoma ORPHA:99976
Mucocutaneous Ulceration, Chronic
Oral ulcer, Ileitis OMIM:618287
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Hemochromatosis Type 2
Congenital hepatic fibrosis, Abnormality of endocrine pancreas physiology, Diabetes mellitus, Hyp... ORPHA:79230
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Juvenile Huntington Disease
Dystonia, Dementia, Cerebellar atrophy, Chorea, Weight loss, Bradykinesia, Hyperactivity, Progres... ORPHA:248111
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Delayed social development, Hypoplasia of the pons, Periventricular ribbonlike heterotopia, Cereb... OMIM:618677
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Variant Abeta2M Amyloidosis
Abnormal salivary gland morphology, Gastrointestinal infarctions, Intestinal perforation, Abnorma... ORPHA:314652
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Malabsorption, Intesti... OMIM:615710
Lissencephaly 1
Subcortical band heterotopia, Pachygyria, Agyria, Cerebellar hypoplasia, Gray matter heterotopia,... OMIM:607432
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatospleno... OMIM:613101
Van Der Woude Syndrome
Abnormal salivary gland morphology, Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Lip... ORPHA:888
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Martinez-Frias Syndrome
Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Jejunal atresia, Intestinal malrotatio... OMIM:601346
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Episodic hyperhi... ORPHA:276580
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Spinocerebellar Ataxia 12
Dementia, Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadoc... OMIM:604326
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Episodic hyperhidrosis, Focal pancr... ORPHA:276575
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Protein-losing enteropathy OMIM:615863
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Failure to thrive, Poor eye contact, Periventricular heterot... OMIM:608097
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Lymphadenopathy, Splenomegaly, Oral ulcer, T lymphocytopenia OMIM:608971
Pfapa Syndrome
Abnormal oral cavity morphology, Hepatomegaly, Lymphadenopathy, Malabsorption, Splenomegaly ORPHA:42642
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Large for gestational age ORPHA:356996
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Celiac disease, Decreased pr... OMIM:619375
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis, Oral ulcer OMIM:618852
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Cerebellar atrophy, Ataxia, Simplified gyral pattern OMIM:613402
Spinocerebellar Ataxia 14
Impaired vibration sensation at ankles, Cerebellar atrophy, Dysmetria, Focal dystonia, Progressiv... OMIM:605361
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Lissencephaly 3
Ataxia, Cerebellar vermis hypoplasia, Pachygyria, Polymicrogyria, Agyria, Gray matter heterotopia... OMIM:611603
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Spinocerebellar Ataxia 48
Dystonia, Cachexia, Cerebellar atrophy, Dysmetria, Chorea, Tremor, Ataxia, Irritability, Mental d... OMIM:618093
Jejunal Atresia
Jejunal atresia OMIM:243600
Microlissencephaly
Cerebellar atrophy, Periventricular heterotopia, Simplified gyral pattern, Pachygyria, Polymicrog... ORPHA:1083
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Dementia, Inappropriate behavior, Motor deterioration, Abnormal neuron morphology, Falls, Shuffli... ORPHA:412066
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Lymphopenia, Colitis OMIM:619164
Duodenal Atresia
Abnormality of the pancreas, Duodenal atresia, Annular pancreas ORPHA:1203
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Co... ORPHA:97290
Dopa-Responsive Dystonia
Dystonia, Gait disturbance, Arm dystonia, Panic attack, Agoraphobia, Fatigable weakness, Tremor, ... ORPHA:255
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration, Skin-picking, Abnormal neuron morphology, Aggressive behavior,... ORPHA:163681
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Hydrocephalus, Polymicrogyria, Cerebellar hypoplasia, Gray matter heterotopia OMIM:604213
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Igg4-Related Submandibular Gland Disease
Abnormal salivary gland morphology, Cholangitis, Xerostomia, Abnormal pancreas morphology, Retrop... ORPHA:449432
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Co... ORPHA:319487
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin ... OMIM:603552
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Dementia, Cerebellar atrophy, Narcolepsy, Ataxia, Depression, Memory impairment OMIM:604121
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Refractory Celiac Disease
Jejunitis, Hypoproteinemia, Macrocytic anemia, Villous atrophy, Normocytic anemia, Iron deficienc... ORPHA:398063
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional l... ORPHA:71517
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Episodic hyperhidrosis, Hypoketotic hypoglycemia, Excessive insulin response to glu... ORPHA:276556
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption OMIM:221400
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Partial absence of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar vermis, Poor eye conta... ORPHA:137831
