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Gene: Plg MGI:97620

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

plasminogen

Synonyms:

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Plg 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 Plg (3 diseases)
Human diseases predicted to be associated with Plg (1499 diseases)

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

Disease	Matching phenotypes	Source
Plasminogen Deficiency, Type I	Duodenal ulcer, Recurrent upper respiratory tract infections, Conjunctivitis, Periodontitis, Neph...	OMIM:217090
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Periodontitis, Abnormal fallopian tube morphology, Abnormality of the...	ORPHA:722
Angioedema, Hereditary, 4		OMIM:619360

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

Disease	Matching phenotypes	Source
Von Willebrand Disease, X-Linked Form	Prolonged bleeding time	OMIM:314560
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I...	ORPHA:424019
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Solitary Rectal Ulcer Syndrome	Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con...	ORPHA:209964
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia, Ectropion	ORPHA:411777
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea...	ORPHA:263665
Axin2-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer	ORPHA:401911
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H...	OMIM:614480
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea, Ptosis	ORPHA:3217
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Athrombia, Essential	Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion	OMIM:209050
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis...	OMIM:602562
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Impaired platelet aggregation, Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Congenital Ichthyosiform Erythroderma	Keratitis, Corneal erosion, Hypohidrosis, Erythroderma, Failure to thrive, Ectropion	ORPHA:79394
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In...	ORPHA:2869
Lipoma Of The Conjunctiva	Lipoma, Conjunctival lipoma	OMIM:151700
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Folliculitis, Conjunctivitis, Ble...	OMIM:308800
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Pseudo-Von Willebrand Disease	Prolonged bleeding time	OMIM:177820
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Laryngeal papilloma, Thyroiditis, Uveitis, Keratoconjunctivitis sicca, Punctate ker...	OMIM:617388
Xeroderma Pigmentosum, Complementation Group D	Cataract, Entropion, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Melanoma, Conjunctivi...	OMIM:278730
Dermatitis, Atopic	Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Atopic dermatitis, C...	OMIM:603165
Barrett Esophagus	Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux	OMIM:614266
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Malabsorption, Abdominal pain, Abdominal distention, Gas...	OMIM:613662
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse	OMIM:176780
Gastric Cancer	Stomach cancer	OMIM:613659
Chronic Graft Versus Host Disease	Fasciitis, Anorexia, Xerostomia, Gastroesophageal reflux, Nausea, Abdominal pain, Bronchiectasis,...	ORPHA:99921
Desmoid Disease, Hereditary	Colorectal polyposis, Colon cancer, Desmoid tumors	OMIM:135290
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Idiopathic Pulmonary Fibrosis	Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Gastroesophageal refl...	ORPHA:2032
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer	OMIM:126840
Xeroderma Pigmentosum, Variant Type	Entropion, Keratitis, Squamous cell carcinoma, Cutaneous telangiectasia, Basal cell carcinoma, Co...	OMIM:278750
Wolfram Syndrome 2	Neurogenic bladder, Primary amenorrhea, Gastric ulcer, Oligomenorrhea, Impaired collagen-induced ...	OMIM:604928
Tatsumi Factor Deficiency	Prolonged bleeding time	OMIM:272650
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Nausea and vomiting, Hepatomegaly, Abnormal large intestine morpholo...	ORPHA:2198
Xeroderma Pigmentosum, Complementation Group E	Entropion, Keratitis, Telangiectasia, Basal cell carcinoma, Melanoma, Conjunctivitis, Squamous ce...	OMIM:278740
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser...	OMIM:231100
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis	OMIM:271500
Plasminogen Deficiency, Type I	Duodenal ulcer, Recurrent upper respiratory tract infections, Conjunctivitis, Periodontitis, Neph...	OMIM:217090
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom...	ORPHA:251992
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Recurrent cutaneous fungal infections, Squamous cell ca...	ORPHA:477
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Hypokalemia, Col...	OMIM:174900
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Menke-Hennekam Syndrome 2	Epicanthus, Duodenal ulcer, Recurrent upper respiratory tract infections, Upslanted palpebral fis...	OMIM:618333
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Corneal astigmatism, Abnormal lacrimal sac morphology, Ectropi...	ORPHA:141083
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer	OMIM:126850
Progeroid Short Stature With Pigmented Nevi	Cataract, Small for gestational age, Hypospadias, Allergic rhinitis, Allergic conjunctivitis, Cho...	OMIM:176690
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Short stature, Hepatocellular carcinoma, Hyperlipide...	ORPHA:369
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Xeroderma Pigmentosum, Complementation Group C	Entropion, Keratitis, Telangiectasia, Basal cell carcinoma, Conjunctivitis, Squamous cell carcino...	OMIM:278720
Lymphedema-Distichiasis Syndrome	Cataract, Recurrent skin infections, Ectropion, Corneal erosion, Cleft palate, Tubulointerstitial...	ORPHA:33001
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu...	ORPHA:424016
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Mitochondrial Neurogastrointestinal Encephalomyopathy	Poor appetite, Gastrointestinal dysmotility, Gastroesophageal reflux, Vomiting, Macrovesicular he...	ORPHA:298
Autosomal Agammaglobulinemia	Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Bronch...	ORPHA:33110
Retinitis Pigmentosa 89	Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic bile...	OMIM:618955
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, Conjunctivitis, Otitis media, Failure to thrive secondar...	OMIM:601457
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis	ORPHA:2111
Blue Rubber Bleb Nevus	Rectal prolapse, Abnormality of the liver, Intestinal bleeding, Volvulus, Intussusception	OMIM:112200
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Bronchitis, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Ab...	OMIM:619381
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Cataract, Cachexia, Malabsorption, Anorexia, Abdominal pain, ...	ORPHA:2930
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Chronic bronchitis, Splenomegaly, Panacinar emphysema, Bronchiecta...	OMIM:613490
Arteriosclerosis, Severe Juvenile	Central retinal vessel vascular tortuosity, Gastric ulcer, Calcification of the aorta, Arterioscl...	OMIM:208060
Juvenile Temporal Arteritis	Vasculitis, Conjunctivitis, Allergic rhinitis, Cerebral ischemia	ORPHA:26137
Lymphoproliferative Syndrome, X-Linked, 2	Recurrent respiratory infections, Hepatomegaly, Acne, Recurrent skin infections, Erythema nodosum...	OMIM:300635
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Necrotizing enterocolitis	OMIM:613860
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Tr...	ORPHA:93941
Interstitial Lung Disease 2	Elevated bronchoalveolar lavage fluid neutrophil proportion, Alveolar cell carcinoma, Pulmonary f...	OMIM:178500
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o...	OMIM:266600
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Jaun...	ORPHA:913
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Luo-Schoch-Yamamoto Syndrome	Tricuspid regurgitation, Highly arched eyebrow, Almond-shaped palpebral fissure, Ectropion of low...	OMIM:619460
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos...	OMIM:278000
Immunodeficiency, Common Variable, 6	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Stage 5 chronic kidney diseas...	OMIM:613496
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Trichothiodystrophy 3, Photosensitive	Failure to thrive, Cataract, Bilateral cryptorchidism, Pyloric stenosis, Developmental cataract, ...	OMIM:616395
Tangier Disease	Hepatomegaly, Myocardial infarction, Cicatricial ectropion, Opacification of the corneal stroma, ...	OMIM:205400
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic...	OMIM:615382
Epidermolysis Bullosa Acquisita	Pruritus, Inflammation of the large intestine, Abdominal pain	ORPHA:46487
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Failure to thrive, Hepatic fibrosis, Protein-losing enteropathy, C...	OMIM:602579
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Idiopathic Achalasia	Bronchitis, Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Recurrent aspiration p...	ORPHA:930
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Immunodeficiency, Common Variable, 2	Hepatomegaly, Recurrent pneumonia, Lymphoma, Bronchiectasis, Neoplasm, Conjunctivitis, Recurrent ...	OMIM:240500
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease	OMIM:613148
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ...	ORPHA:209959
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los...	OMIM:619079
Xeroderma Pigmentosum, Complementation Group A	Entropion, Keratitis, Telangiectasia, Melanoma, Conjunctivitis, Squamous cell carcinoma of the sk...	OMIM:278700
Pseudomyxoma Peritonei	Nausea and vomiting, Abnormal peritoneum morphology, Intestinal obstruction, Abdominal pain, Weig...	ORPHA:26790
Immunodeficiency 46	Failure to thrive, Conjunctivitis, Chronic oral candidiasis	OMIM:616740
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Corneal opacity, Cachexia, Abnormality of the spleen, Splenomegaly, Esophageal varix, Abnormal pu...	ORPHA:2072
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Rectal prolapse, Biliary tract abnorma...	OMIM:175200
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h...	ORPHA:567983
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis, Abnormal conjunctiva morphology, Gastroin...	OMIM:602248
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Wolfram Syndrome	Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Abnormal mesentery m...	ORPHA:3463
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Protein-losing enteropathy, Hepat...	ORPHA:79319
Immunodeficiency, Common Variable, 11	Recurrent respiratory infections, Mucoid diarrhea, Inflammation of the large intestine, Crohn's d...	OMIM:615767
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Ectropion, A...	ORPHA:101330
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Hepatomegaly, Abnormal peritoneum morphology, Neoplasm of the pancreas, Test...	ORPHA:83469
Rotor Syndrome	Abnormal circulating enzyme concentration or activity, Conjunctival icterus, Jaundice, Intermitte...	ORPHA:3111
Mucoepithelial Dysplasia, Hereditary	Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis...	OMIM:158310
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Wolman Disease	Nausea and vomiting, Hepatomegaly, Cachexia, Abdominal distention, Splenomegaly, Malnutrition, Es...	ORPHA:75233
Retinal Dystrophy With Or Without Extraocular Anomalies	Premature ovarian insufficiency, Pulmonary fibrosis, Secondary amenorrhea	OMIM:617175
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3	Pulmonary fibrosis, Usual interstitial pneumonia	OMIM:616373
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Growth delay, Hepatic fibrosi...	OMIM:617341
Neonatal Hemochromatosis	Congenital hepatic fibrosis, Increased serum iron, Increased circulating ferritin concentration, ...	ORPHA:446
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Recurr...	ORPHA:47
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Harlequin Ichthyosis	Ectropion, Cataract, Sudden cardiac death, Erythroderma	ORPHA:457
Palmoplantar Carcinoma, Multiple Self-Healing	Carcinoma, Squamous cell carcinoma, Limbal stem cell deficiency, Chronic rhinitis, Corneal neovas...	OMIM:615225
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Cataract, Sparse eyelashes, Keratitis, Sparse eyebrow, Folliculitis, Conjunctivitis, Blepharitis	OMIM:612843
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Bloody diarrhea	OMIM:619398
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Conjunctivitis, Recurrent sinusitis	OMIM:613493
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Hemophagocytic Lymphohistiocytosis, Familial, 4	Skin rash, Hepatomegaly, Jaundice, Conjunctivitis	OMIM:603552
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Rectal prolapse, Aden...	ORPHA:79076
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Cholestasis, Obesity, Tubulointerstitial nephritis, Hepatic fibro...	OMIM:616629
Chanarin-Dorfman Syndrome	Hepatomegaly, Subcapsular cataract, Hepatic steatosis, Ectropion	OMIM:275630
Blepharo-Cheilo-Odontic Syndrome	Abnormal eyelid morphology, Ectropion of lower eyelids, Bilateral cleft lip and palate, Eurybleph...	ORPHA:1997
Colonic Atresia	Peptic ulcer, Abdominal distention, Abnormal mesentery morphology, Duodenal stenosis, Abdominal s...	ORPHA:1198
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Oligoart...	OMIM:142680
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Periodontitis, Abnormal fallopian tube morphology, Abnormality of the...	ORPHA:722
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Anorexia, Weight loss	ORPHA:52416
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Hypop...	OMIM:106210
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ...	OMIM:232400
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Malabsorption, Chronic kidney disease, Chol...	ORPHA:85445
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Renpenning Syndrome	Epicanthus, Cataract, Hypospadias, Cachexia, High, narrow palate, Cleft palate, Upslanted palpebr...	ORPHA:3242
Hepatoportal Sclerosis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera...	ORPHA:64743
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Increased circulating interleukin 10 concentration, Portal inflammation, Elevated circulating ala...	OMIM:613759
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Skin rash, Genital ulcers, Colitis, Ileal ulcer	OMIM:616744
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypert...	OMIM:208540
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Restrictive Dermopathy 2	Intrauterine growth retardation, Rectal prolapse, Gastroesophageal reflux	OMIM:619793
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diar...	OMIM:614602
Acrodermatitis Enteropathica	Glossitis, Abnormal eyebrow morphology, Abnormal eyelid morphology, Pustule, Malabsorption, Corne...	ORPHA:37
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Entropion, Telangiectasia of the skin, Keratitis, Cryptorc...	ORPHA:910
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney	OMIM:615285
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue, ...	ORPHA:1839
Cystic Fibrosis	Elevated hepatic transaminase, Recurrent respiratory infections, Absent vas deferens, Sinusitis, ...	ORPHA:586
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Ab...	ORPHA:210136
Pfapa Syndrome	Nausea and vomiting, Hepatomegaly, Abdominal pain, Malabsorption, Recurrent pharyngitis, Splenome...	ORPHA:42642
Chromomycosis	Keratitis, Squamous cell carcinoma, Keratoconjunctivitis sicca, Multiple cutaneous malignancies, ...	ORPHA:182
Isolated Congenital Hypoglossia/Aglossia	Nasogastric tube feeding in infancy, Cleft palate, Weight loss, Feeding difficulties, Aspiration ...	ORPHA:141152
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Enterocolitis, Abdominal pain	OMIM:260005
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp...	OMIM:616433
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Hepatomegaly, Dysgammaglobulinemia, Malabsorption, Splenomeg...	ORPHA:100025
Tetrasomy 12P	Telecanthus, Cachexia, Abnormal soft palate morphology, Sparse eyebrow, Upslanted palpebral fissu...	ORPHA:884
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosin...	OMIM:617638
Retinopathy Of Prematurity	Retinal arteriolar tortuosity, Vitreous hemorrhage, Abnormal retinal vascular morphology, Small f...	ORPHA:90050
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Ptosis, Arthritis, Gastric ulcer, Gastric hypertrophy	OMIM:161700
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Bitot spots of the conjunctiva	OMIM:277350
Lacrimal Duct Defect	Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele	OMIM:149700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Honeycomb lung, Pulmonary fibrosis	OMIM:616371
Glanzmann Thrombasthenia 2	Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ...	OMIM:619267
Inflammatory Bowel Disease 11	Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine	OMIM:191390
Autosomal Recessive Spastic Paraplegia Type 70	Nephrotic syndrome, Abnormal pulmonary interstitial morphology	ORPHA:401835
Spondyloocular Syndrome	Cataract, Unilateral cryptorchidism, Duodenal ulcer, Posterior subcapsular cataract, Decreased bo...	OMIM:605822
Blepharocheilodontic Syndrome 2	Distichiasis, Ectropion of lower eyelids, Euryblepharon, Lagophthalmos	OMIM:617681
Tularemia	Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis media, Conjunctival h...	ORPHA:3392
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly...	ORPHA:157798
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Recurrent upper respiratory tract i...	OMIM:209920
Cystic Fibrosis	Male infertility, Hepatomegaly, Meconium ileus, Recurrent bronchopulmonary infections, Rectal pro...	OMIM:219700
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasi...	OMIM:618108
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ...	OMIM:232700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Obesity	ORPHA:88643
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Elevated hepatic transaminase, Conjunctivitis, Elevated gamma-glutamyltransferase le...	OMIM:242150
Lymphedema-Distichiasis Syndrome	Ectropion, Cleft palate, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions, Arrhythm...	OMIM:153400
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Hepatosplenomegal...	OMIM:619858
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphol...	OMIM:612387
Dermatopathia Pigmentosa Reticularis	Abnormal conjunctiva morphology, Hypohidrosis	OMIM:125595
Usmani-Riazuddin Syndrome, Autosomal Recessive	Epicanthus, Conjunctival hyperemia, High palate	OMIM:619548
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Intestinal Dysmotility Syndrome	Projectile vomiting, Cataract, Abdominal distention, Diarrhea, Weight loss, Decreased intestinal ...	OMIM:620045
Zika Virus Disease	Maculopapular exanthema, Skin rash, Subcutaneous hemorrhage, Arthritis, Conjunctivitis, Lens subl...	ORPHA:448237
Muckle-Wells Syndrome	Conjunctival hyperemia, Conjunctivitis, Recurrent aphthous stomatitis, Maculopapular exanthema	OMIM:191900
Immunodeficiency 76	Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent bronchiolitis	OMIM:619164
Senior-Loken Syndrome	Premature ovarian insufficiency, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chr...	ORPHA:3156
Ichthyosis, Congenital, Autosomal Recessive 4B	Failure to thrive, Ectropion	OMIM:242500
Autosomal Dominant Spastic Paraplegia Type 29	Abnormal rectum morphology, Hyperbilirubinemia, Hiatus hernia	ORPHA:101009
Gastrocutaneous Syndrome	Upslanted palpebral fissure, Synophrys, Peptic ulcer, Hiatus hernia	ORPHA:2069
Familial Cold Urticaria	Arthritis, Conjunctivitis, Hyperhidrosis	ORPHA:47045
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage,...	ORPHA:99931
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Arthritis, Conjunctivitis, Uveitis	OMIM:120100
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Esophageal atresia, Axillary pterygium, Congenital pyloric atresia, Ectropion	OMIM:226730
