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Gene: Anxa1 MGI:96819

Gene Summary

Name:

annexin A1

Synonyms:

Lpc1, Lpc-1, Anx-1, Anx-A1, C430014K04Rik

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 aspartate transaminase level	Anxa1^{em1(IMPC)Ccpcz}	HOM	Early adult	7.19×10^-05
increased circulating alanine transaminase level	Anxa1^{em1(IMPC)Ccpcz}	HOM	Early adult	1.39×10^-05
increased airway resistance	Anxa1^{em1(IMPC)Ccpcz}	HOM	Early adult	2.18×10^-08
small kidney	Anxa1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged uterus	Anxa1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal epididymis morphology	Anxa1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spleen morphology	Anxa1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged heart	Anxa1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
small spleen	Anxa1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased circulating iron level	Anxa1^{em1(IMPC)Ccpcz}	HOM	Early adult	9.87×10^-05
abnormal auditory brainstem response	Anxa1^{em1(IMPC)Ccpcz}	HOM	Early adult	7.58×10^-05
abnormal thymus morphology	Anxa1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged epididymis	Anxa1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged thymus	Anxa1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal heart morphology	Anxa1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal uterus morphology	Anxa1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged spleen	Anxa1^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

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Human diseases caused by Anxa1 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 Anxa1 (0 diseases)
Human diseases predicted to be associated with Anxa1 (1568 diseases)

