Gene Summary

Name:
prostaglandin-endoperoxide synthase 1
Synonyms:
Cox-1,  cyclooxygenase 1,  COX1,  Cox-3,  Pghs1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged cecum Ptgs1em1(IMPC)Mbp HOM Early adult 0.00
abnormal cecum morphology Ptgs1em1(IMPC)Mbp HOM Early adult 0.00
abnormal auditory brainstem response Ptgs1em1(IMPC)Mbp HOM   Early adult 4.17×10-06

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Whole Body Dorso Ventral

45 Images

Human diseases caused by Ptgs1 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.

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

The table below shows human diseases predicted to be associated to Ptgs1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glanzmann Thrombasthenia 2
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, Epistax... OMIM:619267
Athrombia, Essential
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Impaired platelet adhe... OMIM:209050
Thrombocytopenia 7
Reduced platelet dense granules, Post-partum hemorrhage, Impaired ristocetin-induced platelet agg... OMIM:619130
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Epistaxis, Impaired collagen-induced platelet ... OMIM:173590
Bleeding Disorder, Platelet-Type, 24
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, I... OMIM:619271
Colonic Varices Without Portal Hypertension
Intestinal bleeding, Colonic varices OMIM:120440
Bleeding Disorder, Platelet-Type, 22
Subcutaneous hemorrhage, Impaired platelet aggregation, Excessive bleeding from superficial cuts OMIM:618462
Glanzmann Thrombasthenia 1
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Impaired clot retraction, Epistaxis, Dec... OMIM:273800
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Bleeding Disorder, Platelet-Type, 18
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Bleeding Disorder, Platelet-Type, 8
Ecchymosis, Epistaxis, Impaired ADP-induced platelet aggregation, Abnormal bleeding, Prolonged bl... OMIM:609821
Glanzmann Thrombasthenia
Ecchymosis, Macroscopic hematuria, Menorrhagia, Gingival bleeding, Spontaneous, recurrent epistax... ORPHA:849
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Platelet Aggregation, Spontaneous
Abnormal platelet function, Spontaneous platelet aggregation OMIM:173400
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epist... OMIM:173470
Bernard-Soulier Syndrome
Menorrhagia, Gingival bleeding, Epistaxis, Impaired ristocetin-induced platelet aggregation, Gast... OMIM:231200
Lynch Syndrome I
Colon cancer OMIM:120435
Colorectal Cancer, Hereditary Nonpolyposis, Type 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Macrothrombocytopenia and progressive sensorineural deafness
Abnormality of the urinary system, Prolonged bleeding time, Giant platelets, Abnormal bleeding, T... OMIM:600208
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:608404
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Platelet Disorder, Undefined
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time, Impaired platelet aggregation OMIM:173420
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Hereditary nonpolyposis colorectal carcinoma OMIM:613244
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Von Willebrand Disease, Type 3
Menorrhagia, Joint hemorrhage, Epistaxis, Prolonged bleeding time, Abnormal bleeding, Thrombocyto... OMIM:277480
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Ecchymosis, Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising sus... OMIM:614009
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Fechtner syndrome
Menorrhagia, Hematuria, Nephritis, Stage 5 chronic kidney disease, Prolonged bleeding time, Giant... OMIM:153640
Bleeding Disorder, Platelet-Type, 11
Ecchymosis, Menorrhagia, Epistaxis, Prolonged bleeding time, Bruising susceptibility OMIM:614201
Bleeding Disorder, Platelet-Type, 16
Petechiae, Giant platelets, Abnormal bleeding, Thrombocytopenia, Macrothrombocytopenia, Platelet ... OMIM:187800
Bleeding Disorder, Platelet-Type, 14
Ecchymosis, Epistaxis, Prolonged bleeding time, Bruising susceptibility OMIM:614158
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Menorrhagia, Eczema, Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Gray Platelet Syndrome
Menorrhagia, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, E... OMIM:139090
Factor V Deficiency
Menorrhagia, Prolonged prothrombin time, Epistaxis, Prolonged bleeding time, Abnormal bleeding, B... OMIM:227400
Bleeding Disorder, Platelet-Type, 12
Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Impaired platelet aggregation, Bru... OMIM:605735
Myh9-Related Disease
Menorrhagia, Increased mean platelet volume, Nephritis, Spontaneous, recurrent epistaxis, Prolong... ORPHA:182050
Premature Ovarian Failure 13
Oligomenorrhea OMIM:617442
Premature Ovarian Failure 15
Oligomenorrhea OMIM:618096
Hemophilia B
Intracranial hemorrhage, Joint hemorrhage, Hematuria, Spontaneous, recurrent epistaxis, Cephalohe... ORPHA:98879
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Menorrhagia, Epistaxis, Prolonged bleeding time, Giant platelets, Abnormal bleeding, Thrombocytop... OMIM:155100
Quebec Platelet Disorder
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage, Epistaxis, Thro... OMIM:601709
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Von Willebrand Disease, Type 1
Menorrhagia, Joint hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding time, P... OMIM:193400
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Thrombocytopenia, Abnormal platelet function ORPHA:231393
Sebastian syndrome
Thrombocytopenia, Epistaxis, Prolonged bleeding time, Giant platelets OMIM:605249
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Epistaxis, Prolonged bleeding time, Abnormal alpha granule conten... OMIM:601399
Slc35A1-Cdg
Pneumonia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal platelet granules, Prolonged b... ORPHA:238459
Prothrombin Deficiency, Congenital
Ecchymosis, Menorrhagia, Gingival bleeding, Prolonged prothrombin time, Joint hemorrhage, Epistax... OMIM:613679
Trigeminal Neuralgia
Allodynia, Mandibular pain, Trigeminal neuralgia, Ocular pain ORPHA:221091
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Bernard-Soulier Syndrome
Macroscopic hematuria, Menorrhagia, Gingival bleeding, Petechiae, Decreased platelet glycoprotein... ORPHA:274
Complex Regional Pain Syndrome
Allodynia, Limb pain ORPHA:83452
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:188025
Hermansky-Pudlak Syndrome 7
Abnormal bleeding, Epistaxis, Impaired platelet aggregation, Bruising susceptibility OMIM:614076
Immunodeficiency 81
Petechiae, Recurrent cutaneous abscess formation, Reduced natural killer cell activity, Impaired ... OMIM:619374
Premature Ovarian Failure 19
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency OMIM:619245
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Juvenile colonic polyposis, Adenomatous colonic polyposis, Colon ... OMIM:610069
Hermansky-Pudlak Syndrome 6