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Gastroesophageal reflux, Pulmonary fibrosis, Cirrhosis, Reticular pattern on pulmonary HRCT, Usua...	OMIM:614742
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Episodic vomiting, Hepatocellular necrosis, Periportal f...	OMIM:201475
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous ...	OMIM:175500
Uveal Melanoma	Iris melanoma, Choroidal melanoma, Inferior lens subluxation, Inflammatory abnormality of the eye...	ORPHA:39044
Agammaglobulinemia 6, Autosomal Recessive	Recurrent otitis media, Recurrent pneumonia, Conjunctivitis, Chronic sinusitis	OMIM:612692
Juvenile Xanthogranuloma	Hyphema, Uveitis, Asymmetry of iris pigmentation, Myeloproliferative disorder, Iritis, Blepharitis	ORPHA:158000
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis...	OMIM:607594
Wiedemann-Steiner Syndrome	Brow ptosis, Epicanthus, Thick eyebrow, Highly arched eyebrow, Blepharophimosis, Cryptorchidism, ...	OMIM:605130
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Weight loss, Reticulonodular pa...	ORPHA:133
Linear Iga Dermatosis	Pruritus, Inflammation of the large intestine	ORPHA:46488
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Hepatic fibrosis, Decreased liver function	ORPHA:306550
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Pneumonia, Eczema, Splenomegaly, Diarr...	ORPHA:436159
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Skin rash, Diffuse alveolar hemorrhage, Feeding difficulties in infancy, Splenom...	OMIM:616050
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal...	ORPHA:84081
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Patent ductus arteriosus, Abnormal intestine morphology, Intestinal malrotation	ORPHA:2978
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lobation, Cholest...	OMIM:615415
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasis, Ulcerative colitis, Colitis, Pu...	OMIM:618394
Blepharocheilodontic Syndrome 1	Lagophthalmos, Ectropion of lower eyelids, Euryblepharon, Distichiasis, Anal atresia	OMIM:119580
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Abnormal vascular morphology, Diarrhea, Abnormal gastroin...	ORPHA:70475
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Hyphema, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anteri...	OMIM:221900
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Cataract, Esophageal stricture, Corneal scarring, Squamous ce...	OMIM:226600
Isolated Congenital Alacrima	Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ...	ORPHA:91416
Surfactant Metabolism Dysfunction, Pulmonary, 3	Failure to thrive, Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on p...	OMIM:610921
Dubin-Johnson Syndrome	Hepatomegaly, Abdominal pain, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnorma...	ORPHA:234
Pulmonary Hemosiderosis	Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis	OMIM:178550
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Porphyrinuria	OMIM:176090
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Vasculitis, Uveitis, Arthritis, Conjunctivitis, Recurrent ...	ORPHA:575
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Colitis, Minimal change glomerulonephritis	OMIM:617006
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Ptosis, Hepatomegaly, Micronodular cirrhosis, Obesity, Cardiomyopa...	ORPHA:98907
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Recurrent skin infections, Anal fissure, Glomerulonephritis, Corneal erosion, Malnutrition, Gastr...	ORPHA:79408
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Lymphoproliferative disorder, Pneumonia, Erythema nodosum, R...	OMIM:614700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph...	OMIM:613101
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Entropion, Dys...	ORPHA:36426
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor	OMIM:243320
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Gastrocutaneous Syndrome	Peptic ulcer, Hiatus hernia	OMIM:137270
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Epicanthus, Ectropion, Almond-shaped palpebral fissure, Exocrine pancreatic insuffi...	OMIM:618268
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:615486
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption,...	ORPHA:77297
Pulmonary Blastoma	Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss	ORPHA:64741
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Premature ovarian insufficiency, Streak ovary, Duplicated lacrimal punctum, Highly arched eyebrow...	ORPHA:572333
Congenital Tufting Enteropathy	Villous atrophy, Cataract, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality...	ORPHA:92050
Mednik Syndrome	Jejunal atresia, Cholestasis, Growth delay, Hepatic fibrosis, Cirrhosis, Increased circulating ve...	OMIM:609313
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes...	OMIM:603041
Orofacial Cleft 15	Bilateral cleft palate, Epicanthus, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Ectropion o...	OMIM:616788
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno...	ORPHA:2494
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Cataract, Premature ovarian ins...	OMIM:240300
Shigellosis	Failure to thrive in infancy, Pneumonia, Intestinal perforation, Myocarditis, Peritonitis, Uveiti...	ORPHA:810
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
De Sanctis-Cacchione Syndrome	Entropion, Keratitis, Bilateral cryptorchidism, Telangiectasia, Melanoma, Conjunctivitis, Ectropion	OMIM:278800
Hereditary Acrokeratotic Poikiloderma	Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Eczema, Pustule, Xerostomi...	ORPHA:2907
Wiskott-Aldrich Syndrome	Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Neoplasm, Conjunctivitis...	ORPHA:906
Clouston Syndrome	Cataract, Sparse eyelashes, Sparse eyebrow, Conjunctivitis, Blepharitis	OMIM:129500
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Keratitis, Sparse eyebrow, Cor...	OMIM:148210
Sézary Syndrome	Hepatomegaly, Cutaneous T-cell lymphoma, Lymphoma, Neoplasm of the skin, Erythroderma, Ectropion	ORPHA:3162
Hepatoerythropoietic Porphyria	Abnormal bleeding, Recurrent bacterial skin infections, Abnormal circulating enzyme concentration...	ORPHA:95159
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Auriculocondylar Syndrome 3	Glossoptosis, Bifid uvula, Ectropion	OMIM:615706
Retinal Capillary Malformation	Retinal capillary hemangioma, Hyphema, Central fundal arteriolar microaneurysms, Vitreous hemorrhage	ORPHA:71213
Lassa Fever	Abnormal bleeding, Shock, Menometrorrhagia, Jaundice, Conjunctivitis, Dysphagia	ORPHA:99824
Cenani-Lenz Syndrome	Ptosis, Cataract, High, narrow palate, Hypothyroidism, Downslanted palpebral fissures, Ectropion	ORPHA:3258
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple...	ORPHA:30391
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Pulmonary fibrosis, Glycosuria, Emphy...	OMIM:618913
Coffin-Siris Syndrome 1	Recurrent respiratory infections, Thick eyebrow, Duodenal ulcer, Intestinal malrotation, Hypospad...	OMIM:135900
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Entropion, Sud...	ORPHA:537
Riboflavin Transporter Deficiency	Iris hypopigmentation, Cachexia, Hypogonadism, Dysphagia, Ptosis	ORPHA:97229
Adams-Oliver Syndrome 6	Splenomegaly, Esophageal varix, Hepatic fibrosis, Portal hypertension	OMIM:616589
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ...	OMIM:615888
Lichen Planus Pemphigoides	Conjunctivitis, Blepharitis	ORPHA:254478
Crouzon Syndrome	Conjunctivitis, Iris coloboma, Narrow palate, Ptosis	ORPHA:207
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Peritonitis, Colonic steno...	ORPHA:90038
Autoimmune Hypoparathyroidism	Prolonged QT interval, Cataract, Autoimmune hypoparathyroidism, Chronic mucocutaneous candidiasis...	ORPHA:36913
Immunodeficiency 70	Furuncle, Celiac disease, Colitis, Recurrent sinusitis, Achalasia	OMIM:618969
Fetal Gaucher Disease	Intracranial hemorrhage, Hepatomegaly, High palate, Ectropion	ORPHA:85212
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ...	OMIM:608710
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ...	ORPHA:44890
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatic fibrosis, Infertility, Oligomenorrhea	ORPHA:280356
Proteus Syndrome	Multiple lipomas, Lipoma, Limbal dermoid, Hemangioma, Downslanted palpebral fissures, Ptosis	OMIM:176920
Hirschsprung Disease	Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure...	ORPHA:388
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Weight loss, Arthritis...	OMIM:617321
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Recurrent respiratory infections, Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresi...	OMIM:243150
Retinoblastoma	Glioma, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Lymphoma, Hyphema, Leukocoria...	ORPHA:790
Kindler Epidermolysis Bullosa	Corneal opacity, Recurrent skin infections, Esophageal stricture, Abnormality of the anus, Cheili...	ORPHA:2908
Ring Chromosome 10 Syndrome	Downslanted palpebral fissures, Aganglionic megacolon, Cachexia	ORPHA:1438
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Malabsorption, Diarrhea, Weight loss, Chronic otitis...	ORPHA:33355
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal s...	ORPHA:2357
Lacrimoauriculodentodigital Syndrome	Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Hypoplasia of the l...	ORPHA:2363
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg...	ORPHA:411696
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Di...	ORPHA:652
Christianson Syndrome	Cachexia, Feeding difficulties in infancy, Gastroesophageal reflux, Dysphagia, Thick eyebrow	ORPHA:85278
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Intestinal obstruction, Lung abscess, Liver abscess, Abdominal pai...	ORPHA:67
Warburg-Cinotti Syndrome	Epicanthus, Symblepharon, Narrow palpebral fissure, Limbal stem cell deficiency, High palate, Dec...	OMIM:618175
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Epicanthus, Cryptorchidism, Rectal prolapse, Pulmonary lymphangiectasia, Narrow palate, Pleural e...	OMIM:235510
Alexander Disease Type I	Failure to thrive, Vomiting, Cachexia, Dysphagia	ORPHA:363717
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ...	OMIM:200995
Vitreoretinochoroidopathy	Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, Microcornea, Vitreous...	OMIM:193220
Ichthyosis With Confetti	Decreased body weight, Ectropion, Erythroderma	OMIM:609165
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Acne, Hepatosplenomegaly, Sterile arthritis, Arthritis, Colitis, Cystic acne	OMIM:604416
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Ectropion	OMIM:242510
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Gastritis, Splenomegaly, Xero...	ORPHA:809
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Hepatomegaly, Elevate...	ORPHA:131
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Conjunctivitis, Cholecyst...	ORPHA:99827
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Pulmonary cyst, Enlarged kidney, Large for gestational age	OMIM:618272
Reynolds Syndrome	Hepatomegaly, Skin rash, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice...	ORPHA:779
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep...	OMIM:619377
22Q11.2 Deletion Syndrome	Abnormal eyelid morphology, Anorectal anomaly, Gastroesophageal reflux, Chronic otitis media, Hyp...	ORPHA:567
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Carcinoid Syndrome	Elevated hepatic transaminase, Nausea and vomiting, Lack of bowel sounds, Hepatic necrosis, Episo...	ORPHA:100093
Dubowitz Syndrome	Anal stenosis, Epicanthus, Hypospadias, Eczema, Telecanthus, Malabsorption, Cataract, Cryptorchid...	ORPHA:235
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Anal fissure, Perianal abscess, Splenomegaly, Recurrent pneumonia, Ulcerative...	OMIM:618935
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Skin rash, Lymphoma, Uveitis, Arthritis, Conjunctivitis, Small vessel...	ORPHA:36412
Surfactant Metabolism Dysfunction, Pulmonary, 2	Failure to thrive, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Intralobular sep...	OMIM:610913
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Overweight, High palate, Pulmonary fibrosis, Micropenis, Decreased testicular size	ORPHA:457240
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ...	OMIM:618641
Heme Oxygenase 1 Deficiency	Hepatomegaly, Epistaxis, Elevated circulating aspartate aminotransferase concentration, Diffuse a...	OMIM:614034
Poikiloderma With Neutropenia	Skin rash, Sparse eyebrow, Recurrent pneumonia, Nasolacrimal duct obstruction, Telangiectasia, Co...	OMIM:604173
Transketolase Deficiency	Hepatomegaly, Cataract, Seborrheic dermatitis, Uveitis, Secondary amenorrhea, Conjunctivitis	ORPHA:488618
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated transferrin saturation, Incr...	ORPHA:79230
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Pulmonary fibrosis	OMIM:615704
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P...	ORPHA:731
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Vascular dilatation, Atelectasis, Rectal prolapse, Recurrent pneumonia, Pyloric...	OMIM:613177
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis	OMIM:615083
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma...	ORPHA:37042
Bartsocas-Papas Syndrome 1	Absent eyebrow, Ablepharon, Anal stenosis, Cicatricial lagophthalmos, Absent eyelashes, Bilateral...	OMIM:263650
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Pulmonary fibrosis, Cirrhosis	OMIM:614743
Lymphoid Interstitial Pneumonia	Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infection, Bronchiectasis, Weight loss,...	ORPHA:79128
Pterygium Of Conjunctiva And Cornea	Abnormal conjunctiva morphology, Pterygium	OMIM:178000
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis, Abnormality of the urinary system	OMIM:213010
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive	OMIM:612075
Ichthyosis, Congenital, Autosomal Recessive 4A	Hepatosplenomegaly, Ectropion	OMIM:601277
Limited Cutaneous Systemic Sclerosis	Gastroesophageal reflux, Pulmonary fibrosis, Dysphagia	ORPHA:220402
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Esophageal varix, Hepato...	ORPHA:264580
Diffuse Cutaneous Systemic Sclerosis	Dyspareunia, Renal insufficiency, Malabsorption, Xerostomia, Oliguria, Gastroesophageal reflux, P...	ORPHA:220393
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Cleft palat...	OMIM:607361
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co...	ORPHA:160148
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Hyperthyroidism, Band keratopathy, Primary adrenal insufficiency, Hepatitis, Chronic mu...	OMIM:269200
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Recurrent pneumonia, Vasculitis, Hematochezia, Subconjunctival hemorrhage, Inflammatio...	OMIM:617718
Immunodeficiency 37	Colitis, Infectious encephalitis	OMIM:616098
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Prognathism, Mandibular	Ectropion of lower eyelids	OMIM:176700
Erythermalgia, Primary	Keratoconjunctivitis sicca, Xerostomia, Palpitations, Hyperhidrosis	OMIM:133020
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Vasculitis, Arthritis, Keratoconjunct...	ORPHA:91138
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Aspergillosis	Pneumonia, Abnormality of the kidney, Hypersensitivity pneumonitis, Bronchiectasis, Hepatitis, Pu...	ORPHA:1163
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Hypohidrosis, Microcornea, Keratoconjunctivitis sicca	ORPHA:1806
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Cachexia, Malabsorption, Anore...	ORPHA:3452
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Telecanthus, Corneal opacity, Small for gestational ...	OMIM:301056
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ...	OMIM:276700
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple...	OMIM:216360
Immunodeficiency 14B, Autosomal Recessive	Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si...	OMIM:619281
Blue Rubber Bleb Nevus	Prolonged bleeding time, Skin rash, Intestinal bleeding, Gastrointestinal infarctions, Arterioven...	ORPHA:1059
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Anorexia, Lymphadenitis, Abnormality of the spleen,...	ORPHA:2552
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Esophageal stricture, Hepatic fibrosis, Pulmonary fibrosis, Failure to thrive...	OMIM:613989
Trichothiodystrophy	Congenital exfoliative erythroderma, Epicanthus, Eczema, High, narrow palate, Cryptorchidism, Dev...	ORPHA:33364
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta...	OMIM:619484
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Cachexia, Ileus, Constipation, Ptosis	ORPHA:52503
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Sparse eyebrow, Hypogonadism, Ectropion	ORPHA:2269
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Lagophthalmos, Nodular re...	ORPHA:404454
Ifap Syndrome 2	Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca	OMIM:619016
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Achalasia, Abnormality of the female gen...	ORPHA:1018
Cockayne Syndrome Type 2	Hepatomegaly, Cryptorchidism, Uveitis, Developmental cataract, Conjunctivitis, Male hypogonadism	ORPHA:90322
Riddle Syndrome	Pulmonary fibrosis	OMIM:611943
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Failure to thrive, Blepharitis	OMIM:614328
Mcdonough Syndrome	Cachexia, Cryptorchidism, Synophrys, Short palpebral fissure, Ptosis	ORPHA:2471
Ichthyosis, Congenital, Autosomal Recessive 9	Hypohidrosis, Ectropion, Erythroderma	OMIM:615023
Junctional Epidermolysis Bullosa With Pyloric Atresia	Recurrent skin infections, Urinary bladder inflammation, Congenital pyloric atresia, Intestinal a...	ORPHA:79403
Scedosporiosis	Pneumonia, Bronchitis, Abnormal renal morphology, Pleural empyema, Pulmonary fibrosis, Pleuritis,...	ORPHA:449280
Laurence-Moon Syndrome	Hypoplasia of penis, Renal insufficiency, Congenital hepatic fibrosis, Cryptorchidism, Obesity, D...	ORPHA:2377
Meckel Syndrome, Type 6	Absent gallbladder, Bilobed right lung, Cleft palate, Renal cyst, Horseshoe kidney, Cystic liver ...	OMIM:612284
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Cogan Syndrome	Episcleritis, Aortic regurgitation, Keratitis, Vasculitis, Uveitis, Large vessel vasculitis, Scle...	ORPHA:1467
Mannosidosis, Beta A, Lysosomal	Tortuosity of conjunctival vessels	OMIM:248510
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Arthritis, Panniculi...	OMIM:617591
Frontofacionasal Dysplasia	Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Cleft palate, M...	ORPHA:1791
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Cataract, Corneal erosion, Enterocolitis, Ulcerative colitis,...	OMIM:614878
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal pulmonary interstitial morphology, Weight los...	ORPHA:732
Bathing Suit Ichthyosis	Hypohidrosis, Ectropion, Erythroderma	ORPHA:100976
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron...	ORPHA:79126
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Recurrent respiratory infections, Skin rash, Abdominal pain, Perianal abscess,...	OMIM:301074
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea...	ORPHA:2137
Ichthyosis, Congenital, Autosomal Recessive 3	Anhidrosis, Hypohidrosis, Ectropion	OMIM:606545
Multicentric Reticulohistiocytosis	Arthritis, Cachexia	ORPHA:139436
Lamellar Ichthyosis	Chronic otitis media, Ectropion, Aplasia/Hypoplasia of the eyebrow, Erythroderma	ORPHA:313
Axial Mesodermal Dysplasia Spectrum	Abnormality of the spleen, Anorectal anomaly, Tracheoesophageal fistula, Aplasia/Hypoplasia of th...	ORPHA:1834
Jacobsen Syndrome	Epicanthus, Cataract, Ectropion, Eczema, Intestinal malrotation, Pyloric stenosis, Cryptorchidism...	ORPHA:2308
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pancreatic cys...	ORPHA:730
Relapsing Polychondritis	Episcleritis, Pericarditis, Cataract, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uve...	ORPHA:728
