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Gene: B4galt1 MGI:95705

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1

Synonyms:

Ggtb2, beta-1,4-GalT1, Ggtb, beta 1,4-Galactosyltransferase I, b1,4-Galactosyltransferase I, B-1,4-GalT1, GalT

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 B4galt1 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 B4galt1 (3 diseases)
Human diseases predicted to be associated with B4galt1 (2067 diseases)

The table below shows human diseases associated to B4galt1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Combined Low Ldl And Fibrinogen	Elevated circulating aspartate aminotransferase concentration	OMIM:620364
B4Galt1-Cdg	Hepatomegaly, Inflammatory abnormality of the skin, Redundant neck skin, Small for gestational ag...	ORPHA:79332
Congenital Disorder Of Glycosylation, Type Iid	Elevated circulating aspartate aminotransferase concentration	OMIM:607091

The table below shows human diseases predicted to be associated to B4galt1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Increased circulating IgA level	OMIM:314000
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
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
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Complement Factor H Deficiency	Chronic kidney disease, Thickened glomerular basement membrane, Hematuria, Depletion of component...	OMIM:609814
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces...	OMIM:617006
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Glomerulonephritis, Stage 5 chronic kidney diseas...	OMIM:613496
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c...	OMIM:613913
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Increased circulating antibody level, Glomerulonephritis	OMIM:247800
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Hematuria, Benign Familial, 1	Hematuria, Thin glomerular basement membrane	OMIM:141200
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
C1Q Deficiency 1	Membranoproliferative glomerulonephritis, Decreased circulating complement factor I concentration	OMIM:613652
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Nephrotic syn...	OMIM:613779
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Atypical Hemolytic Uremic Syndrome	Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s...	ORPHA:2134
Systemic Lupus Erythematosus 16	Decreased circulating complement C3 concentration, Lupus nephritis, Decreased circulating complem...	OMIM:614420
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:600995
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Nephrotic Syndrome, Type 22	Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne...	OMIM:619155
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Decreased c...	OMIM:608709
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy	OMIM:257970
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis	OMIM:161900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Complement Component 4A Deficiency	Glomerulonephritis, Reduced hemolytic complement activity, Decreased circulating complement C4 co...	OMIM:614380
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5...	OMIM:614377
Cryofibrinogenemia, Familial Primary	Hematuria, Transient nephrotic syndrome	OMIM:123540
Nondisjunction	Decreased fertility	OMIM:158250
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:567548
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi...	ORPHA:84090
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Hydroxyprolinemia	Microscopic hematuria	OMIM:237000
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren...	OMIM:256300
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co...	OMIM:603278
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:614455
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro...	OMIM:618348
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased...	OMIM:615285
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise...	OMIM:617575
Acquired Partial Lipodystrophy	Decreased circulating complement C3 concentration, Glomerulopathy, Microscopic hematuria, Protein...	ORPHA:79087
Angioma, Hereditary Neurocutaneous	Hematuria	OMIM:106070
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Amyloidosis, Familial Visceral	Proteinuria, Skin rash, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Endometriosis, Susceptibility To, 1	Decreased fertility, Dysmenorrhea, Endometriosis	OMIM:131200
Transcobalamin Deficiency	Methylmalonic aciduria, Decreased circulating antibody level, Decreased circulating total IgM, De...	ORPHA:859
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Hematuria, Cryoglobulinemia, Abnormal renal physiology	OMIM:123550
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno...	ORPHA:91139
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Malabsorption, Skin ulcer, Weight loss, Decreased circulat...	ORPHA:33355
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Ambiguous genitalia, female, Dehydration, Ambiguous genital...	ORPHA:90791
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ...	ORPHA:567546
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Spermatogenic Failure, X-Linked, 6	Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage...	OMIM:301101
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Gout, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy	OMIM:617056
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ...	ORPHA:529970
Immunodeficiency, Common Variable, 7	Recurrent urinary tract infections, Chronic (near) absent circulating IgG4, Reduced isohemaggluti...	OMIM:614699
Oliver-Mcfarlane Syndrome	Hypoplasia of penis, Alopecia, Hypogonadotropic hypogonadism, Decreased response to growth hormon...	OMIM:275400
Immunodeficiency 25	Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Increased ...	OMIM:610163
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Premature ovarian insufficiency, Short stature, Thin nail, Absent eyelashes, Nail...	OMIM:618625
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Pneumonia, Abnorm...	ORPHA:229717
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent urinary tract infections, Reduced natural killer cell activity, Stage 5 chronic kidney ...	OMIM:615559
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis	ORPHA:375
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Hepatomegaly, Dysgammaglobulinemia, Malabsorption, Splenomeg...	ORPHA:100025
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Arthritis, Crescentic glomerulonephritis, Mesangial hypercellularity	OMIM:616414
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Cachexia, Portal hypertensio...	ORPHA:824
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Syndromic X-Linked Intellectual Disability 7	Hypoplasia of penis, Short stature, Cryptorchidism, Hypogonadism, Micropenis, Sparse body hair	ORPHA:85274
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:619603
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Gout	ORPHA:510
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	ORPHA:347
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,...	ORPHA:90793
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Decreased response to growth hormone stimulation test, Cryptorchidism, Growth delay, Hy...	ORPHA:3363
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Decrea...	OMIM:612925
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, B...	OMIM:226990
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Sparse eyelashes, Short stature, Lipodystrophy, Sparse eyebrow, Cryptorchidism...	ORPHA:75496
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria	OMIM:120433
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Aplasia/Hypoplasia of the skin, ...	ORPHA:2348
