Not currently registered for phenotyping at IMPC

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

Gene Summary


IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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

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

Disease Similarity of
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Abdominal distention, Rectal pr... ORPHA:508
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