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Corneal opacity, Iris hypopigmentation, Cryptorchidism, Ocular albinism, Ectropion	ORPHA:2719
Immunodeficiency 58	Helicobacter pylori infection, Recurrent respiratory infections, Recurrent cutaneous abscess form...	OMIM:618131
Feingold Syndrome 2	Postnatal growth retardation, Short stature, Intestinal atresia	OMIM:614326
Diencephalic Syndrome	Long penis, Cachexia, Decreased body weight	ORPHA:1672
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Menometrorrhagia, Impaired thrombin-induced...	ORPHA:849
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Highly arched eyebrow, Cleft palate, Feeding difficulties, Anteriorly plac...	OMIM:239300
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated circulating aspartate aminotransferase concentration, Postnatal growth retardation, Intr...	OMIM:617093
Lowe-Kohn-Cohen Syndrome	Anorectal anomaly, Anal atresia	ORPHA:2408
Immunodeficiency 85 And Autoimmunity	Recurrent respiratory infections, Villous atrophy, Failure to thrive in infancy, Pulmonary fibrosis	OMIM:619510
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru...	OMIM:619644
Tuberculosis	Abnormal lung morphology, Weight loss	ORPHA:3389
Pleural Mesothelioma	Hepatomegaly, Abnormal pleura morphology, Abnormal lung morphology, Weight loss, Dysphagia, Pleur...	ORPHA:50251
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis, Dysphagia	ORPHA:254361
Immunodeficiency 47	Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegaly, Decreased circulating copper...	OMIM:300972
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Vitreous hemorrhage, Subcapsular cataract	OMIM:601813
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ...	OMIM:167730
Braddock Syndrome	Failure to thrive, Pulmonary fibrosis, Unilateral renal agenesis	ORPHA:52047
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Chronic kidney disease, Obesity, Cholestasis, Hepatic fibrosis, Nephr...	OMIM:615630
Idiopathic Bronchiectasis	Cachexia, Respiratory tract infection, Emphysema, Bronchiectasis, Acute infectious pneumonia, Rec...	ORPHA:60033
Moynahan Syndrome	Hypogonadism, Cachexia	ORPHA:2574
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Portal hypertension, Increased circulating IgA level, C...	ORPHA:186
Neuropathy, Congenital Hypomyelinating, 3	Epicanthus, Cachexia, Narrow palate, Gastroesophageal reflux, High palate, Ptosis	OMIM:618186
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach	OMIM:114500
Kabuki Syndrome 2	Epicanthus, Highly arched eyebrow, Cleft palate, Long eyelashes, Recurrent otitis media, Pulmonic...	OMIM:300867
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Growth delay, Decreased serum zin...	ORPHA:541423
Pachydermoperiostosis	Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Malabsorption, Sebo...	ORPHA:2796
Felty Syndrome	Hepatomegaly, Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly,...	ORPHA:47612
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti...	OMIM:307200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 5	Pulmonary fibrosis	OMIM:618674
Cdags Syndrome	Ptosis, Sparse eyelashes, Sparse eyebrow, Rectourethral fistula, Cleft palate, Rectovaginal fistu...	OMIM:603116
Infant Botulism	Mydriasis, Cardiac arrest, Xerostomia, Hypertension, Keratoconjunctivitis sicca, Hypotension, Dys...	ORPHA:178478
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Failure to thrive ...	ORPHA:79124
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, Developmental cataract, High pal...	OMIM:616809
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Rectal abscess, Recurrent sinusitis, Recurre...	OMIM:601495
Congenital Erythropoietic Porphyria	Abnormal bleeding, Recurrent bacterial skin infections, Increased stool urobilinogen concentratio...	ORPHA:79277
Burkitt Lymphoma	Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th...	ORPHA:543
Postaxial Acrofacial Dysostosis	Eyelid coloboma, Ectropion of lower eyelids, Downslanted palpebral fissures, Cleft palate	ORPHA:246
Antisynthetase Syndrome	Aortic regurgitation, Myositis, Skin rash, Telangiectasia of the skin, Myocarditis, Xerostomia, K...	ORPHA:81
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Decreased HDL cholesterol...	ORPHA:247585
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, C...	OMIM:618999
Niemann-Pick Disease, Type B	Splenomegaly, Hepatomegaly, Abnormal pulmonary interstitial morphology, Recurrent respiratory inf...	OMIM:607616
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Renal insufficiency, Hematochezia, Inflammation of the large intestine, ...	OMIM:203300
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul...	ORPHA:79240
Eales Disease	Peripheral retinal neovascularization, Anterior uveitis, Transient ischemic attack, Epistaxis, Ir...	ORPHA:40923
Tumoral Calcinosis, Normophosphatemic, Familial	Conjunctivitis	OMIM:610455
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Cataract, Cryptorchidism, Uveitis, Hypohidrosis, Hyp...	ORPHA:90321
Lacrimoauriculodentodigital Syndrome 2	Absent lacrimal punctum, Lacrimal duct atresia, Conjunctivitis, Lacrimal duct aplasia	OMIM:620192
46,Xx Gonadal Dysgenesis	Streak ovary, Premature ovarian insufficiency, Decreased fertility, Secondary amenorrhea, Primary...	ORPHA:243
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Elevated cir...	OMIM:251880
Benign Recurrent Intrahepatic Cholestasis	Nausea and vomiting, Elevated hepatic transaminase, Anorexia, Abdominal pain, Jaundice, Chronic d...	ORPHA:65682
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Platelet Glycoprotein Iv Deficiency	Prolonged bleeding time	OMIM:608404
Ichthyosis, Congenital, Autosomal Recessive 1	Ectropion, Erythroderma	OMIM:242300
X-Linked Intellectual Disability Due To Gria3 Mutations	Cryptorchidism, Narrow palate, Eversion of lateral third of lower eyelids, Slender build, Ptosis	ORPHA:364028
Marburg Hemorrhagic Fever	Odynophagia, Uveitis, Conjunctival hyperemia, Internal hemorrhage, Abnormal bleeding, Maculopapul...	ORPHA:99826
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron...	ORPHA:911
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Agel Amyloidosis	Tongue atrophy, Cataract, Bilateral ptosis, Xerostomia, Bruising susceptibility, Cardiomyopathy, ...	ORPHA:85448
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Absent eyelashes, Lacrimal duct atresia, Ankyloblepharon, Cleft palate, Conjunc...	OMIM:106260
Leprechaunism	Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Abdominal distention, Rectal pr...	ORPHA:508
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, Jaundice, Hepatitis, ...	ORPHA:509
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Cleft palate, Hyperechogenic kidneys	OMIM:613885
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy...	OMIM:601346
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Gastrointestinal dysmotility, Abnormal pulmonary ...	ORPHA:330001
Transaldolase Deficiency	Hepatomegaly, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly...	OMIM:606003
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Epicanthus, Splenomegaly, Chronic diarrhea, Esophage...	OMIM:614576
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Crouzon Syndrome	Keratitis, High palate, Conjunctivitis, Shallow orbits, Dysgerminoma	OMIM:123500
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Cataract, Small for gestational age, Malabsorption, Telangiectasia, Micro...	OMIM:601675
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Epicanthus, Failure to thrive in infancy, Cachexia, Feeding difficulties, Constipation, Downslant...	OMIM:616801
Ichthyosis, Congenital, Autosomal Recessive 6	Hypohidrosis, Ectropion, Erythroderma	OMIM:612281
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Corneal scar...	OMIM:301220
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Cholesteryl Ester Storage Disease	Nausea and vomiting, Hepatomegaly, Splenomegaly, Diarrhea, Jaundice, Esophageal varix, Cirrhosis,...	ORPHA:75234
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Allergic rhinitis, Malabsorption, Abdominal pain, Diar...	ORPHA:2070
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Ankyloblepharon, Bilateral cleft lip and palate, Poplitea...	OMIM:619339
Fanconi Anemia, Complementation Group O	Cryptorchidism, Rectal atresia, External genital hypoplasia, Anal atresia	OMIM:613390
Bardet-Biedl Syndrome	Multicystic kidney dysplasia, Hypoplasia of penis, Cryptorchidism, Obesity, Nephrotic syndrome, H...	ORPHA:110
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien...	ORPHA:90291
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Skin rash, Poor appetite, Osteomyelitis, Pruritus, Vasculitis, Art...	ORPHA:324964
Interstitial Pneumonitis, Desquamative, Familial	Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recurrent upper respirator...	OMIM:263000
Avian Influenza	Elevated hepatic transaminase, Pneumonia, Congestive heart failure, Hepatitis, Conjunctivitis, In...	ORPHA:454836
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Pulmonary hypoplasia, Enlarged k...	OMIM:314390
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT	ORPHA:60026
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Pericarditis, Myositis, Skin rash, Intestinal obstruction, Orchitis, Peritonitis, Vasc...	ORPHA:32960
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Holocarboxylase Synthetase Deficiency	Perioral eczema, Weight loss, Eczema, Keratoconjunctivitis	ORPHA:79242
Lujo Hemorrhagic Fever	Shock, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, ...	ORPHA:319213
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Pustule, Cheilitis, ...	ORPHA:293173
Asbestos Intoxication	Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ...	ORPHA:2302
Barber-Say Syndrome	Ablepharon, Telecanthus, Sparse or absent eyelashes, Failure to thrive, Aplasia/Hypoplasia of the...	ORPHA:1231
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Mesangial hypercellularity, Crescentic glomerulonephritis, Abnormal pulmonary interstitial morpho...	OMIM:616414
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:617068
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnor...	ORPHA:2538
Lysosomal Acid Lipase Deficiency	Microvesicular hepatic steatosis, Vomiting, Hepatic fibrosis, Abdominal pain, Hepatosplenomegaly,...	ORPHA:275761
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Achalasia, Xerostomia, Rheumatoid arthritis	OMIM:200400
Bleeding Disorder, Platelet-Type, 11	Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Impaired ristocetin-indu...	OMIM:614201
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Vitreous hemorrhage, Uveitis, Posterior retinal neovascula...	OMIM:193235
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e...	ORPHA:2399
Galactose Epimerase Deficiency	Nausea and vomiting, Hepatomegaly, Cataract, Splenomegaly, Jaundice, Feeding difficulties, Weight...	ORPHA:79238
Diffuse Alveolar Hemorrhage	Proteinuria, Weight loss, Hematuria, Pulmonary fibrosis, Irregular septal thickening on pulmonary...	ORPHA:90060
Familial Pancreatic Carcinoma	Nausea and vomiting, Elevated hepatic transaminase, Pancreatic adenocarcinoma, Intestinal pseudo-...	ORPHA:1333
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis	OMIM:270150
Ichthyosis, Congenital, Autosomal Recessive 2	Anhidrosis, Hypohidrosis, Ectropion	OMIM:242100
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Sparse eyelashes, Decreased fertility, Microcornea, Keratoconjunctivitis sicca	OMIM:234050
Hereditary Mixed Polyposis Syndrome	Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Hema...	ORPHA:157794
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:256810
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Epicanthus, Telecanthus, Aganglionic megacolon, Hypospadias, Blepharop...	ORPHA:3339
Exudative Vitreoretinopathy 1	Peripheral retinal avascularization, Vitreous hemorrhage, Subcapsular cataract, Retinal neovascul...	OMIM:133780
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reye syndrome-like episodes, Fee...	ORPHA:26791
Anaplastic Thyroid Carcinoma	Laryngotracheal stenosis, Tracheoesophageal fistula, Weight loss, Neoplasm of the lung, Dysphagia	ORPHA:142
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo...	ORPHA:73263
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Feeding difficulties in infancy, Hepatic steatosis, Hepatic necrosis	OMIM:231530
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia, Feeding difficulties	ORPHA:157973
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Congenital Enterocyte Heparan Sulfate Deficiency	Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy	ORPHA:103910
Primary Sclerosing Cholangitis	Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarcinoma of the large...	ORPHA:171
Hypocalcemia, Autosomal Dominant 2	Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration	OMIM:221400
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Vomiting, Pulmonary hypoplasia, Hepatic periportal necrosis, Pachygyria, ...	OMIM:231680
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Pterygium, Antecubital	Antecubital pterygium	OMIM:178200
Classical Ehlers-Danlos Syndrome	Prolonged bleeding time, Epicanthus, Hiatus hernia, Dermatochalasis, Rectal prolapse, Osteoarthri...	ORPHA:287
Mitchell-Riley Syndrome	Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Biliary atr...	OMIM:615710
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Ectropion of lower ey...	OMIM:615873
Laryngeal Neuroendocrine Tumor	Weight loss, Anorexia, Oral-pharyngeal dysphagia	ORPHA:100083
Silver-Russell Syndrome	Abnormality of male external genitalia, Failure to thrive in infancy, Hypospadias, Cachexia, Prec...	ORPHA:813
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Premature ovarian insufficiency, Pr...	OMIM:212065
Matthew-Wood Syndrome	Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, ...	ORPHA:2470
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Renal dys...	OMIM:608836
Postaxial Acrofacial Dysostosis	Pyloric stenosis, Midgut malrotation, Cryptorchidism, Cleft palate, Eyelid coloboma, Downslanted ...	OMIM:263750
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ...	ORPHA:98897
Cat Eye Syndrome	Anal stenosis, Epicanthus, Intestinal malrotation, Rectal fistula, Rectal atresia, Biliary atresi...	OMIM:115470
Trichinellosis	Skin rash, Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Conjunctivitis, Dysp...	ORPHA:863
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Pruritus, Granulomatous cholangitis, Ulcerative colitis, Cholestas...	ORPHA:562639
Glanzmann Thrombasthenia 1	Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ...	OMIM:273800
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Peripheral retinal avascularization, Cataract, Vitreous hemorrhage, Retin...	ORPHA:891
Anus, Imperforate	Ectopic anus, Anal atresia	OMIM:301800
Takenouchi-Kosaki Syndrome	Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Synophrys, Upslanted palpebral fissure, Pu...	OMIM:616737
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Nausea and vomiting, Pancreatic adenocarcinoma, Neoplasm of the panc...	ORPHA:440437
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Hiatus hernia, Panc...	OMIM:610199
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent sinusitis, Recurrent aphthous s...	OMIM:613960
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss, Arthritis, I...	ORPHA:29207
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Poor appetite, Abnormal eyelid morphology, Chronic diarrhea, Ovarian...	ORPHA:2221
Cirrhotic Cardiomyopathy	Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Hepatomegaly, Left ve...	ORPHA:57777
Pityriasis Rubra Pilaris	Ectropion	OMIM:173200
Bone Marrow Failure Syndrome 5	Oral leukoplakia, Hypogonadism, Testicular atrophy, Pulmonary fibrosis	OMIM:618165
Oculoauriculofrontonasal Syndrome	Limbal dermoid, Pericallosal lipoma, Upper eyelid coloboma, Cleft palate	ORPHA:398156
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ...	OMIM:613027
Dyskeratosis Congenita, Autosomal Recessive 1	Oral leukoplakia, Esophageal stricture, Hepatic fibrosis, Pulmonary fibrosis	OMIM:224230
Immunodeficiency 97 With Autoinflammation	Recurrent sinopulmonary infections, Recurrent skin infections, Eczema, Abdominal pain, Splenomega...	OMIM:619802
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Epicanthus, Eczema, Rectal prolapse, Obesity, Feeding difficulties, Astigmatism, Gastroesophageal...	OMIM:617157
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Feeding difficulties in infancy, Diarrhea, ...	ORPHA:71212
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Renal insufficiency, Recurrent u...	OMIM:619487
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Respiratory tract infecti...	ORPHA:2686
X-Linked Intellectual Disability, Sutherland-Haan Type	Small for gestational age, Upslanted palpebral fissure, Decreased body weight, Decreased testicul...	ORPHA:93950
Sapho Syndrome	Psoriasiform dermatitis, Acne, Skin rash, Recurrent skin infections, Malabsorption, Pustule, Abdo...	ORPHA:793
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Cleft palate, Horseshoe kidney, Abnormal liver lobulation,...	OMIM:608022
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Epicanthus, Cachexia, Synophrys, Obesity, High palate, Hypogonadism, Blephar...	ORPHA:85293
Kabuki Syndrome	Ptosis, Highly arched eyebrow, Cryptorchidism, Obesity, Cleft palate, Microcornea, Long eyelashes...	ORPHA:2322
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Feeding difficulties in infancy, Chronic diarrhea, Chronic mucocutaneous candidiasis, Inf...	ORPHA:98813
Lynch Syndrome	Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Pancreatic adenocarcinoma...	ORPHA:144
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis	ORPHA:1067
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Recurrent skin infections, Eczema, Aganglionic megacolon, Keratitis, Absent eyela...	OMIM:308205
Farber Disease	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Failure to ...	ORPHA:333
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Calcium nephrolithiasis, Bronchitis, Respiratory tract infection, Pleural thickenin...	ORPHA:60025
Esophageal Atresia	Subglottic stenosis, Bronchitis, Feeding difficulties in infancy, Gastrointestinal dysmotility, A...	ORPHA:1199
Congenital Contractural Arachnodactyly	Intestinal malrotation, Ectopia lentis, Tracheoesophageal fistula, High palate, Slender build, Du...	ORPHA:115
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Recurrent respiratory infections, Cataract, Hypospadias, Cachexia, Cryptorchidism,...	ORPHA:217346
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Colitis	OMIM:615190
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhag...	OMIM:175780
Mismatch Repair Cancer Syndrome 3	Glioblastoma multiforme, Astrocytoma, Lymphoma, T-cell lymphoma, Neoplasm of the rectum, Colon ca...	OMIM:619097
Hemorrhagic Fever-Renal Syndrome	Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis, Hyperh...	ORPHA:340
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Short stature, Postnatal growth retardation, Celiac disease, Increased circulating IgE level, Del...	OMIM:618985
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Recurrent respiratory infections, Proteinuria, Splenomegaly, Recurrent bronchopulmo...	OMIM:617303
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Decreased testicular size, Oropharyngeal squamous cell carcinoma, Catarac...	OMIM:305000
Tenorio Syndrome	Telecanthus, Raynaud phenomenon, Recurrent pneumonia, Macroglossia, Keratoconjunctivitis sicca, S...	OMIM:616260
Malignant Peritoneal Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss	ORPHA:168811
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cachexia, Diarrhea, Vomiting, Decreased liver functi...	ORPHA:42
Tangier Disease	Hepatosplenomegaly, Corneal opacity, Ectropion	ORPHA:31150
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hepatomegaly, Peptic ulcer, Abdominal pain, Splenomegaly, Diarrhea, Weight loss, Nausea	ORPHA:98849
Nocardiosis	Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, Dacryocystitis, ...	ORPHA:31204
