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 (1599 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, Nephritis, Periodontitis, Recurrent upper respiratory tract infections, Conjuncti...	OMIM:217090
Hypoplasminogenemia	Duodenal ulcer, Abnormality of the ovary, Periodontitis, Abnormal fallopian tube morphology, Cerv...	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
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Short stature, Splenomegaly, Hepatic steatosis, Hypertriglyceride...	OMIM:614480
Squamous Cell Carcinoma Of The Anal Canal	Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Lymphadenopathy, Neo...	ORPHA:424019
Von Willebrand Disease, X-Linked Form	Prolonged bleeding time	OMIM:314560
Generalized Eruptive Keratoacanthoma	Keratoconjunctivitis sicca, Dysphagia, Ectropion, Abnormal cornea morphology, Conjunctivitis	ORPHA:411777
Nk-Cell Enteropathy	Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Constipation...	ORPHA:263665
Axin2-Related Attenuated Familial Adenomatous Polyposis	Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Colon cancer	ORPHA:401911
Ring Dermoid Of Cornea	Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun...	OMIM:180550
Vernal Keratoconjunctivitis	Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal neovascularization, Punctate...	ORPHA:70476
Solitary Rectal Ulcer Syndrome	Bloody mucoid diarrhea, Bloody diarrhea, Rectal prolapse, Tenesmus, Stercoral ulcer, Intermittent...	ORPHA:209964
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Cachexia, Ptosis, Malabsorption, Chronic diarrhea, Steatorrhea	ORPHA:3217
Limbal Stem Cell Deficiency	Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith...	ORPHA:171673
Visceral Myopathy 2	Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G...	OMIM:619350
Athrombia, Essential	Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhesion	OMIM:209050
Atopic Keratoconjunctivitis	Keratoconjunctivitis sicca, Keratitis, Abnormal eyelid morphology, Chemosis, Corneal opacity, Los...	ORPHA:163934
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Ectropion, Hemangioma, Synophrys, Recurrent otitis media, Downslanted palpebral fissures, Long pa...	OMIM:602562
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Esophageal ulceration, Gastric ulcer, Impaired platelet aggregation	OMIM:618372
Congenital Non-Bullous Ichthyosiform Erythroderma	Erythroderma, Corneal erosion, Ectropion, Failure to thrive, Keratitis, Hypohidrosis	ORPHA:79394
Peutz-Jeghers Syndrome	Rectal prolapse, Gastrointestinal infarctions, Stomach cancer, Vomiting, Neoplasm of the rectum, ...	ORPHA:2869
Platelet Aggregation, Spontaneous	Abnormal platelet function, Spontaneous platelet aggregation	OMIM:173400
Lipoma Of The Conjunctiva	Conjunctival lipoma, Lipoma	OMIM:151700
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Folliculitis, Ectropion, Corneal dystrophy, Keratitis, Sparse and thin eyebrow,...	OMIM:308800
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:619658
Carcinoma Of Esophagus	Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Weight loss, Barrett esophagus, Ob...	ORPHA:70482
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Cachexia, Gastrointestinal dysmotility, Abdominal distention, Slender build, Weight loss, Malabso...	OMIM:613662
Hyperlipoproteinemia, Type Id	Failure to thrive, Hepatomegaly, Colitis, Splenomegaly	OMIM:615947
Pseudo-Von Willebrand Disease	Prolonged bleeding time	OMIM:177820
Xeroderma Pigmentosum, Complementation Group D	Keratoconjunctivitis sicca, Telangiectasia, Ectropion, Keratitis, Cataract, Corneal neovasculariz...	OMIM:278730
Autoinflammation With Arthritis And Dyskeratosis	Keratoconjunctivitis sicca, Hepatomegaly, Failure to thrive, Punctate keratitis, Thyroiditis, Uve...	OMIM:617388
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma	Abnormal intestine morphology, Growth delay, Hepatic fibrosis, Cirrhosis, Cholestasis	OMIM:609313
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Lymphangiectasis, Villous atrophy, Hepatic fibrosis, Failure to thrive, Cirrhosis, ...	OMIM:602579
Xeroderma Pigmentosum, Variant Type	Cutaneous melanoma, Telangiectasia, Ectropion, Basal cell carcinoma, Keratitis, Squamous cell car...	OMIM:278750
Dermatitis, Atopic	Atopic dermatitis, Eczema, Allergic rhinitis, Recurrent skin infections, Cataract, Keratoconus, C...	OMIM:603165
Autosomal Dominant Keratitis	Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency...	ORPHA:2334
Idiopathic Pulmonary Fibrosis	Honeycomb lung, Bronchiectasis, Abnormal pulmonary interstitial morphology, Reticular pattern on ...	ORPHA:2032
Xeroderma Pigmentosum, Complementation Group E	Telangiectasia, Ectropion, Basal cell carcinoma, Squamous cell carcinoma of the skin, Keratitis, ...	OMIM:278740
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse	OMIM:176780
Ganglioneuroma	Colorectal polyposis, Abnormality of the orbital region, Functional intestinal obstruction, Episo...	ORPHA:251992
Hemochromatosis, Neonatal	Increased serum iron, Abnormality of iron homeostasis, Hepatocellular necrosis, Hepatic fibrosis,...	OMIM:231100
Hemochromatosis, Type 2B	Increased serum iron, Hepatomegaly, Hepatic fibrosis, Elevated transferrin saturation, Splenomega...	OMIM:613313
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Nausea and vomiting, Dysphagia, Abnormal esophagus physiology, Esophageal neoplasm, Abnormal larg...	ORPHA:2198
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Chronic Graft Versus Host Disease	Fasciitis, Diarrhea, Abdominal pain, Phimosis, Esophageal ulceration, Abnormal esophagus morpholo...	ORPHA:99921
Tatsumi Factor Deficiency	Prolonged bleeding time	OMIM:272650
Wolfram Syndrome 2	Oligomenorrhea, Gastric ulcer, Impaired collagen-induced platelet aggregation, Primary amenorrhea...	OMIM:604928
Plasminogen Deficiency, Type I	Duodenal ulcer, Nephritis, Periodontitis, Recurrent upper respiratory tract infections, Conjuncti...	OMIM:217090
Masp2 Deficiency	Recurrent pneumonia, Ulcerative colitis	OMIM:613791
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased total iron binding capacity, Hyperbili...	OMIM:616278
Barrett Esophagus	Barrett esophagus, Esophageal ulceration, Gastroesophageal reflux, Esophageal carcinoma	OMIM:614266
Progeroid Short Stature With Pigmented Nevi	Allergic conjunctivitis, Hypospadias, Allergic rhinitis, Small for gestational age, Vomiting, Cho...	OMIM:176690
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Hepatic fibrosis, Hyperammonemia, Cirrhosis, Splenomegaly	OMIM:271500
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Arthritis, Oti...	OMIM:601457
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer	OMIM:126840
Diarrhea 8, Secretory Sodium, Congenital	Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium	OMIM:616868
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abdominal distention, Small intestinal dysmotility, Diarrhea, Abdominal pain, Vomiting, Hypogonad...	ORPHA:298
Juvenile Polyposis Syndrome	Rectal prolapse, Neoplasm of the stomach, Hypokalemia, Failure to thrive, Multiple gastric polyps...	OMIM:174900
Cystic Fibrosis	Hepatomegaly, Malabsorption, Recurrent respiratory infections, Pulmonary fibrosis, Exocrine pancr...	ORPHA:586
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Hepatocellul...	ORPHA:369
Xeroderma Pigmentosum, Complementation Group C	Cutaneous melanoma, Telangiectasia, Ectropion, Basal cell carcinoma, Squamous cell carcinoma of t...	OMIM:278720
Nasolacrimal Duct Cyst	Narrow palpebral fissure, Dacryocystocele, Corneal astigmatism, Dacryocystitis, Red eye, Nasolacr...	ORPHA:141083
Lymphedema-Distichiasis Syndrome	Cleft palate, Tubulointerstitial nephritis, Corneal erosion, Ectropion, Ptosis, Fibrosarcoma, Rec...	ORPHA:33001