Epistaxis, Abnormal platelet granules, Prolonged bleeding time, Impaired ADP-induced platelet agg... OMIM:614075
Bleeding Disorder, Platelet-Type, 17
Ecchymosis, Petechiae, Epistaxis, Absence of alpha granules, Gastrointestinal hemorrhage, Prolong... OMIM:187900
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Epistaxis, Prolonged bleeding time, Thrombocytopenia, Bruising susceptibility OMIM:314050
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia, Abdominal pain, Back pain ORPHA:51890
Colonic Atresia
Colonic atresia OMIM:303650
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Skin rash ORPHA:1059
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneumococcal antib... OMIM:617006
Storage Pool Platelet Disease
Decreased mean platelet volume, Prolonged bleeding time, Abnormal bleeding OMIM:185050
Congenital Factor Ii Deficiency
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... ORPHA:325
Ovarian Dysgenesis 3
Primary amenorrhea OMIM:614324
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Tubulointerstitial nephritis, Lymphadenopathy, Decreased glomerular filtration rate... ORPHA:85450
Hermansky-Pudlak Syndrome 5
Menorrhagia, Epistaxis, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia, Bruising su... OMIM:614074
Neurotrophic Keratopathy
Allodynia, Anterior uveitis ORPHA:137596
5-Oxoprolinase Deficiency
Prolinuria, Vomiting, Calcium oxalate nephrolithiasis, Enterocolitis, Diarrhea, Increased level o... OMIM:260005
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Impaired platelet aggregation, Nephrocalcinosis, Increased ... OMIM:241200
Combined Deficiency Of Factor V And Factor Viii
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Hyperlipidemia, Prolonged prothrombin ti... ORPHA:35909
Trimethylaminuria
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly, Recurrent pneumonia, Trimethylaminuria OMIM:602079
Sitosterolemia 1
Arthritis, Hypercholesterolemia, Giant platelets, Abnormal bleeding, Impaired platelet aggregation OMIM:210250
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Dysphagia, High palate, Absent brainstem auditory responses, Facial palsy, Sensorineural hearing ... OMIM:617519
Bartter Syndrome, Type 1, Antenatal
Hyperactive renin-angiotensin system, Vomiting, Nephrocalcinosis, Increased urinary potassium, Hy... OMIM:601678
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Decreased circu... OMIM:300635
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Benign Schwannoma
Pain, Allodynia ORPHA:252164
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Hepatic calcification, Nephrocalcinosis, Abnormal renal resorption, Hyper... ORPHA:73224
Hermansky-Pudlak Syndrome 8
Menorrhagia, Gingival bleeding, Epistaxis, Abnormal bleeding, Impaired platelet aggregation, Brui... OMIM:614077
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Epistaxis, Impaired collagen-ind... OMIM:619172
Coproporphyria, Hereditary
Hypertension, Hepatomegaly, Constipation, Vomiting, Tachycardia, Increased fecal coproporphyrin 3... OMIM:121300
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Amyloidosis, Familial Visceral
Hypertension, Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Skin rash, Nephropathy, ... OMIM:105200
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Dystonia, Hepatomegaly, Nephrotic syndrome, Feeding difficulties, Splenomegaly... OMIM:615846
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Gingival bleeding, Colitis, Epistaxis, Prolonged bleeding ti... OMIM:203300
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Abnormal esophagus physiology, Dysphagia, Esophageal neoplasm, Abnormal large intestine morpholog... ORPHA:2198
Congenital Factor X Deficiency
Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:328
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Inflammation of the large intestine, Neutropenia, Abnormal platelet function, ... ORPHA:906
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Hypotonia, Death in infancy, Hepatocellular necrosis, ... OMIM:201475
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypo... OMIM:602390
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Seborrheic dermatitis, Elevated urinary prostaglandin E2 level, Acne OMIM:167100
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Eczema, Inflammation of the large intestine, Gingival bleeding, Pneumonia, Increased c... OMIM:600903
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Chronic otitis media, Bone marrow hypocellularity, Prolonged bleeding ti... ORPHA:3226
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplastic nipples, Impaired platele... ORPHA:79329
Wolfram Syndrome 2
Abnormal bleeding, Decreased circulating antibody level, Neurogenic bladder, Impaired collagen-in... OMIM:604928
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hyperlipidemia, Increased hepatic glycogen content, Tubuloin... ORPHA:79259
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Recurrent otitis media, Splenomegal... OMIM:618495
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Death in infancy, Cardiomyopathy, Splenomegaly, Hypogonadism, Generalized hypotonia... OMIM:608540
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Splenomegaly OMIM:615947
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Chronic diarrhea, Recurrent ... OMIM:619164
Familial Cold Urticaria
Polydipsia, Arthritis, Arthralgia, Myalgia, Fatigue, Abdominal pain, Conjunctivitis ORPHA:47045
Infantile Bartter Syndrome With Sensorineural Deafness
Hypotonia, Hyperactive renin-angiotensin system, Vomiting, Nephrocalcinosis, Increased urinary po... ORPHA:89938
Autoinflammation With Infantile Enterocolitis
Feeding difficulties in infancy, Villous atrophy, Thrombocytopenia, Reduced natural killer cell a... OMIM:616050
Gastric Volvulus, Intrathoracic
Volvulus, Hiatus hernia OMIM:137210
Klippel-Trénaunay Syndrome
Hematuria, Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage ORPHA:90308
Autosomal Dominant Polycystic Kidney Disease
Hypertension, Pancreatic cysts, Reduced sperm motility, Pituitary growth hormone cell adenoma, De... ORPHA:730
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Intestinal pseudo-obstruction, Functional intestinal obstruction, Intestin... OMIM:243180
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Thrombocytopenia, Abnormal platelet morphology, Impaired platelet aggregation OMIM:300835
Essential Thrombocythemia
Abnormality of thrombocytes, Abnormal platelet morphology, Prolonged bleeding time ORPHA:3318
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Pneumonia, Stomatitis, Lymphadenitis, Nephroti... ORPHA:911
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cel... ORPHA:3261
Congenital Factor Vii Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... ORPHA:327
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... OMIM:601596
Shigellosis
Myocarditis, Tenesmus, Hemolytic-uremic syndrome, Uveitis, Abdominal pain, Conjunctivitis, Leukoc... ORPHA:810
Linear Iga Dermatosis