Coffin-Lowry Syndrome	Telecanthus, Highly arched eyebrow, Rectal prolapse, Narrow palate, High palate, Decreased body w...	OMIM:303600
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis, Decrea...	OMIM:253260
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, Pulmon...	OMIM:618986
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Neph...	OMIM:232220
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte...	ORPHA:247798
Thymoma	Myositis, Glomerulonephritis, Ulcerative colitis, Weight loss, Neoplasm of the lung, Neoplasia of...	ORPHA:99867
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Absent eyebrow, Corneal opacity, Eczema, Abnormal nasolacrimal system morphology, A...	ORPHA:2273
Hypocalciuric Hypercalcemia, Familial, Type Ii	Pancreatitis, Peptic ulcer	OMIM:145981
Paroxysmal Hemicrania	Palpebral edema, Hypertension, Rhinitis, Conjunctival hyperemia, Ptosis	ORPHA:157835
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Short uvula, Renal hypoplasia, Cleft palate, Renal cyst, High palate, Hepatic fibros...	OMIM:614091
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Periorbital dermoid cyst, Conjunctivitis, Lacrimal duct stenosis	OMIM:615560
Thrombocytopenia, Paris-Trousseau Type	Pyloric stenosis, Prolonged bleeding time, Ptosis	OMIM:188025
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Intralobular septal thickening, Elevated bronchoalveolar lava...	OMIM:619611
Trichohepatoenteric Syndrome 1	Hepatomegaly, Villous atrophy, Failure to thrive, Small for gestational age, Abnormality of the p...	OMIM:222470
Joubert Syndrome 9	Hepatic fibrosis, Stage 5 chronic kidney disease	OMIM:612285
Lichen Planopilaris	Neoplasm of the oral cavity, Pterygium, Abnormal intestine morphology, Hepatitis	ORPHA:525
Periventricular Nodular Heterotopia	Periventricular heterotopia, Pyloric stenosis, Patent ductus arteriosus, Gastroesophageal reflux,...	ORPHA:98892
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Spinocerebellar Ataxia, Autosomal Recessive 10	Tortuosity of conjunctival vessels	OMIM:613728
Polymerase Proofreading-Related Adenomatous Polyposis	Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th...	ORPHA:447877
Trisomy 18	Epicanthus, Cataract, Cachexia, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft palate, ...	ORPHA:3380
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Prolonged bleeding time, Splenomegaly, Impaired ADP-induced platelet aggregation, R...	OMIM:608233
Syndromic Recessive X-Linked Ichthyosis	Lissencephaly, Abnormal stomach morphology	ORPHA:281090
Dyskeratosis Congenita, Autosomal Dominant 1	Hepatic necrosis, Interstitial pneumonitis, Pulmonary fibrosis, Cirrhosis, Oral leukoplakia	OMIM:127550
Al Amyloidosis	Abnormality of the gastrointestinal tract, Hepatomegaly, Gastrointestinal hemorrhage, Renal insuf...	ORPHA:85443
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Skin rash, Venous insufficiency, Abnormality of the sp...	ORPHA:33276
Mungan Syndrome	Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Abdominal pain,...	OMIM:611376
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Intestinal malrotation, Duodenal stenosis	ORPHA:1759
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o...	ORPHA:117
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Failure to thrive, Psoriasiform dermatitis, Blepharitis, Developmental cataract	OMIM:616834
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, Colitis,...	ORPHA:309031
Atelis Syndrome 2	Epicanthus, Developmental cataract, Supravalvar pulmonary stenosis, Vitreous hemorrhage, High pal...	OMIM:620185
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Esophageal varix, Hepatosplenom...	ORPHA:367
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Cataract, Abdominal pain, I...	ORPHA:679
Porphyria, Congenital Erythropoietic	Absent eyebrow, Hepatomegaly, Jaundice, Loss of eyelashes, Corneal scarring, Increased fecal copr...	OMIM:263700
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma, Xerostomia, Abnormality of the orbital region, Hypohidrosis, Keratocon...	ORPHA:43393
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Cryptorchidism, Emphysema, Pulmonary fibrosis, Portal hypertension	OMIM:620365
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Failure to thrive, Proteinuria, Irregular menstruation, Hepatocellular adenoma, Ent...	ORPHA:79259
Kimura Disease	Abnormal salivary gland morphology, Increased circulating IgE level, Lymphadenopathy, Follicular ...	ORPHA:482
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Hepatomegaly, Failure to thrive in infancy, Pulmonary fibrosis	OMIM:612852
Hermansky-Pudlak Syndrome 4	Menorrhagia, Pulmonary fibrosis	OMIM:614073
Kawasaki Disease	Pericarditis, Skin rash, Myocarditis, Congestive heart failure, Vasculitis, Jaundice, Hepatitis, ...	ORPHA:2331
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Sterile pyuria, Tubulointer...	ORPHA:449395
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Eczema, Xerostomia, Hypohidrosis, Keratoconjunctivitis sicca, Failure to thrive, Infla...	ORPHA:238468
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Celiac disease, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infectio...	OMIM:615952
Leigh Syndrome	Hepatocellular necrosis	OMIM:256000
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash,...	ORPHA:95455
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Abnormal circulating enzyme concentration or activity, Cataract, Tortuosity of conjunctival vesse...	ORPHA:284289
Agammaglobulinemia, X-Linked	Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ...	OMIM:300755
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy	ORPHA:66661
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Anal stenosis, Recurrent respiratory infections, Cachexia, Ab...	ORPHA:647
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Diarrhea, Recurr...	OMIM:616100
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Conjunctival hamartoma, Erythroderma	ORPHA:312
H Syndrome	Abnormality of the kidney, Malabsorption, Recurrent pharyngitis, Bronchiectasis, Hepatosplenomega...	ORPHA:168569
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p...	OMIM:610978
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Ja...	ORPHA:540
Parathyroid Carcinoma	Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Weight loss, E...	ORPHA:143
Non-Syndromic Posterior Hypospadias	Bifid scrotum, Small for gestational age, Esophageal atresia, Cryptorchidism, Ventral shortening ...	ORPHA:95706
Erdheim-Chester Disease	Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Retroperitoneal fibrosis, Abnormal p...	ORPHA:35687
Glycogen Storage Disease Iv	Portal hypertension, Esophageal varix, Hepatosplenomegaly, Cirrhosis, Hepatic failure, Failure to...	OMIM:232500
Williams Syndrome	Hypoplasia of penis, Rectal prolapse, Gastroesophageal reflux, Chronic otitis media, Megalocornea...	ORPHA:904
Tetraamelia-Multiple Malformations Syndrome	Cataract, Cryptorchidism, Abnormal lung lobation, Aplasia/Hypoplasia of the lungs, Microcornea, T...	ORPHA:3301
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Hypergonadotropic hypogonadism, Celiac disease, Iridocyclitis, Xerostomia, He...	ORPHA:227990
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate	OMIM:137215
Bleeding Disorder, Platelet-Type, 14	Prolonged bleeding time	OMIM:614158
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s...	OMIM:300048
Platelet Disorder, Undefined	Prolonged bleeding time, Impaired platelet aggregation	OMIM:173420
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Anorexia, Weight loss	ORPHA:2023
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal ...	OMIM:236700
Radial Heads, Posterior Dislocation Of	Antecubital pterygium	OMIM:179200
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Abdominal pain, Abdominal distenti...	ORPHA:90003
Refractory Celiac Disease	Elevated hepatic transaminase, Villous atrophy, Inflammatory abnormality of the skin, Malabsorpti...	ORPHA:398063
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain	OMIM:619182
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Celiac disease...	ORPHA:227982
Syndromic Diarrhea	Hepatomegaly, Villous atrophy, Gastritis, Small for gestational age, Splenomegaly, Renal hypoplas...	ORPHA:84064
Acute Liver Failure	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Skin rash, Jaundice, Diarrhea, Hepati...	ORPHA:90062
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Recurrent respiratory infections, Cachexia	ORPHA:1389
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Increased circula...	OMIM:602450
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Cryptorchidism, Hydrometrocolpos, Glandular hypospadias, Cleft palate, Uro...	ORPHA:2473
Congenital Tracheal Stenosis	Meckel diverticulum, Abnormal stomach morphology, Ascending aorta hypoplasia, Abnormal lung morph...	ORPHA:141127
Aredyld Syndrome	Hepatomegaly, Cachexia, Splenomegaly, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow	ORPHA:1133
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Cryptorchidism, Abdominal distention, Splenomegaly, Pulmonary lymphangiectasia, Pan...	ORPHA:1655
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Posterior embryotoxon, Hypospadias, Corneal opacity, Sclerocornea, Abn...	ORPHA:2556
Focal Facial Dermal Dysplasia Type Ii	Sparse eyebrow, Distichiasis, Ectropion of lower eyelids, Trichiasis	ORPHA:398173
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Blepharitis	OMIM:602400
Dominant Beta-Thalassemia	Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Hepatosplenomegaly, Growth delay...	ORPHA:231226
Noonan Syndrome 7	Epicanthus, Large for gestational age, Feeding difficulties in infancy, Nasogastric tube feeding ...	OMIM:613706
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Peptic ulcer, Diarrhea, Insulinoma, Zollinger-Ellison syndrome, Es...	OMIM:131100
Corneal Dystrophy, Reis-Bucklers Type	Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea...	OMIM:608470
Anus, Imperforate	Anal atresia	OMIM:207500
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Metrorrhagia, Epistaxis, Hepatosplenomegaly, Subconjuncti...	ORPHA:464329
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Cachexia, Abnormal large intestine morphology, Narrow palate, Hamartomatous...	ORPHA:109
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Pyoderma Gangrenosum	Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Myositis	ORPHA:48104
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure...	ORPHA:371364
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Eczema, Absent eyelashes, Cleft palate, Conjunctival hyperemia	ORPHA:2890
Niemann-Pick Disease, Type C2	Hepatomegaly, Splenomegaly, Jaundice, Dysphagia, Pulmonary fibrosis, Prolonged neonatal jaundice	OMIM:607625
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Pulmonary fibrosis	OMIM:611926
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomer...	OMIM:232200
Ornithine Transcarbamylase Deficiency	Splenomegaly, Pyloric stenosis, Hepatic failure	ORPHA:664
Limb-Mammary Syndrome	Absent lacrimal punctum, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Sparse eyebr...	ORPHA:69085
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Telecanthus, Small for gestational age, Septate vagina, Bicornuate uterus, ...	OMIM:300707
Chronic Granulomatous Disease	Recurrent respiratory infections, Hepatomegaly, Liver abscess, Sinusitis, Eczema, Malabsorption, ...	ORPHA:379
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis	OMIM:615947
Atelosteogenesis Type I	Laryngeal stenosis, Telecanthus, Malrotation of colon, Laryngotracheal stenosis, Cleft palate, Pu...	ORPHA:1190
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hor...	ORPHA:79444
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs...	OMIM:600740
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Menometrorrhagia, Malabsorption, Weight loss, P...	ORPHA:79430
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Intestinal obstruction, Recurrent ...	ORPHA:900
Duplication Of Urethra	Bifid scrotum, Clitoral hypertrophy, Hypospadias, Septate vagina, Rectourethral fistula, Epispadi...	ORPHA:237
Bartsocas-Papas Syndrome	Corneal opacity, Ankyloblepharon, Cleft palate, Popliteal pterygium, Eyelid coloboma, Sparse or a...	ORPHA:1234
Vacterl/Vater Association	Bifid scrotum, Hypoplasia of penis, Hypospadias, Tracheal stenosis, Cryptorchidism, Abnormality o...	ORPHA:887
Prune Belly Syndrome	Recurrent respiratory infections, Intestinal malrotation, Cryptorchidism, Aplasia/Hypoplasia of t...	ORPHA:2970
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria,...	OMIM:243910
Sunct Syndrome	Palpebral edema, Episodic hyperhidrosis, Hyperhidrosis, Conjunctival hyperemia, Ptosis	ORPHA:57145
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheumatoid arthritis, F...	ORPHA:85410
Nephroblastoma	Abdominal pain, Weight loss, Neoplasm of the lung, Neoplasm of the liver, Aniridia	ORPHA:654
Abetalipoproteinemia	Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Congestive hea...	ORPHA:14
Pseudohypoparathyroidism Type 1B	Prolonged QT interval, Cataract, Conjunctivitis, Decreased response to growth hormone stimulation...	ORPHA:94089
Donohue Syndrome	Postnatal growth retardation, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyperplasia, I...	OMIM:246200
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Esopha...	ORPHA:3348
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Weight loss, Honeycomb...	ORPHA:79127
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Pericarditis, Abdominal pain, Abnormal lung morphology...	ORPHA:767
Typhoid	Splenomegaly, Hepatomegaly, Gastrointestinal hemorrhage, Abnormal pulmonary interstitial morphology	ORPHA:99745
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Oral leukoplakia, Pulmonary fibrosis	OMIM:619767
Dyskeratosis Congenita, Autosomal Recessive 8	Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture	OMIM:620133
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis, Projectile vomiting	OMIM:179010
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Splenomegaly, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypercalc...	OMIM:181000
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Nasolacrimal duct obstruction, Anteriorly placed anus, Eyelid coloboma, Cryptophth...	OMIM:248450
Sepsis In Premature Infants	Hepatomegaly, Small for gestational age, Abdominal distention, Gastrointestinal dysmotility, Diar...	ORPHA:90051
Retinoschisis 1, X-Linked, Juvenile	Vitreous hemorrhage	OMIM:312700
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Psoriasiform dermatitis, Intestinal malrotation, Jejunoileal ulceration, Abdomina...	ORPHA:436252
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Epicanthus, Tricuspid regurgitation, Telecanthus, Tachycardia, Congestive heart failure, Hepatosp...	ORPHA:505248
Encephalocraniocutaneous Lipomatosis	Astrocytoma, Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Eyelid coloboma, Lipoma, Limba...	OMIM:613001
Intrinsic Factor Deficiency	Absence of intrinsic factor	OMIM:261000
Esophagitis, Eosinophilic, 2	Failure to thrive, Vomiting, Esophagitis, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Failure to thrive, Vomiting, Esophagitis, Dysphagia	OMIM:610247
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun...	OMIM:618052
Hereditary Amyloidosis With Primary Renal Involvement	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, P...	ORPHA:85450
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, ...	ORPHA:79303
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Vaginal neoplasm, Weight loss, Neoplasm of the lung, Neoplasm of ...	ORPHA:2126
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula...	OMIM:619708
Listeriosis	Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Pustule, Myocarditis, Peritonitis, Congest...	ORPHA:533
Absent Radius-Anogenital Anomalies Syndrome	Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula	ORPHA:3016
Beta-Thalassemia Major	Hepatomegaly, Hepatocellular carcinoma, Hypersplenism, Splenomegaly, Jaundice, Hepatosplenomegaly...	ORPHA:231214
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Ptosis	ORPHA:1933
Proteasome-Associated Autoinflammatory Syndrome 1	Episcleritis, Hepatomegaly, Elevated hepatic transaminase, Erythema nodosum, Congestive heart fai...	OMIM:256040
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Short stature, Pancreatic fibrosis, Postnatal growth retardation, Steatorrhea, Hepa...	OMIM:616263
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Aganglionic megacolon, Anal atresia	OMIM:235760
Idiopathic Hypereosinophilic Syndrome	Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Abdominal pain, Chronic diarrhea...	ORPHA:3260
Currarino Syndrome	Anal stenosis, Septate vagina, Perianal abscess, Gastrointestinal obstruction, Abdominal distenti...	OMIM:176450
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery, Duodenal atresia	ORPHA:1203
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Abnormal lung lobation, Pulmonary hypoplasia, Polycystic kidney dysplasia	OMIM:263210
Pseudohypoparathyroidism Type 1A	Prolonged QT interval, Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hor...	ORPHA:79443
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Cryptorchidism, Urethral stenosis, Pulmonary fibrosis, Oral leukoplakia	OMIM:613990
Flynn-Aird Syndrome	Cataract, Cachexia	ORPHA:2047
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Chronic Bilirubin Encephalopathy	Conjunctival icterus, Abnormal conjunctiva morphology, Prolonged neonatal jaundice	ORPHA:529808
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Conjunctival icterus, Jaundice, Hepatitis, Cholelithiasis	OMIM:194380
Acute Bilirubin Encephalopathy	Conjunctival icterus, Abnormal conjunctiva morphology, Prolonged neonatal jaundice	ORPHA:529799
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss	ORPHA:99978
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Maculopapular exanthema, Anorexia, Malabsorption, Abdominal pain, Po...	ORPHA:98850
Williams-Beuren Syndrome	Colonic diverticula, Medial flaring of the eyebrow, Epicanthus, Failure to thrive in infancy, Por...	OMIM:194050
Brain-Lung-Thyroid Syndrome	Recurrent respiratory infections, Hypospadias, Recurrent pneumonia, Megacystis, Abnormal pulmonar...	ORPHA:209905
Rett Syndrome	Constipation, Gastroesophageal reflux, Cachexia	OMIM:312750
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Renal insufficiency, Polycystic liver disease, Pancreatic fibro...	OMIM:208500
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De...	ORPHA:48818
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Wiedemann-Rautenstrauch Syndrome	Absent eyebrow, Cataract, Entropion, Sparse eyelashes, Pneumonia, Small for gestational age, Abse...	OMIM:264090
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diar...	OMIM:212750
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Duodenal stenosis	ORPHA:2547
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ...	ORPHA:244
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Esophageal stenosis, Recurrent skin infections, Anal fissure, Esophageal stric...	ORPHA:89842
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Medial calcification of large arteries, Inflammatory abnormality of the skin, Ec...	ORPHA:391487
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Telecanthus, Cachexia	ORPHA:2774
Bardet-Biedl Syndrome 1	Aganglionic megacolon, Abnormality of the kidney, High, narrow palate, Biliary tract abnormality,...	OMIM:209900
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Marfanoid-Progeroid-Lipodystrophy Syndrome	Ectopia lentis, High, narrow palate, Hypertension, Keratoconjunctivitis sicca, High palate, Bruis...	OMIM:616914
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Intes...	ORPHA:464321
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hepatic steatosis, Abnormal pulmonary interstitial morphology, Hep...	OMIM:619013
Onychotrichodysplasia And Neutropenia	Chronic irritative conjunctivitis, Short eyelashes, Curly eyelashes	OMIM:258360