Menke-Hennekam Syndrome 2	Duodenal ulcer, Upslanted palpebral fissure, Epicanthus, Short palpebral fissure, Recurrent upper...	OMIM:618333
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Hepatic fibrosis, Esophageal varix, Bile duct proliferation, Cirrhosis, Elevated ci...	OMIM:619662
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Kid Syndrome	Trichilemmoma, Neoplasm of the skin, Sparse eyelashes, Corneal erosion, Acne inversa, Limbal stem...	ORPHA:477
Blue Rubber Bleb Nevus	Rectal prolapse, Volvulus, Abnormality of the liver, Intussusception, Intestinal bleeding	OMIM:112200
Aa Amyloidosis	Hepatomegaly, Vomiting, Nausea, Nephrotic syndrome, Abnormality of the kidney, Malabsorption, Chr...	ORPHA:85445
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer	OMIM:126850
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Impaired platelet aggregation	OMIM:615888
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Adenocarcinoma Of The Anal Canal	Rectal prolapse, Neoplasm of the rectum, Lymphadenopathy, Neoplasm of the liver, Intestinal bleed...	ORPHA:424016
Ficolin 3 Deficiency	Necrotizing enterocolitis, Recurrent lower respiratory tract infections	OMIM:613860
Agammaglobulinemia 6, Autosomal Recessive	Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, Conjunctivitis	OMIM:612692
Venous Malformations, Multiple Cutaneous And Mucosal	Venous malformation, Intestinal bleeding	OMIM:600195
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Pancreatic cysts, Esophageal varix, Pulmonary hypoplasia, Hepatic cysts, Tubulointe...	OMIM:263200
Zollinger-Ellison Syndrome	Duodenal ulcer, Peptic ulcer, Nausea, Weight loss, Esophagitis, Episodic abdominal pain, Intestin...	ORPHA:913
Arteriosclerosis, Severe Juvenile	Arteriosclerosis, Central retinal vessel vascular tortuosity, Gastric ulcer, Calcification of the...	OMIM:208060
Autosomal Agammaglobulinemia	Sinusitis, High palate, Bronchiectasis, Chronic otitis media, Failure to thrive, Verrucae, Hepati...	ORPHA:33110
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Splenomegaly, R...	OMIM:300635
Oculogastrointestinal Muscular Dystrophy	Cachexia, Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Ptosis, Abdominal di...	ORPHA:1876
Xeroderma Pigmentosum, Complementation Group A	Telangiectasia, Ectropion, Keratitis, Entropion, Melanoma, Conjunctivitis	OMIM:278700
Laryngotracheoesophageal Cleft Type 4	Tracheal stenosis, Abnormality of the spleen, Cachexia, Abnormality of mesentery morphology, Trac...	ORPHA:93941
Colonic Varices Without Portal Hypertension	Intestinal bleeding, Colonic varices	OMIM:120440
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia, Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:2111
Tangier Disease	Hepatomegaly, Ectropion, Cicatricial ectropion, Myocardial infarction, Opacification of the corne...	OMIM:205400
Interstitial Lung Disease 2	Elevated bronchoalveolar lavage fluid neutrophil proportion, Cirrhosis, Pulmonary fibrosis, Usual...	OMIM:178500
Agammaglobulinemia 1, Autosomal Recessive	Sinusitis, Pneumonia, Bronchiectasis, Failure to thrive, Recurrent otitis media, Crohn's disease,...	OMIM:601495
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Weight loss, Intestinal obstruction, Crohn's disease, Recurr...	OMIM:266600
Retinitis Pigmentosa 89	Hepatic fibrosis, Esophageal varix, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile...	OMIM:618955
Immunodeficiency, Common Variable, 6	Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Glomeru...	OMIM:613496
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Lysosomal Acid Lipase Deficiency	Esophageal varix, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steatorrhea, Portal hypertensi...	OMIM:278000
Cronkhite-Canada Syndrome	Hepatomegaly, Cachexia, Anorexia, Stomach cancer, Gastrointestinal carcinoma, Furrowed tongue, Ma...	ORPHA:2930
Idiopathic Achalasia	Dysphagia, Recurrent aspiration pneumonia, Weight loss, Malnutrition, Gastroesophageal reflux, Br...	ORPHA:930
Anal Sphincter Myopathy, Internal	Abnormality of the anus, Constipation	OMIM:105565
Inflammatory Bowel Disease 29	Crohn's disease, Ulcerative colitis	OMIM:618077
Epidermolysis Bullosa Acquisita	Pruritus, Inflammation of the large intestine, Abdominal pain	ORPHA:46487
Luo-Schoch-Yamamoto Syndrome	Highly arched eyebrow, Almond-shaped palpebral fissure, Failure to thrive, Recurrent otitis media...	OMIM:619460
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Chronic mucocutaneous candidiasis, Melena, Recurrent pneumonia, Cataract, Opacificatio...	OMIM:158310
Pseudomyxoma Peritonei	Nausea and vomiting, Inflammation of the large intestine, Weight loss, Abnormality of the periton...	ORPHA:26790
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Villous atrophy, Hepatic fibrosis, Small for gestational age, Hyperlipidemia, Abnor...	ORPHA:567983
Inflammatory Bowel Disease 28, Autosomal Recessive	Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia	OMIM:613148
De Sanctis-Cacchione Syndrome	Telangiectasia, Ectropion, Keratitis, Entropion, Melanoma, Conjunctivitis	OMIM:278800
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Diarrhea, Abdominal pain, Br...	OMIM:619381
Juvenile Temporal Arteritis	Allergic rhinitis, Conjunctivitis	ORPHA:26137
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Bacterial endocarditis, Cachexia, Abnormality of the spleen, Gastric ulcer, Esophageal varix, Azo...	ORPHA:2072
Nephronophthisis 16	Hepatic fibrosis, Nephronophthisis, Polycystic kidney dysplasia, Cholestasis, Renal insufficiency...	OMIM:615382
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Failure to thrive, Splenomegaly, In...	OMIM:618495
Inflammatory Bowel Disease (Crohn Disease) 30	Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh...	OMIM:619079
Immunodeficiency, Common Variable, 11	Inflammation of the large intestine, Mucoid diarrhea, Failure to thrive, Crohn's disease, Recurre...	OMIM:615767
Mantle Cell Lymphoma	Weight loss, Anorexia, Splenomegaly, Abnormality of the gastrointestinal tract	ORPHA:52416
Retinal Venous Beading	Nephritis, Retinal neovascularization, Vitreous hemorrhage, Saccular conjunctival dilatations, Ab...	OMIM:180080
Desmoplastic Small Round Cell Tumor	Nausea and vomiting, Cachexia, Ovarian neoplasm, Neoplasm of the lung, Hepatomegaly, Abdominal di...	ORPHA:83469
Malignant Atrophic Papulosis	Abnormal conjunctiva morphology, Constrictive pericarditis, Gastrointestinal hemorrhage, Gastroin...	OMIM:602248
Phacoanaphylactic Uveitis	Conjunctival hyperemia, Retinal arteritis, Hypopyon, Corneal keratic precipitates, Posterior uvei...	ORPHA:209959
African Iron Overload	Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe...	ORPHA:139507
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Blepharo-Cheilo-Odontic Syndrome	Bilateral cleft lip and palate, Abnormal eyelid morphology, Anal atresia, Euryblepharon, Distichi...	ORPHA:1997
Porphyria Cutanea Tarda	Abnormal erythrocyte enzyme level, Increased fecal porphyrin, Elevated hepatic iron concentration...	ORPHA:101330
Mpi-Cdg	Hepatomegaly, Hepatic fibrosis, Failure to thrive, Decreased liver function, Gastrointestinal hem...	ORPHA:79319
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hyp...	OMIM:603471
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst...	OMIM:208540
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Vomiting, Ptosis, Gastrointestinal dysmotility, Weight loss, Intestinal perforation, Sl...	OMIM:603041
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Bloody diarrhea, Ulcerative colitis	OMIM:619398
Wolman Disease	Nausea and vomiting, Cachexia, Hepatomegaly, Esophageal varix, Abdominal distention, Splenomegaly...	ORPHA:75233
Harlequin Ichthyosis	Sudden cardiac death, Erythroderma, Cataract, Ectropion	ORPHA:457
