Gene Summary

prostaglandin-endoperoxide synthase 1
Cox-1,  cyclooxygenase 1,  COX1,  Cox-3,  Pghs1

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal auditory brainstem response Ptgs1em1(IMPC)Mbp HOM   Early adult 3.25×10-06
abnormal cecum morphology Ptgs1em1(IMPC)Mbp HOM Early adult 0.00
enlarged cecum Ptgs1em1(IMPC)Mbp HOM Early adult 0.00

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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.


XRay Images Whole Body Dorso Ventral

45 Images


XRay Images Whole Body Lateral Orientation

15 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
Matching phenotypes Source
Glanzmann Thrombasthenia 2
Decreased platelet glycoprotein IIb-IIIa, Prolonged bleeding after surgery, Impaired ADP-induced ... OMIM:619267
Athrombia, Essential
Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Thrombocytopenia 7
Impaired arachidonic acid-induced platelet aggregation, Post-partum hemorrhage, Impaired ADP-indu... OMIM:619130
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Glanzmann Thrombasthenia
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... ORPHA:849
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... OMIM:273800
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Bleeding Disorder, Platelet-Type, 18
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Bru... OMIM:615888
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired epinephrine-induced platel... OMIM:173590
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Bleeding Disorder, Platelet-Type, 22
Excessive bleeding from superficial cuts, Impaired platelet aggregation, Subcutaneous hemorrhage OMIM:618462
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Bleeding Disorder, Platelet-Type, 11
Bruising susceptibility, Ecchymosis, Epistaxis, Abnormal platelet count, Impaired collagen-induce... OMIM:614201
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis... OMIM:609821
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Post-partum hemorrhage, Impaired platelet aggregation, Thrombocytopenia, Menorrhagia, Macrothromb... OMIM:124900
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:187950
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Lynch Syndrome 1
Colon cancer OMIM:120435
Lynch Syndrome 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Purpura, Abnormal bleeding, Epistaxis, Thrombocytopenia, Gingiv... OMIM:231200
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Giant platelets OMIM:608404
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormality of the kidney, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induce... OMIM:155100
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
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 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Platelet Disorder, Undefined
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding, Impaired platelet aggregation OMIM:173420
Bleeding Disorder, Platelet-Type, 21
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Eczema, Impaired platelet aggregati... OMIM:617443
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Von Willebrand Disease, Type 3
Persistent bleeding after trauma, Abnormal bleeding, Impaired platelet aggregation, Bruising susc... OMIM:277480
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Epistaxis, Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility,... OMIM:614009
Bleeding Disorder, Platelet-Type, 16
Petechiae, Abnormal bleeding, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, P... OMIM:187800
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Epistaxis, Bruising susceptibility, Ecchymosis OMIM:614158
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Factor V Deficiency
Abnormal bleeding, Bruising susceptibility, Epistaxis, Prolonged prothrombin time, Menorrhagia, P... OMIM:227400
Hermansky-Pudlak Syndrome 7
Post-partum hemorrhage, Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Menorr... OMIM:614076
Myh9-Related Disease
Renal insufficiency, Spontaneous, recurrent epistaxis, Nephritis, Bruising susceptibility, Nephro... ORPHA:182050
Gray Platelet Syndrome
Abnormal number of alpha granules, Abnormal bleeding, Bruising susceptibility, Epistaxis, Impaire... OMIM:139090
Bleeding Disorder, Platelet-Type, 17
Petechiae, Impaired epinephrine-induced platelet aggregation, Abnormal bleeding, Bruising suscept... OMIM:187900
Bleeding Disorder, Platelet-Type, 12
Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Intestinal bleeding, Menorrhag... OMIM:605735
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea OMIM:619245
Familial Adenomatous Polyposis 2
Colon cancer, Adenomatous colonic polyposis OMIM:608456
Hemophilia B
Spontaneous, recurrent epistaxis, Hematuria, Intracranial hemorrhage, Delayed onset bleeding, Cep... ORPHA:98879
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal platelet function, Abnormal bleeding ORPHA:231393
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Epistaxis, Menorrhagi... OMIM:601709
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Bruising susceptibility, Impaired platelet aggregation, Epistax... OMIM:193400
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal alpha granule content, Impaired platelet aggregation, Bruising susceptibility, Abnormal ... OMIM:601399
Pulmonary hemorrhage, Subcutaneous hemorrhage, Abnormal bleeding, Abnormal platelet granules, Gia... ORPHA:238459
Hermansky-Pudlak Syndrome 3
Abnormal number of dense granules, Spontaneous, recurrent epistaxis, Abnormal bleeding, Bruising ... OMIM:614072
Prothrombin Deficiency, Congenital
Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged prothrombin time, Gingival bleeding, Me... OMIM:613679
Trigeminal Neuralgia
Allodynia, Mandibular pain, Trigeminal neuralgia, Ocular pain ORPHA:221091
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired collagen-related peptide-induced platelet aggregation, Petechiae, Impaired ADP-induced p... OMIM:153670
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Prolonged bleeding after surgery, Petechiae, Partially d... ORPHA:274
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Complex Regional Pain Syndrome
Allodynia, Limb pain ORPHA:83452
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Thrombocytopenia, Abnormal bleeding OMIM:188025
Immunodeficiency 81
Reduced natural killer cell activity, Petechiae, Impaired neutrophil chemotaxis, Skin rash, Reduc... OMIM:619374
Polyposis Syndrome, Hereditary Mixed, 2
Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic polyposis, Adenomatous colonic pol... OMIM:610069
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Bruising susceptibility, Epistaxis, Prolonged bleeding time, Thrombocytopenia, Increas... OMIM:314050
Hermansky-Pudlak Syndrome 9
Recurrent skin infections, Thrombocytopenia, Abnormal platelet aggregation OMIM:614171
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia, Back pain, Abdominal pain ORPHA:51890
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Colonic Atresia
Colonic atresia OMIM:303650
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Blue Rubber Bleb Nevus
Prolonged bleeding time, Skin rash, Intestinal bleeding ORPHA:1059
