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Gene: F2r MGI:101802

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

coagulation factor II thrombin receptor

Synonyms:

Par1, thrombin receptor, Cf2r, ThrR

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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 F2r 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.

Human diseases associated with F2r (0 diseases)
Human diseases predicted to be associated with F2r (940 diseases)

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

The table below shows human diseases predicted to be associated to F2r by phenotypic similarity.

Disease	Matching phenotypes	Source
Cholangiocarcinoma, Susceptibility To	Cholangiocarcinoma	OMIM:615619
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Short stature, Polyhydramnios, Abnormal limb bone morphology, Hyd...	ORPHA:2204
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m...	ORPHA:166119
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty...	ORPHA:3152
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero...	OMIM:615198
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy	ORPHA:158025
Melorheostosis With Osteopoikilosis	Hypertension, Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the dis...	ORPHA:1879
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Dubin-Johnson Syndrome	Jaundice, Biliary tract abnormality	OMIM:237500
Mueller-Weiss Syndrome	Limitation of movement at ankles, Edema of the dorsum of feet, Sclerosis of foot bone, Joint stif...	ORPHA:566943
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Bronchiectasis, Lymphadenopathy, Follicular hyperplasia	OMIM:619126
Ossification Of The Posterior Longitudinal Ligament Of Spine	Myelopathy, Ectopic ossification, Increased bone mineral density	OMIM:602475
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Immunodeficiency 104	Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy, Otitis media...	OMIM:608971
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow...	OMIM:300009
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t...	ORPHA:3416
Hypophosphatemic Rickets, X-Linked Recessive	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow...	OMIM:300554
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Pedal edema	ORPHA:75325
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy, Increased circulating IgM level, Decreased circulating IgG level, ...	OMIM:608106
12q14 microdeletion syndrome	Osteopoikilosis, Proportionate short stature	DECIPHER:76
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo...	ORPHA:2790
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Pyknoachondrogenesis	Increased bone mineral density, Stillbirth	OMIM:265880
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho...	ORPHA:79106
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Autosomal Recessive Primary Microcephaly	Short stature, Unilateral renal agenesis, Growth delay, Gray matter heterotopia, Vesicoureteral r...	ORPHA:2512
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Polyuria, Osteoporosis, Rickets, Dehydration, Proximal tubulopathy, Failure to thrive	OMIM:560000
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Hypercalcemia, Infantile, 1	Polyuria, Hypercalcemia, Nephrolithiasis, Dehydration, Weight loss, Nephrocalcinosis, Hypercalciu...	OMIM:143880
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Abnormal cir...	OMIM:241530
Dent Disease	Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay...	ORPHA:1652
Bartter Syndrome, Type 1, Antenatal	Osteopenia, Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Ne...	OMIM:601678
Melorheostosis	Increased bone mineral density, Joint stiffness, Lymphedema, Hyperostosis, Arthritis, Ectopic oss...	ORPHA:2485
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Dextrocardia, Polyuria, Mesoaxial hand polydactyl...	OMIM:615994
Kimura Disease	Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,...	OMIM:618982
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Short humeru...	OMIM:239000
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis, Lymphadenopathy	OMIM:617772
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Short sta...	OMIM:614856
Flynn-Aird Syndrome	Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s...	OMIM:136300
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Stage 3 chronic kidney disease, Cortical sclerosis, Postnatal gro...	OMIM:620366
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Proteinuria, Pericardial effusion, Abnormal myocardiu...	ORPHA:77259
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,...	OMIM:620152
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Craniosynostosis	ORPHA:178377
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Lymphadenopathy, Increased circulating IgM level, Decreased circula...	OMIM:615513
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ...	OMIM:613845
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti...	ORPHA:289176
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Diastrophic Dysplasia	Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Jo...	ORPHA:628
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb...	ORPHA:90650
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Bronchiectasis, Lymphadenopathy, Increased circulating IgG level, Incre...	OMIM:619220
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy, Increased circulating IgM level, Decreased circulating IgG level, Complete or ne...	OMIM:605258
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Proteinuria, Short stature, Avascular necrosis of the capital femoral epiphysis, Rena...	OMIM:611555
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Obesity, Tall stature	OMIM:618406
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Edema, Pulmonary emb...	ORPHA:567548
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Increased serum prostaglandin E2, Polyhydramnios, Renal salt wasting, Dehydration, Ne...	OMIM:241200
Majeed Syndrome	Glomerulopathy, Increased bone mineral density, Osteomyelitis, Proteinuria, Cachexia, Edema, Micr...	ORPHA:77297
Chondrodysplasia, Blomstrand Type	Polyhydramnios, Fetal ascites, Micromelia, Generalized osteosclerosis, Squared iliac bones, Flare...	OMIM:215045
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Short stature, Cortical sclerosis, Craniofacial osteosclerosis, Diaphy...	OMIM:122860
Cystinosis, Nephropathic	Metaphyseal widening, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight pr...	OMIM:219800
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,...	OMIM:109130
Lethal Recessive Chondrodysplasia	Micromelia, Polyhydramnios, Edema, Generalized osteosclerosis, Short long bone, Flared elbow meta...	ORPHA:1423
Immunodeficiency, Common Variable, 2	Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphadenopathy, Conju...	OMIM:240500
Familial Expansile Osteolysis	Bowing of the long bones, Osteolysis, Hydroxyprolinuria, Pathologic fracture, Thin bony cortex	OMIM:174810
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Abnorm...	OMIM:619795
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Increased circulating IgM level, Decreased circulating IgE...	OMIM:606843
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Coxa valga, Flat acetabular roof, Oligosacchariduria, Hemiatrophy...	ORPHA:163649
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	OMIM:109720
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ...	ORPHA:54370
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Lymphadenop...	OMIM:618261
Desmosterolosis	Increased bone mineral density, Severe short stature, Renal agenesis, Abnormal cortical gyration,...	ORPHA:35107
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Proteinuria, Abnormality of the kidney, Short stature, Hyperlipidemia, Osteoporosis, ...	ORPHA:369
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis	OMIM:614156
Ck Syndrome	Abnormal digit morphology, Abnormal cortical bone morphology, Pachygyria, Slender build, Polymicr...	OMIM:300831
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,...	OMIM:611762
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick...	OMIM:600081
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Albers-Schönberg Osteopetrosis	Osteomyelitis, Short stature, Recurrent fractures, Mandibular osteomyelitis, Generalized osteoscl...	ORPHA:53
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye...	OMIM:264700
Immunodeficiency 27B	Generalized lymphadenopathy, Salmonella osteomyelitis, Osteomyelitis	OMIM:615978
Gitelman Syndrome	Prolonged QT interval, Polyuria, Renal magnesium wasting, Ventricular tachycardia, Growth delay, ...	OMIM:263800
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus...	ORPHA:210110
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Hematochezia,...	OMIM:618183
Spondyloepiphyseal Dysplasia Tarda	Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e...	ORPHA:93284
North American Indian Childhood Cirrhosis	Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice	OMIM:604901
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Increased bone mineral density, Abnormal left ven...	ORPHA:36913
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Abnormal trabecular bone morphology, Short humerus, Telangiectasia of the...	ORPHA:75508
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Recurrent otitis media, Splenomegaly, Hepatitis, Lymphadenopathy	ORPHA:444463
Spastic Paraplegia-Nephritis-Deafness Syndrome	Severe short stature, Proteinuria, Hypertension, Clinodactyly of the 5th finger, Nephropathy	ORPHA:2820
Melnick-Needles Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Bowing of the long bones, Short statur...	ORPHA:2484
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Stage 5 chronic kidney...	OMIM:166300
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c...	ORPHA:69126
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Peroxisome Biogenesis Disorder 12A (Zellweger)	Short stature, Patent ductus arteriosus, Renal tubular dysfunction, Growth delay, Hyperbilirubine...	OMIM:614886
Metatropic Dysplasia	Severe short stature, Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral o...	ORPHA:2635
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Hereditary Sensory And Autonomic Neuropathy Type 2	Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis...	ORPHA:970
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, In...	OMIM:209950
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Polyhydramnios, Edema, Renal salt ...	OMIM:613090
Immunodeficiency, Common Variable, 1	Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphadenopathy, Decreased circulat...	OMIM:607594
Immunodeficiency 109 With Lymphoproliferation	Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Decreased circula...	OMIM:620282
Pyle Disease	Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Limited e...	OMIM:265900
Caudal Duplication	Myelomeningocele, Spinal cord lesion, Spina bifida	ORPHA:1756
Primary Hyperoxaluria	Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Heart block, Gener...	ORPHA:416
Pseudohypoparathyroidism Type 1C	Prolonged QT interval, Calcinosis, Increased bone mineral density, Short metacarpal, Short fifth ...	ORPHA:79444
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly...	ORPHA:166277
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia	OMIM:207950
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Short stature, Polyuria, Renal salt wasting, Hypertension, Hypokalemia, Enuresis, Increased circu...	OMIM:612780