Peutz-Jeghers Syndrome	Rectal prolapse, Precocious puberty with Sertoli cell tumor, Biliary tract abnormality, Gastroint...	OMIM:175200
Immunodeficiency, Common Variable, 2	Hepatomegaly, Bronchiectasis, Recurrent otitis media, Neoplasm, Lymphoma, Recurrent pneumonia, Re...	OMIM:240500
Wolfram Syndrome	Feeding difficulties in infancy, Gastric ulcer, Abnormality of mesentery morphology, Malabsorptio...	ORPHA:3463
Neonatal Hemochromatosis	Prolonged neonatal jaundice, Increased circulating ferritin concentration, Congenital hepatic fib...	ORPHA:446
Juvenile Polyposis Of Infancy	High, narrow palate, Cachexia, Rectal prolapse, Freckled genitalia, Adenomatous colonic polyposis...	ORPHA:79076
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3	Usual interstitial pneumonia, Pulmonary fibrosis	OMIM:616373
Renpenning Syndrome	Hypospadias, High, narrow palate, Cachexia, Cleft palate, Thin eyebrow, Upslanted palpebral fissu...	ORPHA:3242
Rotor Syndrome	Jaundice, Conjunctival icterus, Intermittent jaundice, Abnormal enzyme/coenzyme activity	ORPHA:3111
X-Linked Agammaglobulinemia	Sinusitis, Recurrent cutaneous abscess formation, Chronic otitis media, Failure to thrive, Weight...	ORPHA:47
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Secondary Short Bowel Syndrome	Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Failure to ...	ORPHA:95427
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Sparse eyelashes, Folliculitis, Keratitis, Cataract, Sparse and thin eyebrow, Blepharitis, Conjun...	OMIM:612843
Immunodeficiency 46	Failure to thrive, Chronic oral candidiasis, Conjunctivitis	OMIM:616740
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Glycogen Storage Disease Vi	Hepatomegaly, Hyperlipidemia, Increased hepatic glycogen content, Hypercholesterolemia, Postnatal...	OMIM:232700
Lowe-Kohn-Cohen Syndrome	Anorectal anomaly, Anal atresia	ORPHA:2408
Tetrasomy 12P	Cachexia, Ptosis, Upslanted palpebral fissure, Telecanthus, Abnormal soft palate morphology, Anal...	ORPHA:884
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Small for gestational age, Colitis, Failure to thrive, Hepatitis, ...	OMIM:614602
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Hepatomegaly, Skin rash, Conjunctivitis	OMIM:603552
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Erythroderma, Failure to thrive, Cirrhosis, Keratoconus, Conjunctivitis	OMIM:242150
Chanarin-Dorfman Syndrome	Hepatomegaly, Subcapsular cataract, Ectropion, Hepatic steatosis	OMIM:275630
Periodic Fever, Familial, Autosomal Dominant	Conjunctival hyperemia, Hepatomegaly, Myositis, Oligoarthritis, Hepatic amyloidosis, Gastrointest...	OMIM:142680
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly	OMIM:616719
Odontoma-Dysphagia Syndrome	Dysphagia, Abnormal esophagus morphology	OMIM:164330
Palmoplantar Carcinoma, Multiple Self-Healing	Squamous cell carcinoma, Corneal neovascularization, Limbal stem cell deficiency, Carcinoma	OMIM:615225
Retinal Dystrophy With Or Without Extraocular Anomalies	Pulmonary fibrosis, Secondary amenorrhea, Premature ovarian insufficiency	OMIM:617175
Glycogen Storage Disease Iii	Hepatomegaly, Hepatic fibrosis, Hyperlipidemia, Short stature, Elevated circulating creatine kina...	OMIM:232400
Anterior Segment Dysgenesis 6	Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo...	OMIM:617315
5-Oxoprolinase Deficiency	Diarrhea, Abdominal pain, Vomiting, Enterocolitis	OMIM:260005
Chromomycosis	Keratoconjunctivitis sicca, Multiple cutaneous malignancies, Ectropion, Keratitis, Eyelid retract...	ORPHA:182
Hypoplasminogenemia	Duodenal ulcer, Abnormality of the ovary, Periodontitis, Abnormal fallopian tube morphology, Cerv...	ORPHA:722
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Elevated circulating alanine aminotransferase concentration, Hepatic bridging fibrosis, Increased...	OMIM:613759
Pfapa Syndrome	Nausea and vomiting, Hepatomegaly, Infectious encephalitis, Weight loss, Malabsorption, Arthritis...	ORPHA:42642
Aniridia 1	Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,...	OMIM:106210
Glanzmann Thrombasthenia 2	Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Impaired collagen-in...	OMIM:619267
Anus, Imperforate	Ectopic anus, Anal atresia	OMIM:301800
Immunodeficiency, Common Variable, 3	Recurrent otitis media, Recurrent sinusitis, Conjunctivitis	OMIM:613493
Poikiloderma With Neutropenia	Recurrent otitis media, Increased circulating lactate dehydrogenase concentration, Recurrent pneu...	OMIM:604173
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Weight loss, Diarrhea, Abdominal pain, Hematochezia	OMIM:191390
Bare Lymphocyte Syndrome, Type Ii	Cholangitis, Infectious encephalitis, Villous atrophy, Biliary tract abnormality, Protracted diar...	OMIM:209920
Isolated Congenital Hypoglossia/Aglossia	Cleft palate, Feeding difficulties, Nasogastric tube feeding in infancy, Microglossia, Gastrostom...	ORPHA:141152
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Nodular regenerative hyperplasia of liver, Hepatosplenomegaly, Abnormality of the hepatic vascula...	ORPHA:210136
Xeroderma Pigmentosum	Telangiectasia, Ectropion, Failure to thrive, Ankyloblepharon, Conjunctival telangiectasia, Telan...	ORPHA:910
Hepatoportal Sclerosis	Esophageal varix, Hepatocellular carcinoma, Hyperbilirubinemia, Nodular regenerative hyperplasia ...	ORPHA:64743
Acrodermatitis Enteropathica	Pustule, Corneal erosion, Cheilitis, Failure to thrive, Weight loss, Furrowed tongue, Abnormal ey...	ORPHA:37
Cystic Fibrosis	Hepatomegaly, Rectal prolapse, Bronchiectasis, Failure to thrive, Recurrent bronchopulmonary infe...	OMIM:219700
Nephronophthisis 19	Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis	OMIM:616217
Retinopathy Of Prematurity	Abnormal retinal vascular morphology, Retinal arteriolar tortuosity, Vitreous hemorrhage, Small f...	ORPHA:90050
Inflammatory Bowel Disease 25, Autosomal Recessive	Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis	OMIM:612567
Fadd-Related Immunodeficiency	Decreased liver function, Pulmonary artery atresia, Hepatic fibrosis	ORPHA:306550
Hereditary Mucoepithelial Dysplasia	Hematuria, Furrowed tongue, Anorectal anomaly, Tracheoesophageal fistula, Pulmonary fibrosis, Rec...	ORPHA:1839
Epidermolysis Bullosa Junctionalis With Pyloric Atresia	Axillary pterygium, Congenital pyloric atresia, Esophageal atresia, Ectropion	OMIM:226730
Fanconi Anemia, Complementation Group R	Anal atresia	OMIM:617244
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4	Honeycomb lung, Pulmonary fibrosis	OMIM:616371
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease,...	OMIM:616629
Serrated Polyposis Syndrome	Colorectal polyposis, Adenomatous colonic polyposis, Biliary tract neoplasm, Pancreatic adenocarc...	ORPHA:157798
Immunodeficiency 60 And Autoimmunity	Bronchiectasis, Recurrent sinopulmonary infections, Splenomegaly, Chronic diarrhea, Crohn's disea...	OMIM:618394
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal pulmonary interstitial morphology, Nephrotic syndrome	ORPHA:401835
Mosaic Trisomy 14	Hypospadias, High palate, Cleft palate, Ectopic anus, Ptosis, Failure to thrive, Cryptorchidism, ...	ORPHA:1703
Linear Iga Dermatosis	Pruritus, Inflammation of the large intestine	ORPHA:46488
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Colitis	ORPHA:88643
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Bronchiectasis, Recurrent otitis media, Recurrent pneumonia, Recurrent s...	OMIM:607594
Epithelial Recurrent Erosion Dystrophy	Keratoconjunctivitis sicca, Subepithelial corneal opacities, Corneal scarring, Recurrent corneal ...	ORPHA:293381
X-Linked Intellectual Disability, Sutherland-Haan Type	Small for gestational age, Upslanted palpebral fissure, Anal atresia, Decreased body weight, Decr...	ORPHA:93950
Juvenile Xanthogranuloma	Asymmetry of iris pigmentation, Myeloproliferative disorder, Uveitis, Blepharitis, Iritis, Hyphema	ORPHA:158000