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Nephrotic syndrome, Podocyte foot process effacement, Minimal change glo... OMIM:617006
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Hermansky-Pudlak Syndrome 5
Impaired ADP-induced platelet aggregation, Bruising susceptibility, Absent platelet dense granule... OMIM:614074
Hereditary Amyloidosis With Primary Renal Involvement
Renal tubular atrophy, Abnormal lymph node morphology, Diarrhea, Abnormal testis morphology, Hepa... ORPHA:85450
Storage Pool Platelet Disease
Prolonged bleeding time, Decreased mean platelet volume, Abnormal bleeding OMIM:185050
Congenital Factor Ii Deficiency
Joint hemorrhage, Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, I... ORPHA:325
Neurotrophic Keratopathy
Allodynia, Anterior uveitis ORPHA:137596
Hermansky-Pudlak Syndrome 6
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis... OMIM:614075
5-Oxoprolinase Deficiency
Prolinuria, Vomiting, Enterocolitis, Diarrhea, Calcium oxalate nephrolithiasis, Abdominal pain, I... OMIM:260005
Bartter Syndrome Type 4
Impaired renal concentrating ability, Hyperaldosteronism, Vomiting, Acute kidney injury, Stage 5 ... ORPHA:89938
Bartter Syndrome, Type 2, Antenatal
Hyposthenuria, Hyperaldosteronism, Vomiting, Diarrhea, Hyperprostaglandinuria, Low-to-normal bloo... OMIM:241200
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Hearing impairment, Abnormal auditory evok... OMIM:600501
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Anemia, Splenomegaly, Trimethylaminuria, Hypertension, Recurrent pneumonia, Neutropenia, Tachycardia OMIM:602079
Bartter Syndrome, Type 1, Antenatal
Hyposthenuria, Hyperaldosteronism, Vomiting, Diarrhea, Hyperprostaglandinuria, Low-to-normal bloo... OMIM:601678
Lymphoproliferative Syndrome, X-Linked, 2
Decreased circulating antibody level, Hepatitis, Folliculitis, Erythema nodosum, Pancytopenia, In... OMIM:300635
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding follow... ORPHA:35909
Immunodeficiency 97 With Autoinflammation
Diarrhea, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomeg... OMIM:619802
Coproporphyria, Hereditary
Splenomegaly, Vomiting, Diarrhea, Abdominal pain, Increased fecal coproporphyrin 3, Jaundice, Hyp... OMIM:121300
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Sudden cardiac death, Hyperaldosteronism, Hypermagnesiuria, Co... ORPHA:73224
Neurofibromatosis-Noonan Syndrome
Prolonged bleeding time ORPHA:638
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastroesophageal reflux, Abnormal large intestine morphology, Esophageal neoplasm, Abnormal esoph... ORPHA:2198
Hermansky-Pudlak Syndrome 11
Bruising susceptibility, Epistaxis, Gingival bleeding, Menorrhagia, Reduced platelet dense granul... OMIM:619172
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Gastroesophageal reflux, High palate, Sensorineural hearing impairment, EEG abnormality, Absent b... OMIM:617519
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Allodynia, Abdominal pain, Abdominal cramps, Dysphagia OMIM:603041
Amyloidosis, Familial Visceral
Nephrotic syndrome, Skin rash, Hematuria, Hypertension, Nephropathy, Cholestasis, Hepatomegaly, P... OMIM:105200
Wiskott-Aldrich Syndrome
Sudden cardiac death, Glomerulopathy, Hypoplasia of the thymus, Eczema, Chronic leukemia, Chronic... ORPHA:906
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Sudden cardiac death, Gastroesophageal reflux, Periportal fibrosis, Reduced left ventricular ejec... OMIM:201475
Congenital Factor X Deficiency
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... ORPHA:328
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Elevated urinary prostaglandin E2 level, Seborrheic dermatitis, Acne OMIM:167100
Hemochromatosis, Type 2A
Cirrhosis, Arthritis, Infertility, Azoospermia, Congestive heart failure, Dilated cardiomyopathy,... OMIM:602390
Familial Cold Urticaria
Conjunctivitis, Arthritis, Abdominal pain, Arthralgia, Myalgia, Polydipsia, Fatigue ORPHA:47045
Sitosterolemia 1
Hypercholesterolemia, Arthritis, Abnormal bleeding, Impaired platelet aggregation, Xanthelasma, G... OMIM:210250
Deafness-Lymphedema-Leukemia Syndrome
Intracranial hemorrhage, Bruising susceptibility, Bone marrow hypocellularity, Prolonged bleeding... ORPHA:3226
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... ORPHA:320401
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent ... OMIM:613101
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Diarrhea, Hepatocellular carcinoma, Hepatic steatosis, Hyperlipidemia, Hyperchole... ORPHA:79259
Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Decreased circulating antibody leve... ORPHA:79329
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Intesti... OMIM:243180
Hermansky-Pudlak Syndrome 1
Bruising susceptibility, Ecchymosis, Epistaxis, Inflammation of the large intestine, Gingival ble... OMIM:203300
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Enterocolitis, Reduced natural killer cell activity, V... OMIM:616050
Wolfram Syndrome 2
Neurogenic bladder, Impaired collagen-induced platelet aggregation, Abnormal bleeding, Decreased ... OMIM:604928
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Colitis,... OMIM:619164
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, High palate, Death in infancy, Necrotizing enterocolitis, Abdominal pain, Feeding diffi... OMIM:616809
Klippel-Trénaunay Syndrome
Prolonged bleeding time, Gastrointestinal hemorrhage, Hematuria, Internal hemorrhage ORPHA:90308
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Thrombocytopenia, Bone marrow hypocellularity, Impaired platelet aggregation OMIM:300835
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Death in infancy, Generalized hypotonia, Hypotonia, Hepatomegaly, Splenomegaly, Car... OMIM:608540
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Recurrent bacterial skin infections, Abnormal lymph node morphology, Chronic diarr... ORPHA:911
Essential Thrombocythemia
Abnormality of thrombocytes, Prolonged bleeding time, Abnormal platelet morphology ORPHA:3318
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... ORPHA:730
Benign Schwannoma
Allodynia, Pain ORPHA:252164
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... ORPHA:3261
Hemolytic-uremic syndrome, Bloody diarrhea, Tenesmus, Pneumonia, Thrombocytopenia, Acute colitis,... ORPHA:810
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Generalized hypotonia, M... OMIM:603585
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Bloody diarrhea, Hypoplasia of the thymus, Intestinal obstruction, Psoriasiform dermatitis, Intes... OMIM:243150
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Epistaxis ORPHA:46488
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis, Hematochezia OMIM:613148
Glycogen Storage Disease Ib
Splenomegaly, Neutropenia, Enlarged kidney, Hepatocellular carcinoma, Hypertension, Gout, Inflamm... OMIM:232220
Congenital Disorder Of Glycosylation, Type Iil
Proximal tubulopathy, Cirrhosis, Chronic diarrhea, Death in infancy, Generalized hypotonia, Unila... OMIM:614576
Congenital Factor Vii Deficiency
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged pr... ORPHA:327
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea, Death in infancy OMIM:219095