Schisis Association	Encephalocele, Anencephaly, Spina bifida	ORPHA:63862
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:613470
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Hypocalcemic Vitamin D-Dependent Rickets	Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, ...	ORPHA:289157
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste...	OMIM:607634
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Pseudohypoparathyroidism Type 1B	Prolonged QT interval, Calcinosis, Increased bone mineral density, Short stature, Cortical subper...	ORPHA:94089
Gaucher Disease Type 3	Increased bone mineral density, Mitral valve calcification, Abnormal heart valve morphology, Prot...	ORPHA:77261
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Ventricular septal defect, Recurrent f...	ORPHA:1782
Pseudopseudohypoparathyroidism	Short stature, Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Hyperphosphatem...	ORPHA:79445
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease, Obesity, Brachydactyly	OMIM:615995
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:256100
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Polyhydramnios, Hypercalciuria, Hypochloremia, Hypokalemia, Increased cir...	OMIM:300971
Preeclampsia/Eclampsia 1	Hypertension, Proteinuria, Edema, Intrauterine growth retardation	OMIM:189800
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Flared metaphysi...	OMIM:259700
Immunodeficiency 52	Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphadenopathy, Decreased circulating antibod...	OMIM:617514
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Hypercalcemia, Recurrent fractures, Polyuria, Hypercalciuria, Amin...	OMIM:239200
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synostosis of carpa...	ORPHA:90652
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:613101
Type 1 Diabetes Mellitus	Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Activated Pi3K-Delta Syndrome	Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Decreased circul...	ORPHA:397596
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Bardet-Biedl Syndrome 14	Renal insufficiency, Polydactyly, Obesity	OMIM:615991
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Pedal edema, Hypertension,...	ORPHA:84090
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Renal insufficiency, Abnormal pericardium morpholo...	ORPHA:35687
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis	OMIM:235700
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricu...	OMIM:615996
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Mediastinal lymphadenopathy, Decreased specific anti-polysaccharide antibody level,...	OMIM:300853
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Cervical lymphadenopathy, Decreased circulating IgG level	OMIM:618987
Pseudohypoparathyroidism Type 1A	Short metatarsal, Reduced bone mineral density, Hypocalcemia, Hypocalcemic tetany, Broad distal p...	ORPHA:79443
Focal Segmental Glomerulosclerosis 6	Proteinuria, Edema, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis...	OMIM:614131
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Immunodeficiency 64 With Lymphoproliferation	Increased circulating IgA level, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Splenomeg...	OMIM:618534
Schnitzler Syndrome	Arthritis, Increased bone mineral density, Vasculitis	ORPHA:37748
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Follicular hyperplasia, Lymphadenopathy, Decreased circulating...	OMIM:619846
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Proteinuria, Short stature, Cor pulmonale, Nephrotic syndrome, Mucopol...	OMIM:215250
Grant Syndrome	Bowing of the long bones, Short stature, Decreased skull ossification, Joint hyperflexibility, Ab...	ORPHA:2097
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Craniosynostosis, Cardiomegaly	ORPHA:88643
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Short stature, Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Failure to thrive	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Short stature, Polyuria, Megacystis, Hypertonic dehydration, Hypernatremia, Failure to thrive	OMIM:304800
Immunodeficiency 105	Skin rash, Absence of lymph node germinal center, Decreased circulating antibody level, Hepatospl...	OMIM:619924
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal center, Increased...	ORPHA:277
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis	OMIM:300752
Bardet-Biedl Syndrome 10	Renal insufficiency, Polydactyly, Obesity, Renal cyst	OMIM:615987
Hemophagocytic Lymphohistiocytosis, Familial, 4	Skin rash, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy, Conjuncti...	OMIM:603552
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Colitis, Lymphadenopathy	OMIM:619164
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Polyhyd...	OMIM:602522
Cantu Syndrome	Bicuspid aortic valve, Broad hallux, Short hallux, Lymphedema, Cardiomegaly, Large for gestationa...	OMIM:239850
Fanconi Renotubular Syndrome 2	Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Short stature, R...	OMIM:613388
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentration,...	ORPHA:85414
Hyperaldosteronism, Familial, Type Iii	Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Decreased circulating renin level	OMIM:613677
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye...	OMIM:277440
Aplasia Cutis Congenita	Spinal dysraphism	ORPHA:1114
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Short stature, Stage 5 chronic kidney disease, Obesity, Rena...	OMIM:615993
Cranio-Osteoarthropathy	Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation of finger...	ORPHA:1525
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Mycosis Fungoides	Psoriasiform dermatitis, Eczema, Lymphadenopathy	OMIM:254400
Gaucher Disease	Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Hydrops fetali...	ORPHA:355
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Severe short stature, High iliac wing, Aortic valve stenosis, Ost...	ORPHA:2780
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Focal Segmental Glomerulosclerosis 1	Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Hypertension, Focal segmental...	OMIM:603278
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Increased bone mineral density, Renal insufficiency, Calcium oxalate nephrolithias...	OMIM:259900
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ...	ORPHA:85184
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Nephrotic Syndrome, Type 2	Proteinuria, Edema, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:600995
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Hypertension, Microscopic hematuria	ORPHA:2613
Preeclampsia	Increased body mass index, Small for gestational age, Abnormality of the kidney, Proteinuria, Chr...	ORPHA:275555
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Recurrent fractures, Growth delay, Osteopetrosis, Petechiae	OMIM:611490
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Bronchiectasis, Absence of lymph node germinal center	OMIM:608184
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Proteinuria, Camptodactyly of finger, Cachexia, Polyhydramnios, Limitation of joint mobility, Ost...	ORPHA:2774
Renal Hypoplasia, Bilateral	Hyponatremia, Small for gestational age, Proteinuria, Edema, Microscopic hematuria, Short stature...	ORPHA:97362
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Tularemia	Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology, Cervical lymp...	ORPHA:3392
Autoimmune Lymphoproliferative Syndrome, Type Iii	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy...	OMIM:615559
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Polyhydramnios, Micromelia, Coxa vara, Wrist ...	ORPHA:800
Mast Cell Sarcoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ...	OMIM:166600
Arima Syndrome	Proteinuria, Polyuria, Postaxial hand polydactyly, Growth delay, Stage 5 chronic kidney disease, ...	OMIM:243910
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria	ORPHA:419
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Edema, Osteolysis involving bones of ...	ORPHA:73
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy	ORPHA:100083
Nephrotic Syndrome, Type 9	Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbum...	OMIM:615573
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Lymphadenopathy	ORPHA:158014
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures,...	ORPHA:3409
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Short stature, Bowing of the legs, Elevated circulating creatinine concentrati...	OMIM:615605
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
Werner Syndrome	Renal neoplasm, Increased bone mineral density, Telangiectasia of the skin, Rocker bottom foot, M...	ORPHA:902
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Bronchiectasis, Lymphadenopath...	OMIM:616100
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Proteinuria, Short stature, Cardiomegaly, Facia...	OMIM:256550
Generalized Eruptive Histiocytosis	Maculopapular exanthema, Lymphadenopathy	ORPHA:157991
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ...	OMIM:144750
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Abnormal circulati...	OMIM:307800
Immunodeficiency 103, Susceptibility To Fungal Infections	Chronic oral candidiasis, Increased circulating IgE level, Lymphadenopathy	OMIM:212050
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Zttk Syndrome	Aortic regurgitation, Ventricular septal defect, Polyuria, Craniosynostosis, Unilateral renal age...	OMIM:617140
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening, Short metatarsal, ...	OMIM:251450
Joubert Syndrome 15	Exencephaly	OMIM:614464
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhyth...	ORPHA:225
Lethal Congenital Contracture Syndrome Type 1	Short stature, Recurrent fractures, Polyhydramnios, Limitation of joint mobility, Slender long bo...	ORPHA:1486
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Arachnodactyly, Minimal chan...	OMIM:616730
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Claw hand deformity, Elevated circulating creatine kinase concentration, Proteinuria, Stage 5 chr...	OMIM:614455
Pfapa Syndrome	Splenomegaly, Infectious encephalitis, Arthritis, Lymphadenopathy	ORPHA:42642
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Mu-Heavy Chain Disease	Splenomegaly, Increased circulating antibody level, Lymphadenopathy	ORPHA:100024
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Craniosynostosis, Patent d...	ORPHA:171839
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Atrial fibrillation, Proteinuria, Recurrent urinary tract infections, Dysuri...	ORPHA:976
Alpha-Heavy Chain Disease	Splenomegaly, Dysgammaglobulinemia, Lymphadenopathy	ORPHA:100025
Pycnodysostosis	Joint laxity, Increased bone mineral density, Rhizomelia, Overweight, Generalized osteosclerosis,...	ORPHA:763
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Short stature, Osteopetrosis, Decreased body weight, Clinodactyly...	OMIM:617306
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Short stature, Polyhydramnios, Growth delay, Osteopetrosis, Reduced renal corticomedullary differ...	OMIM:618541
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,...	OMIM:250220
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Bone cyst	ORPHA:2668
Aicardi-Goutieres Syndrome 9	Edema, Hypoalbuminemia, Micropenis, Portal hypertension, Pericardial effusion, Osteoporosis, Thic...	OMIM:619487
Cystinosis	Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Rickets, Dehydration, Renal...	ORPHA:213