Familial Cold Autoinflammatory Syndrome 1	Uveitis, Arthritis, Skin rash, Conjunctivitis	OMIM:120100
Radiation Proctitis	Abnormal vascular morphology, Tenesmus, Abnormality of gastrointestinal vasculature, Intestinal o...	ORPHA:70475
Immunodeficiency 76	Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Recurrent bronchiolitis, Colitis	OMIM:619164
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Arthritis, Gastric hypertrophy, Gastric ulcer, Ptosis	OMIM:161700
Interstitial Lung And Liver Disease	Hepatomegaly, Hepatic fibrosis, Vomiting, Failure to thrive, Cirrhosis, Hepatic steatosis, Elevat...	OMIM:615486
Lacrimal Duct Defect	Sinusitis, Dacryocystocele, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis	OMIM:149700
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Bronchiectasis, Gastritis, Perianal abscess, Skin rash, Recu...	OMIM:618108
Caroli Disease	Cholangitis, Cholangiocarcinoma, Esophageal varix, Splenomegaly, Intrahepatic cholestasis, Portal...	ORPHA:53035
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1	Cirrhosis, Reticular pattern on pulmonary HRCT, Pulmonary fibrosis, Gastroesophageal reflux, Usua...	OMIM:614742
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology...	OMIM:142623
Autoinflammatory Syndrome, Familial, Behcet-Like	Anterior uveitis, Ileal ulcer, Skin rash, Genital ulcers, Colitis	OMIM:616744
Dermatopathia Pigmentosa Reticularis	Abnormal conjunctiva morphology, Hypohidrosis	OMIM:125595
Blepharocheilodontic Syndrome 2	Euryblepharon, Distichiasis, Ectropion of lower eyelids	OMIM:617681
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Dysphagia, Corneal erosion, Esophageal ulceration, Ankyloglossia, Recurrent skin infections, Anal...	ORPHA:79408
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Patent ductus arteriosus	ORPHA:2978
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Bronchiectasis, Pneumothorax, Elevated bronchoalveolar lavage fluid lymphocyte prop...	OMIM:612387
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy	OMIM:121820
Tularemia	Conjunctival hyperemia, Pneumonia, Tachycardia, Otitis media, Inflammatory abnormality of the eye...	ORPHA:3392
Familial Cold Urticaria	Arthritis, Hyperhidrosis, Conjunctivitis	ORPHA:47045
Leg, Absence Deformity Of, With Congenital Cataract	Developmental cataract, Progressive cataract, Anal atresia	OMIM:246000
Renal-Hepatic-Pancreatic Dysplasia 2	Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis, Pulmonary hypoplas...	OMIM:615415
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Failure to thrive, Cardiomegaly, Hepatosplenomegaly, Reticular pattern on pulmonary...	ORPHA:99931
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis	OMIM:613960
Autosomal Dominant Spastic Paraplegia Type 29	Abnormal rectum morphology, Hiatus hernia, Hyperbilirubinemia	ORPHA:101009
Lymphedema-Distichiasis Syndrome	Cleft palate, Ptosis, Corneal ulceration, Distichiasis, Recurrent corneal erosions, Arrhythmia, C...	OMIM:153400
Usmani-Riazuddin Syndrome, Autosomal Recessive	Conjunctival hyperemia, High palate, Epicanthus	OMIM:619548
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Colitis, Minimal change glomerulonephritis	OMIM:617006
Hemochromatosis Type 4	Congenital hepatic fibrosis, Hepatic steatosis, Increased circulating ferritin concentration, Cir...	ORPHA:139491
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Anorexia, Vomiting, Xerostomia, Gastrointestinal carcinoma, Malabsorption, Hamartomatou...	OMIM:175500
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Hepatocellular necrosis, Periportal fibrosis, Hepatic steatosis, Necrotizing entero...	OMIM:201475
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome	Ectopic anus	ORPHA:2866
Cutis Laxa, Autosomal Recessive, Type Ic	Pyloric stenosis, Rectal prolapse, Pulmonary hypoplasia, Vascular dilatation, Pulmonary artery st...	OMIM:613177
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph...	OMIM:613101
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor	OMIM:243320
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac...	OMIM:221900
Congenital Tufting Enteropathy	Villous atrophy, Corneal erosion, Vomiting, Failure to thrive, Abdominal distention, Weight loss,...	ORPHA:92050
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatomegaly, Myoglobinuria, Dysmenorrhea, Portal fibrosis, Hepatic fibrosis, Hepatocellular carc...	ORPHA:370
Senior-Boichis Syndrome	Esophageal varix, Thickening of the tubular basement membrane, Hepatosplenomegaly, Reduced renal ...	ORPHA:84081
Autoinflammation With Infantile Enterocolitis	Feeding difficulties in infancy, Villous atrophy, Failure to thrive, Splenomegaly, Skin rash, Ent...	OMIM:616050
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Atopic dermatitis, Lactose intolerance, Feeding difficulties in infancy, Allergic rhinitis, Dysph...	ORPHA:411696
Muckle-Wells Syndrome	Conjunctival hyperemia, Recurrent aphthous stomatitis, Maculopapular exanthema, Conjunctivitis	OMIM:191900
Anus, Imperforate	Anal atresia	OMIM:207500
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormality of the small intestine, Growth delay, Lymphadenopathy, Malabsorption, S...	ORPHA:100025
Congenital Megacalycosis	Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol...	ORPHA:93109
Cat-Eye Syndrome (Type I)	Iris coloboma, Downslanted palpebral fissures, Anal atresia	DECIPHER:42
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Honeycomb lung, Absent bronchoalveolar surfactant-protein C, Desquamative i...	OMIM:610921
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Telecanthus, Femal...	ORPHA:572333
Uveal Melanoma	Mydriasis, Zonular cataract, Iris melanoma, Inflammatory abnormality of the eye, Vitreous hemorrh...	ORPHA:39044
Chronic Beryllium Disease	Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Weight loss, Hyper...	ORPHA:133
Isolated Congenital Alacrima	Corneal erosion, Ptosis, Keratitis, Lacrimal punctal atresia, Distichiasis, Lacrimal gland hypopl...	ORPHA:91416
Porphyria Cutanea Tarda, Type I	Porphyrinuria, Hepatic fibrosis	OMIM:176090
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Dysphagia, Corneal scarring, Spontaneous esophageal perforation, Esophageal stricture, Squamous c...	OMIM:226600
Senior-Loken Syndrome	Congenital hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Premature ovarian ...	ORPHA:3156
Focal Facial Dermal Dysplasia 3, Setleis Type	Distichiasis, Absent lower eyelashes, Epicanthus, Anal atresia	OMIM:227260
Budd-Chiari Syndrome	Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Peritonitis, Weight loss, Malabsorp...	ORPHA:131
Riboflavin Transporter Deficiency	Dysphagia, Cachexia, Ptosis, Hypogonadism, Iris hypopigmentation	ORPHA:97229
Pulmonary Hemosiderosis	Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage	OMIM:178550
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal gastric mucosa morphology, Abnormality of the liver, Biliary tract abnorma...	ORPHA:234
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Feeding difficulties, Cachexia, Weight loss	OMIM:612075
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Pulmonary fibrosis	OMIM:615704
Pediatric Hepatocellular Carcinoma	Elevated alpha-fetoprotein, Hepatomegaly, Hepatic necrosis, Hepatic fibrosis	ORPHA:33402
Kindler Epidermolysis Bullosa	Dysphagia, Inflammation of the large intestine, Ectropion, Cheilitis, Abnormality of the anus, Es...	ORPHA:2908
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Villous atrophy, Pneumonia, Bronchiectasis, Failure to thriv...	OMIM:614700
Colonic Atresia	Abdominal situs inversus, Abnormality of mesentery morphology, Duodenal stenosis, Abdominal diste...	ORPHA:1198
Osteootohepatoenteric Syndrome	Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Villous atrophy, Portal fibrosi...	OMIM:619377