Hermansky-Pudlak Syndrome 8
Bruising susceptibility, Impaired platelet aggregation, Epistaxis, Excessive bleeding from superf... OMIM:614077
Galactosemia Iii
Aminoaciduria, Vomiting, Jaundice, Generalized hypotonia, Galactosuria, Hypotonia, Hepatomegaly, ... OMIM:230350
Sepsis In Premature Infants
Hypotension, Splenomegaly, Vomiting, Enterocolitis, Diarrhea, Anemia, Functional abnormality of t... ORPHA:90051
Immunodeficiency, Common Variable, 8, With Autoimmunity
Hypothyroidism, Bronchiectasis, Recurrent sinusitis, Generalized lymphadenopathy, Colitis, Chroni... OMIM:614700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Crusting erythematous dermatitis, Eczema, Myositis, Abnormal intestine morphology... ORPHA:37042
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Bloody diarrhea, Ulcerative colitis, Anemia OMIM:619398
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... OMIM:619350
Mixed Connective Tissue Disease
Skin rash, Arthritis, Keratoconjunctivitis sicca, Purpura, Pericarditis, Myositis, Nephropathy, G... ORPHA:809
Familial Hemophagocytic Lymphohistiocytosis
Maculopapular exanthema, Anemia, Infectious encephalitis, Neutropenia, Reduced natural killer cel... ORPHA:540
Factor X Deficiency
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Prolonged prothrombin time, Menorrhagia, P... OMIM:227600
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Decreased circulating antibody level ORPHA:2585
Infantile Sialic Acid Storage Disease
High palate, Nephrotic syndrome, Generalized hypotonia, Congestive heart failure, Hypotonia, Hepa... OMIM:269920
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Autoimmunity, Limitation of joint mobility, Groin pain, Systemic lupus eryt... ORPHA:399180
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Decreased circulating total IgM, Reduced natural killer cell activity, B lympho... OMIM:619281
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Abnormal calcium-phosphate regulating hormone level, Hypotonia, Hepatomegaly, Abno... ORPHA:417
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Reduced natural killer cell activity, Periodontitis, Chronic or... OMIM:608233
Leukocyte Adhesion Deficiency
Hemolytic-uremic syndrome, Acute myeloid leukemia, Perianal abscess, Bronchiectasis, Impaired neu... ORPHA:2968
Autoimmune Hepatitis
Spider hemangioma, Cirrhosis, Fulminant hepatitis, Increased circulating antibody level, Arthriti... ORPHA:2137
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Vomiting, Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Chronic... OMIM:619079
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Hypertension, Gout, Decreased glomer... OMIM:618061
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Anemia, Renal insufficiency, Nausea and vomiting, Abdominal pain, Anorexia, Thrombo... ORPHA:79312
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment OMIM:601455
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Arthritis, Pancytopenia, Hepatosplenomegaly, Cystic acne, Thrombocytosis, Colitis, Acne, Microcyt... OMIM:604416
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Crohn's disease, Chronic diarrhea, Decreased circulating total IgM, Bro... OMIM:618394
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Bronchiectasis, T lymphocytopenia, Eczema, Hepatosplenomegaly, Abnormal intestine morph... ORPHA:391487
Autoerythrocyte Sensitization Syndrome
Vomiting, Diarrhea, Hematuria, Intracranial hemorrhage, Autoimmune thrombocytopenia, Epistaxis, S... ORPHA:324636
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Crohn's disease, Perianal abscess, Hemolytic anemia, Nephrotic syndrome, Eczema, U... OMIM:618935
Immunodeficiency 70
Achalasia, Decreased circulating total IgM, Decreased proportion of CD4-positive helper T cells, ... OMIM:618969
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Hypotonia, Abnormality of the ovary, Hypogonadism ORPHA:1875
Cocaine Intoxication
Hypotension, Bloody diarrhea, Ischemic stroke, Ventricular arrhythmia, Supraventricular arrhythmi... ORPHA:90068
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Bloody diarrhea, Diarrhea, Reticulocytosis, Thrombocytopenia, Acute colitis, Colonic stenosis, Ac... ORPHA:90038
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Bronchiectasis, Ulcerative colitis, Colonic eosinophilia, Eosino... OMIM:617638
Hemochromatosis, Type 2B
Cirrhosis, Hepatic fibrosis, Anemia, Hypogonadism, Secondary amenorrhea, Congestive heart failure... OMIM:613313
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Genital ulcers, Ileal ulcer, Hemolytic anemia, Skin rash, Lymphopenia, Colitis, Thrombocytopenia,... OMIM:616744
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Anemia, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Hyper... ORPHA:97362
Charcot-Marie-Tooth Disease, Type 4C
Tongue atrophy, Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Pro... OMIM:601596
Gray Platelet Syndrome
Abnormality of thrombocytes, Abnormality of the menstrual cycle, Epistaxis, Thrombocytopenia, Spl... ORPHA:721
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Diarrhea, Hepatocellular carcinoma, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hepato... ORPHA:370
Type 1 Diabetes Mellitus
Autoimmunity, Polydipsia, Polyphagia OMIM:222100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Tubulointerstitial nephritis, Hypotension, Anemia, Stage 5 chronic kidney ... OMIM:174000
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Pparg-Related Familial Partial Lipodystrophy
Primary amenorrhea, Splenomegaly, Cirrhosis, Secondary amenorrhea, Maternal diabetes, Congestive ... ORPHA:79083
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent sinusitis, Generalized lymphadenopathy, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... OMIM:615559
Wiskott-Aldrich Syndrome
Eczema, Recurrent sinusitis, Hematemesis, Prolonged bleeding time, Thrombocytopenia, Decreased ci... OMIM:301000
Galactose Epimerase Deficiency
Aminoaciduria, Nausea and vomiting, Jaundice, Hypotonia, Hepatomegaly, Feeding difficulties, Sple... ORPHA:79238
Lynch Syndrome 8
Colon cancer, Adenomatous colonic polyposis, Hereditary nonpolyposis colorectal carcinoma OMIM:613244
Glycogen Storage Disease Ia
Intermittent diarrhea, Enlarged kidney, Hepatocellular carcinoma, Hypertension, Gout, Delayed pub... OMIM:232200
Glycogen Storage Disease Ic
Pulmonary arterial hypertension, Spider hemangioma, Chronic pancreatitis, Hematuria, Hypertension... OMIM:232240
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Colit... ORPHA:2442
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Ambiguous genitalia, Precocious puberty, Premature thelarche, Ambiguous genitalia, female, Decrea... ORPHA:90795
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Vesicoureteral reflux, Hepatic fibrosis, Anemia, Chronic diarrhea, Abdominal pain,... OMIM:615895
Leukopenia, Hepatic failure, Hemolytic anemia, Nausea and vomiting, Jaundice, Congestive heart fa... ORPHA:108
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea, Abdominal distention OMIM:616868
Diarrhea, Fasciitis, Pericarditis, Gastritis, Colitis, Hematemesis, Unusual gastrointestinal infe... ORPHA:73263
