Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
transforming growth factor, beta 1
Synonyms:
TGF-beta 1,  Tgfb-1,  Tgfb,  TGFbeta1,  TGF-beta1

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
phenotypes
Matching phenotypes Source
Aneurysm, Intracranial Berry, 1
Intracranial hemorrhage, Dilatation of the cerebral artery OMIM:105800
Aneurysm, Intracranial Berry, 2
Subarachnoid hemorrhage, Cerebral berry aneurysm OMIM:608542
Stroke, Ischemic
Stroke OMIM:601367
Moyamoya Disease 2
Transient ischemic attack, Moyamoya phenomenon OMIM:607151
Internal Carotid Absence
Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia ORPHA:981
Hypouricemia, Renal, 1
Acute kidney injury, Hypouricemia, Uric acid nephrolithiasis, Renal tubular epithelial necrosis, ... OMIM:220150
Aneurysm, Intracranial Berry, 12
Subarachnoid hemorrhage, Cerebral berry aneurysm, Fusiform cerebral aneurysm OMIM:618734
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, T lymphocytopenia, Bronchiectasis, Reduced natura... OMIM:618108
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Polyuria, Hyperaldosteronism, Hypertension, Hypercalciuria, Decreased circulating ren... OMIM:613677
Aneurysm, Intracranial Berry, 3
Cerebral berry aneurysm OMIM:609122
Dermographism, Familial
Stroke OMIM:125635
Cerebral Cavernous Malformations 2
Cerebral hemorrhage, Cerebral cavernous malformation, Telangiectasia, Stroke OMIM:603284
Hereditary Mixed Polyposis Syndrome
Rectal polyposis, Neoplasm of the gastrointestinal tract, Prostate cancer, Adenocarcinoma of the ... ORPHA:157794
Cerebral Amyloid Angiopathy, Cst3-Related
Intracranial hemorrhage, Cerebral hemorrhage, Stroke OMIM:105150
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Colorectal polyposis, Large intestinal polyposis, ... ORPHA:247798
Primary Unilateral Adrenal Hyperplasia
Palpitations, Polydipsia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive prim... ORPHA:231580
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Hyperaldosteronism, Hypertension, Decreased circulating renin ... OMIM:103900
Adenocarcinoma Of The Anal Canal
Intestinal bleeding, Anal stenosis, Neoplasm of the rectum, Abdominal pain, Neoplasm of the liver... ORPHA:424016
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Fibroma, Uterine leiomyoma, Colorectal polyposis, ... ORPHA:220460
Polymerase Proofreading-Related Adenomatous Polyposis
Adenocarcinoma of the colon, Neoplasm of the rectum, Endometrial carcinoma, Colorectal polyposis,... ORPHA:447877
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Abdominal pain, Chronic diarrhea, Ileitis, Protein-losing enteropathy, P... OMIM:619079
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Pfapa Syndrome
Abdominal pain, Weight loss, Hepatomegaly, Encephalitis, Splenomegaly, Nausea and vomiting, Recur... ORPHA:42642
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Increased circulating cortisol level, Neoplasm of the adrenal gland, Intracranial 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
Renal insufficiency, Polydipsia, Hypertension, Abnormality of circulating cortisol level, Decreas... ORPHA:320
Gastric Cancer, Hereditary Diffuse
Neoplasm, Stomach cancer, Chronic atrophic gastritis, Cleft palate OMIM:137215
Hypokalemic Tubulopathy And Deafness
Increased circulating renin level, Hyperaldosteronism OMIM:619406
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Periodic Fever, Familial, Autosomal Dominant
Skin rash, Pleuritis, Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Maculopapula... OMIM:142680
Mismatch Repair Cancer Syndrome 1
Non-Hodgkin lymphoma, Basal cell carcinoma, Adenocarcinoma of the colon, Medulloblastoma, Neurobl... OMIM:276300
Mixed Connective Tissue Disease
Skin rash, Pleuritis, Pericarditis, Xerostomia, Leukopenia, Myocarditis, Pulmonary arterial hyper... ORPHA:809
Familial Hyperaldosteronism Type I
Intracranial hemorrhage, Polydipsia, Secretory adrenocortical adenoma, Epistaxis, Hypertension, A... ORPHA:403
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Polydipsia, Epistaxis, Hypertension, Glucocortocoid-insensitive primary ... ORPHA:251274
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nasogastric tube feeding, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Neutropen... ORPHA:37042
Hall-Riggs Mental Retardation Syndrome
Osteoporosis, Enamel hypoplasia, Scoliosis, Platyspondyly, Thick lower lip vermilion, Hypoplasia ... OMIM:234250
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hypotension, Hyperactive renin-angiotensin system, Hyponatremia, Renal salt wasting, Hyperaldoste... OMIM:264350
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Orthostatic hypotension, Hyponatremia, Renal salt was... OMIM:610600
Thymoma
Skin rash, Pericarditis, Thyroiditis, Cough, Abnormality of the peritoneum, Pancytopenia, Xerosto... ORPHA:99867
Neuroendocrine Neoplasm Of Appendix
Adenocarcinoma of the colon, Ovarian neoplasm, Abdominal colic, Hypoactive bowel sounds, Anorexia... ORPHA:100079
Tularemia
Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Cough, Pneumonia, Anemi... ORPHA:3392
Immunodeficiency 11
Decreased circulating antibody level, Recurrent respiratory infections, Pneumonia OMIM:615206
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Abnormal proporti... ORPHA:133
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Joint stiffness, Short stature ORPHA:2871
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... OMIM:608971
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea OMIM:619398
Graft Versus Host Disease
Pneumonia, Maculopapular exanthema, Chronic hepatitis, Jaundice, Diarrhea, Skeletal muscle atroph... ORPHA:39812
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
Bartter Syndrome, Type 3
Hypocalciuria, Hypotension, Renal potassium wasting, Polyuria, Hyperactive renin-angiotensin syst... OMIM:607364
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Decreased proportion of class-switched memory B cells, Mucoi... OMIM:615767
East Syndrome
Inability to walk, Difficulty walking, Enuresis, Increased circulating renin level, Renal salt wa... ORPHA:199343
Dentinogenesis Imperfecta
Joint hypermobility, Finger joint hypermobility, Generalized hypoplasia of dental enamel, Abnorma... ORPHA:49042
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Hyperlipoproteinemia, Type Id
Splenomegaly, Failure to thrive, Colitis OMIM:615947
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension OMIM:605115
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Abscess, Recurrent tonsillitis, Hemolytic anemia, Pulmonary fibrosis, Lymphadenitis, Pleural effu... OMIM:618935
Ménétrier Disease
Multiple gastric polyps, Hypochromic microcytic anemia, Malnutrition, Gastrointestinal hemorrhage... ORPHA:2494
Abetal34V Amyloidosis
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke ORPHA:324703
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Lymphocytosis, Dyspnea, Elevated hepatic transaminase, Interstitial pneumonit... ORPHA:139402
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 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Bronchiectasis, Abnormally low T cell receptor excision circle level, Neutropenia, Generalized ly... OMIM:618986