Renal neoplasm, Epistaxis, Inflammation of the large intestine ORPHA:46488
Galactosemia Iii
Hepatomegaly, Vomiting, Splenomegaly, Generalized hypotonia, Hypotonia, Aminoaciduria, Galactosur... OMIM:230350
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Inflammation of the large intestine, Death in infancy, Esophageal varix, Pancytopen... OMIM:614576
Mixed Connective Tissue Disease
Myocarditis, Keratoconjunctivitis sicca, Pericarditis, Myositis, Arthritis, Gastritis, Gastrointe... ORPHA:809
Cutaneous Photosensitivity And Colitis, Lethal
Death in infancy, Colitis, Diarrhea OMIM:219095
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Decreased platelet glycoprotein Ib, Aortic regurgitation, Pulmonary hemorrhage, Macr... OMIM:603585
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia OMIM:613148
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell activity, Enlarged platelet dense granules, Absent platelet dense gra... OMIM:608233
Sepsis In Premature Infants
Leukocytosis, Hepatomegaly, Neutropenia, Vomiting, Functional abnormality of the gastrointestinal... ORPHA:90051
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Bloody diarrhea, Anemia, Ulcerative colitis OMIM:619398
Infantile Sialic Acid Storage Disease
Hepatomegaly, High palate, Nephrotic syndrome, Ascites, Vacuolated lymphocytes, Cardiomegaly, Spl... OMIM:269920
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Lymphadenopathy, Splenomegaly, Uveitis, Type I diabetes mell... OMIM:614700
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Infectious encephalitis, Erythroderma, Neutropenia, Lymphadenopathy, Abnormal renal... ORPHA:540
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczema, Abnormal intestine morphology, Tubulointerstitial nephritis, Neutropenia, Neutropenia in ... ORPHA:37042
Leukocyte Adhesion Deficiency
Sinusitis, Recurrent aphthous stomatitis, Hemolytic-uremic syndrome, Impaired platelet aggregatio... ORPHA:2968
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, I... OMIM:619350
Ataxia-Pancytopenia Syndrome
Decreased circulating antibody level, Abnormal platelet function ORPHA:2585
Autoimmune Hepatitis
Spider hemangioma, Inflammation of the large intestine, Hepatocellular carcinoma, Ascites, Sclero... ORPHA:2137
Pregnancy Loss, Recurrent, Susceptibility To, 3
Recurrent spontaneous abortion OMIM:614391
Pregnancy Loss, Recurrent, Susceptibility To, 2
Recurrent spontaneous abortion OMIM:614390
Pregnancy Loss, Recurrent, Susceptibility To, 1
Recurrent spontaneous abortion OMIM:614389
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly, Abnormal calcium-phosphate regulating hormone level, Abnormality of t... ORPHA:417
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, Inflammation of the large intestine, B lymphocytopenia, Monocytosis... OMIM:619281
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Menorrhagia, Intracranial hemorrhage, Superficial dermal perivascular inflammator... ORPHA:324636
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Dystonia, Nausea and vomiting, Anorexia, Neutropenia, Hepatomegaly, Feeding difficulties, Anemia,... ORPHA:79312
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Sterile arthritis, Thrombocytosis, Acne, Arthritis, Hepatosplenomegaly, Microcytic a... OMIM:604416
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension, Decreased glomerular filtration rate, Hepatic cysts, Gout, Stage 5 chronic kidney d... OMIM:618061
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, C... OMIM:618394
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Cocaine Intoxication
Tubulointerstitial nephritis, Ventricular arrhythmia, Diffuse alveolar hemorrhage, Abdominal pain... ORPHA:90068
Factor X Deficiency
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... OMIM:227600
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Rectal prolapse, Intussusception, Colonic stenosis, Diarrhea, Abdominal pain, Hypertension, Leuko... ORPHA:90038
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Dysphagia, Neutropenia, Decreased circulating IgG le... OMIM:608809
Gray Platelet Syndrome
Abnormality of thrombocytes, Abnormality of the menstrual cycle, Epistaxis, Splenomegaly, Thrombo... ORPHA:721
Hemochromatosis, Type 2B
Secondary amenorrhea, Hepatomegaly, Hepatic fibrosis, Anemia, Cardiomyopathy, Splenomegaly, Hypog... OMIM:613313
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Esophageal varix, Portal fibrosis, Splenomegaly, Diarrhea, Abnormal erythrocyte enzyme level, Hep... ORPHA:370
Immunodeficiency 48
Eczematoid dermatitis, Hepatomegaly, Pneumonia, Splenomegaly, Panhypogammaglobulinemia, Diarrhea OMIM:269840
Autoinflammatory Syndrome, Familial, Behcet-Like
Hemolytic anemia, Anterior uveitis, Ileal ulcer, Skin rash, Lymphopenia, Thrombocytopenia, Genita... OMIM:616744
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Nephrotic syndrome, Lymphadenitis, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, ... OMIM:618935
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, Abnormal intestine morphology, Neutropenia in presence of anti-neutropil antibodies, Hepa... ORPHA:391487
Macs Syndrome
Urethral stenosis, Prolonged bleeding time, Bruising susceptibility, Bronchiectasis OMIM:613075
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypotonia, Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Celiac disea... OMIM:618969
Autoimmune Lymphoproliferative Syndrome, Type Iii
Lymphadenopathy, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, ... OMIM:615559
Wiskott-Aldrich Syndrome
Eczema, Inflammation of the large intestine, Gingival bleeding, Petechiae, Increased circulating ... OMIM:301000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Hypertension, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortic... OMIM:174000
Glycogen Storage Disease Ia
Hypertension, Focal segmental glomerulosclerosis, Hepatomegaly, Hyperlipidemia, Hepatocellular ca... OMIM:232200
Galactose Epimerase Deficiency
Nausea and vomiting, Hepatomegaly, Feeding difficulties, Splenomegaly, Hypotonia, Aminoaciduria, ... ORPHA:79238
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Lymphadenopathy, Decreased circulating antibody... ORPHA:2442
Babesiosis
Nausea and vomiting, Hepatomegaly, Anorexia, Leukopenia, Splenomegaly, Myocardial infarction, Con... ORPHA:108
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Hypertension, Secondary amenorrhea, Maternal diabetes, Dysmenorrhea,... ORPHA:79083
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Esophageal varix, Portal fibrosis, Splenomegaly, Diarrhea, Abnormal erythrocyte enzyme level, Hep... ORPHA:264580
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Eczema, Pneumonia, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Otitis media, ... OMIM:608971
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Prolonged prothrombin time, Hepatitis, Splenomeg... ORPHA:171
Hemochromatosis, Type 1
Testicular atrophy, Telangiectasia, Hepatomegaly, Amenorrhea, Azoospermia, Hepatocellular carcino... OMIM:235200