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... OMIM:260370
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Lymphangiectasis, Villous atrophy, Hepatic fibrosis, Cirrhosis, Hypoalbuminemia, Pr... OMIM:602579
Brooke-Spiegler Syndrome
Abnormality of the submandibular glands, Salivary gland neoplasm, Abnormality of the sublingual g... ORPHA:79493
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Lymphadenopathy, Neo... ORPHA:424019
Sickle Cell Anemia
Abnormality of the spleen, Leukocytosis, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Laryngeal Neuroendocrine Tumor
Oral-pharyngeal dysphagia, Elevated carcinoembryonic antigen level, Chronic noninfectious lymphad... ORPHA:100083
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Poor eye contact, Tremor, Hyperactivity, Ataxia OMIM:300983
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:610947
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia OMIM:616531
Pancreatic Lipase Deficiency
Hypolipidemia, Steatorrhea, Fat malabsorption OMIM:614338
Insulinoma
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Fasting hy... ORPHA:97279
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... OMIM:619126
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Spinocerebellar Ataxia Type 29
Cerebellar atrophy, Dysmetria, Delayed social development, Cognitive impairment, Intention tremor... ORPHA:208513
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Pseudomyxoma Peritonei
Lymphadenopathy, Intestinal obstruction, Inflammation of the large intestine, Abnormality of the ... ORPHA:26790
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Gait disturbance, Small for gestational age, Increased body ma... OMIM:300957
11Q22.2Q22.3 Microdeletion Syndrome
Obesity, Poor eye contact, Abnormal social behavior, Anxiety, Attention deficit hyperactivity dis... ORPHA:444002
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnormality of the p... ORPHA:54251
Childhood Disintegrative Disorder
Dementia, Social and occupational deterioration, Impaired social interactions, Mental deteriorati... ORPHA:168782
Niemann-Pick Disease Type C
Apathy, Progressive gait ataxia, Progressive neurologic deterioration, Abnormal social behavior, ... ORPHA:646
Huntington Disease-Like 2
Dystonia, Dementia, Chorea, Weight loss, Apathy, Bradykinesia, Irritability, Action tremor, Anxie... OMIM:606438
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer, Hyperpepsinogenemia I OMIM:126840
Feingold Syndrome
Abnormality of the spleen, Duodenal atresia, Annular pancreas, Esophageal atresia, Oral cleft ORPHA:1305
Beta-Thalassemia
Hepatomegaly, Abnormality of iron homeostasis, Hepatitis, Abnormal hemoglobin, Cholelithiasis, An... ORPHA:848
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Intestinal atresia, Anemia, Duodenal atresia ORPHA:3405
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Ataxia, Attention deficit hyperactivity disorder, Hydrocephalus OMIM:618709
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer, Hyperpepsinogenemia I OMIM:126850
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Villous atrophy, Anemia, Splenomegaly, Increased circulating ferritin concentrat... OMIM:616050
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Polysplenia, Duodenal atresia, Intestinal malrotation OMIM:619608
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Pancreatic Colipase Deficiency
Megaloblastic anemia, Cholelithiasis, Steatorrhea, Exocrine pancreatic insufficiency, Fat malabso... ORPHA:309108
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:615411
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy, Hepatomegaly, Elevated circulating creatine kinase concentration OMIM:615895
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Abnormal peristalsis, Intestinal malrotation, Decreased int... OMIM:615237
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Eosinophilic Gastroenteritis
Leukocytosis, Dysphagia, Anemia, Malabsorption, Abnormality of the gastrointestinal tract, Steato... ORPHA:2070
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Cerebellar atrophy, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Esophagitis, Duodenitis, Gastritis, Pancolitis, Protein-losing ent... OMIM:619079
Diarrhea 2, With Microvillus Atrophy
Abnormal intestine morphology, Villous atrophy OMIM:251850
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Cerebellar atrophy, Dysmetria, Aggressive behavior, Cognitive impairment, Bradykinesia,... OMIM:615157
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety, Cerebellar hypoplasia ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety, Cerebellar hypoplasia OMIM:300979
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Ataxia, Cognitive impairment, Failure to thrive ORPHA:1314
Al Amyloidosis
Abnormal salivary gland morphology, Hepatomegaly, Dysphagia, Macroglossia, Xerostomia, Anemia, Ab... ORPHA:85443
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Neoplasm of the pan... ORPHA:83469
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Simplified gyral pattern, Tremor, Hyperactivity, Hydrocephalus, Broad-based ... OMIM:619470
Cyclic Neutropenia
