Not currently registered for phenotyping at IMPC

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

Gene Summary

transforming growth factor, beta 1
Tgfb-1,  TGF-beta1,  TGFbeta1,  Tgfb,  TGF-beta 1

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tgfb1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Tgfb1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Aneurysm, Intracranial Berry, 1
Dilatation of the cerebral artery, Intracranial hemorrhage OMIM:105800
Aneurysm, Intracranial Berry, 2
Cerebral berry aneurysm, Subarachnoid hemorrhage OMIM:608542
Cerebral Cavernous Malformations 4
Cerebral cavernous malformation OMIM:619538
Stroke, Ischemic
Stroke OMIM:601367
Moyamoya Disease 2
Moyamoya phenomenon, Transient ischemic attack OMIM:607151
Internal Carotid Absence
Cerebral ischemia, Dilatation of the cerebral artery, Subarachnoid hemorrhage ORPHA:981
Hypouricemia, Renal, 1
Acute kidney injury, Hypouricemia, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... OMIM:220150
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm OMIM:618734
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Gastritis, Bronchiectasis, Inflammation of the large intestine, Recurrent resp... OMIM:618108
Hyperaldosteronism, Familial, Type Iii
Hypokalemia, Hyperaldosteronism, Hypercalciuria, Polyuria, Hypertension, Decreased circulating re... OMIM:613677
Aneurysm, Intracranial Berry, 3
Cerebral berry aneurysm OMIM:609122
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage OMIM:603284
Dermographism, Familial
Stroke OMIM:125635
Hereditary Mixed Polyposis Syndrome
Colorectal polyposis, Hematochezia, Neoplasm of the gastrointestinal tract, Colon cancer, Refract... ORPHA:157794
Cerebral Amyloid Angiopathy, Cst3-Related
Cerebral hemorrhage, Intracranial hemorrhage, Stroke OMIM:105150
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Adenocarcinoma of the colon, Adenomatous colonic polyposis, Large intestina... ORPHA:247798
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Polydipsia, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Dec... ORPHA:231580
Hyperaldosteronism, Familial, Type I
Adrenogenital syndrome, Hyperaldosteronism, Hypertension, Abnormality of the urinary system, Decr... OMIM:103900
Adenocarcinoma Of The Anal Canal
Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolapse, Neoplasm of the sk... ORPHA:424016
Polymerase Proofreading-Related Adenomatous Polyposis
Colorectal polyposis, Breast carcinoma, Brain neoplasm, Neoplasm of the rectum, Adenocarcinoma of... ORPHA:447877
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Gastritis, Vomiting, Pancolitis, Chronic diarrhea, Abdominal pain, Abnormal inte... OMIM:619079
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Thyroid adenoma, Fibroma, Papilloma, Adenocarcinoma of the colon, Uterine l... ORPHA:220460
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Proteinuria, Nephritis, Microscopic hematuria, Ren... OMIM:161900
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Hypokalemia, Neoplasm of the adrenal gland, Glucocortocoid-insensitive primary h... ORPHA:231625
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Verrucae OMIM:613860
Apparent Mineralocorticoid Excess
Abnormality of circulating cortisol level, Hypokalemia, Nephrocalcinosis, Abnormal urine sodium c... ORPHA:320
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Neoplasm, Cleft palate OMIM:137215
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level OMIM:619406
Pfapa Syndrome
Weight loss, Infectious encephalitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Malabsorption,... ORPHA:42642
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Mismatch Repair Cancer Syndrome 1
Plexiform neurofibroma, Non-Hodgkin lymphoma, Neuroblastoma, Rhabdomyosarcoma, Leukemia, Lymphoma... OMIM:276300
Familial Hyperaldosteronism Type I
Hypokalemia, Dexamethasone-suppressible primary hyperaldosteronism, Hypertension, Polydipsia, Adr... ORPHA:403
Familial Hyperaldosteronism Type Iii
Hypokalemia, Hypercalciuria, Glucocortocoid-insensitive primary hyperaldosteronism, Prolonged QT ... ORPHA:251274
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Squamous cell carcinoma, Melanoma, Brain neoplasm, Breast carcinoma, Adenoca... ORPHA:79501
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Abnormal pulmonary interstitial morphology, Skin rash, Leukopenia, M... ORPHA:809
Periodic Fever, Familial, Autosomal Dominant
Erysipelas, Myositis, Gastrointestinal hemorrhage, Vomiting, Maculopapular exanthema, Cervical ly... OMIM:142680
Hall-Riggs Mental Retardation Syndrome
Kyphosis, Intrauterine growth retardation, Enamel hypoplasia, U-Shaped upper lip vermilion, Osteo... OMIM:234250
Corticosterone Methyloxidase Type Ii Deficiency
Orthostatic hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia, Renal sal... OMIM:610600
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyponatremia, Hyperkalemia, Renal salt wasting, Hypotension, Hyperactive renin-angiotensin system... OMIM:264350
Diarrhea 8, Secretory Sodium, Congenital
Elevated fecal sodium, Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Neuroendocrine Neoplasm Of Appendix
Intestinal carcinoid, Constipation, Protracted diarrhea, Mechanical ileus, Midgut malrotation, Fu... ORPHA:100079
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Failure to thrive in infancy, Autoimmune hemolytic anemia, Iron deficiency anemia... ORPHA:37042
Cap Polyposis
Colorectal polyposis, Hematochezia, Weight loss, Constipation, Abdominal pain, Abdominal distenti... ORPHA:160148
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia, Decreased circulating antibody level OMIM:615206
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea, Leukocytosis, Anemia OMIM:619398
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Hereditary nonpolyposis colorectal carcinoma OMIM:613244
Cerebral Cavernous Malformations
Cerebral cavernous malformation, Intracranial hemorrhage OMIM:116860
Immunodeficiency, Common Variable, 11
Crohn's disease, Mucoid diarrhea, Inflammation of the large intestine, Recurrent respiratory infe... OMIM:615767
Bartter Syndrome, Type 3
Impaired reabsorption of chloride, Hypokalemia, Hyperaldosteronism, Increased circulating renin l... OMIM:607364
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Immunodeficiency 76
Recurrent pneumonia, T lymphocytopenia, Colitis, Splenomegaly, Chronic diarrhea, B-cell lymphoma,... OMIM:619164
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Recurrent otitis media, Hypothyroidism, Uveitis, Chronic neutropenia, Autoimmune he... OMIM:614700
Dentinogenesis Imperfecta
Hyperextensibility at elbow, Finger joint hypermobility, Knee joint hypermobility, Abnormal denta... ORPHA:49042
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Recurrent opportunistic infections, Hepatomegaly, Ecz... OMIM:608971
Ménétrier Disease
Nausea, Weight loss, Giant hypertrophic gastritis, Gastrointestinal hemorrhage, Helicobacter pylo... ORPHA:2494
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level OMIM:605115
Anemia, Otitis media, Conjunctival hyperemia, Thrombocytopenia, Conjunctivitis, Skin rash, Cervic... ORPHA:3392
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormal trabecular bone morphology, Abnormality of primary teeth, Ab... ORPHA:83451
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Crohn's disease, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sple... OMIM:618935
Abetal34V Amyloidosis