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Hematuria, Nephropathy, Nephrolithiasis	ORPHA:2196
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Aplasia/Hypoplasia of the skin, ...	ORPHA:79083
Adrenal Hypoplasia, Congenital	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio...	OMIM:300200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Decreased circulating complement C3 co...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Decreased circulating complement C3 co...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Decreased circulating complement C3 co...	OMIM:612926
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Autoinflammatory-Pancytopenia Syndrome	Intestinal inflammation, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains	OMIM:619858
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria	OMIM:261100
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati...	ORPHA:231222
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn...	OMIM:617585
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ...	OMIM:606843
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Pa Polymorphism Of Alpha-2-Globulin	Abnormal immunoglobulin level	OMIM:260100
Galloway-Mowat Syndrome 6	Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis	OMIM:618347
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Splenomegaly, Erythema, Skin ulcer, Dry skin, Lymphadenopathy, H...	ORPHA:2584
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Petechiae, Splenomegaly, L...	OMIM:612840
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Recurrent respiratory infections, Hypospadias, Supernumerary nipple, Cryptorchidis...	ORPHA:217346
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Nonimmune hydro...	OMIM:607823
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Short stature, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurren...	OMIM:266265
Immunodeficiency 64 With Lymphoproliferation	Increased circulating IgA level, Bronchiectasis, Increased circulating IgG level, Increased circu...	OMIM:618534
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ...	OMIM:608106
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Gout, Hy...	ORPHA:3467
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn...	ORPHA:439232
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Eczema, Anal fissure, Perianal absc...	OMIM:618935
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Absent specific antibody response, Inflammatory abnormality of the s...	OMIM:102700
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Thrombotic Thrombocytopenic Purpura	Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria	ORPHA:54057
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im...	OMIM:308230
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgA level, Nephrotic syndrome, Increased circulating IgG level, Increased c...	OMIM:603909
Xq27.3Q28 Duplication Syndrome	Short stature, Cryptorchidism, Hypogonadism, Sparse body hair, Intrauterine growth retardation, D...	ORPHA:261483
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathy...	ORPHA:231226
Preeclampsia/Eclampsia 1	Proteinuria	OMIM:189800
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Erythema, Skin ulcer, Granuloma, Abnormality of neutrophil ...	ORPHA:542592
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Small Cell Carcinoma Of The Bladder	Hematuria, Recurrent urinary tract infections, Dysuria	ORPHA:284400
Immunodeficiency, Common Variable, 3	Decreased circulating total IgM, Reduced isohemagglutinin level, Conjunctivitis, Chronic decrease...	OMIM:613493
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ...	OMIM:613502
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig...	OMIM:605258
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati...	OMIM:619632
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Chronic myelomon...	ORPHA:90280
Cryoglobulinemic Vasculitis	Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Circulating immune complexes, ...	ORPHA:91138
Galactosemia I	Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine	OMIM:230400
X-Linked Agammaglobulinemia	Sinusitis, Glossoptosis, Conjunctivitis, Neutropenia, Chronic otitis media, Recurrent cutaneous a...	ORPHA:47
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Spermatogenic Failure 51	Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp...	OMIM:619177
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology	ORPHA:839
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Decreased circulating IgA level	OMIM:215250
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Ichthyosis, Congenital, Autosomal Recessive 13	Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:617574
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Aca...	ORPHA:555905
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Pituicytoma	Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis...	ORPHA:251623
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci	OMIM:233670
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Impaired T cell function, Abnormal cortical gyration, Splenomegaly, P...	OMIM:614576
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathyroidism, Hepat...	ORPHA:231214
Cystinuria	Hematuria, Renal insufficiency, Nephrolithiasis	ORPHA:214
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, De...	ORPHA:99886
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Thin ski...	ORPHA:2985
Autoinflammation, Immune Dysregulation, And Eosinophilia	Nephrotic syndrome, Atopic dermatitis, Colonic eosinophilia, Membranous nephropathy	OMIM:618999
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:308940
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Dermoodontodysplasia	Sparse scalp hair, Melanocytic nevus, Hypohidrosis, Fingernail dysplasia, Thin skin, Trichodyspla...	ORPHA:1660
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo...	OMIM:614376
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati...	OMIM:618944
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Cryptorchidism, Dehydration, Intrauterine growth retardation	OMIM:618958
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Dysmenorrhea, Premature graying of hair, Increased intraabdominal fat, Xanthomatosis, Generalized...	ORPHA:280365
Syndromic Recessive X-Linked Ichthyosis	Short stature, Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Hypohidrosis, Hyperke...	ORPHA:281090
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Hypergranulosis, Palmoplantar hyperker...	OMIM:615598
Immunodeficiency 50	Recurrent urinary tract infections, Eczema, Decreased circulating antibody level	OMIM:300988
Ciliary Dyskinesia, Primary, 50	Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag...	OMIM:620356
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Acantholysis, Pustule, ...	ORPHA:293173
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Weight loss...	ORPHA:507
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury	OMIM:612924
Cerebrooculofacioskeletal Syndrome 1	Cryptorchidism, Recurrent pneumonia, Flexion contracture, Elbow flexion contracture, Dehydration,...	OMIM:214150
Parana Hard Skin Syndrome	Growth delay, Hyperkeratosis, Short stature, Thickened skin	ORPHA:2812
Pituitary Adenoma 4, Acth-Secreting	Edema, Pituitary adenoma, Hirsutism, Increased circulating ACTH level, Oligomenorrhea, Thin skin,...	OMIM:219090
Mu-Heavy Chain Disease	Nephropathy, Increased circulating antibody level, Bence Jones Proteinuria	ORPHA:100024
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Lipoatrophy, Skin dimple, Thin skin, Sparse hair, Intrauterine growth retardation, Aplasia/Hypopl...	ORPHA:261304
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Immunodeficiency 96	Multicystic kidney dysplasia, Eczema, Decreased circulating total IgM, Defective T cell prolifera...	OMIM:619774