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Glycogen Storage Disease Ib
Hypertension, Focal segmental glomerulosclerosis, Hepatomegaly, Neutropenia, Hyperlipidemia, Hepa... OMIM:232220
Primary Lipodystrophy
Hypertension, Type II diabetes mellitus, Hyperlipidemia, Polycystic ovaries, Cardiomyopathy, Panc... ORPHA:90970
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Secondary amenorrhea, Hepatomegaly, Dysmenorrhea, Polycystic ovaries... ORPHA:2348
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, female, Isosexual ... ORPHA:90795
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Agammaglobulinemia, Infectious encephalitis, Villous atrophy, Neutropenia, Biliary t... OMIM:209920
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Chronic kidney diseas... ORPHA:340
Type 1 Diabetes Mellitus
Autoimmunity, Polyphagia, Polydipsia OMIM:222100
Zygomycosis
Myocarditis, Sinusitis, Colon perforation, Neutropenia, Fasciitis, Hepatitis, Melena, Gastritis, ... ORPHA:73263
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, Hepatic cysts, Colonic eosinophili... OMIM:618999
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Septic arthritis, Intussusception, Diabetes mellitus, Diarrhea, Hemolytic anemia, Ab... ORPHA:544482
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Cholangitis, Eczema, Feeding difficulties in infancy, Portal fibrosis, Ab... ORPHA:3260
Autoimmune Lymphoproliferative Syndrome, Type Iia
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:603909
Cryoglobulinemic Vasculitis
Keratoconjunctivitis sicca, Hepatomegaly, Gastrointestinal infarctions, Mediastinal lymphadenopat... ORPHA:91138
Familial Mediterranean Fever
Lymphadenopathy, Splenomegaly, Vasculitis, Nephropathy, Diarrhea, Abdominal pain, Nausea and vomi... ORPHA:342
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Legionnaires Disease
Myocarditis, Nausea and vomiting, Anorexia, Pericarditis, Infectious encephalitis, Endocarditis, ... ORPHA:549
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Increased serum testosterone level, Aplasia of the uterus, Hy... ORPHA:90794
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Mucoid diarrhea, Decreased proportion of class-switched memo... OMIM:615767
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Urinary retention, Amenorrhea, Dysuria, Ac... ORPHA:2795
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine, Diabetes mellitus ORPHA:46487
Cholestasis-Lymphedema Syndrome
Nausea and vomiting, Hepatomegaly, Hyperlipidemia, Acholic stools, Abnormality of urine homeostas... ORPHA:1414
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Colitis, Congenital hypothyroidism ORPHA:88643
Muckle-Wells Syndrome
Hepatomegaly, Episcleritis, Nephrotic syndrome, Abdominal pain, Anemia, Arthritis, Splenomegaly, ... ORPHA:575
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Jaundice, Skin rash, Hypertrigl... OMIM:603552
Gaucher Disease Type 2
Dystonia, Dysphagia, Hepatomegaly, Splenomegaly, Cardiac arrest, Spasticity ORPHA:77260
Immunodeficiency 58
Eczema, Allergic rhinitis, Decreased specific antibody response to vaccination, Dysphagia, Helico... OMIM:618131
Burkitt Lymphoma
Nausea and vomiting, Abnormality of the ovary, Abnormality of the spleen, Abnormality of the lymp... ORPHA:543
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Anemia, Malabsorption... ORPHA:100025
Whipple Disease
Myocarditis, Pericarditis, Respiratory insufficiency, Polydipsia, Infectious encephalitis, Myosit... ORPHA:3452
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Asc... ORPHA:314478
Glycogen Storage Disease Ic
Spider hemangioma, Hypertension, Focal segmental glomerulosclerosis, Hepatomegaly, Hyperlipidemia... OMIM:232240
Symptomatic Form Of Hemochromatosis Type 1
Cholangiocarcinoma, Splenomegaly, Diabetes mellitus, Portal hypertension, Abdominal pain, Inferti... ORPHA:465508
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Neutropenia, Splenomegaly, Maculopapular exanthema, Hyperkeratosis, Pancy... ORPHA:398124
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Stercoral ul... ORPHA:263665
Rheumatoid Arthritis
Polyarticular arthritis, Rheumatoid factor positive, Arthralgia, Fatigue, Vasculitis, Rheumatoid ... OMIM:180300
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Glomer... ORPHA:93126
Neuraminidase Deficiency
Hepatomegaly, Ascites, Vacuolated lymphocytes, Urinary excretion of sialylated oligosaccharides, ... OMIM:256550
Typhoid
Hepatomegaly, Infectious encephalitis, Epistaxis, Splenomegaly, Gastrointestinal hemorrhage, Hype... ORPHA:99745
Immunodeficiency 37
Decreased circulating antibody level, Colitis, Infectious encephalitis, Decreased proportion of c... OMIM:616098
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Syndromic Diarrhea
Hypoplasia of the thymus, Splenomegaly, Gastritis, Increased mean platelet volume, Villous atroph... ORPHA:84064
Cyclic Neutropenia
Sinusitis, Peritonitis, Lymphadenopathy, Decreased eosinophil count, Recurrent tonsillitis, Perio... ORPHA:2686
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Systemic lupus erythematosus, Rheumatoid arthritis, Limitation of joint mobility, G... ORPHA:399180
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Skin rash, Hypertriglyceridemia OMIM:619175
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Glomerulopathy, Hepatomegaly, Episcleritis, Ascites, Lymphadenopathy, Hematu... ORPHA:36412
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Hypertension, Prolonged QT interval, Oligomenorrh... ORPHA:79443
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... ORPHA:100024
Secondary Short Bowel Syndrome
Central hypothyroidism, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestin... ORPHA:95427
Mohr-Tranebjaerg Syndrome
Optic atrophy, Dysphagia, Abnormality of somatosensory evoked potentials, Absent brainstem audito... ORPHA:52368
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Cleft palate, Sensorineural h... OMIM:201050
Fetal Gaucher Disease
Abnormality of the spleen, Hepatomegaly, Intracranial hemorrhage, Death in infancy, High palate, ... ORPHA:85212
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hypertension, Hepatomegaly, Esophageal varix, Pancreatic cysts, Neonatal death, Tubulointerstitia... OMIM:263200
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Infectious encephalitis, Neutropenia, Lymphadenopathy, Reduced natural killer cell ... OMIM:308240
Coach Syndrome 1
Hypertension, Dystonia, Hepatomegaly, Esophageal varix, Hepatic fibrosis, Nephronophthisis, Multi... OMIM:216360
Schnitzler Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Arthritis, Splenomegaly, Vasculitis, Increas... ORPHA:37748
Scrub Typhus
Myocarditis, Nausea and vomiting, Infectious encephalitis, Lymphadenopathy, Anterior uveitis, Spl... ORPHA:83317
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Splenomegaly, Hypertrophic cardiomyopathy, Nephrotic syndrome, Bone marrow hypocellu... OMIM:617303