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short stature, Short toe, Osteoporosis, Obesity, Short metatarsal, Subcutaneous...	OMIM:103580
Nephrosialidosis	Renal insufficiency, Pericardial effusion, Nephrotic syndrome, Nephropathy, Ascites	OMIM:256150
12Q14 Microdeletion Syndrome	Short stature, Ectopic kidney, Osteopoikilosis, Renal hypoplasia, Horseshoe kidney, Clinodactyly ...	ORPHA:94063
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Lymphocytic interstitial pneumonia, Splenomegaly, Lymphadenopathy, Increased circulating IgG leve...	OMIM:618495
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Edema, Pericardial effusion, Metaphyseal sclerosi...	ORPHA:2905
Summitt Syndrome	Syndactyly, Obesity, Craniosynostosis	OMIM:272350
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Edema, Proteinuria	OMIM:614652
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Atrial septal defect, Clinodactyly of the 5th ...	OMIM:201000
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:613944
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Patent ductus arteriosus, Postax...	ORPHA:65759
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Flexion contracture, X...	ORPHA:220393
Galloway-Mowat Syndrome 6	Proteinuria, Short stature, Growth delay, Nephrotic syndrome, Focal segmental glomerulosclerosis,...	OMIM:618347
Proteus Syndrome	Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex	OMIM:176920
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca...	OMIM:619638
Metachromatic Leukodystrophy	Gallbladder dysfunction, Cholecystitis	OMIM:250100
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Patent foramen ovale, C...	ORPHA:60041
Isolated Klippel-Feil Syndrome	Spina bifida	ORPHA:2345
Free Sialic Acid Storage Disease	Failure to thrive in infancy, Proteinuria, Hydrops fetalis, Reduced bone mineral density, Nephrot...	ORPHA:834
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s...	OMIM:134600
Beta-Mercaptolactate Cysteine Disulfiduria	Arachnodactyly, Sandal gap, Micromelia, Short stature, Abnormality of the ureter, Obesity, Genu v...	ORPHA:1035
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Disproportionate short stature, Abnormal ...	OMIM:224300
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:86893
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Dysostosis, Stanescu Type	Increased bone mineral density, Bowing of the long bones, Short stature, Micromelia, Abnormal epi...	ORPHA:1798
Macrophage Activation Syndrome	Increased inflammatory response, Increased circulating interleukin 6 concentration, Elevated circ...	ORPHA:158061
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Genu valgum, Hypertension, Glycosuria, Aminoaciduria...	OMIM:618913
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,...	OMIM:616818
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Absent peripheral lymph nodes in presence of infection, Abnormal immunoglobulin level, In...	ORPHA:98813
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Short stature, Cranial hyperostosis, Flared metaphysis, Growth de...	OMIM:259720
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta...	OMIM:603965
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Bronchiectasis, Ato...	ORPHA:436159
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Obesity, Genu valgum, Short palm, C...	ORPHA:3210
Fountain Syndrome	Facial edema, Spina bifida occulta, Spina bifida	ORPHA:3219
Camptodactyly Syndrome, Guadalajara Type 1	Spina bifida	ORPHA:1327
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Severe short stature, Small for gesta...	OMIM:127000
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphadenopathy, Recurrent aphthous stomatitis...	OMIM:150550
Heme Oxygenase 1 Deficiency	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	OMIM:614034
Desmosterolosis	Failure to thrive, Rhizomelia, Generalized osteosclerosis, Patent ductus arteriosus, Abnormal cir...	OMIM:602398
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Senior-Loken Syndrome 9	Osteopenia, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Obesity, Tubulointers...	OMIM:616629
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht...	OMIM:606966
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Finger syndactyly, Increased bone mineral density, Severe short statur...	ORPHA:2658
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short stature, Osteoporosis, Obesity, Short metatarsal, Hyperphosphatemia, Hypo...	OMIM:612462
Dent Disease 2	Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc...	OMIM:300555
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Postnatal growth retardation, Small hand, Short foot, Hyperphosphatemia, H...	OMIM:241410
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Osteoporosis, Increased body weight, Hypertension, Abdominal ob...	OMIM:615954
Cinca Syndrome	Skin rash, Elevated circulating C-reactive protein concentration, Uveitis, Lymphadenopathy, Hepat...	OMIM:607115
Hepatic Veno-Occlusive Disease	Renal insufficiency, Ascites, Increased body weight, Increased total bilirubin	ORPHA:890
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont...	OMIM:259600
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna	OMIM:231095
Lymphoproliferative Syndrome, X-Linked, 1	Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Fulmin...	OMIM:308240
Nephrotic Syndrome, Type 17	Proteinuria, Short stature, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M...	OMIM:618176
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Short stature, Limitation of joint mobility, Hypertension, Nephrotic syndrome, Abnor...	ORPHA:1192
Rhizomelic Limb Shortening With Dysmorphic Features	Hyperextensibility of the finger joints, Rhizomelia, Short thumb, Obesity, Limited shoulder movem...	OMIM:618821
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa...	OMIM:112250
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Arachnodactyly, Short stature, Minimal change glomerulonephritis, Stage 5 chronic ki...	OMIM:301006
Iniencephaly	Encephalocele, Spina bifida, Polyhydramnios, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal...	ORPHA:63259
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Hypouricemia, Proteinuria, Short stature, Large for gestational age, Rickets, ...	OMIM:616026
Anophthalmia Plus Syndrome	Spina bifida	ORPHA:1104
Craniofaciofrontodigital Syndrome	Osteopenia, Bicuspid aortic valve, Edema, Large for gestational age, Polyhydramnios, Cardiomegaly...	ORPHA:363705
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Iga Nephropathy, Susceptibility To, 1	IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hyperte...	OMIM:161950
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:266200
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Elevated circulating C-reactive protein concentration, Edema, Abnormal sacroiliac ...	ORPHA:324964
Raine Syndrome	Increased bone mineral density, Hydroureter, Bowing of the long bones, Short stature, Micromelia,...	OMIM:259775
Williams Syndrome	Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc...	ORPHA:904
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Large for gestational age, Pa...	OMIM:615398
Al Amyloidosis	Increased circulating NT-proBNP concentration, Xerostomia, Hypoalbuminemia, Abnormal EKG, Abnorma...	ORPHA:85443
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Small for gestat...	OMIM:256300
Nephrotic Syndrome, Type 6	Proteinuria, Edema, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segm...	OMIM:614196
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc...	OMIM:308990
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Hypospadias, Short metatarsal, Advanced ossification of carpal bones, Obesity, ...	OMIM:614613
Phakomatosis Pigmentokeratotica	Raynaud phenomenon, Arrhythmia, Spina bifida, Lymphedema	ORPHA:2874
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Hallux valgus, Ventricular septal defect, Proteinuria, Edema, Minima...	OMIM:618348
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Joint hypermobility, Recurrent fractures, Femoral bowing,...	OMIM:617952
Helix Syndrome	Renal insufficiency, Polyuria, Hypermagnesemia, Xerostomia, Nephrolithiasis, Hypokalemia, Hypocal...	OMIM:617671
Lymphoproliferative Syndrome 2	Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Hepatosplenomegaly, Lymphadenopathy...	OMIM:615122
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Short stature, Coxa valga, Disproportionate short stature, Advanced ossification...	OMIM:618363
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:613550
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Hypouricemia, Osteomalacia, Proteinuria, Postnatal growth retardati...	OMIM:227810
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida	ORPHA:2437
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Camurati-Engelmann Disease	Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Cortical thickening of long bo...	OMIM:131300
Classic Mycosis Fungoides	Splenomegaly, Skin rash, Eczema, Lymphadenopathy	ORPHA:2584
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Proteinuria, Conjugated hyperbilirubinemia, Nephropathy, Nephrocalcino...	OMIM:613404
Neu-Laxova Syndrome 2	Polyhydramnios, Spina bifida, Edema	OMIM:616038
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentration, Osteopor...	ORPHA:264580
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly	ORPHA:1908
Combined Oxidative Phosphorylation Deficiency 10	Small for gestational age, Cardiomegaly, Pericardial effusion, Hyperammonemia, Ascites, Pleural e...	OMIM:614702
Systemic Capillary Leak Syndrome	Pericarditis, Renal insufficiency, Abnormal renal tubule morphology, Myocarditis, Oliguria, Pedal...	ORPHA:188
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Polyhydra...	ORPHA:50945
Focal Segmental Glomerulosclerosis 5	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi...	OMIM:613237
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Periventricular heterotopia, Increased skull ossification, Craniofacial osteosclerosis, Metaphyse...	OMIM:618476
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis	OMIM:607832
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental ...	OMIM:610725
Distal Triplication 15Q	Arachnodactyly, Abnormality of the kidney, Craniosynostosis, Large for gestational age, Birth len...	ORPHA:314588
Osteopetrosis, Autosomal Recessive 2	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc...	OMIM:259710
Pseudopseudohypoparathyroidism	Short metacarpal, Short stature, Short metatarsal, Osteoporosis, Obesity, Brachydactyly	OMIM:612463
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic mucocutaneous c...	ORPHA:911
Leukocyte Adhesion Deficiency, Type Iii	Splenomegaly, Abnormal lymph node morphology, Recurrent skin infections, Hepatosplenomegaly	OMIM:612840
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Abnormal fe...	ORPHA:324
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Oculodentodigital Dysplasia	Finger syndactyly, Neurogenic bladder, Toe syndactyly, Ventricular septal defect, Camptodactyly o...	ORPHA:2710
Sanjad-Sakati Syndrome	Hypoplasia of penis, Short stature, Patchy osteosclerosis, Postnatal growth retardation, Small ha...	ORPHA:2323
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis	ORPHA:1522
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Spina bifida	ORPHA:1120
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Lymphedema, Periorbital edema, Ectopic kidney, Cutaneous finge...	OMIM:235510
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Dehydration, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouric...	ORPHA:3337