Glanzmann Thrombasthenia	Impaired thrombin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair...	ORPHA:849
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Dehydration, Sex...	ORPHA:289548
Severe Combined Immunodeficiency, X-Linked	Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinem...	OMIM:300400
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis	OMIM:101900
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Gout, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute ki...	ORPHA:79233
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Delayed puberty	ORPHA:2297
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia	ORPHA:46532
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Malabsor...	ORPHA:98850
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn...	OMIM:616307
Autoimmune Hepatitis	Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Increa...	ORPHA:2137
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Dehydration, Sex reversal, Ambiguous ge...	ORPHA:168558
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Postnatal growth retardation, J...	ORPHA:79303
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo...	OMIM:617388
Congenital Disorder Of Glycosylation, Type Iq	Eczema, Microcytic anemia, Dry skin, Cutis laxa, Hyperkeratosis, Ichthyosis, Dysphagia, Failure t...	OMIM:612379
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo...	OMIM:607426
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Patent ductus arte...	OMIM:617021
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Dehydratio...	ORPHA:90794
Erythrokeratodermia Variabilis Et Progressiva 5	Hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:617756
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul...	OMIM:146255
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, Decreased circulating I...	OMIM:619707
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Spermatogenic Failure 24	Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce...	OMIM:617959
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level...	OMIM:601859
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eczema, Glomerulonephritis, Increased circulating IgE level, Hepatitis, Arthritis, Erythroderma	OMIM:304790
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Hypogonadotropic hypogonadism, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Primary a...	OMIM:146110
Xp22.3 Microdeletion Syndrome	Sacral dimple, Aplasia/Hypoplasia of the skin, Hypogonadotropic hypogonadism, Short stature, Decr...	ORPHA:1643
Papa Syndrome	Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Increased circu...	ORPHA:69126
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri...	ORPHA:276621
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Ataxia-Telangiectasia	Elevated hepatic transaminase, Recurrent respiratory infections, Hypopigmentation of hair, Diabet...	ORPHA:100
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev...	OMIM:219080
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Moynahan Syndrome	Sparse hair, Alopecia, Hypogonadism, Short stature	ORPHA:2574
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Acantholysis, Intestinal perforation, Malabsorption, Erythema, Trach...	ORPHA:537
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc...	ORPHA:2457
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2668
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo...	OMIM:617729
Acrogeria	Aplasia/Hypoplasia of the skin, Short stature, Lipoatrophy, Skin ulcer, Fine hair, Thin skin	ORPHA:2500
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Inguinal hernia, Abnormal dental enamel morphology, Supernumerary nipple, Po...	ORPHA:1812
Immunodeficiency, Common Variable, 14	Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific...	OMIM:617765
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A...	OMIM:615508
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Dehydration, Intrauterine growth retardation	OMIM:601410
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Glomerulonephritis, Thyroiditis	OMIM:619375
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, Increased circulating IgG level, T lymphocytopenia, High pala...	ORPHA:443811
Cutis Laxa, Autosomal Recessive, Type Iiia	Inguinal hernia, Short stature, Cryptorchidism, Umbilical hernia, Thin skin, Sparse hair, Intraut...	OMIM:219150
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi...	OMIM:202110
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ...	OMIM:616452
Aquagenic Palmoplantar Keratoderma	Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk...	ORPHA:498359
Orotic Aciduria	Hematuria, Oroticaciduria, Orotic acid crystalluria, Impaired T cell function	OMIM:258900
Immunodeficiency 61	Decreased circulating IgG4 level, Agammaglobulinemia, Decreased circulating total IgM, Arthritis,...	OMIM:300310
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Hypohidrosis, Thin skin, Sparse hair, Sparse body hair	ORPHA:1810
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Conjunctivitis, Recurre...	OMIM:612692
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia	ORPHA:3319
46,Xx Gonadal Dysgenesis	Streak ovary, Premature ovarian insufficiency, Short stature, Sparse pubic hair, Increased circul...	ORPHA:243
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Proteasome-Associated Autoinflammatory Syndrome 2	Skin rash, Neutrophilic infiltration of the skin, Increased circulating IgA level, Increased circ...	OMIM:618048
Heme Oxygenase 1 Deficiency	Hematuria, Increased circulating interleukin 6 concentration, Nephritis, Proteinuria	OMIM:614034
Cushing Disease	Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Diabetes mellitus, Para...	ORPHA:96253
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Ulcerative colitis, Anemia	OMIM:619398
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Agammaglobulinemia 2, Autosomal Recessive	Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,...	OMIM:613500
Chromosome Xq27.3-Q28 Duplication Syndrome	Short stature, Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Sparse bod...	OMIM:300869
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Netherton Syndrome	Decreased circulating IgG level, Parakeratosis, Villous atrophy, Recurrent skin infections, Eczem...	OMIM:256500
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Hydrocephalus-Obesity-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Absent facial hair, Sparse facial hair, Short stature, Low poster...	ORPHA:2183
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Hematuria	ORPHA:1473
Porokeratosis Of Mibelli	Hyperkeratosis, Porokeratosis	ORPHA:735
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Alopecia, Abnormal response to corticotropin releasing hormone ...	ORPHA:189427
Crandall Syndrome	Alopecia, Hypoplasia of penis, Brittle hair, Fine hair, Hypogonadism, Sparse body hair, Abnormal ...	ORPHA:202
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti...	ORPHA:217390
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Primary adrena...	ORPHA:3453
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Uveitis, Hematuria, Ar...	ORPHA:36412
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Reduced subcutaneous adipose tissue, Alopecia, Hypogonadotropic hypogonadism, Short stature, Limb...	OMIM:612079
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria	OMIM:614652
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Schimke Immuno-Osseous Dysplasia	Proteinuria, Impaired T cell function, Minimal change glomerulonephritis, Abnormal lymphocyte phy...	ORPHA:1830
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Microcytic anemia, Pyoderma gangrenosum, Hepatosplenomegaly, Cystic acne, Art...	OMIM:604416
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Parakeratosis, Aplastic anemia, Maculopapular exanthema, Skin ras...	ORPHA:398124