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324703
Graft Versus Host Disease
Nausea, Gastrointestinal inflammation, Chronic hepatitis, Maculopapular exanthema, Inflammatory a... ORPHA:39812
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, Bronchiectasis, Recu... OMIM:616576
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Severe short stature, Diabetes mellitus, Enamel hypoplasia OMIM:202900
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Arthritis, Colitis, Inflammation of the large intestine, Eczema, Neutropenia, Failure to thrive, ... OMIM:608809
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal ... ORPHA:556030
Felty Syndrome
Episcleritis, Anemia, Thrombocytopenia, Recurrent pneumonia, Chronic otitis media, Pulmonary fibr... ORPHA:47612
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Recurrent otitis media, Abnormally low T cell receptor excision circle level, Monoc... OMIM:618986
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Increased circulating renin level, Hyperkalemia, Hypotension, Hyperactive renin-ang... OMIM:177735
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent Staphylococcus aureus infections, Recurrent otit... OMIM:613953
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Recurrent upper respiratory tract infections, Autoimmune hemolytic anemia, Autoi... OMIM:616100
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer OMIM:135290
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Increased inflammatory response, Acne, Lymphadenopathy, Pustule, Arthr... ORPHA:69126
Pfeiffer-Palm-Teller Syndrome
Short stature, Joint stiffness, Enamel hypoplasia ORPHA:2871
Liddle Syndrome 1
Hypokalemia, Decreased circulating aldosterone level, Hypertension, Decreased circulating renin l... OMIM:177200
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Cardiac arrest, Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Tub... ORPHA:139402
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Hyponatremia, Decreased serum creatinine, Hypernatriuria, Decre... OMIM:300539
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Lymphocytosis, Skin rash, Chronic mucocutaneous candidiasis, Abnorma... ORPHA:911
Loeffler Endocarditis
T-wave inversion, Right bundle branch block, Abnormal cardiomyocyte morphology, Endocardial fibro... ORPHA:75566
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Recurrent opportunistic infections, Conjunctivit... OMIM:601457
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Thoracic kyphoscoliosis, Flexion contracture, Severe postnatal growth retardation, Severe short s... OMIM:203550
Whipple Disease
Hypothyroidism, Myositis, Uveitis, Gastrointestinal hemorrhage, Infectious encephalitis, Splenome... ORPHA:3452
Immunodeficiency 48
Pneumonia, Splenomegaly, Hepatomegaly, Failure to thrive, Eczematoid dermatitis, Recurrent candid... OMIM:269840
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hepatic failure, Severe Epstein Barr virus infection, Hemophagocytosis, Infectious ... OMIM:308240
Sting-Associated Vasculopathy, Infantile-Onset
Tachypnea, Anemia, Malar rash, Lymphopenia, Skin rash, Leukopenia, Skeletal muscle atrophy, Throm... OMIM:615934
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Weight loss, Recurrent aphthous stomatitis, Inflammation of the large intestine,... OMIM:266600
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Microdontia, Anterior open-bite malocclusion, Enamel hypoplasia OMIM:301200
Familial Hyperaldosteronism Type Ii
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Adrenal hyperpl... ORPHA:404
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Hypothyroidism, Recurrent upper respiratory tract infections, ... OMIM:615952
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypokalemia, Primary adrenal insufficiency, Elevated circulating luteinizing hormone level, Ovari... ORPHA:90793
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Amelogenesis imperfecta, Pierre-Robin sequence, High palat... OMIM:618363
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
Intermediate Generalized Junctional Epidermolysis Bullosa
Oral mucosal blisters, Enamel hypoplasia, Scarring alopecia of scalp, Growth delay, Sparse body h... ORPHA:79402
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Second degree atrioventricular block, Hypokalemia, Nephrolithiasis, Adrenal hyperplasia, Pulmonar... ORPHA:369929
Immunodeficiency, Common Variable, 1
Recurrent pneumonia, Recurrent otitis media, Pneumonia, Recurrent bacterial infections, Splenomeg... OMIM:607594
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Squamous cell carcinoma, Pneumonia, Asthma, Verrucae, Recurrent sinusitis, Rec... ORPHA:217390
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Tubulointerstitial nephritis, Myoglobinuria, Re... ORPHA:228302
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Hypodontia, Nail dystrophy, Short stature, Dysphagia OMIM:616029
Yao Syndrome
Arthritis, Asthma, Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis... OMIM:617321
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Hypokalemia, Adrenocortical carcinoma, Incre... ORPHA:1501
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Recurrent infections, Recurrent skin infections, Erythema nodosum, Hemophagocytosis... OMIM:300635
Systemic Capillary Leak Syndrome
Pericarditis, Leukocytosis, Arrhythmia, Myocarditis, Pleural effusion, Hypotension, Cough, Rhinor... ORPHA:188
Lichtenstein Syndrome
Enamel hypoplasia, Carious teeth, Increased susceptibility to fractures, Osteoporosis, Neutropeni... OMIM:246550
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, R... ORPHA:444463
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Renal cortical adenoma, Ovarian neoplasm, Glucocortocoid-insensitive primary hyperal... ORPHA:231632
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Hyponatremia, Increased circulating renin level, Hyperkalemia, Abnormal ... ORPHA:556037
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial infections, Splenomegaly, Hepato... OMIM:240500
X-Linked Agammaglobulinemia
Anemia, Hepatitis, Thrombocytopenia, Conjunctivitis, Skin rash, Recurrent pneumonia, Osteomyeliti... ORPHA:47
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Pseudohypoparathyroidism, Delayed eruption of teeth, Short neck, Enamel hypoplasia, Obesity, Oste... OMIM:612463
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Recurrent infections, Myositis, Flexion contracture, Splenomegaly, Thrombocytopenia, C... OMIM:617591
Autosomal Agammaglobulinemia
Sinusitis, Recurrent infections, High palate, Recurrent skin infections, Arthritis, Cough, Mening... ORPHA:33110
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Increased circulating renin level, Hyperkalemia, Renal salt wasting, Hypotension, D... OMIM:203400
Stimmler Syndrome
Intrauterine growth retardation, Microdontia, Short stature, Abnormal dental enamel morphology, T... ORPHA:3199
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Hypertension, Cardiomyopathy, Pericarditis, Raynaud ph... ORPHA:767
East Syndrome
Hypokalemia, Increased circulating renin level, Polydipsia, Enuresis, Renal salt wasting, Salt cr... ORPHA:199343
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Myositis, Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, Prox... OMIM:253600
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Short stature, Malar flattening, Dental malocclusion, Widely spaced teeth OMIM:616108