Pseudomyxoma Peritonei	Inflammation of the large intestine, Lymphadenopathy	ORPHA:26790
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Postnatal growth retardation, Acromicria, Small hand, Obesity, Abnormal heart morphology, Short f...	ORPHA:254525
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentratio...	ORPHA:263455
Waardenburg Syndrome Type 1	Meningocele, Spina bifida	ORPHA:894
Schimke Immunoosseous Dysplasia	Osteopenia, Renal insufficiency, Small for gestational age, Transient ischemic attack, Proteinuri...	OMIM:242900
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Short stature, Micro...	OMIM:613848
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Edema, Pulmonary edema	OMIM:178400
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis, ...	OMIM:204690
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Ventricular tachycardia,...	ORPHA:159
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Proteasome-Associated Autoinflammatory Syndrome 2	Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C-reactive protein concent...	OMIM:618048
Tricho-Dento-Osseous Syndrome	Finger clinodactyly, Increased bone mineral density	ORPHA:3352
Indolent Systemic Mastocytosis	Skin rash, Splenomegaly, Maculopapular exanthema, Lymphadenopathy	ORPHA:98848
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ...	ORPHA:542323
Wild Type Attr Amyloidosis	Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ...	ORPHA:330001
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Osteogenesis Imperfecta	Osteopenia, Micromelia, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Abnormal ...	ORPHA:666
Burkitt Lymphoma	Abnormality of the spleen, Abnormal lymph node morphology	ORPHA:543
Proximal Renal Tubular Acidosis	Mild postnatal growth retardation, Bicarbonaturia, Dehydration, Reduced bone mineral density, Nep...	ORPHA:47159
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Recurrent fractures, Cranio...	ORPHA:251004
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Increased ...	ORPHA:540
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Pneumonia, Erythema nodosum, Splenomegaly, Recur...	OMIM:614700
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Eczema, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent tonsillitis,...	OMIM:618935
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Hypospadias...	ORPHA:254346
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Increased circulating IgA level, Absence of lymph node germinal center, Spl...	OMIM:308230
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Short stature, Bifid distal phalanx of the thumb, Overweight, Triangular shaped di...	ORPHA:370010
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, In...	OMIM:602080
Immunodeficiency 97 With Autoinflammation	Recurrent skin infections, Eczema, Increased circulating ferritin concentration, Mediastinal lymp...	OMIM:619802
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Atypical Werner Syndrome	Sclerosis of hand bone, Reduced bone mineral density, Finger clinodactyly, Short palm, Renal neop...	ORPHA:79474
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Edema, Chronic kidney disease, Stage 5 chronic kidney d...	OMIM:615244
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea...	OMIM:620300
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo...	ORPHA:249
Boutonneuse Fever	Maculopapular exanthema, Skin rash, Cervical lymphadenopathy, Lymphadenopathy, Increased circulat...	ORPHA:83313
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Lymphadenopathy, Hepa...	OMIM:619750
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Decreased serum creatinine, A...	ORPHA:54057
Weill-Marchesani Syndrome 1	Ventricular septal defect, Short stature, Proportionate short stature, Joint stiffness, Broad met...	OMIM:277600
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Myocardial infarction, Overweight, Cranial hyperostosis, Hip dysplasia, Micropenis	ORPHA:457240
Distal Renal Tubular Acidosis	Hypocitraturia, Dehydration, Reduced bone mineral density, Renal cyst, Nephrocalcinosis, Aminoaci...	ORPHA:18
Nail-Patella Syndrome	Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, K...	ORPHA:2614
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Pachydermoperiostosis	Gastrointestinal hemorrhage, Osteomyelitis, Edema, Limitation of joint mobility, Osteoporosis, Os...	ORPHA:2796
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Osteopetrosis	OMIM:615085
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsi...	ORPHA:2686
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Hydrops Fetalis	Small for gestational age, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial eff...	ORPHA:1041
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ...	ORPHA:439232
Amyloidosis, Familial Visceral	Proteinuria, Edema, Hematuria, Hypertension, Nephrotic syndrome, Nephropathy	OMIM:105200
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Int...	ORPHA:90291
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Arachnodactyly, Edema, Short stature, Pachygyria, Hip d...	OMIM:617729
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Renal insufficiency, Epistaxis, Conges...	ORPHA:727
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra...	OMIM:300106
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Glomerulonephritis, Thyroiditis, Lymphadenopathy	OMIM:619375
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis...	ORPHA:470
Morgagni-Stewart-Morel Syndrome	Osteoarthritis, Osteoporosis, Obesity, Hypertension, Hyperostosis frontalis interna, Hyperuricemi...	ORPHA:77296
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Biliary t...	ORPHA:100086
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Classic Hodgkin Lymphoma	Splenomegaly, Skin rash, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Smith-Magenis Syndrome	Hypertriglyceridemia, Short stature, Abnormal renal morphology, Increased body weight, Abnormal h...	OMIM:182290
15Q24 Microdeletion Syndrome	Joint laxity, Small for gestational age, Hypospadias, Proximal placement of thumb, Short stature,...	ORPHA:94065
Sirenomelia	Spina bifida, Sirenomelia	ORPHA:3169
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect, Proteinuria, Sagittal craniosynostosis, Short stature, Hematuria, Tubu...	OMIM:616901
Pycnodysostosis	Increased bone mineral density, Short stature, Aplastic clavicle, Osteolytic defects of the dista...	OMIM:265800
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Congestive heart failure, Myocarditis, Hypovolemia, Abnormal b...	ORPHA:31824
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Short stature, Conjugated hyperbilirubi...	OMIM:208500
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Bowing of the long bones, Short stature, Recurrent fra...	ORPHA:3206
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Splenomegaly, Increased circulatin...	OMIM:602450
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Large for gestational age, Decreased circulating free fatty acid level, Syncope, Pal...	ORPHA:276556
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Short stature, Overweight, Flexion contracture, ...	OMIM:616222
Leishmaniasis	Splenomegaly, Lymphadenopathy, Rhinitis, Hypoalbuminemia, Increased circulating antibody level	ORPHA:507
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Gastrointestinal hemorrhage, Decreased HD...	ORPHA:85450
Lujo Hemorrhagic Fever	Shock, Generalized edema, Stiff neck, Renal insufficiency, Elevated circulating C-reactive protei...	ORPHA:319213
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Ventricular septal defec...	ORPHA:33364
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Extrahepatic cholestasis, Inter...	ORPHA:97283
Lymphoproliferative Syndrome 1	Elevated circulating C-reactive protein concentration, Increased circulating ferritin concentrati...	OMIM:613011
Glycogen Storage Disease Ia	Abnormal bleeding, Proteinuria, Short stature, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gou...	OMIM:232200
Teratoma, Pineal	Polyuria	OMIM:273120
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Growth delay, Increased circulating ferritin concentration, Osteopetrosis	ORPHA:3240
Juvenile Nephropathic Cystinosis	Dehydration, Abnormal long bone morphology, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, ...	ORPHA:411634
Osteootohepatoenteric Syndrome	Proteinuria, Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Grade II v...	OMIM:619377
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T...	ORPHA:228308
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Pericarditis, Proteinuria, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Fl...	OMIM:212065
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Short stature, Elevated circulating creatine kinase concentration, Postnata...	ORPHA:79240
Immunodeficiency 7	Recurrent otitis media, Splenomegaly, Chronic oral candidiasis, Lymphadenopathy	OMIM:615387
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Rhizomelia, Short iliac bones, Short stature, Metaphyseal wideni...	OMIM:614376
Osteopetrosis, Autosomal Recessive 3	Short stature, Cranial hyperostosis, Diaphyseal sclerosis, Osteopetrosis, Distal renal tubular ac...	OMIM:259730
Beemer-Ertbruggen Syndrome	Increased bone mineral density	ORPHA:1237
Fish-Eye Disease	Splenomegaly, Lymphadenopathy	ORPHA:79292
Renal Hypoplasia	Renal insufficiency, Recurrent urinary tract infections, Small for gestational age, Proteinuria, ...	ORPHA:93101
Pelvis-Shoulder Dysplasia	Hydranencephaly, Hydrocephalus, Spina bifida	ORPHA:2839
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Edema, Minimal change glomerulonephritis, ...	ORPHA:656
Roifman Syndrome	Eczema, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody ...	ORPHA:353298
Kaposiform Lymphangiomatosis	Abnormal bleeding, Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphol...	ORPHA:464329
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria, Arthritis, Purpura	ORPHA:375
Weill-Marchesani Syndrome 2	Short metacarpal, Ventricular septal defect, Short stature, Proportionate short stature, Joint st...	OMIM:608328
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo...	OMIM:619155
Oligomeganephronia	Branchial cyst, Renal insufficiency, Small for gestational age, Proteinuria, Unilateral renal age...	ORPHA:2260
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morphology, Nephro...	ORPHA:85445
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Large for gestational age, Decreased circulating free fatty acid level, Syncope, Pal...	ORPHA:276575
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Short metacarpal, Small for gestatio...	ORPHA:221008
Peripartum Cardiomyopathy	Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilatation, Abn...	ORPHA:563
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Acetabular dysplasia, Congestive heart failure, Patent ductus arteriosus, Flexion co...	OMIM:617303
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid...	ORPHA:2502
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, P...	ORPHA:71212
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Elevated circulating C-reactive protein concentration, Abnor...	ORPHA:54251
Cleidocranial Dysplasia 1	Increased bone mineral density, Hypoplastic scapulae, Short stature, Aplastic clavicle, Short mid...	OMIM:119600
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hyperlipidemia, Osteoporosis, Increased body weight, Nephrolith...	ORPHA:189427