Multiple Endocrine Neoplasia Type 4	Peptic ulcer, Testicular neoplasm, Diarrhea, Insulinoma, Extrahepatic cholestasis, Episodic abdom...	ORPHA:276152
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Microvesicular hepatic steatosis, A...	OMIM:618278
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Failure to thrive, Pulmonary fibrosis	OMIM:615934
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, High, narrow palate, Gastrointes...	ORPHA:453504
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, High, narrow palate, Gastrointes...	ORPHA:352665
Immunodeficiency 31C	Recurrent respiratory infections, Villous atrophy, Osteomyelitis, Hepatomegaly, Eczema, Splenomeg...	OMIM:614162
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H...	OMIM:207900
Flotch Syndrome	Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Neoplasm ...	ORPHA:2045
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Abnormal lung lobation, Gastroesophag...	OMIM:270400
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri...	OMIM:277320
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Anorexia, Weight loss	ORPHA:86893
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis...	OMIM:155310
Alg9-Cdg	Hepatomegaly, Villous atrophy, Hypoplasia of the bladder, Ureteral hypoplasia, Abnormal lung loba...	ORPHA:79328
Pelizaeus-Merzbacher Disease	Recurrent respiratory infections, Bowel incontinence, Failure to thrive in infancy, Cachexia	ORPHA:702
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, P...	OMIM:618213
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Cleft palate, Enlarged kidney, Polycystic kidney dys...	OMIM:613091
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Arboleda-Tham Syndrome	Epicanthus, Lacrimal duct stenosis, Intestinal malrotation, Highly arched eyebrow, Bilateral cryp...	OMIM:616268
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Small scrotum, Epicanthus, Telecanthus, Multiple pterygia, Abnormal eyelid m...	ORPHA:2990
Fumarase Deficiency	Necrotizing enterocolitis, Failure to thrive, Decreased fumarate hydratase activity, Conjunctival...	OMIM:606812
Infantile Krabbe Disease	Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Gastroesophageal reflux, Vom...	ORPHA:206436
Biotinidase Deficiency	Skin rash, Eczematoid dermatitis, Conjunctivitis, Decreased circulating biotinidase concentration	ORPHA:79241
Barber-Say Syndrome	Telecanthus, Sparse eyelashes, Sparse eyebrow, Epiblepharon, Velopharyngeal insufficiency, Crypto...	OMIM:209885
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Cataract, Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Cent...	OMIM:616007
Adult Syndrome	Conjunctivitis, Eczema, Nasolacrimal duct obstruction	OMIM:103285
Kabuki Syndrome 1	Anal stenosis, Intestinal malrotation, Highly arched eyebrow, Malabsorption, Sparse eyebrow, Bila...	OMIM:147920
Riddle Syndrome	Pneumonia, Bronchitis, Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Enuresis ...	ORPHA:420741
Fanconi Anemia, Complementation Group B	Hypergonadotropic hypogonadism, Esophageal atresia, Abnormal lung lobation, Tracheoesophageal fis...	OMIM:300514
Eosinophilic Granulomatosis With Polyangiitis	Nausea and vomiting, Increased inflammatory response, Intestinal obstruction, Recurrent intrapulm...	ORPHA:183
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestation...	OMIM:619573
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Renal insufficiency, Premature ovarian insufficiency, Gastritis, Glomerulonephritis...	ORPHA:3261
Proteus-Like Syndrome	Cataract, Abnormal pupil morphology, Downslanted palpebral fissures, Limbal dermoid, Hemangioma, ...	ORPHA:2969
Gaisböck Syndrome	Peptic ulcer, Overweight, Splenomegaly, Obesity, Gout, Cholecystitis	ORPHA:90041
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Peripheral arteriovenous fist...	ORPHA:90308
Cystic Echinococcosis	Abdominal symptom, Multiple pulmonary cysts, Abnormal peritoneum morphology, Pulmonary cyst, Hepa...	ORPHA:400
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ...	ORPHA:329971
Primary Myelofibrosis	Hepatomegaly, Portal hypertension, Cachexia, Anorexia, Splenomegaly, Hepatosplenomegaly	ORPHA:824
Dural Sinus Malformation	Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorrhage, Intracr...	ORPHA:97339
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the ...	ORPHA:454840
Hyperparathyroidism-Jaw Tumor Syndrome	Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Episodic abdom...	ORPHA:99880
Familial Melanoma	Neoplasm of the pancreas, Neoplasm of the stomach	ORPHA:618
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Rhabdoid Tumor	Nausea and vomiting, Poor appetite, Abdominal pain, Weight loss, Neoplasm of the liver	ORPHA:69077
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
Cardiac-Urogenital Syndrome	Accessory spleen, Prolonged bleeding time, Unilateral cryptorchidism, Intestinal malrotation, Cry...	OMIM:618280
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Polysplenia, Chronic otitis media, Chronic sinusitis, Duodenal atresia	OMIM:619608
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, Corneal perforation...	ORPHA:289390
Juvenile Amyotrophic Lateral Sclerosis	Gastrostomy tube feeding in infancy, Cachexia, Dysphagia	ORPHA:300605
Lacrimoauriculodentodigital Syndrome 1	Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Absence of Stensen duct, Hypopla...	OMIM:149730
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Cataract, Skin rash, Anterior chamber flare, Intermed...	ORPHA:91500
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Obesity, Macroscopic hematuria, Enlarged k...	ORPHA:251004
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Bilateral trilobed lung, Renal agenesis, Cardiomegaly, Asplenia, Posteriorly placed...	OMIM:306955
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Esophageal varix, ...	ORPHA:974
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Pyloric stenosis, Atopic dermatitis	OMIM:614262
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Corneal dystrophy, Sparse eyebrow, Cryptorchidism, Synophrys, Buphthalmos, Anter...	ORPHA:495875
Neurotrophic Keratopathy	Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion...	ORPHA:137596
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis	OMIM:601539
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Duodenal atresia, Intestinal atresia	ORPHA:3405
Feingold Syndrome	Esophageal atresia, Abnormality of the spleen, Annular pancreas, Short palpebral fissure, Duodena...	ORPHA:1305
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Annular pancreas, Tr...	ORPHA:210122
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Fryns Syndrome	Aganglionic megacolon, Intestinal malrotation, Hypospadias, Corneal opacity, Cryptorchidism, Clef...	ORPHA:2059
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Brittle Cornea Syndrome 1	Keratoconus, Epicanthus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness	OMIM:229200
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Microcolon, Intestinal malrotation, Portal hypertension, Hepatic failure	OMIM:619431
African Trypanosomiasis	Abnormal EKG, Pericarditis, Hepatomegaly, Abnormality of the menstrual cycle, Keratitis, Myocardi...	ORPHA:3385
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Atelectasis, Bronchiectasis, Cholestasis, Abnormal pulmonary interstitial morpholog...	OMIM:620233
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Renal dysplasia, Hepatomegaly, Recurrent respiratory infections, Ureteral duplication, Failure to...	OMIM:266920
Johanson-Blizzard Syndrome	Absent lacrimal punctum, Hypoplasia of penis, Hypospadias, Malabsorption, Abnormality of the fema...	ORPHA:2315
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Ptosis, Intrahepatic cholestasis with episodic jaund...	ORPHA:100085
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Pyloric stenosis, Vascular dilatation, Feeding difficulties	OMIM:617219
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, A...	ORPHA:449563
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Hepatomegaly, Abnormal immunoglobulin level, Jaundice, Lymph nod...	ORPHA:276
Sarcoidosis	Abnormal lung morphology, Nephrocalcinosis, Tubulointerstitial nephritis, Emphysema, Hepatomegaly...	ORPHA:797
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Bronchiolitis obliterans, Small for gestational age, Failure to thrive in infancy	OMIM:617241
Chronic Hiccup	Malnutrition, Weight loss	ORPHA:396
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Abdominal pain, Chronic di...	ORPHA:90362
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Liver abscess, Elevated circulating C-reactive protein concentrati...	ORPHA:54251
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis, Glossoptosis, Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Central Retinal Vein Occlusion	Retinal vascular tortuosity, Intraretinal hemorrhage, Abnormal anterior eye segment morphology, R...	ORPHA:411527
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage	ORPHA:88619
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Septate vagina, Uterus didelphy...	OMIM:617925
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Nausea, Abdominal pain, Intestinal perforation, Respiratory tract infection, Myocardit...	ORPHA:544482
Erythrokeratodermia Variabilis	Cataract, Corneal opacity, Skin rash, Weight loss, Abnormal testis morphology	ORPHA:317
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Incre...	ORPHA:905
Immunodeficiency 12	Skin rash, Esophageal stricture, Bronchiectasis, Cheilitis, Recurrent aphthous stomatitis, Decrea...	OMIM:615468
Bladder Exstrophy	Hypoplasia of penis, Intestinal malrotation, Bowel incontinence, Epispadias, Abnormality of the c...	ORPHA:93930
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Enlarged lacrimal glands, Thyroiditis, Xerostomia, Abnormality of the ...	ORPHA:79078
Carpenter Syndrome 2	Epicanthus, Tricuspid regurgitation, Highly arched eyebrow, Sparse eyebrow, High, narrow palate, ...	OMIM:614976
Muir-Torre Syndrome	Neoplasm of the liver, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm	ORPHA:587
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Hepatic cysts, Cerebral berry aneurysm	OMIM:173900
Congenital Factor Xiii Deficiency	Inflammation of the large intestine, Hepatic failure, Cerebral hemorrhage	ORPHA:331
Otoonychoperoneal Syndrome	Upslanted palpebral fissure, Popliteal pterygium	ORPHA:2793
Kindler Syndrome	Anal stenosis, Esophageal stenosis, Telangiectasia of the skin, Symblepharon, Corneal erosion, Pe...	OMIM:173650
Medullary Thyroid Carcinoma	Diarrhea, Weight loss, Neoplasm of the lung, Abnormal liver parenchyma morphology, Dysphagia	ORPHA:1332
Frontometaphyseal Dysplasia 2	Subglottic stenosis, Feeding difficulties in infancy, Pyloric stenosis, Cryptorchidism, Cleft pal...	OMIM:617137
Fraser Syndrome	Subglottic stenosis, Laryngeal stenosis, Hypoplasia of penis, Small scrotum, Abnormal lung lobati...	ORPHA:2052
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Cryptorchidism, Cleft palate, Pulmonary hypoplasia, Pterygium	ORPHA:994
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Weight loss	ORPHA:411593
Colorectal Cancer, Susceptibility To, 10	Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis	OMIM:612591
Spondylospinal Thoracic Dysostosis	Multiple pterygia	OMIM:601809
Johanson-Blizzard Syndrome	Anteriorly placed anus, Hepatic fibrosis, Micropenis, Hepatomegaly, Hypospadias, Elevated circula...	OMIM:243800
Deafness-Lymphedema-Leukemia Syndrome	Nausea and vomiting, Prolonged bleeding time, Recurrent respiratory infections, Hepatomegaly, Spl...	ORPHA:3226
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the...	OMIM:243700
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureteral reflux, Renal ...	OMIM:130650
Retinoblastoma	Lymphoma, Leukocoria, Cleft palate, Vitreous hemorrhage, Retinoblastoma, Leukemia, Ewing sarcoma,...	OMIM:180200
Bloom Syndrome	Uveitis, Neoplasm, Gastroesophageal reflux, Neoplasm of the breast, Otitis media, Stomach cancer,...	ORPHA:125
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Highly arched eyebrow, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Eversion of latera...	ORPHA:487796
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Atelectasis, Hypersensitivity pneumonitis, Atopic derm...	ORPHA:2902
Recon Progeroid Syndrome	Red eye, Keratoconjunctivitis sicca, Absent lower eyelashes	OMIM:620370
Factor V Deficiency	Prolonged bleeding time, Prolonged prothrombin time	OMIM:227400
Cocaine Intoxication	Glomerulonephritis, Mydriasis, Diffuse alveolar hemorrhage, Intestinal perforation, Abdominal pai...	ORPHA:90068
Penile Agenesis	Urethral atresia, male, Hydroureter, Rectal fistula, Cryptorchidism, Fetal pyelectasis, Anorectal...	ORPHA:49
Metachromatic Leukodystrophy	Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladde...	ORPHA:512
Fryns Syndrome	Bifid scrotum, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Hypospad...	OMIM:229850
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Micropenis, Hepat...	OMIM:263520
Sweet Syndrome	Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati...	ORPHA:3243
Ramos-Arroyo Syndrome	Aganglionic megacolon, Keratitis, Dacryocystitis, Xerostomia, Nasolacrimal duct obstruction, Upsl...	ORPHA:1051
Classical-Like Ehlers-Danlos Syndrome Type 2	Long uvula, Bilateral ptosis, Cryptorchidism, Narrow palate, Keratoconjunctivitis sicca, Astigmat...	ORPHA:536532
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Eczema, Hematemesis, Diarrhea, Recurrent upper respiratory tract infecti...	OMIM:301000
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Red eye, Posterior synechiae of the anterior chamber	ORPHA:280921
Ppoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Hepatomegaly, Neoplasm ...	ORPHA:97278
Grfoma	Anorexia, Poor appetite, Lack of bowel sounds, Zollinger-Ellison syndrome, Hepatomegaly, Episodic...	ORPHA:97261
Linear Verrucous Nevus Syndrome	Astrocytoma, Cataract, Neoplasm of the central nervous system, Abnormal cornea morphology, Iris c...	ORPHA:2611
Microphthalmia, Syndromic 1	Aganglionic megacolon, Hypospadias, High, narrow palate, Rectal prolapse, Pyloric stenosis, Crypt...	OMIM:309800
Fraser Syndrome 2	Intestinal malrotation, Abdominal distention, Rectal atresia, Ambiguous genitalia, Cryptophthalmo...	OMIM:617666
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Prolonged bleeding time, Abnormality of the kidney, Impaired ADP-induced platelet aggregation, Me...	OMIM:155100
Mosaic Variegated Aneuploidy Syndrome 2	Epicanthus, Small for gestational age, Abnormal lung lobation, Blepharophimosis, Downslanted palp...	OMIM:614114
Cowden Syndrome	Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma...	ORPHA:201
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Ptosis, Short hard palate, Cachexia, Anorexia	ORPHA:1969
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, High, narrow palate, High palate, Gastroesophageal reflux...	OMIM:619472
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Cataract, Subdural hemorrhage, Retinal hemorrhage, M...	ORPHA:90324
Common Variable Immunodeficiency	Elevated hepatic transaminase, Recurrent respiratory infections, Pneumonia, Gastrointestinal stro...	ORPHA:1572
Meier-Gorlin Syndrome 7	Anal stenosis, Clitoral hypertrophy, Hypospadias, Cryptorchidism, Cleft palate, Duodenal stenosis...	OMIM:617063
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar...	ORPHA:220460
Cirrhosis, Familial	Abdominal distention, Fulminant hepatitis, Jaundice, Esophageal varix, Micronodular cirrhosis, Bi...	OMIM:215600
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Pleural effusion, Weight loss	ORPHA:545
Silver-Russell Syndrome 3	Small for gestational age, Unilateral cryptorchidism, Antecubital pterygium, Decreased body weight	OMIM:616489
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Gastrointes...	ORPHA:100078
Schwartz-Jampel Syndrome	Abnormal eyebrow morphology, Cataract, Long eyelashes in irregular rows, Cachexia, Ectopia lentis...	ORPHA:800
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Large for gestational age, Vesicoureteral reflux, Hepatoblast...	ORPHA:116
Shwachman-Diamond Syndrome 2	Subglottic stenosis, Hepatomegaly, Hyperechogenic pancreas, Diarrhea, Prolonged prothrombin time,...	OMIM:617941
Igg4-Related Aortitis	Abdominal pain, Intestinal obstruction, Increased inflammatory response, Weight loss	ORPHA:449400
Plague	Glossitis, Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, Inf...	ORPHA:707
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Macronodular cirrhosis, Dec...	OMIM:620005
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Esophageal atresia, Tracheoesophageal fistula	OMIM:189960
Leukocyte Adhesion Deficiency	Abnormal bleeding, Acute myeloid leukemia, Sinusitis, Severe periodontitis, Pneumonia, Osteomyeli...	ORPHA:2968
Fraser Syndrome 1	Subglottic stenosis, Abnormal small intestine morphology, Laryngeal stenosis, Absent eyebrow, Hyp...	OMIM:219000
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Weight loss, Pulmonary fibrosis, Dysphagia	ORPHA:93672
Duodenal Atresia	Duodenal atresia	OMIM:223400
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Bowel urgency, Abdominal pain, Lack of bow...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Bowel urgency, Abdominal pain, Lack of bow...	ORPHA:100082
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Diarrhea, Weight loss, Hepato...	OMIM:209950
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabsorpt...	ORPHA:405
Chromosome 8Q22.1 Duplication Syndrome	Laryngeal stenosis, Microcornea, Upslanted palpebral fissure, Narrow palpebral fissure, Gastroeso...	OMIM:151200
Dyskeratosis Congenita	Neoplasm of the pancreas, Recurrent respiratory infections, Hepatomegaly, Esophageal stenosis, Ab...	ORPHA:1775
Intellectual Developmental Disorder, Autosomal Dominant 53	Epicanthus, Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Micropenis, Dow...	OMIM:617798
Short Stature, Developmental Delay, And Congenital Heart Defects	Uveitis, Developmental cataract	OMIM:617044
Iga Pemphigus	Neutrophilic infiltration of the skin, Pruritus, Pustule, Ulcerative colitis, Cutaneous abscess	ORPHA:555905
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Oral leukoplakia, Intestinal bleeding, Gastrointestinal telangiectasia, Pulmonary fibrosis	OMIM:612199
Fanconi Anemia	Abnormal eyelid morphology, Abnormality of the liver, High palate, Abnormality of the uterus, Hyp...	ORPHA:84
Myh9-Related Disease	Elevated hepatic transaminase, Prolonged bleeding time, Renal insufficiency, Proteinuria, Menorrh...	ORPHA:182050
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Thoracic aortic aneurysm, Ileal atresia, Abdominal distention, Patent ductus arteriosus, Peritoni...	OMIM:619351
Takayasu Arteritis	Increased inflammatory response, Anorexia, Weight loss, Arthritis, Gastrointestinal infarctions, ...	ORPHA:3287
Leiomyoma Of Vulva And Esophagus	Clitoral hypertrophy, Esophageal obstruction	OMIM:150700
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Bowel urgency, Abdominal pain, Lack of bow...	ORPHA:100080
Feingold Syndrome 1	Accessory spleen, Epicanthus, Jejunal atresia, Asplenia, Esophageal atresia, Gastrointestinal atr...	OMIM:164280
Immunodeficiency, Common Variable, 10	Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Pyloric stenosis, Recurrent pneumo...	OMIM:615577
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Recurrent urinary tract infections, Small for gestational age, Int...	OMIM:613658
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Menorrhagia, Impaired ristocetin-induced pl...	OMIM:231200
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Corneal pterygium, Symblepharon	OMIM:245660
Tarp Syndrome	Failure to thrive, Thick eyebrow, Cryptorchidism, Cleft palate, Glossoptosis, Pulmonary hypoplasi...	ORPHA:2886
Brucellosis	Liver abscess, Bronchitis, Anorexia, Knee osteoarthritis, Abnormality of the liver, Vomiting, Inf...	ORPHA:1304