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatomegaly, High palate, Hepatic fibrosis, Macroglossia, Renal dysplasia, Nephronophthisis, Ren...	OMIM:266920
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Increased fecal porphyrin, Ectropion, Recurrent bacterial skin infection...	ORPHA:95159
Majeed Syndrome	Inflammatory abnormality of the skin, Abnormal inflammatory response, Cachexia, Hepatomegaly, Pus...	ORPHA:77297
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Bloody diarrhea, Rectal prolapse, Vomiting, Peritonitis, Acute colitis, Intestinal perforation, P...	ORPHA:90038
Blepharocheilodontic Syndrome 1	Ectropion of lower eyelids, Distichiasis, Anal atresia	OMIM:119580
Amoebiasis Due To Entamoeba Histolytica	Constrictive pericarditis, Bloody diarrhea, Lung abscess, Protracted diarrhea, Gastrointestinal d...	ORPHA:67
Pulmonary Blastoma	Weight loss, Recurrent pneumonia, Pleuropulmonary blastoma	ORPHA:64741
Ichthyosis, Congenital, Autosomal Recessive 3	Ectropion, Hypohidrosis	OMIM:606545
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Coach Syndrome 2	Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Elevated circulating creatinine c...	OMIM:619111
Retinal Capillary Malformation	Central fundal arteriolar microaneurysms, Vitreous hemorrhage, Retinal capillary hemangioma, Hyphema	ORPHA:71213
Limited Cutaneous Systemic Sclerosis	Nausea and vomiting, Dysphagia, Gastroesophageal reflux, Pulmonary fibrosis	ORPHA:220402
Stevens-Johnson Syndrome	Dysphagia, Corneal erosion, Weight loss, Pancreatitis, Dyspareunia, Myocardial infarction, Acute ...	ORPHA:36426
Muckle-Wells Syndrome	Hepatomegaly, Episcleritis, Arthritis, Uveitis, Vasculitis, Skin rash, Recurrent aphthous stomati...	ORPHA:575
Proteus Syndrome	Limbal dermoid, Ptosis, Hemangioma, Lymphangioma, Downslanted palpebral fissures, Lipoma, Multipl...	OMIM:176920
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Myoglobinuria, Dysmenorrhea, Portal fibrosis, Hepatic fibrosis, Oligomenorrhea, Eso...	ORPHA:264580
Lassa Fever	Shock, Conjunctivitis, Dysphagia, Spontaneous abortion, Menometrorrhagia, Abnormal bleeding, Jaun...	ORPHA:99824
Fanconi Renotubular Syndrome 5	Lung adenocarcinoma, Tubulointerstitial fibrosis, Stage 5 chronic kidney disease, Glycosuria, Pro...	OMIM:618913
Sézary Syndrome	Hepatomegaly, Neoplasm of the skin, Erythroderma, Ectropion, Lymphoma, Cutaneous T-cell lymphoma	ORPHA:3162
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
Hermansky-Pudlak Syndrome 1	Inflammation of the large intestine, Prolonged bleeding time, Pulmonary fibrosis, Colitis, Renal ...	OMIM:203300
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Nephrotic syndrome, Splenomegaly, Crohn's disease, Hepatosplenomegaly, Perianal abscess, Anal fis...	OMIM:618935
Cenani-Lenz Syndrome	High, narrow palate, Ectropion, Ptosis, Downslanted palpebral fissures, Cataract, Hypothyroidism	ORPHA:3258
Shigellosis	Myocarditis, Hypovolemic shock, Failure to thrive in infancy, Pneumonia, Peritonitis, Acute colit...	ORPHA:810
Isolated Biliary Atresia	Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli...	ORPHA:30391
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Morphological abnormality of the gastrointestinal tract, Achalasia, Hypoperistalsis, Recurrent re...	ORPHA:1018
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Infertility, Oligomenorrhea, Hepatic fibrosis	ORPHA:280356
Hereditary Acrokeratotic Poikiloderma	Eczema, Pustule, Gingival bleeding, Ectropion, Transitional cell carcinoma of the bladder, Xerost...	ORPHA:2907
Christianson Syndrome	Feeding difficulties in infancy, Dysphagia, Cachexia, Thick eyebrow, Gastroesophageal reflux	ORPHA:85278
Polymyositis	Hepatomegaly, Anorexia, Weight loss, Gastrointestinal hemorrhage, Abnormal pulmonary interstitial...	ORPHA:732
Clouston Syndrome	Sparse eyelashes, Cataract, Sparse and thin eyebrow, Blepharitis, Conjunctivitis	OMIM:129500
Zika Virus Disease	Infectious encephalitis, Lens subluxation, Spontaneous abortion, Arthritis, Iris coloboma, Subcut...	ORPHA:448237
Diffuse Cutaneous Systemic Sclerosis	Nausea and vomiting, Dysphagia, Xerostomia, Malabsorption, Dyspareunia, Abnormal bowel sounds, Re...	ORPHA:220393
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Keratoconjunctivitis sicca, Sparse eyelashes, Trichiasis, Corneal scarring, Furrowed tongue, Abno...	OMIM:148210
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Ectropion, Ptosis, Micronodular cirrhosis, Cardiomyopathy, Hepatic steatosis, Subca...	ORPHA:98907
Hirschsprung Disease	Nausea and vomiting, Failure to thrive in infancy, Aganglionic megacolon, Functional abnormality ...	ORPHA:388
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema	Eczema, Inflammation of the large intestine, Dysphagia, Colitis, Failure to thrive, Arthritis, Ch...	OMIM:608809
Coffin-Siris Syndrome 1	Hypospadias, Duodenal ulcer, Feeding difficulties in infancy, Cleft palate, High palate, Gastric ...	OMIM:135900
Absence Deformity Of Leg-Cataract Syndrome	Cataract, Anal atresia	ORPHA:2310
Wiskott-Aldrich Syndrome	Sinusitis, Eczema, Inflammation of the large intestine, Petechiae, Chronic otitis media, Abnormal...	ORPHA:906
Autosomal Recessive Polycystic Kidney Disease	Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Esophageal varix, Spl...	ORPHA:731
Lacrimoauriculodentodigital Syndrome	Keratoconjunctivitis sicca, Abnormal salivary gland morphology, Lacrimal gland aplasia, Absent la...	ORPHA:2363
Ring Chromosome 10 Syndrome	Cachexia, Aganglionic megacolon, Downslanted palpebral fissures	ORPHA:1438
Retinoblastoma	Hypopyon, Cleft palate, Subretinal pigment epithelium hemorrhage, Rhabdomyosarcoma, Leukemia, Red...	ORPHA:790
Lichen Planus Pemphigoides	Blepharitis, Conjunctivitis	ORPHA:254478
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Cystic acne, Sterile arthritis, Acne, Arthritis, Hepatosplenomegaly, Colitis	OMIM:604416
Crimean-Congo Hemorrhagic Fever	Myocarditis, Adrenal insufficiency, Subdural hemorrhage, Melena, Parotitis, Acute pancreatitis, D...	ORPHA:99827
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Rectal prolapse, Epicanthus, Erysipelas, Intestinal lymphangiectasia, Narrow palate, Pleural lymp...	OMIM:235510
Granulomatosis With Polyangiitis	Sinusitis, Episcleritis, Retinal hemorrhage, Chronic otitis media, Weight loss, Keratitis, Uveiti...	OMIM:608710
Fetal Gaucher Disease	Hepatomegaly, Intracranial hemorrhage, High palate, Ectropion	ORPHA:85212
Orofacial Cleft 15	Sparse eyelashes, Upslanted palpebral fissure, Epicanthus, Sparse eyebrow, Euryblepharon, Ectropi...	OMIM:616788
Crouzon Disease	Conjunctivitis, Narrow palate, Ptosis, Iris coloboma	ORPHA:207
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, Tube feeding, Villous atrophy, Vomiting, Chronic diarrhea, Pulmonar...	OMIM:619510
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Decreased circulating aldosterone level, Adrenal insufficiency, Hypoparathyroidism, Chronic activ...	OMIM:240300
Carcinoid Syndrome	Nausea and vomiting, Small intestine carcinoid, Protracted diarrhea, Hepatic necrosis, Episodic a...	ORPHA:100093
Acrocephalopolydactylous Dysplasia	Cystic renal dysplasia, Hepatomegaly, Hypoplastic colon, Hepatic fibrosis, Extrapulmonary sequest...	OMIM:200995
Inflammatory Pseudotumor Of The Liver	Vomiting, Nausea, Abdominal distention, Weight loss, Abnormal liver sonography, Neoplasm of the l...	ORPHA:90003
Mixed Connective Tissue Disease	Hepatomegaly, Xerostomia, Pleuritis, Splenomegaly, Gastritis, Gastrointestinal hemorrhage, Prolon...	ORPHA:809
Autoimmune Hypoparathyroidism	Autoimmune hypoparathyroidism, Prolonged QT interval, Ventricular arrhythmia, Chronic mucocutaneo...	ORPHA:36913