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Increased circulating IgA level, Follicular hyperplasia, S...	OMIM:603909
Schimke Immuno-Osseous Dysplasia	Nephropathy, Intrauterine growth retardation, Nephrotic range proteinuria, Short stature, Minimal...	ORPHA:1830
Pituitary Adenoma 4, Acth-Secreting	Edema, Osteoporosis, Obesity, Nephrolithiasis, Hypertension, Abdominal obesity, Hypokalemia, Ecch...	OMIM:219090
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Recurrent urinary tract infections, Small for gestational age, Short st...	OMIM:613658
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect, Short stature, Postaxial hand polydactyly, Chronic kidney disease, Obe...	OMIM:615630
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Arachnodactyly, Chronic kidney disease, O...	ORPHA:261222
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Small for gestational age, Elevated circulating creatine kina...	ORPHA:26793
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Hypospadias, Short stature, Proximal placement of thumb, Tapered finger, Pa...	ORPHA:251071
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Delayed epiphyseal ossification, Bradycardia, Abnormal epiphysis morph...	ORPHA:226313
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Short metacarpal, Small for gestatio...	ORPHA:221016
Bardet-Biedl Syndrome 8	Hypospadias, Postaxial polydactyly, Situs inversus totalis, Obesity, Renal dysplasia	OMIM:615985
Amish Lethal Microcephaly	Spina bifida	ORPHA:99742
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Bicuspid aortic valve, Short stature, Tapered finger, Overweight, Dilated c...	ORPHA:401923
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal pulmonary valve morphol...	ORPHA:667
Mosaic Trisomy 9	Spina bifida, Hydrops fetalis, Polyhydramnios, Oligohydramnios	ORPHA:99776
Chromosome 17P13.1 Deletion Syndrome	Umbilical hernia, Hydrocephalus, Spina bifida, Oligohydramnios	OMIM:613776
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Pseudo-Torch Syndrome 3	Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Hyp...	OMIM:618886
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule...	ORPHA:839
Cholera	Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Dehy...	ORPHA:173
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Coxa valga, Patent ductus arteriosus, Limb undergrowth, Failure to thrive, Thin ...	OMIM:230600
Adult-Onset Still Disease	Pericarditis, Generalized lymphadenopathy, Skin rash, Elevated circulating C-reactive protein con...	ORPHA:829
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Edema, Mesangial hypercellularity...	OMIM:617575
Sézary Syndrome	Erythroderma, Splenomegaly, Lymphadenopathy, Abnormal immunoglobulin level	ORPHA:3162
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Congestive h...	ORPHA:31826
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Increased circulating antibody level, Follicular hyperplasia	OMIM:614470
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis, Lymphadenopa...	ORPHA:47612
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Mitral stenosis, Tethered cord, Aortic valve stenosis, Spinal dysraphism	OMIM:617660
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Myositis, Panniculitis, Lymphadenopathy	OMIM:619183
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Hypoplasia of the ulna, Small for ge...	ORPHA:2909
Lysinuric Protein Intolerance	Hypolysinemia, Recurrent fractures, Short stature, Increased circulating ferritin concentration, ...	OMIM:222700
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Patent ductus arteriosus, Obes...	ORPHA:369837
Fabry Disease	Renal insufficiency, Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedem...	OMIM:301500
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Obesity, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PT...	OMIM:603233
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Osteoporosis, Increased body weight, Hypertension, Bruising susceptibility	OMIM:615830
Pde4D Haploinsufficiency Syndrome	Joint laxity, Short metacarpal, Hypospadias, Broad hallux, Postnatal growth retardation, Short to...	ORPHA:439822
Immunodeficiency 98 With Autoinflammation, X-Linked	Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Recurrent aphthous stomatitis, Chroni...	OMIM:301078
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Sacral Defect With Anterior Meningocele	Myeloschisis, Tethered cord, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Hy...	OMIM:600145
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Short stature, Tapered f...	OMIM:617730
Osteopetrosis With Renal Tubular Acidosis	Short stature, Recurrent fractures, Elevated circulating creatine kinase concentration, Distal re...	ORPHA:2785
Cerebrocostomandibular Syndrome	Hydranencephaly, Myelomeningocele, Meningocele, Spina bifida	ORPHA:1393
Noonan Syndrome 8	Left ventricular hypertrophy, Ventricular septal defect, Polyhydramnios, Large for gestational ag...	OMIM:615355
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Micropenis, Osteoporosis, Obesity	OMIM:610628
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Skin rash, Elevated circulating C-reactive protein concentration, Increased circulating IgA level...	OMIM:617099
Spondyloocular Syndrome	Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Lymphedema, Short stature,...	OMIM:605822
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Increased density of long bones, Hypospadias, Hydroureter, Wide distal femoral...	OMIM:269150
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Elevated circulating creatine kinase concentration, Achilles tendon contracture, Obesity, Heart m...	OMIM:615418
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Cheilitis, Lymphadenopathy	ORPHA:2483
Frank-Ter Haar Syndrome	Osteopenia, Secundum atrial septal defect, Short palm, Atrial septal defect, Short phalanx of fin...	OMIM:249420
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Membranoproliferative glomerulonephritis, Renal insuff...	ORPHA:91139
Sepsis In Premature Infants	Abnormal bleeding, Tachycardia, Small for gestational age, Edema, Elevated circulating C-reactive...	ORPHA:90051
Myh9-Related Disease	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myoc...	ORPHA:182050
Roifman Syndrome	Eczema, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Recurrent otitis media	OMIM:616651
Scrub Typhus	Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Infectious encephalitis	ORPHA:83317
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Increased circulating IgA level, S...	OMIM:601859
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Proportionate short stature, Short toe, Obesity, Cone-shaped epiphyses of the phalang...	OMIM:619269
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Psoriasiform dermatitis, Eczema, Increased circulating IgE level, Decre...	OMIM:606367
Pleural Mesothelioma	Lymphadenopathy	ORPHA:50251
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis, Panniculitis, Increased...	OMIM:617591
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Short stature, Tapered finger, Hip dislocation, Obesity, De...	OMIM:618395
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Proteinuria, Short stature, Micromelia, Ulnar bowing, Hematuria, Aplasia/Hypoplasi...	ORPHA:1765
Omenn Syndrome	Pneumonia, Splenomegaly, Lymphadenopathy, Hypoplasia of the thymus, Erythroderma, Hypoproteinemia	OMIM:603554
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ...	OMIM:309000
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Rickets, Abnormal blood ion concentration, Dehydration, Abnormal tubulointerst...	ORPHA:411629
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Bifid femur, Increased susceptibility to fractures, Hyper...	ORPHA:2769
Vacterl With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Spina bifida, Polyhydramnios	ORPHA:3412
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Epiphyseal stippling, Small for gestational age, Increased body weight	OMIM:274300
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Lymphadenopathy, Tubulointerstitial neph...	ORPHA:139402
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, R...	ORPHA:331235
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczema, Glomerulonephritis, Increased circulating IgE level, Hepatitis, Lymphadenopathy, Arthriti...	OMIM:304790
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Transient ischemic atta...	ORPHA:183
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Tapered finger, Generalized joint laxity, Increased body weight, 2-3 toe syndactyly, Clinodactyly...	ORPHA:589905
Immunodeficiency 91 And Hyperinflammation	Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated circulating C-reactiv...	OMIM:619644
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Myocarditis, Metaphyseal chondrodysplasia, Disproportion...	ORPHA:93317
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, Pericardial ef...	ORPHA:36412
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, First degree atrioventricular block, Polyhydramnios, Patent ductus arteriosu...	ORPHA:589821
Bardet-Biedl Syndrome 9	Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Post...	OMIM:615986
Camurati-Engelmann Disease	Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ulna, Cachexia, ...	ORPHA:1328
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Hypertension, Renal tu...	OMIM:610205
Wilson Disease	Decreased circulating ceruloplasmin concentration, Edema, Osteoarthritis, Pedal edema, Aminoacidu...	OMIM:277900
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Proteinuria, Abnormal cardiovascular system physiology, Unicameral bone cys...	ORPHA:79086
Diabetic Embryopathy	Hydrocephalus, Spinal dysraphism	ORPHA:1926
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei...	ORPHA:247353
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Pulmonary embolism, Facial edema, Minimal change glomerulonephritis, Hype...	ORPHA:567546
Trisomy 20P	Umbilical hernia, Spina bifida	ORPHA:261318
Thyroid Lymphoma	Hashimoto thyroiditis, Lymphadenopathy	ORPHA:97285
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Increased circulating IgA level, Increased circulating IgE level, Hepatosplenomegaly, Lymphadenop...	ORPHA:169154
Trisomy 18	Anencephaly, Holoprosencephaly, Spina bifida, Oligohydramnios	ORPHA:3380
Periodic Fever, Familial, Autosomal Dominant	Myositis, Skin rash, Maculopapular exanthema, Cervical lymphadenopathy, Oligoarthritis, Conjuncti...	OMIM:142680
Pagod Syndrome	Encephalocele, Spina bifida, Sudden cardiac death, Meningocele, Arrhythmia	ORPHA:991
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Congenital Toxoplasmosis	Lymphadenopathy	ORPHA:858
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Prolonged bleeding following procedure, Nephrocalcinosis, Tubulointerstitial fibrosis...	ORPHA:79259
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati...	ORPHA:98855
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Edema, Pericardial effusion, Raynaud phenomenon, He...	ORPHA:93552
Glycogen Storage Disease Ib	Proteinuria, Short stature, Hyperlipidemia, Osteoporosis, Nephrolithiasis, Gout, Hypertension, Fo...	OMIM:232220
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Hyperimmunoglobulinemia D With Periodic Fever	Increased circulating IgA level, Peritonitis, Lymphadenopathy, Arthritis, Recurrent aphthous stom...	ORPHA:343
American Trypanosomiasis	Skin rash, Splenomegaly, Myocarditis, Lymphadenopathy, Infectious encephalitis	ORPHA:3386
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Growth delay, Osteopetrosis, Hypocalcemic se...	OMIM:612301