Primary Lipodystrophy
Splenomegaly, Cirrhosis, Type II diabetes mellitus, Congestive heart failure, Angina pectoris, Hy... ORPHA:90970
Primary Sclerosing Cholangitis
Spider hemangioma, Hepatocellular carcinoma, Cholangiocarcinoma, Chronic hepatic failure, Hepatos... ORPHA:171
Familial Partial Lipodystrophy, Dunnigan Type
Glomerulopathy, Splenomegaly, Secondary amenorrhea, Congestive heart failure, Hepatic steatosis, ... ORPHA:2348
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hepatocellular adenoma, Myoglobi... ORPHA:264580
Hemorrhagic Fever-Renal Syndrome
Hypotension, Diarrhea, Acute tubulointerstitial nephritis, Shock, Glomerulonephritis, Palpitation... ORPHA:340
Hemochromatosis, Type 1
Cirrhosis, Telangiectasia, Impotence, Abdominal pain, Azoospermia, Congestive heart failure, Hepa... OMIM:235200
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism, Nephrotic syndrome, Hepatosplenomegaly, Eosinophilic liver infiltration, Colonic ... OMIM:618999
Idiopathic Hypereosinophilic Syndrome
Feeding difficulties in infancy, Supraventricular arrhythmia, Eczema, Generalized lymphadenopathy... ORPHA:3260
Whipple Disease
Hypotension, Respiratory insufficiency, Chest pain, Arthritis, Abdominal pain, Uveitis, Arthralgi... ORPHA:3452
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Cardiomegaly, Colitis ORPHA:88643
Infection-Related Hemolytic Uremic Syndrome
Nephrotic range proteinuria, Septic arthritis, Bloody diarrhea, Diarrhea, Oliguria, Thrombocytope... ORPHA:544482
Epidermolysis Bullosa Acquisita
Diabetes mellitus, Abdominal pain, Inflammation of the large intestine ORPHA:46487
Fowler Urethral Sphincter Dysfunction Syndrome
Urinary incontinence, Urinary retention, Dysuria, Abnormality of the ovary, Polycystic ovaries, M... ORPHA:2795
Immunodeficiency, Common Variable, 11
Crohn's disease, Increased circulating IgE level, Inflammation of the large intestine, Decreased ... OMIM:615767
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Nausea and... ORPHA:543
Bare Lymphocyte Syndrome, Type Ii
Panhypogammaglobulinemia, Neutropenia, Villous atrophy, Recurrent urinary tract infections, Malab... OMIM:209920
Muckle-Wells Syndrome
Conjunctivitis, Anemia, Recurrent aphthous stomatitis, Nephrotic syndrome, Skin rash, Arthritis, ... ORPHA:575
Autoimmune Lymphoproliferative Syndrome, Type Iia
Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegaly, Elevated proportion of CD4-negative... OMIM:603909
Familial Mediterranean Fever
Diarrhea, Pericarditis, Intestinal obstruction, Splenomegaly, Skin rash, Arthritis, Abdominal pai... ORPHA:342
Cryoglobulinemic Vasculitis
Glomerulopathy, Abnormality of the liver, Arthritis, Abdominal pain, Keratoconjunctivitis sicca, ... ORPHA:91138
Legionnaires Disease
Hypotension, Endocarditis, Splenomegaly, Infectious encephalitis, Diarrhea, Nausea and vomiting, ... ORPHA:549
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation OMIM:618372
Ovarian Fibrothecoma
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... ORPHA:314478
Cholestasis-Lymphedema Syndrome
Cirrhosis, Nausea and vomiting, Abdominal pain, Jaundice, Acholic stools, Biliary tract abnormali... ORPHA:1414
Immunodeficiency 58
Recurrent aphthous stomatitis, Chronic diarrhea, Decreased T cell activation, Bronchiectasis, Dec... OMIM:618131
Macs Syndrome
Recurrent aphthous stomatitis, Bronchiectasis, Bruising susceptibility, Urethral stenosis, Prolon... OMIM:613075
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Tubulointerstitial nephritis, Pulmonary hemorrhage, Small vessel vas... ORPHA:93126
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Anemia, Neutropenia, Skin rash, Jaundice, Lymphadenopathy, Hypotonia, Hemophagocy... OMIM:603552
Neuraminidase Deficiency
Ascites, Urinary excretion of sialylated oligosaccharides, Generalized hypotonia, Increased urina... OMIM:256550
Neonatal Lupus Erythematosus
Heart block, Hepatomegaly, Aplastic anemia, Thrombocytopenia, Splenomegaly, Malar rash, Abnormali... ORPHA:398124
Rheumatoid Arthritis
Rheumatoid arthritis, Rheumatoid factor positive, Arthralgia, Anti-citrullinated protein antibody... OMIM:180300
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious encephalitis,... OMIM:616098
Cyclic Neutropenia
Enterocolitis, Perianal abscess, Periodontitis, Peritonitis, Abdominal pain, Decreased eosinophil... ORPHA:2686
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Hepatocellular carcinoma, Cholangiocarcinoma, Chronic hepatic failure, Hepatomega... ORPHA:465508
Syndromic Diarrhea
Hypothyroidism, Bloody diarrhea, Hypoplasia of the thymus, Hepatoblastoma, Gastritis, Hepatomegal... ORPHA:84064
Diarrhea, Cardiac arrest, Skin rash, Abdominal pain, Epistaxis, Constipation, Gastrointestinal he... ORPHA:99745
Alpha-Heavy Chain Disease
Anemia, Premature ovarian insufficiency, Malabsorption, Abdominal pain, Lymphadenopathy, Hepatome... ORPHA:100025
Pediatric-Onset Graves Disease
Hyperactivity, Anti-thyroid peroxidase antibody positivity, Sinus tachycardia, Neutropenia in pre... ORPHA:525731
Secondary Short Bowel Syndrome
Central hypothyroidism, Vomiting, Enterocolitis, Diarrhea, Villous atrophy, Small intestinal dysm... ORPHA:95427
Mohr-Tranebjaerg Syndrome
Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing impairment, Sensor... ORPHA:52368
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Optic disc pallor, High palate OMIM:617523
Acrocraniofacial Dysostosis
Cleft palate, Conductive hearing impairment, Sensorineural hearing impairment, Abnormal auditory ... OMIM:201050
Pseudohypoparathyroidism Type 1A
Conjunctivitis, Low urinary cyclic AMP response to PTH administration, Decreased response to grow... ORPHA:79443
Hypocomplementemic Urticarial Vasculitis
Conjunctivitis, Glomerulopathy, Diarrhea, Small vessel vasculitis, Nausea and vomiting, Skin rash... ORPHA:36412
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal tubular atrophy, Nephritis, Gout, Nephropathy, Decreased glomerular filtration rate, Renal ... OMIM:162000
Mu-Heavy Chain Disease
Anemia, Increased circulating antibody level, Abnormal B cell count, Nephropathy, Lymphadenopathy... ORPHA:100024
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Epistaxis, Abnormal bleeding, Prolonged prothrombin time OMIM:610842
Fetal Gaucher Disease
High palate, Death in infancy, Intracranial hemorrhage, Pancytopenia, Abnormality of the spleen, ... ORPHA:85212
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Generalized aminoaciduria, Elevated ci... OMIM:613388
Nephronophthisis-Like Nephropathy 2
Polydipsia, Cough, Bronchiectasis OMIM:619468
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Müllerian Aplasia And Hyperandrogenism
Increased serum testosterone level, Abnormality of the ovary, Renal agenesis, Hypoplasia of the u... ORPHA:247768
Beta-Thalassemia Intermedia
Hypothyroidism, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyr... ORPHA:231222
Coach Syndrome 1
Spasticity, Multiple small medullary renal cysts, Hepatic fibrosis, Cirrhosis, Stage 5 chronic ki... OMIM:216360
Enterocolitis, Hematochezia, Ulcerative colitis, Abdominal distention OMIM:226150
Adrenocortical Carcinoma
