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
Aneurysm, Intracranial Berry, 12
Fusiform cerebral aneurysm, Arterial fibromuscular dysplasia, Cerebral berry aneurysm, Subarachno... OMIM:618734
Moyamoya Disease 2
Transient ischemic attack, Moyamoya phenomenon OMIM:607151
Internal Carotid Absence
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia ORPHA:981
Aneurysm, Intracranial Berry, 3
Cerebral berry aneurysm OMIM:609122
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Decreased circulating renin level, Hypokalemia, Hypertension, Adrenal hyperpl... OMIM:613677
Hypouricemia, Renal, 1
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... OMIM:220150
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Diarrhea, Bronchiectasis, Perianal abscess, T lymphocytopenia,... OMIM:618108
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Adenocarcinoma of the colon, Large intestinal polyposis, Desmoid tumors, Re... ORPHA:247798
Cerebral Cavernous Malformations 2
Cerebral cavernous malformation, Stroke, Telangiectasia, Cerebral hemorrhage OMIM:603284
Hereditary Mixed Polyposis Syndrome
Juvenile colonic polyposis, Colorectal polyposis, Neoplasm of the gastrointestinal tract, Adenoca... ORPHA:157794
Primary Unilateral Adrenal Hyperplasia
Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hypokal... ORPHA:231580
Cerebral Amyloid Angiopathy, Cst3-Related
Stroke, Intracranial hemorrhage, Cerebral hemorrhage OMIM:105150
Regional Odontodysplasia
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... ORPHA:83450
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level, Hypertension, Adre... OMIM:103900
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Fibroma, Neoplasm of the stomach, Colorectal polyposis, Astrocytoma, Adenocar... ORPHA:220460
Adenocarcinoma Of The Anal Canal
Abdominal pain, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal ad... ORPHA:424016
Polymerase Proofreading-Related Adenomatous Polyposis
Breast carcinoma, Colorectal polyposis, Adenocarcinoma of the colon, Neoplasm of the rectum, Brai... ORPHA:447877
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Vomiting, Pancolitis, Abdominal pain, Ileitis, Abnormal intestine morphology, Ga... OMIM:619079
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir... ORPHA:320
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Elevated circulating creatinine c... OMIM:161900
Circumvallate Placenta Syndrome
Intracranial hemorrhage OMIM:215550
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Glucocortocoid-insensitive primary hyperaldosteronism, Increased circulating cor... ORPHA:231625
Familial Hyperaldosteronism Type Iii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Hypertension, Adrenal hyperpl... ORPHA:251274
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620125
Ficolin 3 Deficiency
Necrotizing enterocolitis, Recurrent lower respiratory tract infections, Verrucae OMIM:613860
Familial Hyperaldosteronism Type I
Hypokalemia, Hypertension, Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocorti... ORPHA:403
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Micrognathia, Tooth agenesis, Amelogenesis imperfecta, Cle... OMIM:618363
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level OMIM:619406
Pfapa Syndrome
Weight loss, Malabsorption, Arthritis, Recurrent pharyngitis, Lymphadenopathy, Hepatomegaly, Infe... ORPHA:42642
Dentin Dysplasia, Type I
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... OMIM:125400
Mismatch Repair Cancer Syndrome 1
Lymphoma, Medulloblastoma, Adenocarcinoma of the small intestine, Astrocytoma, Adenocarcinoma of ... OMIM:276300
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Stomach cancer, Breast carcinoma, Adenocarcinoma of the small intestin... ORPHA:79501
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Cerebral hemorrhage OMIM:603285
Periodic Fever, Familial, Autosomal Dominant
Conjunctivitis, Oligoarthritis, Conjunctival hyperemia, Vomiting, Skin rash, Chronic constipation... OMIM:142680
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hypotension, Hyperaldosteronism, Pseudohypoaldosteronism, Hyperkalemia, Renal salt wasting, Hypon... OMIM:264350
Immunodeficiency 104
Gastroesophageal reflux, Recurrent opportunistic infections, Diarrhea, T lymphocytopenia, Eczema,... OMIM:608971
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Elevated fecal sodium, Secretory diarrhea, Abdominal distention OMIM:616868
Mixed Connective Tissue Disease
Keratoconjunctivitis sicca, Pericarditis, Myositis, Gastritis, Meningitis, Hepatomegaly, Splenome... ORPHA:809
Amelogenesis Imperfecta
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... ORPHA:88661
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Hyperkalemia, Increased circulating renin level, Renal s... OMIM:610600
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Irregular vertebral endplates, Kyphosis, Thick lower lip vermilion, Intrauteri... OMIM:234250
Cap Polyposis
Atrophic gastritis, Colorectal polyposis, Diarrhea, Weight loss, Abdominal pain, Abdominal disten... ORPHA:160148
Immunodeficiency 101 (Varicella Zoster Virus-Specific)
Cerebral vasculitis OMIM:619872
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypothyroidism, Crusting erythematous dermatitis, Cachexia, Elevated hepatic transaminase, Eczema... ORPHA:37042
Neuroendocrine Neoplasm Of Appendix
Hypotension, Palpitations, Appendiceal mucinous neoplasm, Adenocarcinoma of the colon, Asthma, Ab... ORPHA:100079
Cerebral Cavernous Malformations
Intracranial hemorrhage, Cerebral cavernous malformation OMIM:116860
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Bloody diarrhea, Ulcerative colitis, 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
Immunodeficiency, Common Variable, 11
Crohn's disease, Inflammation of the large intestine, Failure to thrive, Decreased proportion of ... OMIM:615767
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Elevated systolic ... OMIM:300539
Brain abscess, Inflammatory abnormality of the eye, Pleural effusion, Meningitis, Cervical lympha... ORPHA:3392
Graft Versus Host Disease
Diarrhea, Inflammatory abnormality of the eye, Fasciitis, Elevated hepatic transaminase, Hepatosp... ORPHA:39812
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite OMIM:617297
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent respiratory infections... OMIM:613953
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Colitis, Chronic diarrhea... OMIM:619164
Immunodeficiency, Common Variable, 8, With Autoimmunity
Hypothyroidism, Bronchiectasis, Recurrent sinusitis, Generalized lymphadenopathy, Chronic diarrhe... OMIM:614700
Abetal34V Amyloidosis
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324703
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Stomach cancer, Vomiting, Diarrhea, ... ORPHA:2494
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level OMIM:605115
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Crohn's disease, Perianal abscess, Hemolytic anemia, Granuloma, Ulcerative colitis... OMIM:618935
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Hyperaldosteronism, Hypokalemia, Intracranial hemorrhage, Adrena... ORPHA:369929
Dentinogenesis Imperfecta
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Finger joint hypermobil... ORPHA:49042
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Bronchiectasis, Recurrent sinusitis, Recurrent sinopulmonary infections, Chro... OMIM:616576