Kleefstra Syndrome Due To A Point Mutation	Short stature, Abnormality of the kidney, Large for gestational age, Tapered finger, Vesicoureter...	ORPHA:261652
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Obesit...	ORPHA:552
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Short stature, Perisylvian polymicrogyria, Flared metaphysis, Advanced ossification...	OMIM:610442
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv...	ORPHA:276621
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Proteinuria, Joint stiffness, Heparan sulfate excretion in ...	ORPHA:505248
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Failure to thrive, Ketonuria, Large for gestational age, Aminoaciduria, Umbilical her...	OMIM:614520
Hyper-Igd Syndrome	Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Lymp...	OMIM:260920
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati...	ORPHA:98853
Papillorenal Syndrome	Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Edema,...	OMIM:120330
Momo Syndrome	Short stature, Large for gestational age, Obesity, Femoral bowing, Large hands, Overgrowth, Short...	ORPHA:2563
Sotos Syndrome	Joint laxity, Ventricular septal defect, Abnormality of the kidney, Muscular ventricular septal d...	OMIM:117550
Graft Versus Host Disease	Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga...	ORPHA:39812
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Partial absence of specific antibody response to Haemophilus influen...	OMIM:618986
Griscelli Syndrome	Splenomegaly, Hepatitis, Lymphadenopathy, Decreased circulating antibody level, Bone marrow hypoc...	ORPHA:381
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Edema, Myocarditis, Hyperkalemia, Oliguria, Hypertension, Pleural empyema, ...	ORPHA:544482
Cinca Syndrome	Elevated circulating C-reactive protein concentration, Splenomegaly, Retrobulbar optic neuritis, ...	ORPHA:1451
Sting-Associated Vasculopathy, Infantile-Onset	Myositis, Skin rash, Elevated circulating C-reactive protein concentration, Follicular hyperplasi...	OMIM:615934
Immunodeficiency 54	Splenomegaly, Lymphadenopathy	OMIM:609981
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Mitral valve calcification, Tricuspid regurgitation, Hypertriglyceridemia, Elevated h...	OMIM:619127
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Obesity, Abnormal heart morphology,...	ORPHA:261197
Blue Diaper Syndrome	Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine, Hyperphosphatemia	ORPHA:94086
Deafness-Lymphedema-Leukemia Syndrome	Chronic otitis media, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:3226
Cold Agglutinin Disease	Splenomegaly, Lymphadenopathy	ORPHA:56425
Neu-Laxova Syndrome	Spina bifida, Polyhydramnios	ORPHA:2671
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Postaxial polydactyly, Obesity, Renal hypoplasia, Brachydactyly	OMIM:600151
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Hypercholesterolemia, P...	OMIM:606721
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Knee flexion contracture, Abnormal calcification of the carpal bo...	OMIM:271665
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Hallermann-Streiff Syndrome	Hypertension, Pulmonary arterial hypertension, Spina bifida, Telangiectasia	OMIM:234100
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Short stature, Flexion contracture, Osteoporosis, Increased body weight, Xerostomia, ...	ORPHA:398069
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Tarsal synostosis, Abnormal mo...	ORPHA:1307
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Prader-Willi Syndrome	Osteopenia, Syndactyly, Failure to thrive in infancy, Short stature, Polyhydramnios, Acromicria, ...	OMIM:176270
Triploidy	Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas	ORPHA:3376
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Small for gestational age, Polyhydramnios, Large for gestational age, ...	ORPHA:254534
Galloway-Mowat Syndrome	Proteinuria, Camptodactyly of finger, Short stature, Abnormality of neuronal migration, Nephrotic...	ORPHA:2065
Limb Body Wall Complex	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Abnormal spinal cord morphology, An...	ORPHA:2369
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Tubulointerstitial nephritis, Colitis, Hypoalbuminemia, Psoriasiform dermatitis, Hepati...	ORPHA:37042
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recur...	OMIM:617718
Cutaneous Mastocytoma	Maculopapular exanthema, Lymphadenopathy	ORPHA:79455
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Splenomegaly, Lymphadenit...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Splenomegaly, Lymphadenit...	OMIM:233710
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Small for gestational age, Elevated circulating creatine kinase con...	OMIM:618775
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Nephrot...	OMIM:607426
Pulmonary Non-Tuberculous Mycobacterial Infection	Bronchiectasis, Lymphadenopathy	ORPHA:411703
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Small for gestational age, Proteinuria, Short s...	OMIM:251300
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematu...	ORPHA:91138
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets, Stage 5 chronic kidney disease, Proteinuria	OMIM:219900
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Proteinuria, Arachnodactyly, Simplified gyral pattern, Stage 5 chron...	OMIM:619609
Sclerosteosis 1	Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost...	OMIM:269500
Denys-Drash Syndrome	Proteinuria, Hypertension, Nephrotic syndrome, Nephropathy, Nephroblastoma	ORPHA:220
Glycogen Storage Disease Xii	Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration...	OMIM:611881
Omenn Syndrome	Pneumonia, Splenomegaly, Thyroiditis, Lymphadenopathy, Erythroderma	ORPHA:39041
Hellp Syndrome	Pulmonary edema, Proteinuria, Cerebral hemorrhage, Increased body weight, Hemoglobinuria, Prolong...	ORPHA:244242
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Overweight, Hypovolemia, Obesity, G...	ORPHA:90041
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Pancreatoblastoma	Elevated maternal serum alpha-fetoprotein, Abnormal lymph node morphology	ORPHA:677
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Faciocardiomelic Syndrome	Osteopenia, Large for gestational age, Slender long bone, Polydactyly, Hypoplastic pelvis, Common...	OMIM:612731
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Tapered finger, Patent ductus arteriosus, Abnor...	ORPHA:86818
Legionnaires Disease	Pericarditis, Splenomegaly, Myocarditis, Hepatitis, Endocarditis, Lymphadenopathy, Bone marrow hy...	ORPHA:549
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Tall stature, Short stature, Recurrent fractures, Long f...	OMIM:309583
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Abnormality of the pancreas, Jaundice, Cholecystitis	ORPHA:69665
Focal Dermal Hypoplasia	Umbilical hernia, Telangiectasia of the skin, Spina bifida	ORPHA:2092
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder	ORPHA:2869
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula...	ORPHA:730
Mixed Connective Tissue Disease	Myositis, Pericarditis, Skin rash, Gastritis, Splenomegaly, Mediastinal lymphadenopathy, Myocardi...	ORPHA:809
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Spina bifida, Glenoid fossa hypoplasia, Sho...	OMIM:161200
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ...	OMIM:250420
Hypothyroidism, Congenital, Nongoitrous, 6	Growth delay, Increased body mass index, Congenital hip dislocation, Increased body weight	OMIM:614450
Monosomy 13Q34	Epistaxis, Hypercalcemia, Fetal pyelectasis, Postaxial hand polydactyly, Obesity, Hematochezia, P...	ORPHA:96168
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy...	OMIM:123550
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Splenomegaly, Lymphadenit...	OMIM:233690
Kaposi Sarcoma	Abnormality of the spleen, Generalized lymphadenopathy, Skin rash	ORPHA:33276
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Hallux valgus, Hypertriglyceridemia, Arachnodactyly, Sandal gap, Phalangeal dislocati...	ORPHA:536532
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Broad hallux, Increased body weight, Horseshoe kidney, 2-3 toe syndactyly, Short foot, Micropenis	OMIM:300860
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Avascular necrosis of the capital f...	ORPHA:247691
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Long fibula, Reduced bone mineral density	ORPHA:935
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171420
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida	OMIM:193500
Gamma-Heavy Chain Disease	Splenomegaly, Skin rash, Rheumatoid arthritis, Lymphadenopathy	ORPHA:100026
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Elevated circulating C-reactive protein concentrati...	ORPHA:32960
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Hypoplasia of penis, Ventricular septal defect, Camptodactyly ...	ORPHA:3138
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Castleman Disease	Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Elevated circulat...	ORPHA:160
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Eczema, Splenomegaly, Lymphadenitis, Lymphade...	OMIM:615895
Isolated Posterior Meningocele	Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia,...	ORPHA:268810
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv...	ORPHA:29072
Aymé-Gripp Syndrome	Pericarditis, Proteinuria, Rocker bottom foot, Craniosynostosis, Tapered finger, Pericardial effu...	ORPHA:1272
Bardet-Biedl Syndrome	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short stature, Postaxial ha...	ORPHA:110
Immunodeficiency 10	Lymphadenopathy	OMIM:612783
Congenital Analbuminemia	Small for gestational age, Edema, Facial edema, Hyperlipidemia, Obesity, Pedal edema, Increased a...	ORPHA:86816
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Renal Tubular Dysgenesis	Anuria, Abnormality of the urinary system, Hypotension, Renotubular dysgenesis, Oligohydramnios	OMIM:267430
Neu-Laxova Syndrome 1	Hydranencephaly, Spina bifida, Polyhydramnios, Stillbirth, Short umbilical cord, Small placenta, ...	OMIM:256520
Primary Intestinal Lymphangiectasia	Edema, Pericardial effusion, Weight loss, Growth delay, Hypoalbuminemia, Hypocalcemia, Hypomagnes...	ORPHA:90362
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Patent ductus arteriosus, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmo...	OMIM:619351
Combined Immunodeficiency Due To Crac Channel Dysfunction	Chronic otitis media, Splenomegaly, Pneumonia, Lymphadenopathy	ORPHA:169090
Fibular Hemimelia	Spina bifida	ORPHA:93323
Rhabdoid Tumor	Lymphadenopathy	ORPHA:69077
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Ventricular septal defect, Short stature, Broad femoral neck, Broad ischia...	OMIM:619727
Split Cord Malformation	Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Hydrocephalus, Meni...	ORPHA:573278
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Griscelli Syndrome Type 2	Splenomegaly, Lymphadenopathy	ORPHA:79477
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Ventricular septal defect, Cerebral hemorrhage, Overlapping toe, Patent ductus arter...	OMIM:616682
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Polyhydramnios, Spina bifida, Hydrocephalus, Meningocele, Occipital ...	ORPHA:567
Gitelman Syndrome	Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy...	ORPHA:358
Xfe Progeroid Syndrome	Failure to thrive, Renal insufficiency, Proteinuria, Severe short stature, Cachexia, Hypertension...	OMIM:610965