Cervical lymphadenopathy, Premature loss of permanent teeth, Peritonitis, Lymphadenopathy, Decrea... ORPHA:2686
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cerebellar atrophy, Narcolepsy, Ataxia, Resting tremor, Head tremor, Mental deterioration, Depres... ORPHA:314404
Kerion Celsi
Lymphadenopathy ORPHA:499
Cln5 Disease
Cerebellar atrophy, Dysmetria, Aggressive behavior, Tremor, Hyperactivity, Inability to walk, Dys... ORPHA:228360
Diarrhea 9
Villous atrophy OMIM:618168
Early-Onset Schizophrenia
Shyness, Unhappy demeanor, Anxiety, Low self esteem, Suicidal ideation, Cognitive impairment, Lac... ORPHA:96369
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Perisylvian polymicrogyria, Hypoplasia of the pons, Cognitive impairment, Pac... ORPHA:300573
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Lymphadenitis, Splenomegaly, Perianal abscess, Hepatosplenomegaly, Crohn's disea... OMIM:618935
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, I... OMIM:601847
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Increased fecal bile acid, Fat malabsorption OMIM:613291
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Pancreatic islet-cell hyperplasia OMIM:601165
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Agyria OMIM:615412
Perlman Syndrome
High, narrow palate, Hepatomegaly, Smooth philtrum, Abnormality of upper lip, Open mouth, Abnorma... ORPHA:2849
Mental Retardation, Autosomal Dominant 33
Hyperactivity, Decreased body weight OMIM:616311
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... ORPHA:103910
Duodenal Atresia
Duodenal atresia OMIM:223400
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Autoimmune thrombocytopenia, Absence of lymph ... OMIM:608184
Autoinflammatory Syndrome, Familial, Behcet-Like
Hemolytic anemia, Ileal ulcer, Lymphopenia, Oral ulcer, Thrombocytopenia, Colitis OMIM:616744
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Leishmaniasis
Abnormal oral cavity morphology, Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly,... ORPHA:507
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Igg4-Related Thyroid Disease
Dysphagia, Goiter, Retroperitoneal fibrosis, Nodular goiter, Abnormality of the pituitary gland, ... ORPHA:64744
Muir-Torre Syndrome
Neoplasm of the stomach, Adenoma sebaceum, Neoplasm of the liver, Salivary gland neoplasm, Colon ... ORPHA:587
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Volvulus, Malabsorpti... ORPHA:95427
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Malabsorption, Decreased small intestinal mucosa lac... ORPHA:103907
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Failure to thrive, Aggressive behavior, Hyperactivity, Anxiety, Gait a... OMIM:609425
Aminoacylase 1 Deficiency
Hyperactivity, Cerebellar atrophy OMIM:609924
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Polysplenia, Duodenal atresia OMIM:617784
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Succinic Semialdehyde Dehydrogenase Deficiency
Cerebellar atrophy, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety OMIM:271980
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100024
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Sple... OMIM:607765
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Dementia, Cerebellar atrophy, Dysmetria, Bradykinesia, Impaired tandem gait, Int... OMIM:300623
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Melioidosis
Abnormality of the spleen, Splenic abscess, Abnormal parotid gland morphology, Hepatitis, Parotit... ORPHA:31202
Glycosylphosphatidylinositol Biosynthesis Defect 17
Overfriendliness, Aggressive behavior OMIM:618010
Immunodeficiency 52
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... OMIM:617514
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Stomatitis, Lymphadenopathy, Anemia, Splenomegaly, Increased circulatin... OMIM:613011
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Hyperglycinemia OMIM:619063
Lissencephaly, X-Linked, 1
Ataxia, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:300067
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Shyness, Cerebellar atrophy, Waddling gait, Overweight, Difficulty walking ORPHA:280763
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety OMIM:619031
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar cyst, Cerebellar atrophy, Pachygyria, Tip-toe gait, Gray matter heterotopia, Difficult... ORPHA:370980
Gamma-Heavy Chain Disease
Neoplasm of the tongue, Abnormal palate morphology, Hepatomegaly, Dysphagia, Lymphadenopathy, Abn... ORPHA:100026
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Hyperactivity, Impulsivity, Abnormal social behavior, Anxiety ORPHA:101039
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Biliary tract abnormality, Cholestasis, Fat malabsorption ORPHA:79168
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Tremor, Hyperactivit... ORPHA:3077
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Adenylosuccinase Deficiency
Cerebellar atrophy, Opisthotonus, Happy demeanor, Aggressive behavior, Self-mutilation, Poor eye ... OMIM:103050
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycogen content,... ORPHA:263455
Beta-Thalassemia Intermedia
Hepatomegaly, Hypoparathyroidism, Abnormality of iron homeostasis, Leukocytosis, Elevated hepatic... ORPHA:231222