Linear Iga Dermatosis
Renal neoplasm, Bladder neoplasm, Epistaxis, Inflammation of the large intestine ORPHA:46488
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent upper respiratory tract infections, Recurrent viral infections, Cholan... OMIM:209920
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Hypokalemia, Hypertension, Decreased circulating renin l... OMIM:218030
Fryns Macrocephaly
Short upper lip, Short philtrum, Short neck, Everted lower lip vermilion, Knee flexion contractur... OMIM:600302
Rat-Bite Fever
Pericarditis, Lymphadenitis, Erythema nodosum, Arthritis, Parotitis, Vomiting, Maculopapular exan... ORPHA:31205
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Recurrent infections, Hepatosplenomegaly, Increased proportion of memory ... OMIM:618982
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Hypokalemia, Premature pubarche, Polycystic ... ORPHA:90795
Kerion Celsi
Recurrent skin infections, Lymphadenopathy, Inflammatory abnormality of the skin, Alopecia, Recur... ORPHA:499
Cirrhosis, Familial
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
American Trypanosomiasis
Achalasia, Arrhythmia, Congestive heart failure, Infectious encephalitis, Splenomegaly, Cough, My... ORPHA:3386
Dilated cardiomyopathy, Weight loss, Gastrointestinal hemorrhage, Arrhythmia, Congestive heart fa... ORPHA:732
Corneal ulceration, Nausea, Cholangitis, Prostatitis, Decreased proportion of CD4-positive helper... ORPHA:2552
Adult-Onset Still Disease
Restrictive ventilatory defect, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Myocardi... ORPHA:829
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Primary Condylar Hyperplasia
Macrodontia, Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Abno... ORPHA:477781
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Scrub Typhus
Restrictive ventilatory defect, Infectious encephalitis, Splenomegaly, Cough, Myocarditis, Dyspne... ORPHA:83317
Immune-Mediated Necrotizing Myopathy
Myositis, Congestive heart failure, Skeletal muscle atrophy, Proximal muscle weakness in lower li... ORPHA:206569
48,Xyyy Syndrome
Primary gonadal insufficiency, High palate, Short neck, Long philtrum, Enamel hypoplasia, Azoospe... ORPHA:99329
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Erysipelas, Uveitis, Constipation, Fasciitis, Diarrhea, Conjunctivitis, Skin rash, Abnormal myoca... ORPHA:32960
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Alopecia, Enamel hypoplasia OMIM:614564
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Short neck, Kyphosis, Open bite, Craniofacial hyperostosis, Widely spaced teeth, Splenomegaly, Ma... ORPHA:61
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Colorectal Cancer, Hereditary Nonpolyposis, Type 2
Colon cancer OMIM:609310
Lynch Syndrome I
Colon cancer OMIM:120435
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Legionnaires Disease
Restrictive ventilatory defect, Bone marrow hypocellularity, Arrhythmia, Infectious encephalitis,... ORPHA:549
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urinary retention, Nephrolithiasis, Acute kidney injury, Proteinuria, Dysuria, Macrosco... ORPHA:976
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Elevated circulating creatinine concentration, Hematuria, Proteinur... OMIM:614817
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta, Alopecia of scalp, Trichodysplasia ORPHA:79129
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Abnormal neut... ORPHA:723
Bacterial Toxic-Shock Syndrome
Nausea, Severe infection, Increased circulating myelocyte count, Tachypnea, Hepatitis, Recurrent ... ORPHA:36234
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenogenital syndrome, Renal salt wasting, Hypertension, Adrenal hyperplasia, Hypospadias OMIM:201910
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Crohn's disease, Pyoderma, Colitis, Enterocolitis, Perianal abscess, Folliculitis OMIM:613148
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar OMIM:114700
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Decreased glomerular filtration rate, Polyuria, Renal s... OMIM:613090
Interstitial Lung Disease 1
Elevated bronchoalveolar lavage fluid neutrophil proportion, Nonspecific interstitial pneumonia, ... OMIM:619611
Dentin Dysplasia
Abnormality of dental morphology, Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Factor Vii Deficiency
Menorrhagia, Joint hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Epistaxis OMIM:227500
Dacryocystitis, Hepatitis, Keratitis, Intracranial hemorrhage, Hypersensitivity pneumonitis, Inva... ORPHA:1163
Maculopapular exanthema, Invasive fungal infection, Productive cough, Fasciitis, Keratitis, Lymph... ORPHA:228119
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Weight loss, Gastrostomy tube feeding in infancy, Feeding di... ORPHA:141152
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Sparse eyebrow, Short stature, Malar flattening, Abnormal dental enamel morpho... ORPHA:139474
Dens Evaginatus
Abnormality of the dentition, Talon cusp OMIM:125280
Abnormal respiratory system physiology, Sinusitis, Abnormal jejunum morphology, Pneumonia, Bronch... ORPHA:449280
Pseudomyxoma Peritonei
Constipation, Inflammation of the large intestine, Nausea and vomiting, Abdominal pain, Respirato... ORPHA:26790
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Nail dystrophy, Oral mucosal blisters, Enamel hypoplasia ORPHA:79406
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Enamel hypoplasia, Carious teeth, Nail dystrophy, Atrophic scars ORPHA:79405
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Bloody diarrhea, Leukocytosis, Abnormal pericardium morphology, Lung a... ORPHA:67
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Sparse eyebrow, Midline notch of upper alveolar ridge, Microgna... OMIM:129540
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Abdominal pain, Diarrhea, Weight loss OMIM:191390
Eosinophilic Fasciitis
Eosinophilia, Myositis, Weight loss, Abnormal eosinophil morphology, Muscular edema, Fasciitis, A... ORPHA:3165
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pericardium morphology, Hypertension, Dysphagia, Skin rash, Congestive heart failure, In... ORPHA:183
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology OMIM:612529
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis, Increased CD4:CD8 ratio, Impaired lymphocyte transfor... OMIM:617006
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Salt craving, Enuresis, Polyu... OMIM:612780
Mcdonough Syndrome
Short philtrum, Abnormal palate morphology, Kyphosis, Open bite, Micrognathia, Short stature, Sco... ORPHA:2471
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Familial Hypoaldosteronism
Hypovolemia, Adrenal insufficiency, Orthostatic hypotension, Hyponatremia, Decreased urinary pota... ORPHA:427
Aredyld Syndrome
Narrow mouth, Intrauterine growth retardation, Craniofacial hyperostosis, Aplasia/Hypoplasia of t... ORPHA:1133
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Enamel hypoplasia, Scarring alopecia of scalp, Carious teeth, Nail dystrophy, Anemia, Short statu... OMIM:226670
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Reduced renal corticomedullary differentiation, Hyponatremia, Hypochloremia, Decreas... OMIM:602522
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent otitis media, Viral hepatitis, Cholangitis, Severe infection, Recurrent streptococcal i... ORPHA:183675
Muir-Torre Syndrome