Adrenocortical Carcinoma
Hypertension, Increased urinary cortisol level, Abnormality of reproductive system physiology, In... ORPHA:1501
Immunodeficiency 52
Death in infancy, Bronchiectasis, Lymphadenopathy, Coombs-positive hemolytic anemia, Increased pr... OMIM:617514
Congenital Factor Xiii Deficiency
Cerebral hemorrhage, Recurrent spontaneous abortion, Menorrhagia, Inflammation of the large intes... ORPHA:331
Beta-Thalassemia Intermedia
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Anemia of inadequate ... ORPHA:231222
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Prolonged prothrombin time, Epistaxis, Abnormal bleeding OMIM:610842
Pseudomyxoma Peritonei
Nausea and vomiting, Inflammation of the large intestine, Ascites, Lymphadenopathy, Abnormality o... ORPHA:26790
Oligomeganephronia
Bilateral renal hypoplasia, Hypertension, Renal tubular atrophy, Abnormal nephron morphology, Abn... ORPHA:2260
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... OMIM:142623
Enterocolitis
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis OMIM:226150
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Pericarditis, Anterior uveitis, Arthralgia, Joint swelling, Juvenile rheumatoid art... ORPHA:85414
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Acne, Arthritis, Palmoplantar pustu... ORPHA:324964
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Dysmenorrhea, Oligomenorrhea, Vomiting, Hepatocellular carcinoma, Na... ORPHA:79240
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Gastritis, Chr... OMIM:619079
Lcat Deficiency
Hemolytic anemia, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Acute kid... ORPHA:650
Autoimmune Hemolytic Anemia
Hemolytic anemia, Splenomegaly, Congestive heart failure, Abnormal urinary color, Arrhythmia, Abd... ORPHA:98375
Pediatric-Onset Graves Disease
Hypertension, Nausea and vomiting, Increased circulating T4 level, Hepatomegaly, Atrial fibrillat... ORPHA:525731
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Increased serum testosterone level, Cleft palate, Renal agenesis, Abnor... ORPHA:247768
Roifman Syndrome
Hepatomegaly, Eczema, Noncompaction cardiomyopathy, Lymphadenopathy, Recurrent otitis media, Sple... OMIM:616651
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Intestinal obstruction, Crohn's disease, Rec... OMIM:266600
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Bloody diarrhea, Leukocytosis, Protracted diarrhea, Gastrointestinal d... ORPHA:67
American Trypanosomiasis
Myocarditis, Hepatomegaly, Aganglionic megacolon, Infectious encephalitis, Abnormal large intesti... ORPHA:3386
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Oroticaciduria, Decreased glomerular filtration rate, Decreased cir... ORPHA:470
Microcolon
Microcolon OMIM:251400
Crimean-Congo Hemorrhagic Fever
Myocarditis, Adrenal insufficiency, Thrombocytopenia, Subdural hemorrhage, Lymphadenopathy, Melen... ORPHA:99827
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Hemophagocytosis, Neutropenia, Hepatocellular carcinoma, Abnormal r... ORPHA:158057
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Abnormal hem... ORPHA:848
Sickle Cell Anemia
Hypertension, Leukocytosis, Hepatomegaly, Priapism, Hematuria, Cardiomegaly, Cholelithiasis, Sple... OMIM:603903
Hereditary Renal Hypouricemia
Uric acid urolithiasis independent of gout, Vomiting, Nausea, Abnormal renal physiology, Hematuri... ORPHA:94088
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Death in infancy, Esophageal varix, Bone-marrow foam cells, Splenomegaly, ... OMIM:278000
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Pneumonia... OMIM:607594
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Acute hepatic fa... ORPHA:882
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Abnormality of the ureter, Ascites, Anemia, Splenomegaly, Renal hypoplasia/aplasia, ... ORPHA:1046
Nephronophthisis-Like Nephropathy 2
Cough, Polydipsia, Bronchiectasis OMIM:619468
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time, Esophagitis ORPHA:1901
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, T lymphocytopenia, Decrea... OMIM:618108
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypotonia, Increased urinary potassium, Decreased glomerular filtration rate, Tubulointerstitial ... OMIM:602522
Autosomal Dominant Optic Atrophy Plus Syndrome
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Temporal op... ORPHA:1215
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Chédiak-Higashi Syndrome
Neutropenia, Abnormal platelet function, Lymphadenopathy, Splenomegaly, Periodontitis, Hepatosple... ORPHA:167
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Celiac disease, Decreased pr... OMIM:619375
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Gastrointestinal hemorrhage, Neonatal chole... ORPHA:79301
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypotonia, Increased urinary potassium, Decreased glomerular filtration rate, Renal insufficiency... OMIM:613090
Acquired Purpura Fulminans
Intracranial hemorrhage, Macular purpura, Prolonged prothrombin time, Skin rash, Thrombocytopenia... ORPHA:49566
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Colitis, Hepatitis, Cirrhosis, Diarrhea OMIM:614602
Overlap Myositis
Constitutional symptom, Hypertension, Dysphagia, Autoimmunity, Limb pain, Pulmonary arterial hype... ORPHA:206572
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Feeding difficulties in infancy, Generalized aminoaciduria, Hepatocellular necrosis... OMIM:251880
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypospadias, Oligospermia, Increased circulating progesterone, Adrenal hyperplasia, Fused labia m... ORPHA:95699
Orthostatic Hypotension 2
Orthostatic hypotension, Decreased glomerular filtration rate OMIM:618182
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis OMIM:613960
Familial Mediterranean Fever
Leukocytosis, Hepatomegaly, Pericarditis, Nephrotic syndrome, Peritonitis, Vomiting, Arthritis, S... OMIM:249100
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Impaired T cell function, Neutropenia in presence of anti-neutropil antibod... OMIM:613179
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Lymphadenopathy, Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Decreased c... OMIM:619381
Noonan Syndrome
Abnormality of the spleen, Feeding difficulties in infancy, High palate, Hepatomegaly, Abnormal p... ORPHA:648
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Anorexia, Enlarged mesenteric lymph node, Pneumonia, Lymphadenopath... OMIM:209950
Felty Syndrome
Sinusitis, Hepatomegaly, Pericarditis, Episcleritis, Synovitis, Neutropenia, Chronic otitis media... ORPHA:47612
Thymoma
Prostate neoplasm, Imbalanced hemoglobin synthesis, Myositis, Neoplasm of the gastrointestinal tr... ORPHA:99867
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Bronchiectasis, Decreased circulating IgA level, Impaired T... OMIM:240500
Solitary Rectal Ulcer Syndrome