Bartter Syndrome, Type 3
Hypotension, Hyperaldosteronism, Hypokalemia, Renal salt wasting, Increased circulating renin lev... OMIM:607364
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... ORPHA:83451
Felty Syndrome
Pericarditis, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Abnormal... ORPHA:47612
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Hepatosplenomegaly, Eosinophilia, Chronic diarrhea, Colitis, Pneu... ORPHA:911
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia OMIM:620126
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Impaired neutrophil chemotaxis, Recurrent ... OMIM:618986
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hypotension, Hyperaldosteronism, Pseudohypoaldosteronism, Hyperkalemia, Increased circulating ren... OMIM:177735
Familial Hyperaldosteronism Type Ii
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Hypertension, Abnormal circul... ORPHA:404
Ectopic Aldosterone-Producing Tumor
Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hypokal... ORPHA:231632
Immunodeficiency 40
Respiratory tract infection, Rectal fistula, Elevated circulating alanine aminotransferase concen... OMIM:616433
Early-Onset Familial Hypoaldosteronism
Hypotension, Decreased circulating aldosterone level, Abnormal circulating corticosterone level, ... ORPHA:556030
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Crohn's disease, Diarrhea, Bronchiectasis, Arthritis, Eczema, Lymphocytic inf... OMIM:616100
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Arthritis, Myositis, Pustule, Lymphadenopathy, Increased inflammatory response, ... ORPHA:69126
Inflammatory Bowel Disease (Crohn Disease) 1
Recurrent aphthous stomatitis, Crohn's disease, Diarrhea, Weight loss, Abdominal pain, Ulcerative... OMIM:266600
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Weight loss, Hepatitis, Cardiac arrest, Thyroiditis, Skin rash, Int... ORPHA:139402
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... ORPHA:75566
Liddle Syndrome 1
Decreased circulating aldosterone level, Decreased circulating renin level, Hypokalemia, Hyperten... OMIM:177200
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Alopecia, Flexion contracture, Thoracic kyphoscoliosis, Severe short stature, Generalized hypopla... OMIM:203550
Whipple Disease
Respiratory insufficiency, Hypothyroidism, Anemia, Hypotension, Diarrhea, Malabsorption, Arthriti... ORPHA:3452
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Stage 5 chronic k... ORPHA:228302
Chronic Beryllium Disease
Respiratory insufficiency, Weight loss, Reticulonodular pattern on pulmonary HRCT, Abnormal respi... ORPHA:133
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hypothyroidism, Achalasia, Desquamative interstitial pneumonitis, Interstitial pneumonitis, Neutr... OMIM:615952
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Lymphoproliferative Syndrome, X-Linked, 2
Erythema nodosum, Hepatitis, Folliculitis, Pancytopenia, Inflammation of the large intestine, Col... OMIM:300635
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Sparse hair, Malar rash, Skin rash, Follicular hyperplasia, Recurrent infections, Recur... OMIM:615934
Immunodeficiency, Common Variable, 2
Conjunctivitis, Diarrhea, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent ot... OMIM:240500
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Enamel hypoplasia, Anemia, Atrophic scars, Scarring alopecia of scalp, Oral muc... ORPHA:79402
48,Xyyy Syndrome
Primary gonadal insufficiency, Enamel hypoplasia, High palate, Long philtrum, Thick lower lip ver... ORPHA:99329
East Syndrome
Hyperaldosteronism, Renal sodium wasting, Hypokalemia, Renal salt wasting, Increased circulating ... ORPHA:199343
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hyperaldosteronism, Renal sodium wasting, Hypokalemia, Renal salt wasting, Increased circulating ... OMIM:612780
Systemic Capillary Leak Syndrome
Hypotension, Diarrhea, Pulmonary edema, Weight loss, Pericarditis, Pleural effusion, Cardiorespir... ORPHA:188
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Anemia, Skin rash, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thr... OMIM:603552
Yao Syndrome
Ventricular hypertrophy, Diarrhea, Weight loss, Inflammatory abnormality of the skin, Asthma, Art... OMIM:617321
Proteasome-Associated Autoinflammatory Syndrome 3
Conjunctivitis, Anemia, Flexion contracture, Skin rash, Arthritis, Elevated hepatic transaminase,... OMIM:617591
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Meningitis, Abnormality of the tonsils, Chronic diarrhea, ... ORPHA:47
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Hemolytic anemia, Hepatitis, Recurrent otitis media, Lymphopenia, Au... ORPHA:444463
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta OMIM:104530
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Atopic dermatitis, T lymphocytopenia, Squamous cell carcinom... ORPHA:217390
Stimmler Syndrome
Short stature, Microdontia, Type II diabetes mellitus, Intrauterine growth retardation, Abnormal ... ORPHA:3199
Interstitial Nephritis, Karyomegalic
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... OMIM:614817
Autosomal Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Diarrhea, Bronchiectasis, High palate, Hepatitis, Skin rash, Arthr... ORPHA:33110
Adrenocortical Carcinoma
Increased serum estradiol, Hyperhidrosis, Hyperaldosteronism, Increased circulating cortisol leve... ORPHA:1501
Otodental Dysplasia
Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age... OMIM:166750
Late-Onset Familial Hypoaldosteronism
Hypotension, Decreased circulating aldosterone level, Abnormal circulating corticosterone level, ... ORPHA:556037
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Diarrhea, Recurrent otitis media, Autoimmune hemolytic anemia, Failure t... OMIM:618495
Polyarteritis Nodosa
Weight loss, Abnormality of the gastrointestinal tract, Pleuritis, Raynaud phenomenon, Hypertensi... ORPHA:767
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Decreased circulating aldosterone level, Hyperkalemia, Increased circulating renin l... OMIM:203400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, Recurrent opportunistic infections, Purulent rhinitis, Diarrhea, T lymphocytopeni... OMIM:601457
Pudendal Neuralgia
Episodic abdominal pain, Genital neoplasm, Abdominal colic, Neoplasm of the genitourinary tract, ... ORPHA:60039
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, Muscle eosinophilia, Myositi... OMIM:253600
Lymphoproliferative Syndrome, X-Linked, 1
Hepatic failure, Severe Epstein Barr virus infection, Neutropenia, Fulminant hepatitis, Recurrent... OMIM:308240
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypertension, Hypokalemia, Decreased circulating aldosterone l... OMIM:218030
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Herpes simplex encephalitis, Bronchiectasis, Increased proportion of memo... OMIM:618982
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Epistaxis, Bladder neoplasm ORPHA:46488
Enamel hypoplasia, Short stature, Delayed eruption of teeth, Short neck, Pseudohypoparathyroidism... OMIM:612463
Immunodeficiency, Common Variable, 1
Conjunctivitis, Diarrhea, Bronchiectasis, B lymphocytopenia, Neutropenia in presence of anti-neut... OMIM:607594
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Enamel hypoplasia, Hypodontia, Oral mucosal blisters, Patchy alopecia, C... OMIM:226650