Benign genitourinary tract neoplasm, Adenoma sebaceum, Carcinoma, Colon cancer, Breast carcinoma,... OMIM:158320
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Q Fever
Abnormal vascular morphology, Maculopapular exanthema, Anemia, Hepatitis, Thrombocytopenia, Abnor... ORPHA:781
Nephrogenic Diabetes Insipidus
Hydroureter, Hypovolemia, Enuresis nocturna, Functional abnormality of the bladder, Hyposthenuria... ORPHA:223
Immune Thrombocytopenia
Bruising susceptibility, Petechiae, Gastrointestinal hemorrhage, Gingival bleeding, Cerebral hemo... ORPHA:3002
Acne Inversa, Familial, 3
Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis OMIM:613737
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Joint laxity, Osteoporosis, Growth delay, Short stature, Malar flattenin... OMIM:614727
Intermediate Osteopetrosis
Hepatosplenomegaly, Recurrent fractures, Sandwich appearance of vertebral bodies, Increased susce... ORPHA:210110
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Epistaxis, Cardiac arrest, Gastrointestinal hemorrhage, Arrhythmia, Constipation, Infectious ence... ORPHA:99745
Sjogren-Larsson Syndrome
Short stature, Thoracic kyphosis, Enamel hypoplasia OMIM:270200
Systemic Lupus Erythematosus
Leukopenia, Arthritis, Thrombocytopenia, Malar rash, Nephritis, Hemolytic anemia, Pericarditis, P... OMIM:152700
Immunodeficiency 14B, Autosomal Recessive
Recurrent pneumonia, Leukocytosis, Monocytosis, Thrombocytosis, Colitis, Neutrophilia, Chronic di... OMIM:619281
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Hypokalemia, Adrenogenital syndrome, Increas... OMIM:202010
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Nausea, Chemosis, Gastrointestinal hemorrhage, Invasive fungal infection, Ptosis, Hepatitis, Hema... ORPHA:73263
Hemifacial Atrophy, Progressive
Tongue atrophy, Patchy alopecia, Kyphosis, Delayed eruption of teeth, Poliosis, Dental malocclusi... OMIM:141300
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
Colchicine Poisoning
Oliguria, Hypovolemia, Hypokalemia, Hyponatremia, Arrhythmia, Congestive heart failure, Abnormal ... ORPHA:31824
Genetic Recurrent Myoglobinuria
Oliguria, Arrhythmia, Acute kidney injury, Hyperkalemia, Hypocalcemia, Recurrent myoglobinuria, H... ORPHA:99845
Micrognathia, Scoliosis, Decreased response to growth hormone stimulation test, High palate, Incr... ORPHA:763
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Rheumatoid arthritis, Otitis... ORPHA:331235
Microcephalic Primordial Dwarfism, Toriello Type
Intrauterine growth retardation, Enamel hypoplasia, Severe short stature, Neutropenia, Downturned... ORPHA:2643
Antisynthetase Syndrome
Myositis, Pruritus, Aortic regurgitation, Myocarditis, Cough, Pulmonary arterial hypertension, Ke... ORPHA:81
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Atrophic, patchy alopecia, Atypical scarring of skin, Enamel hypoplasia, Scar... ORPHA:251393
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Factor Xiii, A Subunit, Deficiency Of
Persistent bleeding after trauma, Bruising susceptibility, Abnormal umbilical stump bleeding, Ecc... OMIM:613225
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Pleural effusion, Hepatomegaly, Lymphadenopathy, Pericarditis, Anterior uveitis, Sk... ORPHA:85414
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy, Conjunctivitis, Arthritis OMIM:617772
Behçet Disease
Optic neuritis, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Pancreatitis, Mitral ... ORPHA:117
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Pediatric Systemic Lupus Erythematosus
Raynaud phenomenon, Increased circulating lactate dehydrogenase concentration, Myositis, Leukopen... ORPHA:93552
5-Oxoprolinase Deficiency
Abdominal pain, Enterocolitis, Diarrhea, Vomiting OMIM:260005
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Short stature, Scoliosis, Mandibular prognathia, Abnormality of the dentition, Dental m... ORPHA:1858
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Constrictive pericarditis, Gastrointestinal hemorrhage, Pleural eff... OMIM:602248
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Polyuria, Hyperactive renin-angiotensin system, Hyperaldosteronism, Hypomagnesemia, ... OMIM:601678
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Adrenal insufficiency, Hypothyroidism, Primary adrenal insufficiency, Cataract, A... OMIM:240300
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Thickened cortex of long bones, ... OMIM:144750
Liddle Syndrome 2
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:618114
Immunodeficiency 61
Recurrent otitis media, Colon cancer, Frequent Giardia lamblia infestation, Obesity, Recurrent si... OMIM:300310
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Intrauterine growth retardation, Small for gestational age... ORPHA:99886
Anonychia-Microcephaly Syndrome
Abnormality of the dentition, Carious teeth ORPHA:1094
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Widely-spaced incisors, Discolored lateral incisors, Conical mandibular incisor, Oligodontia, Joi... OMIM:601668
Auriculocondylar Syndrome 2
Narrow mouth, Micrognathia, Dental crowding, Glossoptosis, Ankylosis, Mandibular condyle hypoplas... OMIM:614669
Epidermolysis Bullosa, Junctional 1B, Severe
Enamel hypoplasia, Carious teeth, Nail dystrophy, Failure to thrive, Atrophic scars OMIM:226700
Focal Myositis
Myositis, Weight loss ORPHA:48918
Lymphoproliferative Syndrome 2
Pancytopenia, Recurrent pneumonia, Recurrent infections, Hepatosplenomegaly, Uveitis, Hemophagocy... OMIM:615122
Systemic Lupus Erythematosus, Susceptibility To, 6
Arthritis, Pleuritis, Malar rash, Pericarditis OMIM:609939
Majeed Syndrome
Leukocytosis, Flexion contracture, Congenital hypoplastic anemia, Splenomegaly, Cough, Acne, Hepa... ORPHA:77297
Microcephalic Primordial Dwarfism, Toriello Type
Intrauterine growth retardation, Enamel hypoplasia, Severe short stature, Micrognathia, Neutropenia OMIM:251190
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Crackles, Left bundle branch block, Ane... ORPHA:563
Reynolds Syndrome
Pruritus, Mucosal telangiectasiae, Infectious encephalitis, Gastroesophageal reflux, Hepatomegaly... ORPHA:779
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Renal salt wasting, Congenital adrenal hyperplasia, Hypospadias OMIM:201710
Growth Hormone Insensitivity Syndrome
Hypoglycemia, Diabetes insipidus, Delayed eruption of teeth, Insulin resistance, Everted lower li... ORPHA:181393
Agammaglobulinemia, X-Linked
Recurrent otitis media, Prostatitis, Anemia, Epididymitis, Recurrent urinary tract infections, Ly... OMIM:300755
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Myositis, Skeletal muscle atrophy, Proximal muscle weakness in lower limbs, Biliary atresia, Calf... ORPHA:565899
Pseudohypoparathyroidism, Type Ic
Hypothyroidism, Pseudohypoparathyroidism, Delayed eruption of teeth, Short neck, Enamel hypoplasi... OMIM:612462
Carnitine-Acylcarnitine Translocase Deficiency
Oliguria, Ventricular tachycardia, Arrhythmia, Elevated circulating acylcarnitine concentration, ... ORPHA:159
Macrophage Activation Syndrome
Increased circulating lactate dehydrogenase concentration, Abnormality of tumor necrosis factor s... ORPHA:158061
Inflammatory Bowel Disease 25, Autosomal Recessive
Rectovaginal fistula, Pancolitis, Recurrent bronchitis, Enterocutaneous fistula, Enterocolitis, P... OMIM:612567
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Hypovolemic shock, Hyponatremia, Abnormal circulating aldosterone, Arrhythmia, In... ORPHA:171876