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

The table below shows human diseases predicted to be associated to Anxa1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pituitary Adenoma 5, Multiple Types	Pituitary adenoma	OMIM:617540
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o...	OMIM:266600
Inflammatory Bowel Disease 11	Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine	OMIM:191390
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Isolated Growth Hormone Deficiency, Type Iv	Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth...	OMIM:618157
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los...	OMIM:619079
Non-Acquired Isolated Growth Hormone Deficiency	Anterior hypopituitarism	ORPHA:631
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet...	ORPHA:2198
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease	OMIM:613148
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Growth Hormone Deficiency, Isolated Partial	Small pituitary gland, Decreased response to growth hormone stimulation test	OMIM:615925
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test	OMIM:262700
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Pituicytoma	Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ...	ORPHA:251623
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Bloody diarrhea	OMIM:619398
Dentin Dysplasia	Increased bone mineral density, Abnormal dental enamel morphology	ORPHA:1653
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Increased bone mineral density, Craniosynostosis	ORPHA:178377
Panhypopituitarism, X-Linked	Panhypopituitarism	OMIM:312000
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism	Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test	OMIM:300123
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ...	ORPHA:411593
Ficolin 3 Deficiency	Necrotizing enterocolitis	OMIM:613860
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:613743
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Sensorineural hearing impairment, Anemia	ORPHA:294
Idiopathic Achalasia	Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Recurrent aspiration pneumonia	ORPHA:930
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp...	ORPHA:3416
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Anorexia, Weight loss	ORPHA:52416
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H...	ORPHA:280356
Familial Partial Lipodystrophy, Köbberling Type	Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Pancreatitis	ORPHA:79084
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Obesity	ORPHA:88643
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar...	ORPHA:26790
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Enterocolitis, Abdominal pain	OMIM:260005
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level	OMIM:103900
Familial Adenomatous Polyposis 2	Adenomatous colonic polyposis, Colon cancer	OMIM:608456
Hirschsprung Disease	Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure...	ORPHA:388
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,...	ORPHA:71526
Hydatidiform Mole	Enlarged uterus, Anemia	ORPHA:99927
Isolated Growth Hormone Deficiency, Type Ii	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te...	OMIM:173100
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co...	ORPHA:160148
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosi...	ORPHA:2790
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Immunodeficiency, Common Variable, 11	Inflammation of the large intestine, Failure to thrive, Crohn's disease, Mucoid diarrhea	OMIM:615767
Flynn-Aird Syndrome	Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens...	OMIM:136300
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue	ORPHA:71529
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Decreased intestinal transit ti...	OMIM:620045
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:613313
Pituitary Adenoma 2, Growth Hormone-Secreting	Pituitary adenoma, Elevated circulating growth hormone concentration	OMIM:300943
Isolated Congenital Hypoglossia/Aglossia	Nasogastric tube feeding in infancy, Cleft palate, Feeding difficulties, Weight loss, Aspiration ...	ORPHA:141152
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Pulmonary Blastoma	Recurrent pneumonia, Weight loss	ORPHA:64741
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Malabsorption, Abdominal pain, Abdominal distention, Gas...	OMIM:613662
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Arthritis, Progressive joint ...	ORPHA:564003
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Hyperinsulinemic Hypoglycemia, Familial, 1	Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:256450
Trichodentoosseous Syndrome	Increased bone mineral density, Taurodontia	OMIM:190320
Multiple Symmetric Lipomatosis	Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology	ORPHA:2398
Combined Oxidative Phosphorylation Deficiency 50	Adrenal insufficiency	OMIM:619025
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F...	OMIM:613217
Polyposis Syndrome, Hereditary Mixed, 2	Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol...	OMIM:610069
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Mandibular pain, Osteopetrosis, Calvarial osteosclerosis, Thickened c...	OMIM:607634
Isolated Osteopoikilosis	Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ...	ORPHA:166119
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,...	OMIM:604367
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis	OMIM:125440
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Abdominal pain	ORPHA:46487
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Colitis, Minimal change glomerulonephritis	OMIM:617006
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Alpha-1-Antitrypsin Deficiency	Hepatocellular carcinoma, Splenomegaly, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchi...	OMIM:613490
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Chronic diarrhea, Atopic dermatitis, Ulcerative colitis, Bronchiectasis, Colonic eosin...	OMIM:617638
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Immunodeficiency 37	Colitis, Infectious encephalitis	OMIM:616098
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty	OMIM:612079
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent...	OMIM:602390
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay...	OMIM:616033
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly	OMIM:604765
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Pfapa Syndrome	Nausea and vomiting, Abdominal pain, Malabsorption, Weight loss, Arthritis, Infectious encephalitis	ORPHA:42642
Lymphoproliferative Syndrome, X-Linked, 2	Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l...	OMIM:300635
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Hemochromatosis, Type 1	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Increased circulating ferritin concent...	OMIM:235200
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti...	ORPHA:231720
Pituitary Hormone Deficiency, Combined, 3	Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati...	OMIM:221750
Ethanolaminosis	Cardiomegaly	OMIM:227150
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno...	ORPHA:2494
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
Immunodeficiency 57 With Autoinflammation	Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes...	OMIM:618108
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis...	OMIM:122860
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin...	OMIM:620303
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism...	ORPHA:3143
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Micrognathia, Wide anterior...	ORPHA:85184
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly, Abnormality of iron homeostasis, Dyspnea	ORPHA:75563
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Trichohepatoenteric Syndrome 2	Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic ...	OMIM:614602
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Tuberculosis	Weight loss	ORPHA:3389
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Hyperinsulinism Due To Hnf1A Deficiency	Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo...	ORPHA:324575
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff...	OMIM:619313
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Recurrent fractures	ORPHA:2773
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Sensorineural hearing impairment, Aminoaciduria, Galactosur...	OMIM:230350
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Esophagitis, Eosinophilic, 2	Failure to thrive, Vomiting, Esophagitis, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Failure to thrive, Vomiting, Esophagitis, Dysphagia	OMIM:610247
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Immunodeficiency 76	Chronic diarrhea, Colitis, Recurrent pneumonia	OMIM:619164
Congenital Enterocyte Heparan Sulfate Deficiency	Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy	ORPHA:103910
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Skin rash, Anterior uveitis, Colitis, Ileal ulcer	OMIM:616744
Triple A Syndrome	Anterior hypopituitarism, Adrenal insufficiency	ORPHA:869
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:403
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Reticular Dysgenesis	Skin rash, Malabsorption, Diarrhea, Weight loss, Chronic otitis media, Failure to thrive	ORPHA:33355
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg...	ORPHA:411696
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis, Flared elbow metaphyses, Micrognathia	ORPHA:1423
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Allergic rhinitis, Malabsorption, Abdominal pain, Diar...	ORPHA:2070
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Wormian bones, Joint hyperflexibility, Osteoporosis	ORPHA:2787
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosi...	OMIM:144750
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:3152
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Pituitary Hormone Deficiency, Combined, 6	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A...	OMIM:613986
Adrenal Hypoplasia, Congenital	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio...	OMIM:300200
Immunodeficiency 70	Furuncle, Celiac disease, Colitis, Recurrent sinusitis, Achalasia	OMIM:618969
Solitary Rectal Ulcer Syndrome	Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con...	ORPHA:209964
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ...	ORPHA:90793
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly, Respiratory insufficiency	ORPHA:139406
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Acute pancreat...	OMIM:151660
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hyp...	ORPHA:276580
Endometriosis, Susceptibility To, 1	Endometriosis	OMIM:131200
Hjv Or Hamp-Related Hemochromatosis	Increased circulating ferritin concentration, Elevated transferrin saturation, Congenital hepatic...	ORPHA:79230
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Micrognathia, Wide anterior fontanel, Abnormality of the elbow, F...	ORPHA:163649
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,...	ORPHA:276608
Immunodeficiency 54	Adrenal insufficiency, Adrenocorticotropic hormone excess	OMIM:609981
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, In...	OMIM:620010
Linear Iga Dermatosis	Inflammation of the large intestine	ORPHA:46488
Malignant Peritoneal Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss	ORPHA:168811
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Dental malocc...	ORPHA:210110
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Hyperext...	OMIM:610967
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt...	ORPHA:300373
Isolated Anencephaly/Exencephaly	Primary adrenal insufficiency	ORPHA:1048
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne	OMIM:604416
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev...	OMIM:219080
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent...	OMIM:615842
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Immunodeficiency 14B, Autosomal Recessive	Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si...	OMIM:619281
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Multifocal epileptiform discharges, Cardiomyopathy, Hypogonadism	OMIM:608540
Laryngeal Neuroendocrine Tumor	Weight loss, Anorexia, Oral-pharyngeal dysphagia	ORPHA:100083
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno...	OMIM:131100
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ...	OMIM:209920
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating...	OMIM:615954
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:606762
Ane Syndrome	Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h...	ORPHA:157954
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ...	OMIM:613960
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95513
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Acute pancreatitis, Lipodystrophy, Increased subcut...	OMIM:608600
Hirschsprung Disease, Susceptibility To, 3	Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon	OMIM:613711
Adenohypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95512
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation	ORPHA:2978
Obesity Due To Congenital Leptin Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:66628
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Cryptorchidism, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty	OMIM:612702
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Low-frequency s...	OMIM:613101
Lipase Deficiency, Combined	Type II diabetes mellitus, Lipodystrophy, Pancreatitis	OMIM:246650
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hypoglycemia, Hyperins...	ORPHA:276575
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Acth Deficiency, Isolated	Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia	OMIM:201400
Pycnodysostosis	Increased bone mineral density, Persistent open anterior fontanelle, Delayed eruption of primary ...	OMIM:265800
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Pigmented Nodular Adrenocortical Disease, Primary, 4	Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp...	OMIM:615830
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hearing impairment, Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic ...	OMIM:619658
Microphthalmia, Syndromic 12	Cryptorchidism, Hypoplastic left atrium, Ventricular septal defect, Bicornuate uterus	OMIM:615524
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Insulin resistance, H...	ORPHA:363400
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia	OMIM:618160
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Skin rash, Feeding difficulties in infancy, Secretory diarrhea, Enterocolitis, F...	OMIM:616050
Obesity Due To Leptin Receptor Gene Deficiency	Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse...	ORPHA:179494
Immunodeficiency 104	Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose...	ORPHA:2457
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Rudiger Syndrome	Ovarian cyst, Micropenis, Bicornuate uterus, Ureterovesical stenosis	OMIM:268650
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Respiratory insufficie...	ORPHA:1046
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Small pituitary gland	OMIM:614880
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ...	OMIM:269920
Undifferentiated Pleomorphic Sarcoma	Anorexia, Weight loss	ORPHA:2023
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	OMIM:603552
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Lethal Osteosclerotic Bone Dysplasia	Micrognathia, Large fontanelles, Mandibular aplasia, Retrognathia, Delayed cranial suture closure	ORPHA:1832
Microphthalmia, Syndromic 9	Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobu...	OMIM:601186
Diethylstilbestrol Syndrome	Central apnea, Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchi...	ORPHA:1916
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit...	ORPHA:91350
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Splenomegaly, EEG abnormality, Reduced haptoglobin level	OMIM:612126
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormali...	ORPHA:970
Pseudo-Torch Syndrome 3	Apnea, Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lym...	OMIM:618886
Pseudohypoaldosteronism, Type Iia	Pseudohypoaldosteronism	OMIM:145260
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ...	ORPHA:67045
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali...	ORPHA:3352
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia	OMIM:602079
Pycnodysostosis	Joint laxity, Obtuse angle of mandible, Increased bone mineral density, Persistent open anterior ...	ORPHA:763
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Immunodeficiency 60 And Autoimmunity	Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease	OMIM:618394
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Ectopic kidney, Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Hearing impairment	ORPHA:2578
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Sensorin...	ORPHA:93476
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic co...	OMIM:301074
Chondrodysplasia, Blomstrand Type	Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification, ...	OMIM:215045
Chronic Hiccup	Malnutrition, Weight loss	ORPHA:396
Hao-Fountain Syndrome	Large fontanelles, Delayed cranial suture closure	OMIM:616863
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Septooptic Dysplasia	Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterior pituitary hyp...	OMIM:182230
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Wormian bones, Pathologic fracture, Abnormal cortical bone morpholo...	ORPHA:166277
Developmental And Epileptic Encephalopathy 108	Small pituitary gland	OMIM:620115
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
8P23.1 Duplication Syndrome	Adrenal insufficiency	ORPHA:251076
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Congenital Disorder Of Glycosylation, Type Iiq	Small pituitary gland	OMIM:617395
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent...	OMIM:616860
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a...	OMIM:243150
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Malabsorption, Abdomi...	ORPHA:131
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelp...	ORPHA:2237
Retinitis Pigmentosa	Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Atypical scarring of skin	ORPHA:791
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Mandibul...	OMIM:259710
Albers-Schönberg Osteopetrosis	Joint dislocation, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized oste...	ORPHA:53
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Red...	OMIM:614856
Cog2-Cdg	Small pituitary gland	ORPHA:435934
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen...	ORPHA:90791
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia, Hearing...	ORPHA:858
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres...	ORPHA:251274
Mogs-Cdg	Respiratory distress, Hepatomegaly, Hypoventilation, Atrial septal defect, Apnea, External genita...	ORPHA:79330