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia, Diabetes mellitus, Severe short stature OMIM:202900
Immunodeficiency 51
Folliculitis, Pustule, Cutaneous abscess, Recurrent bronchitis, Chronic oral candidiasis, Recurre... OMIM:613953
Immunodeficiency, Common Variable, 12, With Autoimmunity
Chronic pulmonary obstruction, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent sinusitis, ... OMIM:616576
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Inflammation of the large intestine, Apnea, Chronic gastritis, Dysphagia, Neutropenia, Colitis, D... OMIM:608809
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Hyperactive renin-angiotensin system, Hyponatremia, Increased circulating renin leve... OMIM:177735
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Chronic diarrhea, B-cell lymphoma, Recurrent bronchiolitis, Colit... OMIM:619164
Felty Syndrome
Pleuritis, Pericarditis, Neutropenia, Weight loss, Anemia, Sinusitis, Lymphadenopathy, Pulmonary ... ORPHA:47612
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Cap Polyposis
Abdominal pain, Hematochezia, Constipation, Chronic atrophic gastritis, Weight loss, Colorectal p... ORPHA:160148
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Orthostatic hypotension, Hypotension, Hyponatremia, Increased ci... ORPHA:556030
Whipple Disease
Pleuritis, Pericarditis, Cough, Respiratory insufficiency, Anorexia, Diarrhea, Anemia, Myocarditi... ORPHA:3452
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Hepatomegaly, Diarrhea, Failure to thrive, Splenomegaly, Recurr... OMIM:269840
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Acne, Increased inflammatory response, Myositis, Crohn's disease, Lymphadenopathy, Arthr... ORPHA:69126
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, T lymphocytopenia, Failure to thrive secondary to recurrent i... OMIM:601457
Combined Immunodeficiency Due To Zap70 Deficiency
Skin rash, Lymphocytosis, Recurrent bacterial skin infections, Pneumonia, Abnormality of the lymp... ORPHA:911
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Intracranial hemorrhage, Polydipsia, Epistaxis, Hyperaldosteronism, Hypertension, Abnormal circul... ORPHA:369929
Liddle Syndrome 1
Hypertension, Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone l... OMIM:177200
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Thyroiditis, Generalized lymphadenopathy, Pneumonia, Pancytopenia, Lymphadenopath... OMIM:614700
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer OMIM:135290
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Vasculitis, Severe Epstein Barr virus infection, Neutropenia, Pa... OMIM:308240
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Elevated systolic blood pressure, Hypernatriuria, Hyponatremia, Decreased circulating renin level... OMIM:300539
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Flexion contract... OMIM:203550
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Weight loss, Crohn's dis... OMIM:266600
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Paratracheal lymphadenopathy, Leukopenia, Skeletal muscle atrophy, Anemia, Myositis, T... OMIM:615934
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Interstitial pneumonitis, Recurre... OMIM:615952
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Scrub Typhus
Skin rash, Restrictive ventilatory defect, Dyspnea, Abdominal pain, Hypotension, Cough, Meningiti... ORPHA:83317
Microsporidiosis
Peritonitis, Bronchiolitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pne... ORPHA:2552
Legionnaires Disease
Pericarditis, Cough, Respiratory insufficiency, Anorexia, Jaundice, Diarrhea, Myocarditis, Lympha... ORPHA:549
Familial Hyperaldosteronism Type Ii
Intracranial hemorrhage, Secretory adrenocortical adenoma, Epistaxis, Hypertension, Glucocortocoi... ORPHA:404
Yao Syndrome
Skin rash, Inflammatory abnormality of the skin, Ventricular hypertrophy, Pleuritis, Pericarditis... OMIM:617321
Fusariosis
Peritonitis, Pulmonary opacity, Bronchiectasis, Neutropenia, Pneumonia, Maculopapular exanthema, ... ORPHA:228119
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Abdominal distention, Secretory diarrhea OMIM:616868
Aspergillosis
Pleuritis, Bronchiectasis, Dacryocystitis, Intracranial hemorrhage, Cough, Abnormal esophagus mor... ORPHA:1163
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
American Trypanosomiasis
Skin rash, Arrhythmia, Dyspnea, Abdominal pain, Cough, Aganglionic megacolon, Achalasia, Lymphade... ORPHA:3386
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Hemophagocytosis, Folliculitis, Acne, Colitis, Pancytopenia,... OMIM:300635
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Amelogenesis imperfecta, Carious teeth, Disproportionate short stature, Hyperlordosis,... OMIM:618363
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Atrophic scars, Growth delay, Scarring alopecia of scalp, Oral mucosal blister... ORPHA:79402
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic ... ORPHA:444463
Rat-Bite Fever
Skin rash, Parotitis, Pustule, Endocarditis, Pericarditis, Lymphadenitis, Maculopapular exanthema... ORPHA:31205
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, T lymphocytopenia, Atopic dermatitis, Recurrent bacterial skin inf... ORPHA:217390
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Red-brown urine, Renal tubular epithelial necrosis, Elevated circulating long chain fatty acid co... ORPHA:228302
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Dysdiadochokinesis, Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Increased circula... OMIM:612780
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent upper respira... OMIM:616100
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Dysphagia, Hypodontia, Short stature, Nail dystrophy OMIM:616029
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Neutropenia, Thrombocytopenia, Conjunctivitis, Jaundice, Hepatomegal... OMIM:603552
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Pneumocystosis
Dyspnea, Chronic oral candidiasis, Exertional dyspnea, Interstitial pneumonitis, Parenchymal cons... ORPHA:723
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Elevated hepatic transaminase, Lymphopenia, Flexion contracture, Panniculitis, Thrombo... OMIM:617591
Ectopic Aldosterone-Producing Tumor
Ovarian neoplasm, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldosteronism,... ORPHA:231632
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Systemic Capillary Leak Syndrome
Arrhythmia, Pericarditis, Cardiorespiratory arrest, Hypotension, Pleural effusion, Cough, Leukocy... ORPHA:188
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Abdominal pain, Recurrent pancreatitis, Splenomegaly OMIM:118830
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Orthostatic hypotension, Hypotension, Hyponatremia, Increased ci... ORPHA:556037
Pseudopseudohypoparathyroidism
Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Pseudohypoparathyroidism, Short statu... OMIM:612463
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Agammaglobulinemia, X-Linked
Prostatitis, Epididymitis, Cor pulmonale, Lymph node hypoplasia, Pyoderma, Pneumonia, Septic arth... OMIM:300755
Familial Hypoaldosteronism
Lethargy, Orthostatic hypotension, Hypovolemia, Hypotension, Hyponatremia, Renal salt wasting, In... ORPHA:427