Increased serum estradiol, Hyperaldosteronism, Increased urinary cortisol level, Increased circul... ORPHA:1501
Inflammatory Bowel Disease (Crohn Disease) 1
Recurrent aphthous stomatitis, Crohn's disease, Diarrhea, Abdominal pain, Ulcerative colitis, Inf... OMIM:266600
Orthostatic Hypotension 2
Orthostatic hypotension, Anemia, Decreased glomerular filtration rate OMIM:618182
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Bronchiectasis, T lymphocytopenia, Bowel irritability, Gastritis, Colitis, Recurrent sk... OMIM:619381
Hereditary Renal Hypouricemia
Vomiting, Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physio... ORPHA:94088
Scrub Typhus
Hypotension, Infectious encephalitis, Nausea and vomiting, Skin rash, Abdominal pain, Lymphadenop... ORPHA:83317
Pseudomyxoma Peritonei
Nausea and vomiting, Abdominal pain, Abnormality of the peritoneum, Inflammation of the large int... ORPHA:26790
Schnitzler Syndrome
Anemia, Arthritis, Skin rash, Lymphadenopathy, Hepatomegaly, Increased circulating IgM level, Leu... ORPHA:37748
Aicardi-Goutieres Syndrome 7
Hypothyroidism, Bloody diarrhea, Diarrhea, Generalized lymphadenopathy, Hepatic steatosis, Hypert... OMIM:615846
Lcat Deficiency
Renal insufficiency, Hemolytic anemia, Acute kidney injury, Stage 5 chronic kidney disease, Decre... ORPHA:650
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Duodenal ulcer,... ORPHA:263665
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Anemia, Osteomyelitis, Poor appetite, Arthritis, Skin rash, Inflammation of the large intestine, ... ORPHA:324964
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Perianal abscess, Bronchiectasis, Decreased circulating antibo... OMIM:618108
Hirschsprung Disease, Susceptibility To, 1
Vomiting, Enterocolitis, Aganglionic megacolon, Abdominal distention, Constipation, Abnormality o... OMIM:142623
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... ORPHA:2260
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hypertrophic cardiomyopathy, Bone marrow hypocellularity, Hepatomegaly, Th... OMIM:617303
Systemic-Onset Juvenile Idiopathic Arthritis
Juvenile rheumatoid arthritis, Skin rash, Abdominal pain, Autoimmunity, Arthralgia, Pericarditis,... ORPHA:85414
Sickle Cell Disease
Splenomegaly, Hemolytic anemia, Priapism, Target cells, Abdominal pain, Jaundice, Hematuria, Hype... OMIM:603903
Immunodeficiency 40
Rectal fistula, Intermittent diarrhea, Chronic oral candidiasis, T lymphocytopenia, Interstitial ... OMIM:616433
Trichohepatoenteric Syndrome 2
Bloody diarrhea, Cirrhosis, Chronic diarrhea, Diarrhea, Villous atrophy, Colitis, Hepatomegaly, C... OMIM:614602
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Neonatal death, Peripor... OMIM:263200
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time, Esophagitis ORPHA:1901
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Hypercholesterolemia, Hypertriglyceridemia, Vomiting, Hepatic fibrosis, R... ORPHA:79240
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Abdominal pain, Hematochezia, Diarrhea OMIM:191390
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Nephroblastoma, Acute myeloid leukemia, Hepatic failure, Anemia, Reduced natural killer cell coun... ORPHA:158057
Congenital Factor Xiii Deficiency
Hepatic failure, Myeloid leukemia, Cerebral hemorrhage, Epistaxis, Inflammation of the large inte... ORPHA:331
Acquired Purpura Fulminans
Macular purpura, Skin rash, Intracranial hemorrhage, Internal hemorrhage, Prolonged prothrombin t... ORPHA:49566
Amoebiasis Due To Entamoeba Histolytica
Bloody diarrhea, Anemia, Diarrhea, Liver abscess, Abdominal pain, Congestive heart failure, Protr... ORPHA:67
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... ORPHA:95699
Lysinuric Protein Intolerance
Hyperlysinuria, Diarrhea, Ornithinuria, Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Hyp... ORPHA:470
Autoimmune Hemolytic Anemia
Hemolytic anemia, Abdominal pain, Congestive heart failure, Abnormal urinary color, Arrhythmia, A... ORPHA:98375
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... ORPHA:1215
American Trypanosomiasis
Achalasia, Diarrhea, Skin rash, Abdominal pain, Aganglionic megacolon, Congestive heart failure, ... ORPHA:3386
Lymphoproliferative Syndrome, X-Linked, 1
Hepatic failure, Infectious encephalitis, Neutropenia, Reduced natural killer cell activity, Decr... OMIM:308240
Lysosomal Acid Lipase Deficiency
Diarrhea, Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, H... OMIM:278000
Crimean-Congo Hemorrhagic Fever
Hypotension, Diarrhea, Hemoperitoneum, Adrenal insufficiency, Abnormal left ventricular function,... ORPHA:99827
Splenomegaly, Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Hypogonadotropic hypo... ORPHA:848
Chédiak-Higashi Syndrome
Spastic paraplegia, Hepatosplenomegaly, Decreased liver function, Thrombocytopenia, Abnormal leuk... ORPHA:167
Overlap Myositis
Pulmonary arterial hypertension, Subluxation of the small joints of the hand, Rheumatoid arthriti... ORPHA:206572
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperaldosteronism, Generalized hypotonia, Renal salt wasting, Hypernatriuria, Hyperchloriduria, ... OMIM:613090
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Extramedullary hematop... OMIM:615285
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Bloody diarrhea, Skin rash, Lymphocytosis, Vasculitis in the skin, Cervical lymphadenopathy, Infl... OMIM:617718
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Internal hemorrhag... ORPHA:335
Brain-Lung-Thyroid Syndrome
Pulmonary arterial hypertension, Hyperactivity, Abnormal drinking behavior, Asthma, Respiratory d... ORPHA:209905
Immunodeficiency 27A
Anemia, Diarrhea, Enlarged mesenteric lymph node, Hepatosplenomegaly, Anorexia, Lymphadenopathy, ... OMIM:209950
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
Familial Mediterranean Fever
Episodic abdominal pain, Crohn's disease, Vomiting, Diarrhea, Nephrotic syndrome, Stage 5 chronic... OMIM:249100
Purine Nucleoside Phosphorylase Deficiency
Spastic diplegia, Recurrent urinary tract infections, Neutropenia in presence of anti-neutropil a... OMIM:613179
Noonan Syndrome
High palate, Feeding difficulties in infancy, Abnormal platelet function, Abnormality of the lymp... ORPHA:648
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Perianal abscess, Folliculitis, Pancolitis, Enterocutaneous fistula, Rectovaginal ... OMIM:612567
Felty Syndrome
Splenomegaly, Rhinitis, Anemia, Recurrent urinary tract infections, Arthritis, Synovitis, Pericar... ORPHA:47612
Neoplasm of the gastrointestinal tract, Decreased circulating antibody level, Rheumatoid arthriti... ORPHA:99867
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut... OMIM:619375
Immunodeficiency, Common Variable, 1
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, Diarrhea, B lymphocytopenia, Neu... OMIM:607594
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Nephrotic syndrome, Generalized hypotonia, Decreased glomerular fil... ORPHA:488627
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Splenomegaly, Secondary amenorrhea, Ventricular arrhythmia, Supraventricular arrhythmia, Congesti... ORPHA:280365
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Cerebral hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged... OMIM:277450