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s...	OMIM:616648
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Immunodeficiency 27A	Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplen...	OMIM:209950
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia	ORPHA:172
Multicentric Reticulohistiocytosis	Arthritis, Cachexia	ORPHA:139436
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen...	OMIM:619326
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidis...	ORPHA:1655
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Glucose intolerance, Increased circulating IgG level, F...	ORPHA:2298
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia	ORPHA:329249
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Optic at...	ORPHA:79312
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Micrognathia, Large fontanelles, Osteo...	ORPHA:2780
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Atopic dermatitis, Membranous nephropathy, Colonic eosinophilia,...	OMIM:618999
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Craniosynostosis, Carious teeth, Osteopetrosis, Pa...	OMIM:259700
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic...	OMIM:262190
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri...	OMIM:603358
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive	OMIM:612075
Osteogenesis Imperfecta, Type Xxii	Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral density, Wormian bones, De...	OMIM:619795
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Septate vagina,...	OMIM:608978
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Keloids, Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus	ORPHA:3085
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Acne, Hyperinsulinemia, Incr...	OMIM:615363
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Ab...	OMIM:620282
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Diastrophic Dysplasia	Joint dislocation, Increased bone mineral density, Camptodactyly of finger, Micrognathia, Joint s...	ORPHA:628
Gaucher Disease Type 2	Respiratory distress, Hepatomegaly, Splenomegaly, Cough, Abnormal pattern of respiration	ORPHA:77260
Mitochondrial Complex I Deficiency, Nuclear Type 16	Adrenal insufficiency	OMIM:618238
Galactose Epimerase Deficiency	Nausea and vomiting, Feeding difficulties, Weight loss	ORPHA:79238
Ovarian Fibrothecoma	Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Pleural eff...	ORPHA:314478
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease...	ORPHA:453533
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis...	OMIM:608612
Hypoadrenocorticism, Familial	Adrenal insufficiency, Adrenal hypoplasia	OMIM:240200
Gracile Bone Dysplasia	Asplenia, Micropenis, Hypocalcemia, Hypoplastic spleen, Ascites	OMIM:602361
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Low-set ears, Atrial septal defect, Hypoplastic spleen, Patent foramen ovale	ORPHA:89844
Dysostosis, Stanescu Type	Increased bone mineral density, Persistent open anterior fontanelle, Wormian bones, Abnormal dent...	ORPHA:1798
Combined Oxidative Phosphorylation Deficiency 34	Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone concentration, Hy...	OMIM:617872
Glycogen Storage Disease Ii	Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase...	OMIM:232300
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Grant Syndrome	Joint dislocation, Micrognathia, Large fontanelles, Decreased skull ossification, Joint hyperflex...	ORPHA:2097
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase c...	OMIM:212140
Cronkhite-Canada Syndrome	Intestinal polyposis, Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Furrowed tongu...	ORPHA:2930
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Weight loss, Arthritis, I...	ORPHA:324964
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity...	OMIM:619151
Grant Syndrome	Wormian bones, Micrognathia	OMIM:138930
Giant Axonal Neuropathy	Abnormal pituitary gland morphology	ORPHA:643
Osteopetrosis, Autosomal Recessive 9	Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis	OMIM:620366
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Colitis	OMIM:615190
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Benign Recurrent Intrahepatic Cholestasis	Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep...	ORPHA:65682
Mirage Syndrome	Hyponatremia, Hypospadias, Hypergonadotropic hypogonadism, Thrombocytopenia, Cryptorchidism, Hype...	OMIM:617053
Perlman Syndrome	Femoral hernia, Hyperinsulinemia, Inguinal hernia	ORPHA:2849
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of lim...	OMIM:259440
Immunodeficiency 40	Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can...	OMIM:616433
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation...	OMIM:243180
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Elevated circulating alpha-fetoprotein conc...	ORPHA:457083
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Interstitial pneumonitis, Enterocolitis, Ulcerative colitis	OMIM:614878
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen...	ORPHA:300298
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Pneumonia, Splenomegaly	OMIM:269840
Ravine Syndrome	Apnea, Abnormal auditory evoked potentials	ORPHA:99852
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Increase...	OMIM:618892
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism	OMIM:264350
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Sensorineural ...	OMIM:611762
Obesity And Hypopigmentation	Hyperinsulinemia	OMIM:620195
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus	OMIM:258320
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal...	ORPHA:465508
Combined Oxidative Phosphorylation Deficiency 41	Hearing impairment, Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly	OMIM:618838
Immunodeficiency 58	Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ...	OMIM:618131
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna...	OMIM:613849
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ...	ORPHA:67
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland...	ORPHA:64744
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Chronic diarrhea, Recurrent pne...	OMIM:614700
Mccune-Albright Syndrome	Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio...	OMIM:174800
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes...	OMIM:603041
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma...	ORPHA:37042
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Poor appetite,...	ORPHA:298
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de...	ORPHA:1782
Meconium Ileus	Chronic diarrhea, Microcolon, Meconium ileus	OMIM:614665
Donnai-Barrow Syndrome	Posteriorly rotated ears, Ventricular septal defect, Proteinuria, Sensorineural hearing impairmen...	ORPHA:2143
Chronic Bilirubin Encephalopathy	Central apnea, Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impai...	ORPHA:529808
Acute Bilirubin Encephalopathy	Central apnea, Hemolytic anemia, Abnormal auditory evoked potentials, Sensorineural hearing impai...	ORPHA:529799
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Macrotia, Cardiomegaly	OMIM:300886
Wolman Disease	Nausea and vomiting, Cachexia, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea,...	ORPHA:75233
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:201475
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant...	ORPHA:91351
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circ...	OMIM:177735
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Chylopericardium...	ORPHA:2414
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Laryngotracheoesophageal Cleft Type 4	Tracheoesophageal fistula, Cachexia, Intestinal atresia	ORPHA:93941
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Weight loss	ORPHA:30925
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	ORPHA:231580
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Respiratory paralysis, E...	OMIM:121300
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Neonatal respiratory distress, True hermaphroditism, Septate vagina,...	OMIM:194080
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Chroni...	ORPHA:47
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting	OMIM:616809
Hyperinsulinism Due To Ucp2 Deficiency	Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem...	ORPHA:276556
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Premature Ovarian Failure 7	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele...	OMIM:612964
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma	ORPHA:882
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron...	ORPHA:911
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia, Bicornuate uter...	OMIM:601076
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Crackles, Cardiomegaly, Dyspnea, Hepatosplenomegaly, Iron defic...	ORPHA:99931
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Micrognathia, Reduced bone mineral density, Wormian bones, Coron...	OMIM:112240
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis,...	OMIM:175500
Hirschsprung Disease, Susceptibility To, 2	Aganglionic megacolon	OMIM:600155
Hirschsprung Disease, Susceptibility To, 5	Aganglionic megacolon	OMIM:600156
Hirschsprung Disease, Susceptibility To, 4	Aganglionic megacolon	OMIM:613712
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Recurrent fractures, Reduced bone mineral density, Increased susceptibility to frac...	OMIM:166220
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio...	ORPHA:436159
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N...	OMIM:214900
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Congenital Generalized Lipodystrophy	Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose tissue loss, Insulin res...	ORPHA:528
Prolactinoma	Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra...	ORPHA:2965
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Sen...	OMIM:614129
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Abnormal vertebr...	ORPHA:90650
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Epistaxis, Asplenia, Thr...	OMIM:185070
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea...	ORPHA:263665
Craniometadiaphyseal Dysplasia	Osteopenia, Natal tooth, Mandibular prognathia, Carious teeth, Wide anterior fontanel, Genu valgu...	OMIM:269300
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea	ORPHA:3217
Gillessen-Kaesbach-Nishimura Syndrome	Posteriorly rotated ears, Abnormal heart morphology, Large fleshy ears, Periportal fibrosis, Bico...	OMIM:263210
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Horseshoe kidney, Abnormality of the uterus, Vesicoureteral reflux,...	OMIM:617805
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Ago...	ORPHA:983
Attrv122I Amyloidosis	Increased circulating NT-proBNP concentration, Abnormal enteric nervous system morphology, Cardio...	ORPHA:85451
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Sensorineural hearing impairment, Elevated circulating creatinine...	OMIM:154230
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent...	OMIM:201810
Cardiac-Urogenital Syndrome	Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe...	OMIM:618280
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fas...	OMIM:246200
Obesity Due To Sim1 Deficiency	Glucose intolerance, Hyperinsulinemia	ORPHA:369873
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Card...	OMIM:606069
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia	OMIM:240900
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse, Bowel incontinence	OMIM:176780
Renal Cysts And Diabetes Syndrome	Hypospadias, Proteinuria, Unilateral renal agenesis, Biliary tract abnormality, Elevated circulat...	OMIM:137920
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypertension, Hyperalaninemia	OMIM:619064
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:91355
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th...	OMIM:616113
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El...	OMIM:273250
Shigellosis	Failure to thrive in infancy, Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocar...	ORPHA:810
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis...	OMIM:155310
Peritoneal Cystic Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation	ORPHA:168816
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa...	OMIM:615513
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Matthew-Wood Syndrome	Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal ...	ORPHA:2470
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level	ORPHA:96181
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo...	OMIM:231100
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper...	OMIM:619170
Congenital Myopathy 8	Reduced vital capacity, Respiratory insufficiency, Cardiomegaly	OMIM:618654
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Schnitzler Syndrome	Arthritis, Increased bone mineral density	ORPHA:37748
Combined Oxidative Phosphorylation Deficiency 52	Adrenal insufficiency, Pancreatitis	OMIM:619386
Immunodeficiency, Common Variable, 10	Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Decreased response to ...	OMIM:615577
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, B...	OMIM:226990
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality	OMIM:617519
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Posteriorly rotated ears, Elevated circulating creatine kinase concentra...	OMIM:300280
Isaacs Syndrome	Weight loss	ORPHA:84142
X-Linked Adrenoleukodystrophy	Abnormality of adrenal physiology, Adrenal insufficiency, Increased circulating ACTH level	ORPHA:43
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating...	ORPHA:42
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficiency, Hepatosplenomegaly, Low-set ...	OMIM:610333
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:369929
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Estrogen Resistance Syndrome	Acne, Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperin...	ORPHA:785
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Delayed eruption of teeth, Natal tooth, Sclerotic scapulae, M...	OMIM:224300
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:85414
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Hypertrophic cardiomyopathy, H...	OMIM:614702
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O...	ORPHA:289176
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno...	OMIM:300853
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom...	OMIM:617321
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia	ORPHA:75234
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Brachydactyly, Type B1	Vertebral fusion, Wide anterior fontanel, Delayed eruption of permanent teeth, Camptodactyly, Joi...	OMIM:113000
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Female hypogonadism, Cholelithiasis, Decreased circulating parathyroid hormon...	OMIM:240300
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt...	ORPHA:231401
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Thrombocytopenia, Mi...	OMIM:606003
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia	OMIM:261750
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Micrognathia	ORPHA:1237
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ...	ORPHA:98897
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Cachexia, Abdominal pain, Abdominal distention, Ileus, Weight loss	ORPHA:83469
Pseudohypoaldosteronism, Type Iib	Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Pseudohypoaldosteronism	OMIM:614495
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Sensorineural hearing impairme...	OMIM:618652
Central Diabetes Insipidus	Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive	ORPHA:178029
Majeed Syndrome	Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption, Pustule, Syno...	ORPHA:77297
Caudal Duplication Anomaly	Ureteral duplication, Uterus didelphys	OMIM:607864
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Feeding difficulties in infancy, Chronic diarrhea, Chronic mucocutaneous candidiasis, Inf...	ORPHA:98813
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Colitis	OMIM:301220
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu...	ORPHA:54595
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficiency, Jaundice, Ap...	ORPHA:93111
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:618117
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema...	OMIM:174900
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-rea...	ORPHA:829
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:255120
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal...	ORPHA:1414
Gray Platelet Syndrome	Splenomegaly, Epistaxis, Thrombocytopenia	ORPHA:721
Alexander Disease Type I	Failure to thrive, Vomiting, Cachexia, Dysphagia	ORPHA:363717
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Refractory Celiac Disease	Villous atrophy, Inflammatory abnormality of the skin, Malabsorption, Abdominal pain, Chronic dia...	ORPHA:398063
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Sensorineural hearing impairment, Hype...	OMIM:619046
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote...	ORPHA:320401
Culler-Jones Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Hypogonadism, Hypopit...	OMIM:615849
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Apnea, Elevated circulating creatine kinase concentration, Cardiomegaly, Ma...	OMIM:608836
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hypoplasia of the ear c...	ORPHA:66661
Acquired Generalized Lipodystrophy	Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Ge...	ORPHA:79086
Corticosterone Methyloxidase Type Ii Deficiency	Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas...	OMIM:610600
Caudal Duplication	Abnormal penis morphology, Cryptorchidism, Ureteral duplication, Uterus didelphys	ORPHA:1756
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis, Micrognathia	OMIM:617306
Osteopetrosis, Autosomal Recessive 4	Osteopetrosis, Increased bone mineral density, Recurrent fractures	OMIM:611490
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Septate vagina, Sensorineural hearing impairment, Chronic kidney...	OMIM:146255
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph...	ORPHA:507
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Elevated ...	ORPHA:308552
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleur...	ORPHA:545
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi...	ORPHA:615
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Lynch Syndrome 8	Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer	OMIM:613244
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Perrault Syndrome 6	Hypoplasia of the uterus, Sensorineural hearing impairment, Streak ovary	OMIM:617565
Meacham Syndrome	Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Crossed fused renal ectopia,...	ORPHA:3097
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Facial palsy, Splenomegaly, Mediastinal lymphadenopathy, Dyspnea, Pneumothorax, Bro...	OMIM:612387