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Widely spaced teeth, Short stature OMIM:616108
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinu... OMIM:240500
Adrenocortical Carcinoma
Abnormality of urine homeostasis, Increased urinary cortisol level, Abnormal circulating dehydroe... ORPHA:1501
Stimmler Syndrome
Abnormal dental enamel morphology, Short stature, Type II diabetes mellitus, Intrauterine growth ... ORPHA:3199
Lichtenstein Syndrome
Osteoporosis, Enamel hypoplasia, Carious teeth, Downturned corners of mouth, Hirsutism, Neutropen... OMIM:246550
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Hyponatremia, Renal salt wasting, Increased circulating renin level, Dehydration, De... OMIM:203400
X-Linked Agammaglobulinemia
Skin rash, Neutropenia, Weight loss, Anemia, Sinusitis, Abnormality of the tonsils, Osteomyelitis... ORPHA:47
Polyarteritis Nodosa
Abnormal lung morphology, Pleuritis, Pericarditis, Abnormality of the gastrointestinal tract, Car... ORPHA:767
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Cough, Malabsorption, Chronic otitis media, Neutropenia, Epicanthus, R... ORPHA:33110
Bare Lymphocyte Syndrome, Type Ii
Recurrent fungal infections, Recurrent upper respiratory tract infections, Viral hepatitis, Villo... OMIM:209920
Factor Xiii, A Subunit, Deficiency Of
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Spontaneous hematomas, Epistaxis, B... OMIM:613225
Linear Iga Dermatosis
Inflammation of the large intestine, Renal neoplasm, Bladder neoplasm, Epistaxis ORPHA:46488
Immune-Mediated Necrotizing Myopathy
EMG: myopathic abnormalities, Skin rash, Scapular winging, Palpitations, Dysphagia, Abnormal pulm... ORPHA:206569
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone level, Hyperten... OMIM:218030
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Recurrent urinary tract infections, Pneumonia, Diarrhea, Sinusitis, Myoca... ORPHA:36234
Kerion Celsi
Recurrent cutaneous abscess formation, Alopecia, Recurrent skin infections, Lymphadenopathy, Infl... ORPHA:499
Scedosporiosis
Arthralgia/arthritis, Pericarditis, Endocarditis, Pleuritis, Pulmonary fibrosis, Decreased pulmon... ORPHA:449280
Agammaglobulinemia 1, Autosomal Recessive
Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Neutropenia, Pneumonia, Sinusitis, C... OMIM:601495
Fryns Macrocephaly
Short philtrum, Everted lower lip vermilion, Wide mouth, Macrodontia of permanent maxillary centr... OMIM:600302
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Premature pubarche, Premature ad... ORPHA:90795
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Cough, Nasal polyposis, Respiratory insufficiency, Weight loss, Sinusitis, Myocarditis... ORPHA:183
Cirrhosis, Familial
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Polymyositis
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Exertional dyspnea, Pulmonary fibrosis, Ab... ORPHA:732
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Adult-Onset Still Disease
Skin rash, Restrictive ventilatory defect, Pleuritis, Pericarditis, Elevated hepatic transaminase... ORPHA:829
Amoebiasis Due To Entamoeba Histolytica
Cough, Weight loss, Diarrhea, Anemia, Bloody diarrhea, Abnormal pericardium morphology, Pleural e... ORPHA:67
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormal mandible condylar process morphology, Macrodontia, Abno... ORPHA:477781
48,Xyyy Syndrome
Enamel hypoplasia, Long philtrum, Male hypogonadism, Azoospermia, Radioulnar synostosis, Short ne... ORPHA:99329
Adenine Phosphoribosyltransferase Deficiency
Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra... ORPHA:976
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Polyhydramnios, Hypernatriuria, Hyponatremia, Polyuria, Increased urinary potassium, Renal salt w... OMIM:613090
Cerebral Cavernous Malformations
Intracranial hemorrhage OMIM:116860
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth, Alopecia OMIM:614564
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Pleuritis, Pericarditis, Erysipelas, Diarrhea, Vomiting, Myositis, Abnorm... ORPHA:32960
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Alpha-Mannosidosis
Open bite, Scoliosis, Macroglossia, Narrow palate, Synostosis of joints, Craniofacial hyperostosi... ORPHA:61
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology, Sparse and thin eyeb... ORPHA:139474
Factor Vii Deficiency
Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia OMIM:227500
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Trichodysplasia, Amelogenesis imperfecta, Alopecia of scalp ORPHA:79129
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology, Increased bone mineral density ORPHA:1653
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
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
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Polyhydramnios, Hydrops fetalis, Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Hyponatre... OMIM:602522
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Hematochezia, Pyoderma, Colitis, Crohn's disease, Perianal abscess, Enterocolitis OMIM:613148
Dens In Dente And Palatal Invaginations
Dens in dente, Abnormality of the dentition OMIM:125300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Proximal amyotrophy, Muscular dystrophy, Flexion contracture, Facial palsy, Myo... OMIM:253600
Dens Evaginatus
Talon cusp, Abnormality of the dentition OMIM:125280
Avian Influenza
Cough, Pneumonia, Diarrhea, Leukopenia, Vomiting, Ground-glass opacification, Respiratory distres... ORPHA:454836
Typhoid
Skin rash, Arrhythmia, Gastrointestinal hemorrhage, Abdominal pain, Constipation, Cough, Epistaxi... ORPHA:99745
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Smooth philtrum, Thin up... OMIM:129540
Mcdonough Syndrome
Open bite, Scoliosis, Short philtrum, Mandibular prognathia, Abnormal palate morphology, Kyphosis... ORPHA:2471
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters, Nail dystrophy ORPHA:79406
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Carious teeth, Atrophic scars, Oral mucosal blisters, Nail dystrophy ORPHA:79405
Eosinophilic Fasciitis
Muscular edema, Weight loss, Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, A... ORPHA:3165
Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome
Enamel hypoplasia, Osteopenia, Recurrent fractures ORPHA:91133
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abdominal pain, Constipation, Respiratory insufficiency, Wei... ORPHA:26790
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Arrhythmia, Lethargy, Hypotension, Ventricular tachycardia, Elevated ... ORPHA:159
Zygomycosis
Peritonitis, Pericarditis, Cough, Neutropenia, Ileitis, Melena, Diarrhea, Sinusitis, Vomiting, My... ORPHA:73263
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Enamel hypoplasia, Carious teeth, Increased connective tissue, Scarring alopecia of scalp, Short ... OMIM:226670
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Aredyld Syndrome
Scoliosis, Abnormal dental enamel morphology, Narrow mouth, Aplasia/Hypoplasia of the eyebrow, Cr... ORPHA:1133
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Abdominal pain, Hematochezia, Weight loss, Diarrhea OMIM:191390