Respiratory insufficiency, Gastroesophageal reflux, Abnormal atrioventricular conduction, Abnorma... ORPHA:732
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Isosexual precocious puberty, Increased urinary 11-deoxycorticosterone level, Premature thelarche... ORPHA:90795
American Trypanosomiasis
Achalasia, Diarrhea, Skin rash, Aganglionic megacolon, Congestive heart failure, Lymphadenopathy,... ORPHA:3386
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Scrub Typhus
Hypotension, Hyperhidrosis, Skin rash, Lymphadenopathy, Restrictive ventilatory defect, Dyspnea, ... ORPHA:83317
Liddle Syndrome 2
Decreased circulating renin level, Hypertension, Hypokalemia, Decreased circulating aldosterone l... OMIM:618114
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Recurrent urinary tract infections, Malabsorption, Chronic mucocutaneous candidi... OMIM:209920
Brain abscess, Prostatitis, Cachexia, Biliary tract abnormality, Myositis, Chronic diarrhea, Decr... ORPHA:2552
Adult-Onset Still Disease
Hepatitis, Skin rash, Arthritis, Pleuritis, Recurrent pharyngitis, Neutrophilia, Elevated hepatic... ORPHA:829
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Immune-Mediated Necrotizing Myopathy
Abnormal pulmonary interstitial morphology, Skin rash, Raynaud phenomenon, Congestive heart failu... ORPHA:206569
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Macrodontia, Abno... ORPHA:477781
Kerion Celsi
Alopecia, Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Lymphadeno... ORPHA:499
Rat-Bite Fever
Endocarditis, Septic arthritis, Lymphadenitis, Oligoarthritis, Maculopapular exanthema, Anemia, D... ORPHA:31205
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Diarrhea, Fasciitis, Pericarditis, Myositis, Intestinal obstruction, Splenomegaly, Skin rash, Art... ORPHA:32960
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis, Hematochezia OMIM:613148
Dental malocclusion, Splenomegaly, Mandibular prognathia, Narrow palate, Kyphosis, Widely spaced ... ORPHA:61
Brain abscess, Bronchiectasis, Productive cough, Fasciitis, Unusual CNS infection, Myositis, Pleu... ORPHA:228119
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Decreased circulating renin level, Pseudohypoaldosteronism, Hyperkalemia, Hyperte... OMIM:614492
Legionnaires Disease
Hypotension, Endocarditis, Respiratory insufficiency, Abnormal pleura morphology, Splenomegaly, D... ORPHA:549
Respiratory insufficiency, Chronic oral candidiasis, Exertional dyspnea, Weight loss, Interstitia... ORPHA:723
Interstitial Lung Disease 1
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... OMIM:619611
Bronchiectasis, Unusual CNS infection, Pleural effusion, Meningitis, Abnormal esophagus morpholog... ORPHA:1163
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Bacterial Toxic-Shock Syndrome
Hypotension, Septic arthritis, Diarrhea, Fasciitis, Myositis, Glomerulonephritis, Shock, Meningit... ORPHA:36234
Nephrogenic Diabetes Insipidus
Polyhydramnios, Hyposthenuria, Enuresis nocturna, Hypovolemia, Hypernatremic dehydration, Hydrour... ORPHA:223
Renal Hypoplasia, Bilateral
Vesicoureteral reflux, Beta 2-microglobulinuria, Glycosuria, Hyperkalemia, Chronic kidney disease... ORPHA:97362
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta, Alopecia of scalp, Trichodysplasia ORPHA:79129
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Pulmonary arterial hypertension, Decreased circulating renin level, Hypokalemia, Primary hyperald... OMIM:615474
Immunodeficiency 11B With Atopic Dermatitis
Bronchiectasis, Asthma, Ulcerative colitis, Colonic eosinophilia, Eosinophilia, Chronic diarrhea,... OMIM:617638
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenogenital syndrome, Hypertension, Renal salt wasting, Adrenal hyperplasia, Hypospadias OMIM:201910
Lynch Syndrome 2
Colon cancer OMIM:609310
Lynch Syndrome 1
Colon cancer OMIM:120435
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Dentin Dysplasia
Increased bone mineral density, Abnormality of dental morphology, Abnormal dental enamel morphology ORPHA:1653
Inflammatory Bowel Disease 11
Diarrhea, Weight loss, Abdominal pain, Inflammation of the large intestine, Hematochezia OMIM:191390
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hyperaldosteronism, Hypertension OMIM:605635
Adenine Phosphoribosyltransferase Deficiency
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... ORPHA:976
Endocarditis, Septic arthritis, Bronchitis, Osteomyelitis, Pleural empyema, Pleuritis, Abnormal r... ORPHA:449280
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Polyhydramnios, Hyperaldosteronism, Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchlorid... OMIM:613090
Eosinophilic Granulomatosis With Polyangiitis
Respiratory insufficiency, Myositis, Hypertrophic cardiomyopathy, Intestinal obstruction, Eosinop... ORPHA:183
Eosinophilic Fasciitis
Weight loss, Arthritis, Fasciitis, Abnormal eosinophil morphology, Myositis, Muscular edema, Eosi... ORPHA:3165
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... ORPHA:99798
Aredyld Syndrome
Sparse body hair, Mandibular prognathia, Aplasia/Hypoplasia of the eyebrow, Short stature, Advanc... ORPHA:1133
Pseudomyxoma Peritonei
Respiratory insufficiency, Weight loss, Nausea and vomiting, Abdominal pain, Inflammation of the ... ORPHA:26790
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, In... OMIM:617006
Mcdonough Syndrome
Dental malocclusion, Mandibular prognathia, Kyphosis, Short stature, Micrognathia, Synophrys, Cac... ORPHA:2471
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Aspiration pneumonia, Gastrostomy tube feeding in infancy, W... ORPHA:141152
Familial Hypoaldosteronism
Hypotension, Decreased circulating aldosterone level, Hypovolemia, Adrenal insufficiency, Hyperka... ORPHA:427
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Impaired renal concentrating ability, Polyhydramnios, Hyperaldosteronism, Hydrops fetalis, Hypoka... OMIM:602522
Brain abscess, Pneumothorax, Diarrhea, Fasciitis, Pericarditis, Pleural effusion, Gastritis, Coli... ORPHA:73263
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Anemia, Bloody diarrhea, Pleural empyema, Diarrhea, Weight loss,... ORPHA:67
Desmoid Disease, Hereditary
Breast carcinoma, Colon cancer, Colorectal polyposis, Desmoid tumors OMIM:135290
Malignant Atrophic Papulosis
Pleural effusion, Constrictive pericarditis, Gastrointestinal hemorrhage, Gastrointestinal infarc... OMIM:602248
Q Fever
Pericardial effusion, Elevated hepatic transaminase, Hepatosplenomegaly, Pericarditis, Pleural ef... ORPHA:781
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchiectasis, Viral hepatitis, Celiac disease, Psoriasiform dermatitis, Pneumonia, Atopic derma... ORPHA:183675
Cleft Palate, Isolated
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion OMIM:119540
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Acne inversa, Perifolliculitis OMIM:613737
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Enamel hypomineralization, Hypomature dental enamel OMIM:613211
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Joint stiffness, Short stature ORPHA:2871
Abnormal pulmonary interstitial morphology, Diarrhea, Skin rash, Cardiac arrest, Epistaxis, Arrhy... ORPHA:99745
Systemic Lupus Erythematosus
Malar rash, Leukopenia, Hemolytic anemia, Arthritis, Pleuritis, Nephritis, Pericarditis, Lupus ne... OMIM:152700