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H...	OMIM:602782
Mulibrey Nanism	Cachexia	ORPHA:2576
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Impaired gluco...	OMIM:248370
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Combined Oxidative Phosphorylation Deficiency 8	EEG abnormality, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Pleural Mesothelioma	Weight loss, Dysphagia	ORPHA:50251
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Weight loss	ORPHA:86893
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Multiple prenatal fractures, Decreased calvarial ossification, Wormian bones, Bowing of limbs due...	OMIM:259410
Dyskeratosis Congenita, Autosomal Recessive 8	Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture	OMIM:620133
Craniosynostosis 2	Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Metopic synostosis, Wormian bones, ...	OMIM:604757
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, Colitis,...	ORPHA:309031
Lipodystrophy, Congenital Generalized, Type 4	Lipodystrophy, Insulin resistance, Flexion contracture, Recurrent pneumonia, Hyperinsulinemia, De...	OMIM:613327
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno...	ORPHA:90790
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s...	OMIM:609220
Camurati-Engelmann Disease	Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ...	OMIM:131300
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Finger join...	OMIM:166200
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:617690
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hyperammonemia	ORPHA:664
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology	ORPHA:3411
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet...	ORPHA:79644
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, B ...	ORPHA:397596
Babesiosis	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Respiratory insuffic...	ORPHA:108
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Mody	Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i...	ORPHA:552
Prune Belly Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hydroureter, Crypto...	ORPHA:2970
Joubert Syndrome 38	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Small pituitary gland,...	OMIM:619476
Ehlers-Danlos Syndrome, Classic-Like	Quadricuspid aortic valve, Unilateral renal agenesis, Ambiguous genitalia, female, Mitral valve p...	OMIM:606408
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat...	ORPHA:2137
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Genita...	OMIM:602450
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,...	OMIM:614837
Satoyoshi Syndrome	Hypoplasia of the uterus, Mildly elevated creatine kinase	OMIM:600705
Cirrhotic Cardiomyopathy	Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Left a...	ORPHA:57777
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Legionnaires Disease	Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis...	ORPHA:549
Attrv30M Amyloidosis	Diarrhea, Constipation, Weight loss	ORPHA:85447
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Bipartite patel...	ORPHA:85188
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Hyperlipoproteinemia, Type Id	Failure to thrive, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Pyoderma Gangrenosum	Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Myositis	ORPHA:48104
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin, Exe...	ORPHA:90037
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Pseudohypoaldosteronism, Type Iie	Pseudohypoaldosteronism	OMIM:614496
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Glycosuria, Hyperinsul...	ORPHA:263455
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Recurrent fractures, Micrognathia, Wormian bones, Generalized ost...	OMIM:617952
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia	OMIM:619489
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple...	ORPHA:64743
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna	OMIM:231095
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ...	ORPHA:793
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are...	ORPHA:3240
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
Achalasia-Addisonianism-Alacrima Syndrome	Adrenocorticotropin receptor defect, Decreased circulating cortisol level, Decreased circulating ...	OMIM:231550
Spondyloepiphyseal Dysplasia Tarda	Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os...	ORPHA:93284
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub...	OMIM:211600
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Sex reversal, Increased circulating renin level, Ambiguous genitalia, male, H...	ORPHA:168558
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Wide cranial sutures, Recurrent fractures, Lambdoidal craniosynost...	OMIM:616294
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, Pericardial effu...	ORPHA:36412
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, EEG with burst su...	OMIM:617713
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Red-brown urine, Tubulointersti...	ORPHA:228308
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Pulmonary arterial hypertension, Hyperalan...	OMIM:619051
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado...	OMIM:194072
Vaginal Atresia	Cervicitis, Vaginal hematocele, Abdominal mass, Pelvic mass, Transverse vaginal septum, Uterus di...	ORPHA:65681
Iron Overload, Susceptibility To	Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat...	OMIM:620121
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Cardiomegaly, Pneumothorax, Abnormal circulating ceruloplasmin concentratio...	OMIM:620306
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Hypoplasia of penis, Uterus didelphys	ORPHA:2491
Bruck Syndrome	Recurrent fractures, Joint stiffness, Osteoporosis, Wormian bones, Arthrogryposis multiplex conge...	ORPHA:2771
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Sex reversal, Increased circulating renin level, Ambiguous genitalia, male, H...	ORPHA:289548
Perrault Syndrome 4	Increased circulating gonadotropin level, Hypoplasia of the uterus, Hypoplasia of the ovary, Bico...	OMIM:615300
Acquired Hypertrichosis Lanuginosa	Poor appetite, Chronic diarrhea, Weight loss, Macroglossia, Glossitis	ORPHA:2221
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Posterior pituitary hypoplasia, Abnormality of the anterior pituitary	ORPHA:75389
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade...	OMIM:240500
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti...	ORPHA:2686
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Adrenocorticotropin deficient adrenal insufficiency, Adrena...	ORPHA:199296
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Acute pancreatitis, Diabetes mellitus, Lipodystrophy, Reduce...	OMIM:608594
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ...	ORPHA:70475
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619665
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph...	OMIM:235255
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Respiratory insufficiency	OMIM:618042
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U...	OMIM:618935
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr...	OMIM:607594
Familial Pancreatic Carcinoma	Nausea and vomiting, Intestinal pseudo-obstruction, Functional intestinal obstruction, Anorexia, ...	ORPHA:1333
Caspase 8 Deficiency	Pneumonia, Splenomegaly, Asthma, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:607271
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa...	OMIM:267700
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade...	ORPHA:231214
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ...	OMIM:612310
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Rhabdoid Tumor	Nausea and vomiting, Poor appetite, Abdominal pain, Weight loss, Neoplasm of the liver	ORPHA:69077
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Autosomal Recessive Kenny-Caffey Syndrome	Carious teeth, Cortical thickening of long bone diaphyses, Decreased skull ossification, Calvaria...	ORPHA:93324
Pseudohypoaldosteronism, Type Iic	Pseudohypoaldosteronism, Decreased circulating renin level	OMIM:614492
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Wormian bones, Camptodactyly of finger, Micrognathia	ORPHA:2863
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,...	ORPHA:91347
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Alstrom Syndrome	Chronic active hepatitis, Hypergonadotropic hypogonadism, Decreased response to growth hormone st...	OMIM:203800
Acrodermatitis Enteropathica	Anorexia, Malabsorption, Poor appetite, Pustule, Chronic diarrhea, Cheilitis, Weight loss, Furrow...	ORPHA:37
Hand-Foot-Genital Syndrome	Ventricular septal defect, Hypospadias, Abnormality of the urethra, Microtia, Bicornuate uterus, ...	ORPHA:2438
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe...	ORPHA:254704
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Keratitis, Weight loss, Abn...	ORPHA:1018
Joubert Syndrome 33	Splenomegaly, Apnea	OMIM:617767
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Nephroblastoma	Neoplasm of the liver, Abdominal pain, Weight loss	ORPHA:654
Partial Androgen Insensitivity Syndrome	Fused labia majora, Bifid scrotum, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein...	ORPHA:90797
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas...	OMIM:266810
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Posteriorly rotated ears, Cryptorchidism, Complete atrio...	OMIM:264480
X-Linked Hypophosphatemia	Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita...	ORPHA:89936
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Dyspnea, Tach...	OMIM:239200
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone...	ORPHA:99429
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Respiratory insufficiency, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:391
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metatarsal osteolysis, Camptodactyly of toe,...	OMIM:259600
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland	ORPHA:2969
Omodysplasia 2	Hypospadias, Posteriorly rotated ears, Cryptorchidism, Uterus didelphys, Overfolded helix, Clitor...	OMIM:164745
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619203
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex...	OMIM:400045
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic stenosis...	ORPHA:90038
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Hypospadias, Increased mean platelet volume, Abn...	OMIM:222470
Immunodeficiency 97 With Autoinflammation	Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, Enterocolitis, Colitis, Recurrent ot...	OMIM:619802
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Fish-Eye Disease	Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele...	ORPHA:53693
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain...	OMIM:619381
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Poor appetite, Weight loss	ORPHA:312
Microsporidiosis	Sinusitis, Cholangitis, Pneumonia, Abnormality of the spleen, Lymphadenitis, Peritonitis, Biliary...	ORPHA:2552
Late-Onset Familial Hypoaldosteronism	Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r...	ORPHA:556037
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Increased susceptibility to f...	OMIM:610968
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Sensorineural hearing impair...	ORPHA:3226
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,...	OMIM:616589
Mosaic Trisomy 9	Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Ab...	ORPHA:99776
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Weight loss	ORPHA:703
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc...	OMIM:600501
Timothy Syndrome	Ventricular septal defect, Pneumonia, Cardiomegaly, Hypocalcemia, Pulmonary arterial hypertension...	OMIM:601005
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa...	ORPHA:158061
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne...	OMIM:300908
Pagod Syndrome	Multicystic kidney dysplasia, Situs inversus totalis, Abnormality of the spleen, Optic atrophy, A...	ORPHA:991
Fixed Subaortic Stenosis	Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Abnormal hear...	ORPHA:3092
Reactive Arthritis	Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Weight loss, Arthriti...	ORPHA:29207
Inflammatory Pseudotumor Of The Liver	Abdominal pain, Abdominal distention, Weight loss, Neoplasm of the liver, Vomiting, Nausea	ORPHA:90003
Chromosome 16Q22 Deletion Syndrome	Wormian bones, Wide anterior fontanel, Prominent metopic ridge, Micrognathia	OMIM:614541
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Wide anterior fontanel	OMIM:601356
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Abdominal pain, Pericarditis, Weight loss	ORPHA:767
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Microcolon, Intestinal malrotation, Hepatic failure	OMIM:619431
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Restrictive ventilatory defect, Respiratory failure, Interstitial pne...	OMIM:620296
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Wormian bones, Congenital hip dislocation	OMIM:614450
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia	OMIM:615085
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ...	ORPHA:264580
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Jaundi...	OMIM:194380
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Acute pancreatitis, Lipodystrophy, Reduced intraabdominal ad...	OMIM:269700
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Craniosynostosis 4	Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Metopic synostosis, Corona...	OMIM:600775
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Abdominal pain, Intestinal ...	ORPHA:679
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, Lymphaden...	OMIM:150550
Liposarcoma	Nausea and vomiting, Abdominal pain, Weight loss	ORPHA:69078
Mcleod Syndrome	Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, D...	OMIM:300842
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin...	OMIM:617718
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyopathy...	ORPHA:2348
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Posteriorly rotated ears, Cardiomegaly, Micropenis, Large...	OMIM:616897
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomegaly, Pericardial effus...	ORPHA:555874
Cockayne Syndrome Type 1	Hepatomegaly, Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Cryptorchidi...	ORPHA:90321
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi...	ORPHA:83628
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome...	OMIM:612840
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalcemia, Splenomegaly, Cryptorchidism, Hypercalciuria, Mucopolysacchariduria,...	OMIM:618440
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ...	ORPHA:432
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:278000
Optic Atrophy 11	Decreased sensory nerve conduction velocity, Optic nerve hypoplasia, Splenomegaly, EEG with focal...	OMIM:617302
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Liddle Syndrome 2	Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618126
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent...	OMIM:601847
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hyperuricemia, Cirrhosis, H...	ORPHA:79083
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Moynahan Syndrome	Cachexia	ORPHA:2574
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Sensorineural hearing impairment, Papillary cystadeno...	OMIM:193300
Hypercalcemia, Infantile, 1	Failure to thrive, Vomiting, Weight loss	OMIM:143880
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Posteriorly rotated ears, Elevated circulating creatine kinase concentratio...	OMIM:618733
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Flynn-Aird Syndrome	Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus	ORPHA:2047
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Splenomegaly, Lymp...	OMIM:618495
Neuroendocrine Tumor Of The Rectum	Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Weight loss, Hematochezia, Melena,...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Weight loss, Hematochezia, Melena,...	ORPHA:100082
Satoyoshi Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Hypoplasia of the ovary, Abnormality of the ...	ORPHA:3130
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Wormian bones, Recurrent fractures, Multiple prenatal fractures, Wide a...	OMIM:610915
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Dyspnea, Myocarditis, Lymphadenopathy, Cardiom...	ORPHA:3386
Peroxisome Biogenesis Disorder 2B	Adrenal insufficiency	OMIM:202370
Aa Amyloidosis	Hypothyroidism, Adrenal insufficiency	ORPHA:85445
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, ...	OMIM:615122
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great a...	OMIM:306955
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Increased bone mineral density, Abnormal dental enamel morphology, Cranial...	ORPHA:2658
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Diarrhea, Skin rash, Weight loss	ORPHA:33276
Early-Onset Familial Hypoaldosteronism	Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r...	ORPHA:556030
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Vaginal at...	OMIM:617914
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:98754
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Posteriorly rotated ears, Elevated circulating luteinizing hormone level, Unila...	OMIM:618419
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hydroureter, Bicuspid aortic valve, Septate vagina, Valvular pulmonary stenosis, Vesicoureteral r...	OMIM:300707
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Cardiomyopa...	ORPHA:1215
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated circulating creatine kinase conce...	OMIM:614576
Thymoma	Myositis, Glomerulonephritis, Ulcerative colitis, Weight loss, Rheumatoid arthritis, Neoplasm of ...	ORPHA:99867
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Weight loss	ORPHA:1164
Duplication Of Urethra	Bifid scrotum, Urethral stricture, Anuria, Hypospadias, Urinary incontinence, Septate vagina, Dis...	ORPHA:237
Takayasu Arteritis	Increased inflammatory response, Anorexia, Weight loss, Arthritis, Gastrointestinal infarctions, ...	ORPHA:3287
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Protruding ear	ORPHA:247768
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ...	OMIM:314050
Hermansky-Pudlak Syndrome 1	Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain	OMIM:203300
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card...	OMIM:614921
Ectodermal Dysplasia-Syndactyly Syndrome 2	Macrotia, Cardiomegaly	OMIM:613576
Cleidocranial Dysplasia 1	Increased bone mineral density, Persistent open anterior fontanelle, Delayed eruption of primary ...	OMIM:119600
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c...	OMIM:265380
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Osteoporosis, Increased susceptibility to fractures, Wormian bones	ORPHA:2788