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Minimal chan... OMIM:617006
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Nephrogenic Diabetes Insipidus
Polyhydramnios, Nephrogenic diabetes insipidus, Hyposthenuria, Hydroureter, Hypovolemia, Hypernat... ORPHA:223
Q Fever
Pericarditis, Pericardial effusion, Cough, Abnormal left ventricular function, Pneumonia, Maculop... ORPHA:781
Antisynthetase Syndrome
Skin rash, Pruritus, Aortic regurgitation, Pulmonary fibrosis, Dysphagia, Cough, Respiratory insu... ORPHA:81
Acne Inversa, Familial, 3
Chronic furunculosis, Acne inversa, Recurrent cutaneous abscess formation, Perifolliculitis OMIM:613737
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Amelogenesis imperfecta, Joint laxity, Growth delay, Thrombocytopenia, Failure to t... OMIM:614727
Intermediate Osteopetrosis
Cortical sclerosis, Abnormality of dental morphology, Sandwich appearance of vertebral bodies, Re... ORPHA:210110
Behçet Disease
Pleuritis, Pericarditis, Retrobulbar optic neuritis, Optic neuritis, Anorexia, Weight loss, Pulmo... ORPHA:117
Naegeli-Franceschetti-Jadassohn Syndrome
Dystrophic fingernails, Abnormal dental enamel morphology, Dystrophic toenail ORPHA:69087
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Petechiae, Cerebral hemorrhage, Bruising suscept... ORPHA:3002
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization OMIM:614832
Pediatric Systemic Lupus Erythematosus
Skin rash, Pericardial effusion, Discoid lupus rash, Diarrhea, Leukopenia, Vomiting, Myositis, Ly... ORPHA:93552
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Systemic Lupus Erythematosus
Pleuritis, Pericarditis, Hemolytic anemia, Thrombocytopenia, Lupus nephritis, Malar rash, Leukope... OMIM:152700
Sjogren-Larsson Syndrome
Enamel hypoplasia, Thoracic kyphosis, Short stature OMIM:270200
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
Abeta Amyloidosis, Italian Type
Cerebral hemorrhage, Stroke ORPHA:324713
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Chronic sinusitis, Recurrent vulvovaginal candidiasis, Otitis ... ORPHA:331235
Pulmonary Blastoma
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Weight loss, Hemoptysis, Pulmonary... ORPHA:64741
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Kyphosis, Poliosis, Patchy alopecia, Short mandibular rami, Dental mal... OMIM:141300
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Decreased circulating renin level, Hypokalemia, Pulmonary arterial hypertension, At... OMIM:615474
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Cardiogenic shock, Arrhythmia, Hypovolemia, Hypotension, Hyponatr... ORPHA:31824
Complement Component 4B Deficiency
Meningitis, Chronic active hepatitis OMIM:614379
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth, Neutropenia, Severe short stature, Intrauterine g... ORPHA:2643
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Localized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Abnormality of dental color, Dental enamel pits, Atypical scarring of skin, Sc... ORPHA:251393
Reynolds Syndrome
Skin rash, Pruritus, Cirrhosis, Dysphagia, Gastroesophageal reflux, Respiratory insufficiency, Te... ORPHA:779
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Recurrent sinusit... OMIM:619281
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy OMIM:242530
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy, Arthritis OMIM:617772
5-Oxoprolinase Deficiency
Vomiting, Enterocolitis, Diarrhea, Abdominal pain OMIM:260005
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Sclerotic vertebral body, Metatarsal diaphyseal endost... OMIM:144750
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... OMIM:610921
Agammaglobulinemia 6, Autosomal Recessive
Chronic sinusitis, Recurrent bronchitis, Recurrent otitis media, Conjunctivitis, Diarrhea, Recurr... OMIM:612692
Taurodontism, Microdontia, And Dens Invaginatus
Microdontia, Dens in dente, Pulp calcification, Taurodontia OMIM:313490
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Mandibular prognathia, Kyphosis, Abnormality of the dentition, Short stature, Dental m... ORPHA:1858
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ... ORPHA:169160
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Pericarditis, Pleural effusion, Hepatomegaly, Juvenile rheumatoid arthritis, Anterior ... ORPHA:85414
Hypocomplementemic Urticarial Vasculitis
Skin rash, Pruritus, Pericardial effusion, Cough, Diarrhea, Lymphadenopathy, Abnormal heart valve... ORPHA:36412
Bartter Syndrome, Type 1, Antenatal
Polyhydramnios, Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased urinary potassium, ... OMIM:601678
Liddle Syndrome 2
Decreased circulating renin level, Hypertension, Hypokalemia OMIM:618114
Nocardiosis
Peritonitis, Cutaneous abscess, Pleuritis, Pericarditis, Dacryocystitis, Thyroiditis, Pneumonia, ... ORPHA:31204
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Focal Myositis
Myositis, Weight loss ORPHA:48918
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Pleural effusion, Constrictive pericarditis, Gastrointestinal hemor... OMIM:602248
Immunodeficiency 61
Colon cancer, Recurrent otitis media, Recurrent sinusitis, Obesity, Frequent Giardia lamblia infe... OMIM:300310
Xfe Progeroid Syndrome
Enamel hypoplasia, Scoliosis, Absence of subcutaneous fat, Severe short stature, Cachexia OMIM:610965
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Neutropenia, Severe short stature, Intrauterine growth retardation, Micrognathia OMIM:251190
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Platyspondyly, Oligodontia, Proportionate short stature, Joint contracture of the 5th finger, Irr... OMIM:601668
Epidermolysis Bullosa, Junctional, Herlitz Type
Enamel hypoplasia, Carious teeth, Atrophic scars, Failure to thrive, Nail dystrophy OMIM:226700
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Adrenogenital syndrome, Congenital adrenal hyperplasia, Renal salt wasting OMIM:201710
Majeed Syndrome
Hypochromic microcytic anemia, Pustule, Pulmonary infiltrates, Leukocytosis, Congenital hypoplast... ORPHA:77297
Growth Hormone Insensitivity Syndrome
Delayed eruption of teeth, Abnormality of the mouth, Insulin resistance, Everted lower lip vermil... ORPHA:181393
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infectious pneum... ORPHA:60033
Transient Neonatal Diabetes Mellitus
Macroglossia, Maternal diabetes, Maturity-onset diabetes of the young, Hypothyroidism, Umbilical ... ORPHA:99886
Osteogenesis Imperfecta, Type V
Joint hypermobility, Platyspondyly, Biconcave vertebral bodies, Dentinogenesis imperfecta, Abnorm... OMIM:610967
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Osteolysis, Narrow palate, Gingival... ORPHA:3019
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia, Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myositis, Calf... ORPHA:565899
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroid... OMIM:612462
Cerebral Cavernous Malformations 3
Cerebral hemorrhage OMIM:603285
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Generalized Pseudohypoaldosteronism Type 1
Arrhythmia, Hyponatremia, Increased circulating renin level, Glucocortocoid-insensitive primary h... ORPHA:171876
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Failure to thrive, Decreased response t... OMIM:245590