Neuroleptic Malignant Syndrome	Hyponatremia, Tachycardia, Proteinuria, Elevated circulating creatine kinase concentration, Urina...	ORPHA:94093
Nephroblastoma	Lymphadenopathy	ORPHA:654
Thrombocytopenia-Absent Radius Syndrome	Syringomyelia, Edema of the dorsum of feet, Spina bifida, Edema of the dorsum of hands	OMIM:274000
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Mevalonic Aciduria	Skin rash, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr...	OMIM:610377
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Spinal dysraphism	OMIM:603546
Hemophagocytic Lymphohistiocytosis, Familial, 2	Skin rash, Increased circulating ferritin concentration, Splenomegaly, Lymphadenopathy, Hepatospl...	OMIM:603553
Meige Disease	Recurrent skin infections, Lymph node hypoplasia, Recurrent bacterial skin infections, Absence of...	ORPHA:90186
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Proteinuria, Short stature, Bowing of the legs, Raynaud phenomenon, Hypopl...	ORPHA:1855
Common Variable Immunodeficiency	Pneumonia, Splenomegaly, Bronchiectasis, Lymphadenopathy, Decreased circulating antibody level, O...	ORPHA:1572
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Edema, Raynaud phenomenon, Punctate vasculitis skin les...	OMIM:192315
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Short stature, Recurrent fractures, Osteoporosis, Obesity, Reduced bone mineral density, Delayed ...	ORPHA:2235
Alg9-Cdg	Hydrops fetalis, Right ventricular dilatation, Abnormal left ventricular outflow tract morphology...	ORPHA:79328
Neurofibromatosis, Type I	Aqueductal stenosis, Hypertension, Hydrocephalus, Spina bifida	OMIM:162200
Aromatase Deficiency	Eunuchoid habitus, Osteopenia, Delayed epiphyseal ossification, Hyperlipidemia, Osteoporosis, Obe...	ORPHA:91
Yellow Fever	Abnormal bleeding, Shock, Renal insufficiency, Anuria, Elevated circulating creatine kinase conce...	ORPHA:99829
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder	ORPHA:349
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased circulating ferritin concentration, Splenomegaly, Lymphadenopathy, Hypoalbuminemia, Hyp...	OMIM:267700
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Postnatal growth retardation, Heart murmur, Multiple bladder diverticula, Atrial sep...	ORPHA:2728
Ulnar Hemimelia	Spinal dysraphism	ORPHA:93320
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Myocardial infarction, Elevated circulating creatinine concentration, Dehyd...	ORPHA:90038
Williams-Beuren Syndrome	Osteopenia, Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Atrial septal defect, V...	OMIM:194050
Genitopalatocardiac Syndrome	Abnormal mesentery morphology, Abnormality of the gallbladder	ORPHA:2075
Triosephosphate Isomerase Deficiency	Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis	OMIM:615512
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Tethered cord, Spinal dysraphism	OMIM:612918
Pauci-Immune Glomerulonephritis	Purpura, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal inter...	ORPHA:93126
Chronic Thromboembolic Pulmonary Hypertension	Osteomyelitis, Cardiac shunt, Elevated circulating C-reactive protein concentration, Edema, Pulmo...	ORPHA:70591
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Edema, Congestive heart failure, Oliguria, Heart murmur, Bacterial endocard...	ORPHA:1054
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Exencephaly	ORPHA:2211
Lassa Fever	Facial edema, Abnormal bleeding, Oliguria, Shock	ORPHA:99824
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Increased body weight	ORPHA:276608
Desmoplastic Small Round Cell Tumor	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:83469
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Nonimmune hydrops fetalis, Pericardial effusion, Increased circulating ferr...	OMIM:619313
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Edema, Nephrotic syndrome, Focal segmental glom...	OMIM:254900
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, Gl...	ORPHA:534
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Recurrent intrapulmonary hemorrhage, A...	ORPHA:900
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Erythroderma, Lymphadenopathy	ORPHA:79456
Adrenocortical Carcinoma	Increased urinary cortisol level, Increased body weight, Weight loss, Hypertension, Hypokalemia, ...	ORPHA:1501
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Decreased circulating free fatty acid level, Ketonuria, Large for gestational age, Increased C-pe...	ORPHA:79644
Q Fever	Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Splenomegaly, Myocarditis, Hepat...	ORPHA:781
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Decreased circulating IgG level, Chronic nonin...	ORPHA:3261
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Polyhydramnios, Large for gestational age, Flexion contracture, Tibial bowing, Hypoplastic iliac ...	ORPHA:96334
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Stiff neck, Elevated circulating creatine kinase concentration, Abnormal lef...	ORPHA:99827
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c...	ORPHA:90068
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Abnormal renal tubular reso...	ORPHA:73224
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Recurrent otitis media, Panhypogammaglobulinemia, Pneumonia, Absent peripheral lymph nodes in pre...	OMIM:600802
Chops Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Obesity, Anomalous pulmonary ...	OMIM:616368
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, Enthesitis, Lymphadenopathy, Hepatos...	ORPHA:85408
Postinfectious Vasculitis	Abnormal circulating protein concentration, Cerebral vasculitis, Palpable purpura, Membranoprolif...	ORPHA:48435
Koolen-De Vries Syndrome Due To A Point Mutation	Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Dural ectasia, Cardiomyopathy, Pulmonic...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spina bifida, Intraventricular hemorrhage, Hydrocephalus, Dural ectasia, Cardiomyopathy, Pulmonic...	ORPHA:363958
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Spina bifida	ORPHA:508498
Myhre Syndrome	Hypoplastic iliac wing, Atrial septal defect, Vertebral fusion, Short stature, Pericardial effusi...	OMIM:139210
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Pustule, Cheilitis, Lymphadenopathy, Eosinophilic d...	ORPHA:293173
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Predominantly lower limb lymphedema, Proteinu...	ORPHA:33001
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Aplasia of the thymus, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Lympha...	ORPHA:83471
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Absence of lymph node germinal center, Chronic mucocutaneous candidiasis, Hepatosplenomegaly, Abn...	ORPHA:79124
Fanconi Anemia	Spina bifida, Hydrocephalus, Umbilical hernia, Hypertrophic cardiomyopathy, Oligohydramnios	ORPHA:84
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased circulating total IgG, Pneumonia, Elevated circulating C-reactive protei...	OMIM:619381
Acute Monoblastic/Monocytic Leukemia	Periorbital edema, Oliguria, Weight loss	ORPHA:514
Renal Agenesis	Renal insufficiency, Renal agenesis, Ventricular septal defect, Proteinuria, Unilateral renal age...	ORPHA:411709
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Myelofibrosis, Joint laxity, Aortic regurgitation, Duplicated collecting system, Ventricular sept...	OMIM:607721
Aggressive Systemic Mastocytosis	Hypersplenism, Maculopapular exanthema, Lymphadenopathy, Hepatosplenomegaly	ORPHA:98850
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Campomelic Dysplasia	Hydrocephalus, Spina bifida, Polyhydramnios, Spinal dysraphism	OMIM:114290
Niemann-Pick Disease, Type A	Splenomegaly, Lymphadenopathy	OMIM:257200
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Ectopic kidney, Reduced bon...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Ectopic kidney, Reduced bon...	ORPHA:99228
Monosomy X	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Ectopic kidney, Reduced bon...	ORPHA:99226
Turner Syndrome	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Lymphedema, Ectopic kidney, Reduced bon...	ORPHA:881
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potass...	ORPHA:79102
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Focal segmental glomerulosclerosi...	ORPHA:347
Acute Interstitial Pneumonia	Bronchiectasis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	ORPHA:79126
Webb-Dattani Syndrome	Neurogenic bladder, Short stature, Hip dislocation, Obesity, Hyposthenuria, Vesicoureteral reflux...	OMIM:615926
Generalized Arterial Calcification Of Infancy	Edema, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Abnormal calcification of the carpal bones,...	ORPHA:51608
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Proteinuria, Abnormality of body weight, Abnormal circu...	ORPHA:2298
Orofaciodigital Syndrome Type 1	Finger syndactyly, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Tarsal synosto...	ORPHA:2750
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn...	OMIM:277400
Hennekam Syndrome	Finger syndactyly, Mild postnatal growth retardation, Camptodactyly of finger, Craniosynostosis, ...	ORPHA:2136
Holoprosencephaly	Encephalocele, Hydrocephalus, Spinal cord tumor, Spinal dysraphism, Branchial anomaly, Holoprosen...	ORPHA:2162
Cushing Disease	Increased urinary cortisol level, Myocardial infarction, Osteoporosis, Increased body weight, Ped...	ORPHA:96253
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia...	OMIM:618620
Jacobsen Syndrome	Aortic valve stenosis, Spina bifida	ORPHA:2308
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous...	ORPHA:555874
Cockayne Syndrome B	Renal insufficiency, Severe short stature, Small for gestational age, Proteinuria, Postnatal grow...	OMIM:133540
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Large for gestational...	ORPHA:500095
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Skin rash, Eczema, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splen...	OMIM:615688
Exercise-Induced Malignant Hyperthermia	Abnormal bleeding, Prolonged QT interval, Acute kidney injury, Elevated circulating creatine kina...	ORPHA:466650
Thrombotic Thrombocytopenic Purpura, Hereditary	Transient ischemic attack, Proteinuria, Myocardial infarction, Hemolytic-uremic syndrome, Elevate...	OMIM:274150
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Skin rash, Elevated circulating C-reactive protein concentration, Pu...	ORPHA:50918
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Hyponatremia, Renal insufficiency, Recurrent urinary tract infection...	ORPHA:731
Hereditary Hemorrhagic Telangiectasia	Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure	ORPHA:774
Aregenerative Anemia	Abnormality of interleukin secretion, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:101096
Cardiac-Urogenital Syndrome	Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Penoscrotal hypos...	OMIM:618280
Brucellosis	Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Increased circulating...	ORPHA:1304
Aspartylglucosaminuria	Aspartylglucosaminuria, Abnormal morphology of ulna, Joint stiffness, Arthritis, Umbilical hernia...	ORPHA:93
Distal Deletion 12Q	Ectopic kidney, Proportionate tall stature, Aplasia/Hypoplasia of the middle phalanx of the 3rd f...	ORPHA:96149
Medullary Thyroid Carcinoma	Lymphadenopathy	ORPHA:1332
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Microscopic hematuria...	OMIM:308940