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Maculopapular exanthema, Anorexia, Malabsorption, Abdominal pain, Di...	ORPHA:98850
Teebi Hypertelorism Syndrome 1	Ventricular septal defect, Hydrocele testis, Bicornuate uterus, Shawl scrotum, Atrial septal defect	OMIM:145420
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Weight loss, Vomiting, Fa...	ORPHA:35710
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se...	OMIM:619377
Neonatal Adrenoleukodystrophy	Primary adrenal insufficiency	ORPHA:44
Anaplastic Thyroid Carcinoma	Weight loss, Tracheoesophageal fistula, Dysphagia	ORPHA:142
Huntington Disease-Like 2	Weight loss	OMIM:606438
X-Linked Creatine Transporter Deficiency	Constipation, Ileus, Aganglionic megacolon, Cachexia	ORPHA:52503
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Recurrent pneumo...	OMIM:617303
Opitz Gbbb Syndrome	Bifid scrotum, Atrial septal defect, Enlarged ovaries, Ventricular septal defect, Hypospadias, Po...	ORPHA:2745
Meckel Syndrome 12	Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Low-set ears, Vaginal atresia	OMIM:616258
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Erythrokeratodermia Variabilis	Skin rash, Weight loss	ORPHA:317
Eosinophilic Granulomatosis With Polyangiitis	Nausea and vomiting, Increased inflammatory response, Intestinal obstruction, Myositis, Sinusitis...	ORPHA:183
Lynch Syndrome	Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Abdominal ...	ORPHA:144
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:98793
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Cachexia	ORPHA:1438
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, ...	OMIM:115197
Syndromic Diarrhea	Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m...	ORPHA:84064
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co...	OMIM:603553
Thrombocytopenia-Absent Radius Syndrome	Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Horseshoe kidney, Abnormal c...	ORPHA:3320
Townes-Brocks Syndrome 2	Crossed fused renal ectopia, Hypospadias, Bifid uterus, Cupped ear, Microtia, Rectovaginal fistul...	OMIM:617466
Reni Syndrome	Hypogonadism, Cryptorchidism, Hypothyroidism, Adrenal insufficiency	OMIM:617575
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundice, Asthma,...	OMIM:612714
Christianson Syndrome	Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia	ORPHA:85278
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome...	OMIM:619463
Alpha-N-Acetylgalactosaminidase Deficiency	Recurrent pneumonia, Oligosacchariduria, Hearing impairment, Cardiomegaly	ORPHA:3137
Scrub Typhus	Renal insufficiency, Splenomegaly, Dyspnea, Myocarditis, Lymphadenopathy, Restrictive ventilatory...	ORPHA:83317
Liddle Syndrome 1	Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:177200
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:177904
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Abnormality of the wrist, Large fontanelles, Delayed cranial suture closure	ORPHA:2511
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Overfolded helix, Mitral valve prolapse...	ORPHA:324410
Igg4-Related Aortitis	Abdominal pain, Intestinal obstruction, Increased inflammatory response, Weight loss	ORPHA:449400
Eosinophilic Fasciitis	Myositis, Fasciitis, Arthritis, Weight loss	ORPHA:3165
Neuroendocrine Tumor Of The Colon	Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Melena, Weight lo...	ORPHA:100080
Lowry-Maclean Syndrome	Osteopenia, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Delayed eruption of primar...	ORPHA:2409
Congenital Tracheomalacia	Apnea, Cardiomegaly, Decreased peak expiratory flow, Cough, Atrial septal defect, Emphysema, Sing...	ORPHA:95430
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:177901
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Neonatal respiratory distress, Thymus hyperplasia, EEG with burst suppression, Hypsarrhythmia, Ch...	OMIM:619036
Renal Hypodysplasia/Aplasia 1	Bicornuate uterus, Proteinuria, Vaginal atresia, Low-set ears	OMIM:191830
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg...	ORPHA:79240
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Ascites	OMIM:253250
Refsum Disease, Classic	Cardiomegaly, Sensorineural hearing impairment, Elevated circulating phytanic acid concentration,...	OMIM:266500
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, C...	OMIM:612541
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Atrial septal def...	OMIM:270400
Kaposiform Lymphangiomatosis	Epistaxis, Pancreatic cysts, Splenomegaly, Dyspnea, Abnormality of the lymphatic system, Pericard...	ORPHA:464329
Pemphigus Vulgaris	Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V...	ORPHA:565612
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevat...	OMIM:619991
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Delayed...	ORPHA:289157
Adrenomyodystrophy	Primary adrenal insufficiency	ORPHA:977
Trisomy 10P	Absent gallbladder, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst...	ORPHA:171929
Hereditary Amyloidosis With Primary Renal Involvement	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D...	ORPHA:85450
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis...	ORPHA:2241
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Decreased serum zinc, Hypogonadism, Decreased testicular size	OMIM:201100
Autoimmune Polyendocrinopathy Type 3	Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insufficiency, Xer...	ORPHA:227982
Sepsis In Premature Infants	Small for gestational age, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enteroco...	ORPHA:90051
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Anemia, Pulmonary ar...	OMIM:230800
Raine Syndrome	Mandibular prognathia, Natal tooth, Increased bone mineral density, Micrognathia, Large fontanell...	OMIM:259775
Erythrocytosis, Familial, 1	Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion...	OMIM:133100
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia	OMIM:235555
Craniosynostosis 6	Bicoronal synostosis, Craniosynostosis, Delayed cranial suture closure, Right unilambdoid synostosis	OMIM:616602
Schinzel-Giedion Midface Retraction Syndrome	Atrial septal defect, Small scrotum, Hypospadias, Ureteral stenosis, Hydroureter, Hypoplastic lab...	OMIM:269150
Adrenomyeloneuropathy	Primary adrenal insufficiency, Adrenocortical abnormality, Adrenal insufficiency, Adrenocorticotr...	ORPHA:139399
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Okamoto Syndrome	Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Bifid uterus...	ORPHA:2729
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Decreased circulating cortisol level, Decreased circulating ACTH concentratio...	ORPHA:199299
Familial Hemophagocytic Lymphohistiocytosis	Maculopapular exanthema, Skin rash, Colitis, Decreased liver function, Erythroderma, Infectious e...	ORPHA:540
46,Xy Partial Gonadal Dysgenesis	Decreased serum testosterone concentration, Streak ovary, Hypergonadotropic hypogonadism, Elevate...	ORPHA:251510
Rabson-Mendenhall Syndrome	Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci...	ORPHA:769
Galactokinase Deficiency	Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypoglycemia	ORPHA:79237
Iga Pemphigus	Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess	ORPHA:555905
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis	OMIM:611812
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Increased bone mineral density, Diaphyseal sclerosis, Increased bone d...	ORPHA:94089
Celiac Disease, Susceptibility To, 1	Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroiditis, Weight loss,...	OMIM:212750
Hsd10 Disease, Infantile Type	Cardiomegaly, Optic atrophy, Hyperammonemia, Hypertrophic cardiomyopathy, Abnormal concentration ...	ORPHA:391428
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaun...	OMIM:607765
Donnai-Barrow Syndrome	Posteriorly rotated ears, Ventricular septal defect, Proteinuria, Non-acidotic proximal tubulopat...	OMIM:222448
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h...	ORPHA:52368
Schwartz-Jampel Syndrome	Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ...	ORPHA:800
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal lymphad...	ORPHA:91359
Immunodeficiency 31C	Villous atrophy, Osteomyelitis, Eczema, Diarrhea, Bronchiectasis, Chronic mucocutaneous candidias...	OMIM:614162
Coronary Arterial Fistula	Orthopnea, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal heart morphology, Right ventr...	ORPHA:2041
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Hepatocellular carcinoma, Abdomi...	ORPHA:440437
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Medullary Thyroid Carcinoma	Diarrhea, Weight loss, Dysphagia	ORPHA:1332
Autoimmune Polyendocrinopathy Type 4	Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Xerostomia, Anterior pituitary dys...	ORPHA:227990
Klatskin Tumor	Cholangiocarcinoma, Abdominal pain, Weight loss	ORPHA:99978
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Sp...	OMIM:615895
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res...	ORPHA:293978
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Small pituitary gland	OMIM:614195
Alg9-Cdg	Low-set, posteriorly rotated ears, Hepatomegaly, Ventricular septal defect, Ureteral hypoplasia, ...	ORPHA:79328
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Feeding difficulties	ORPHA:157973
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h...	OMIM:613027
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Cry...	ORPHA:739
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Hypospadias, Endometriosis, Unilateral renal agenesis, Muscular ventricular septal defect, Horses...	ORPHA:363444
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Portal hypertension, Short-segment ag...	OMIM:609136
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Right atrial enlargement, Pulmonic stenosis,...	OMIM:616028
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Micrognathia, Elbow d...	ORPHA:90652
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Papilledema, Ventricular septal defect, Elevated circulating creatine kinase concentration, Peric...	OMIM:618775
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Malformation of the hepatic ducta...	OMIM:208540
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Micrognathia, Cranial hyperostosis, Decreased osteoclast count, O...	OMIM:259720
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M...	ORPHA:309854
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper...	OMIM:618213
Greig Cephalopolysyndactyly Syndrome	Craniosynostosis, Metopic synostosis, Camptodactyly of toe, Joint contracture of the hand, Delaye...	OMIM:175700
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Isolated Exencephaly	Posterior pituitary agenesis, Anterior pituitary hypoplasia, Maternal diabetes	ORPHA:563612
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Osteoporosis	OMIM:239000
Meckel Syndrome 14	Pneumothorax, Cardiorespiratory arrest, Hepatic fibrosis, Aplasia of the uterus, Low-set ears, Am...	OMIM:619879
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture	ORPHA:77259
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Desmosterolosis	Increased bone mineral density, Retrognathia, Osteopetrosis, Micrognathia	ORPHA:35107
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Ventricular septal defect, Hyposp...	OMIM:229850
Ulna Hypoplasia-Intellectual Disability Syndrome	Elbow dislocation, Large fontanelles, Delayed cranial suture closure, Joint stiffness	ORPHA:2249
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Recurrent fractures, ...	OMIM:231070
Apparent Mineralocorticoid Excess	Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:218030
Trichothiodystrophy	Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Crani...	ORPHA:33364
Amyotrophic Lateral Sclerosis 21	Respiratory insufficiency due to muscle weakness, Aspiration, Decreased nerve conduction velocity...	OMIM:606070
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei...	ORPHA:90796
Corticosterone Methyloxidase Type I Deficiency	Decreased circulating aldosterone level, Increased circulating renin level	OMIM:203400
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias...	OMIM:611881
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph...	ORPHA:2975
Fryns Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacol...	ORPHA:2059
Seckel Syndrome 7	Hypoplasia of the uterus, Microtia	OMIM:614851
Gaucher Disease, Perinatal Lethal	Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosp...	OMIM:608013
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph...	ORPHA:95699
Kearns-Sayre Syndrome	Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency	OMIM:530000
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal insufficiency, Mitral atresia, Ectopic kidney, Horseshoe kidney, Abnormal cardiac septum mo...	ORPHA:140952
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs...	ORPHA:371428
Fatal Familial Insomnia	Weight loss, Constipation, Dysphagia	OMIM:600072
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os...	OMIM:112250
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Microretrognathia, Recurrent fractures, Decreased calvarial ossification, Wormian bon...	OMIM:616229
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Failure to thrive in infancy, Feeding difficulties in infancy, Pustule, Atopic der...	ORPHA:171876
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Holocarboxylase Synthetase Deficiency	Nausea and vomiting, Eczema, Anorexia, Keratoconjunctivitis, Weight loss, Perioral eczema	ORPHA:79242
Complete Atrioventricular Septal Defect	Hepatomegaly, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal de...	ORPHA:1329
Exstrophy-Epispadias Complex	Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Cryptorchidism, Epispadia...	ORPHA:322
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome...	OMIM:251880
Scheie Syndrome	Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Rhinitis, Mucopolysacchariduria, Ab...	ORPHA:93474
Renpenning Syndrome	High, narrow palate, Cachexia, Anal atresia, Cleft palate	ORPHA:3242
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Ventricular septal defect, Abnormal pinna morphology, Bifid uterus...	OMIM:236680
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Rectal prolapse, Aden...	ORPHA:79076
Vocal Cord And Pharyngeal Distal Myopathy	Respiratory insufficiency due to muscle weakness, Aspiration, Decreased nerve conduction velocity...	ORPHA:600
Cold Agglutinin Disease	Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Tetrasomy 12P	Abnormal soft palate morphology, Cachexia, Anal atresia	ORPHA:884
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Weight loss,...	ORPHA:100078
Familial Hypoaldosteronism	Decreased circulating aldosterone level, Adrenal insufficiency, Increased circulating renin level	ORPHA:427
Hand-Foot-Genital Syndrome	Bifid scrotum, Ureteropelvic junction obstruction, Renal insufficiency, Hypospadias, Uterus didel...	OMIM:140000
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Aspiration pneumonia, Dysphagia	ORPHA:216866
Lymphangioleiomyomatosis	Abnormal urinary color, Dyspnea, Renal angiomyolipoma, Abnormality of the lymphatic system, Pneum...	ORPHA:538
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab...	ORPHA:90362
Riboflavin Transporter Deficiency	Cachexia, Dysphagia	ORPHA:97229
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri...	ORPHA:822
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal...	OMIM:158330
Idiopathic Congenital Hypothyroidism	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Delayed cranial sut...	ORPHA:95717
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Wide cranial sutures, Limited elbow movement, Joint stiffness, Micrognathia, D...	OMIM:614008
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Oeis Complex	Hydroureter, Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal...	OMIM:258040
Poems Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Primary adrenal insufficiency, Hypogonadi...	ORPHA:2905
Biotinidase Deficiency	Hepatomegaly, Apnea, Splenomegaly, Sensorineural hearing impairment, Tachypnea, Optic atrophy, Hy...	OMIM:253260
Werner Syndrome	Increased bone mineral density, Osteoporosis, Chondrocalcinosis, Joint stiffness	ORPHA:902
Neonatal Lupus Erythematosus	Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Di...	ORPHA:398124
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, External ear malformation, ...	ORPHA:251066
Chops Syndrome	Ventricular septal defect, Thickened helices, Splenomegaly, Cryptorchidism, Optic atrophy, Vesico...	OMIM:616368
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Limitation of joint mobility, Osteoporosis, Large fontanelles, Osteolyti...	OMIM:259100
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy, He...	OMIM:252900
Coffin-Siris Syndrome 6	Wormian bones, Retrognathia, Micrognathia	OMIM:617808
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Increased circulating guanosine concentrati...	OMIM:613179
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evok...	OMIM:216400
Woodhouse-Sakati Syndrome	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ...	OMIM:241080
Wild Type Attr Amyloidosis	Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, Intermittent dia...	ORPHA:330001
Neuroendocrine Tumor Of Stomach	Nausea and vomiting, Anorexia, Poor appetite, Hematemesis, Bowel urgency, Lack of bowel sounds, W...	ORPHA:100075
Sandifer Syndrome	Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ...	ORPHA:71272
Mednik Syndrome	Volvulus, Jejunal atresia, Microcolon, Diarrhea	OMIM:609313
Gist-Plus Syndrome	Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis	OMIM:175510
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Arthrogryposis, Distal, Type 2A	Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Huntington Disease	Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia	ORPHA:399
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly	OMIM:268800
Gomez-Lopez-Hernandez Syndrome	Wormian bones, Wide anterior fontanel, Craniosynostosis	OMIM:601853
Opitz Gbbb Syndrome	Ventricular septal defect, Hypospadias, Posteriorly rotated ears, Rectourethral fistula, Cryptorc...	OMIM:300000
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d...	OMIM:613812
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Hypospadias, Ovotestis, Hypoplasia of the uterus, Ch...	OMIM:309801
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Elevated circulating creatine kinase concentration, Secundum at...	OMIM:608779
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubu...	ORPHA:139402
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Felty Syndrome	Hepatomegaly, Pericarditis, Sinusitis, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Lymph...	ORPHA:47612
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Hip dislocation, Osteolytic d...	ORPHA:2484
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Recurrent fractures, Abnormal dental enamel mor...	ORPHA:1452
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridging fibrosis, Hep...	OMIM:618641