Auriculocondylar Syndrome 2
Short mandibular rami, Narrow mouth, Ankylosis, Dental crowding, Mandibular condyle aplasia, Clef... OMIM:614669
Yellow Fever
Arrhythmia, Lethargy, Gastrointestinal hemorrhage, Hypotension, Nephropathy, Oliguria, Dehydratio... ORPHA:99829
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Flexion contracture, Panniculitis, Hepatomegaly, Skeletal muscle atr... OMIM:619183
Primary Sclerosing Cholangitis
Thyroiditis, Weight loss, Palmar telangiectasia, Uveitis, Acute hepatic failure, Neoplasm of the ... ORPHA:171
Marburg Hemorrhagic Fever
Skin rash, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Abdominal pain, Subconjunc... ORPHA:99826
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Delayed eruption of teeth, Short philtrum, Platyspondyly, Short stature, Dentinogen... ORPHA:71267
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage, Purpura OMIM:614514
Mannose-Binding Lectin Deficiency
Recurrent herpes, Disseminated cryptosporidium infection, Recurrent Klebsiella infections, Recurr... OMIM:614372
Cerebral Amyloid Angiopathy, App-Related
Recurrent cerebral hemorrhage, Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebra... OMIM:605714
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Chronic diarrhea, Neutropenia, Recurrent... OMIM:616740
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, En... OMIM:616098
Congenital Enterovirus Infection
Skin rash, Respiratory distress, Leukocytosis, Abnormal macrophage morphology, Pericardial effusi... ORPHA:292
Dental Ankylosis
Mandibular prognathia, Abnormal dental enamel morphology, Tooth agenesis ORPHA:1077
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Increased circulating ... ORPHA:90791
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Hepatic failure, Dysphagia, Atherosclerosis, Myocarditis ORPHA:2724
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemia, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Benign Recurrent Intrahepatic Cholestasis
Pruritus, Cirrhosis, Elevated hepatic transaminase, Abdominal pain, Hepatocellular carcinoma, Chr... ORPHA:65682
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color, Yellow-b... ORPHA:1946
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Peripartum Cardiomyopathy
Exertional dyspnea, Abnormal T-wave, Anemia, Myocarditis, Pulmonary arterial hypertension, Abnorm... ORPHA:563
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Nausea and vomiting, Feeding difficulties, Abdominal pain, Neutropenia, Ano... ORPHA:79312
Congenital Pancreatic Cyst
Abdominal pain, Anorexia, Jaundice, Pancreatitis, Vomiting, Abdominal distention ORPHA:313906
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Iridocyclitis, Chronic oral candidiasis, Chronic active hepatitis, Primary adrenal insufficiency,... OMIM:240300
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections, Abnormal hair morphology ORPHA:345
Rift Valley Fever
Abnormal retinal artery morphology, Gastrointestinal hemorrhage, Chemosis, Weight loss, Cholestas... ORPHA:319251
Maxillonasal Dysplasia, Binder Type
Patchy distortion of vertebrae, Dental malocclusion, Vertebral clefting OMIM:155050
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Prostatitis, Epididymitis, Recurrent bacterial infections, Recurrent otitis media, Pyoderma, Pneu... OMIM:307200
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Hypoproteinemia, Arrhythmia, Gastrointestinal hemorrhage, Intra... ORPHA:340
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yel... OMIM:618386
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown... OMIM:204650
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Small for gestational age, Micrognathia, Low posterior hairline, Thoracic scolio... ORPHA:2959
Shaheen Syndrome
Enamel hypoplasia, Carious teeth OMIM:615328
Microscopic Polyangiitis
Peritonitis, Skin rash, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Increased inflamma... ORPHA:727
Dermatitis, Atopic
Keratoconus, Pruritus, Allergic rhinitis, Atopic dermatitis, Conjunctivitis, Cataract, Asthma, Ec... OMIM:603165
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Non-Hodgkin lymphoma, Neoplasm of the rectum, Endometrial carcinoma, Mening... ORPHA:454840
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Elevated hepatic transaminase, Recurrent upper and lower respiratory tract infections,... ORPHA:331206
Autoinflammatory Syndrome, Familial, Behcet-Like
Skin rash, Hemolytic anemia, Lymphopenia, Ileal ulcer, Colitis, Thrombocytopenia, Anterior uveitis OMIM:616744
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Scoliosis, Carious teeth, Delayed eruptio... OMIM:265800
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... ORPHA:567544
Whim Syndrome
Severe periodontitis, Recurrent pneumonia, Respiratory tract infection, Bronchiectasis, Recurrent... ORPHA:51636
Brucellosis
Pericarditis, Pneumonia, Weight loss, Small for gestational age, Anterior uveitis, Myocarditis, H... ORPHA:1304
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Glanzmann Thrombasthenia 1
Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis... OMIM:273800
Bartter Syndrome, Type 2, Antenatal
Polyhydramnios, Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased urinary potassium, ... OMIM:241200
Rheumatic Fever
Arrhythmia, Endocarditis, Pericarditis, Abnormal mitral valve morphology, Abnormal heart valve mo... ORPHA:3099
Idiopathic Achalasia
Wheezing, Malnutrition, Dysphagia, Cough, Gastroesophageal reflux, Weight loss, Bronchitis, Recur... ORPHA:930
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Megaloblastic anemia, Abnormal erythrocyte morphology, Wide nasal bridge, Folate-unresponsive meg... ORPHA:2575
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, Mandibular prognathia, Kyphoscoliosis, High palate, Malar flattening OMIM:600991
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of dental color, Abnorm... ORPHA:1028
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Moderately short stature, Delayed eruption of teeth, Camptodactyly of finger, Cigarette-paper sca... OMIM:612350
Atkin-Flaitz Syndrome
Scoliosis, Joint laxity, Kyphosis, Tall stature, Maxillary lateral incisor microdontia, Short sta... OMIM:300431
Rubinstein-Taybi Syndrome 2
Carious teeth, Narrow palate, Hirsutism, Long eyelashes, Retrognathia, Increased overbite, High p... OMIM:613684
Gitelman Syndrome
Palpitations, Hypocalciuria, Hypotension, Nocturia, Renal potassium wasting, Polyuria, Enuresis, ... OMIM:263800
Amelogenesis Imperfecta, Type If
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color OMIM:616270
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Arthritis, Sterile abscess... OMIM:604416
Acute Adrenal Insufficiency
Androgen insufficiency, Adrenal hypoplasia, Orthostatic hypotension, Hypovolemia, Hypotension, Pr... ORPHA:95409
Osteopetrosis With Renal Tubular Acidosis
Carious teeth, Abnormality of dental morphology, Mandibular prognathia, Recurrent fractures, Oste... ORPHA:2785
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Elevated hepatic transaminase, Pancreatitis, Obesity OMIM:616394
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Juvenile Nephropathic Cystinosis