Immunodeficiency 70	Celiac disease, Achalasia, Furuncle, Colitis, Recurrent sinusitis	OMIM:618969
Yao Syndrome	Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Xerostomia, Weigh...	OMIM:617321
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Hepatocellular necrosis, Failure to thrive, Depletion of mitochondrial DNA in liver...	OMIM:251880
Infantile Liver Failure Syndrome 3	Hepatomegaly, Short stature, Splenomegaly, Hyperammonemia, Hepatic steatosis, Acute hepatic failu...	OMIM:618641
Toxic Epidermal Necrolysis	Dysphagia, Corneal erosion, Weight loss, Intestinal perforation, Pancreatitis, Malabsorption, Acu...	ORPHA:537
Agammaglobulinemia, X-Linked	Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Pneumonia, Prostatitis, Epid...	OMIM:300755
Ménétrier Disease	Anorexia, Stomach cancer, Abnormal gastric mucosa morphology, Vomiting, Helicobacter pylori infec...	ORPHA:2494
Reticular Dysgenesis	Chronic otitis media, Failure to thrive, Weight loss, Malabsorption, Skin rash, Recurrent respira...	ORPHA:33355
Ichthyosis, Congenital, Autosomal Recessive 4B	Ectropion	OMIM:242500
Adams-Oliver Syndrome 6	Renal hypoplasia, Portal hypertension, Hepatic fibrosis, Esophageal varix	OMIM:616589
Warburg-Cinotti Syndrome	Decreased corneal thickness, Narrow palpebral fissure, High palate, Cholesteatoma, Symblepharon, ...	OMIM:618175
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Abnormality of the urinary system, Periportal fibrosis	OMIM:213010
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Ectropion	OMIM:242510
Spinocerebellar Ataxia 48	Dysphagia, Cachexia	OMIM:618093
Wild Type Attr Amyloidosis	Hepatomegaly, Nephrotic syndrome, Gastrointestinal dysmotility, Weight loss, Chronic diarrhea, In...	ORPHA:330001
Immunodeficiency 37	Colitis, Infectious encephalitis	OMIM:616098
Hemochromatosis Type 2	Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Congenital hepatic...	ORPHA:79230
Bile Acid Malabsorption, Primary, 2	Decreased circulating chenodeoxycholic acid concentration, Elevated circulating aspartate aminotr...	OMIM:619481
Multiple Endocrine Neoplasia Type 1	Duodenal ulcer, Anorexia, Constipation, Vomiting, Nausea, Hematemesis, Weight loss, Insulinoma, N...	ORPHA:652
Hepatocellular Carcinoma	Portal hypertension, Hepatomegaly, Anorexia, Esophageal varix, Hemobilia, Abdominal distention, H...	ORPHA:88673
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Gastrointestinal Stromal Tumor	Nausea and vomiting, Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm o...	ORPHA:44890
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma, Hypogonadotropic hypogonadism, Polycystic ovaries, Ectopic anus	ORPHA:1643
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Episcleritis, Arthritis, Lymphoma, Uveitis, Inflammatory abnormality of the eye, Sk...	ORPHA:36412
Gallbladder Disease 1	Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti...	OMIM:600803
Fanconi Anemia, Complementation Group O	Cryptorchidism, External genital hypoplasia, Rectal atresia, Anal atresia	OMIM:613390
Autoimmune Polyendocrine Syndrome, Type Ii	Chronic hepatitis, Hepatitis, Primary adrenal insufficiency, Chronic mucocutaneous candidiasis, C...	OMIM:269200
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hypertension, Nephritis, Epistaxis, Chemosis, Elevated circulating alanine aminotra...	OMIM:614034
Reynolds Syndrome	Keratoconjunctivitis sicca, Hepatomegaly, Dysphagia, Infectious encephalitis, Abnormal gastric mu...	ORPHA:779
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Vitreoretinochoroidopathy	Retinal neovascularization, Vitreous hemorrhage, Retinal arteriolar occlusion, Microcornea, Retin...	OMIM:193220
Lymphoid Interstitial Pneumonia	Hepatomegaly, Subpleural interstitial thickening, Bronchiectasis, Failure to thrive, Weight loss,...	ORPHA:79128
Surfactant Metabolism Dysfunction, Pulmonary, 2	Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneumonitis, Intralobular ...	OMIM:610913
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Nephrotic syndrome, Failure to thrive, Hemolytic-uremic syndrome, Pulmonary hemorrh...	OMIM:619644
Dubowitz Syndrome	Hypospadias, Eczema, High palate, Rectal prolapse, Ptosis, Sparse lateral eyebrow, Telecanthus, M...	ORPHA:235
Neuropathy, Congenital Hypomyelinating, 3	Cachexia, High palate, Ptosis, Epicanthus, Gastroesophageal reflux	OMIM:618186
Immunodeficiency 14B, Autosomal Recessive	Inflammation of the large intestine, Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent si...	OMIM:619281
Transketolase Deficiency	Secondary amenorrhea, Hepatomegaly, Seborrheic dermatitis, Uveitis, Cataract, Conjunctivitis	ORPHA:488618
Blue Rubber Bleb Nevus	Gastrointestinal infarctions, Volvulus, Prolonged bleeding time, Skin rash, Intestinal bleeding, ...	ORPHA:1059
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Cleft palate, Ectropion, Upslanted palpebral fissure, Ankyloblepharon, Absen...	OMIM:263650
Cap Polyposis	Colorectal polyposis, Atrophic gastritis, Abdominal distention, Weight loss, Hematochezia, Diarrh...	ORPHA:160148
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatosplenomegaly, Hepatic fibrosis	ORPHA:466794
Microsporidiosis	Sinusitis, Cholangitis, Myocarditis, Abnormality of the endometrium, Hepatitis, Abdominal pain, B...	ORPHA:2552
Whipple Disease	Myocarditis, Hepatomegaly, Cachexia, Anorexia, Pericarditis, Infectious encephalitis, Myositis, P...	ORPHA:3452
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2	Cirrhosis, Pulmonary fibrosis	OMIM:614743
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Aganglionic megacolon, Anal atresia	OMIM:235760
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypospadias, Aplasia/Hypoplasia of the lens, Anal atresia, Cataract, Cryptorchidism, Hypoplasia o...	ORPHA:1381
Bronchogenic Cyst	Dysphagia, Pneumonia, Bronchogenic cyst, Abnormality of the peritoneum, Abnormal stomach morpholo...	ORPHA:2357
Ichthyosis, Congenital, Autosomal Recessive 4A	Ectropion	OMIM:601277
Prognathism, Mandibular	Ectropion of lower eyelids	OMIM:176700
Tyrosinemia, Type I	Hepatomegaly, Renal Fanconi syndrome, Hepatocellular carcinoma, Nephrocalcinosis, Failure to thri...	OMIM:276700
22Q11.2 Deletion Syndrome	Cleft palate, Chronic otitis media, Telecanthus, Gastrointestinal hemorrhage, Retinal arteriolar ...	ORPHA:567
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Hamartoma of the orbital region, Telecanthus, Sparse eyebrow, Lacrimal pu...	ORPHA:2399
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Eczema, Abnormal intestine morphology, Tubulointerstitial nephritis, Hepatitis, Splenomegaly, Gas...	ORPHA:37042
Meckel Syndrome, Type 3	Hepatomegaly, Cleft palate, Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct...	OMIM:607361
Bathing Suit Ichthyosis	Ectropion, Erythroderma, Hypohidrosis	ORPHA:100976
Pterygium Of Conjunctiva And Cornea	Abnormal conjunctiva morphology, Pterygium	OMIM:178000
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o...	OMIM:602088
Aspergillosis	Pneumonia, Bronchiectasis, Pleuritis, Hepatitis, Hypersensitivity pneumonitis, Pulmonary fibrosis...	ORPHA:1163
Erythermalgia, Primary	Keratoconjunctivitis sicca, Palpitations, Xerostomia, Hyperhidrosis	OMIM:133020
Cirrhosis, Familial	Abdominal distention, Micronodular cirrhosis, Esophageal varix, Jaundice	OMIM:215600
Cdags Syndrome	Cleft palate, Sparse eyelashes, Ectropion, Ptosis, Rectovaginal fistula, Anal atresia, Rectoureth...	OMIM:603116
Jacobsen Syndrome	Pyloric stenosis, Eczema, Duodenal atresia, Ectropion, Eyelid coloboma, Ptosis, Ectopic anus, Abn...	ORPHA:2308
Cryoglobulinemic Vasculitis	Keratoconjunctivitis sicca, Hepatomegaly, Gastrointestinal infarctions, Petechiae, Arthritis, Abn...	ORPHA:91138
Coach Syndrome 1	Hepatomegaly, Hepatic fibrosis, Esophageal varix, Nephronophthisis, Multiple small medullary rena...	OMIM:216360