Immunodeficiency 37
Colitis, Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious ence... OMIM:616098
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic diarrhea, Meningitis, Neutropenia, Anemia, Failure to thri... OMIM:616740
Ramon Syndrome
Generalized hirsutism, Delayed eruption of teeth, Gingival fibromatosis, Failure to thrive, Abnor... ORPHA:3019
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Decreased response to growth hormone stimulation test, L... OMIM:245590
Primary Sclerosing Cholangitis
Uveitis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ulcerative colitis, Palmar telangi... ORPHA:171
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... OMIM:125500
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Myocardial i... ORPHA:60033
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Pulmonary embolism, Purpura OMIM:614514
Craniosynostosis 3
Right unicoronal synostosis, Left unicoronal synostosis, Sagittal craniosynostosis, Low anterior ... OMIM:615314
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Amelogenesis imperfecta, Enamel hypoplasia OMIM:603641
Nausea, Sacroiliac arthritis, Abnormal aortic valve morphology, Arteritis, Anemia, Epididymitis, ... ORPHA:1304
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Adrenocorticotropic hormone excess, Hyponatr... ORPHA:90791
Cerebral Amyloid Angiopathy, App-Related
Stroke, Cerebellar hemorrhage, Tortuous cerebral arteries, Cerebral ischemia, Recurrent cerebral ... OMIM:605714
Trichothiodystrophy 9, Nonphotosensitive
Joint laxity, Sparse eyebrow, Sparse hair, High, narrow palate, Nail dystrophy, Dental malocclusi... OMIM:619692
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypokalemia, Nephrolithiasis, Pulmonary arterial hypertension, Hypertension, Decreased circulatin... OMIM:615474
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Flexion contracture, Skeletal muscle atrophy, Autoimmune hemolytic anemia, Splenomegaly... OMIM:619183
Dental Ankylosis
Tooth agenesis, Abnormal dental enamel morphology, Mandibular prognathia ORPHA:1077
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Atherosclerosis, Hepatic failure, Myocarditis, Dysphagia ORPHA:2724
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Short philtrum, Delayed eruption of teeth, Osteoporosis, Platyspondyly, Short stature, Dentinogen... ORPHA:71267
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Short stature, Abnormal dental ... ORPHA:1946
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Kohlschutter-Tonz Syndrome
Amelogenesis imperfecta, Enamel hypoplasia OMIM:226750
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Recurrent pneumonia, Recurrent infections, Hepatosplenomegaly, Pneum... ORPHA:169160
Immunodeficiency 70
Achalasia, Colitis, Decreased proportion of CD4-positive helper T cells, Verrucae, Recurrent sinu... OMIM:618969
Mannose-Binding Lectin Deficiency
Recurrent skin infections, Disseminated cryptosporidium infection, Failure to thrive, Recurrent m... OMIM:614372
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Hematuria, Nephrolithiasis, Renal insuff... OMIM:614723
Hypocomplementemic Urticarial Vasculitis
Uveitis, Episcleritis, Diarrhea, Conjunctivitis, Skin rash, Emphysema, Cough, Small vessel vascul... ORPHA:36412
Maxillonasal Dysplasia, Binder Type
Dental malocclusion, Vertebral clefting, Patchy distortion of vertebrae OMIM:155050
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Dissecting Cellulitis Of The Scalp
Abnormal hair morphology, Pruritus, Recurrent skin infections ORPHA:345
Amelogenesis Imperfecta, Type Iiic
Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... OMIM:618386
Progeria-Short Stature-Pigmented Nevi Syndrome
Microcytic anemia, Generalized osteoporosis, Bifid uvula, Decreased serum estradiol, Micrognathia... ORPHA:2959
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... OMIM:204650
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Myocardial fibrosis OMIM:617222
Congenital Factor V Deficiency
Persistent bleeding after trauma, Bruising susceptibility, Hematochezia, Spontaneous hematomas, G... ORPHA:326
Intellectual Developmental Disorder, Autosomal Recessive 39
Short stature, Kyphoscoliosis, Dental malocclusion, Synophrys OMIM:615541
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Nodular pattern on pulmonary HRCT, Crazy paving pattern, Honeycomb lung, Co... OMIM:610921
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Non-Hodgkin lymphoma, Squamous cell carcinoma, Colon cancer, Breast carcinoma, Neoplasm of the re... ORPHA:454840
Increased bone mineral density, Persistence of primary teeth, Osteolytic defects of the distal ph... OMIM:265800
Dermatitis, Atopic
Pruritus, Recurrent skin infections, Asthma, Cataract, Eczema, Allergic rhinitis, Atopic dermatit... OMIM:603165
Idiopathic Achalasia
Gastroesophageal reflux, Cough, Malnutrition, Dysphagia, Recurrent aspiration pneumonia, Weight l... ORPHA:930
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Polyuria, Hyperactive renin-angiotensin system, Hyperaldosteronism, Hypomagnesemia, ... OMIM:241200
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Elevated circulating creatinine concentration, Acute kidney injury, Abnormal ... ORPHA:567544
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Lymphadenitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Pr... ORPHA:331206
Osteogenesis Imperfecta, Type V
Hyperextensibility at elbow, Osteopenia, Recurrent fractures, Vertebral wedging, Platyspondyly, J... OMIM:610967
Severe infection, Scleritis, Dacryocystitis, Productive cough, Liver abscess, Keratitis, Conjunct... ORPHA:31204
Rheumatic Fever
Sinusitis, Abnormal heart valve morphology, Arrhythmia, Constipation, Abnormal mitral valve morph... ORPHA:3099
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Yellow-brown discoloration of the teeth, ... ORPHA:1028
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Rubinstein-Taybi Syndrome 2
High palate, Long eyelashes, Carious teeth, Micrognathia, Increased overbite, Hirsutism, Retrogna... OMIM:613684
Glanzmann Thrombasthenia 1
Bruising susceptibility, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Pr... OMIM:273800
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Colitis, Thrombocytopenia, Hemolytic anemia, Anterior uveitis, Lymphopenia, Skin rash OMIM:616744
Atkin-Flaitz Syndrome
Exaggerated median tongue furrow, Kyphosis, Joint laxity, Thick lower lip vermilion, Obesity, Max... OMIM:300431
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Infectious encephalitis, Recurrent bacterial infect... OMIM:307200
Amelogenesis Imperfecta, Type If
Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia OMIM:616270
Juvenile Nephropathic Cystinosis
Glycosuria, Hypokalemia, Hypothyroidism, Elevated circulating creatinine concentration, Proteinur... ORPHA:411634
Congenital Enterovirus Infection
Abnormal macrophage morphology, Hepatic failure, Leukopenia, Leukocytosis, Cholestasis, Infectiou... ORPHA:292
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Myositis, Muscle fiber atrophy, Skeletal muscle atrophy, Myopathy, Rimmed vacuoles, Elevated circ... OMIM:615422
Acute Adrenal Insufficiency
Hypovolemia, Orthostatic hypotension, Hyponatremia, Decreased urinary potassium, Hypercalcemia, I... ORPHA:95409
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Sterile abscess, Sterile arthritis, Hepatosplenomegaly, Thromboc... OMIM:604416