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Skin rash, Villous atrophy, Short stature, Reduced natural kille...	OMIM:616050
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre...	ORPHA:786
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Dyspareunia, Abnormality of neutrophils, Acantholysis, Thrombocytope...	ORPHA:36426
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Cryptorchidism, Inguinal hernia, Fine hair	ORPHA:1174
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ...	OMIM:228300
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Anonychia With Flexural Pigmentation	Hyperkeratosis, Follicular hyperkeratosis	ORPHA:69125
Ciliary Dyskinesia, Primary, 41	Bronchiectasis, Infertility, Recurrent sinusitis, Immotile sperm	OMIM:618449
Drug-Induced Lupus Erythematosus	Pericarditis, Hematuria, Decreased circulating complement C3 concentration, Decreased circulating...	ORPHA:231111
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Recurrent pneumonia, Dehydration, Long eyelashes, Recurrent bronchiolitis, Papule	OMIM:616069
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Psoriasiform lesion, Eosinophilia, Autoimmune thrombocytopenia, Increased circ...	ORPHA:169154
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria	OMIM:616901
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis	ORPHA:1336
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Thymoma	Myositis, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, ...	ORPHA:99867
Dermoodontodysplasia	Thin skin, Nail dysplasia, Trichodysplasia	OMIM:125640
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Rapp-Hodgkin Syndrome	Hypospadias, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Short sta...	OMIM:129400
Dent Disease 2	Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo...	OMIM:300555
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Allergic rhinitis, Eosinophilia, Malabsorption, Leukoc...	ORPHA:2070
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,...	ORPHA:93552
Multiple Myeloma	Increased circulating IgA level, Abnormality of the bladder, Decreased circulating antibody level...	ORPHA:29073
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury	OMIM:160010
Primary Hyperoxaluria Type 1	Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn...	ORPHA:93598
Al Amyloidosis	Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,...	ORPHA:85443
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Immunodeficiency 91 And Hyperinflammation	Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Hemolytic...	OMIM:619644
Familial Cervical Artery Dissection	Diabetes mellitus, Abnormality of connective tissue, Thin skin, Striae distensae	ORPHA:36382
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair, Growth delay	OMIM:246500
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas	OMIM:134610
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati...	ORPHA:397596
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly	OMIM:606445
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac...	OMIM:308240
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Uveitis, Inflammation of the la...	OMIM:614700
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis	OMIM:615028
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno...	OMIM:259710
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ...	OMIM:619281
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Proteinuria	OMIM:245900
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:225
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Neutropenia, Chronic Familial	Increased circulating antibody level, Periodontitis	OMIM:162700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Abnormal natural killer c...	OMIM:613101
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Recurrent pneumonia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Increas...	OMIM:617303
Autoimmune Lymphoproliferative Syndrome	Renal insufficiency, Gastritis, Glomerulonephritis, Increased circulating IgA level, Increased ci...	ORPHA:3261
Gamma-A-Globulin, Defect In Assembly Of	Decreased circulating IgA level	OMIM:137050
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri...	ORPHA:29072
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Abnormal immunoglobulin level, Stage 5 chronic kidney disease, ...	OMIM:242900
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar...	ORPHA:2722
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Circulating immune complexes, Lymphad...	ORPHA:2035
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Fetal Encasement Syndrome	Omphalocele, Bilateral trilobed lung, Thin skin, Congenital diaphragmatic hernia	OMIM:613630
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr...	OMIM:300291
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Hypoplasia of penis, Small scrotum, Short stature, Abnormality of the thyroid gland, Decreased fe...	ORPHA:2234
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Erythrokeratodermia Variabilis	Skin rash, Short stature, Erythema, Patchy palmoplantar hyperkeratosis, Weight loss, Hyperkeratos...	ORPHA:317
Early-Onset Familial Hypoaldosteronism	Abnormal external genitalia, Postnatal growth retardation, Abnormal circulating corticosterone le...	ORPHA:556030
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta...	OMIM:251300
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Maternal Uniparental Disomy Of Chromosome 6	Inguinal hernia, Miscarriage, Hydrocele testis, Increased serum testosterone level, Intrauterine ...	ORPHA:96181
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Atypical Werner Syndrome	Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Abnormality of the pulm...	ORPHA:79474
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
De Barsy Syndrome	Recurrent sinopulmonary infections, Inguinal hernia, Short stature, Lipodystrophy, Postnatal grow...	ORPHA:2962
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria	ORPHA:251004
Hyper-Igd Syndrome	Skin rash, Increased circulating IgA level, Lymphadenitis, Arthritis, Chronic oral candidiasis, R...	OMIM:260920
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema...	ORPHA:69735
Ichthyosis Hystrix Of Curth-Macklin	Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis	ORPHA:79503
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weigh...	OMIM:209950
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Prolidase Deficiency	Hepatomegaly, Petechiae, Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermati...	OMIM:170100
Congenital Heart Defects And Ectodermal Dysplasia	Medial flaring of the eyebrow, Sparse scalp hair, Thin skin, High anterior hairline, Fragile nails	OMIM:617364
Immunodeficiency 23	Membranoproliferative glomerulonephritis, Eczema, Allergic rhinitis, Increased circulating IgE le...	OMIM:615816
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Recurrent respiratory infections, Dehydration, Hyperactive renin-angiotensin system, Pseudohypoal...	OMIM:264350
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Short stature, Flexion contracture, ...	ORPHA:2850
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor...	ORPHA:98848
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Disproportionate short-limb short stature, Stillbirth, Thin skin	OMIM:259410
Prolactinoma	Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ...	ORPHA:2965
Non-Functioning Paraganglioma	Hematuria, Elevated urinary epinephrine level, Elevated urinary dopamine level, Elevated urinary ...	ORPHA:94080
Netherton Syndrome	Sparse scalp hair, Recurrent respiratory infections, Sparse eyelashes, Short stature, Sparse eyeb...	ORPHA:634
Acquired Ichthyosis	Recurrent skin infections, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis, Dry skin	ORPHA:454