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Neutropenia, Lymphadenopathy, Coombs-positive hemolytic anemia, Hepatitis, Anemi... OMIM:304790
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Smooth philtrum, Increased mean platelet volume, Intestinal pseudo-obstruction,... OMIM:300048
Oxoglutaric Aciduria
Abnormal salivary gland morphology ORPHA:31
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Hyperbilirubinemia, Cirrhosis, Hepatosplenomegaly, Cholestasis, Fat mala... ORPHA:79302
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, I... OMIM:619350
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Aggressive behavior, Simplified gyral pattern, Tremor, Hyperactivity, Cerebellar ver... OMIM:300354
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Squamous cel... OMIM:618849
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Long philtrum, Anemia, Cholestasis, Hypoalbuminemia, Thrombocytopenia, Cryptorchidi... OMIM:608104
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Matthew-Wood Syndrome
Duodenal stenosis, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morpholo... ORPHA:2470
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly, Recurrent aphthous stomatitis, Elevated circulating ... OMIM:611762
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy OMIM:613217
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy, Recurrent infection of the gastrointestinal tract OMIM:605258
Benign Schwannoma
Abnormal parotid gland morphology, Intestinal polyposis, Abnormality of the liver, Abnormal esoph... ORPHA:252164
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Decreased serum thromboxane B2, Gastric ulcer, Iron deficiency anemia, Abnormal c... OMIM:618372
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Hypercholanemia, Familial 1
Increased serum bile acid concentration, Steatorrhea, Fat malabsorption OMIM:607748
Foxg1 Syndrome
Dystonia, Inappropriate crying, Paroxysmal bursts of laughter, Choreoathetosis, Cognitive impairm... ORPHA:561854
Immunodeficiency 31C
Abnormal intestine morphology, Villous atrophy, Lymphopenia, Autoimmune hemolytic anemia OMIM:614162
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Thrombocytosis, Asplenia, Lymphadenopathy, Coombs-positive hemoly... OMIM:614034
Omenn Syndrome
Hepatomegaly, Hypoproteinemia, B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anem... OMIM:603554
Glycine Encephalopathy
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Hsd10 Disease
Gait disturbance, Choreoathetosis, Tremor, Ataxia, Abnormal social behavior ORPHA:391417
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Lymphadenopathy, Decreased mean platelet volume, Lymphocytos... OMIM:617718
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Landau-Kleffner Syndrome
Steppage gait, Aggressive behavior, Social and occupational deterioration, Hyperactivity, Emotion... ORPHA:98818
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Stomatitis, Lymphadenopathy, Lymphadenitis, Ab... ORPHA:911
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Cirrhosis, Hepatic steatosis, Diab... OMIM:606069
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphadenopathy, Splenomegaly, Crohn's disease, Autoimmune thrombocytopenia, Lympho... OMIM:616100
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior, Failure to thrive OMIM:618362
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Head titubation, Cerebellar dysplasia, Dilated fourth ventricle, Cognitive impai... ORPHA:370022
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Abnormal lymphatic vessel morphology, Increased stool alpha1-antitrypsin concent... ORPHA:90362
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Lymph node hypoplasia, Absent tonsils, Oral ulcer OMIM:602450
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Hydrocephalus, Cerebellar hypoplasia, Gray matter heterotopia, Type II lissencephaly ORPHA:352682
Atypical Rett Syndrome
Dystonia, Gait disturbance, Inappropriate crying, Impaired pain sensation, Poor eye contact, Inap... ORPHA:3095
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Chorea, Claustrophobia, Irritability, Emotio... ORPHA:66624
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Cognitive impairment, Hydrocephalu... OMIM:615181
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia ORPHA:69077
Ck Syndrome
Aggressive behavior, Slender build, Hyperactivity, Pachygyria, Irritability, Polymicrogyria ORPHA:251383
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Candidiasis, Familial, 2
Lymphadenopathy, Hypereosinophilia, Decreased serum iron OMIM:212050
Abetalipoproteinemia
Abetalipoproteinemia, Fat malabsorption, Acanthocytosis OMIM:200100
Diarrhea 12, With Microvillus Atrophy
Microvillus inclusions, Villous atrophy, Microvillar PAS-positive secretory granules OMIM:619445
Igg4-Related Ophthalmic Disease
Cholangitis, Abnormality of the anterior pituitary, Lymphadenopathy, Retroperitoneal fibrosis, Pa... ORPHA:449563
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Increased T ... ORPHA:263665
Castleman Disease
Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Jaundice, Intestinal obstruction, Generaliz... ORPHA:160