Renal Agenesis, Bilateral	Epicanthus, Tracheoesophageal fistula, Cleft palate, Abnormal intestine morphology, Pulmonary hyp...	ORPHA:1848
Somatostatinoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Hepatomegaly, Neoplasm ...	ORPHA:97283
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Intestinal malrotation, Hamartoma of tongue, Splenomegaly, Atelectasis, Renal hypop...	OMIM:269860
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Spontaneous neonatal pneumothorax, Intraalveolar phospholipid accumulation, Abnormal pulmonary in...	ORPHA:217563
Incontinentia Pigmenti	Cataract, Corneal opacity, Skin rash, Telangiectasia of the skin, Keratitis, Retinal vascular pro...	ORPHA:464
Rhombencephalosynapsis	Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Abnormality of the uterus, ...	ORPHA:59315
Cockayne Syndrome	Elevated hepatic transaminase, Hepatomegaly, Anhidrosis, Cataract, Cachexia, Band keratopathy, Cr...	ORPHA:191
Gaucher Disease Type 1	Hepatomegaly, Proteinuria, Hypersplenism, Splenomegaly, Abnormal pulmonary interstitial morpholog...	ORPHA:77259
Branchio-Oculo-Facial Syndrome	Cataract, Nasolacrimal duct obstruction, Microcornea, Upslanted palpebral fissure, High palate, H...	ORPHA:1297
Meckel Syndrome 12	Hypoplasia of the uterus, Antecubital pterygium, Vaginal atresia, Bifid uvula	OMIM:616258
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Gastroesophageal reflux, Unilateral renal agenesis, Splenic cyst	OMIM:618188
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Oral-pharyngeal dy...	OMIM:615273
Recessive Dystrophic Epidermolysis Bullosa Inversa	Vaginal stricture, Esophageal stricture, Corneal erosion, Gastrointestinal inflammation	ORPHA:79409
Meckel Syndrome 14	Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia, Polycystic kidney dysplasia	OMIM:619879
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Epicanthus, Cataract, Small for gestational age, Hypospadias, Feeding difficulties...	OMIM:257300
Meacham Syndrome	Accessory spleen, Partial anomalous pulmonary venous return, Horseshoe kidney, Cardiac total anom...	OMIM:608978
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pneumonia, Abnormal pulmonary interstitial morphology, Weight loss, Hepatic failure	ORPHA:97287
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent pneumonia, Macroglossia, Mucopolysacchariduri...	OMIM:252500
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Telecanthus, Hypospadias, Blepharophimosis, Cryptorchidism, Cleft palate, Anteriorly placed anus,...	OMIM:217980
Marfan Syndrome	Arthralgia/arthritis, Spontaneous pneumothorax, Flat cornea, Cachexia, Lens luxation, Ectopia len...	ORPHA:558
Fanconi Anemia, Complementation Group W	Polysplenia, Duodenal atresia	OMIM:617784
Hypomandibular Faciocranial Dysostosis	Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Cleft palate, Upslanted palpe...	ORPHA:1790
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Hypertrophic cardiomyopathy, Conjunctival hyperemia, Bifid uvula, Highly arched eyebrow	OMIM:619121
Mounier-Kühn Syndrome	Recurrent respiratory infections, Pneumonia, Bronchitis, Recurrent bronchopulmonary infections, T...	ORPHA:3347
Acute Lung Injury	Acute pancreatitis, Abnormal pulmonary interstitial morphology, Pneumonia, Diffuse alveolar hemor...	ORPHA:178320
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Gastrointestin...	ORPHA:727
Microcephalic Primordial Dwarfism, Montreal Type	Congenital pyloric atresia	ORPHA:2617
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Laterally extended eyebrow, Synophrys, Buphthalmos, Keratoconjunctivitis sicca, Long eyelashes	OMIM:618479
Intermediate Uveitis	Anterior uveitis, Cataract, Psoriasiform dermatitis, Band keratopathy, Vasculitis, Tubulointersti...	ORPHA:279914
Mu-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:100024
Immunodeficiency 13	Recurrent upper respiratory tract infections, Bronchiolitis obliterans organizing pneumonia, Bron...	OMIM:615518
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pneumonia, Splenomegaly, Hepatitis, Abnormal pulmona...	ORPHA:781
Isaacs Syndrome	Weight loss	ORPHA:84142
Stickler Syndrome	Recurrent respiratory infections, Epicanthus, Telecanthus, Slender build, Cataract, Cachexia, Ect...	ORPHA:828
Gaucher Disease	Hepatomegaly, Proteinuria, Splenomegaly, Hepatitis, Abnormal pulmonary interstitial morphology, H...	ORPHA:355
Oculoectodermal Syndrome	Epicanthus, Transient ischemic attack, Microcornea, Eyelid coloboma, Astigmatism, Opacification o...	OMIM:600268
Bone Dysplasia, Lethal Holmgren Type	Nausea and vomiting, Recurrent respiratory infections, Hepatomegaly, Diarrhea, Weight loss, Failu...	ORPHA:1842
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hypertension, Abdominal p...	ORPHA:465508
Carney Complex	Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi...	ORPHA:1359
Endocrine-Cerebroosteodysplasia	Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Median cleft palate, Enlarged ...	OMIM:612651
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cleft hard palate, Abnormal pupil morphology, Microcornea, Bifid uvula, Iris coloboma, Iris atrop...	ORPHA:261552
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Hypospadias, Palpebral edema, Feeding difficulties, Gastroesophageal reflux, Esophagitis	ORPHA:79350
Orofaciodigital Syndrome Type 4	Decreased testicular size, Recurrent respiratory infections, Monorchism, High, narrow palate, Sub...	ORPHA:2753
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Antecubital pterygium, Cleft palate	OMIM:618469
Glycogen Storage Disease Ic	Hepatomegaly, Stomatitis, Chronic pancreatitis, Recurrent upper respiratory tract infections, Gou...	OMIM:232240
Methimazole Embryofetopathy	Esophageal atresia, Hypospadias, Tracheoesophageal fistula	ORPHA:1923
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Uve...	OMIM:186580
Allergic Bronchopulmonary Aspergillosis	Emphysema, Bronchiectasis, Weight loss	ORPHA:1164
Epidermolysis Bullosa, Junctional 1B, Severe	Pyloric stenosis	OMIM:226700
Plummer-Vinson Syndrome	Tongue atrophy, Poor appetite, Abdominal pain, Cheilitis, Esophageal web, Dysphagia, Glossitis	ORPHA:54028
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Abdominal distention, Aplasia of the vagina, Pulmonary hypoplasia, Apl...	OMIM:271520
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Chronic diarrhea, Sclerosing cholangitis, Es...	OMIM:619652
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Pyloric stenosis	OMIM:133705
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia	OMIM:619227
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Joubert Syndrome 1	Protruding tongue, Renal cyst, Macroglossia, Hepatic fibrosis, Nephropathy	OMIM:213300
Mirage Syndrome	Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Esophageal stricture, Chronic diarrh...	OMIM:617053
Miller-Dieker Lissencephaly Syndrome	Epicanthus, Cataract, Cryptorchidism, Cleft palate, Upslanted palpebral fissure, Failure to thriv...	OMIM:247200
Meacham Syndrome	Hypoplasia of penis, Cryptorchidism, Abnormality of the spleen, Abnormal lung lobation, Hydrometr...	ORPHA:3097
Cranioectodermal Dysplasia 1	Hepatomegaly, Recurrent respiratory infections, Malformation of the hepatic ductal plate, Renal m...	OMIM:218330
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Epicanthus, Pterygium, Multiple pterygia	OMIM:177980
Fg Syndrome 3	Pyloric stenosis, Chronic constipation, Feeding difficulties	OMIM:300406
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Orchitis, Urinary bladder inflam...	ORPHA:556
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Epicanthus, Malabsorption, Abnormality of the menstrual cycle, Osteoarthritis, Gastr...	ORPHA:285
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Sclerocornea, Esophageal atresia, Cryptorchidism, Tracheoesopha...	ORPHA:77298
Turner Syndrome Due To Structural X Chromosome Anomalies	Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflammation of the large int...	ORPHA:99413
Mosaic Monosomy X	Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflammation of the large int...	ORPHA:99228
Monosomy X	Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflammation of the large int...	ORPHA:99226
Turner Syndrome	Ectopic kidney, High, narrow palate, Gastrointestinal inflammation, Inflammation of the large int...	ORPHA:881
Gm1 Gangliosidosis	Recurrent respiratory infections, Corneal opacity, Splenomegaly, Weight loss, Feeding difficultie...	ORPHA:354
Glucagonoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Hepatomegaly, Skin rash...	ORPHA:97280
Von Willebrand Disease	Venous insufficiency, Abnormal platelet function	ORPHA:903
Central Diabetes Insipidus	Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive	ORPHA:178029
Carey-Fineman-Ziter Syndrome	Laryngeal stenosis, Epicanthus, Aplasia/Hypoplasia of the tongue, Glandular hypospadias, Cleft pa...	ORPHA:1358
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Weight loss	ORPHA:30925
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
8P23.1 Microdeletion Syndrome	Epicanthus, Hypospadias, Cryptorchidism, Pulmonary artery stenosis, Obesity, Weight loss, Upslant...	ORPHA:251071
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis, Pneumonia	ORPHA:1303
Sandifer Syndrome	Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ...	ORPHA:71272
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Esophageal atresia, Cryptorchidism, Tracheoesophageal fistula, Cleft palate,...	ORPHA:3157
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Aspiration pneumonia, Dysphagia	ORPHA:216866
Vipoma	Nausea and vomiting, Hepatomegaly, Neoplasm of the pancreas, Anorexia, Malabsorption, Poor appeti...	ORPHA:97282
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Acitretin/Etretinate Embryopathy	Epicanthus, Antecubital pterygium, High palate, Third degree atrioventricular block, Bradycardia,...	ORPHA:40366
Anorectal Anomalies	Rectovaginal fistula, Anal atresia	OMIM:107100
Stromme Syndrome	Accessory spleen, Cataract, Jejunal atresia, Intestinal malrotation, Sclerocornea, Cleft palate, ...	OMIM:243605
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Conjunctival whitish salt-like deposits	OMIM:211900
Giant Cell Arteritis	Pericarditis, Abnormal pleura morphology, Anorexia, Abdominal pain, Recurrent pharyngitis, Weight...	ORPHA:397
Surfactant Metabolism Dysfunction, Pulmonary, 1	Desquamative interstitial pneumonitis, Intraalveolar phospholipid accumulation, Absent bronchoalv...	OMIM:265120
Dermatomyositis	Recurrent respiratory infections, Gastrointestinal stroma tumor, Abnormal pulmonary interstitial ...	ORPHA:221
Neuroendocrine Tumor Of Stomach	Nausea and vomiting, Hepatomegaly, Elevated hepatic transaminase, Anorexia, Poor appetite, Hemate...	ORPHA:100075
Ogden Syndrome	Global glomerulosclerosis, Cardiomegaly, Microvesicular hepatic steatosis, Jaundice, Pulmonary ar...	OMIM:300855
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Pyloric stenosis, High palate	ORPHA:314575
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hypospadias, Intestinal malrotation, Asplenia, Esophageal atresia, Pulmonary artery stenosis, Par...	OMIM:265380
Fanconi Anemia, Complementation Group Q	Anteriorly placed anus, Esophageal atresia, Biliary atresia	OMIM:615272
Apert Syndrome	Acne, Pyloric stenosis, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft palate, Ectopic ...	OMIM:101200
Chitayat Syndrome	Recurrent respiratory infections, Abnormal pulmonary interstitial morphology	OMIM:617180
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Epicanthus, Cataract, Corneal opacity, Vaginal neoplasm, Abnormal lung loba...	ORPHA:1052
Gallbladder Neuroendocrine Tumor	Anorexia, Biliary tract neoplasm, Abdominal distention, Extrahepatic cholestasis, Episodic abdomi...	ORPHA:100086
Huntington Disease	Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia	ORPHA:399
Jacobsen Syndrome	Recurrent respiratory infections, Epicanthus, Telecanthus, Hypospadias, Abnormal eyelash morpholo...	OMIM:147791
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Poor appetite, Anorexia, Splenomegaly, Weight loss	ORPHA:391
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Failure to thrive, Cachexia, Corneal scarring	OMIM:610965
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Recurrent respiratory infections, Telecanthus, Absence of Stensen duct, Hypogonadotropic hypogona...	OMIM:129900
Gaucher Disease, Type I	Hypersplenism, Hepatomegaly, Abnormal pulmonary interstitial morphology, Splenomegaly	OMIM:230800
Attrv30M Amyloidosis	Diarrhea, Constipation, Weight loss	ORPHA:85447
Tetraamelia Syndrome 1	Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Peripheral pulmo...	OMIM:273395
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Dyssegmental Dysplasia, Silverman-Handmaker Type	Cryptorchidism, Pterygium, Cataract	OMIM:224410
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Retinal hemorrhage, Corneal scarring, Hyperhidrosis, Hypertension, High palate, Brad...	OMIM:614653
Rubinstein-Taybi Syndrome	Telecanthus, Epicanthus, Failure to thrive in infancy, Highly arched eyebrow, Cryptorchidism, Nas...	ORPHA:783
Oromandibular Dystonia	Blepharospasm, Weight loss, Dysphagia	ORPHA:93958
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Duodenal atresia	ORPHA:3004
Fanconi Anemia, Complementation Group F	Pneumonia, Cryptorchidism, Microphallus, Failure to thrive, Duodenal atresia	OMIM:603467
Orofaciodigital Syndrome I	Proteinuria, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue nodules, Lobulated tongu...	OMIM:311200
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Increased circulating guanosine concentration, Splenomegaly, Lymph node hypoplasia,...	OMIM:613179
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Intestinal malrotation, Abdominal distention, Corneal erosion, Secretory diarrhea, Cleft palate, ...	OMIM:270420
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Failure to thrive in infancy, Feeding difficulties in infancy, Pustule, Atopic der...	ORPHA:171876
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Ankylobleph...	OMIM:119500
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis...	ORPHA:2241
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Absence of Stensen duct, Hypogonadotropic hypogonadism, Sparse eyelashes, Lacrimal...	OMIM:604292
Overlap Myositis	Elevated hepatic transaminase, Abnormality of the kidney, Abnormal pulmonary interstitial morphol...	ORPHA:206572
Huntington Disease-Like 2	Weight loss	OMIM:606438
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology	ORPHA:3411
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Arrhythmia, Hypogonadism, Nasolacrimal duct obstruction	OMIM:273400
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Villous atrophy, Failure to thrive in infancy, Hepatosplenomega...	OMIM:606367
Late-Onset Isolated Acth Deficiency	Nausea and vomiting, Anorexia, Abdominal pain, Celiac disease, Diarrhea, Hepatitis, Weight loss, ...	ORPHA:199299
Leprosy	Absent eyebrow, Epistaxis, Loss of eyelashes, Testicular mass, Uveitis, Paralytic lagophthalmos, ...	ORPHA:548
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hepatic fibrosis, Gastroesophageal reflux, Intrahepatic bile duct dilatation, Hepatomegaly, Eleva...	OMIM:619534
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Conjunctival hyperemia, Neuromuscular dysphagia	ORPHA:240071
Chromosome 17Q12 Duplication Syndrome	Esophageal atresia, Downslanted palpebral fissures, Cleft soft palate	OMIM:614526
Immune-Mediated Necrotizing Myopathy	Abnormal pulmonary interstitial morphology, Dysphagia	ORPHA:206569
Hermansky-Pudlak Syndrome 10	Splenomegaly, Hepatomegaly, Abnormal pulmonary interstitial morphology, Recurrent respiratory inf...	OMIM:617050
1P36 Deletion Syndrome	Hypoplasia of penis, Feeding difficulties in infancy, Abnormality of the spleen, Abnormality of t...	ORPHA:1606
Nail-Patella Syndrome	Keratoconus, Ptosis, Cataract, Glomerulonephritis, Antecubital pterygium, Cleft palate, Microcorn...	OMIM:161200
Distal Deletion 12Q	Late onset atopic dermatitis, Telecanthus, Failure to thrive in infancy, Unilateral cryptorchidis...	ORPHA:96149
Pulmonary Non-Tuberculous Mycobacterial Infection	Diarrhea, Pneumothorax, Bronchiectasis, Weight loss, Pleural effusion	ORPHA:411703
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Malabsorption, Abnormal retinal vascular mo...	ORPHA:33226
Bruck Syndrome	Pterygium	ORPHA:2771
Meconium Ileus	Chronic diarrhea, Microcolon, Meconium ileus	OMIM:614665
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Pyloric stenosis, Splenomegaly, Ileus, Recurrent pne...	OMIM:613327
Bruck Syndrome 1	Pterygium	OMIM:259450
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Almond-shaped palpebral fissure, Cryptorchidism, Dysphagia, Gastroesophageal reflux, Pulmonic ste...	ORPHA:438213
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Abnormal internal genitalia, Intestinal malrotation, Tracheoesophageal fistula, Urogenital sinus ...	ORPHA:2973
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Macroglossia, Pleural effusion, Enlarged kidney, Pulmonary edema	OMIM:261740
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Intestinal malrotation, Pulmonary artery stenosis, Patent ductus arteriosus, ...	OMIM:600001
Bruck Syndrome 2	Pterygium	OMIM:609220
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Skin rash, Acne, Sudden cardiac death, Angina pectoris, Telangiectas...	ORPHA:758
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Raynaud phenomenon, Micronodular cirr...	OMIM:192315
Craniofacial Dyssynostosis With Short Stature	Pyloric stenosis, Patent ductus arteriosus	OMIM:218350
Feingold Syndrome Type 1	Jejunal atresia, Short palpebral fissure, Esophageal atresia, Gastrointestinal atresia, Nephritis...	ORPHA:391641
Acute Myelomonocytic Leukemia	Weight loss	ORPHA:517
Peritoneal Cystic Mesothelioma	Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation	ORPHA:168816
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Impaired oxidative burst, Reduction of neutrophil motility, Rectal abscess, Impaired neutrophil c...	OMIM:608203
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Rhinitis	ORPHA:507
Ulnar-Mammary Syndrome	Subglottic stenosis, Anal stenosis, Small scrotum, Pyloric stenosis, Obesity, Bicornuate uterus, ...	OMIM:181450
Microform Holoprosencephaly	Hypoplasia of penis, Cleft palate, Ambiguous genitalia, Iris coloboma, Duodenal atresia	ORPHA:280200
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl...	ORPHA:2929
Griscelli Syndrome	Hepatomegaly, Splenomegaly, Pyloric stenosis, Jaundice, Hepatitis	ORPHA:381
Castleman Disease	Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Abdominal...	ORPHA:160
Storage Pool Platelet Disease	Prolonged bleeding time	OMIM:185050
Moebius Syndrome	Epicanthus, Corneal opacity, Aplasia/Hypoplasia of the tongue, Hypogonadotropic hypogonadism, Cle...	ORPHA:570
Ciliary Dyskinesia, Primary, 1	Male infertility, Pneumonia, Bronchiectasis, Abnormal cornea morphology, Chronic rhinitis, Chroni...	OMIM:244400
Multiple Pterygium Syndrome, X-Linked	Cleft palate, Epicanthus, Multiple pterygia	OMIM:312150
Simpson-Golabi-Behmel Syndrome, Type 1	Abnormal lung lobation, Renal cyst, Hepatoblastoma, Hepatomegaly, Exaggerated median tongue furro...	OMIM:312870
Recombinant 8 Syndrome	Patent ductus arteriosus, Pulmonary artery stenosis, Cleft palate, Chronic otitis media, Tetralog...	ORPHA:96167
Oculotrichoanal Syndrome	Anal stenosis, Upper eyelid coloboma, Nasolacrimal duct obstruction, Anteriorly placed anus, Cryp...	ORPHA:2717
Mandibulofacial Dysostosis, Guion-Almeida Type	Epicanthus, Telecanthus, Feeding difficulties in infancy, Esophageal atresia, Cleft palate, Upsla...	OMIM:610536
Autosomal Recessive Omodysplasia	Cryptorchidism, Pterygium	ORPHA:93329
Pgm3-Cdg	Lactose intolerance, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, ...	ORPHA:443811
Sympathetic Ophthalmia	Cataract, Retinal hemorrhage, Anterior chamber cells, Posterior synechiae of the anterior chamber...	ORPHA:79098
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse eyelashes, Eczema, Blepharitis, Hypohidrosis	OMIM:618535