Stercoral ulcer, Rectal prolapse, Anal fissure, Hematochezia ORPHA:209964
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegaly, Primary ... OMIM:612526
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertrophic cardiomyopathy, Secondary amenorrhea, Hepatomegaly, Dysmenorrhea, Ventricular arrhyt... ORPHA:280365
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Bronchiectasis, Lym... OMIM:300853
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative disorder, Eosinophilia OMIM:607685
Prolidase Deficiency
Hepatomegaly, Diffuse telangiectasia, Eczema, High palate, Thrombocytopenia, Anemia, Splenomegaly... OMIM:170100
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysphagia, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate... ORPHA:488627
Gaucher Disease Type 1
Hepatomegaly, Anorexia, Ascites, Leukopenia, Biliary tract obstruction, Hematuria, Pulmonary arte... ORPHA:77259
Congenital Fibrinogen Deficiency
Gingival bleeding, Prolonged prothrombin time, Subcutaneous hemorrhage, Micropenis, Abnormal blee... ORPHA:335
Bardet-Biedl Syndrome 1
Hypertension, High, narrow palate, High palate, Aganglionic megacolon, Abnormality of the ovary, ... OMIM:209900
Addison Disease
Androgen insufficiency, Decreased female libido, Adrenal hypoplasia, Type I diabetes mellitus, Pr... ORPHA:85138
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Abnormal drinking behavior, Pulmonary arterial hypertension, Abnor... ORPHA:209905
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Decreased circulating pa... OMIM:601198
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Splenomegaly, Congestive heart failure, Abnormal urinary color, Autoimmune hemolytic... ORPHA:90037
Majeed Syndrome
Inflammatory abnormality of the skin, Abnormal inflammatory response, Leukocytosis, Hepatomegaly,... ORPHA:77297
Lipodystrophy, Congenital Generalized, Type 2
Hypertrophic cardiomyopathy, Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycy... OMIM:269700
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Chronic diarrhea, Recurrent pneumonia, Urethral stricture, Hyperkeratosis, Colitis OMIM:301220
Lymphoid Interstitial Pneumonia
Wheezing, Hypoxemia, Autoimmunity, Eczema, Keratoconjunctivitis sicca, Crackles, Bronchiectasis, ... ORPHA:79128
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... OMIM:615234
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Cardiomyopathy,... OMIM:608594
Late-Infantile/Juvenile Krabbe Disease
Neuromuscular dysphagia, EEG with persistent abnormal rhythmic activity, Decreased nerve conducti... ORPHA:206443
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Mediastinal lymphadenopathy, Bronchiectas... OMIM:618534
Plague
Inflammation of the large intestine, Splenomegaly, Diarrhea, Abdominal pain, Enlarged mesenteric ... ORPHA:707
Intussusception
Intussusception OMIM:147710
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Eczema, Esophageal varix, Lymphadenopathy, Decreased circulating antibody... OMIM:615688
Sapho Syndrome
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Arthritis... ORPHA:793
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Gist-Plus Syndrome
Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis OMIM:175510
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG le... OMIM:607271
Behçet Disease
Retrobulbar optic neuritis, Lymphadenopathy, Cerebral ischemia, Optic neuritis, Splenomegaly, Gas... ORPHA:117
Turner Syndrome Due To Structural X Chromosome Anomalies
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Female infertility, Pr... ORPHA:99413
Acquired Idiopathic Sideroblastic Anemia
Thrombocytosis, Leukocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Turner Syndrome
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Female infertility, Pr... ORPHA:881
Mosaic Monosomy X
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Female infertility, Pr... ORPHA:99228
Monosomy X
Secondary amenorrhea, Inflammation of the large intestine, Hyperlipidemia, Female infertility, Pr... ORPHA:99226
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Meconium Ileus
Meconium ileus, Microcolon OMIM:614665
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Hepatomegaly, Increased circulating IgA level, Increased circulating ... OMIM:617388
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Splenomegaly, Hypogonadism, Poor appetite, Diarrhea, Decr... OMIM:201100
Brucellosis
Myocarditis, Lymphadenopathy, Knee osteoarthritis, Septic arthritis, Splenomegaly, Hypersplenism,... ORPHA:1304
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Vomiting, Splenomegaly, Increased urinary porphobilinogen, Reticu... OMIM:618892
Acquired Von Willebrand Syndrome
Menorrhagia, Intracranial hemorrhage, Prolonged prothrombin time, Joint hemorrhage, Epistaxis, He... ORPHA:99147
Omenn Syndrome
Leukocytosis, Hepatomegaly, Erythroderma, Nephrotic syndrome, Pneumonia, Lymphadenopathy, Abnorma... ORPHA:39041
Congenital Tufting Enteropathy
Villous atrophy, Malabsorption, Optic disc coloboma, Anal atresia, Abnormal small intestinal muco... ORPHA:92050
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Hepatomegaly, Bronchiectasis, Decreased circulating IgA level, L... OMIM:616100
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Ascites, Prolonged prothrombin time, Leukopenia, Anem... ORPHA:64743
Q Fever
Myocarditis, Lymphadenopathy, Hepatitis, Splenomegaly, Hepatosplenomegaly, Vasculitis, Maculopapu... ORPHA:781
Familial Hyperaldosteronism Type I
Hypertension, Intracranial hemorrhage, Epistaxis, Polydipsia ORPHA:403
Distal Renal Tubular Acidosis
Hemolytic anemia, Hyperphosphaturia, Aminoaciduria, Vomiting, Nephrocalcinosis, Proximal tubulopa... ORPHA:18
Reactive Arthritis
Inflammation of the large intestine, Pericarditis, Pustule, Aortic regurgitation, Arthritis, Oste... ORPHA:29207
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Hepatomegaly, Inflammation of the large intestine, Anorexia, ... OMIM:181000
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Pancreatic cysts, Abnormal lymphatic vessel morphology, Subconjunctival hemo... ORPHA:464329
Sweet Syndrome
Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Inflammation of the large intes... ORPHA:3243
Kindler Epidermolysis Bullosa
Dysphagia, Inflammation of the large intestine, Cheilitis, Phimosis, Abnormality of the anus, Eso... ORPHA:2908
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased specific pneumococcal antibody level, Dec... OMIM:615513
Spondyloarthropathy, Susceptibility To, 1
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... OMIM:106300
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticuloc... OMIM:613673
Zollinger-Ellison Syndrome
Duodenal ulcer, Increased circulating cortisol level, Gastrointestinal hemorrhage, Pituitary cort... ORPHA:913
Hyperparathyroidism, Neonatal Severe
Elevated circulating parathyroid hormone level, Hyperphosphaturia, Feeding difficulties in infanc... OMIM:239200
Scheie Syndrome