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Xerostomia, Gastrointestinal carcinoma, Anemia, Malabsorption, Hypomagnesemia, Gloss... OMIM:175500
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Xerostomia, Lymphadenopathy, Retroperitoneal fibrosis, Nodula... ORPHA:79078
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly ORPHA:545
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Duodenal stenosis, Annular pancreas, Asplenia, Volvulus, Intestinal malrot... ORPHA:210122
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Lissenc... OMIM:613153
Griscelli Syndrome
Pyloric stenosis, Hepatomegaly, Leukopenia, Lymphadenopathy, Abnormal circulating lipid concentra... ORPHA:381
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Elevated circulating crea... ORPHA:85450
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Failure to thrive, Hyperactivity, Aggressive behavior, Cerebellar atrophy ORPHA:369939
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Lymphadenopathy, Leukemia, Anemia, Malabsorption, Ab... ORPHA:98850
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia OMIM:239500
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Hyperbilirubinemia, Prolonged neonatal jaundice, Intrahepatic... OMIM:214950
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Gomez-Lopez-Hernandez Syndrome
Agenesis of cerebellar vermis, Self-injurious behavior, Cognitive impairment, Hyperactivity, Atax... OMIM:601853
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, No social interaction, Impaired social interactions, Obesity ORPHA:329249
Mental Retardation, Autosomal Dominant 13
Abnormality of neuronal migration, Gait disturbance, Cerebellar hypoplasia, Pachygyria OMIM:614563
Morm Syndrome
Hyperactivity, Aggressive behavior, Truncal obesity ORPHA:75858
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal cortical gyration, Dysmetria, Aggressive behavior, Intention tremor, Ataxia, Nonprogress... ORPHA:314647
Alg6-Cdg
Macroglossia, Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration,... ORPHA:79320
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Decreased body weight OMIM:608747
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Rectal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Anemia, Duodenal polypo... ORPHA:329971
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Lissencephaly 5
Subcortical band heterotopia, Cerebellar hemisphere hypoplasia, Cerebellar vermis hypoplasia, Hyd... OMIM:615191
Dominant Beta-Thalassemia
Hypoparathyroidism, Abnormality of iron homeostasis, Hepatic fibrosis, Hepatocellular carcinoma, ... ORPHA:231226
Ck Syndrome
Aggressive behavior, Slender build, Hyperactivity, Pachygyria, Irritability, Polymicrogyria OMIM:300831
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Hyperactivity, Ataxia, Mental deterioration OMIM:615924
Band Heterotopia
Gray matter heterotopia, Subcortical band heterotopia, Hydrocephalus, Polymicrogyria OMIM:600348
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Cerebellar dysplasia, Self-mutilation, Tremor, Overweight, Anxiety, Depression ORPHA:457240
Pancreatitis, Hereditary
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Steatorrhea, Exocrine pancreatic i... OMIM:167800
Rosaï-Dorfman Disease
Lymphadenopathy, Anemia ORPHA:158014
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunoileal diverticula, Ulcerative colitis, Jejunal diverticula OMIM:223320
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic cysts, Hepatic fibrosis, Asplenia, Bile duct proliferation, Hepatic cyst... OMIM:208540
Beta-Thalassemia Major
Hepatomegaly, Hypoparathyroidism, Abnormality of iron homeostasis, Anisopoikilocytosis, Hepatic f... ORPHA:231214
Familial Pancreatic Carcinoma
Intestinal pseudo-obstruction, Peritoneal abscess, Lymphadenopathy, Functional intestinal obstruc... ORPHA:1333
Feingold Syndrome 1
High palate, Duodenal atresia, Asplenia, Annular pancreas, Esophageal atresia, Accessory spleen, ... OMIM:164280
Lennox-Gastaut Syndrome
Aggressive behavior, Falls, Hyperactivity, Personality disorder, Mental deterioration ORPHA:2382
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Lymphoproliferative Syndrome 3
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Acalvaria
Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spina... ORPHA:945
Phenylketonuria
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... OMIM:261600
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Vascular Hyalinosis
Protein-losing enteropathy, Malabsorption, Hematochezia OMIM:277175
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Polymicrogyria, Subcortical heterotopia ORPHA:101029
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Cerebellar atrophy, Psychomotor deterioration, Cerebellar gliosis, Hy... ORPHA:35069
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Increased circulatin... ORPHA:158061
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Impulsivity ORPHA:100973
Donohue Syndrome
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Precocious puberty, Pancreatic islet-cell ... OMIM:246200
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:617201
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... OMIM:300853