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased circulating co...	OMIM:615830
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Male...	ORPHA:90790
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S...	OMIM:300635
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Hypospadias, Repeated pneumothoraces, Short stature, Congenital di...	OMIM:617602
Systemic Lupus Erythematosus	Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Hematuria, Arthritis, Decrea...	ORPHA:536
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Thr...	OMIM:214500
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut...	ORPHA:2232
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Bronchiectasis, Infertility	OMIM:615872
Cutis Laxa, Autosomal Recessive, Type Iiib	Inguinal hernia, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Fine hair, Thin ...	OMIM:614438
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Death in infancy, Hypospadias, Unilateral cryptorchidism, Polyhydramnios, Bilatera...	OMIM:300219
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy, Weight loss	ORPHA:52416
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Peptic ulcer...	ORPHA:98849
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Androgen Insensitivity Syndrome	Inguinal hernia, Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axill...	OMIM:300068
Systemic Sclerosis	Renal insufficiency, Pericarditis, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Os...	ORPHA:90291
Immunodeficiency 70	Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul...	OMIM:618969
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l...	ORPHA:99429
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Preauricular pit, Sacral dimple, Cryptorchidism, Sparse hair, Umbilical hernia	OMIM:273390
Ulerythema Ophryogenesis	Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat...	ORPHA:3406
X-Linked Ehlers-Danlos Syndrome	Inguinal hernia, Short stature, Thin skin, Hernia, Umbilical hernia	ORPHA:75497
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec...	ORPHA:90796
Bazex Syndrome	Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosis nigricans, Anemia	ORPHA:166113
Autosomal Dominant Deafness-Onychodystrophy Syndrome	Hypoplastic toenails, Absent thumbnail, Absent toenail, Absent fingernail, Aplasia cutis congenit...	ORPHA:79499
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hyperkeratosis, Failure to thrive, Palmoplantar hyperkeratosis	ORPHA:89838
Immunodeficiency 62	Bronchiectasis, Decreased circulating total IgM, Reduced isohemagglutinin level, Decreased circul...	OMIM:618459
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Microscopic Polyangiitis	Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe...	ORPHA:727
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Immunodeficiency, Common Variable, 2	Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusiti...	OMIM:240500
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis...	OMIM:617638
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Failure to thrive, Short stature, Increased circulating IgA level, Bilateral cryptor...	OMIM:616395
Proteus Syndrome	Hyperkeratosis, Splenomegaly, Lymphangioma	OMIM:176920
Psoriasis 14, Pustular	Parakeratosis, Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Erythem...	OMIM:614204
Absence Of Fingerprints-Congenital Milia Syndrome	Milia, Camptodactyly of finger, Thin skin, Hypohidrosis	ORPHA:1658
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Abnormal immunoglobulin level, Increased circulating IgE level, Chronic mucocutaneous can...	ORPHA:98813
Nephroblastoma	Hematuria, Nephroblastoma	ORPHA:654
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure ...	OMIM:618963
Immunodeficiency, Common Variable, 1	Impaired T cell function, Pneumonia, Recurrent pneumonia, Bronchiectasis, Decreased circulating t...	OMIM:607594
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ...	OMIM:616576
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Filippi Syndrome	Postnatal growth retardation, Cryptorchidism, Sparse hair, Ambiguous genitalia, Intrauterine grow...	OMIM:272440
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Splenomegaly, Leukocytos...	OMIM:259720
Rhabdoid Tumor	Hematuria, Renal neoplasm	ORPHA:69077
Aicardi-Goutieres Syndrome 9	Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Chilblains, Acute pancreati...	OMIM:619487
Diffuse Alveolar Hemorrhage	Hematuria, Decreased circulating complement C3 concentration, Proteinuria, Decreased circulating ...	ORPHA:90060
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Patent ductus arteriosus, Cholestasis, Anemia, Ascites, Protein-los...	OMIM:608104
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Pulmonary artery stenosis, Sex reversal,...	OMIM:611812
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Short stature, Interphalangeal joint contracture of finger, Widow's peak, Knee flexion contractur...	OMIM:606242
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Preauricular pit, Curly hair, Slow-growing hair, Short stature, Polyhydramnios, Highly arched eye...	OMIM:617506
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Noonan Syndrome 6	Curly hair, Short stature, Edema, Polyhydramnios, Long eyebrows, Cryptorchidism, Low posterior ha...	OMIM:613224
Immunodeficiency 48	Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Fa...	OMIM:269840
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Increased circulating IgM level, Decreased circulating IgG2 level, Bronchiectasis, Decreased spec...	OMIM:615513
Arthrochalasia Ehlers-Danlos Syndrome	Inguinal hernia, Severe short stature, Femoral hernia, Scarring, Abnormality of subcutaneous fat ...	ORPHA:1899
Glucose-Galactose Malabsorption	Hematuria, Renal insufficiency, Nephrolithiasis	ORPHA:35710
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Silver-Russell Syndrome 2	Intrauterine growth retardation, Short stature, Thin skin, Hyperhidrosis	OMIM:618905
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo...	OMIM:201810
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Short stature, Sparse eyebrow, Tiger tail banding, Reduced hair ...	OMIM:300953
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D...	ORPHA:49041
Classical-Like Ehlers-Danlos Syndrome Type 1	Thin skin, Adrenal hypoplasia	ORPHA:230839
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis	OMIM:618913
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Short stature, Insulin-resistant d...	OMIM:268020
Immunodeficiency 85 And Autoimmunity	Lymphopenia, Villous atrophy, Failure to thrive in infancy, Eczema, Oligoarthritis, Growth delay,...	OMIM:619510
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Majeed Syndrome	Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Pustule, ...	ORPHA:77297
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Hyperkeratosis, Interstitial pneumonitis, Granu...	ORPHA:454831
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Hypergonadotropic Hypogonadism-Cataract Syndrome	Hypergonadotropic hypogonadism, Short stature, Increased circulating gonadotropin level, Absence ...	ORPHA:2410
Glycogen Storage Disease Vii	Hematuria, Gout, Exercise-induced myoglobinuria	OMIM:232800
Trimethylaminuria	Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia	OMIM:602079
Acrokeratoelastoidosis Of Costa	Hypergranulosis, Palmoplantar hyperkeratosis, Granulomatosis, Orthokeratosis, Hyperkeratotic papu...	ORPHA:38
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Failure to thrive, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proporti...	OMIM:619824
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Glycogen Storage Disease Ia	Proteinuria, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Decreased glomerular filt...	OMIM:232200