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... OMIM:204700
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Recurrent sinusitis, Inflammation of the large intestine, Recurr... OMIM:619281
Hemifacial Atrophy, Progressive
Dental malocclusion, Kyphosis, Tongue atrophy, Delayed eruption of teeth, Poliosis, Patchy alopec... OMIM:141300
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Bronchiectasis, Desquamative interstitial pneumonitis, Decreased DLCO,... OMIM:610913
Abeta Amyloidosis, Italian Type
Stroke, Cerebral hemorrhage ORPHA:324713
Genetic Recurrent Myoglobinuria
Hyperphosphatemia, Renal insufficiency, Acute kidney injury, Exercise-induced myoglobinuria, High... ORPHA:99845
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Hyperactivity, Short stature, Synophrys, Kyphoscoliosis OMIM:615541
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Diarrhea, Perianal abscess, Weight loss, Skin rash, Chronic co... OMIM:301074
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Severe short stature, Downturned corners of mouth, Neutropenia, Intrauterine g... ORPHA:2643
Factor Vii Deficiency
Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Menorrhagia, Prol... OMIM:227500
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Anemia, Keloids, Atrophic scars, Oral mucosal blisters, Growth delay, Carious ... ORPHA:79405
Avian Influenza
Pneumothorax, Diarrhea, Productive cough, Elevated hepatic transaminase, Pleural effusion, Mening... ORPHA:454836
Immune Thrombocytopenia
Cerebral hemorrhage, Petechiae, Purpura, Bruising susceptibility, Epistaxis, Gingival bleeding, G... ORPHA:3002
Antisynthetase Syndrome
Respiratory insufficiency, Pulmonary arterial hypertension, Abnormal pulmonary interstitial morph... ORPHA:81
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Enamel hypoplasia, Dystrophic toenail, Atrophic, patchy alopecia, Sparse axil... ORPHA:251393
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... OMIM:616221
Colchicine Poisoning
Hypotension, Renal insufficiency, Hypovolemia, Cardiogenic shock, Hypophosphatemia, Hypokalemia, ... ORPHA:31824
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... OMIM:202010
Congenital Disorder Of Glycosylation, Type Iik
Amelogenesis imperfecta, Short stature, Joint laxity, Failure to thrive, Kyphoscoliosis, Growth d... OMIM:614727
Micrognathia, Increased bone mineral density, Hepatosplenomegaly, Increased susceptibility to fra... ORPHA:763
Behçet Disease
Keratoconjunctivitis sicca, Pericarditis, Myositis, Retrobulbar optic neuritis, Pleural effusion,... ORPHA:117
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate OMIM:242530
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Arthritis, Lymphadenopathy OMIM:617772
Immunodeficiency 48
Recurrent candida infections, Diarrhea, Recurrent respiratory infections, Failure to thrive, Abse... OMIM:269840
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Crackles, Palpitations, Exertional dyspnea, Abnormality of ... ORPHA:563
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Sparse eyebrow, Short stature, Thin vermilion border, Malar flattening, Sparse... ORPHA:139474
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Dental malocclusion, Mandibular prognathia, Kyphosis, Short stature, Scoliosis, Abnormality of th... ORPHA:1858
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Enterocolitis, Diarrhea OMIM:260005
Muir-Torre Syndrome
Breast carcinoma, Colonic diverticula, Adenoma sebaceum, Duodenal adenocarcinoma, Malignant genit... OMIM:158320
Immunodeficiency 46
Conjunctivitis, Anemia, Chronic oral candidiasis, Recurrent sinopulmonary infections, Failure to ... OMIM:616740
Systemic-Onset Juvenile Idiopathic Arthritis
Juvenile rheumatoid arthritis, Skin rash, Pericarditis, Pleural effusion, Lymphadenopathy, Hepato... ORPHA:85414
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Widely-spaced incisors, Oligodontia, Proportionate short stature, ... OMIM:601668
Pediatric Systemic Lupus Erythematosus
Malar rash, Alopecia, Vomiting, Leukopenia, Diarrhea, Abnormality of the gastrointestinal tract, ... ORPHA:93552
Intermediate Osteopetrosis
Dental malocclusion, Back pain, Anemia, Increased susceptibility to fractures, Osteomyelitis, Rec... ORPHA:210110
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Alopecia, Atrophic gastritis, Hypothyroidism, Chronic oral candidiasis, Diarrhea, Irido... OMIM:240300
Anonychia-Microcephaly Syndrome
Carious teeth, Abnormality of the dentition ORPHA:1094
Majeed Syndrome
Flexion contracture, Osteomyelitis, Weight loss, Inflammatory abnormality of the skin, Malabsorpt... ORPHA:77297
Focal Myositis
Myositis, Weight loss ORPHA:48918
Lymphoproliferative Syndrome 2
Persistent EBV viremia, Severe varicella zoster infection, EBV meningitis, Uveitis, Hepatosplenom... OMIM:615122
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Decreased pro... ORPHA:331235
Bartter Syndrome, Type 1, Antenatal
Polyhydramnios, Dehydration, Hyperactive renin-angiotensin system, Low-to-normal blood pressure, ... OMIM:601678
Systemic Lupus Erythematosus, Susceptibility To, 6
Pericarditis, Malar rash, Pleuritis, Arthritis OMIM:609939
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Cirrhosis, Respiratory insufficiency... ORPHA:779
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Anemia, Keloids, Atrophic scars, Oral mucosal blisters, Growth delay, Carious ... ORPHA:79406
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Renal salt wasting, Hypospadias, Congenital adrenal hyperplasia OMIM:201710
Cerebral Amyloid Angiopathy, App-Related
Cerebellar hemorrhage, Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorr... OMIM:605714
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Biliary atresia, Calf muscle hypertrophy, Myositis, Skeletal muscle atrophy, Proximal muscle weak... ORPHA:565899
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... OMIM:125500
Immunodeficiency 70
Achalasia, Decreased proportion of CD4-positive helper T cells, B lymphocytopenia, Recurrent sinu... OMIM:618969
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Anemia, Hepatic fibrosis, Chronic diarrhea, Elevated hepatic transaminase, Congest... OMIM:615895
Familial Adenomatous Polyposis 3
Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Duodenal adenocarcinoma, Basal cell... OMIM:616415
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevate... ORPHA:90791
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... OMIM:204650
Factor Xiii, A Subunit, Deficiency Of
Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracran... OMIM:613225
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Chronic oral candidiasis, Diarrhea, Recurrent herpes, Hepatitis, De... ORPHA:169160
Transient Neonatal Diabetes Mellitus
Hypothyroidism, Transient neonatal diabetes mellitus, Small for gestational age, Diabetic ketoaci... ORPHA:99886
Agammaglobulinemia, X-Linked
Septic arthritis, T lymphocytopenia, Bronchiectasis, Prostatitis, Enteroviral hepatitis, Hepatoce... OMIM:300755
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Ple... ORPHA:1304
Macrophage Activation Syndrome
Hepatomegaly, Decreased liver function, Thrombocytopenia, Splenomegaly, Elevated circulating alan... ORPHA:158061
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Growth Hormone Insensitivity Syndrome