Dermatosparaxis Ehlers-Danlos Syndrome	Prolonged bleeding time, Epicanthus, Hiatus hernia, Gastroesophageal reflux, Esophagitis	ORPHA:1901
Hereditary Hyperekplexia	Gastroesophageal reflux, Esophagitis, Hiatus hernia	ORPHA:3197
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Large for gestational age, Macroglossia, Nephrob...	ORPHA:500095
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hematemesis, Splenomegaly, Di...	OMIM:615846
Rift Valley Fever	Abnormal bleeding, Elevated hepatic transaminase, Skin rash, Hematemesis, Jaundice, Hepatitis, Uv...	ORPHA:319251
Antiphospholipid Syndrome, Familial	Keratitis, Central retinal artery occlusion, Scleritis, Retinal vasculitis, Iritis	OMIM:107320
Phaver Syndrome	Epicanthus, Pterygium, Downslanted palpebral fissures	ORPHA:2876
Paroxysmal Nocturnal Hemoglobinuria	Esophageal spasms, Myocardial infarction, Pulmonary embolism, Abnormal erythrocyte enzyme level, ...	ORPHA:447
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Fucosidosis	Hepatomegaly, Failure to thrive, Anhidrosis, Petechiae, Tortuosity of conjunctival vessels, Macro...	OMIM:230000
Vacterl With Hydrocephalus	Esophageal atresia, Cryptorchidism, Tracheoesophageal fistula, Microcornea, Pulmonary hypoplasia,...	ORPHA:3412
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrioventricular block, Abnormality of the orbital region, Arthritis, Hypertension, Pterygium, Ir...	ORPHA:371428
Dyskeratosis Congenita, Autosomal Dominant 6	Esophageal stenosis, Oral leukoplakia	OMIM:616553
Scimitar Syndrome	Recurrent respiratory infections, Anomalous origin of left coronary artery from the pulmonary art...	ORPHA:185
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Microcolon	ORPHA:163746
Gray Platelet Syndrome	Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Splenomegaly, Menorrhagi...	OMIM:139090
Systemic Capillary Leak Syndrome	Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Weight loss, Pleural effusion, Pancreatitis,...	ORPHA:188
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Prolonged prothrombin time, Menorrhagia	OMIM:613679
Coffin-Siris Syndrome 11	Cleft soft palate, Feeding difficulties in infancy, Esophageal atresia, High palate, Bifid uvula	OMIM:618779
Sea-Blue Histiocytosis	Abnormal bleeding, Hepatomegaly, Blepharitis, Petechiae	ORPHA:158029
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Popliteal pterygium, Downslanted palpebral fissures, Median cleft palate	OMIM:119800
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Hepatitis,...	ORPHA:139402
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Ovarian cyst, Uterine ...	OMIM:617100
Multiple Pterygium Syndrome, Escobar Variant	Exostosis of the external auditory canal, Epicanthus, Bilateral ptosis, Cryptorchidism, Neck pter...	OMIM:265000
Microcephaly 30, Primary, Autosomal Recessive	Tracheal stenosis, Epicanthus, Cleft soft palate, Long palpebral fissure	OMIM:620183
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili...	OMIM:615508
Peripheral Primitive Neuroectodermal Tumor	Nausea and vomiting, Neoplasm of the pancreas, Anorexia, Precocious puberty, Abdominal distention...	ORPHA:370348
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Telecanthus, Recurrent skin infections, Intestinal malrotation, Hiatus hernia, Cryptorchidism, Pn...	OMIM:601776
Enlarged Parietal Foramina	Venous malformation, Abnormal cerebral vein morphology, Vomiting, Cleft palate	ORPHA:60015
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Peripheral pulmonary artery stenosis, Anal stenosis, Epicanthus, Feeding difficulties in infancy,...	ORPHA:280633
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Esophageal varix, Hypersplenism	OMIM:616028
Bardet-Biedl Syndrome 6	Vaginal atresia, Hypospadias, Obesity, External genital hypoplasia	OMIM:605231
Ectodermal Dysplasia/Short Stature Syndrome	Esophageal stricture, Dysphagia	OMIM:616029
Dyrk1A-Related Intellectual Disability Syndrome	Small for gestational age, Hypospadias, Eczema, Corneal opacity, Pyloric stenosis, Cryptorchidism...	ORPHA:464306
Fatal Familial Insomnia	Weight loss, Constipation, Dysphagia	OMIM:600072
Phosphoribosylaminoimidazole Carboxylase Deficiency	Bilateral cryptorchidism, Esophageal atresia, Coronal hypospadias, Tracheoesophageal fistula	OMIM:619859
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Aplasi...	ORPHA:564
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Gastrointestinal hemorrhage, Conjunctival telangiectasia, Portal hypertensi...	ORPHA:774
Immunodeficiency 23	Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Eczema, Allergic rhin...	OMIM:615816
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,...	ORPHA:677
Simple Cryoglobulinemia	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Membranopro...	ORPHA:91139
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Epicanthus, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism,...	OMIM:614527
Multiple Pterygium Syndrome, Lethal Type	Cleft palate, Epicanthus, Multiple pterygia	OMIM:253290
Oculoauricular Syndrome	Cataract, Sclerocornea, Nasolacrimal duct obstruction, Developmental cataract, Microcornea, Iris ...	OMIM:612109
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Pustule, Congestive heart failure, Overweight, Cheilitis, Uveitis,...	ORPHA:247353
Zellweger Syndrome	Hepatomegaly, Malabsorption, Feeding difficulties in infancy, Pyloric stenosis, Jaundice, High pa...	ORPHA:912
Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness	Nasolacrimal duct obstruction	OMIM:614187
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Skin rash, Pneumonia, Abnormality of body weight, Enlarged polycystic ovaries, ...	ORPHA:2298
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Esophageal stricture, Crusting erythematous dermatitis	ORPHA:158673
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Epicanthus, Splenomegaly, Hydrometrocolpos, Aplasia of the epiglottis, Downslanted ...	OMIM:617088
Hypercalcemia, Infantile, 1	Failure to thrive, Vomiting, Weight loss	OMIM:143880
Gjc2-Related Late-Onset Primary Lymphedema	Recurrent skin infections, Venous insufficiency, Abnormal lymphatic vessel morphology, Varicose v...	ORPHA:568051
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Abdominal pain, Portal vein throm...	ORPHA:729
Lymphoproliferative Syndrome 2	Hepatomegaly, Lymphoproliferative disorder, Recurrent pneumonia, Lymphoma, EBV encephalitis, Uvei...	OMIM:615122
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Small for gestational age, Hypospadias, Corneal opacity, Cryptorchidism, Feeding difficulties, As...	ORPHA:464311
Slc35A1-Cdg	Prolonged bleeding time, Pneumonia	ORPHA:238459
Hamamy Syndrome	Hypoparathyroidism, Telecanthus, Sparse eyelashes, Prolonged QRS complex, Sparse eyebrow, Cryptor...	OMIM:611174
Seckel Syndrome	Downslanted palpebral fissures, Cachexia	ORPHA:808
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Psoriasiform dermatitis, Septate vagina, Uterus didelphys, Cleft palate, Aplasia of the uterus, V...	ORPHA:2237
Glossopharyngeal Neuralgia	Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Weight loss, Feeding difficulties	ORPHA:221098
Alveolar Echinococcosis	Pulmonary cyst, Liver abscess, Cholangitis, Portal hypertension, Abdominal pain, Pancreatic cysts...	ORPHA:284
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Multiple pterygia, Antecubital pterygium, Cleft palate, Popliteal pterygium, Downslanted palpebra...	OMIM:178110
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Gastrointestinal angiodysplasia, Menorrhagi...	OMIM:193400
Pneumocystosis	Multiple pulmonary cysts, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Chro...	ORPHA:723
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Nasolacrimal duct obstruction	ORPHA:440727
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Epicanthus, Hypospadias, Cryptorchidism, Furrowed tongue, Feeding difficulties, Upslanted palpebr...	OMIM:616975
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Sclerocornea, Feeding difficulties in infancy, Abnormal lung lobation, Gastr...	ORPHA:818
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hydrocele testis, Nephroblastoma, Enlarged kidney	ORPHA:276280
Imerslund-Gräsbeck Syndrome	Angular cheilitis, Poor appetite, Weight loss, Vomiting, Constipation, Failure to thrive, Glossitis	ORPHA:35858
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Bifid scrotum, Laryngeal stenosis, Small scrotum, Bilateral ptosis, Hypoplastic labia minora, Fee...	ORPHA:324540
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Pneumonia, Pustule, Arrhythmia, Corneal perforation, Conjunctival hyperemia, Corneal u...	ORPHA:68
Cartilage-Hair Hypoplasia	Anal stenosis, Aganglionic megacolon, Sparse eyelashes, Malabsorption, Sparse eyebrow, Esophageal...	OMIM:250250
Loeys-Dietz Syndrome 6	Carotid artery dissection, Thoracic aortic aneurysm, Knee osteoarthritis, Varicose veins, Dilatat...	OMIM:619656
Leukocyte Adhesion Deficiency, Type I	Osteomyelitis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Rectal abscess, Periodontitis	OMIM:116920
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Pterygium, Cleft palate	OMIM:225790
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Supraventricular arrhythmia, Retinal arteriolar tortuosity, Raynaud phenomenon, Retinal hemorrhag...	OMIM:611773
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Prominent superficial veins, Anomalous branches of internal carotid ...	ORPHA:363705
Eosinophilic Fasciitis	Myositis, Fasciitis, Arthritis, Weight loss	ORPHA:3165
Pallister-Hall Syndrome	Decreased testicular size, Ptosis, Small scrotum, Hypospadias, Large for gestational age, Precoci...	ORPHA:672
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Thyroiditis, Sclerosing cholangitis, Abnormality o...	ORPHA:64744
Severe Generalized Junctional Epidermolysis Bullosa	Laryngeal stenosis, Recurrent skin infections, Pneumonia, Esophageal stricture, Pneumothorax, Mal...	ORPHA:79404
Dyssegmental Dysplasia, Silverman-Handmaker Type	Cryptorchidism, Pterygium, Cleft palate, Developmental cataract	ORPHA:1865
Congenital Myopathy 21 With Early Respiratory Failure	Lipoid pneumonia	OMIM:620326
Focal Dermal Hypoplasia	Acute hepatic failure, Corneal opacity, Abdominal pain, Ectopia lentis, Aplasia/Hypoplasia of the...	ORPHA:2092
Vaginal Atresia	Cervicitis, Vaginal hematocele, Abdominal pain, Transverse vaginal septum, Uterus didelphys, Bico...	ORPHA:65681
Nodular Non-Suppurative Panniculitis	Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss, Panniculitis, Infla...	ORPHA:33577
Oculodentodigital Dysplasia	Epicanthus, Cataract, Uveitis, Cleft palate, Microcornea, High palate, Blepharophimosis, Arrhythm...	OMIM:164200
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Esophageal stenosis, Feeding difficulties, Anisocoria, Dysphagia, Achalasia, Ptosis	OMIM:615510
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Cho...	OMIM:124000
Hallermann-Streiff Syndrome	Telecanthus, Sparse eyelashes, Sparse eyebrow, Congestive heart failure, High, narrow palate, Cry...	ORPHA:2108
Fg Syndrome Type 1	Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Coarctation of aorta...	ORPHA:93932
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Raynaud phenomenon, Epididymitis, Arthritis, Iritis, Hypopyon	OMIM:109650
Benign Schwannoma	Intestinal polyposis, Abnormality of the liver, Abnormal parotid gland morphology, Abnormal esoph...	ORPHA:252164
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:277900
Fanconi Anemia, Complementation Group L	Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Feeding difficulties, Upslanted palp...	OMIM:614083
Proboscis Lateralis	Abnormal eyebrow morphology, Epicanthus, Cataract, Corneal opacity, Abnormal nasolacrimal system ...	ORPHA:141099
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Cachexia	ORPHA:220295
Oligodontia-Colorectal Cancer Syndrome	Fundic gland polyposis, Adenomatous colonic polyposis, Colon cancer	OMIM:608615
Bardet-Biedl Syndrome 12	Hypogonadism, Vaginal atresia, Hydrometrocolpos, Obesity	OMIM:615989
Mowat-Wilson Syndrome	Bifid scrotum, Cleft hard palate, Asplenia, Gastrointestinal dysmotility, Vomiting, Webbed penis,...	ORPHA:2152
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Septate vagina, Uterus didelphys, Aplasia of the vagina, Aplasia of the uterus, Ptosis	OMIM:146255
Congenital Tracheomalacia	Pneumonia, Esophageal atresia, Partial anomalous pulmonary venous return, Pneumothorax, Tracheoes...	ORPHA:95430
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Cleft hard palate, Asplenia, Webbed penis, Micropenis, Abnormality of the pulmonar...	ORPHA:261537
Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga...	ORPHA:733
Retinal Arteries, Tortuosity Of	Retinal arteriolar tortuosity, Retinal hemorrhage	OMIM:180000
Incontinentia Pigmenti	Cataract, Maculopapular exanthema, Keratitis, Retinal vascular proliferation, Retinal hemorrhage,...	OMIM:308300
Cartilage-Hair Hypoplasia	Hepatomegaly, Epicanthus, Aganglionic megacolon, Malabsorption, Sparse eyebrow, Abnormality of th...	ORPHA:175
Apert Syndrome	Feeding difficulties in infancy, Esophageal atresia, Corneal erosion, Cleft palate, Narrow palate...	ORPHA:87
Eec Syndrome	Entropion, Decreased response to growth hormone stimulation test, Keratitis, Sparse eyebrow, Corn...	ORPHA:1896
Waardenburg Syndrome, Type 1	Telecanthus, White eyelashes, White eyebrow, Synophrys, Blue irides, Aplasia of the vagina, Hypop...	OMIM:193500
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Cataract, Gastroparesis, Intestinal pseudo-obstruction, Weight loss, Dysphagia, Ptosis	OMIM:607459
Isolated Succinate-Coq Reductase Deficiency	Feeding difficulties in infancy, Weight loss	ORPHA:3208
Neu-Laxova Syndrome	Cataract, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash m...	ORPHA:2671
Short Syndrome	Telecanthus, Corneal opacity, Poor appetite, Abnormal pupil morphology, Weight loss, Hypoplasia o...	ORPHA:3163
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cataract, Bowel incontine...	ORPHA:857
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Esophageal atresia, Cry...	ORPHA:93271
Thymic Carcinoma	Palpebral edema, Weight loss	ORPHA:99868
Microphthalmia, Syndromic 2	Hypospadias, Septate vagina, Cryptorchidism, Submucous cleft hard palate, Developmental cataract,...	OMIM:300166
Nephrotic Syndrome, Type 1	Pyloric stenosis, Gastroesophageal reflux, Abdominal distention	OMIM:256300
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Eczema, Cryptorchidism, Abnormality of the orbital region, Upslanted palpebral fissu...	ORPHA:468631
Candidiasis, Familial, 8	Seborrheic dermatitis, Cheilitis, Macroglossia, Chronic oral candidiasis, Blepharitis	OMIM:615527
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Abdominal distention, Microcolon	OMIM:619362
Hydrolethalus	Tracheal atresia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Abnormal fallopian t...	ORPHA:2189
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Feeding difficulties, Developmental cataract, Hypogonadism, Gastroesophageal reflux, Vomiting, Es...	ORPHA:79351
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Hepa...	ORPHA:64
Proteus Syndrome	Central heterochromia, Cataract, Cachexia, Testicular neoplasm, Enlarged polycystic ovaries, Sple...	ORPHA:744
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Skin rash, Eczema, Portal hypertension, Abdominal pa...	OMIM:615688
Arterial Tortuosity Syndrome	Hiatus hernia, Pyloric stenosis, Pulmonary artery stenosis, Myocarditis, Arterial stenosis, Aorti...	ORPHA:3342
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Weight loss	ORPHA:703
Knobloch Syndrome 2	Recurrent respiratory infections, Pyloric stenosis, Patent ductus arteriosus, Abnormal pulmonary ...	OMIM:618458
Pierson Syndrome	Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Retinal hemorrhage, Hy...	OMIM:609049
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Anorexia, Reye syndrome-like epi...	ORPHA:20
Congenital Respiratory-Biliary Fistula	Tracheal stenosis, Abnormality of the liver	ORPHA:2040
Non-Functioning Paraganglioma	Episodic abdominal pain, Nausea, Weight loss	ORPHA:94080
Fusariosis	Lung abscess, Pneumonia, Abnormality of the kidney, Abnormality of the spleen, Peritonitis, Hyper...	ORPHA:228119
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Olmsted Syndrome, X-Linked	Posterior blepharitis, Blepharitis	OMIM:300918
Atelosteogenesis Type Ii	Bilateral cleft palate, Laryngeal stenosis, Epicanthus, Telecanthus, Cleft palate, Pulmonary hypo...	ORPHA:56304
Renal Hypodysplasia/Aplasia 1	Vaginal atresia, Bicornuate uterus, Pulmonary hypoplasia	OMIM:191830
Jung Syndrome	Tracheal stenosis, Recurrent respiratory infections, Telecanthus	ORPHA:2321
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Cataract, Skin rash, Keratitis, Retrobulbar optic ...	ORPHA:90340
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Hepatomegaly, Elevated hepatic transaminase, Skin rash...	ORPHA:50918
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Recurrent respiratory infections, Precocious puberty, Truncal obesity, Narrow palpebral fissure, ...	ORPHA:2637
Elsahy-Waters Syndrome	Bifid scrotum, Anal stenosis, Cataract, Hypospadias, Thick eyebrow, Bilateral cryptorchidism, Syn...	OMIM:211380
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Recurrent respiratory infections, Bilateral cryptorchidism, Partial anomalous ...	OMIM:150230
Cryptogenic Organizing Pneumonia	Pneumothorax, Anorexia, Weight loss	ORPHA:1302
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Down Syndrome	Epicanthus, Aganglionic megacolon, Protruding tongue, Brushfield spots, Pulmonary artery stenosis...	OMIM:190685
Camurati-Engelmann Disease	Hepatomegaly, Cachexia, Anorexia, Feeding difficulties in infancy, Splenomegaly, Hypogonadism, Sl...	ORPHA:1328
Von Willebrand Disease, Type 3	Prolonged bleeding time, Impaired platelet aggregation	OMIM:277480
Familial Glucocorticoid Deficiency	Anorexia, Precocious puberty, Cryptorchidism, Diarrhea, Testicular adrenal rest tumor, Weight los...	ORPHA:361
Van Esch-O'Driscoll Syndrome	Hypogonadotropic hypogonadism, Esophageal atresia, Pulmonary artery stenosis, Tracheoesophageal f...	OMIM:301030
Liposarcoma	Nausea and vomiting, Abdominal pain, Weight loss	ORPHA:69078
Pitt-Hopkins Syndrome	Aganglionic megacolon, Hiatus hernia, Cryptorchidism, Feeding difficulties, Upslanted palpebral f...	ORPHA:2896
Hereditary Pulmonary Alveolar Proteinosis	Acute infectious pneumonia, Crazy paving pattern, Failure to thrive in infancy	ORPHA:264675
Perry Syndrome	Weight loss	ORPHA:178509
Townes-Brocks Syndrome 1	Bifid scrotum, Anal stenosis, Rectoperineal fistula, Small for gestational age, Hypospadias, Bifi...	OMIM:107480
Lethal Congenital Contracture Syndrome 5	Small for gestational age, Subdural hemorrhage, Retinal hemorrhage	OMIM:615368
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Cataract, Anorexia, Ect...	ORPHA:394
Mullerian Aplasia And Hyperandrogenism	Acne, Abnormal external genitalia, Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia ...	OMIM:158330
Vater/Vacterl Association	Laryngeal stenosis, Hypospadias, Esophageal atresia, Tracheoesophageal fistula, Failure to thrive...	OMIM:192350
Gaucher Disease Type 3	Hepatomegaly, Recurrent respiratory infections, Proteinuria, Splenomegaly, Abnormal pulmonary int...	ORPHA:77261
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Weight loss, Vomiting, Fa...	ORPHA:35710
Refractory Anemia With Excess Blasts	Abnormal bleeding, Acute myeloid leukemia, Single lineage myelodysplasia, Retinal hemorrhage, Pal...	ORPHA:86839
Hemophilia B	Hematuria, Prolonged bleeding time, Menometrorrhagia	ORPHA:98879
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Small for gestational age, Hypospadias, Poor appetite, Precocious puberty, High, narrow palate, C...	ORPHA:96182
Thoracolaryngopelvic Dysplasia	Laryngeal stenosis, Slender build	OMIM:187760
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Cleft palate, Ankyloblepharon, Cryptorchidism	ORPHA:1300