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Short stature, Recurrent pneumonia, Disproportionate short-trunk short stature, Reduc...	OMIM:602271
Werner Syndrome	Abnormal hair whorl, Premature graying of hair, Thyroid carcinoma, Aplasia/Hypoplasia of the skin...	ORPHA:902
Legionnaires Disease	Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Hepatitis, Endocarditis, Hematuria, ...	ORPHA:549
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating corticosterone level, Increased circulating 18-hydroxycortisone level, Dehy...	OMIM:610600
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis	ORPHA:66661
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Chronic pancreatitis, Gout, Hematuria, Focal segmental glomerul...	OMIM:232240
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Skin dimple, Atrophic scars, Sp...	ORPHA:79133
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy	ORPHA:1962
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina...	OMIM:129900
Palmoplantar Keratoderma And Congenital Alopecia 2	Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly	OMIM:212360
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker...	OMIM:617526
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome	OMIM:201710
Takayasu Arteritis	Increased inflammatory response, Skin ulcer, Weight loss, Hyperhidrosis, Arthritis, Gastrointesti...	ORPHA:3287
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Hepatomegaly, Recurrent skin infections, Short stature, Postnatal growth retardation...	OMIM:620210
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Pallor, Thrombocytopenia	ORPHA:517
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni...	ORPHA:1008
Chronic Granulomatous Disease	Hepatomegaly, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Malabsorption, Spleno...	ORPHA:379
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Villous atrophy, T lymphocytopenia, Scaling skin, Hypothyroidism, Hemolytic anemia, Psoriasiform ...	OMIM:606367
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Short stature, Hyperechogenic panc...	OMIM:617052
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp...	OMIM:618986
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Growth delay, T lymphocytopenia, Colitis, B l...	OMIM:619164
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo...	ORPHA:911
Poikiloderma With Neutropenia	Plantar hyperkeratosis, Skin rash, Short stature, Splenomegaly, Recurrent pneumonia, Growth delay...	OMIM:604173
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Inflammatory abnormality of the skin, Villous atrophy, Micr...	ORPHA:398063
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Dermal atrophy, Alopecia of scalp, Sparse body hair, Dystro...	OMIM:617294
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha...	OMIM:603552
Prolidase Deficiency	Recurrent respiratory infections, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology,...	ORPHA:742
Meier-Gorlin Syndrome 1	Death in infancy, Hyperconvex nail, Cryptorchidism, Hypoplastic labia minora, Emphysema, Flexion ...	OMIM:224690
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Petechiae, Cardiomegaly, Splenomegaly, Dysphagia, Hepatosplenomegaly, Anemia, Hyper...	OMIM:608013
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplan...	ORPHA:312
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid...	ORPHA:85445
Sjögren-Larsson Syndrome	Short stature, Erythema, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory abnormality of the eye	ORPHA:816
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased response to growt...	ORPHA:811
Hereditary Mucoepithelial Dysplasia	Hematuria, Abnormality of the bladder	ORPHA:1839
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt...	OMIM:604777
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233710
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral pneumonia	OMIM:619773
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res...	ORPHA:183
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,...	ORPHA:3226
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Growth delay, Death in infancy, Dehydration	OMIM:251850
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Proteinuria, Pneumonia, Skin rash, Glomerular sclerosis, Nephropathy	ORPHA:247691
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar...	ORPHA:432
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Lymphocytic interstitial pneumonia,...	OMIM:618495
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Ige Responsiveness, Atopic	Increased circulating IgE level, Eczema, Allergic rhinitis	OMIM:147050
Immunodeficiency 105	Skin rash, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu...	OMIM:619924
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Lysinuric Protein Intolerance	Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Decreased circulating antibody level,...	ORPHA:470
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Short stature, Bronchiectasis, Abnormal central microtubular pa...	OMIM:612649
Glycogen Storage Disease Ib	Proteinuria, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Inflammation of the large...	OMIM:232220
Immunodeficiency 31C	Villous atrophy, Protein-losing enteropathy, Recurrent vulvovaginal candidiasis, Hypothyroidism, ...	OMIM:614162
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Short stature, Camptodactyly of finger, Moderately short stature, Cigarette-paper scars, Thin ski...	OMIM:612350
Cednik Syndrome	Nephrotic syndrome, Proteinuria	ORPHA:66631
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple...	OMIM:615631
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Insulin-Resistance Syndrome Type B	Proteinuria, Pneumonia, Decreased circulating complement factor B concentration, Increased circul...	ORPHA:2298
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Nicolaides-Baraitser Syndrome	Alopecia, Severe short stature, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Cr...	ORPHA:3051
Sting-Associated Vasculopathy, Infantile-Onset	Myositis, Skin rash, Increased circulating IgA level, Pustule, Increased circulating IgG level, P...	OMIM:615934
Epidermolytic Palmoplantar Keratoderma	Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype...	ORPHA:2199
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:609049
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit...	OMIM:137940
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Osteomyelitis, Skin rash, Pust...	OMIM:612852
Cardiocranial Syndrome, Pfeiffer Type	Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias, Short stature, ...	ORPHA:2872
Preeclampsia	Chronic kidney disease, Acute kidney injury, Proteinuria, Abnormality of the kidney	ORPHA:275555
Dyskeratosis Congenita	Abnormality of neutrophils, Anorectal anomaly, Hyperhidrosis, Periodontitis, Skin vesicle, Hepato...	ORPHA:1775
Short Syndrome	Inguinal hernia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Absence of subc...	OMIM:269880
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Recurrent skin infections, Urinary bladder inflammation, Hydronephrosis, Hema...	ORPHA:79403
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl...	ORPHA:158684
Fg Syndrome 3	Death in infancy, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Joint contracture	OMIM:300406
Lactase Deficiency, Congenital	Decreased small intestinal mucosa lactase level, Dehydration	OMIM:223000
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Thro...	ORPHA:167
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Skin ulcer, Melanocytic nevus, Nail pits, Fine hair, ...	ORPHA:978
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Short sta...	ORPHA:2968
Ciliary Dyskinesia, Primary, 46	Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Reduced sperm motility	OMIM:619436