Diabetes insipidus, Hypogonadism, Delayed eruption of teeth, Short stature, Type II diabetes mell... ORPHA:181393
Proteasome-Associated Autoinflammatory Syndrome 4
Flexion contracture, Myositis, Autoimmune hemolytic anemia, Lymphadenopathy, Skeletal muscle atro... OMIM:619183
Idiopathic Bronchiectasis
Respiratory tract infection, Productive cough, Bronchiectasis, Cachexia, Abnormal respiratory sys... ORPHA:60033
Craniosynostosis 3
Left unicoronal synostosis, Dental malocclusion, Sagittal craniosynostosis, Right unicoronal syno... OMIM:615314
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
Dental Ankylosis
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology ORPHA:1077
Immunodeficiency 37
Infectious encephalitis, Decreased proportion of central memory CD4-positive, alpha-beta T cells,... OMIM:616098
Mannose-Binding Lectin Deficiency
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent Klebsiella inf... OMIM:614372
Ramon Syndrome
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Failure to thrive, Osteolysis, D... ORPHA:3019
Primary Sclerosing Cholangitis
Spider hemangioma, Cholangiocarcinoma, Hepatocellular carcinoma, Chronic hepatic failure, Hepatos... ORPHA:171
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... OMIM:617222
Generalized Pseudohypoaldosteronism Type 1
Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circulating renin ... ORPHA:171876
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Multiple joint contractures, Selective tooth agenesis, Micrognathia, Bifid uvu... ORPHA:2959
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocolitis, Perianal abscess, Folliculitis, Pancolitis, Recurrent bronchitis, Enterocutaneous ... OMIM:612567
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Elevated circulating acylcarnitine concentration, Hypothermia, Decreased plasma carn... ORPHA:159
Adenine Phosphoribosyltransferase Deficiency
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Elevated circulating creati... OMIM:614723
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Purpura, Cerebral hemorrhage OMIM:614514
Juvenile Nephropathic Cystinosis
Abnormal urine potassium concentration, Hypothyroidism, Aminoaciduria, Hypocalcemic tetany, Low-m... ORPHA:411634
Amelocerebrohypohidrotic Syndrome
Yellow-brown discoloration of the teeth, Short stature, Amelogenesis imperfecta, Abnormality of d... ORPHA:1946
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, Sparse eyebrow, Tiger tail banding, Joint laxity, Sparse hair, High, narrow ... OMIM:619692
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Enamel hypoplasia, Anemia, Short stature, Increased connective tissue, Scarring alopecia of scalp... OMIM:226670
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Atherosclerosis, Hepatic failure, Myocarditis, Dysphagia ORPHA:2724
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Dentinogenesis imperfecta, Short stature, Delayed eruption of teeth, Short philtrum, Platyspondyl... ORPHA:71267
Acute Adrenal Insufficiency
Hypotension, Hyperuricemia, Decreased circulating aldosterone level, Hypovolemia, Increased circu... ORPHA:95409
Bartter Syndrome, Type 2, Antenatal
Polyhydramnios, Dehydration, Hyperactive renin-angiotensin system, Polydipsia, Low-to-normal bloo... OMIM:241200
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Breast carcinoma, Seborrheic keratosis, Duodenal adenocarcinoma, Neopl... ORPHA:454840
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Torus palatinus, Thickened cortex... OMIM:144750
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Pericardial effusion, Inflammatory abnormality of the eye, Pleural effusion, Airway obs... ORPHA:36412
Dissecting Cellulitis Of The Scalp
Abnormal hair morphology, Pruritus, Recurrent skin infections ORPHA:345
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... OMIM:618386
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... OMIM:610921
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Interstitial pneumonitis, Ulcerative colitis, Recurrent sinopulmonary infections, ... OMIM:614878
Epidermolysis Bullosa, Junctional 1B, Severe
Enamel hypoplasia, Atrophic scars, Failure to thrive, Carious teeth, Nail dystrophy OMIM:226700
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Failure to thrive, Decreased response to growth hormone stimulation test, Respiratory distress, L... OMIM:245590
Idiopathic Achalasia
Bronchitis, Gastroesophageal reflux, Weight loss, Recurrent aspiration pneumonia, Malnutrition, C... ORPHA:930
Dermatitis, Atopic
Conjunctivitis, Allergic rhinitis, Asthma, Eczema, Cataract, Recurrent skin infections, Pruritus,... OMIM:603165
Complement Component 4B Deficiency
Chronic active hepatitis, Asthma, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia OMIM:614379
Abnormal large intestine morphology, Fasciitis, Abnormal stomach morphology, Pericarditis, Alopec... ORPHA:801
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Abnormal natural killer cell count, Skin rash, Elevated hepatic transaminase, Abno... ORPHA:331206
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentration, Increased circul... OMIM:241150
Rheumatic Fever
Endocarditis, Respiratory insufficiency, Abnormal pleura morphology, Abnormal mitral valve morpho... ORPHA:3099
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Fine hai... ORPHA:1028
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Hypothyroidism, Hypogonadism, Delayed eruption of teeth, Short stature, Elevat... OMIM:103580
Brain abscess, Pneumothorax, Scleritis, Productive cough, Unusual CNS infection, Pericarditis, Pl... ORPHA:31204
Osteogenesis Imperfecta, Type V
Dentinogenesis imperfecta, Biconcave vertebral bodies, Recurrent fractures, Short stature, Hypere... OMIM:610967
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Atkin-Flaitz Syndrome
Kyphosis, Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median tongue fu... OMIM:300431
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Camptodactyly of finger, Dental malocclusion, Moderately short stature, Irregular vertebral endpl... OMIM:612350
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Hemolytic anemia, Skin rash, Lymphopenia, Colitis, Thrombocytopenia, Anterior uveitis OMIM:616744
Familial Cervical Artery Dissection
Cerebral ischemia, Transient ischemic attack, Arterial fibromuscular dysplasia, Hypertension, Str... ORPHA:36382
Dyskeratosis Congenita, Autosomal Dominant 1
Leukopenia, Anemia, Alopecia, Cirrhosis, Premature graying of hair, Interstitial pneumonitis, Hep... OMIM:127550
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration... OMIM:612462
Amelogenesis Imperfecta, Type If
Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta OMIM:616270
Congenital Enterovirus Infection
Hypotension, Leukopenia, Hepatic failure, Anemia, Neutropenia, Abnormal macrophage morphology, He... ORPHA:292
Maxillonasal Dysplasia, Binder Type
Vertebral clefting, Dental malocclusion, Patchy distortion of vertebrae OMIM:155050
Bartter Syndrome Type 4
Impaired renal concentrating ability, Polyhydramnios, Hyperaldosteronism, Acute kidney injury, St... ORPHA:89938
Pulmonary Blastoma
Pleuropulmonary blastoma, Weight loss, Recurrent pneumonia, Dyspnea, Cough ORPHA:64741
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta, Thin bony cortex, Recurrent fractures, Short stature, Decreased circul... OMIM:619795
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Myositis, Elevated circulating ... OMIM:615422