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Cerebellar atrophy, Dysmetria, Chorea, Bradykinesia, Intention tremor, Hyperactivity, D... OMIM:610217
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, Hypoproteinemia, Smooth philtrum, High palate, Cleft pa... OMIM:235255
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Hepatomegaly, Inflammation of the large intestine, Mediastina... OMIM:181000
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Gastrointestinal hemorrhage, Hypoalbuminemia, Portal hypertension... ORPHA:79319
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Leukopenia, Abnormal circulating lipid concentration, Enlarge... ORPHA:2298
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Splenomegaly, Intermitte... OMIM:150550
Pearson Marrow-Pancreas Syndrome
Pancreatic fibrosis, Refractory sideroblastic anemia, Malabsorption OMIM:557000
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Cognitive impairment ORPHA:2216
Cinca Syndrome
Leukocytosis, Lymphadenopathy, Anemia, Hepatosplenomegaly, Eosinophilia, Elevated circulating C-r... OMIM:607115
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, N... OMIM:601859
Kikuchi-Fujimoto Disease
Hepatomegaly, Cervical lymphadenopathy, Neutropenia, Leukopenia, Lymphadenopathy, Anemia, Abnorma... ORPHA:50918
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Lymphadenopathy, Anemia, Splenomegaly ORPHA:37748
Immunodeficiency 72 With Autoinflammation
Lymphadenopathy, Hepatosplenomegaly, Increased B cell count, Increased proportion of memory T cells OMIM:618982
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Aggressive behavior, Tremor, Hyperactivity, Ataxia OMIM:612716
Granulomatous Slack Skin
Hypercalcemia, Abnormality of the lymph nodes ORPHA:33111
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Dementia, Cerebellar atrophy, Motor deterioration, Aggressive behavior, Hyperac... ORPHA:168491
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Leukopenia,... OMIM:267700
Tropical Calcific Pancreatitis
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas, Insulin-dependent but k... OMIM:608189
Young-Onset Parkinson Disease
Dystonia, Dementia, Gait imbalance, Cognitive impairment, Frontal lobe dementia, Apathy, Bradykin... ORPHA:2828
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly ORPHA:79292
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly, Dysphagia ORPHA:50251
Hereditary Chronic Pancreatitis
Pancreatic calcification, Recurrent pancreatitis, Diabetes mellitus, Jaundice ORPHA:676
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Decreased body weight OMIM:618342
Metachromatic Leukodystrophy, Adult Form
Dystonia, Progressive psychomotor deterioration, Dementia, Chorea, Progressive gait ataxia, Inten... ORPHA:309271
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Hyperlipidemia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophago... ORPHA:79477
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Oral ulcer, Aplast... OMIM:615122
Congenital Tufting Enteropathy
Villous atrophy, Malabsorption, Anal atresia, Abnormal small intestinal mucosa morphology, Choles... ORPHA:92050
Congenital Contractural Arachnodactyly
High palate, Tracheoesophageal fistula, Duodenal atresia, Intestinal malrotation ORPHA:115
Poretti-Boltshauser Syndrome
Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gr... OMIM:615960
Myoclonic-Astatic Epilepsy
Tremor, Hyperactivity, Ataxia, Lack of peer relationships, Impaired social interactions, Unsteady... ORPHA:1942
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Abnormality of ... ORPHA:93111
Pancreatic Agenesis 2
Pancreatic hypoplasia, Steatorrhea OMIM:615935
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Cholestatic liver disease, Splenomegaly, Incr... ORPHA:540
Congenital Toxoplasmosis
Hepatomegaly, Lymphadenopathy, Anemia, Thrombocytopenia, Jaundice ORPHA:858
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Abnormality of mesentery morphology, Lymphadenopathy, Lymp... ORPHA:449395
Shwachman-Diamond Syndrome 2
Hepatomegaly, High palate, Neutropenia, Normocytic anemia, Thrombocytopenia, Hyperechogenic pancr... OMIM:617941
Lig4 Syndrome
Hepatomegaly, Leukocytosis, Acute leukemia, Lymphadenopathy, Thin vermilion border, Malabsorption... ORPHA:99812
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... ORPHA:98848
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia, Broad-based gait, Obesity ORPHA:411515
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency 55
Lymphadenopathy, Neutropenia OMIM:617827
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Hyperlipidemia, Abnormal circulating fatty-acid ... ORPHA:567983
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Tonne-Kalscheuer Syndrome
Shyness, Self-injurious behavior, Aggressive behavior, Tremor, Broad-based gait, Anxiety OMIM:300978
Medullary Thyroid Carcinoma
Dysphagia, Lymphadenopathy, Nodular goiter, Abnormal liver parenchyma morphology, Primary hyperpa... ORPHA:1332
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymph node hypoplasia, Increased circulating inosine concentration, Neutropenia in ... OMIM:613179
Bilateral Frontoparietal Polymicrogyria
Gait imbalance, Cerebellar dysplasia, Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnor... ORPHA:101070