46,Xx Gonadal Dysgenesis	Streak ovary, Hearing impairment, Increased circulating gonadotropin level, Gonadal dysgenesis, A...	ORPHA:243
Whipple Disease	Gastrointestinal hemorrhage, Myositis, Pericarditis, Anorexia, Cachexia, Malabsorption, Abdominal...	ORPHA:3452
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Papilledema, Abnormal heart valve morphology, Hearing impairment, Heparan sulfate e...	OMIM:309900
Aceruloplasminemia	Anemia, Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron	OMIM:604290
Antley-Bixler Syndrome	Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, Hypoplasia of th...	ORPHA:83
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis	OMIM:259730
Xp21 Deletion Syndrome	Primary adrenal insufficiency, Hypogonadotropic hypogonadism, Adrenal insufficiency	ORPHA:261476
Kindler Epidermolysis Bullosa	Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ...	ORPHA:2908
Autosomal Recessive Cutis Laxa Type 2A	Persistent open anterior fontanelle, Congenital hip dislocation, Delayed cranial suture closure, ...	ORPHA:357058
Bone Dysplasia, Lethal Holmgren Type	Nausea and vomiting, Diarrhea, Failure to thrive, Weight loss	ORPHA:1842
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:619260
Perry Syndrome	Weight loss	ORPHA:178509
Beaulieu-Boycott-Innes Syndrome	Unilateral renal agenesis, Ventricular septal defect, Endometriosis, Horseshoe kidney	OMIM:613680
Mend Syndrome	Abnormal auditory evoked potentials, Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)...	ORPHA:401973
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla...	OMIM:130650
Mpi-Cdg	Hypothyroidism, Hyperinsulinemic hypoglycemia	ORPHA:79319
Oculopharyngodistal Myopathy 1	Respiratory distress, Elevated circulating creatine kinase concentration, Hypercapnia, Facial pal...	OMIM:164310
Potocki-Shaffer Syndrome	Wormian bones	OMIM:601224
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Anorexia, Abdominal pain, Weight loss, Arthritis, Gast...	ORPHA:732
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Fanconi Anemia	Leukopenia, Abnormality of the liver, Abnormality of the uterus, Atrial septal defect, Hypospadia...	ORPHA:84
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia	OMIM:605309
Tyrosinemia, Type I	Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce...	OMIM:276700
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Renal cyst, Atrial septal defect, Intrahepatic biliary dysgenesis,...	OMIM:614866
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Urethral stenosis, Renal...	OMIM:614527
Idiopathic Bronchiectasis	Acute infectious pneumonia, Bronchiectasis, Cachexia	ORPHA:60033
Omenn Syndrome	Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syn...	ORPHA:39041
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Cholangitis, Eczema, Malabsorption, Feeding difficulties in...	ORPHA:3260
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Papilledema, Elevated urinary catecholamine level, Pancreatic islet cel...	ORPHA:892
Nodular Non-Suppurative Panniculitis	Nausea and vomiting, Abdominal pain, Weight loss, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Parietal Foramina 1	Wormian bones	OMIM:168500
Distal Deletion 13Q	Primary adrenal insufficiency	ORPHA:1590
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Recurrent fractures, Micrognathia, ...	ORPHA:2050
Wilson Disease	Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbuminemia, Hepatic steato...	OMIM:277900
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Rhinitis, Hypoglycemia, Hyperinsulinemia	ORPHA:230
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Atopic dermatitis, Weight loss	ORPHA:2902
Q Fever	Respiratory distress, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pneumonia, Per...	ORPHA:781
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evok...	OMIM:133540
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Oromandibular Dystonia	Weight loss, Dysphagia	ORPHA:93958
Wilson Disease	Acute hepatic failure, Increased body weight, Hepatitis, Weight loss, Arthritis, Acute hepatitis,...	ORPHA:905
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ...	ORPHA:3464
Autoimmune Hypoparathyroidism	Increased bone mineral density	ORPHA:36913
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Inflammatory abnormality of the skin, Eczema, Diarrhea, Esophageal carcinoma, En...	ORPHA:391487
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin ...	ORPHA:2232
12Q14 Microdeletion Syndrome	Osteopoikilosis, Micrognathia	ORPHA:94063
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Delayed cranial suture closure, Micrognathia	ORPHA:1129
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul...	OMIM:619708
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Spondylometaphyseal Dysplasia, Pagnamenta Type	Wormian bones, Thin bony cortex	OMIM:619638
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Osteogenesis Imperfecta, Type Xxi	Wormian bones, Osteoporosis, Recurrent fractures, Joint hypermobility	OMIM:619131
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Hypoka...	OMIM:617913
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S...	OMIM:610199
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Tachypnea, Microtia, Low-set ears, Pulmonary arterial hypertension	OMIM:613320
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Osteogenesis Imperfecta, Type Vii	Osteopenia, Wide cranial sutures, Recurrent fractures, Protrusio acetabuli, Multiple prenatal fra...	OMIM:610682
Gallbladder Neuroendocrine Tumor	Anorexia, Biliary tract neoplasm, Abdominal distention, Episodic abdominal pain, Weight loss, Cho...	ORPHA:100086
Pulmonary Non-Tuberculous Mycobacterial Infection	Diarrhea, Bronchiectasis, Weight loss	ORPHA:411703
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Nausea, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Pancreatitis, S...	ORPHA:544482
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Low-set ears	OMIM:617022
Van Maldergem Syndrome 1	Osteopenia, Joint laxity, Wide cranial sutures, Micrognathia, Hypoplasia of the maxilla, Wide ant...	OMIM:601390
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Precocious ...	ORPHA:96191
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Malabsorption, Intestina...	ORPHA:537
Hypermanganesemia With Dystonia 1	Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirub...	OMIM:613280
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Intussusception	Intussusception	OMIM:147710
Prader-Willi Syndrome	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ...	OMIM:176270
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Abnormal pinna morphology, Septate vagina, Complete atrioventricular canal de...	OMIM:617925
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Respiratory distress, Optic disc pallor, ...	OMIM:615512
Addison Disease	Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Adrenal cal...	ORPHA:85138
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Elevated circulating creatine kinase concentration, Cardiomegaly, Pollakisuria, Brachial plexus n...	ORPHA:268
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Hypocalcemia, Abnormality of the uterus, Conductive hearing impairment,...	ORPHA:567
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma, Posterior helix pit, N...	ORPHA:116
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglyc...	ORPHA:71212
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Carney Triad	Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma	ORPHA:139411
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Apnea, Decreased response to growth hormone stimulation test, Fetal ascites, Hypocalcemia, Aspira...	OMIM:619503
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Hypoxemia, Atrial septal defect, Paten...	ORPHA:439
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties	OMIM:616801
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concent...	OMIM:612852
Ppoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97278
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Pre...	ORPHA:90794
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Weight loss, Feeding difficulties	ORPHA:221098
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Abdominal distention, Microcolon	OMIM:619362
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Spontaneous pneumothorax, Repeated pneumothoraces, Cryptorchidism, Cystocele, Pn...	OMIM:130050
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Leukopenia, Abnormality of ...	ORPHA:1304
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Viral hepatitis, Hepatocellular carcinoma, Abnormal...	ORPHA:101330
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Neph...	ORPHA:29073
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Thickened cortex of long bones, Delayed closure of the anterior f...	OMIM:127000
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Tachypnea,...	ORPHA:3427
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Weig...	ORPHA:913
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis...	OMIM:269200
Meningioma	Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re...	ORPHA:2495
Systemic Capillary Leak Syndrome	Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Weight loss, Pancreatitis	ORPHA:188
Imerslund-Gräsbeck Syndrome	Angular cheilitis, Poor appetite, Weight loss, Vomiting, Constipation, Failure to thrive, Glossitis	ORPHA:35858
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Anotia, Microtia, Bone marrow hypocellularity, Aplas...	OMIM:614083
Duplication Of The Pituitary Gland	Abnormal hypothalamus morphology, Abnormal pituitary gland morphology	ORPHA:314621
Congenital Disorder Of Glycosylation, Type Im	Aspiration, Dilated cardiomyopathy, Hypsarrhythmia, Increased circulating free fatty acid level	OMIM:610768
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infections, Perianal ab...	ORPHA:2968
Fraser Syndrome 1	Hypospadias, Abnormal pinna morphology, Cryptorchidism, Cupped ear, Renal hypoplasia, Abnormal he...	OMIM:219000
Adrenoleukodystrophy	Hypogonadism, Primary adrenal insufficiency	OMIM:300100
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Peric...	ORPHA:167
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocyto...	ORPHA:14
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Weight loss	ORPHA:133
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin concentration,...	ORPHA:90041
Lessel-Kreienkamp Syndrome	Wide cranial sutures, Dental malocclusion	OMIM:619149
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphatic leukemia, Increased proportion ...	OMIM:616005
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Diarrhea, Hepatocellular adenoma, Enterocolitis, Ulcerative colitis, Gout, Thyroiditis, Inflammat...	ORPHA:79259
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Facial palsy, Respiratory insufficiency, Highly elevated creatine kinase, Respir...	ORPHA:258
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Posteriorly rotated ears, Decreased response to growth hormone stimulat...	OMIM:615866
Osteogenesis Imperfecta, Type Ii	Recurrent fractures, Multiple prenatal fractures, Absent ossification of calvaria, Large fontanel...	OMIM:166210
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration	ORPHA:2004
Neuropathy, Congenital Hypomyelinating, 3	Gastroesophageal reflux, Cachexia, High palate, Narrow palate	OMIM:618186
Blomstrand Lethal Chondrodysplasia	Natal tooth, Increased bone mineral density, Synostosis of joints, Micrognathia	ORPHA:50945
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T...	ORPHA:158048
Marbach-Rustad Progeroid Syndrome	Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Eruption failure, ...	OMIM:619322
Meckel Syndrome, Type 1	Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Asplenia...	OMIM:249000
Danon Disease	Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca...	OMIM:300257
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Hepatomegaly, Orthopnea, Elevated circulating creatine kinase concentration...	ORPHA:365
Cutis Laxa, Autosomal Recessive, Type Iiia	Wide cranial sutures, Congenital hip dislocation, Large fontanelles, Hip dislocation, Wormian bon...	OMIM:219150
Primary Sclerosing Cholangitis	Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Hepatocellular ca...	ORPHA:171
Non-Functioning Paraganglioma	Episodic abdominal pain, Nausea, Weight loss	ORPHA:94080
Mucopolysaccharidosis Type 3	Hepatomegaly, Mixed hearing impairment, Thickened helices, Cardiomegaly, Adenoiditis, Splenomegal...	ORPHA:581
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati...	ORPHA:3243
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis	OMIM:618476
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Diabetes mellit...	ORPHA:99889
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Apnea, Splenomegaly, EEG abnormality, Low-set ears, Neutropenia, Macrotia	OMIM:617050
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiecta...	OMIM:616100
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple...	OMIM:222700
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Pericarditis, Mediastinal lymphadenopathy, Splenomegaly, Dyspnea,...	ORPHA:809
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating copper concentration, Sp...	OMIM:300972
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Posteriorly rotated ears, Cardiomegaly, Cryptorchidism, EEG with burst suppression,...	OMIM:618143
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per...	ORPHA:206443
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Ogden Syndrome	Apnea, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic...	OMIM:300855
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Arterial Calcification, Generalized, Of Infancy, 1	Neonatal respiratory distress, Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis, Hypop...	OMIM:208000
Mcdonough Syndrome	Cachexia	ORPHA:2471
Lymphatic Malformation 6	Abnormal pinna morphology, Splenomegaly, Cupped ear, Hydrocele testis, Pleural effusion, Chylotho...	OMIM:616843
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hepatocellular carcinoma, Decreased glomerular fi...	OMIM:232220
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Apnea, Bicuspid aortic valve, Aspiration pneumonia, Vesicoureteral reflux, Atrial septal defect, ...	ORPHA:438213
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Profound hearing...	OMIM:619418
Townes-Brocks Syndrome 1	Bifid scrotum, Vesicoureteral reflux, Atrial septal defect, Multicystic kidney dysplasia, Hypospa...	OMIM:107480
Myasthenia Gravis	Hyperthyroidism, Abnormal thymus morphology, Primary adrenal insufficiency, Hashimoto thyroiditis	ORPHA:589
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Hip dislocation, Wormian bones, Delayed cranial suture closure	OMIM:616603
Pancreatoblastoma	Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting	ORPHA:677
Beck-Fahrner Syndrome	EEG abnormality, Protruding ear, Ventricular septal defect, Cardiomegaly	OMIM:618798
Infantile Krabbe Disease	Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction ...	ORPHA:206436
Apparent Mineralocorticoid Excess	Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir...	ORPHA:320
Craniofaciofrontodigital Syndrome	Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp...	ORPHA:363705
Desmosterolosis	Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita, Mi...	OMIM:602398
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Cardiomegaly, Pericardial effusion, EEG with burst suppression, Incr...	OMIM:261740
Isolated Succinate-Coq Reductase Deficiency	Feeding difficulties in infancy, Weight loss	ORPHA:3208
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia	ORPHA:1389
Polycythemia Vera	Hepatomegaly, Epistaxis, Portal hypertension, Pulmonary embolism, Portal vein thrombosis, Splenom...	ORPHA:729
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Hepatomegaly, Optic disc pallor, Apnea, Hypospadias, Optic neurop...	OMIM:252010
Menkes Disease	Joint laxity, Wormian bones, Osteoporosis	OMIM:309400
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid...	OMIM:230000
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Sinusitis, Thrombocytopenia, Splenomegaly, Lymphadenopathy, L...	OMIM:617591
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Biliary hyperplasia, Hyperlipid...	ORPHA:567983
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Wide cranial sutures, Micrognathia, Hypoplasia of the maxilla, Dental ...	OMIM:257850
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy...	OMIM:600955
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Sensorineural hearing impairment, Schistocytosis, Hypochromic...	OMIM:616084
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Tachypnea, Optic atrophy, Renal cyst, Poly...	ORPHA:137675
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Large posterior fontanelle, Abnormal dental enamel morphology, Tarsal synostosis, Micrognathia, W...	ORPHA:85199
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Increased bone mineral density, Reduced bone mineral density, Hyperost...	ORPHA:79443
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Hypospadias, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorch...	ORPHA:96182
Fucosidosis	Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, Hearing impair...	ORPHA:349
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati...	OMIM:609441
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Weight loss	ORPHA:86884
Cocaine Intoxication	Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n...	ORPHA:90068
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure	ORPHA:331
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Posteriorly rotated ears, Abnormal pinna morphology, Spl...	OMIM:269860
Tenorio Syndrome	Osteopenia, Delayed cranial suture closure, Mandibular prognathia, Joint laxity	OMIM:616260
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Abnormal au...	OMIM:105210
Hennekam Syndrome	Ectopic kidney, Pericardial effusion, Splenomegaly, External ear malformation, Pulmonary lymphang...	ORPHA:2136
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Familial Aortic Dissection	Exertional dyspnea, Paroxysmal dyspnea, Cardiomegaly	ORPHA:229
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Micrognathia	OMIM:241410
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,...	ORPHA:99027
Atypical Werner Syndrome	Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin concentration, Insulin-resistant diab...	ORPHA:79474
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Bartsocas-Papas Syndrome 1	Absent external genitalia, Bilateral cryptorchidism, Ectopic kidney, Cupped ear, Hypoplastic labi...	OMIM:263650
Leprechaunism	Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism...	ORPHA:508
Niemann-Pick Disease, Type C2	Hepatomegaly, Neonatal respiratory distress, Fetal ascites, Bone-marrow foam cells, Splenomegaly,...	OMIM:607625
Glucagonoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Anorexia, Po...	ORPHA:97280
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Conductive hearing impairment, Micropenis, Simp...	OMIM:201750