Hepatomegaly, Mucopolysacchariduria, Rhinitis, Aortic regurgitation, Splenomegaly, Spastic parapa... ORPHA:93474
Radiation Proctitis
Abnormality of gastrointestinal vasculature, Intestinal obstruction, Abnormal rectum morphology, ... ORPHA:70475
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Skin rash, Pancytopenia, ... OMIM:618963
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Increased serum testosterone level, Gonadal dys... ORPHA:206484
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis OMIM:612567
Ochoa Syndrome
Bowel incontinence, Urinary incontinence, Hypertension, Polydipsia ORPHA:2704
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Epistaxis, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepa... OMIM:612840
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Hyperlipidemia, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver ... OMIM:214900
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Third degree atrioventricular block, Cleft palate, Increased fecal calpro... OMIM:619573
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... OMIM:263300
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Esophageal varix, Splenomegaly, Hypercholesterolemia, Cirrhosi... ORPHA:75234
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Abnorm... ORPHA:90033
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Normochro... ORPHA:91500
Familial Hyperaldosteronism Type Iii
Hypertension, Intracranial hemorrhage, Prolonged QT interval, Polydipsia, Epistaxis ORPHA:251274
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Esophageal varix, Cholangiocarcinoma, Spl... ORPHA:731
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Decreased mean platelet volume, Lymphadenopathy, Vasculitis,... OMIM:617718
Relapsing Fever
Prolonged prothrombin time, Abnormality of the urinary system, Hematuria, Epistaxis, Acute kidney... ORPHA:91547
Hurler-Scheie Syndrome
Hepatomegaly, Rhinitis, Abnormality of the tonsils, Cardiomyopathy, Splenomegaly ORPHA:93476
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Gaucher Disease, Type Ii
Hepatomegaly, Dysphagia, Recurrent aspiration pneumonia, Rigidity, Feeding difficulties, Protuber... OMIM:230900
Pearson Syndrome
Adrenal insufficiency, Neutropenia, Lacticaciduria, Cardiac conduction abnormality, Splenomegaly,... ORPHA:699
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Syncope, Abnormal T-wave, Inflammation of the large intestine, Palpita... ORPHA:70591
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Feeding difficulties in infancy, Death in infancy, Cardiomyopathy, Splenomegal... OMIM:619046
Triosephosphate Isomerase Deficiency
Dystonia, Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Generalized hypot... OMIM:615512
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, D... ORPHA:231226
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Oligoarthritis, Knee osteoarthritis, Joint hypermobility, Uveitis, Rheumatoid arthr... ORPHA:85410
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Anemia, Stillbirth, Spastic tetraplegia, Splenomegaly, Decreased osteoclas... OMIM:259720
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Ascites, Pulmonary arterial hypertension, Tricuspid regurgitation, Pulmonic stenosi... ORPHA:2414
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinosis, Decreased cir... OMIM:616084
Budd-Chiari Syndrome
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Ascites, Peritonitis, Malabsorption... ORPHA:131
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Hydronephrosis, Cleft palate, High palate, Neutropenia, Mitral regurgitation, Monoc... OMIM:612541
Aicardi-Goutieres Syndrome 1
Dystonia, Feeding difficulties in infancy, Hepatomegaly, Diabetes insipidus, Thrombocytopenia, Mu... OMIM:225750
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Intestinal pseudo-obstruction, Macroglossia, Recurrent otitis media, Splenomegaly, ... OMIM:309900
Lysinuric Protein Intolerance
Hepatomegaly, Oroticaciduria, Vomiting, Nausea, Leukopenia, Anemia, Pancreatitis, Pulmonary hemor... OMIM:222700
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Death in infancy, Abnormality ... OMIM:230500
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:609136
Oculoskeletodental Syndrome
Hepatomegaly, Mucopolysacchariduria, Renal agenesis, Macroglossia, Splenomegaly, Hypothyroidism, ... OMIM:618440
Hardikar Syndrome
Cholangitis, Decreased serum insulin-like growth factor 1, Esophageal varix, Intrahepatic bile du... OMIM:301068
Hurler Syndrome
Hypertension, Mucopolysacchariduria, Death in infancy, Hepatomegaly, Rhinitis, Macroglossia, Feed... ORPHA:93473
Triglyceride Deposit Cardiomyovasculopathy
Inflammatory abnormality of the skin, Hepatomegaly, Hyperlipidemia, Palpitations, Vacuolated lymp... ORPHA:565612
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, Hydronephrosis, Death in infancy, Cleft palate, High pa... OMIM:235255
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Feeding difficulties in infancy, Pancytopenia, Decreased circulating IgA level, Hep... OMIM:613385
Myasthenia Gravis
Dysphagia, Anti-acetylcholine receptor antibody positivity, Myositis, Hepatitis, Systemic lupus e... ORPHA:589
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Prolonged prothrombin time, Renal cyst, Dark urine, Steatorrhea ORPHA:79303
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Renal angiomyolipoma,... ORPHA:276152
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly, Diarrhea, Heparan sulfate excretion in urine, Asymmetric septal hyper... OMIM:252900
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... OMIM:223320
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Hepatomegaly, Dysphagia, Prolonged QT interval, Atrial fibrillation, Decreased ... OMIM:613327
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Nephropathy OMIM:242530
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Congestive heart failure ORPHA:163596
Free Sialic Acid Storage Disease
Hepatomegaly, Nephrotic syndrome, Ascites, Splenomegaly, Spasticity, Hypotonia, Proteinuria ORPHA:834
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Hepatitis, Bone marrow hypocellularity, Ar... ORPHA:829
Waldenström Macroglobulinemia
Hepatomegaly, Anorexia, Normocytic anemia, Leukemia, Monoclonal immunoglobulin M proteinemia, Lym... ORPHA:33226
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Diarrhea, Heparan sulfate excretion in urine, Asymmetri... OMIM:252920
Gamma-Heavy Chain Disease
Autoimmunity, Dysphagia, Autoimmune thrombocytopenia, Fatigue, Rheumatoid arthritis, Skin rash, A... ORPHA:100026
Refsum Disease
Cardiomyopathy, Heart block, Splenomegaly, Hypotonia, Renal insufficiency ORPHA:773
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Ascites, Epistaxis, Nodular regenerativ... OMIM:619463
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, High palate, Hearing impairment OMIM:193700
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Feeding difficulties in infancy, Cleft palate, Renal cyst, Intrahepatic biliary dys... OMIM:614866