Psoriasis-Related Juvenile Idiopathic Arthritis	Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent...	ORPHA:85436
Chand Syndrome	Atelectasis, Ankyloblepharon, Cleft palate, Bifid tongue, Imperforate hymen	ORPHA:1401
Diamond-Blackfan Anemia 7	Patent ductus arteriosus, Cleft palate, Esophagitis, Recurrent otitis media, Tetralogy of Fallot	OMIM:612562
Fanconi Anemia, Complementation Group D2	Small for gestational age, Hypergonadotropic hypogonadism, Esophageal atresia, Cryptorchidism, An...	OMIM:227646
Neuroblastoma, Susceptibility To, 1	Abdominal pain, Diarrhea, Horner syndrome, Weight loss, Failure to thrive	OMIM:256700
9Q33.3Q34.11 Microdeletion Syndrome	Telecanthus, Small scrotum, Highly arched eyebrow, Cryptorchidism, Astigmatism, Constipation, Abn...	ORPHA:495818
Milroy Disease	Varicose veins, Erysipelas, Abnormal venous morphology	ORPHA:79452
Pancreatic insufficiency, combined exocrine	Anal atresia, Exocrine pancreatic insufficiency	OMIM:260450
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Blepharophimosis, Cryptorchidism, Cleft palate, Tracheal stenosi...	OMIM:300712
Neuroocular Syndrome	Synophrys, Lens coloboma, Microcornea, Iris coloboma, Hooded upper eyelid, Highly arched eyebrow,...	OMIM:619539
Addison Disease	Nausea and vomiting, Primary testicular failure, Anorexia, Abdominal pain, Celiac disease, Diarrh...	ORPHA:85138
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Tracheal atresia	ORPHA:3346
Camptodactyly Syndrome, Guadalajara, Type Iii	Telecanthus, Symblepharon	OMIM:611929
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Impaired platelet aggregation	OMIM:614076
Malt Lymphoma	Abnormal nasolacrimal system morphology, B-cell lymphoma, Hyperhidrosis, Weight loss, Posterior u...	ORPHA:52417
Oeis Complex	Intestinal malrotation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Ve...	OMIM:258040
Graves Disease, Susceptibility To, 1	Weight loss	OMIM:275000
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Subglottic stenosis, Intestinal malrotation, Asplenia, Partial anomalous pulmonary venous return,...	OMIM:619657
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Prolonged bleeding time, Impaired platelet aggregation	OMIM:601399
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Sparse eyelashes, Sparse eyebrow, Erythroderma, Tracheal stenosis, Failure to thrive, D...	OMIM:302960
Lyme Disease	Atrioventricular block, Uveitis, Arthritis, Arrhythmia, Infectious encephalitis	ORPHA:91546
C Syndrome	Epicanthus, Failure to thrive in infancy, Female pseudohermaphroditism, Cryptorchidism, Cleft pal...	ORPHA:1308
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Osteomyelitis, Obesity	ORPHA:70591
Autosomal Recessive Cutis Laxa Type 1	Vascular dilatation, Pyloric stenosis, Dilatation of the ventricular cavity, Pneumothorax, Recurr...	ORPHA:90349
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Osteomyelitis, Cerebral hemorrhage, Hepatosplenomegaly, Panuveitis, Panniculiti...	OMIM:301081
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Autosomal Recessive Cutis Laxa Type 2, Classic Type	High palate, Failure to thrive, Downslanted palpebral fissures, Subretinal pigment epithelium hem...	ORPHA:357074
Heterotaxy, Visceral, 5, Autosomal	Bilateral trilobed lung, Intestinal malrotation, Asplenia, Partial anomalous pulmonary venous ret...	OMIM:270100
Camptodactyly Syndrome, Guadalajara Type 3	Telecanthus, Symblepharon, Thick eyebrow	ORPHA:488434
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h...	OMIM:177850
Hand-Foot-Genital Syndrome	Bifid scrotum, Hypospadias, Uterus didelphys, Pyelonephritis, Chordee, Longitudinal vaginal septu...	OMIM:140000
Alacrima, Congenital, Autosomal Dominant	Lacrimal gland hypoplasia, Punctate corneal epithelial erosions, Lacrimal punctal atresia	OMIM:103420
Camptobrachydactyly	Septate vagina	ORPHA:1319
Spondyloepimetaphyseal Dysplasia, Shohat Type	Laryngeal stenosis, Abdominal distention, Premature osteoarthritis, Hepatosplenomegaly, Tracheal ...	ORPHA:93352
Menkes Disease	Gastrointestinal hemorrhage, Nausea and vomiting, Osteomyelitis, Malabsorption, Venous insufficie...	ORPHA:565
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Malnutrition, Weight loss, Pancreatic calcification, Chronic...	ORPHA:103918
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Abnormal pulmonary interstitial morphology, Neoplasm o...	ORPHA:77293
Hurler-Scheie Syndrome	Recurrent respiratory infections, Hepatomegaly, Corneal opacity, Splenomegaly, Tracheal stenosis	OMIM:607015
Ulnar Hemimelia	Osteoarthritis, Antecubital pterygium	ORPHA:93320
Hermansky-Pudlak Syndrome 5	Menorrhagia, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Metrorrhagia	OMIM:614074
Pemphigus Vulgaris	Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:745
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	High, narrow palate, Recurrent pneumonia, Aortic dissection, Arterial dissection, Abnormal venous...	ORPHA:1900
Camptobrachydactyly	Septate vagina	OMIM:114150
Familial Multinodular Goiter	Pleuropulmonary blastoma, Ovarian neoplasm, Colorectal polyposis, Testicular seminoma, Sertoli ce...	ORPHA:276399
Tibial Aplasia-Ectrodactyly Syndrome	Popliteal pterygium	ORPHA:3329
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Bilateral lung agenesis, Tracheal atresia	OMIM:601612
Glomuvenous Malformation	Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation	ORPHA:83454
Brachytelephalangic Chondrodysplasia Punctata	Recurrent respiratory infections, Cataract, Pulmonary artery stenosis, Feeding difficulties, Gast...	ORPHA:79345
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Bilateral ptosis, Cleft palate, Upslanted palpeb...	ORPHA:163979
Chromosome 1P36 Deletion Syndrome, Distal	Epicanthus, Cataract, Abnormal external genitalia, Hypospadias, Blepharophimosis, Feeding difficu...	OMIM:607872
Hennekam Syndrome	Recurrent respiratory infections, Malabsorption, Pyloric stenosis, Splenomegaly, Pulmonary lympha...	ORPHA:2136
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Panniculitis, Weight loss	ORPHA:86884
Oculopharyngodistal Myopathy 1	Bilateral ptosis, Weight loss, High palate, Dysphagia, Ptosis	OMIM:164310
Osteosarcoma	Weight loss	ORPHA:668
Glutaryl-Coa Dehydrogenase Deficiency	Abnormal circulating enzyme concentration or activity, Subdural hemorrhage, Retinal hemorrhage, S...	ORPHA:25
Cinca Syndrome	Arthritis, Skin rash, Uveitis, Hepatosplenomegaly	OMIM:607115
Localized Scleroderma	Fasciitis, Vasculitis, Uveitis, Arthritis, Stroke, Gastroesophageal reflux, Esophagitis, Hashimot...	ORPHA:90289
Acute Promyelocytic Leukemia	Anorexia, Abdominal pain, Diffuse alveolar hemorrhage, Weight loss, Stomatitis	ORPHA:520
Nail-Patella Syndrome	Abnormal iris pigmentation, Antecubital pterygium, Primary congenital glaucoma, Arthritis, Nephri...	ORPHA:2614
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Cachexia, Ectopia lentis...	ORPHA:649
Cinca Syndrome	Hepatomegaly, Retrobulbar optic neuritis, Uveitis, Inflammatory abnormality of the eye, Purpura	ORPHA:1451
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancreas, Ab...	ORPHA:93111
Bleeding Disorder, Platelet-Type, 17	Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Impaired epinephrine-ind...	OMIM:187900
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Tracheal stenosis, Hypoplasia of penis, Iris coloboma	OMIM:601427
Gabriele-De Vries Syndrome	Ptosis, Telecanthus, Small for gestational age, Lacrimal duct stenosis, Oral-pharyngeal dysphagia...	ORPHA:506358
Renal, Genital, And Middle Ear Anomalies	Vaginal atresia	OMIM:267400
Multiple Myeloma	Splenomegaly, Pleural effusion, Functional abnormality of the gastrointestinal tract, Weight loss	ORPHA:29073
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Poor appetite, Nasogastric tube feeding in infancy, Weight loss...	ORPHA:2020
Keutel Syndrome	Recurrent respiratory infections, Pulmonary artery stenosis, Recurrent sinusitis, Recurrent otiti...	ORPHA:85202
Charge Syndrome	Ptosis, Anal stenosis, Cataract, Hypogonadotropic hypogonadism, External genital hypoplasia, Esop...	OMIM:214800
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology	ORPHA:743
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie...	ORPHA:90796
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Cataract, Feeding difficulties, Esophagitis, Achalas...	OMIM:615356
Geleophysic Dysplasia 3	Subglottic stenosis, Hepatomegaly, Pneumonia, Tracheal stenosis	OMIM:617809
Hereditary Late-Onset Parkinson Disease	Chronic constipation, Weight loss, Dysphagia	ORPHA:411602
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Recurrent respiratory infections, Renal insufficiency, Proteinuria, Abnormal pulmonary interstiti...	OMIM:614748
Beta-Ketothiolase Deficiency	Hepatomegaly, Anorexia, Diarrhea, Weight loss, Vomiting	ORPHA:134
Neonatal Inflammatory Skin And Bowel Disease	Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,...	ORPHA:294023
Loeffler Endocarditis	Pericarditis, Weight loss	ORPHA:75566
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Laryngeal stenosis, Premature osteoarthritis, Small for gestational age	ORPHA:93360
Occipital Horn Syndrome	Gastroparesis, Hiatus hernia, Venous insufficiency, High, narrow palate, Vascular dilatation, Jau...	ORPHA:198
Angioosteohypotrophic Syndrome	Prominent superficial veins, Venous malformation	ORPHA:75508
Kanzaki Disease	Telangiectasia of the oral mucosa, Lip telangiectasia, Tortuosity of conjunctival vessels, Lacuna...	OMIM:609242
Omodysplasia 1	Epicanthus, Cryptorchidism, Popliteal pterygium, Narrow palpebral fissure, Blepharophimosis, Hema...	OMIM:258315
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage	OMIM:264420
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Maternal Phenylketonuria	Esophageal atresia, Epicanthus, High palate, Bilateral ptosis	ORPHA:2209
Rheumatoid Arthritis	Rheumatoid arthritis, Weight loss	OMIM:180300
Peters-Plus Syndrome	Hypoplasia of the vagina, Cataract, Hypospadias, Bilobate gallbladder, Feeding difficulties in in...	OMIM:261540
Diets-Jongmans Syndrome	Feeding difficulties in infancy, Cryptorchidism, Hypospadias, Duodenal atresia	OMIM:618846
Macular Degeneration, Age-Related, 1	Macular hemorrhage	OMIM:603075
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss	OMIM:188580
Cornelia De Lange Syndrome	Cataract, Intestinal malrotation, Curly eyelashes, Highly arched eyebrow, Pyloric stenosis, Synop...	ORPHA:199
Igg4-Related Retroperitoneal Fibrosis	Nausea and vomiting, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, A...	ORPHA:49041
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Subglottic stenosis, Ptosis, Cataract, Hypospadias, Highly arched eyebrow, Synophrys, Obesity, Ma...	ORPHA:444077
Craniofrontonasal Syndrome	Telecanthus, Cryptorchidism, Cleft palate, Downslanted palpebral fissures, Axillary pterygium	OMIM:304110
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss	OMIM:613239
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Synophrys, High palate, Chronic otitis media, Micropenis, Hepatic steatosis, Medial flaring of th...	OMIM:619503
Idiopathic Aplastic Anemia	Retinal hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding	ORPHA:88
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Subglottic stenosis, Small for gestational age, Feeding difficulties, Macroglossia, High palate	OMIM:614501
Juvenile Nephropathic Cystinosis	Elevated alkaline phosphatase of bone origin, Hypovolemia, Abnormal cornea morphology, Corneal cr...	ORPHA:411634
Familial Multiple Nevi Flammei	Venous insufficiency, Arteriovenous malformation, Intracranial hemorrhage	ORPHA:624
Neurooculorenal Syndrome	Subglottic stenosis, Iris atrophy, Intestinal malrotation, Highly arched eyebrow, Cryptorchidism,...	OMIM:620305
Atelosteogenesis, Type I	Laryngeal stenosis, Protuberant abdomen, Cleft palate, Cryptorchidism	OMIM:108720
Leukonychia Totalis	Abnormal eyelash morphology, Adenoma sebaceum, Blepharitis	ORPHA:2387
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hypoplastic labia majora, Vaginal atresia, Fused labia minora	OMIM:207410
Acute Monoblastic/Monocytic Leukemia	Anorexia, Weight loss	ORPHA:514
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermati...	ORPHA:83617
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Precocious pubert...	ORPHA:90794
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Enthesitis, Uveitis, Weight loss, ...	ORPHA:85408
Mucolipidosis Type Ii	Recurrent respiratory infections, Epicanthus, Splenomegaly, Weight loss, Hepatosplenomegaly, Shal...	ORPHA:576
Infantile Nephropathic Cystinosis	Abnormal cornea morphology, Failure to thrive, Abnormality of thyroid physiology, Corneal crystals	ORPHA:411629
Congenital Pulmonary Valvar Stenosis	Laryngeal stenosis	ORPHA:3189
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Perry Syndrome	Weight loss	OMIM:168605
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Epicanthus, Telecanthus, Hypospadias, Cryptorchidism, Feeding difficulties, Hydrocele testis, Nar...	OMIM:619522
Holoprosencephaly 13, X-Linked	Submucous cleft hard palate, Cleft palate, Gastroesophageal reflux, Median cleft palate, Duodenal...	OMIM:301043
Adrenocortical Carcinoma	Abdominal pain, Increased body weight, Lung adenocarcinoma, Weight loss	ORPHA:1501
Acrofacial Dysostosis 1, Nager Type	Subglottic stenosis, Aganglionic megacolon, Sparse lower eyelashes, Velopharyngeal insufficiency,...	OMIM:154400
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Hypospadias, Splenomegaly, Hepatosplenomegaly, Weight loss, Micropenis	OMIM:613673
Parkes Weber Syndrome	Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V...	ORPHA:90307
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Upper eyelid entropion, Aplasia of the vagina, Aplasia of the uterus, Gastrostomy tube feeding in...	ORPHA:457284
Iniencephaly	Anal atresia, Duodenal atresia	ORPHA:63259
Microphthalmia, Syndromic 3	Cataract, Hypogonadotropic hypogonadism, Hypospadias, Sclerocornea, Esophageal atresia, Cryptorch...	OMIM:206900
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Weight loss	ORPHA:97289
Pauci-Immune Glomerulonephritis	Abnormality of the gastrointestinal tract, Glomerulonephritis, Crescentic glomerulonephritis, Scl...	ORPHA:93126
Sporadic Pheochromocytoma/Secreting Paraganglioma	Episodic abdominal pain, Nausea, Weight loss	ORPHA:276621
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Intraalveolar phospholipid accumulation, Weight loss	ORPHA:747
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Arteriovenous malformation	ORPHA:137608
Poems Syndrome	Pleural effusion, Hypogonadism, Weight loss	ORPHA:2905
Cystinosis, Nephropathic	Hepatomegaly, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Splenomegaly, Corneal crys...	OMIM:219800
Livedoid Vasculopathy	Superficial dermal perivascular inflammatory infiltrate, Abnormal capillary morphology, Recurrent...	ORPHA:542643
Sacral Defect With Anterior Meningocele	Constipation, Rectal abscess	OMIM:600145
Hereditary Pheochromocytoma-Paraganglioma	Episodic abdominal pain, Weight loss, Aniridia, Retinal capillary hemangioma, Nausea	ORPHA:29072
Acute Adrenal Insufficiency	Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Weight loss, Constipation, Recurrent acu...	ORPHA:95409
Renal Nutcracker Syndrome	Nausea, Abdominal pain, Vulval varicose vein, Weight loss, Varicocele	ORPHA:71273
Kyphomelic Dysplasia	Pterygium, Cleft palate	OMIM:211350
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Recurrent otitis media, Antecubital pterygium	ORPHA:2502
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Acne, Neoplasm of the stomach...	ORPHA:99889
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abdominal distention, Vomiting, Congenital pyloric atresia	ORPHA:158684
Pallister-Killian Syndrome	Small scrotum, Anteriorly placed anus, Bifid uvula, Hypospadias, Sparse eyebrow, Cryptorchidism, ...	OMIM:601803
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Epicanthus, Hypospadias, Cryptorchidism, Antecubital pterygium, Popliteal pterygiu...	OMIM:609945
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Cylindru...	OMIM:233450
Pmm2-Cdg	Elevated hepatic transaminase, Proteinuria, Hypogonadotropic hypogonadism, Abnormal liver parench...	ORPHA:79318
Familial Drusen	Macular hemorrhage	ORPHA:75376
Larsen Syndrome	Corneal opacity, Cryptorchidism, Cleft palate, Shallow orbits, Tracheal stenosis	OMIM:150250
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Restrictive Dermopathy	Patent ductus arteriosus, Submucous cleft hard palate, Ascending tubular aorta aneurysm, Pulmonar...	ORPHA:1662
Tropical Endomyocardial Fibrosis	Splenomegaly, Hepatomegaly, Malnutrition, Cachexia	ORPHA:75565
Foix-Alajouanine Syndrome	Bowel incontinence, Venous malformation, Arteriovenous fistula, Colonic inertia, Myelitis	ORPHA:79093
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Diarrhea, Small for gestational age, Weight loss	ORPHA:424
Knobloch Syndrome	Pyloric stenosis, Patent ductus arteriosus	ORPHA:1571
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Bilateral ptosis, Weight loss, Pancreatic hypoplasia, Reduced pancreatic beta ...	ORPHA:99885
Pendred Syndrome	Tracheal stenosis	ORPHA:705
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Female hypogonadism, Corneal opacity, Nocturnal lagophthalmos, Osteoarthritis, Lo...	ORPHA:740
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Bifid uterus, Abnormal lung lobation, Cleft palate, Tracheal steno...	OMIM:236680
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Testicular teratoma, Weight loss	ORPHA:764
Adams-Oliver Syndrome 1	Pulmonary artery stenosis, Imperforate hymen, Cleft palate	OMIM:100300
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Tsh-Secreting Pituitary Adenoma	Nausea and vomiting, Hypogonadotropic hypogonadism, Female hypogonadism, Weight loss, Hypogonadis...	ORPHA:91347
Lethal Congenital Contracture Syndrome 9	Antecubital pterygium, Axillary pterygium	OMIM:616503
Fraser-Like Syndrome	Subglottic stenosis, Ovarian cyst	OMIM:229230
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Neu-Laxova Syndrome 1	Ablepharon, Cataract, Absent eyelashes, Cryptorchidism, Cleft palate, Pterygium	OMIM:256520
Choreoacanthocytosis	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Protruding tongue, S...	ORPHA:2388
Fraser Syndrome 3	Hypoplasia of penis, Small scrotum, Abnormal lung lobation, Cryptophthalmos, Tracheal atresia	OMIM:617667
Familial Gestational Hyperthyroidism	Diarrhea, Weight loss	ORPHA:99819
Cryptococcosis	Pneumonia, Nodular pattern on pulmonary HRCT, Peritonitis, Cirrhosis, Pleural effusion, Prostatitis	ORPHA:1546
Familial Thrombocytosis	Splenomegaly, Weight loss	ORPHA:71493
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Venous malformation	OMIM:613089
Thyrotoxic Periodic Paralysis	Constipation, Obesity, Weight loss	ORPHA:79102
Geleophysic Dysplasia 1	Tracheal stenosis, Hepatomegaly, Upslanted palpebral fissure	OMIM:231050
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Clapo Syndrome	Varicose veins, Venous malformation	ORPHA:168984
Generalized Arterial Calcification Of Infancy	Transient ischemic attack, Elevated alkaline phosphatase of bone origin, Failure to thrive in inf...	ORPHA:51608
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Venous malformation	OMIM:612918
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Craniofacial Microsomia 1	Blepharophimosis, Upper eyelid coloboma, Cleft palate, Limbal dermoid, Ptosis	OMIM:164210
Microphthalmia With Limb Anomalies	Venous insufficiency, High palate, Cleft palate	ORPHA:1106
Familial Cerebral Cavernous Malformation	Venous malformation, Episodic vomiting, Cerebral hemorrhage	ORPHA:221061
Angioedema, Hereditary, 4		OMIM:619360

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 Plg

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 Plg.

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

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MGI Allele	Allele Type	Produced
Plg^{em1(IMPC)Ccpcz}	Exon Deletion	Mice

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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