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Hyperactivity, Polymicrogyria, Impulsivity, Depression ORPHA:88616
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Hyperactivity, Ataxia, Impaired social interactions, Progressive language de... OMIM:610042
Acquired Hypertrichosis Lanuginosa
Macroglossia, Ovarian neoplasm, Glossitis, Lymphadenopathy ORPHA:2221
Fryns Syndrome
Aganglionic megacolon, High palate, Cleft palate, Duodenal atresia, Long philtrum, Wide mouth, Ec... ORPHA:2059
Adenocarcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Lymphadenopathy, Neoplasm of the liver, Intestinal bleed... ORPHA:424016
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Thrombocytopenia, Stomatitis, Hepatitis, Absence of lymph node germina... OMIM:308230
Chylomicron Retention Disease
Hypocholesterolemia, Acanthocytosis, Increased hepatocellular lipid droplets, Hepatic steatosis, ... ORPHA:71
Tularemia
Leukocytosis, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Thrombocytopenia, Lymphadeno... ORPHA:3392
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Hepatitis, Decreased serum iron, Cirrhosis, Colitis OMIM:614602
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Pan... OMIM:308240
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
B lymphocytopenia, Villous atrophy, Lymphadenopathy, T lymphocytopenia, Decreased proportion of C... OMIM:606367
Colonic Atresia
Abdominal situs inversus, Abnormality of mesentery morphology, Duodenal stenosis, Colonic atresia... ORPHA:1198
Diamond-Blackfan Anemia 6
Macrocytic anemia, Cleft palate, Increased mean corpuscular volume, Cleft upper lip, Bifid uvula,... OMIM:612561
Stromme Syndrome
Cleft palate, Wide mouth, Duodenal atresia, Intestinal malrotation, Jejunal atresia, Accessory sp... OMIM:243605
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Abnormal serum bil... ORPHA:79303
Early-Onset Autosomal Dominant Alzheimer Disease
Dementia, Semantic dementia, Ataxia, Disinhibition, Abnormal social behavior, Memory impairment ORPHA:1020
Trigonocephaly 1
Meckel diverticulum OMIM:190440
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly ORPHA:56425
M├╝llerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hepatomegaly, Hypoproteinemia, High palate, Smooth philtrum, Alveolar... ORPHA:1655
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Shyness, Self-injurious behavior, Aggressive behavior, Poor eye contact, Hyperactivity, Irritabil... ORPHA:449291
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Inflammation of the large intestine, Villous atrophy, Dec... OMIM:614700
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hepatomegaly, Hepatic fibrosis, Pancreatic fibrosis, Polysplenia, Hypoplasia o... OMIM:200995
Metachromatic Leukodystrophy, Juvenile Form
Dystonia, Progressive psychomotor deterioration, Progressive gait ataxia, Intention tremor, Emoti... ORPHA:309263
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Lymphadenopathy, Extrahepatic cholestasis, Jaundice ORPHA:99978
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior OMIM:615541
Anaplastic Thyroid Carcinoma
Dysphagia, Goiter, Lymphadenopathy, Nodular goiter, Tracheoesophageal fistula ORPHA:142
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria, Cerebellar hypoplasia OMIM:608840
Immunodeficiency, Common Variable, 1
Hepatomegaly, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Lymphopenia, T lymphocytopenia, Absence of lymph node germinal... ORPHA:277
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalcemia, Oligodontia, Macroglossia, Splenomegaly, Hypocalcemia, Cryptorchidis... OMIM:618440
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Disorganization of the anterior cerebellar vermis, Self-mutilation, Hyperactivity, Cerebellar ver... OMIM:300486
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Chorea, Aggressive behavior, Progressive cerebellar ataxia, Hyperactivit... ORPHA:485350
Hemimegalencephaly
Abnormal neuron morphology, Pachygyria, Gray matter heterotopia, Polymicrogyria ORPHA:99802
Fanconi Anemia, Complementation Group F
Duodenal atresia, Leukopenia, Decreased response to growth hormone stimulation test, Bone marrow ... OMIM:603467
Pancreatoblastoma
Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormality of the lymph nod... ORPHA:677
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly ORPHA:2584
Joubert Syndrome 30
Dandy-Walker malformation, Superior cerebellar dysplasia, Cerebellar atrophy, Gray matter heterot... OMIM:617622
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia, Cerebellar hypoplasia OMIM:617302
Chronic Granulomatous Disease
Pyloric stenosis, Hepatomegaly, Mediastinal lymphadenopathy, Malabsorption, Splenomegaly, Gingivi... ORPHA:379
Immunodeficiency 10
Lymphadenopathy, Thrombocytopenia, Amelogenesis imperfecta, Autoimmune hemolytic anemia OMIM:612783
47,Xyy Syndrome
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Hyperactivity, Hydrocephalus, Impaired... ORPHA:8
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Self-injurious behavior, Tremor, Hyperactivity, Inability to walk OMIM:618718
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly OMIM:240500
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Lymphadenopathy, Intestinal obstruction, Gastrointestinal hemorrhage, ... ORPHA:343