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Primary Myelofibrosis	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	ORPHA:824
Bardet-Biedl Syndrome 20	Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, 2-3 toe syndactyly, Prea...	OMIM:619471
Vacterl/Vater Association	Abnormality of the pancreas, Abnormality of the gallbladder	ORPHA:887
Joubert Syndrome 39	Occipital encephalocele, Postaxial polydactyly, Overweight, Hypoplastic left heart, Joint contrac...	OMIM:619562
Pheochromocytoma	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171300
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Malt Lymphoma	Mediastinal lymphadenopathy, Posterior uveitis, Lymphadenopathy	ORPHA:52417
Aicardi Syndrome	Spina bifida	OMIM:304050
Rubinstein-Taybi Syndrome 1	Spina bifida occulta, Spina bifida, Polyhydramnios	OMIM:180849
Carpenter Syndrome 2	Preaxial polydactyly, Coxa vara, Knee flexion contracture, Cutaneous finger syndactyly, Clinodact...	OMIM:614976
Sarcoidosis, Susceptibility To, 1	Pericardial effusion, Bone cyst, Clubbing, Hypercalciuria, Weight loss, Arthritis, Pulmonary arte...	OMIM:181000
Immunodeficiency 55	Recurrent skin infections, Eczema, Lymphadenopathy	OMIM:617827
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Osteomyelitis, Discoid lupus rash, Splenomegaly, Lymphadenit...	OMIM:306400
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Dec...	ORPHA:447
Cartilage-Hair Hypoplasia	Heart block, Cardiomyopathy, Spinal dysraphism	ORPHA:175
Coccidioidomycosis	Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, M...	ORPHA:228123
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Pituitary dwarfism, Overweight, Facial edema, Delayed proximal femoral epiphyseal ossification, G...	ORPHA:226307
Lymphatic Filariasis	Glomerulonephritis, Orchitis, Lymphadenitis, Knee osteoarthritis, Abnormality of the lymphatic sy...	ORPHA:2035
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy	ORPHA:97289
Riddle Syndrome	Generalized lymphadenopathy, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Rec...	ORPHA:420741
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, Simplified gyral pattern, Obesity, Pathologic fracture, Moderate albuminuria	OMIM:614231
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Tethered cord, Spina bifida	OMIM:619480
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Joint laxity, Hypospadias, Br...	ORPHA:353281
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le...	ORPHA:29073
Wilson Disease	Increased body weight, Weight loss, Arthritis, Joint swelling, Pathologic fracture, Failure to th...	ORPHA:905
Familial Mediterranean Fever	Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Lymphadenopathy, Ar...	ORPHA:342
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Hypospadias, Short stature, Congestive heart failure, Patent ductus ar...	ORPHA:444077
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Polyhydramnios, Vesicoureteral reflux, Atrial septal defect, Patent forame...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Polyhydramnios, Vesicoureteral reflux, Atrial septal defect, Patent forame...	ORPHA:353277
Immunodeficiency 31C	Osteomyelitis, Eczema, Splenomegaly, Bronchiectasis, Chronic mucocutaneous candidiasis, Lymphaden...	OMIM:614162
Pearson Syndrome	Renal insufficiency, Small for gestational age, Lacticaciduria, Cardiac conduction abnormality, P...	ORPHA:699
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Ventricular septal defect, Large for gestational age, Bowing of the legs, Long...	OMIM:617107
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Spider hemangioma, Hyperlipidemia, Gout, Hematuria, Hypertensio...	OMIM:232240
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Renal steatosis, ...	ORPHA:412
Rett Syndrome	Cholecystitis	ORPHA:778
Metachromatic Leukodystrophy, Adult Form	Cholecystitis, Neoplasm of the gallbladder	ORPHA:309271
Metachromatic Leukodystrophy, Late Infantile Form	Cholecystitis	ORPHA:309256
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Edema, Angioedema,...	ORPHA:761
Igg4-Related Submandibular Gland Disease	Cholangitis, Increased circulating IgG4 level, Increased circulating IgE level, Lymphadenopathy, ...	ORPHA:449432
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Weight loss, Hematuria, Syncope, Renal artery ...	ORPHA:71273
Behçet Disease	Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Splenomegaly, Retrobulba...	ORPHA:117
Beckwith-Wiedemann Syndrome	Ureteral duplication, Nephroblastoma, Polyhydramnios, Elevated circulating alpha-fetoprotein conc...	ORPHA:116
Metachromatic Leukodystrophy, Juvenile Form	Cholecystitis	ORPHA:309263
Vater/Vacterl Association	Occipital encephalocele, Tethered cord, Spina bifida, Patent urachus	OMIM:192350
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Cholelithiasis, Cholecystitis, Hepatosplenomegaly	OMIM:301066
Acute Promyelocytic Leukemia	Stomatitis, Lymphadenopathy	ORPHA:520
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Viral hepatitis, Liver abscess, Cholangitis, Cholecystitis	ORPHA:183675
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul...	OMIM:146255
Chikungunya	Maculopapular exanthema, Skin rash, Erythema nodosum, Cervical lymphadenopathy, Crusting erythema...	ORPHA:324625
Relapsing Polychondritis	Abnormal endocardium morphology, Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, ...	ORPHA:728
Lig4 Syndrome	Lymphadenopathy	ORPHA:99812
Cutaneous Neuroendocrine Carcinoma	Chronic noninfectious lymphadenopathy	ORPHA:79140
Proteasome-Associated Autoinflammatory Syndrome 1	Episcleritis, Increased circulating interleukin 6 concentration, Increased circulating interleuki...	OMIM:256040
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Increased circulating IgG4 level, Elevated circulating C-reactive protein...	ORPHA:449563
Insulinoma	Palpitations, Increased body weight	ORPHA:97279
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Lymphadenopathy, Recurrent sinusitis, Rheumatoid arthritis, Recurrent otitis media, Ju...	OMIM:607944
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Cholecystitis, Hepatic steatosis	ORPHA:98908
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Edema, Retinal hemorrhage, Stage 5 chronic kidney disea...	OMIM:609049
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Proteinuria, Edema, Congestive heart failure, Myoc...	ORPHA:2331
Pallister-Hall Syndrome	Large for gestational age, Ectopic kidney, Atrial septal defect, Micropenis, Atrioventricular can...	ORPHA:672
H Syndrome	Psoriasiform dermatitis, Bronchiectasis, Lymphadenopathy, Hepatosplenomegaly, Chronic rhinitis	ORPHA:168569
Chediak-Higashi Syndrome	Splenomegaly, Recurrent bacterial skin infections, Periodontitis, Lymphadenopathy	OMIM:214500
Otopalatodigital Syndrome, Type Ii	Umbilical hernia, Hydrocephalus, Stillbirth, Spina bifida	OMIM:304120
Farber Disease	Arthritis, Lymphadenopathy, Hepatosplenomegaly	ORPHA:333
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth...	ORPHA:289390
Systemic Lupus Erythematosus	Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Arthritis, Malar rash, Serositis	ORPHA:536
Waldenström Macroglobulinemia	Splenomegaly, Lymphadenopathy, Monoclonal immunoglobulin M proteinemia	ORPHA:33226
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Listeriosis	Liver abscess, Jaundice, Peritonitis, Hepatic granulomatosis, Cholecystitis, Splenic abscess	ORPHA:533
Chédiak-Higashi Syndrome	Recurrent bacterial skin infections, Skin rash, Splenomegaly, Increased circulating ferritin conc...	ORPHA:167
Pmm2-Cdg	Osteopenia, Joint laxity, Pericarditis, Multiple joint contractures, Angina pectoris, Proteinuria...	ORPHA:79318
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Myocardial infarction, Osteoporosis, Increased body weight, Ped...	ORPHA:99889
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Urinary bladde...	ORPHA:556
Histiocytosis-Lymphadenopathy Plus Syndrome	Episcleritis, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly	OMIM:602782
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Obesity, Cystic renal dysplasia, Postaxial foot polydact...	OMIM:615989
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Skin rash, Chilblains, Pneumonia, Splenomegaly, ...	OMIM:615846
Blau Syndrome	Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, I...	ORPHA:90340
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Lymphad...	ORPHA:79078
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Smith-Lemli-Opitz Syndrome	Abnormality of the gallbladder	ORPHA:818
Wolf-Hirschhorn Syndrome	Abnormality of the gallbladder, Abdominal situs inversus	ORPHA:280
Marburg Hemorrhagic Fever	Pericarditis, Maculopapular exanthema, Elevated circulating creatine kinase concentration, Hypera...	ORPHA:99826
Systemic Mastocytosis With Associated Hematologic Neoplasm	Splenomegaly, Lymphadenopathy	ORPHA:98849
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Splenomegaly, Polysplenia, Lymphadenopathy	OMIM:619418
Familial Pancreatic Carcinoma	Lymphadenopathy, Hepatosplenomegaly	ORPHA:1333
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Erythro...	OMIM:233450
Leptospirosis	Pericarditis, Skin rash, Hepatitis, Uveitis, Lymphadenopathy, Hyperproteinemia, Optic neuritis	ORPHA:509
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Plague	Chapped lip, Skin rash, Erythema nodosum, Splenomegaly, Lymphadenitis, Enterocolitis, Endocarditi...	ORPHA:707
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly	ORPHA:31150
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Lymphangioleiomyomatosis	Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy	ORPHA:538
Sarcoidosis	Maculopapular exanthema, Erythema nodosum, Bronchiectasis, Uveitis, Abnormal lymph node morpholog...	ORPHA:797
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Micropenis, Short stature, Portal hy...	ORPHA:64
Ileal Neuroendocrine Tumor	Lymphadenopathy	ORPHA:100078
African Trypanosomiasis	Pericarditis, Keratitis, Splenomegaly, Myocarditis, Hepatosplenomegaly, Lymphadenopathy, Optic ne...	ORPHA:3385
Carney Complex	Congestive heart failure, Cardiac myxoma, Increased body weight, Hypertension, Abdominal obesity,...	ORPHA:1359

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for F2r

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to F2r.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Myeloid Protease-Activated Receptor-2 Contributes to Influenza A Virus Pathology in Mice.	Frontiers in immunology (December 2021)	F2rl1^{tm1a(EUCOMM)Wtsi}	PMC8671937
Cell type-specific roles of PAR1 in Coxsackievirus B3 infection.	Scientific reports (July 2021)	F2r^{tm1c(EUCOMM)Wtsi}	PMC8275627
PAR1 regulation of CXCL1 expression and neutrophil recruitment to the lung in mice infected with influenza A virus.	Journal of thrombosis and haemostasis : JTH (February 2021)	F2r^{tm1c(EUCOMM)Wtsi}	PMC8048419
A T cell-specific knockout reveals an important role for protease-activated receptor 2 in lymphocyte development.	The international journal of biochemistry & cell biology (September 2017)	F2rl1^{tm1c(EUCOMM)Wtsi} F2rl1^{tm1a(EUCOMM)Wtsi}	28951199
Counterregulation between thymic stromal lymphopoietin- and IL-23-driven immune axes shapes skin inflammation in mice with epidermal barrier defects.	The Journal of allergy and clinical immunology (March 2016)	F2rl1^{tm1a(EUCOMM)Wtsi}	26993035

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
F2r^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
F2r^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
F2r^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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