Hypocalcemia, Elevated circulating creatinine concentration, Abnormal urine potassium concentrati... ORPHA:411634
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Perioral eczema, Colitis, Diarrhea, Recurrent aphthous stomatitis OMIM:613960
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Pseudohypoparathyroidism, Hypothyroid... OMIM:103580
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Scleroderma
Hypohidrosis, Pericarditis, Abnormality of the small intestine, Myocarditis, Pulmonary arterial h... ORPHA:801
Abeta Amyloidosis, Iowa Type
Cerebral hemorrhage, Abnormal cerebral vascular morphology, Stroke ORPHA:324708
Clark-Baraitser syndrome
Scoliosis, Joint laxity, Kyphosis, Tall stature, Maxillary lateral incisor microdontia, Exaggerat... OMIM:300602
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Arthrogryposis multiplex congenita, Dysphagia, Mandibular prognathia, High palate, Dental maloccl... OMIM:608931
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Cerebellofaciodental Syndrome
Scoliosis, Sparse hair, Taurodontia, Macrodontia of permanent maxillary central incisor, Sparse a... OMIM:616202
Congenital Factor V Deficiency
Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Gastrointes... ORPHA:326
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Recurrent upper respiratory tract infections, Recurrent sinusitis, Colitis, Abn... OMIM:613101
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Abnormal heart morphology, Recurrent infections, Failure to thrive, Recurre... OMIM:617744
Isolated Agammaglobulinemia
Skin rash, Abnormality of neutrophils, Abnormal lymphocyte morphology, Malabsorption, Pneumonia, ... ORPHA:229717
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Skeletal muscle atrophy, Myositis... OMIM:615422
Mulibrey Nanism
Enamel hypoplasia, Dental crowding, Hypoplastic frontal sinuses, Growth delay, Hypodontia, Microg... OMIM:253250
Short Syndrome
Delayed eruption of teeth, Joint laxity, Downturned corners of mouth, Glucose intolerance, Hyperg... OMIM:269880
Immunodeficiency 60
Bronchiectasis, Pulmonary fibrosis, Decreased proportion of memory B cells, Decreased basophil co... OMIM:618394
Halothane Hepatitis
Viral hepatitis, Jaundice, Hepatitis, Eosinophilia OMIM:234350
Idiopathic Congenital Hypothyroidism
Lethargy, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone concen... ORPHA:95717
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Eczematoid dermatitis, Lymphadenitis, Recurrent bacterial skin infections, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Eczematoid dermatitis, Lymphadenitis, Recurrent bacterial skin infections, Impaired oxidative bur... OMIM:233710
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Hematochezia, Abdominal pain, Rectal prolapse, Duodenal... OMIM:174900
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Vasculitis in the skin, Salmonella osteomyelitis, Pneumonia ORPHA:319552
Syndromic Diarrhea
Patent ductus arteriosus, Peripheral pulmonary artery stenosis, Small for gestational age, Depend... ORPHA:84064
Immunodeficiency 70
Furuncle, Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, Achalasia, Co... OMIM:618969
Benign Cephalic Histiocytosis
Histiocytosis, Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Neutropenia in presence... ORPHA:231154
Immunodeficiency 27A
Thrombocytosis, Pulmonary infiltrates, Increased inflammatory response, Leukocytosis, Salmonella ... OMIM:209950
Myasthenia Gravis
Pure red cell aplasia, Hemolytic anemia, Dyspnea, Dysphagia, Rheumatoid arthritis, Primary adrena... ORPHA:589
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia, Vein of Galen aneurysmal malformation OMIM:618196
Systemic Lupus Erythematosus, Susceptibility To, 6
Malar rash, Pleuritis, Pericarditis, Arthritis OMIM:609939
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Decreased calvarial ossification, Kyphosis, Recurrent fractures, Multip... OMIM:259440
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Skin rash, Elevated hepatic transaminase, Erythroderma, Neutropenia, Maculopapu... ORPHA:540
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Persistence of hemoglobin F, Respiratory distress, Elevated he... OMIM:260400
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis ORPHA:88643
Granulomatous Disease, Chronic, X-Linked
Eczematoid dermatitis, Lymphadenitis, Recurrent bacterial skin infections, Impaired oxidative bur... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Eczematoid dermatitis, Lymphadenitis, Recurrent bacterial skin infections, Impaired oxidative bur... OMIM:233690
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Dental crowding, Abnormality of the dentition, Umbilical hernia, Sacral dimple, Th... OMIM:616331
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Recurrent otitis media, Recurrent urinary tract infections, Hepatome... OMIM:618495
Thymic Tumor
Dyspnea, Pericarditis, Dysphagia, Cough, Neoplasm of the thymus, Cardiac arrest, Mediastinal lymp... ORPHA:100100
Cyanosis And Hepatic Disease
Hepatitis, Dyspnea OMIM:219400
Reversible Cerebral Vasoconstriction Syndrome
Abnormal bleeding, Ischemic stroke, Intraventricular hemorrhage, Subarachnoid hemorrhage, Subdura... ORPHA:284388
Hypocalcemia, Autosomal Dominant 1
Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Hypok... OMIM:601198
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Goiter, Lethargy, Decreased circulating T4 level, Elevated c... ORPHA:95716
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia, Arthritis ORPHA:139436
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent sinusitis, Increased circulating lactate dehydrogenase concentr... OMIM:604173
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Hirschsprung Disease, Susceptibility To, 1
Constipation, Aganglionic megacolon, Abnormality of enteric ganglion morphology, Vomiting, Entero... OMIM:142623
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Ptosis, Recurrent infections, Failure to thrive, Dil... OMIM:615895
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular necrosis, Abnormality of ... OMIM:231100
Cryptosporidiosis
Wheezing, Decreased proportion of CD4-positive helper T cells, Cough, Abnormal esophagus morpholo... ORPHA:1549
Wilson Disease
Acute hepatitis, Pruritus, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hep... ORPHA:905
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Erythroderma, Villous atrophy, Chr... OMIM:304790
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Joint stiffness, Short stature OMIM:261560
Familial Cervical Artery Dissection
Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, Stroke, Dilatation of the c... ORPHA:36382
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, Septic arthritis, B lymphoc... OMIM:612260
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... ORPHA:327
Listeriosis
Peritonitis, Pericarditis, Pneumonia, Jaundice, Diarrhea, Myocarditis, Vomiting, Hepatic granulom... ORPHA:533
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis... ORPHA:3261
Giant Cell Arteritis
Arrhythmia, Recurrent pharyngitis, Pericarditis, Glossitis, Gastrointestinal infarctions, Aortic ... ORPHA:397
Juvenile Dermatomyositis
Skin rash, Pruritus, Pericarditis, Cough, Weight loss, Myositis, Cardiomyopathy, Bundle branch bl... ORPHA:93672