Mcdonough Syndrome	Cachexia, Ptosis, Short palpebral fissure, Cryptorchidism, Synophrys	ORPHA:2471
Autosomal Dominant Polycystic Kidney Disease	Pancreatic cysts, Reduced sperm motility, Hepatic cysts, Decreased glomerular filtration rate, Re...	ORPHA:730
Cholesteryl Ester Storage Disease	Nausea and vomiting, Hepatomegaly, Esophageal varix, Splenomegaly, Cirrhosis, Hepatic failure, Di...	ORPHA:75234
Trichothiodystrophy	Keratoconjunctivitis sicca, High, narrow palate, Developmental cataract, Eczema, Ectropion, Epica...	ORPHA:33364
Relapsing Polychondritis	Myocarditis, Pericarditis, Episcleritis, Chondritis of pinna, Chondritis, Hepatitis, Arthritis, K...	ORPHA:728
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urinary bladder inflammation, Congenital pyloric atresia, Ectropion, Recurrent skin infections, P...	ORPHA:79403
Pleural Mesothelioma	Hepatomegaly, Dysphagia, Weight loss, Abnormal lung morphology, Abnormal pleura morphology, Pleur...	ORPHA:50251
Hadziselimovic Syndrome	High palate, Ptosis, Failure to thrive, Epicanthus, Anal atresia, Pulmonary artery atresia	OMIM:612946
Scedosporiosis	Abnormal jejunum morphology, Pneumonia, Pleuritis, Pleural empyema, Pulmonary fibrosis, Abnormal ...	ORPHA:449280
Frontofacionasal Dysplasia	Limbal dermoid, Upper eyelid coloboma, Cleft palate, Ptosis, Brushfield spots, Telecanthus, Iris ...	ORPHA:1791
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Recurrent aspiration pneumonia, Urinary retention, Pu...	ORPHA:79124
Ectodermal Dysplasia-Blindness Syndrome	Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy, Cataract, Hypohidrosis, Microcornea	ORPHA:1806
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Hem...	ORPHA:91495
Prune Belly Syndrome	Aplasia/Hypoplasia of the lungs, Congenital posterior urethral valve, Failure to thrive, Volvulus...	ORPHA:2970
Riddle Syndrome	Pulmonary fibrosis	OMIM:611943
Ichthyosis, Congenital, Autosomal Recessive 2	Ectropion, Hypohidrosis	OMIM:242100
Autoimmune Hepatitis	Inflammation of the large intestine, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant ...	ORPHA:2137
X-Linked Creatine Transporter Deficiency	Cachexia, Aganglionic megacolon, Ptosis, Ileus, Constipation	ORPHA:52503
Cogan Syndrome	Episcleritis, Aortic regurgitation, Keratitis, Large vessel vasculitis, Uveitis, Scleritis, Infla...	ORPHA:1467
Immunodeficiency 58	Eczema, Allergic rhinitis, Dysphagia, Chronic bronchitis, Helicobacter pylori infection, Recurren...	OMIM:618131
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic failure, Chr...	OMIM:615630
Lamellar Ichthyosis	Chronic otitis media, Aplasia/Hypoplasia of the eyebrow, Erythroderma, Ectropion	ORPHA:313
Cholestasis, Progressive Familial Intrahepatic, 6	Periportal fibrosis, Failure to thrive, Conjugated hyperbilirubinemia, Elevated hepatic transamin...	OMIM:619484
Diverticulosis, Small-Intestinal	Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti...	OMIM:223320
Meckel Syndrome, Type 6	Cleft palate, Hepatic fibrosis, Bile duct proliferation, Renal cyst, Cystic liver disease, Pulmon...	OMIM:612284
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Myoglobinuria, Dysmenorrhea, Hepatic fibrosis, Hepatocellular carcinoma, Oligomenor...	ORPHA:79240
Benign Recurrent Intrahepatic Cholestasis	Nausea and vomiting, Anorexia, Hepatocellular carcinoma, Acholic stools, Weight loss, Pancreatiti...	ORPHA:65682
Axial Mesodermal Dysplasia Spectrum	Limbal dermoid, Abnormality of the spleen, Abnormal intestine morphology, Aplasia/Hypoplasia of t...	ORPHA:1834
Cockayne Syndrome Type 2	Hepatomegaly, Developmental cataract, Uveitis, Male hypogonadism, Conjunctivitis	ORPHA:90322
Proteasome-Associated Autoinflammatory Syndrome 3	Sinusitis, Hepatomegaly, Myositis, Failure to thrive, Panniculitis, Arthritis, Skin rash, Elevate...	OMIM:617591
Primary Biliary Cholangitis	Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Celiac dis...	ORPHA:186
Ifap Syndrome 2	Keratoconjunctivitis sicca, Angular cheilitis, Keratitis, Posterior blepharitis, Cataract	OMIM:619016
Trypsinogen Deficiency	Failure to thrive, Hypoproteinemia, Anal atresia	OMIM:614044
Multicentric Reticulohistiocytosis	Cachexia, Arthritis	ORPHA:139436
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Sparse eyebrow, Ectropion	ORPHA:2269
Renal Dysplasia	Abnormal renal calyx morphology, Chronic kidney disease, Abdominal pain, Abnormal nephron morphol...	ORPHA:93108
Nephronophthisis 3	Renal tubular atrophy, Hepatic fibrosis, Nephronophthisis, Tubulointerstitial fibrosis, Renal cor...	OMIM:604387
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Hepatomegaly, Microvesicular hepatic steatosis, Lagopthalmos, Impaired oral bolus formation, Smal...	ORPHA:404454
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Esophageal varix, Splenomegaly, Elevated hepatic transaminase, Portal hypertension	OMIM:617068
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hypospadias, Hepatomegaly, Feeding difficulties in infancy, Megarectum, Small for gestational age...	OMIM:301056
Distal Trisomy 15Q	High palate, Ptosis, Downslanted palpebral fissures, Anal atresia, Cryptorchidism, Blepharophimos...	ORPHA:1707
Oculocerebral Hypopigmentation Syndrome, Cross Type	Ectropion, Ocular albinism, Corneal opacity, Cataract, Iris hypopigmentation	ORPHA:2719
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Broad eyebrow, Failure to thrive in infancy, Bronchiectasis, Corneal scarring, Chronic diarrhea, ...	OMIM:301220
Kabuki Syndrome 2	Highly arched eyebrow, Cleft palate, High palate, Sparse lateral eyebrow, Recurrent otitis media,...	OMIM:300867
Autoinflammation, Immune Dysregulation, And Eosinophilia	Atopic dermatitis, Membranous nephropathy, Hepatic cysts, Colonic eosinophilia, Hepatosplenomegal...	OMIM:618999
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Micropenis, High palate, Pulmonary fibrosis, Overweight	ORPHA:457240
Braddock Syndrome	Failure to thrive, Pulmonary fibrosis, Unilateral renal agenesis	ORPHA:52047
Citrullinemia Type Ii	Hepatomegaly, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatoc...	ORPHA:247585
Tuberculosis	Weight loss, Abnormal lung morphology	ORPHA:3389
Congenital Erythropoietic Porphyria	Neoplasm of the skin, Seborrhoeic blepharitis, Increased fecal coproporphyrin 1, Ectropion, Incre...	ORPHA:79277
Hyperphosphatasia With Mental Retardation Syndrome 1	Highly arched eyebrow, Aganglionic megacolon, Cleft palate, Feeding difficulties, Upslanted palpe...	OMIM:239300
Felty Syndrome	Hepatomegaly, Weight loss, Pleuritis, Splenomegaly, Recurrent urinary tract infections, Recurrent...	ORPHA:47612
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Urethral atresia, Anal atresia, Tracheoesophageal fistula, Enlarged kidney	OMIM:314390
Eales Disease	Epistaxis, Iris neovascularization, Peripheral retinal neovascularization, Anterior uveitis, Reti...	ORPHA:40923
Feingold Syndrome 2	Intestinal atresia, Postnatal growth retardation, Short stature	OMIM:614326
Diencephalic Syndrome	Cachexia, Decreased body weight, Long penis	ORPHA:1672
Mannosidosis, Beta A, Lysosomal	Tortuosity of conjunctival vessels	OMIM:248510
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Intrauterine growth retardation, Hepatic fibrosis, Growth delay, Decreased serum zinc, Esophagiti...	ORPHA:541423
Exudative Vitreoretinopathy 1	Retinal neovascularization, Subcapsular cataract, Vitreous hemorrhage, Peripheral retinal avascul...	OMIM:133780
Ichthyosis, Congenital, Autosomal Recessive 1	Erythroderma, Ectropion	OMIM:242300
Non-Syndromic Posterior Hypospadias	Ventral shortening of foreskin, Cleft palate, Bifid scrotum, Small for gestational age, Esophagea...	ORPHA:95706
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis	OMIM:615083