Lipodystrophy, Congenital Generalized, Type 3
Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Hyper... OMIM:612526
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Urethral stricture, Recurrent pneumonia, Colitis, Chronic diarrhea, Hyperkeratosis OMIM:301220
Gaucher Disease Type 1
Pulmonary arterial hypertension, Leukopenia, Cirrhosis, Anemia, Increased circulating antibody le... ORPHA:77259
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Elevated proportion of CD4-negative, CD8-negative, alpha-b... OMIM:601859
Hypocalcemia, Autosomal Dominant 1
Increased circulating renin level, Decreased glomerular filtration rate, Nephrocalcinosis, Decrea... OMIM:601198
Prolidase Deficiency
Anemia, High palate, Prolonged neonatal jaundice, Crusting erythematous dermatitis, Increased cir... OMIM:170100
Congenital Tricuspid Stenosis
Pulmonary arterial hypertension, Hypotension, Bacterial endocarditis, Heart murmur, Rheumatoid ar... ORPHA:95459
Sapho Syndrome
Osteomyelitis, Chronic diarrhea, Enthesitis, Skin rash, Arthritis, Synovitis, Abdominal pain, Mal... ORPHA:793
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Abnormality of thrombocytes, Anemia, Extramedullary hematopoiesis... OMIM:612840
Familial Hyperaldosteronism Type I
Epistaxis, Intracranial hemorrhage, Hypertension, Polydipsia ORPHA:403
Ochoa Syndrome
Bowel incontinence, Urinary incontinence, Hypertension, Polydipsia ORPHA:2704
Lymphoid Interstitial Pneumonia
Bronchiectasis, Rheumatoid arthritis, Skin rash, Raynaud phenomenon, Hypoxemia, Keratoconjunctivi... ORPHA:79128
Majeed Syndrome
Glomerulopathy, Osteomyelitis, Inflammatory abnormality of the skin, Malabsorption, Synovitis, Hy... ORPHA:77297
Late-Infantile/Juvenile Krabbe Disease
Neuromuscular dysphagia, Prolonged brainstem auditory evoked potentials, Decreased nerve conducti... ORPHA:206443
Immunodeficiency 87 And Autoimmunity
Necrotizing enterocolitis, Decreased proportion of CD4-positive T cells, Hepatic steatosis, Hepat... OMIM:619573
Spondyloarthropathy, Susceptibility To, 1
Sacroiliac arthritis, Oligoarthritis, Hip osteoarthritis, Enthesitis, Aortic regurgitation, Infla... OMIM:106300
Lipodystrophy, Congenital Generalized, Type 1
Decreased fertility in females, Hyperinsulinemia, Cirrhosis, Insulin-resistant diabetes mellitus ... OMIM:608594
Increased urine harderoporphyrin level, Vomiting, Hemolytic anemia, Red urine, Reticulocytosis, I... OMIM:618892
Reactive Arthritis
Conjunctivitis, Recurrent aphthous stomatitis, Osteomyelitis, Diarrhea, Recurrent urinary tract i... ORPHA:29207
Hypotension, Bloody diarrhea, Diarrhea, Inflammatory abnormality of the eye, Tachycardia, Hepatom... ORPHA:707
Intussusception OMIM:147710
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia, Abnormal urinary color, Autoimmune hemolytic anemia, Splen... ORPHA:90037
Turner Syndrome Due To Structural X Chromosome Anomalies
Gonadoblastoma, Biliary cirrhosis, Hepatic steatosis, Increased circulating gonadotropin level, C... ORPHA:99413
Turner Syndrome
Gonadoblastoma, Biliary cirrhosis, Hepatic steatosis, Increased circulating gonadotropin level, C... ORPHA:881
Mosaic Monosomy X
Gonadoblastoma, Biliary cirrhosis, Hepatic steatosis, Increased circulating gonadotropin level, C... ORPHA:99228
Monosomy X
Gonadoblastoma, Biliary cirrhosis, Hepatic steatosis, Increased circulating gonadotropin level, C... ORPHA:99226
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Ascites, Jaun... ORPHA:64743
Gist-Plus Syndrome
Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis OMIM:175510
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility, Decreased fertility in females, Hyperinsulinemia, Cirrhosis, Insulin-resista... OMIM:269700
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... ORPHA:206484
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Au... OMIM:618495
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Eczema, Recurrent sinusitis, Hepatosplenomegaly, Bone marrow hypocellularity, Panniculitis, Hepat... OMIM:615688
Congenital Tufting Enteropathy
Elevated fecal osmolality, Villous atrophy, Abnormal large intestinal mucosa morphology, Malabsor... ORPHA:92050
Gaisböck Syndrome
Peptic ulcer, Hypertriglyceridemia, Increased mean corpuscular hemoglobin concentration, Increase... ORPHA:90041
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... ORPHA:75564
Meconium Ileus
Meconium ileus, Microcolon OMIM:614665
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Hepatomeg... OMIM:208540
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Subcutaneous hemorrhage, Hematuria, Intracranial hemorrhage, Br... ORPHA:99147
Behçet Disease
Glomerulopathy, Keratoconjunctivitis sicca, Pericarditis, Myositis, Retrobulbar optic neuritis, S... ORPHA:117
Sweet Syndrome
Oligoarthritis, Acute myeloid leukemia, Anemia, Chronic lymphatic leukemia, Small vessel vasculit... ORPHA:3243
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c... OMIM:616100
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Impaired renal concentrating ability, Hyperaldosteronism, Generalized hypotonia, Renal salt wasti... OMIM:602522
Hereditary Central Diabetes Insipidus
Polydipsia ORPHA:30925
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascul... OMIM:617388
Omenn Syndrome
Hypothyroidism, Anemia, Chronic diarrhea, Nephrotic syndrome, Thyroiditis, Lymphadenopathy, Eosin... ORPHA:39041
Liver Failure, Infantile, Transient
3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Prolonged prothrombin time... OMIM:613070
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment OMIM:619260
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Hypertension, Epistaxis, Prolonged QT interval, Polydipsia ORPHA:251274
Relapsing Fever
Acute kidney injury, Hematuria, Abnormal bleeding, Epistaxis, Prolonged prothrombin time, Abnorma... ORPHA:91547
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Bronchiectasis, Iridocyclitis, Increased circulating antibody le... OMIM:181000
Radiation Proctitis
Abnormal gastrointestinal vascular morphology, Abnormal rectum morphology, Rectal abscess, Intest... ORPHA:70475
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Hep... ORPHA:1304
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Decreased circulating total IgM, Interstitial pneumonitis, Ulcerative colitis, Dec... OMIM:614878
Kindler Epidermolysis Bullosa
Conjunctivitis, Anemia, Esophageal stricture, Dysphagia, Abnormality of the anus, Periodontitis, ... ORPHA:2908
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Epidural hemorrhage, Enlarged kidney, Abnormal spleen morphology, Abnor... ORPHA:464329
Tyrosinemia, Type I
Hepatocellular carcinoma, Hypertrophic cardiomyopathy, Hepatomegaly, Splenomegaly, Enlarged kidne... OMIM:276700
Q Fever
Hepatosplenomegaly, Pericarditis, Abnormal left ventricular function, Hepatomegaly, Thrombocytope... ORPHA:781
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Anemia, Feeding difficulties in infancy, Hyperphosphaturia, Generalized hypotonia,... OMIM:239200
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Cirrhosis, Diarrhea, Hepatitis, Jaundice, Acholic stools, Steatorrhea, Hepatic b... OMIM:613812