Aceruloplasminemia
Aceruloplasminemia, Hypochromic microcytic anemia, Elevated hepatic iron concentration, Refractor... ORPHA:48818
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Alg1-Cdg
Abnormality of the gastrointestinal tract, Protein-losing enteropathy, Hypoalbuminemia ORPHA:79327
Thyroid Lymphoma
Lymphadenopathy, Dysphagia, Goiter ORPHA:97285
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly ORPHA:85414
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Thick lower lip vermilion, Aganglionic megacolon, U-Shaped upper lip vermilion, Macroglossia, Vol... ORPHA:847
Mental Retardation, Autosomal Dominant 48
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Dilated fourth ventricle, Cerebellar v... OMIM:617751
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Thrombocytopenia OMIM:618048
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression OMIM:619467
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Impaired pain sensation, Chorea, Aggressive behavior, Hyperactivity, Inability to walk,... ORPHA:500180
Mental Retardation, Autosomal Recessive 13
Hyperactivity, Abnormal cerebellar vermis morphology, Truncal obesity OMIM:613192
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Happy demeanor, Failure to thrive, Hyperactivity, Broad-based gait, Unsteady gait OMIM:617865
Tropical Pancreatitis
Abnormal pancreatic duct morphology, Pancreatic calcification, Chronic calcifying pancreatitis, P... ORPHA:103918
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Hyponatremia, Hypoproteinemia, Leukopenia, Lymphadenopathy, Anemia, Increased total... OMIM:603553
Microform Holoprosencephaly
Cleft palate, Short philtrum, Duodenal atresia, Solitary median maxillary central incisor, Tented... ORPHA:280200
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior, Obesity OMIM:617752
Childhood Absence Epilepsy
Low self esteem, Abnormal social behavior, Anxiety, Attention deficit hyperactivity disorder, Dep... ORPHA:64280
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, High palate, Hypochromic microcytic anemia, Long philtrum, Ma... OMIM:141750
Rasmussen Subacute Encephalitis
Hemidystonia, Cognitive impairment, Hyperactivity, Inability to walk, Irritability, Emotional lab... ORPHA:1929
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Myopathy With Extrapyramidal Signs
Dystonia, Perisylvian polymicrogyria, Choreoathetosis, Cerebellar dysplasia, Chorea, Tremor, Hype... OMIM:615673
Lissencephaly 6 With Microcephaly
Cerebellar atrophy, Microlissencephaly, Periventricular heterotopia, Simplified gyral pattern, Pa... OMIM:616212
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Intestinal malrotation, Duodenal stenosis ORPHA:1759
Shwachman-Diamond Syndrome
Carious teeth, Pancreatic hypoplasia, Neutropenia, Leukemia, Delayed eruption of teeth, Steatorrh... ORPHA:811
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Lymphadenopathy, Splenomegaly, Achalasia ORPHA:3386
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Cerebellar dysplasia, Inability to walk, Cerebellar hypoplasia OMIM:613155
Roifman Syndrome
Hepatomegaly, Long philtrum, Lymphadenopathy, Splenomegaly, Downturned corners of mouth, Thin upp... OMIM:616651
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Juvenile Polyposis Of Infancy
High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Refractory anemia, Anemia, M... ORPHA:79076
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Hydrocele testis OMIM:618154
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Normal pressure hydrocephalus, Torticollis, Delayed social development, Spastic ataxia,... ORPHA:300570
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Splenomegaly, Reduced natural killer cell count, Adrenocorticotrop... OMIM:609981
Progressive Supranuclear Palsy
Dystonia, Dementia, Cognitive impairment, Falls, Bradykinesia, Tremor, Abnormal synaptic transmis... ORPHA:683
Melkersson-Rosenthal Syndrome
Macroglossia, Lymphadenopathy, Furrowed tongue, Cheilitis ORPHA:2483
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Cerebellar atrophy, 4-layered lissencephaly, Microlissencephaly ORPHA:89844
Harrod Syndrome
Pyloric stenosis, High, narrow palate, Aganglionic megacolon, High palate, Malrotation of small b... OMIM:601095
Hypoplasminogenemia
Abnormality of the ovary, Duodenal ulcer, Decreased level of plasminogen, Gingival overgrowth, Pe... ORPHA:722
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Cryptorchidism, High palate, HbH hemoglobin, Microcytic anemia ORPHA:98791
Leber Congenital Amaurosis
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:65
Fanconi Anemia, Complementation Group B
Duodenal atresia, Esophageal atresia, Tracheoesophageal fistula, Thrombocytopenia, Aplastic anemia OMIM:300514
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Radio-Tartaglia Syndrome
Gait imbalance, Aggressive behavior, Poor eye contact, Tremor, Ataxia, Impulsivity, Gray matter h... OMIM:619312
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Lymphadenopathy, Normo... ORPHA:98849
Blau Syndrome
Abnormal salivary gland morphology, Xerostomia, Lymphadenopathy, Anemia, Splenomegaly, Abnormalit... ORPHA:90340
Osteootohepatoenteric Syndrome