Exudative Vitreoretinopathy 4	Subcapsular cataract, Vitreous hemorrhage, Peripheral retinal avascularization	OMIM:601813
Dyskeratosis Congenita, Autosomal Dominant 2	Failure to thrive, Chronic diarrhea, Esophageal stricture, Urethral stricture, Pulmonary fibrosis	OMIM:613989
Enterocolitis	Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis	OMIM:226150
Immunodeficiency 47	Decreased circulating antibody level, Splenomegaly, Accessory spleen, Decreased circulating total...	OMIM:300972
Moynahan Syndrome	Hypogonadism, Cachexia	ORPHA:2574
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex	Keratoconjunctivitis sicca, Hepatomegaly, Xerostomia, Pancreatitis, Angular cheilitis, Sclerosing...	OMIM:260480
Trichothiodystrophy 1, Photosensitive	Keratoconjunctivitis sicca, Telangiectasia, Erythroderma, Small for gestational age, Basal cell c...	OMIM:601675
Leprechaunism	Hepatomegaly, Megarectum, Rectal prolapse, Long penis, Failure to thrive, Enlarged ovaries, Abdom...	ORPHA:508
Primary Sclerosing Cholangitis	Neoplasm of the gallbladder, Cholangiocarcinoma, Prolonged prothrombin time, Hepatitis, Splenomeg...	ORPHA:171
Postaxial Acrofacial Dysostosis	Ectropion of lower eyelids, Eyelid coloboma, Cleft palate, Downslanted palpebral fissures	ORPHA:246
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Pneumonia, Prostatitis, Epid...	OMIM:307200
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Dysphagia, Pulmonary fibrosis, Bronchiolitis	ORPHA:254361
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5	Pulmonary fibrosis	OMIM:618674
Congenital Disorder Of Glycosylation, Type Ia	Hepatomegaly, Feeding difficulties in infancy, Hepatic fibrosis, Vomiting, Nephrotic syndrome, Pr...	OMIM:212065
Idiopathic Bronchiectasis	Cachexia, Bronchiectasis, Recurrent lower respiratory tract infections, Respiratory tract infecti...	ORPHA:60033
Marburg Hemorrhagic Fever	Conjunctival hyperemia, Petechiae, Prolonged prothrombin time, Odynophagia, Excessive bleeding af...	ORPHA:99826
Transaldolase Deficiency	Hepatomegaly, Hepatic fibrosis, Small for gestational age, Failure to thrive, Micronodular cirrho...	OMIM:606003
Inflammatory Skin And Bowel Disease, Neonatal, 1	Bloody diarrhea, Erythroderma, Villous atrophy, Pustule, Failure to thrive, Duodenitis, Blepharitis	OMIM:614328
Galactose Epimerase Deficiency	Nausea and vomiting, Hepatomegaly, Feeding difficulties, Weight loss, Splenomegaly, Cataract, Jau...	ORPHA:79238
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality of the pancreas, Abnormali...	ORPHA:543
Antisynthetase Syndrome	Keratoconjunctivitis sicca, Myocarditis, Dysphagia, Myositis, Xerostomia, Aortic regurgitation, P...	ORPHA:81
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Bronchiectasis, Interlobular septal thickening, Peribr...	ORPHA:79126
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent infection of the gastrointestinal tract, Pneumonia, Stomatitis, Lymphadenitis, Failure ...	ORPHA:911
Mitchell-Riley Syndrome	Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Malabsorption, Jejunal...	OMIM:615710
Systemic Sclerosis	Gastroparesis, Abnormal stomach morphology, Intestinal bleeding, Chronic kidney disease, Barrett ...	ORPHA:90291
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Cleft palate, Ankyloblepharon, Absent eyelashes, Lacrimal duct atresia, Anhidro...	OMIM:106260
Short Stature-Wormian Bones-Dextrocardia Syndrome	High palate, Midshaft hypospadias, Downslanted palpebral fissures, Long eyelashes, Anal atresia, ...	ORPHA:2863
Hardikar Syndrome	Cholangitis, Esophageal varix, Intrahepatic bile duct cysts, Splenomegaly, Hepatosplenomegaly, Hy...	OMIM:301068
Tumoral Calcinosis, Normophosphatemic, Familial	Conjunctivitis	OMIM:610455
Thymic-Renal-Anal-Lung Dysplasia	Anal atresia	OMIM:274265
Leptospirosis	Conjunctival hyperemia, Hepatomegaly, Pericarditis, Retinal hemorrhage, Elevated serum transamina...	ORPHA:509
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Inflammation of the large intestine, Esophageal varix, Failure to thrive, Epicanthu...	OMIM:614576
Infant Botulism	Mydriasis, Keratoconjunctivitis sicca, Hypertension, Dysphagia, Ptosis, Chronic otitis media, Xer...	ORPHA:178478
Bartsocas-Papas Syndrome 2	Bilateral cleft lip and palate, Popliteal pterygium, Ankyloblepharon, Antecubital pterygium, Corn...	OMIM:619339
Familial Pancreatic Carcinoma	Nausea and vomiting, Anorexia, Intestinal pseudo-obstruction, Functional intestinal obstruction, ...	ORPHA:1333
Distal Monosomy 10P	Cleft palate, Ectopic anus, Polycystic ovaries, Downslanted palpebral fissures, Anal atresia, Cry...	ORPHA:1580
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Inflammation of the large intestine, Pruritus, Acne, Arthritis, Palmopla...	ORPHA:324964
Laurence-Moon Syndrome	Congenital hepatic fibrosis, Displacement of the urethral meatus, Obesity, Hypoplasia of penis, R...	ORPHA:2377
Congenital Muscular Dystrophy Due To Lmna Mutation	Feeding difficulties, Cachexia	ORPHA:157973
Avian Influenza	Infectious encephalitis, Pneumonia, Hepatitis, Spontaneous abortion, Increased circulating lactat...	ORPHA:454836
Agel Amyloidosis	Keratoconjunctivitis sicca, Orthostatic hypotension due to autonomic dysfunction, Xerostomia, Bil...	ORPHA:85448
Intrinsic Factor Deficiency	Absence of intrinsic factor, Malabsorption	OMIM:261000
Cataract-Microcornea Syndrome	Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea	ORPHA:1377
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia, Ptosis, Feeding difficulties, Epicanthus, Downslanted pal...	OMIM:616801
Gastrocutaneous Syndrome	Upslanted palpebral fissure, Hiatus hernia, Peptic ulcer, Synophrys	ORPHA:2069
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatic steatosis, Fulminant hepatic failure, Hepatic necrosis, Feeding difficulties in infancy	OMIM:231530
Trichothiodystrophy 4, Nonphotosensitive	Keratoconjunctivitis sicca, Sparse eyelashes, Epicanthus, Microcornea, Decreased fertility	OMIM:234050
46,Xx Gonadal Dysgenesis	Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Pulmonar...	ORPHA:243
Interstitial Pneumonitis, Desquamative, Familial	Desquamative interstitial pneumonitis, Failure to thrive, Tubulointerstitial fibrosis, Recurrent ...	OMIM:263000
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Upper eyelid coloboma, Absent lacrimal punctum, Ectopic lacrimal punctum,...	OMIM:167730
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Peritonitis, Myositis, Fasciitis, Arthritis, Intestinal obstruction, Uveitis, Vascu...	ORPHA:32960
Eosinophilic Gastroenteritis	Atopic dermatitis, Dysphagia, Allergic rhinitis, Vomiting, Weight loss, Malabsorption, Steatorrhe...	ORPHA:2070
Cockayne Syndrome Type 1	Hepatomegaly, Hypertension, Failure to thrive, Male hypogonadism, Uveitis, Cataract, Hypohidrosis...	ORPHA:90321
Cat-Eye Syndrome	Iris coloboma, Downslanted palpebral fissures, Anal atresia	ORPHA:195
Laryngeal Neuroendocrine Tumor	Oral-pharyngeal dysphagia, Weight loss, Anorexia	ORPHA:100083
Amoebic Keratitis	Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a...	ORPHA:67043
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Hepatic calcification, Feeding difficulties in infancy, High palate, Ureteral dupli...	OMIM:608836
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Uveitis, Peripheral retinal neovascularization, Vitreous he...	OMIM:193235
Ichthyosis, Congenital, Autosomal Recessive 6	Ectropion, Erythroderma, Hypohidrosis	OMIM:612281
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Vomiting, Nausea, Hepatic steatosis, Pachygyria, Pulmonary hypoplasia, Hepatic peri...	OMIM:231680
Holocarboxylase Synthetase Deficiency	Weight loss, Eczema, Keratoconjunctivitis, Perioral eczema	ORPHA:79242
Crouzon Syndrome	Dysgerminoma, Keratitis, Shallow orbits, Conjunctivitis	OMIM:123500
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