+173470 integrin, beta-3
Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis, Meno... OMIM:173470
Sweet Syndrome
Inflammation of the large intestine, Pustule, Small vessel vasculitis, Leukocytosis, Chronic lymp... ORPHA:3243
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hypoplasia of teeth, Narrow mouth, Dental crowding, High palate, Micrognathia, Generalized lipody... OMIM:608612
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Platyspondyly, Mandibular prognathia, Herniation of interve... OMIM:601216
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Congestive heart failure, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Immunodeficiency 15A
Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B... OMIM:618204
Pyle Disease
Scoliosis, Delayed eruption of teeth, Carious teeth, Limited elbow extension, Platyspondyly, Mand... OMIM:265900
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Chronic diarrhea, Elevated circulating alanine aminotransfe... OMIM:618805
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Corneal opacity, Pancytopenia, Anemia, Pulmonary arterial hypertension, Pulmonary fibrosis, Throm... ORPHA:2072
Shigellosis
Peritonitis, Pneumonia, Failure to thrive in infancy, Anorexia, Hypovolemic shock, Myocarditis, V... ORPHA:810
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Hyperactive renin-angiotensin system, Hyponatremia, Hyperaldosteronism, Dehydrati... OMIM:214700
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Carious teeth, Sparse lateral eyebrow, Thick vermilion border ORPHA:363523
Juvenile Temporal Arteritis
Leukocytosis, Conjunctivitis, Allergic rhinitis, Eosinophilia ORPHA:26137
Granulomatosis With Polyangiitis
Skin rash, Pleuritis, Pericarditis, Cough, Respiratory insufficiency, Weight loss, Cerebral ische... ORPHA:900
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinine concentr... ORPHA:79233
Igg4-Related Kidney Disease
Abnormality of mesentery morphology, Pleuritis, Pericarditis, Interstitial pneumonitis, Urinary b... ORPHA:449395
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Elevated circulating creatinine conce... ORPHA:97292
Mucopolysaccharidosis Type 4
Scoliosis, Hyperlordosis, Carious teeth, Abnormal dental enamel morphology, Platyspondyly, Joint ... ORPHA:582
Squamous Cell Carcinoma Of The Anal Canal
Intestinal bleeding, Anal stenosis, Neoplasm of the rectum, Abdominal pain, Neoplasm of the liver... ORPHA:424019
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Thyroiditis, Diarrhea, Patent foramen ovale, Eczema, Pulmonary arterial hypertens... ORPHA:391487
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Carious teeth, Flexion contracture, Central adrenal insufficiency, Hypodontia, Adrenal insufficie... OMIM:612079
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Adenocarcinoma of the colon, Pure red cell aplasia, ... ORPHA:124
Lassa Fever
Skin rash, Cardiorespiratory arrest, Gastrointestinal hemorrhage, Chemosis, Palpebral edema, Pleu... ORPHA:99824
Malignant Atrophic Papulosis
Peritonitis, Intestinal perforation, Ischemic stroke, Arteritis, Gastrointestinal hemorrhage, Gas... ORPHA:679
Muckle-Wells Syndrome
Camptodactyly of finger, Skin rash, Restrictive ventilatory defect, Abdominal pain, Uveitis, Hepa... ORPHA:575
Cockayne Syndrome Type 2
Enamel hypoplasia, Scoliosis, Delayed eruption of primary teeth, Male hypogonadism, Hypoplasia of... ORPHA:90322
Pyoderma Gangrenosum
Myeloid leukemia, Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis ORPHA:48104
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Enterocutaneous fistula, Rectovaginal fistula, Perianal abscess, Enterocolitis OMIM:612567
Bartter Syndrome, Type 5, Antenatal, Transient
Polyhydramnios, Hyponatremia, Polyuria, Increased circulating renin level, Hypochloremia, Hyperca... OMIM:300971
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Drug-Induced Lupus Erythematosus
Dyspnea, Pericarditis, Pericardial effusion, Thrombocytopenia, Malar rash, Anemia, Serositis, Pro... ORPHA:231111
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Arteritis, Leukocytosis, Stomatitis, Wide nasal bridge, Thrombocytopenia, Hep... OMIM:233600
Dyskeratosis Congenita, Autosomal Dominant 1
Oral leukoplakia, Cirrhosis, Sparse hair, Premature graying of hair, Pulmonary fibrosis, Intersti... OMIM:127550
Systemic Sclerosis
Hypohidrosis, Pericarditis, Abnormality of the small intestine, Abnormal esophagus morphology, My... ORPHA:90291
Crome Syndrome
Renal tubular epithelial necrosis OMIM:218900
Primary Sjögren Syndrome
Thyroiditis, Decreased proportion of CD4-positive helper T cells, Optic neuritis, Xerostomia, Chr... ORPHA:289390
Gm1 Gangliosidosis
Hirsutism, Patent ductus arteriosus, Corneal opacity, Weight loss, Cardiomyopathy, Depressed nasa... ORPHA:354
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Abnormal urine potassium concentration, Delayed puberty, Dehydration, Decreased c... ORPHA:289548
Mandibuloacral Dysplasia
Abnormal tongue morphology, Hypoplasia of teeth, Dental crowding, Postnatal growth retardation, H... ORPHA:2457
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Recurrent opportunistic infections, Recurrent upper respirator... ORPHA:277
Melioidosis
Lung abscess, Prostatitis, Respiratory tract infection, Cutaneous abscess, Unusual skin infection... ORPHA:31202
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Coarse hair, Absent facial hair, Sparse scalp hair, Sparse and thin eyebrow, P... OMIM:613573
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Delayed eruption of teeth, Carious teeth, Rickets, Growth delay, Recurrent fra... OMIM:277440
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting OMIM:613743
Myositis
Myositis OMIM:160750
Familial Mediterranean Fever
Peritonitis, Skin rash, Pleuritis, Pericarditis, Erysipelas, Diarrhea, Osteoarthritis, Lymphadeno... ORPHA:342
Amoebiasis Due To Free-Living Amoebae
Pustule, Increased red blood cell count, Respiratory tract infection, Arrhythmia, Unusual skin in... ORPHA:68
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion, Sparse hair OMIM:613576
Tubular Renal Disease-Cardiomyopathy Syndrome
Hypocalcemia, Dilated cardiomyopathy, Abnormal renal resorption, Pericardial effusion, Hypocalcem... ORPHA:73224
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Decreased liver function, Myocarditis, Increased B ce... ORPHA:2442
Gitelman Syndrome
Hypocalcemia, Hypermagnesemia, Nocturia, Primary hyperaldosteronism, Pericardial effusion, Delaye... ORPHA:358
Cohen Syndrome
Joint hypermobility, Short philtrum, Open mouth, Decreased response to growth hormone stimuation ... OMIM:216550
Oculocerebrodental Syndrome
Enamel hypoplasia, Scoliosis, Oligodontia, Hyperlordosis, Thoracic kyphosis, Abnormality of the d... ORPHA:557003
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Abnormal urine potassium concentration, Delayed puberty, Dehydration, Decreased c... ORPHA:168558
Cleft Lip/Palate
Abnormal number of permanent teeth, Agenesis of lateral incisor, Oral-pharyngeal dysphagia, Oral ... ORPHA:199306
Alopecia Antibody Deficiency
Abnormality of dental color, Sparse hair, Abnormal eyelash morphology, Short stature, Aplasia/Hyp... ORPHA:1006