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Conjunctivitis, Septic arthritis, Enteroviral dermatomyositis syndrome, Diarrhea, Prostatitis, Re... OMIM:307200
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Sterile abscess, Arthritis, Sterile arthritis, Pancytopenia, Hepatosplenomegaly, Cystic acne, Thr... OMIM:604416
Dental Anomalies And Short Stature
Intervertebral space narrowing, Mandibular prognathia, Short stature, Widely spaced teeth, Microd... OMIM:601216
Rubinstein-Taybi Syndrome 2
Retrognathia, Dental malocclusion, Talon cusp, Hyperactivity, Narrow palate, High palate, Short s... OMIM:613684
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Clark-Baraitser syndrome
Kyphosis, Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated median tongue fu... OMIM:300602
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis ORPHA:88643
Mulibrey Nanism
Enamel hypoplasia, Dental malocclusion, Hypoplastic frontal sinuses, Short stature, Hypodontia, T... OMIM:253250
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated circulating creati... OMIM:619468
Abeta Amyloidosis, Iowa Type
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology ORPHA:324708
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Bronchiectasis, T lymphocytopenia, Gastritis, Colitis, Recurrent skin infections, Pneum... OMIM:619381
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:104510
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Dental malocclusion, Mandibular prognathia, High palate, Dysphagia, Arthrogryposis multiplex cong... OMIM:608931
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Anemia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Abdominal pa... OMIM:174900
Self-Improving Dystrophic Epidermolysis Bullosa
Enamel hypoplasia, Anemia, Atrophic scars, Oral mucosal blisters, Growth delay, Carious teeth, Na... ORPHA:79411
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Megaloblastic anemia, Diarrhea, Abnormal erythrocyte morphology, Gastritis, Folate-unresponsive m... ORPHA:2575
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy, Granuloma OMIM:614893
Hemorrhagic Fever-Renal Syndrome
Hypotension, Acute tubulointerstitial nephritis, Shock, Glomerulonephritis, Pleural effusion, Pal... ORPHA:340
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Whim Syndrome
Lymphadenitis, Respiratory tract infection, Neutropenia, Bronchiectasis, Abnormality of neutrophi... ORPHA:51636
Isolated Agammaglobulinemia
Anemia, Diarrhea, Recurrent respiratory infections, Malabsorption, Skin rash, Inflammatory abnorm... ORPHA:229717
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Liver absc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Liver absc... OMIM:233710
Halothane Hepatitis
Hepatitis, Viral hepatitis, Jaundice, Eosinophilia OMIM:234350
Intellectual Disability, Birk-Barel Type
Incisor macrodontia, Sacral dimple, Foot joint contracture, Congenital finger flexion contracture... ORPHA:166108
Filippi Syndrome
Decreased body weight, Hypodontia, Microdontia, Abnormality of dental morphology, Short philtrum,... OMIM:272440
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Salmonella osteomyelitis, Pneumonia, Vasculitis in the skin ORPHA:319552
Congenital Factor V Deficiency
Persistent bleeding after trauma, Post-partum hemorrhage, Intracranial hemorrhage, Bruising susce... ORPHA:326
Osteogenesis Imperfecta, Type Xix
Dentinogenesis imperfecta, Biconcave vertebral bodies, Rhizomelia, Recurrent fractures, Vertebral... OMIM:301014
Thymic Aplasia
Hypothyroidism, Opportunistic infection, Diarrhea, T lymphocytopenia, Recurrent Staphylococcus au... ORPHA:83471
Microscopic Polyangiitis
Diarrhea, Episcleritis, Skin rash, Arthritis, Congestive heart failure, Uveitis, Pericarditis, Ep... ORPHA:727
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Abnormal pulmonary interstitial morphology, Recurrent sinusitis, Hepatosplenomegaly, Hemo... OMIM:613101
Intellectual Disability And Myopathy Syndrome
Incisor macrodontia, Dental malocclusion, Achilles tendon contracture, Thin upper lip vermilion, ... OMIM:619719
Potocki-Lupski Syndrome
Dental malocclusion, Hyperactivity, Mandibular prognathia, High palate, Hypothyroidism, Wide mout... OMIM:610883
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cirrhosis, Cholestatic liver disease, Weight loss, Jaundice, Hepatocellular carci... ORPHA:65682
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter... ORPHA:231154
Sjogren-Larsson Syndrome
Thoracic kyphosis, Enamel hypoplasia, Flexion contracture, Short stature OMIM:270200
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Decreased glomerular filtratio... OMIM:601198
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Anemia, Small for gestational age, Elevated hepatic transaminase, Respira... OMIM:260400
Zika Virus Disease
Conjunctivitis, Vomiting, Myelitis, Pruritus, Skin rash, Arthritis, Iris coloboma, Thrombocytopen... ORPHA:448237
Diarrhea 1, Secretory Chloride, Congenital
Polyhydramnios, Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia... OMIM:214700
Gitelman Syndrome
Hypotension, Hypokalemia, Increased circulating renin level, Nocturia, Delayed puberty, Polyuria,... OMIM:263800
Reversible Cerebral Vasoconstriction Syndrome
Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Transient ischemic att... ORPHA:284388
Vein Of Galen Aneurysmal Malformation
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology ORPHA:1053
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Liver absc... OMIM:233690
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Erythroderma, Neutropenia, Cholestatic liver disease, Skin rash, Jaundice, Elevated hepat... ORPHA:540
Myasthenia Gravis
Hyperthyroidism, Hemolytic anemia, Rheumatoid arthritis, Hepatitis, Raynaud phenomenon, Primary a... ORPHA:589
Pyle Disease
Thin bony cortex, Mandibular prognathia, Limited elbow extension, Hypoplastic frontal sinuses, De... OMIM:265900
Hemochromatosis, Neonatal
Hepatic failure, Hepatic fibrosis, Abnormality of iron homeostasis, Cirrhosis, Hepatocellular nec... OMIM:231100
Multicentric Reticulohistiocytosis
Cachexia, Arthritis, Histiocytosis ORPHA:139436
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... OMIM:301200
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Dental malocclusion, Mild short stature, Mandibular prognathia, High palate OMIM:618292
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Autoimmune Polyendocrinopathy Type 4
Biliary cirrhosis, Keratoconjunctivitis sicca, Primary adrenal insufficiency, Celiac disease, Gra... ORPHA:227990
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Crohn's disease, Bronchiectasis, Ulcerative colitis, Pancytopenia, Recu... OMIM:618394
Osteogenesis Imperfecta, Type Ix
Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphos... OMIM:259440
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Anemia, Mandibular prognathia, Sparse scalp hair, Delayed eruption of teeth, Short phil... ORPHA:2325
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Retrognathia, Enamel hypoplasia, High palate OMIM:617915
Immunodeficiency 68
Lymphadenitis, Septic arthritis, Abnormal natural killer cell count, T lymphocytopenia, B lymphoc... OMIM:612260
Epidermolysis Bullosa, Junctional 4, Intermediate
Dental enamel pits, Scarring alopecia of scalp, Carious teeth, Dystrophic fingernails, Nail dystr... OMIM:619787