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Moderately short stature, High palate, Bifid uvula, Osteopenia, Delayed eruption of teeth, Joint ... OMIM:612350
Whim Syndrome
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pneumonia, Lymphade... ORPHA:51636
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
High palate, Enamel hypoplasia, Malar flattening, Mandibular prognathia, Kyphoscoliosis OMIM:600991
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent pneumonia, Lymphadenitis, Rectal abscess, Splenomegaly, Hepatomegaly, Osteomyelitis, Ec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent pneumonia, Lymphadenitis, Rectal abscess, Splenomegaly, Hepatomegaly, Osteomyelitis, Ec... OMIM:233710
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Pseudohypoparathyroidism, Type Ia
Hypothyroidism, Pseudohypoparathyroidism, Delayed eruption of teeth, Short neck, Enamel hypoplasi... OMIM:103580
Isolated Agammaglobulinemia
Sinusitis, Abnormal lymphocyte morphology, Pneumonia, Inflammatory abnormality of the eye, Thromb... ORPHA:229717
Interstitial cardiac fibrosis, Uveitis, Hypohidrosis, Abnormality of the small intestine, Episcle... ORPHA:801
Nephronophthisis-Like Nephropathy 2
Periglomerular fibrosis, Elevated circulating creatinine concentration, Polyuria, Renal insuffici... OMIM:619468
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent infections, Recurrent skin infections, Atrial septal defect, Recurrent respiratory infe... OMIM:617744
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma OMIM:114550
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Kyphosis, Joint laxity, Thick lower lip vermilion, Obesity, Max... OMIM:300602
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczema, Diarrhea OMIM:613960
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology ORPHA:324708
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Dysphagia, Arthrogryposis multiplex congenita, Mandibular prognathia, Dental maloccl... OMIM:608931
Mulibrey Nanism
Hypoplastic frontal sinuses, Intrauterine growth retardation, Enamel hypoplasia, Thickened cortex... OMIM:253250
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Folate-unresponsive megaloblastic anemia, Gastritis, Megaloblastic anemia, Recurrent respiratory ... ORPHA:2575
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Intellectual Disability And Myopathy Syndrome
Achilles tendon contracture, Limited elbow extension, Widely-spaced maxillary central incisors, S... OMIM:619719
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Pulmonary Blastoma
Recurrent pneumonia, Cough, Dyspnea, Pleuropulmonary blastoma, Weight loss ORPHA:64741
Avian Influenza
Increased circulating lactate dehydrogenase concentration, Hypoxemia, Tachypnea, Productive cough... ORPHA:454836
Short Syndrome
Lipodystrophy, Birth length less than 3rd percentile, Delayed eruption of teeth, Intrauterine gro... OMIM:269880
Juvenile Polyposis Syndrome
Hematochezia, Colon cancer, Intussusception, Rectal prolapse, Abdominal pain, Failure to thrive, ... OMIM:174900
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Salmonella osteomyelitis, Lymphadenitis, Pneumonia, Vasculitis in the skin ORPHA:319552
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Hemophagocytosis, Colitis, Sple... OMIM:613101
Myasthenia Gravis
Myositis, Primary adrenal insufficiency, Hashimoto thyroiditis, Abnormality of the thymus, Hypert... ORPHA:589
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Asthma, Recurrent sinusitis, Chronic active hepatitis OMIM:614379
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Interstitial pneumonitis, Splenomegaly, Neutropen... ORPHA:231154
Halothane Hepatitis
Eosinophilia, Viral hepatitis, Hepatitis, Jaundice OMIM:234350
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent pneumonia, Lymphadenitis, Rectal abscess, Splenomegaly, Hepatomegaly, Osteomyelitis, Ec... OMIM:233690
Microscopic Polyangiitis
Sinusitis, Uveitis, Gastrointestinal hemorrhage, Arrhythmia, Arthritis, Congestive heart failure,... ORPHA:727
Thymic Aplasia
Hypothyroidism, Severe infection, Invasive fungal infection, Atypical or prolonged hepatitis, Rec... ORPHA:83471
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Pruritus, Chronic diarrhea, Jaundice, Elevated hepatic transaminase, Cholestatic ... ORPHA:65682
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Increased circulating renin level, Hypercalciuria... OMIM:601198
Cerebellofaciodental Syndrome
Short neck, Sparse eyebrow, Fine hair, Sparse hair, Short stature, Scoliosis, Dental malocclusion... OMIM:616202
Pfeiffer-Palm-Teller Syndrome
Short stature, Joint stiffness, Enamel hypoplasia OMIM:261560
Shwachman-Diamond Syndrome 1
Pancytopenia, Exocrine pancreatic insufficiency, Recurrent infections, Small for gestational age,... OMIM:260400
Benign Cephalic Histiocytosis
Histiocytosis, Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Robinow Syndrome, Autosomal Dominant 2
Sacral dimple, Long philtrum, Abnormality of the dentition, Cleft soft palate, Micrognathia, Kyph... OMIM:616331
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Recurrent respir... OMIM:618495
Cyanosis And Hepatic Disease
Hepatitis, Dyspnea OMIM:219400
Thymic Tumor
Cardiac arrest, Cough, Dyspnea, Neoplasm of the thymus, Dysphagia, Pericarditis, Mediastinal lymp... ORPHA:100100
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Kyphosis, Recurrent fractures, Multiple prenatal fractures, Pla... OMIM:259440
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Recurrent infections, Hepatomegaly, Ptosis, Eczema, Failure to thrive, Ly... OMIM:615895
Dentin Dysplasia With Sclerotic Bones
Abnormality of the dentition, Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Multicentric Reticulohistiocytosis
Histiocytosis, Arthritis, Cachexia ORPHA:139436
Immunodeficiency 68
T lymphocytopenia, Recurrent skin infections, Lymphadenitis, Abnormal natural killer cell count, ... OMIM:612260
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatic failure, Cholestasis, Hepatocellular necros... OMIM:231100
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia, Vein of Galen aneurysmal malformation OMIM:618196
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Infectious encephalitis, Maculopapular exanthema, Colitis, Splenomegaly, Hepato... ORPHA:540
Reversible Cerebral Vasoconstriction Syndrome
Vasospasm, Cerebral hemorrhage, Subarachnoid hemorrhage, Dilatation of the cerebral artery, Trans... ORPHA:284388
Syndromic Diarrhea
Hepatoblastoma, Brittle hair, Hypothyroidism, Woolly hair, Ventricular septal defect, Villous atr... ORPHA:84064
Hirschsprung Disease, Susceptibility To, 1
Abnormality of enteric ganglion morphology, Constipation, Aganglionic megacolon, Abdominal disten... OMIM:142623
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Crohn's disease, Decreased proportion of memory B cells, ... OMIM:618394
Familial Cervical Artery Dissection
Stroke, Dilatation of the cerebral artery, Transient ischemic attack, Hypertension, Cerebral isch... ORPHA:36382
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Short philtrum, Delayed eruption of teeth, Alopecia, Anemia, Abnormal dental enamel morphology, M... ORPHA:2325
Congenital Factor Vii Deficiency
Epistaxis, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhagia, Gingival bleeding, ... ORPHA:327
+173470 integrin, beta-3
Bruising susceptibility, Gastrointestinal hemorrhage, Purpura, Menorrhagia, Gingival bleeding, Ab... OMIM:173470