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Respiratory failure ...	ORPHA:77293
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Ectopic ossification, Increased bone mineral density, Enamel hypoplasia	ORPHA:79444
Osteosarcoma	Weight loss	ORPHA:668
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Recurrent fractures, Micrognathia, Hypoplasia of the maxilla, Hyperext...	OMIM:601812
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Abnorm...	OMIM:214500
Grfoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97261
Lysosomal Acid Lipase Deficiency	Nausea and vomiting, Fatal liver failure in infancy, Cachexia, Abdominal pain, Abdominal distenti...	ORPHA:275761
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leuk...	ORPHA:32960
Somatostatinoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97283
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Bicornuate uterus, Uterus didelphys	ORPHA:958
Sanjad-Sakati Syndrome	Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia	ORPHA:2323
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Acrorenal-Mandibular Syndrome	Absent nipple, Posteriorly rotated ears, Abnormality of the ureter, Uterus didelphys, Bicornuate ...	OMIM:200980
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Protruding ear, Gonadal dysgenesis, ...	OMIM:618820
Gm1 Gangliosidosis	Weight loss, Feeding difficulties, Macroglossia, Gastroesophageal reflux, Aspiration pneumonia, D...	ORPHA:354
Castleman Disease	Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Abdominal...	ORPHA:160
Thymic Carcinoma	Weight loss	ORPHA:99868
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem...	OMIM:608885
Silver-Russell Syndrome 1	Delayed cranial suture closure, Micrognathia	OMIM:180860
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Apnea, Abnormal pulmonary valve morphology, Splenomegaly, Lymphadenopathy, Hypocalc...	ORPHA:667
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar...	ORPHA:90291
Plague	Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Lymphadenitis, Erythema nodosum, D...	ORPHA:707
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Sinusitis, Abnormality of neutrophils, Splenomegaly, Mediastinal lym...	ORPHA:379
Van Maldergem Syndrome 2	Osteopenia, Joint laxity, Wide cranial sutures, Micrognathia, Hypoplasia of the maxilla, Wide ant...	OMIM:615546
Isolated Biliary Atresia	Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of...	ORPHA:3109
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Congenital Disorder Of Glycosylation, Type Ib	Hyperinsulinemic hypoglycemia	OMIM:602579
Ulnar-Mammary Syndrome	Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Renal hypoplasia, Breast aplasia,...	ORPHA:3138
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Abdominal pain, Esophage...	ORPHA:36426
Tropical Endomyocardial Fibrosis	Hepatomegaly, Orthopnea, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement,...	ORPHA:75565
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentr...	OMIM:615688
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Primary adrenal insufficiency, Increase...	ORPHA:95409
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Sagittal craniosynostosis, Limited elbow moveme...	OMIM:101200
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Congenital hip dislocation, Large fontanelles, Wormian bones, Joint hypermobility	OMIM:612940
Hereditary Orotic Aciduria	Low-set, posteriorly rotated ears, Orotic acid crystalluria, Splenomegaly, Abnormality of the ure...	ORPHA:30
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ...	ORPHA:562639
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Neonatal respiratory distress, Decreased response to growth hormone stimulation test, Interictal ...	OMIM:618922
Cerebrotendinous Xanthomatosis	Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct...	ORPHA:909
Behçet Disease	Gastrointestinal hemorrhage, Nausea and vomiting, Myositis, Increased inflammatory response, Acne...	ORPHA:117
Pneumocystosis	Acute infectious pneumonia, Chronic oral candidiasis, Interstitial pneumonitis, Weight loss	ORPHA:723
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Bronchiectasis, Weight loss	ORPHA:79127
Tropical Pancreatitis	Malnutrition, Weight loss, Chronic calcifying pancreatitis, Vomiting, Nausea	ORPHA:103918
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Parotitis, Elevated ...	OMIM:256040
Renal Agenesis	Renal insufficiency, Absent vas deferens, Proteinuria, Ventricular septal defect, Unilateral rena...	ORPHA:411709
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Hepatomegaly, Splenomegaly, Hydrometrocolpos, Horseshoe kidney, Low-set ear...	OMIM:617088
Rheumatoid Arthritis	Rheumatoid arthritis, Weight loss	OMIM:180300
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Proteinu...	ORPHA:77261
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Ventricular septal defect, Eosinophilia, Pancreatic cysts, Leukocytosis, Ve...	OMIM:274000
Familial Thyroid Dyshormonogenesis	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Delayed cranial sut...	ORPHA:95716
Fumarase Deficiency	Necrotizing enterocolitis, Failure to thrive, High palate, Hepatic failure	OMIM:606812
Gaucher Disease	Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Recurrent fractures...	ORPHA:355
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Central adrenal insufficiency, Decreased response to growth hormone stimulation test	OMIM:616007
Erdheim-Chester Disease	Joint swelling, Increased bone mineral density, Osteomyelitis, Osteolysis	ORPHA:35687
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Optic atrophy, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glyco...	OMIM:619259
Peroxisome Biogenesis Disorder 4B	Adrenal insufficiency	OMIM:614863
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis	OMIM:618541
Esophageal Atresia	Respiratory distress, Ventricular septal defect, Abnormal external genitalia, Episodic respirator...	ORPHA:1199
Tbck-Related Intellectual Disability Syndrome	Hyperthyroidism, Decreased response to growth hormone stimulation test, Cryptorchidism, Central a...	ORPHA:488632
Solitary Fibrous Tumor	Neoplasm of the liver, Constipation, Weight loss	ORPHA:2126
Neuroblastoma, Susceptibility To, 1	Abdominal pain, Diarrhea, Failure to thrive, Weight loss	OMIM:256700
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Adrenal insufficiency, Hypohidrosis	OMIM:615510
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure...	ORPHA:371364
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Rett Syndrome	Constipation, Gastroesophageal reflux, Cachexia	OMIM:312750
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abdominal pain, Diarrhea, Weight loss	ORPHA:54251
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus, Increased circulating gonadotropin level, Cupped ear	OMIM:110100
Cdags Syndrome	Sagittal craniosynostosis, Large fontanelles, Lambdoidal craniosynostosis, Coronal craniosynostos...	OMIM:603116
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Secret...	OMIM:619573
Al Amyloidosis	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Gastroparesis, Abdominal ...	ORPHA:85443
Osteogenesis Imperfecta, Type Xx	Multiple prenatal fractures, Wormian bones, Retrognathia, Mandibular prognathia	OMIM:618644
Autoimmune Lymphoproliferative Syndrome	Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,...	ORPHA:3261
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Pericardial effusion, ...	OMIM:181000
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral...	OMIM:301068
Simple Cryoglobulinemia	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Membranopro...	ORPHA:91139
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus	ORPHA:1521
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Ileal atresia, Abdominal distention, Peritonitis, Pyelonephritis, Microcolon	OMIM:619351
Fg Syndrome Type 1	Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Gastroesophageal ref...	ORPHA:93932
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Recurrent pneumoni...	OMIM:252500
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Weight loss, Neoplasm of the l...	ORPHA:100085
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Urinary incontinence, Optic nerve hypoplasia, Decreased nerv...	ORPHA:101085
Digeorge Syndrome	Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hepat...	OMIM:188400
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Absence Of The Pulmonary Artery	Orthopnea, Cardiomegaly, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Abnor...	ORPHA:980
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Gaucher Disease, Type Ii	Hepatomegaly, Apnea, Splenomegaly, Anemia, Stridor, Cough, Recurrent aspiration pneumonia, Thromb...	OMIM:230900
Fraser Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Small scrotum, Hypospadias, Multicystic k...	ORPHA:2052
Giant Cell Arteritis	Pericarditis, Anorexia, Abdominal pain, Weight loss, Arthritis, Gastrointestinal infarctions, Hep...	ORPHA:397
Bronchial Neuroendocrine Tumor	Pneumonia, Bowel urgency, Poor appetite, Anorexia, Weight loss, Protracted diarrhea, Hepatic failure	ORPHA:97287
Vipoma	Nausea and vomiting, Anorexia, Malabsorption, Poor appetite, Secretory diarrhea, Weight loss, Hem...	ORPHA:97282
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Micrognathia, Joint hyperflexibility, Wormian...	ORPHA:2789
Common Variable Immunodeficiency	Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiectasis, Lymphaden...	ORPHA:1572
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, Rheumatoid arthritis,...	ORPHA:79128
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Optic atrophy, Hypocalcemic seizures, Optic nerv...	OMIM:612301
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Epistaxis, Abnormal number of alpha granules	OMIM:139090
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Cryptorchidism, Adrenal insufficiency, Chronic pancreatitis	OMIM:307030
Cryptogenic Organizing Pneumonia	Anorexia, Weight loss	ORPHA:1302
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Abdominal pain, Weight loss, Arth...	ORPHA:93672
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperextensibility of the finger joints, Hip dislocation, Joint subluxation, Wormian bones, Joint...	OMIM:617821
X-Linked Cerebral Adrenoleukodystrophy	Male hypogonadism, Decreased circulating cortisol level, Primary adrenal insufficiency	ORPHA:139396
Silver-Russell Syndrome	Failure to thrive in infancy, Cachexia, Obesity, Feeding difficulties, Gastroesophageal reflux, C...	ORPHA:813
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tachypnea, Abnormal hea...	ORPHA:3384
Pelizaeus-Merzbacher Disease	Bowel incontinence, Failure to thrive in infancy, Cachexia	ORPHA:702
Frank-Ter Haar Syndrome	Osteopenia, Delayed cranial suture closure, Micrognathia, Wide anterior fontanel, Osteoporosis, D...	OMIM:249420
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Immunodeficiency 49	Wormian bones, Natal tooth, Micrognathia	OMIM:617237
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Mandibuloacral Dysplasia With Type A Lipodystrophy	Flexion contracture, Limitation of joint mobility, Osteolysis, Large fontanelles, Osteolytic defe...	ORPHA:90153
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia	OMIM:620185
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality, Urinary incontinence	ORPHA:206448
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Abdominal pain, Ileus, Constipation, Microcolon	ORPHA:163746
Waardenburg Syndrome	Aganglionic megacolon, Abnormality of the uterus, Conductive hearing impairment, Abnormal vagina ...	ORPHA:3440
Fibrochondrogenesis 1	Wide anterior fontanel, Widely patent coronal suture, Camptodactyly, Joint contracture of the han...	OMIM:228520
Currarino Syndrome	Neurogenic bladder, Urinary incontinence, Septate vagina, Horseshoe kidney, Bicornuate uterus, Re...	OMIM:176450
Lethal Acantholytic Erosive Disorder	Abnormal pinna morphology, Cardiomegaly, Cardiomyopathy, Respiratory failure, Abnormal helix morp...	ORPHA:158687
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Diarrhea, Small for gestational age, Weight loss	ORPHA:424
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Posteriorly rotated ears, Aganglionic megacolon, Unilateral renal agen...	OMIM:154400
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Ventricular septal defect, Anterior pituitary hypopla...	OMIM:181450
Loeffler Endocarditis	Pericarditis, Weight loss	ORPHA:75566
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Cholecystitis, Hepatomegaly, Neut...	ORPHA:99827
Glycogen Storage Disease Ic	Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepatocellular carci...	OMIM:232240
Floating-Harbor Syndrome	Hypospadias, Precocious puberty, Cryptorchidism, Conductive hearing impairment, Tetralogy of Fall...	ORPHA:2044
Wiskott-Aldrich Syndrome	Sinusitis, Eczema, Hematemesis, Keratitis, Chronic diarrhea, Hematochezia, Arthritis, Inflammatio...	ORPHA:906
Zellweger Syndrome	Cryptorchidism, Primary adrenal insufficiency	ORPHA:912
Baraitser-Winter Cerebrofrontofacial Syndrome	Prominent metopic ridge, Micrognathia, Joint stiffness, Large fontanelles, Osteochondrosis, Retro...	ORPHA:2995
Tetraamelia Syndrome 1	Adrenal gland agenesis	OMIM:273395
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen...	ORPHA:284339
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Cachexia, Abnormal large intestine morphology, Narrow palate, Hamartomatous...	ORPHA:109
Lateral Meningocele Syndrome	Vertebral fusion, Micrognathia, Sclerosis of skull base, Wormian bones, Joint hypermobility	OMIM:130720
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,...	ORPHA:50918
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Systemic Mastocytosis With Associated Hematologic Neoplasm	Peptic ulcer, Abdominal pain, Diarrhea, Weight loss, Nausea	ORPHA:98849
Sclerosteosis 1	Mandibular prognathia, Sclerotic scapulae, Dental malocclusion, Facial palsy secondary to cranial...	OMIM:269500
Floating-Harbor Syndrome	Hypospadias, Posteriorly rotated ears, Cryptorchidism, Conductive hearing impairment, Glandular h...	OMIM:136140
Gapo Syndrome	Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Micrognathia, Wide an...	OMIM:230740
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy	OMIM:616881
Peripheral Primitive Neuroectodermal Tumor	Nausea and vomiting, Anorexia, Abdominal distention, Episodic abdominal pain, Weight loss, Pancre...	ORPHA:370348
Lenz-Majewski Hyperostotic Dwarfism	Joint laxity, Hyperextensibility of the finger joints, Mandibular prognathia, Micrognathia, Humer...	OMIM:151050
Familial Mediterranean Fever	Pericarditis, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephrocalcinosis...	ORPHA:342
Autosomal Dominant Kenny-Caffey Syndrome	Persistence of primary teeth, Carious teeth, Cortical thickening of long bone diaphyses, Decrease...	ORPHA:93325
Wiskott-Aldrich Syndrome	Eczema, Hematemesis, Diarrhea, Chronic diarrhea, Recurrent pneumonia, Ulcerative colitis, Melena,...	OMIM:301000
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Ellipto...	OMIM:616959
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Sinusitis, Pericarditis...	ORPHA:900
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Vesicoureteral ref...	ORPHA:857
Acute Monoblastic/Monocytic Leukemia	Anorexia, Weight loss	ORPHA:514
Paroxysmal Nocturnal Hemoglobinuria	Pulmonary embolism, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Erythroid hyperplasia, He...	ORPHA:447
7Q11.23 Microduplication Syndrome	Low-set, posteriorly rotated ears, Atrial septal defect, Ventricular septal defect, Hypospadias, ...	ORPHA:96121
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Septo-optic dysplasia, Aganglionic megacolon, Abnormality of t...	ORPHA:59315
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Malabsorption, Weight loss	ORPHA:79430
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Diarrhea, Hepatitis, Atopic de...	OMIM:615846
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Neonatal respiratory distress, Apnea, Ventricular septal defect, Stridor, Low-set ears, Aspiration	OMIM:614653
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Dyspnea, Bronchiectasis, Uterine prolapse, Emphysema	OMIM:123700
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Micrognathia, Osteoporosis, Dental malocclusion, Foot acroosteolysis, O...	OMIM:102500
Joubert Syndrome 21	Apnea, Dyspnea, Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Megalopapilla, Ren...	OMIM:615636
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Cryptorchidism, Uterus ...	ORPHA:93271
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Pulmonary embolism, Neoplasm of the thymus, Splenomegaly...	ORPHA:744
Developmental And Epileptic Encephalopathy 38	Aspiration, Hypsarrhythmia	OMIM:617020
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Pericarditis, Chilblains, Weight loss, Feeding difficulties, Failure to thrive	OMIM:619487
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ventricular septal defect, Hypospadias, Enlarged labia minora, Posteriorly rota...	OMIM:268300
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, I...	OMIM:306400
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenomegaly, Chronic lymphatic leukemi...	ORPHA:51
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thromb...	OMIM:153670
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Enthesitis, Uveitis, Weight loss, ...	ORPHA:85408
Ogden Syndrome	Microretrognathia, Delayed cranial suture closure	ORPHA:276432
Turner Syndrome Due To Structural X Chromosome Anomalies	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:99413
8P23.1 Microdeletion Syndrome	High palate, Obesity, Weight loss	ORPHA:251071
Mosaic Monosomy X	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:99228
Monosomy X	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:99226
Turner Syndrome	High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr...	ORPHA:881
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Macrotia, Abnormal thymus morphology, Cardiomegaly	ORPHA:2463
Acute Promyelocytic Leukemia	Stomatitis, Abdominal pain, Anorexia, Weight loss	ORPHA:520
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron...	OMIM:271520
Chronic Graft Versus Host Disease	Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation, Esophageal stricture, Diarrhea...	ORPHA:99921
Juvenile Amyotrophic Lateral Sclerosis	Gastrostomy tube feeding in infancy, Cachexia, Dysphagia	ORPHA:300605
Frontometaphyseal Dysplasia 2	Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha...	OMIM:617137
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, I...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, I...	OMIM:233710
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Dyspnea, Right atrial enlargement, Abnormality of the hepatic vascula...	ORPHA:1677
Wolf-Hirschhorn Syndrome	Accessory spleen, Ventricular septal defect, Hypospadias, Abnormal pinna morphology, Precocious p...	OMIM:194190
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Atrial septal defect, Micropenis, ...	OMIM:243800