Benign Cephalic Histiocytosis
Skin rash, Histiocytosis, Inflammatory abnormality of the skin ORPHA:157997
Hb Bart'S Hydrops Fetalis
Anemia, Congestive heart failure, Pericarditis, Hepatomegaly, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Auriculocondylar Syndrome 2
Dental malocclusion, Mandibular condyle hypoplasia, Temporomandibular joint ankylosis, Micrognath... OMIM:614669
Sweet Syndrome
Oligoarthritis, Acute myeloid leukemia, Anemia, Sterile abscess, Chronic lymphatic leukemia, Smal... ORPHA:3243
Immunodeficiency 15A
Acne inversa, Decreased proportion of CD8-positive T cells, Cutaneous abscess, Recurrent sinusiti... OMIM:618204
Chilblain Lupus 2
Chilblains OMIM:614415
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Acute myeloid leukemia, Aplasia/Hypoplasia of the eyebrow, Hernia, Hyperactivi... OMIM:617052
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Short stature, Widely spaced teeth OMIM:616108
Septic arthritis, Brain abscess, Diarrhea, Unusual CNS infection, Pericarditis, Meningitis, Pneum... ORPHA:533
Autoimmune Polyendocrinopathy Type 3
Biliary cirrhosis, Keratoconjunctivitis sicca, Primary adrenal insufficiency, Celiac disease, Gra... ORPHA:227982
Thymic Tumor
Neoplasm of the thymus, Cardiac arrest, Pericarditis, Dyspnea, Cough, Mediastinal lymphadenopathy... ORPHA:100100
Giant Cell Arteritis
Sudden cardiac death, Abdominal aortic aneurysm, Abnormal pleura morphology, Alopecia, Hepatic fa... ORPHA:397
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Pancreatitis, Respiratory distress, Failure to thrive, Hepatomegaly, Thrombocytopenia, Ne... ORPHA:79312
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Anemia, Hypothyroidism, Chronic diarrhea, Severe infection, Villous atrophy, Hepatitis,... OMIM:304790
Hirschsprung Disease, Susceptibility To, 1
Vomiting, Enterocolitis, Aganglionic megacolon, Abdominal distention, Constipation, Abnormality o... OMIM:142623
Syndromic Diarrhea
Hypothyroidism, Bloody diarrhea, Hypoplasia of the thymus, Hepatoblastoma, Gastritis, Hepatomegal... ORPHA:84064
Autosomal Dominant Severe Congenital Neutropenia
Gingivitis, Oral ulcer, Recurrent aphthous stomatitis, Acute myeloid leukemia, Periodontitis, Cel... ORPHA:486
Systemic Sclerosis
Abnormal large intestine morphology, Abnormal stomach morphology, Pericarditis, Glomerulonephriti... ORPHA:90291
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Intracranial hemorrhage, Hypert... ORPHA:231160
Malignant Atrophic Papulosis
Intestinal fistula, Intestinal perforation, Abnormal pericardium morphology, Ischemic stroke, Wei... ORPHA:679
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Neoplasm of the skin, Reticulocytosis... ORPHA:3261
Bloody diarrhea, Thrombocytopenia, Pneumonia, Acute colitis, Abscess, Splenic abscess, Arthritis,... ORPHA:810
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:615954
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Bronchiectasis, T lymphocytopenia, Eczema, Hepatosplenomegaly, Abnormal intestine morph... ORPHA:391487
Triokinase And Fmn Cyclase Deficiency Syndrome
Elevated circulating alanine aminotransferase concentration, Dilated cardiomyopathy, Hepatic stea... OMIM:618805
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pulmonary arterial hypertension, Mitral valve calcification, Hepatic fibrosis, Bacterial endocard... ORPHA:2072
Aicardi-Goutieres Syndrome 7
Hypothyroidism, Bloody diarrhea, Diarrhea, Pericardial effusion, Generalized lymphadenopathy, Hep... OMIM:615846
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Liver absc... OMIM:306400
Wilson Disease
Cirrhosis, Anemia, Pruritus, Proximal muscle weakness in lower limbs, Weight loss, Hepatitis, Art... ORPHA:905
Familial Mediterranean Fever
Diarrhea, Pericarditis, Intestinal obstruction, Splenomegaly, Skin rash, Arthritis, Erysipelas, O... ORPHA:342
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... ORPHA:189427
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Esophageal carcinoma, Papillary thyroid carcinoma, Breast carcinoma, As... ORPHA:247806
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Pyoderma Gangrenosum
Myeloid leukemia, Rheumatoid arthritis, Myositis, Inflammation of the large intestine, Pustule ORPHA:48104
Drug-Induced Lupus Erythematosus
Malar rash, Anemia, Pericardial effusion, Pericarditis, Serositis, Dyspnea, Thrombocytopenia, Pro... ORPHA:231111
Juvenile Dermatomyositis
Angina pectoris, Pericarditis, Myositis, Dysphagia, Alopecia, Weight loss, Calcinosis, Skin rash,... ORPHA:93672
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... OMIM:219080
Squamous Cell Carcinoma Of The Anal Canal
Papilloma, Abdominal pain, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, An... ORPHA:424019
Crome Syndrome
Renal tubular epithelial necrosis OMIM:218900
48,Xxyy Syndrome
Broad jaw, Delayed eruption of teeth, Thick lower lip vermilion, Type II diabetes mellitus, Infer... ORPHA:10
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Abnormal urine potassium concentration, Hypotension, Adrenocorticotropic hormone excess, Decrease... ORPHA:289548
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyuria, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia OMIM:222100
Congenital Pancreatic Cyst
Jaundice, Vomiting, Pancreatitis ORPHA:313906
Mucopolysaccharidosis Type 4
Hyperlordosis, Reduced bone mineral density, Hernia, Wide mouth, Kyphosis, Grayish enamel, Short ... ORPHA:582
Juvenile Temporal Arteritis
Conjunctivitis, Cerebral ischemia, Allergic rhinitis, Eosinophilia, Leukocytosis, Vasculitis ORPHA:26137
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Acute kidney injury, Glomerulonephritis, Glomerular C3 deposition, Proteinuri... ORPHA:567544
Mandibuloacral Dysplasia
Acroosteolysis of distal phalanges (feet), Micrognathia, Abnormal tongue morphology, Increased in... ORPHA:2457
Cardiogenic Shock
Hypotension, Impaired myocardial contractility, Increased pulmonary capillary wedge pressure, Abn... ORPHA:97292
Immunodeficiency 22
Anemia, Decreased proportion of CD4-positive helper T cells, Chronic oral candidiasis, Diarrhea, ... OMIM:615758
Congenital Factor Vii Deficiency
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... ORPHA:327
Neoplasm of the gastrointestinal tract, Weight loss, Rheumatoid arthritis, Pure red cell aplasia,... ORPHA:99867
Cockayne Syndrome Type 2
Enamel hypoplasia, Mandibular prognathia, Flexion contracture, Delayed eruption of primary teeth,... ORPHA:90322
Muckle-Wells Syndrome
Conjunctivitis, Camptodactyly of finger, Anemia, Recurrent aphthous stomatitis, Skin rash, Arthri... ORPHA:575
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion, Sparse hair OMIM:613576
Jalili Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology ORPHA:1873
Alopecia Antibody Deficiency
Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Short stature, Abnormal eyelash morphology, ... ORPHA:1006
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1
Herpes simplex encephalitis, Recurrent herpes OMIM:610551
Myositis OMIM:160750
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Abnormal urine potassium concentration, Hypotension, Adrenocorticotropic hormone excess, Decrease... ORPHA:168558
Hypothyroidism, Aminoaciduria, Hypophosphatemia, Hypokalemia, Type I diabetes mellitus, Delayed p... ORPHA:213
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Enamel hypoplasia, Sparse lateral eyebrow, Thick vermilion border ORPHA:363523
