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
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
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
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
Keratoconjunctivitis sicca, Multiple cutaneous malignancies, Ectropion, Keratitis, Eyelid retract... ORPHA:182
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Autoimmune Interstitial Lung, Joint, And Kidney Disease