Scheie Syndrome
Rhinitis, Aortic regurgitation, Spastic paraparesis, Mucopolysacchariduria, Hepatomegaly, Splenom... ORPHA:93474
Bardet-Biedl Syndrome 1
Hepatic fibrosis, High palate, Hypogonadism, Decreased testicular size, Abnormality of the kidney... OMIM:209900
Hardikar Syndrome
Hypoplasia of the bladder, Cleft soft palate, Portal inflammation, Hepatosplenomegaly, Celiac dis... OMIM:301068
Distal Renal Tubular Acidosis
Aminoaciduria, Proximal tubulopathy, Vomiting, Hypocitraturia, Diarrhea, Hypermagnesiuria, Poor a... ORPHA:18
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Zollinger-Ellison Syndrome
Peptic ulcer, Pituitary corticotropic cell adenoma, Diarrhea, Pituitary null cell adenoma, Intest... ORPHA:913
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Autoimmune hemolytic ... ORPHA:100026
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Gastroesophageal reflux, Splenomegaly, Congestive heart failure,... ORPHA:2414
Mucopolysaccharidosis, Type Ii
Splenomegaly, Diarrhea, Dermatan sulfate excretion in urine, Congestive heart failure, Recurrent ... OMIM:309900
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Scleritis, Mild proteinuria, Renal interstitial edema, Renal neutrophilic tubuliti... ORPHA:91500
Polycythemia Vera
Increased red blood cell mass, Cerebral ischemia, Cerebral hemorrhage, Increased hematocrit, Thro... OMIM:263300
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... ORPHA:70591
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Perianal abscess, Diarrhea, Skin rash, Arthritis, Chronic cons... OMIM:301074
Erdheim-Chester Disease
Osteomyelitis, Increased bone mineral density, Skin rash, Abdominal pain, Congestive heart failur... ORPHA:35687
Oligoarticular Juvenile Idiopathic Arthritis
Oligoarthritis, Rheumatoid arthritis, Autoimmunity, Uveitis, Joint hypermobility, Abnormality of ... ORPHA:85410
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Renal cyst, Giant cell hepatitis, Prolonged prothrombin time, Dark urine ORPHA:79303
Primary Triglyceride Deposit Cardiomyovasculopathy
Splenomegaly, Inflammatory abnormality of the skin, Angina pectoris, Diabetes mellitus, Low-outpu... ORPHA:565612
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Chronic lymphatic leukemia, Jaundice, Congestive heart failure, Autoimmune hemolyti... ORPHA:90033
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, B lymphocytopenia, Decreased circulating antibody level, Generalized hypotonia, Si... OMIM:616084
Pearson Syndrome
Hypothyroidism, Adrenal insufficiency, Reticulocytosis, Lacticaciduria, Hepatic steatosis, Hypopa... ORPHA:699
Lysinuric Protein Intolerance
Aminoaciduria, Pulmonary hemorrhage, Vomiting, Splenomegaly, Diarrhea, Leukopenia, Anemia, Stage ... OMIM:222700
Hurler Syndrome
Rhinitis, Death in infancy, Hypertension, Angina pectoris, Macroglossia, Spastic paraparesis, Hyp... ORPHA:93473
Autosomal Recessive Polycystic Kidney Disease
Fat malabsorption, Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Reduced renal corticom... ORPHA:731
Gitelman Syndrome
Hypotension, Abdominal pain, Arthralgia, Prolonged QT interval, Ventricular tachycardia, Palpitat... OMIM:263800
Dominant Beta-Thalassemia
Hypothyroidism, Diarrhea, Adrenal insufficiency, Extramedullary hematopoiesis, Hepatocellular car... ORPHA:231226
Triosephosphate Isomerase Deficiency
Spasticity, Splenomegaly, Hemolytic anemia, Death in infancy, Normocytic anemia, Jaundice, Genera... OMIM:615512
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Decreased glomerular filtration rate OMIM:242530
Multiple Endocrine Neoplasia Type 4
Peptic ulcer, Pituitary corticotropic cell adenoma, Parathyroid adenoma, Diarrhea, Hyperinsulinem... ORPHA:276152
Budd-Chiari Syndrome
Cirrhosis, Malabsorption, Ascites, Peritonitis, Abdominal pain, Jaundice, Cholecystitis, Intestin... ORPHA:131
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Splenomegaly, Pyloric stenosis, Hepatic steatosis, Recurrent pneumonia, Prolong... OMIM:613327
Rickets, Portal hypertension, Polydipsia, Fatigue ORPHA:213
Ovarian Fibroma
Gonadal calcification, Abdominal pain, Abnormality of the ovary, Abdominal distention, Ascites, P... ORPHA:314473
Oculoskeletodental Syndrome
Hypothyroidism, Renal agenesis, Macroglossia, Lacunar stroke, Mucopolysacchariduria, Hepatomegaly... OMIM:618440
Gm1-Gangliosidosis, Type I
Death in infancy, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, ... OMIM:230500
Myasthenia Gravis
Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis, Hepatitis, Anti-acetylcholin... ORPHA:589
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Hypertension, Intracranial hemorrhage, Epistaxis, Second degree ... ORPHA:369929
Adams-Oliver Syndrome 6
Hepatic fibrosis, Esophageal varix, Renal hypoplasia, Portal hypertension, Splenomegaly, Tricuspi... OMIM:616589
Waldenström Macroglobulinemia
Retinal hemorrhage, Diarrhea, Leukemia, Malabsorption, Normocytic anemia, Congestive heart failur... ORPHA:33226
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hypoplasia of the thymus, Perianal abscess, Hepatosplenomegaly, Panniculitis, Hepatomegaly, Cleft... OMIM:612541
Nephronophthisis 19
Hepatic fibrosis, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Malformation of th... OMIM:616217
Sclerosing Cholangitis, Neonatal
Vesicoureteral reflux, Hepatic failure, Biliary cirrhosis, Cirrhosis, Sclerosing cholangitis, Jau... OMIM:617394
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Decreased circulating antibody level, Esophageal stenosis, Bone marrow hypocellularit... OMIM:615190
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Anemia, Infectious encephalitis, Reduced natural killer cell activity, Skin rash, Jau... OMIM:603553
Hb Bart'S Hydrops Fetalis
Anemia, Congestive heart failure, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Splenomegaly, High palate, Death in infancy, Thyroid lymphangiectasia, Ascites, ... OMIM:235255
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic nervous system physio... OMIM:609136
Wilson Disease
Aminoaciduria, Limb dystonia, Hyperphosphaturia, Hepatocellular carcinoma, Hepatic steatosis, Hyp... OMIM:277900
Noonan Syndrome 9
Hydroureter, Prolonged prothrombin time OMIM:616559
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Epistaxis, Thrombocytopenia,... OMIM:619463
Iga Pemphigus
Monoclonal elevation of circulating IgA, Neutrophilic infiltration of the skin, Cutaneous abscess... ORPHA:555905
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Bloody diarrhea, Spasticity, Decreased T cell activation, Perianal abscess, Eosinophilic infiltra... OMIM:618213
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, High palate, Hearing impairment OMIM:193700
African Trypanosomiasis
Impotence, Diarrhea, Abnormality of circulating cortisol level, Iritis, Hepatosplenomegaly, Peric... ORPHA:3385
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, Esophageal stricture, B lymphocytopenia, Pancolitis, Pancytope... OMIM:620133
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Lymphopenia, Inflammation of the large intestine, Dystonia, Absent uvula, Dilatat... OMIM:619708
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Vomiting, Periportal fibrosis, Hepatocellular necrosis, Feeding difficulties in ... OMIM:251880