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Elevated hepatic transaminase, Generalized lymphadenopathy, Pleur... ORPHA:50918
Atkin-Flaitz Syndrome
Short stature, Thick vermilion border, Maxillary lateral incisor microdontia, Everted lower lip v... ORPHA:1193
Gitelman Syndrome
Parathyroid adenoma, Pericardial effusion, Neoplasm of the pancreas, Graves disease, Palpitations... ORPHA:358
Short Stature, Dauber-Argente Type
Short stature, Delayed eruption of teeth, Osteopenia, Fasting hyperinsulinemia, Postnatal growth ... OMIM:619489
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Short stature, Delayed eruption of teeth, Hypodontia, Dysphagia, Nail dystrophy OMIM:616029
Immunodeficiency 87 And Autoimmunity
Atrioventricular canal defect, Necrotizing enterocolitis, Decreased proportion of CD4-positive T ... OMIM:619573
Bartter Syndrome, Type 5, Antenatal, Transient
Polyhydramnios, Hypokalemia, Medullary nephrocalcinosis, Increased circulating renin level, Hypoc... OMIM:300971
Familial Afibrinogenemia
Epistaxis, Abnormal bleeding, Gingival bleeding, Cerebral hemorrhage ORPHA:98880
Septic arthritis, Respiratory tract infection, Brain abscess, Prostatitis, Abnormal parotid gland... ORPHA:31202
Immunodeficiency, Common Variable, 3
Conjunctivitis, Recurrent sinusitis, Recurrent otitis media, Recurrent bacterial infections, Decr... OMIM:613493
Immunodeficiency 27A
Anemia, Diarrhea, Weight loss, Hepatosplenomegaly, Abnormal bronchus physiology, Lymphadenopathy,... OMIM:209950
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... ORPHA:2442
Osteogenesis Imperfecta, Type Xii
Dentinogenesis imperfecta, High palate, Recurrent fractures, Short stature, Delayed eruption of t... OMIM:613849
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Pseudo-Torch Syndrome 3
Lymphadenitis, Respiratory insufficiency, Anemia, Cerebral hemorrhage, Hypertension, Apnea, Leuko... OMIM:618886
Immunodeficiency 31A
Recurrent mycobacterium avium complex infections, Herpes simplex encephalitis, BCGitis, Recurrent... OMIM:614892
Agammaglobulinemia 6, Autosomal Recessive
Conjunctivitis, Abnormal T cell morphology, Diarrhea, B lymphocytopenia, Recurrent bronchitis, Ch... OMIM:612692
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Enterocolitis, Villous atrophy, Feeding difficulties i... OMIM:616050
Braddock-Carey Syndrome 1
Enamel hypoplasia, Hyperlordosis, Curly hair, Pierre-Robin sequence, Camptodactyly, Everted lower... OMIM:619980
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Primary Sjögren Syndrome
Biliary cirrhosis, Chronic active hepatitis, Keratoconjunctivitis sicca, Myositis, Glomerulonephr... ORPHA:289390
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Sudden cardiac death, Hyperaldosteronism, Hypocalcemic tetany,... ORPHA:73224
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Jaundice, Emphysema, Hepatomegaly ORPHA:60
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7
Herpes simplex encephalitis OMIM:616532
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypothyroidism, Decreased body weight, Micrognathia, Synophrys, Dorsocervical fat pad, Hypoglycem... ORPHA:391408
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis, Lymphocytic interstitial pneumonia OMIM:247610
Liddle Syndrome
Cerebral ischemia, Hypokalemia, Hypertension, Nephropathy, Arrhythmia, Renal insufficiency ORPHA:526
Griscelli Syndrome
Leukopenia, Abnormal eyebrow morphology, Premature graying of hair, Hepatitis, Iris hypopigmentat... ORPHA:381
Mandibuloacral Dysplasia With Type B Lipodystrophy
Flexion contracture, Acroosteolysis of distal phalanges (feet), Micrognathia, Progressive clavicu... OMIM:608612
Amoebiasis Due To Free-Living Amoebae
Respiratory tract infection, Vomiting, Increased red blood cell count, Granuloma, Unusual skin in... ORPHA:68
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, High palate, Adenocarcinoma of the colon, Cleft soft palate, ... ORPHA:124
African Iron Overload
Hepatic fibrosis, Increased circulating cortisol level, Hepatitis, Chronic infection, Hepatocellu... ORPHA:139507
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Sinusitis, Otitis media, Decreased proportion of CD... OMIM:312863
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts OMIM:609886
Seckel Syndrome 5
Retrognathia, Enamel hypoplasia, High palate, Short stature, Selective tooth agenesis, Micrognath... OMIM:613823
Cleft Lip/Palate
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... ORPHA:199306
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess, Renal salt wasting OMIM:613743
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Agenesis of incisor, Enamel hypomineralization, Widely spaced teeth, Microdon... ORPHA:3352
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... OMIM:619350
Granulomatosis With Polyangiitis
Respiratory insufficiency, Prostatitis, Inflammatory abnormality of the eye, Angina pectoris, Per... ORPHA:900
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthritis, Constrictive pericarditis OMIM:208250
Factor X Deficiency
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Menorrhagia, Prolonged prothrombin time, P... OMIM:227600
Oculoskeletodental Syndrome
Retrognathia, Enamel hypoplasia, Hyperlordosis, Short stature, Thoracic kyphosis, Microdontia, Ol... ORPHA:557003
Cohen Syndrome
Leukopenia, Childhood-onset truncal obesity, Decreased response to growth hormone stimulation tes... OMIM:216550
Kawasaki Disease
Ascending tubular aorta aneurysm, Diarrhea, Pericarditis, Cervical lymphadenopathy, Abnormal pulm... ORPHA:2331
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Anemia, Skin rash, Jaundice, Elevated hepatic transaminase, Pancytopenia, Hepatosplen... OMIM:603553
Chylous Ascites
Abnormal intestine morphology, Pancreatitis ORPHA:1160
Blepharophimosis-Impaired Intellectual Development Syndrome
Flexion contracture, Microdontia, Synophrys, Sparse eyelashes, Thick eyebrow, Highly arched eyebr... OMIM:619293
Celiac Disease, Susceptibility To, 1
Enamel hypoplasia, Alopecia, Recurrent aphthous stomatitis, Weight loss, Short stature, Infertili... OMIM:212750
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Precocious puberty, Recurrent fractures, Short stature, Abnormality of dental morpholog... OMIM:163200
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Enamel hypoplasia, Recurrent fractures, Delayed eruption of teeth, Alopecia uni... OMIM:277440
Gastrointestinal Stromal Tumor
Neoplasm of the stomach, Anemia, Neoplasm of the gastrointestinal tract, Nausea and vomiting, Ski... ORPHA:44890
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:95716
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Diarrhea, Recurrent Haemophilus influenzae infections, Absent tonsils, Hepatomegaly, Decreased pr... ORPHA:276
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia, Weakness of facial musculature, Angulated muscle fibers, Scapular winging, ... OMIM:619477
Myopathy, Myofibrillar, 8
Dental malocclusion, High palate, Spinal rigidity, Micrognathia, Achilles tendon contracture, Dis... OMIM:617258
Gm1 Gangliosidosis
Camptodactyly of finger, Hepatosplenomegaly, Hirsutism, Dysphagia, Splenomegaly, Abnormal retinal... ORPHA:354
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Sclerosing cholangitis, Meningitis, Hepatomegaly, Absence of lymph node germinal center... OMIM:308230