Immunodeficiency 15A
Recurrent otitis media, Decreased proportion of memory B cells, Cutaneous abscess, Acne inversa, ... OMIM:618204
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperlipidemia, Nephrolithiasis, Macronodular adrenal hyperplasia, Abnormal response to corticotr... ORPHA:189427
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Splenomegaly, Hepatomegaly, Anemia, Pericarditis, Abnormal hemoglobin ORPHA:163596
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Eosinophilia, Hypothyroidism, Severe infection, Coombs-positive hemolytic anemia, Autoimmu... OMIM:304790
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infe... OMIM:612692
Mandibuloacral Dysplasia With Type B Lipodystrophy
Brittle hair, Decreased adipose tissue around neck, Micrognathia, Acroosteolysis of distal phalan... OMIM:608612
Gitelman Syndrome
Hypokalemia, Ventricular tachycardia, Delayed puberty, Increased circulating renin level, Polydip... OMIM:263800
Pyle Disease
Absent paranasal sinuses, Hypoplastic frontal sinuses, Delayed eruption of teeth, Carious teeth, ... OMIM:265900
Potocki-Lupski Syndrome
High palate, Hypothyroidism, Small for gestational age, Oral-pharyngeal dysphagia, Micrognathia, ... OMIM:610883
Dental Anomalies And Short Stature
Herniation of intervertebral nuclei, Amelogenesis imperfecta, Intervertebral space narrowing, Oli... OMIM:601216
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Hypertension, Decreased circu... OMIM:615954
Juvenile Temporal Arteritis
Eosinophilia, Allergic rhinitis, Leukocytosis, Conjunctivitis ORPHA:26137
Sweet Syndrome
Sterile abscess, Recurrent infections, Myositis, Leukocytosis, Dilated cardiomyopathy, Acne inver... ORPHA:3243
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Myeloid leukemia, Pustule ORPHA:48104
Nausea, Arteritis, Liver abscess, Conjunctivitis, Diarrhea, Pyelonephritis, Unusual skin infectio... ORPHA:533
Familial Mediterranean Fever
Erysipelas, Constipation, Pancreatitis, Diarrhea, Skin rash, Arrhythmia, Osteoarthritis, Acute he... ORPHA:342
Intestinal perforation, Nausea, Hepatic failure, Uveitis, Failure to thrive in infancy, Cholestas... ORPHA:810
Mucopolysaccharidosis Type 4
Short neck, Kyphosis, Hernia, Carious teeth, Hyperlordosis, Platyspondyly, Short stature, Abnorma... ORPHA:582
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Recurrent otitis media, Anemia, Hepatitis, Villous atrophy, Diarrhea... OMIM:619381
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Thick vermilion border, Carious teeth, Sparse lateral eyebrow, Enamel hypoplasia ORPHA:363523
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cholelithiasis, Hepatosplenomegaly, Gastric ulcer, Bacterial endocarditis, Corneal ... ORPHA:2072
Malignant Atrophic Papulosis
Intestinal perforation, Abnormal myocardium morphology, Gastrointestinal hemorrhage, Abnormal per... ORPHA:679
Autoimmune Polyendocrinopathy Type 4
Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Macrocytic anemia, Autoimmune th... ORPHA:227990
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Failure to thrive, Cardiomyopathy, Respiratory d... ORPHA:79312
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Papilloma, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolapse, Neoplas... ORPHA:424019
Wilson Disease
Hepatic steatosis, Pruritus, Cirrhosis, Weight loss, Kayser-Fleischer ring, Proximal muscle weakn... ORPHA:905
Igg4-Related Kidney Disease
Prostatitis, Arteritis, Membranous nephropathy, Inflammatory abnormality of the skin, Pancreatiti... ORPHA:449395
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Lymphadenitis, Rectal abscess, Splenomegaly, Pleural effusion, Hepatomegaly,... OMIM:306400
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Dilated cardiomyopathy, Hepatic steatosis, Elevated circulating alanine aminot... OMIM:618805
Autoimmune Lymphoproliferative Syndrome
Uveitis, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, Recurr... ORPHA:3261
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Acute tubulointerstitial nephritis, Elevated circulating creatinine c... ORPHA:340
Systemic Sclerosis
Interstitial cardiac fibrosis, Hypohidrosis, Nail bed telangiectasia, Abnormality of the small in... ORPHA:90291
Short Stature, Dauber-Argente Type
Osteopenia, Delayed eruption of teeth, Fasting hyperinsulinemia, Short stature, Postnatal growth ... OMIM:619489
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Polyhydramnios, Hyperactive renin-angiotensin system, D... OMIM:214700
Cockayne Syndrome Type 2
Flexion contracture, Widely spaced primary teeth, Intrauterine growth retardation, Enamel hypopla... ORPHA:90322
Drug-Induced Lupus Erythematosus
Dyspnea, Prolonged QTc interval, Anemia, Malar rash, Pericarditis, Serositis, Thrombocytopenia, P... ORPHA:231111
Autoimmune Polyendocrinopathy Type 3
Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Macrocytic anemia, Hashimoto thy... ORPHA:227982
Crome Syndrome
Renal tubular epithelial necrosis OMIM:218900
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical carcinoma, Colon cancer, Osteoma, Lipoma, Pilomatrixoma, Adenomatous colonic polyp... ORPHA:247806
Cardiogenic Shock
Oliguria, ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugul... ORPHA:97292
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
Myositis, Neoplasia of the pleura, Leukemia, Neoplasm of the gastrointestinal tract, Glomerulonep... ORPHA:99867
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Acute kidney injury, Dysuria, Macroscopic hematuri... ORPHA:79233
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Cellulitis, Osteopenia, Monocytosis, Leukemia, Periodontitis, Acute myeloid leukemi... ORPHA:486
Congenital Pancreatic Cyst
Vomiting, Jaundice, Pancreatitis ORPHA:313906
Intellectual Disability, Birk-Barel Type
Short philtrum, Sacral dimple, Contractures involving the joints of the feet, Open mouth, Incisor... ORPHA:166108
Cohen Syndrome
Short philtrum, Thoracic scoliosis, Leukopenia, Delayed puberty, Small for gestational age, Open ... OMIM:216550
Ectodermal Dysplasia-Syndactyly Syndrome 1
Patchy alopecia, Coarse hair, Pili torti, Enamel hypoplasia, Conical tooth, Widely spaced teeth, ... OMIM:613573
Dyskeratosis Congenita, Autosomal Dominant 1
Premature graying of hair, Oral leukoplakia, Bone marrow hypocellularity, Interstitial pneumoniti... OMIM:127550
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Constipation, Bundle branch block, Telangiectasia of the skin, Dysph... ORPHA:93672
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Adrenal insufficiency, Flexion contracture, Hypodontia, Carious teeth, Central adrenal insufficie... OMIM:612079
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level, Hypercalciuria, Poly... OMIM:300971
Pneumonia, Unusual skin infection, Brain abscess, Lung abscess, Parotitis, Cutaneous abscess, Pro... ORPHA:31202
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal resorption, Dilated cardiomyopathy, Nephrocalcinosis, Hypermagnesiuria, Congestive... ORPHA:73224
Mandibuloacral Dysplasia
Increased subcutaneous truncal adipose tissue, Micrognathia, Acroosteolysis of distal phalanges (... ORPHA:2457
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Sparse hair, Enamel hypoplasia OMIM:613576
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Infectious encephalitis OMIM:616532
Primary Sjögren Syndrome