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal fallopian tube morphology, Hepatic failure, Splenomegaly, High palate, Pulmonary lymphan... ORPHA:1655
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Antinuclear a... ORPHA:331235
Trisomy 10P
Gastroesophageal reflux, Macrotia, High palate, Low voltage EEG, EEG with burst suppression, Abno... ORPHA:171929
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia OMIM:615986
Erythrocytosis, Familial, 1
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia... OMIM:133100
Pyoderma Gangrenosum
Myeloid leukemia, Rheumatoid arthritis, Increased circulating antibody level, Myositis, Inflammat... ORPHA:48104
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Peptic ulcer, Acute myeloid leukemia, Diarrhea, Chronic myelomonocytic leukemia, Eos... ORPHA:98849
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocyt... OMIM:308230
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Nephrogenic diabete... ORPHA:3130
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diarrhea, Absent specific antibody response, Eosinophilia, Chronic diarrhea, Hepatomegaly, Pneumo... OMIM:102700
Igg4-Related Retroperitoneal Fibrosis
Anti-thyroid peroxidase antibody positivity, Rheumatoid arthritis, Large vessel vasculitis, Low b... ORPHA:49041
Hyper-Igd Syndrome
Lymphadenitis, Vomiting, Elevated urine mevalonic acid level, Chronic oral candidiasis, Renal ang... OMIM:260920
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time OMIM:616483
Primary Hyperoxaluria Type 1
Anemia, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcin... ORPHA:93598
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Conjunctivitis, Vomiting, Diarrhea, Skin rash, Fasciitis, Arthritis, Abdominal pain, Uveitis, Ery... ORPHA:32960
Central Diabetes Insipidus
Polydipsia ORPHA:178029
Smith-Lemli-Opitz Syndrome
Ambiguous genitalia, Precocious puberty, Bifid uvula, Eczema, Hepatic steatosis, Hypertrophic car... OMIM:270400
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Asthma, S... ORPHA:183675
Toxic Epidermal Necrolysis
Sudden cardiac death, Conjunctivitis, Abdominal pain, Respiratory distress, Restrictive ventilato... ORPHA:537
Primary Unilateral Adrenal Hyperplasia
Epistaxis, Palpitations, Hypertension, Polydipsia ORPHA:231580
Infantile Krabbe Disease
Gastroesophageal reflux, Optic atrophy, Decreased nerve conduction velocity, Prolonged brainstem ... ORPHA:206436
Beta-Thalassemia Major
Hypothyroidism, Diarrhea, Adrenal insufficiency, Hepatocellular carcinoma, Hepatosplenomegaly, Hy... ORPHA:231214
Adult-Onset Autosomal Dominant Leukodystrophy
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Abnormal audito... ORPHA:99027
Biotinidase Deficiency
Conjunctivitis, Vomiting, Diarrhea, Skin rash, Feeding difficulties in infancy, Organic aciduria,... OMIM:253260
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Tongue atrophy, Absent brainstem auditory responses, Optic nerv... ORPHA:101085
Immunodeficiency 47
Hepatic steatosis, Hepatomegaly, Chronic diarrhea, Hypercholesterolemia, Thrombocytopenia, Spleno... OMIM:300972
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Gastroesophageal reflux, Spasticity, High palate, Hypertension, Hypotonia, Renal a... OMIM:617913
Caroli Disease
Biliary cirrhosis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Periportal f... ORPHA:53035
Gitelman Syndrome
Palpitations, Chondrocalcinosis, Polydipsia, Abdominal pain, Low-to-normal blood pressure, Respir... ORPHA:358
Gaucher Disease, Type I
Pulmonary arterial hypertension, Anemia, Hypersplenism, Hypertension, Pancytopenia, Epistaxis, Mi... OMIM:230800
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Prolonged prothrombin time, Hematochezia OMIM:214950
Cystinosis, Nephropathic
Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria, Dysphagia, Hepatomegaly, Neph... OMIM:219800
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Pulmonary arterial hypertension, Splenomegaly, Decreased response to growt... OMIM:602782
Polycythemia Vera
Pulmonary embolism, Abdominal pain, Intermittent claudication, Angina pectoris, Hypertension, Epi... ORPHA:729
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphop... OMIM:602450
Isolated Biliary Atresia
Atretic gallbladder, Hypothyroidism, Cirrhosis, Periportal fibrosis, Dark yellow urine, Fat malab... ORPHA:30391
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis, Hypertriglyceridemia, Splenomegaly OMIM:615947
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Spasticity, Hypogonadism, Microcolon, Abdominal pain, Aganglionic megacolon, Hypotonia, Constipat... ORPHA:163746
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Glycogen Storage Disease Ii
Urinary incontinence, Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Ma... OMIM:232300
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Elevated circulating thyroid-stimulati... OMIM:610199
Dyskeratosis Congenita
Abnormal testis morphology, Neoplasm of the pancreas, Bone marrow hypocellularity, Hepatomegaly, ... ORPHA:1775
Frontometaphyseal Dysplasia 2
Gastroesophageal reflux, High palate, Neurogenic bladder, Feeding difficulties in infancy, Pylori... OMIM:617137
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Splenomegaly, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated... OMIM:613673
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Hypotension, Diarrhea, Nausea and vomiting, Mastocytosis, Arrhythmia, Anorexia, Gastrointestinal ... ORPHA:98292
Proteasome-Associated Autoinflammatory Syndrome 1
Chronic constipation, Recurrent sinusitis, Parotitis, Panniculitis, Hepatomegaly, Thrombocytopeni... OMIM:256040
Tetragametic Chimerism
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Gonad... ORPHA:199310
Blau Syndrome
Large vessel vasculitis, Pericarditis, Retrobulbar optic neuritis, Abnormal inflammatory response... ORPHA:90340
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Nephrotic syndrome, Steatorrhea, Renal cyst, Pericarditis, Decreased circul... OMIM:212065
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid factor positive, Inflammatory abnormality of the skin, Rheumatoid arthritis ORPHA:79099
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... ORPHA:75565
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Restrictive cardiomyopathy, Sp... ORPHA:822
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... ORPHA:2975
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Common Variable Immunodeficiency
Splenomegaly, Abnormality of the liver, Hemolytic anemia, Bronchiectasis, Decreased circulating a... ORPHA:1572
Abnormal fallopian tube morphology, Duodenal ulcer, Periodontitis, Abnormality of the ovary, Cerv... ORPHA:722
Hellp Syndrome
Cerebral hemorrhage, Acute kidney injury, Hemoglobinuria, Internal hemorrhage, Prolonged prothrom... ORPHA:244242
Hyperparathyroidism-Jaw Tumor Syndrome
Episodic abdominal pain, Mandibular pain, Pancreatitis, Fatigue, Dysphagia, Chondrocalcinosis, Sh... ORPHA:99880
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Thrombocytopenia, Dicarboxylic aciduria, Prolonged prothrombin time ORPHA:99901
Glycogen Storage Disease Xii