Pseudo-Torch Syndrome 1
Hepatomegaly, High palate, Splenomegaly, Decreased liver function, Spasticity, Thrombocytopenia, ... OMIM:251290
Ovarian Fibroma
Abnormality of the ovary, Ascites, Peritonitis, Abdominal distention, Mesenteric cyst, Ovarian fi... ORPHA:314473
Systemic Mastocytosis With Associated Hematologic Neoplasm
Syncope, Lymphadenopathy, Normochromic anemia, Chronic myelomonocytic leukemia, Splenomegaly, Eos... ORPHA:98849
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Infectious encephalitis, Pancytopenia, Leukopenia, Prolonged prothrombin time, Lymp... OMIM:603553
African Trypanosomiasis
Myocarditis, Abnormal prolactin level, Third degree atrioventricular block, Abnormality of renin-... ORPHA:3385
Biotinidase Deficiency
Hepatomegaly, Feeding difficulties in infancy, Vomiting, Seborrheic dermatitis, Splenomegaly, Rec... OMIM:253260
Selective Igm Deficiency
Autoimmunity, Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Fa... ORPHA:331235
Griscelli Syndrome
Pyloric stenosis, Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypo... ORPHA:381
Erdheim-Chester Disease
Polydipsia, Cough, Osteomyelitis, Joint swelling, Fatigue, Congestive heart failure, Increased bo... ORPHA:35687
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Decreased circulating antibody level, EBV encephalitis, S... OMIM:615122
Caroli Disease
Cholangitis, Esophageal varix, Cholangiocarcinoma, Splenomegaly, Intrahepatic cholestasis, Portal... ORPHA:53035
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Increased red blood cell mass, Splenomegaly, Myocardial infarc... OMIM:133100
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... ORPHA:48104
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Hepatitis, Anemia, Arthritis, Acute hepatitis, ... ORPHA:905
Gitelman Syndrome
Prolonged QT interval, Chondrocalcinosis, Polydipsia, Palpitations, Ventricular tachycardia, Salt... OMIM:263800
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Esophageal stenosi... OMIM:615190
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hepatomegaly, Hydronephrosis, High palate, Ascites, Abdominal distent... ORPHA:1655
Iga Pemphigus
Pustule, Acantholysis, Increased circulating IgA level, Neutrophilic infiltration of the skin, Mo... ORPHA:555905
Hyper-Igd Syndrome
Leukocytosis, Vomiting, Lymphadenitis, Increased circulating IgA level, Chronic oral candidiasis,... OMIM:260920
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Leukocytosis, Pericarditis, Vomiting, Peritonitis, Myositis, Lymphadenopathy, Fasciitis, Arthriti... ORPHA:32960
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Intracranial hemorrhage, Polydipsia, Pulmonary arterial hypertension, Epistaxis, Se... ORPHA:369929
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials OMIM:619260
Beta-Thalassemia Major
Dilated cardiomyopathy, Adrenal insufficiency, Anisopoikilocytosis, Splenomegaly, Hepatosplenomeg... ORPHA:231214
Primary Hyperoxaluria Type 1
Hyperoxaluria, Nephrocalcinosis, Hematuria, Decreased glomerular filtration rate, Dysuria, Nephro... ORPHA:93598
Noonan Syndrome 9
Prolonged prothrombin time, Hydroureter OMIM:616559
Tyrosinemia, Type I
Hypertrophic cardiomyopathy, Renal Fanconi syndrome, Hepatomegaly, Hepatocellular carcinoma, Neph... OMIM:276700
Cold Agglutinin Disease
Hemolytic anemia, Nausea and vomiting, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urin... ORPHA:56425
Indolent Systemic Mastocytosis
Hepatomegaly, Abdominal cramps, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Ski... ORPHA:98848
Trisomy 10P
Dysphagia, High palate, Abnormal auditory evoked potentials, Low voltage EEG, Rectovaginal fistul... ORPHA:171929
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Dysphagia, Splenomegaly, Diarrhea, Heparan sulfate excretion in urine, Asymmetric s... OMIM:252930
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Hepatomegaly, Mucopolysacchariduria, Macroglossia, Aortic regurgitat... OMIM:252500
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Autoimmunity, Cholangitis, Fatigue, Allergic rhinitis, Chronic sinusitis, Epididymitis, Recurrent... ORPHA:183675
Cystinosis
Fatigue, Portal hypertension, Polydipsia, Rickets ORPHA:213
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Erythroderma, Pneumonia, Lymphadenopathy, Hypoplasia of the thym... OMIM:603554
Igg4-Related Retroperitoneal Fibrosis
Anti-thyroid peroxidase antibody positivity, Hypertension, Psoriasiform dermatitis, Deep dermal p... ORPHA:49041
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Systemic lupus erythematosus, Antinuclear antibody positivity, Rheumatoid arthritis OMIM:178610
Adult-Onset Autosomal Dominant Leukodystrophy
Dysphagia, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, O... ORPHA:99027
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Aminoaciduria, Hepatic failure, Splenomegaly ORPHA:664
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Stomatitis, Hepatitis, Splenomegaly, Dysgammaglobulinemia, Hemolytic anemia, Enlarge... OMIM:308230
Histiocytosis-Lymphadenopathy Plus Syndrome
Facial telangiectasia, Hepatomegaly, Pancreatic hypoplasia, Episcleritis, Azoospermia, Lymphadeno... OMIM:602782
Charcot-Marie-Tooth Disease Type 1F
Optic nerve hypoplasia, Absent brainstem auditory responses, Decreased nerve conduction velocity,... ORPHA:101085
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Infectious encephalitis, Leukopenia, Prolonged prothrombin time, Lymphadenopathy, A... OMIM:267700
Immunodeficiency 47
Death in infancy, Decreased circulating antibody level, Splenomegaly, Accessory spleen, Decreased... OMIM:300972
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Dysphagia, Splenomegaly, Diarrhea, Heparan sulfate excretion in urine, Asymmetric s... OMIM:252940
Gaucher Disease, Type I
Hypertension, Hepatomegaly, Mitral regurgitation, Pulmonary arterial hypertension, Epistaxis, Ane... OMIM:230800
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Ileus, Splenomegaly, Hypogonadism, Microcolon, Spasticity, H... ORPHA:163746
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Lymphadenopathy, Chronic ... OMIM:150550
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, B lymphocytopenia, Hepatomegaly, Pneumonia, Decreased circulating IgA level, Reduced r... OMIM:102700
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials ORPHA:206448
Transaldolase Deficiency
Telangiectasia, Hepatomegaly, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Splenomegaly, Dec... OMIM:606003
Infantile Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Hearing impairment, Prolonged brainstem audit... ORPHA:206436
Cystinosis, Nephropathic
Renal Fanconi syndrome, Dysphagia, Generalized aminoaciduria, Hepatomegaly, Oral motor hypotonia,... OMIM:219800
Joubert Syndrome With Hepatic Defect
Hepatomegaly, Feeding difficulties in infancy, Intrahepatic biliary atresia, Congenital hepatic f... ORPHA:1454
Bardet-Biedl Syndrome 9