Angiostrongyliasis	Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati...	ORPHA:74
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, He...	OMIM:616100
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Wiskott-Aldrich Syndrome	Eczema, Reduced natural killer cell activity, Increased circulating IgA level, Increased circulat...	OMIM:301000
Lenz-Majewski Hyperostotic Dwarfism	Inguinal hernia, Hypospadias, Anterior pituitary hypoplasia, Short stature, Cryptorchidism, Elbow...	OMIM:151050
Osteopenia And Sparse Hair	Sparse hair	OMIM:259690
Autosomal Recessive Spastic Paraplegia Type 46	Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm...	ORPHA:320391
Lcat Deficiency	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ...	ORPHA:650
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Xerostomia, Hypohidrosis, Aplasia/Hypoplasia of the ey...	ORPHA:238468
Immunoglobulin A Deficiency 2	Decreased circulating IgA level	OMIM:609529
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive	Aplasia cutis congenita, Congenital absence of skin of limbs	OMIM:600360
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia	OMIM:616744
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Death in infancy, Giant cell hepatitis, Nephrogenic diabetes insip...	OMIM:208085
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi...	OMIM:162000
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, Decreased circula...	OMIM:243150
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Maternal Uniparental Disomy Of Chromosome 2	Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te...	ORPHA:96179
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis	OMIM:616239
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc...	OMIM:102200
Lessel-Kubisch Syndrome	Sparse pubic hair, Premature graying of hair, Hypogonadism, Short stature	OMIM:618681
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Moderately short stature, Flexion contracture, Thin skin	ORPHA:157965
X-Linked Hypohidrotic Ectodermal Dysplasia	Hypohidrosis, Sparse hair, Type I diabetes mellitus, Anterior hypopituitarism, Sparse body hair, ...	ORPHA:181
Lamellar Ichthyosis	Recurrent respiratory infections, Short stature, Dehydration, Sparse hair, Abnormality of the nai...	ORPHA:313
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Leukocytosis, Skin ulcer, D...	OMIM:615688
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Recurrent loss of toenails and fingernails, Erythematous plaque, Thin skin, Dermal atrophy, Dystr...	ORPHA:158673
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:161200
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria	OMIM:620010
Focal Dermal Hypoplasia	Macule, Acute hepatic failure, Alopecia, Aplasia/Hypoplasia of the skin, Inguinal hernia, Abnorma...	ORPHA:2092
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Angular cheilitis, Acantholysis, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyperkeratosis,...	OMIM:616295
Deafness, Neural, With Atypical Atopic Dermatitis	Late onset atopic dermatitis, Increased circulating IgE level	OMIM:221700
Corticosterone Methyloxidase Type I Deficiency	Growth delay, Decreased circulating aldosterone level, Increased circulating renin level, Dehydra...	OMIM:203400
Idiopathic Pulmonary Hemosiderosis	Glomerulonephritis	ORPHA:99931
Primary Intestinal Lymphangiectasia	Lymphopenia, Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Functional ab...	ORPHA:90362
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM l...	ORPHA:37748
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infections, Pyod...	ORPHA:486
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome	OMIM:201910
Hyperimmunoglobulinemia D With Periodic Fever	Arthritis, Peritonitis, Recurrent aphthous stomatitis, Increased circulating IgA level	ORPHA:343
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis	OMIM:214100
Gaucher Disease Type 1	Hematuria, Osteoarthritis, Proteinuria, Increased circulating antibody level	ORPHA:77259
Generalized Pseudohypoaldosteronism Type 1	Proportionate short stature, Glucocortocoid-insensitive primary hyperaldosteronism, Dehydration, ...	ORPHA:171876
Immunodeficiency 46	Chronic oral candidiasis, Intermittent thrombocytopenia, Decreased circulating antibody level, Co...	OMIM:616740
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Xeroderma Pigmentosum	Macule, Alopecia, Short stature, Hypermelanotic macule, Cryptorchidism, Hypopigmented skin patche...	ORPHA:910
Niemann-Pick Disease, Type B	Hepatomegaly, Short stature, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue his...	OMIM:607616
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgM level, Panniculitis, Skin rash, Increased circulating IgA level	OMIM:617099
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia...	ORPHA:453533
Birt-Hogg-Dubé Syndrome	Skin tags, Pneumothorax, Multiple lipomas, Pulmonary sequestration, Parathyroid adenoma, Emphysem...	ORPHA:122
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Acantholysis, Weight loss	ORPHA:704
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G...	ORPHA:37042
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Short stature, Abnormal hair morphology, Generalized lipodystrophy, Dermal atrophy, Thi...	ORPHA:90154
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Intrauterine growth retardation, Thromb...	OMIM:615010
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag	Monoclonal immunoglobulin M proteinemia	ORPHA:639
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Ectodermal Dysplasia, Trichoodontoonychial Type	Lipoatrophy, Abnormal eyelash morphology, Melanocytic nevus, Sparse hair, Abnormal toenail morpho...	ORPHA:1818
Omenn Syndrome	Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thickened s...	ORPHA:39041
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:1192
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Sinusitis, Recurrent urinary tract infections, Glomerulonephritis, Fasciitis...	ORPHA:36234
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone stimulation te...	OMIM:615280
Cystic Echinococcosis	Membranous nephropathy, Increased circulating antibody level, Renal cyst	ORPHA:400
Lymphatic Malformation 12	Inguinal hernia, Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Pleural th...	OMIM:620014
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Recurrent skin infections, Partial absence of ...	OMIM:301082
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:86818
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbullous icht...	OMIM:617571
Vipoma	Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Follicular thyroid carcinoma, E...	ORPHA:97282
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Decreased circulating total IgM	OMIM:610798
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Short stature, Eczema, Autoimmune thrombocytopenia, Celiac disease, ...	OMIM:615952
Immunodeficiency 60 And Autoimmunity	Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, Colitis, Decreased circulati...	OMIM:618394
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Malakoplakia	Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Orchitis, Urinary bladder ...	ORPHA:556
Recessive X-Linked Ichthyosis	Cryptorchidism, Hypohidrosis, Hyperkeratosis, Ichthyosis, Dry skin	ORPHA:461
Spondylodysplastic Ehlers-Danlos Syndrome	Sparse scalp hair, Agenesis of pineal gland, Numerous nevi, Short stature, Multiple joint contrac...	ORPHA:536471
Restrictive Dermopathy 1	Hypospadias, Sparse eyelashes, Polyhydramnios, Adrenal hypoplasia, Absent eyelashes, Sparse eyebr...	OMIM:275210
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Anhidrosis, Absent nipple, Brittle hair, Sparse eyelashes, Concave nail, Aplasia/...	OMIM:305100
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Inguinal hernia, Short stature, Cryptorchidism, Growth delay, Thin skin	ORPHA:2719