Optic neuritis, Biliary cirrhosis, Chronic hepatitis, Decreased proportion of CD4-positive helper... ORPHA:289390
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Hepatitis, Inflammatory abnormality of the skin, Villous atrophy, Re... ORPHA:391487
Myositis OMIM:160750
Alopecia Antibody Deficiency
Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Sparse body hair, Short stature, ... ORPHA:1006
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
X-Linked Lymphoproliferative Disease
Pancytopenia, Hepatic failure, Absent natural killer cells, Histiocytosis, Increased T cell count... ORPHA:2442
Immunodeficiency 27A
Hepatosplenomegaly, Pneumonia, Histiocytosis, Leukocytosis, Thrombocytosis, Increased inflammator... OMIM:209950
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypothyroidism, Hypoglycemia, Long philtrum, Fine hair, Micrognathia, Scoliosis, Diabetes mellitu... ORPHA:391408
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Kyphosis, Joint laxity, Cervical subluxation, Carious teeth, Widely space... OMIM:253000
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Oculocerebrodental Syndrome
Abnormality of the frontal hairline, Thoracic kyphosis, Enamel hypoplasia, Oligodontia, Microdont... ORPHA:557003
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Adrenocorticotropic hormone excess, Renal salt wasting, Hyperaldosteronism OMIM:613743
Amoebiasis Due To Free-Living Amoebae
Corneal ulceration, Sinusitis, Nausea, Pneumonia, Unusual skin infection, Corneal perforation, Ar... ORPHA:68
Mandibuloacral Dysplasia With Type A Lipodystrophy
Micrognathia, Acroosteolysis of distal phalanges (feet), High palate, Flexion contracture, Hyperi... OMIM:248370
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Obesity, Maxillary lateral incisor microdontia, Short stature, Abnor... ORPHA:1193
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Pseudohypoparathyroidism, Increased bone mineral density, Pituitary resista... ORPHA:94089
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis, Lymphocytic interstitial pneumonia OMIM:247610
Gitelman Syndrome
Hypokalemia, Proteinuria, Hashimoto thyroiditis, Hypomagnesemia, Neoplasm of the pancreas, Renal ... ORPHA:358
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Kyphosis, Joint laxity, Cervical subluxation, Carious teeth, Widely space... OMIM:253010
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia OMIM:609886
Liddle Syndrome
Hypokalemia, Arrhythmia, Hypertension, Nephropathy, Renal insufficiency, Cerebral ischemia ORPHA:526
Blackfan-Diamond Anemia
High palate, Leukopenia, Small for gestational age, Cleft soft palate, Thrombocytosis, Osteosarco... ORPHA:124
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurrent pneumo... ORPHA:277
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Hyperactivity, Sick sinus syndrome, Bradycardia, Attention deficit hyperactivity diso... OMIM:617182
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatic failure, Hepatomegaly, Jaundice, Hepatitis ORPHA:60
Pseudo-Torch Syndrome 3
Apnea, Lymphadenitis, Leukocytosis, Respiratory insufficiency, Anemia, Hypertension, Cerebral hem... OMIM:618886
Kikuchi-Fujimoto Disease
Anemia, Malar rash, Lymphocytosis, Thrombocytopenia, Abnormal pulmonary interstitial morphology, ... ORPHA:50918
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Generalized hirsutism, Shagreen patch, Delayed eruption of teeth, Hypodontia, Short stature, Dela... ORPHA:1816
Immunodeficiency 17
Recurrent otitis media, Autoimmune hemolytic anemia, Eczema, Recurrent respiratory infections, Fa... OMIM:615607
Acrootoocular Syndrome
Choking episodes, Delayed eruption of teeth, Small for gestational age, Supernumerary tooth, Micr... ORPHA:2980
Bone Marrow Failure Syndrome 3
Pancytopenia, Amelogenesis imperfecta, Intrauterine growth retardation, Enamel hypoplasia, Hernia... OMIM:617052
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Prostatitis, Hypertension, Otitis media, Pancreatitis, Skin rash, Ar... ORPHA:900
Muckle-Wells Syndrome
Restrictive ventilatory defect, Uveitis, Arthritis, Splenomegaly, Hepatomegaly, Episcleritis, Rec... ORPHA:575
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Weakness of facial musculature, Aspiration pneumonia, Scapular winging, ... OMIM:619477
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Short stature, Pathologic fracture, Dentinogenesis imperfecta, Abnormal cortical bone morphology,... ORPHA:166277
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Recurrent fractures, Hypophosphatemic rickets, Growth delay, Alopecia, Abnormality of... OMIM:163200
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Feeding difficulties in infancy, Diffuse alveolar hemorrhage, Splenomegaly, Anemia,... OMIM:616050
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Arthritis OMIM:208250
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Ulcerative colitis, Interstitial pneumonitis, Bronchiolitis OMIM:614878
Pericardial Effusion, Chronic
Retinal arteriolar tortuosity, Constrictive pericarditis, Pericardial effusion, Polycythemia OMIM:260900
Griscelli Syndrome
Premature graying of hair, Leukopenia, Bone marrow hypocellularity, Abnormal eyelash morphology, ... ORPHA:381
Bartter Syndrome Type 4
Hypokalemia, Nephrocalcinosis, Hyponatremia, Hypochloremia, Acute kidney injury, Hypercalciuria, ... ORPHA:89938
Chylous Ascites
Abnormal intestine morphology, Pancreatitis ORPHA:1160
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concentration, B... ORPHA:95717
Congenital Factor Ii Deficiency
Abnormal umbilical stump bleeding, Epistaxis, Oral cavity bleeding, Prolonged bleeding following ... ORPHA:325
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Decreased proportion of CD4-positive helpe... OMIM:312863
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Trichoodontoonychial Dysplasia With Bone Deficiency
Enamel hypoplasia, Supernumerary nipple, Nail dystrophy, Anodontia, Sparse hair OMIM:275450
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Increased bone mineral d... ORPHA:3352
Factor X Deficiency
Menorrhagia, Gingival bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial hemorr... OMIM:227600
48,Xxyy Syndrome
Infertility, Delayed eruption of teeth, Open bite, Tall stature, Azoospermia, Carious teeth, Thic... ORPHA:10
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Recurrent bacterial infections, Recurrent respiratory infections, Recurre... OMIM:613493
Trichohepatoenteric Syndrome 2
Brittle hair, Woolly hair, Small for gestational age, Colitis, Hepatomegaly, Sparse hair, Trichor... OMIM:614602
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Delayed eruption of teeth, Supernumerary tooth, Micrognathia, Decreased response to ... OMIM:264475
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Failure to thrive in infancy, Skin rash OMIM:619175
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Cholestasis, Elevated gamma-glutamyltransferase level, Severe cytomegalovirus in... OMIM:619573
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Neoplasm of the gastrointestinal tract, Sarco... ORPHA:44890
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Facial edema, Reduced radioactive iodine uptake, Goiter, Thy... ORPHA:95716
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Abnormal palate morphology, Shagreen patch, Kyphosis, Open bite, Sever... ORPHA:2617
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Failure to thriv... OMIM:613812
Malocclusion Due To Protuberant Upper Front Teeth