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Cellulitis, Oral ulcer, Periodontitis, Lymphopenia, Leukemia, Neutropenia, Gingiviti... ORPHA:486
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hypoplasia of teeth, Dental crowding, Impaired glucose tolerance, Postnatal growth retardation, I... OMIM:248370
Trichohepatoenteric Syndrome 2
Cirrhosis, Sparse hair, Villous atrophy, Uncombable hair, Colitis, Hepatomegaly, Hepatitis, Diarr... OMIM:614602
Jalili Syndrome
Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of dental color ORPHA:1873
Mucopolysaccharidosis, Type Iva
Osteoporosis, Scoliosis, Carious teeth, Hyperlordosis, Platyspondyly, Joint laxity, Mandibular pr... OMIM:253000
Intellectual Disability, Birk-Barel Type
Highly arched eyebrow, Short philtrum, Open mouth, Broad philtrum, Congenital finger flexion cont... ORPHA:166108
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Autoimmune thrombocytopenia, Rheumatoid arthritis, Biliary cirrhosis, Chronic atro... ORPHA:227990
Pericardial Effusion, Chronic
Polycythemia, Retinal arteriolar tortuosity, Constrictive pericarditis, Pericardial effusion OMIM:260900
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Scoliosis, Oligodontia, Hypoplasia of teeth, Narrow mouth, Downturned corners of mouth, Joint lax... ORPHA:391408
Acrootoocular Syndrome
Delayed eruption of teeth, Choking episodes, Dental malocclusion, Grayish enamel, Anodontia, Smal... ORPHA:2980
Cystinosis
Hypophosphatemia, Nephrogenic diabetes insipidus, Hypothyroidism, Gait disturbance, Aminoaciduria... ORPHA:213
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Abnormality of the dentition, Thick vermilion border, Maxillary late... ORPHA:1193
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Griscelli Syndrome
Iris hypopigmentation, Abnormal eyebrow morphology, Premature graying of hair, Abnormality of neu... ORPHA:381
Liddle Syndrome
Arrhythmia, Hypertension, Nephropathy, Hypokalemia, Cerebral ischemia, Renal insufficiency ORPHA:526
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis, Lymphocytic interstitial pneumonia OMIM:247610
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Mucopolysaccharidosis, Type Ivb
Osteoporosis, Scoliosis, Carious teeth, Hyperlordosis, Platyspondyly, Joint laxity, Mandibular pr... OMIM:253010
Nipah Virus Disease
Respiratory distress, Hypotension, Cough, Anorexia, Encephalitis, Nausea and vomiting, Recurrent ... ORPHA:99825
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Encephalitis OMIM:616532
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts OMIM:609886
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth, Increased bone density with cystic changes, Pseudoh... ORPHA:94089
Chylous Ascites
Abnormal intestine morphology, Pancreatitis ORPHA:1160
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Recurrent gastroenteritis, Autoimmune hemolytic ane... OMIM:615607
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Pathologic fracture, Short stature, Dentinogenesis imperfecta,... ORPHA:166277
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Hyperactivity, Bradycardia, Attention deficit hyperactivity diso... OMIM:617182
Autoimmune Polyendocrinopathy Type 3
Graves disease, Iridocyclitis, Autoimmune thrombocytopenia, Rheumatoid arthritis, Biliary cirrhos... ORPHA:227982
Potocki-Lupski Syndrome
Scoliosis, Dental crowding, Hypothyroidism, Mandibular prognathia, Wide mouth, Smooth philtrum, O... OMIM:610883
Idiopathic Hypereosinophilic Syndrome
Pruritus, Intracranial hemorrhage, Cough, Vasculitis in the skin, Generalized lymphadenopathy, Ch... ORPHA:3260
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Shagreen patch, Abnormal eyebrow morphology, Hypodontia, Delayed puber... ORPHA:1816
Pseudo-Torch Syndrome 3
Apnea, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Hypertension, Respiratory insuff... OMIM:618886
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatomegaly, Jaundice, Hepatitis, Hepatic failure ORPHA:60
Heimler Syndrome 1
Enamel hypoplasia, Amelogenesis imperfecta, Leukonychia OMIM:234580
Relapsing Polychondritis
Chondritis of pinna, Pericarditis, Abnormal endocardium morphology, Cough, Myocarditis, Uveitis, ... ORPHA:728
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Arthritis OMIM:208250
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Narrow palate, Anodontia, Kyphoscoliosis, Failure to thrive, Supernume... OMIM:264475
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Prolonged prothrombin time, Intracranial he... ORPHA:325
Factor X Deficiency
Joint hemorrhage, Intracranial hemorrhage, Epistaxis, Menorrhagia, Gingival bleeding, Prolonged p... OMIM:227600
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Ulcerative colitis, Interstitial pneumonitis OMIM:614878
Trichoodontoonychial Dysplasia With Bone Deficiency
Enamel hypoplasia, Sparse hair, Anodontia, Supernumerary nipple, Nail dystrophy OMIM:275450
Mitochondrial Complex I Deficiency, Nuclear Type 8
Dysphagia, Pancreatitis, Respiratory insufficiency OMIM:618230
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Decreased proportion of CD4-positive helper T cells, Recurrent bacterial skin infectio... ORPHA:276
48,Xxyy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Infertili... ORPHA:10
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental color, Abnormality of dental morphology, Hypophosphatemic rickets, Growth d... OMIM:163200
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Taurodontia, Abnormal hair quantity, Periapical tooth abscess, Agenesis of in... ORPHA:3352
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Skin rash, Failure to thrive in infancy, Splenomegaly OMIM:619175
Gastrointestinal Stromal Tumor
Skin rash, Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Gastrointestina... ORPHA:44890
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Delayed eruption of teeth, Scoliosis, Narrow mouth, Generalized osteoporosis, Short... OMIM:613849
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Anorexia, Adrenal... OMIM:619386
Autoinflammation With Infantile Enterocolitis
Skin rash, Villous atrophy, Diffuse alveolar hemorrhage, Pancytopenia, Thrombocytopenia, Splenome... OMIM:616050
Infantile Bartter Syndrome With Sensorineural Deafness
Polyhydramnios, Impaired renal concentrating ability, Acute kidney injury, Hyponatremia, Hyperact... ORPHA:89938
Cushing Disease
Premature ovarian insufficiency, Lethargy, Hypertension, Telangiectasia of the skin, Hypokalemia,... ORPHA:96253
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Amelogenesis imperfecta, Joint hypermobility, Sparse hair, Aplasia/Hypoplasia ... OMIM:617052
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Steatorrhea, Hepatomegaly, Ja... OMIM:613812
Celiac Disease, Susceptibility To, 1
Osteoporosis, Enamel hypoplasia, Infertility, Iron deficiency anemia, Thrombocytosis, Rickets, Th... OMIM:212750
Colorectal Cancer
Renal cell carcinoma, Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma, Tran... OMIM:114500
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Carious teeth, Narrow palate, Leukonychia, Ivory epiphyses of the distal phalanges of ... OMIM:190350
Kikuchi-Fujimoto Disease
Skin rash, Lymphocytosis, Vasculitis in the skin, Generalized lymphadenopathy, Neutropenia,