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Flexion contracture, Delayed cranial suture closure	OMIM:619383
Halperin-Birk Syndrome	Aspiration, Perimembranous ventricular septal defect, Optic atrophy, Hearing impairment	OMIM:618651
Bohring-Opitz Syndrome	Low-set, posteriorly rotated ears, Apnea, Cardiomegaly, Optic atrophy, Abnormal cardiac septum mo...	ORPHA:97297
Acrofacial Dysostosis, Rodríguez Type	Microtia, Abnormality of the uterus	ORPHA:1788
Bilateral Perisylvian Polymicrogyria	EEG with polyspike wave complexes, EEG with parietal focal spikes, Ectopic posterior pituitary, E...	ORPHA:98889
Perry Syndrome	Weight loss	OMIM:168605
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Weight loss	ORPHA:764
Primary Hyperoxaluria	Generalized osteosclerosis, Recurrent fractures, Abnormal dental pulp morphology	ORPHA:416
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density	OMIM:259900
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Prominent antitragus, Mitral valve pro...	OMIM:245600
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Prim...	OMIM:619534
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, I...	OMIM:233690
Hereditary Late-Onset Parkinson Disease	Chronic constipation, Weight loss, Dysphagia	ORPHA:411602
Peters-Plus Syndrome	Hypoplasia of the vagina, Ureteral duplication, Ventricular septal defect, Bilobate gallbladder, ...	OMIM:261540
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Conjunctivitis, Chronic otitis media	OMIM:608710
Malt Lymphoma	Nausea and vomiting, Abdominal pain, Weight loss, Constipation, Posterior uveitis	ORPHA:52417
Peters Plus Syndrome	Low-set, posteriorly rotated ears, Ureteral duplication, Multicystic kidney dysplasia, Hypospadia...	ORPHA:709
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C...	ORPHA:904
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, EEG abnormality, Cardiomyopathy, Abnormal autonomic nervous system p...	ORPHA:2131
Parathyroid Carcinoma	Nausea and vomiting, Peptic ulcer, Episodic abdominal pain, Weight loss, Constipation, Dysphagia,...	ORPHA:143
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Gastroparesis, Weight loss, Intestinal pseudo-obstruction, Dysphagia	OMIM:607459
Generalized Arterial Calcification Of Infancy	Respiratory distress, Ventricular hypertrophy, Stapes ankylosis, Mixed hearing impairment, Calcif...	ORPHA:51608
Short Syndrome	Poor appetite, Weight loss	ORPHA:3163
19Q13.11 Microdeletion Syndrome	Failure to thrive, Cachexia, Feeding difficulties	ORPHA:217346
Lacrimoauriculodentodigital Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Cryptorchidism, Sensorineural hearing impair...	ORPHA:2363
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
De Barsy Syndrome	Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterio...	ORPHA:2962
Neu-Laxova Syndrome 1	Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great arteries, Low...	OMIM:256520
Beta-Ketothiolase Deficiency	Diarrhea, Vomiting, Anorexia, Weight loss	ORPHA:134
Vascular Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Hypospadias, Cryptorchidism, Pneumothorax, Cystocele, Aplasia/Hy...	ORPHA:286
White-Sutton Syndrome	Joint laxity, Wormian bones, Mandibular prognathia, Micrognathia	OMIM:616364
Igg4-Related Retroperitoneal Fibrosis	Nausea and vomiting, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, A...	ORPHA:49041
D-Bifunctional Protein Deficiency	Osteopenia, Micrognathia, Large fontanelles, Retrognathia, Delayed cranial suture closure	OMIM:261515
Hajdu-Cheney Syndrome	Osteopenia, Recurrent fractures, Micrognathia, Osteoporosis, Osteolysis, Abnormal mandible morpho...	ORPHA:955
Nocardiosis	Pericarditis, Osteomyelitis, Pneumonia, Anorexia, Keratitis, Lymphadenitis, Peritonitis, Thyroidi...	ORPHA:31204
Sporadic Pheochromocytoma/Secreting Paraganglioma	Episodic abdominal pain, Nausea, Weight loss	ORPHA:276621
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Abnormal pinna morphology, Cardiomegaly, Cryptorchidism, ...	ORPHA:3472
Familial Gestational Hyperthyroidism	Diarrhea, Weight loss	ORPHA:99819
Diffuse Alveolar Hemorrhage	Weight loss	ORPHA:90060
Riddle Syndrome	Pneumonia, Abdominal pain, Diarrhea, Recurrent pneumonia, Weight loss, Arthritis, Otitis media, R...	ORPHA:420741
Hyperekplexia 1	Aspiration, Apnea	OMIM:149400
Cleft Larynx, Posterior	Aspiration	OMIM:215800
Saethre-Chotzen Syndrome	Proximal radio-ulnar synostosis, Hypoplasia of the maxilla, Delayed cranial suture closure, Crani...	ORPHA:794
Adnp Syndrome	Respiratory distress, Urinary incontinence, Cryptorchidism, Protruding ear, Microtia, Low-set ear...	ORPHA:404448
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Adrenocortical Carcinoma	Abdominal pain, Increased body weight, Weight loss	ORPHA:1501
Reynolds Syndrome	Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Hyperbilirubine...	OMIM:613471
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micrognathia, Osteoarthritis, Flexion contracture, Decre...	ORPHA:666
Hallermann-Streiff Syndrome	Natal tooth, Wormian bones, Micrognathia, Supernumerary tooth, Dental malocclusion, Decreased num...	OMIM:234100
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Pneumonia, Ventricular septal defect, Hypospadias, Cryptorchidism, Asthma,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Pneumonia, Ventricular septal defect, Hypospadias, Cryptorchidism, Asthma,...	ORPHA:353277
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Aspiration, Hypsarrhythmia	ORPHA:2148
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus, Protruding ear	ORPHA:2879
Aredyld Syndrome	Cachexia	ORPHA:1133
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Wrinkly Skin Syndrome	Osteopenia, Microretrognathia, Delayed eruption of teeth, Congenital hip dislocation, Delayed cra...	OMIM:278250
3-Hydroxy-3-Methylglutaric Aciduria	Acute pancreatitis, Anorexia, Reye syndrome-like episodes, Diarrhea, Weight loss, Episodic vomiting	ORPHA:20
Pontine Tegmental Cap Dysplasia	Aspiration, Sensorineural hearing impairment, Facial palsy	OMIM:614688
Mohr Syndrome	Hypoplasia of the maxilla, Wormian bones, Agenesis of central incisor, Micrognathia	OMIM:252100
Hyperparathyroidism, Transient Neonatal	Osteopenia, Wide cranial sutures, Recurrent fractures, Subperiosteal bone formation, Fractured rib	OMIM:618188
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Severe generalized osteoporosis, Micrognathia, Knee flexion contracture, Disloca...	OMIM:210730
Igg4-Related Ophthalmic Disease	Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroiditis, Sialadeni...	ORPHA:449563
Pallister-Hall Syndrome	Thyroid hypoplasia, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenocorticotropic h...	ORPHA:672
X-Linked Intellectual Disability, Cabezas Type	High palate, Obesity, Cachexia	ORPHA:85293
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol...	ORPHA:572333
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Hearing impairment, Enlarged polycystic ovaries...	ORPHA:201
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus	ORPHA:457284
Dubowitz Syndrome	Delayed eruption of teeth, Craniosynostosis, Micrognathia, Wide anterior fontanel, Joint hyperfle...	ORPHA:235
Hennekam-Beemer Syndrome	Camptodactyly of finger, Delayed cranial suture closure, Micrognathia	ORPHA:2135
Rett Syndrome, Congenital Variant	EEG abnormality, Aspiration, Protruding ear	OMIM:613454
Limb-Mammary Syndrome	Absent nipple, Protruding ear, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, ...	ORPHA:69085
Thymic Neuroendocrine Tumor	Weight loss	ORPHA:97289
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Osteomyelitis, Obesity	ORPHA:70591
Menkes Disease	Osteomyelitis, Tarsal synostosis, Recurrent fractures, Micrognathia, Osteoporosis, Joint hyperfle...	ORPHA:565
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Cystic Echinococcosis	Abdominal symptom, Membranous nephropathy, Weight loss	ORPHA:400
Occipital Horn Syndrome	Osteopenia, Osteomalacia, Osteoporosis, Rickets, Osteolysis, Large fontanelles, Hip dislocation, ...	ORPHA:198
Heart Defects, Congenital, And Other Congenital Anomalies	Colon perforation, Intestinal malrotation, Failure to thrive, Microcolon	OMIM:600001
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Fused cervical vertebrae, Flat acetabular roof	OMIM:617159
Osteopetrosis With Renal Tubular Acidosis	Recurrent fractures, Persistence of primary teeth, Micrognathia, Osteopetrosis, Retrognathia	ORPHA:2785
Igg4-Related Kidney Disease	Pericarditis, Inflammatory abnormality of the skin, Abdominal pain, Lymphadenitis, Urinary bladde...	ORPHA:449395
Coffin-Siris Syndrome 1	Hydroureter, Ventricular septal defect, Hypospadias, Abnormal pinna morphology, Posteriorly rotat...	OMIM:135900
Congenital Fiber-Type Disproportion Myopathy	Poor appetite, Nasogastric tube feeding in infancy, Weight loss, Feeding difficulties, High palat...	ORPHA:2020
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Hip dislocation, Osteolytic de...	OMIM:309350
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Wormian bones, Flexion contracture	OMIM:300232
Tay-Sachs Disease	Aspiration	OMIM:272800
Norrie Disease	Cryptorchidism, Sensorineural hearing impairment, Optic atrophy, Protruding ear, EEG abnormality,...	ORPHA:649
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Pneumothorax, Paroxysmal dyspnea, Exertional dyspnea	ORPHA:91387
Spinocerebellar Ataxia Type 8	Aspiration, Urinary incontinence	ORPHA:98760
Robinow Syndrome, Autosomal Recessive 1	Joint laxity, Vertebral fusion, Micrognathia, Wide anterior fontanel, Proximal/middle symphalangi...	OMIM:268310
Nijmegen Breakage Syndrome	Anal stenosis, Cachexia, Anorectal anomaly, Chronic diarrhea, Recurrent pneumonia, Cleft palate, ...	ORPHA:647
Trisomy 18	Cachexia, Esophageal atresia, Narrow palate, Cleft palate, Anal atresia	ORPHA:3380
Alveolar Echinococcosis	Cholangitis, Abdominal pain, Weight loss, Vomiting, Decreased liver function, Cutaneous abscess	ORPHA:284
Multiple Endocrine Neoplasia Type 1	Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Weight loss, Melen...	ORPHA:652
Renal Nutcracker Syndrome	Abdominal pain, Nausea, Weight loss	ORPHA:71273
Marshall-Smith Syndrome	Microretrognathia, Prominence of the premaxilla, Decreased hip abduction, Large sternal ossificat...	OMIM:602535
Hereditary Pheochromocytoma-Paraganglioma	Episodic abdominal pain, Nausea, Weight loss	ORPHA:29072
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short hard palate, Cachexia, Anorexia	ORPHA:1969
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocious puberty, C...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocious puberty, C...	ORPHA:363958
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Wide anterior fontanel, Hip dislocation, Joint subluxation, Pathologic fracture, De...	ORPHA:90349
Curry-Jones Syndrome	Wormian bones, Bicoronal synostosis, Unicoronal synostosis	OMIM:601707
Pmm2-Cdg	Pericarditis, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated...	ORPHA:79318
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Aymé-Gripp Syndrome	Prominent metopic ridge, Craniosynostosis, Limitation of joint mobility, Large fontanelles, Radio...	ORPHA:1272
Doors Syndrome	Adrenal hyperplasia, Congenital hypothyroidism	ORPHA:79500
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Xerostomia, Thyroiditis, Weight loss, Enlargement of parotid gland, Tubulointerstitial ...	ORPHA:79078
Gm2-Gangliosidosis, Ab Variant	Aspiration	OMIM:272750
Developmental And Epileptic Encephalopathy 100	Aspiration, EEG with photoparoxysmal response	OMIM:619777
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Joint stiffness, Flexion contracture, Osteolytic defects of the phalang...	OMIM:619127
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Cornelia De Lange Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular...	ORPHA:199
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Delayed cranial suture closure	OMIM:613038
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Micrognathia, Wide anterior fontanel, Radioulnar synostosis, Sclerosis...	ORPHA:798
Dermatomyositis	Pericarditis, Gastrointestinal stroma tumor, Feeding difficulties in infancy, Myocarditis, Weight...	ORPHA:221
Alström Syndrome	Respiratory distress, Decreased response to growth hormone stimulation test, Urinary incontinence...	ORPHA:64
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Tinnitus, Hearing impairment, Cardiomegaly	ORPHA:79280
Isolated Thyroid-Stimulating Hormone Deficiency	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Delayed cranial sut...	ORPHA:90674
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Ulnar deviation of the wrist, Interphalangeal joint contracture of finger,...	ORPHA:96334
Hunter-Macdonald Syndrome	Premature osteoarthritis, Large fontanelles, Camptodactyly, Cubitus valgus, Joint contracture of ...	OMIM:611962
Xfe Progeroid Syndrome	Failure to thrive, Cachexia	OMIM:610965
Rubinstein-Taybi Syndrome 1	Joint laxity, Delayed cranial suture closure, Micrognathia, Hypoplasia of the maxilla, Wide anter...	OMIM:180849
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Cachexia	ORPHA:220295
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Thyrotoxic Periodic Paralysis	Constipation, Obesity, Weight loss	ORPHA:79102
Mucolipidosis Type Ii	Protuberant abdomen, Gastrostomy tube feeding in infancy, Otitis media, Weight loss	ORPHA:576
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint laxity, Microretrognathia, Joint dislocation, Generalized joint laxity, Large fontanelles, ...	OMIM:601776
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Delayed cranial suture closure, Craniosynostosis, Micrognathia	OMIM:620005
Familial Thrombocytosis	Weight loss	ORPHA:71493
Ayme-Gripp Syndrome	Mandibular prognathia, Radioulnar synostosis, Delayed cranial suture closure, Camptodactyly	OMIM:601088
Mowat-Wilson Syndrome	Dependency on intravenous nutrition, Aganglionic megacolon, Bowel incontinence, Cleft hard palate...	ORPHA:2152
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Abnormal pinna morphology, Cryptorchidism, Anteriorly displaced genit...	OMIM:276820
Microphthalmia, Syndromic 2	Cryptorchidism, Hypothyroidism, Adrenal insufficiency	OMIM:300166
Wrinkly Skin Syndrome	Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Delayed closure of the anterio...	ORPHA:2834
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Cleft of chin, Radioulnar synostosis, Lambdoidal craniosynostosis, Cor...	OMIM:101400
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Delayed closure of the anterior fontanelle, Microg...	OMIM:304120
Stickler Syndrome	Slender build, Cachexia, Feeding difficulties in infancy, Osteoarthritis, Cleft palate, Uveitis, ...	ORPHA:828
Acute Liver Failure	Adrenal insufficiency	ORPHA:90062
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Cervical insufficiency, Mitral valve prolapse, Bladder diverticulum, Tri...	ORPHA:287
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia, Esophageal varix, Feeding difficulties, Gastric ulcer, Bacterial endocarditis	ORPHA:2072
Orofaciodigital Syndrome Type 4	Monorchism, Primary adrenal insufficiency, Absent testis, Decreased testicular size	ORPHA:2753
Pallister-Killian Syndrome	Small scrotum, Ventricular septal defect, Hypospadias, Supernumerary nipple, Hearing impairment, ...	OMIM:601803
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Skin rash, Anorexia, Abdominal pain, Intermediate uve...	ORPHA:91500
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Genu recurvatum, Hip dislocation, Wormian bones, Delayed cranial suture...	ORPHA:90348
Sarcoidosis	Abnormality of the gastrointestinal tract, Maculopapular exanthema, Erythema nodosum, Bronchiecta...	ORPHA:797
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Weight loss	ORPHA:99885
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Large fontanelles, Delayed cranial suture closure	ORPHA:2211
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Atrial septal defect, Uterine prolapse, Bicuspid aortic valve, Pneumotho...	OMIM:613795
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Wormian bones, Micrognathia, Tracheomalacia, Cervical C2/C3 vertebral fusion, Hip subluxation	ORPHA:444077
Medulloblastoma	Delayed cranial suture closure	ORPHA:616
Aneurysm-Osteoarthritis Syndrome	Left ventricular hypertrophy, Uterine prolapse, Pulmonic stenosis, Abnormal heart morphology	ORPHA:284984
Seckel Syndrome	Cachexia	ORPHA:808
Coffin-Siris Syndrome 12	Joint laxity, Micrognathia, Ridged cranial sutures, Radioulnar synostosis, Hip subluxation, Delay...	OMIM:619325
African Trypanosomiasis	Pericarditis, Keratitis, Myocarditis, Diarrhea, Weight loss, Vomiting, Optic neuritis, Conjunctiv...	ORPHA:3385
Marfan Syndrome	Arthralgia/arthritis, Cachexia, High, narrow palate, Cleft palate, Slender build	ORPHA:558
Diamond-Blackfan Anemia 1	Retrognathia, Delayed cranial suture closure, Micrognathia	OMIM:105650
Pulmonary Alveolar Microlithiasis	Bronchiectasis, Weight loss	ORPHA:60025
Restrictive Dermopathy	Submucous cleft hard palate, Microcolon	ORPHA:1662
Cockayne Syndrome	Cachexia, Feeding difficulties in infancy, Keratoconjunctivitis sicca, Gastroesophageal reflux, M...	ORPHA:191
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Delayed cranial sut...	ORPHA:226307
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati...	ORPHA:285
Coffin-Lowry Syndrome	Uterine prolapse, Sensorineural hearing impairment, Hearing impairment, Protruding ear	OMIM:303600
Hutchinson-Gilford Progeria Syndrome	Osteoarthritis, Weight loss, High palate, Severe failure to thrive, Ankyloglossia	ORPHA:740
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Delayed cranial suture closure	OMIM:618653
Choreoacanthocytosis	Arthritis, Weight loss, Dysphagia, Protruding tongue	ORPHA:2388
Camurati-Engelmann Disease	Feeding difficulties in infancy, Slender build, Cachexia, Anorexia	ORPHA:1328
Primary Fanconi Renotubular Syndrome	Weight loss	ORPHA:3337
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Aortic valve stenosis, Subv...	OMIM:182250
1P36 Deletion Syndrome	Camptodactyly of finger, Delayed cranial suture closure, Joint stiffness	ORPHA:1606
Yunis-Varon Syndrome	Wide cranial sutures, Absent sternal ossification, Congenital hip dislocation, Micrognathia, Hip ...	OMIM:216340
Goodpasture Syndrome	Glomerulonephritis, Weight loss	OMIM:233450

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 Anxa1

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 Anxa1.

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

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Anxa10^{em1(IMPC)Wtsi} Anxa11^{em1(IMPC)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Anxa11^{em1(IMPC)Wtsi}	PMC6671969

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Anxa1^{em1(IMPC)Ccpcz}	Exon Deletion	Mice, Tissue
Anxa1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Anxa1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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: Anxa1 MGI:96819

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Anxa1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data