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Absent circulating B cel...	OMIM:620282
Myh9-Related Disease	Nephropathy, Renal insufficiency, Proteinuria, Nephritis	ORPHA:182050
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal...	ORPHA:232
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Increased circulating androstenedi...	OMIM:202010
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Pyoderma Gangrenosum	Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Increased circulating antibod...	ORPHA:48104
Xq28 (MECP2) duplication	Functional abnormality of the bladder, Decreased circulating IgA level	DECIPHER:45
Immunoglobulin A Deficiency 1	Decreased circulating IgA level	OMIM:137100
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Absent outer dynein arms, Bronchiectasis, Infertility, Recurren...	OMIM:615500
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Combined Malonic And Methylmalonic Acidemia	Elevated hepatic transaminase, Dehydration	ORPHA:289504
Xp22.13P22.2 Duplication Syndrome	Short stature, Congenital diaphragmatic hernia, Recurrent upper respiratory tract infections, Pol...	ORPHA:284180
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st...	OMIM:300048
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi...	OMIM:617241
Wolman Disease	Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Growth delay, Adr...	ORPHA:75233
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Dehydration, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, I...	OMIM:177735
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased circu...	OMIM:614069
Hemophilia B	Hematuria	ORPHA:98879
Enteric Anendocrinosis	Type I diabetes mellitus, Portal hypertension, Dehydration	ORPHA:83620
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Short stature, Bronchiectasis, Abnormal central microtubular pa...	OMIM:612650
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Hemorrhagic Fever-Renal Syndrome	Increased circulating interleukin 6 concentration, Anuria, Proteinuria, Glomerulonephritis, Pneum...	ORPHA:340
Wolcott-Rallison Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Neonatal insulin-dependent diabetes mellitu...	ORPHA:1667
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal interstitial edema, Sterile pyuria, Tubulointerstitial nephritis, Aminoaciduria, Renal Fanc...	ORPHA:91500
Ciliary Dyskinesia, Primary, 14	Male infertility, Recurrent respiratory infections, Absent inner dynein arms, Chronic bronchitis,...	OMIM:613807
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic...	ORPHA:416
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease	OMIM:166300
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Short stature, Postnatal growth retardation, Fine hair, Premature graying of hair, Thin skin, Nai...	OMIM:612199
Adult Syndrome	Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, Nail pits, Dermal atrophy, Hyp...	OMIM:103285
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Severe short stature, Camptodactyly of finger, Hypopigmented skin patches, Fingernail d...	ORPHA:2251
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Growth delay, Atrophic scars, Nail dystrophy, Sparse body hair, Aplas...	ORPHA:79402
Tularemia	Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology...	ORPHA:3392
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Atrichia, Nail dystrophy, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Short stature, Cryptorchidism, Fine hair, Growth delay, Delayed puberty, Sparse hair, Intrauterin...	OMIM:616817
Chronic Hiccup	Dehydration	ORPHA:396
Cystinosis	Short stature, Portal hypertension, Nephrogenic diabetes insipidus, Dehydration, Delayed puberty,...	ORPHA:213
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Postnatal...	OMIM:614732
Boutonneuse Fever	Renal insufficiency, Skin rash, Maculopapular exanthema, Increased circulating IgG level, Increas...	ORPHA:83313
Carney Complex	Atypical nevi in non-sun exposed areas, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig ce...	ORPHA:1359
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid...	OMIM:277400
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hyperkeratosis, Plantar hyperkeratosis, Palmar hyperkeratosis	ORPHA:79399
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Dry skin, Lymphadenopathy, Palmoplanta...	ORPHA:3162
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Bronch...	OMIM:617091
Keratoderma Hereditarium Mutilans	Hypogonadotropic hypogonadism, Cleft palate, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosi...	ORPHA:494
Borjeson-Forssman-Lehmann Syndrome	Hypoplasia of penis, Small scrotum, Short stature, Cryptorchidism, Camptodactyly of toe, Hypogona...	ORPHA:127
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury	OMIM:268200
Congenital Alpha2-Antiplasmin Deficiency	Hematuria	ORPHA:79
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Abnormal renal physiology	OMIM:223900
Panhypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95513
Immunoglobulin A Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Pustule, Orchitis, Hem...	ORPHA:761
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Decreased circulating total IgM, Bronchiectasis	OMIM:615139
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Microscopic hematuria, Proteinuria, Abnormal renal physiology	OMIM:274150
Lichen Planopilaris	Hyperkeratosis, Abnormal intestine morphology, Hepatitis, Skin ulcer	ORPHA:525
Premature Aging Syndrome, Penttinen Type	Lipoatrophy, Skin nodule, Elevated circulating thyroid-stimulating hormone concentration, Corneal...	OMIM:601812
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level	OMIM:103900
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:618987
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,...	ORPHA:91347
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Hypohidrosis, Hypogonadism, Spa...	ORPHA:2316
Proteasome-Associated Autoinflammatory Syndrome 5	Skin rash, Splenomegaly, Failure to thrive in infancy, Hepatomegaly	OMIM:619175
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bronchiectasis, ...	OMIM:619752
Central Diabetes Insipidus	Diabetes insipidus, Dehydration	ORPHA:178029
Alpha-Methylacetoacetic Aciduria	Dehydration	OMIM:203750
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Failure to thrive	ORPHA:172
Dystrophic Epidermolysis Bullosa Pruriginosa	Hyperkeratosis, Increased circulating IgE level	ORPHA:89843
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria	OMIM:615605
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Diarrhea 4, Malabsorptive, Congenital	Dehydration	OMIM:610370
Adenohypophysitis	Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc...	ORPHA:95512
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Renal Nutcracker Syndrome	Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis	ORPHA:71273
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Decreased circulating complemen...	ORPHA:289390
Noonan Syndrome 8	Left ventricular hypertrophy, Eczema, Short stature, Large for gestational age, Cryptorchidism, P...	OMIM:615355
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Recurrent skin infections, Decreased circulating IgA level, Decreased circulating antibody level	OMIM:617744
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ...	OMIM:209920
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Vesicoureteral re...	ORPHA:261222
Griscelli Syndrome	Hepatomegaly, Short stature, Abnormality of neutrophils, Splenomegaly, Pyloric stenosis, Jaundice...	ORPHA:381
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Relapsing Polychondritis	Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna...	ORPHA:728
Combined Malonic And Methylmalonic Aciduria	Dehydration	OMIM:614265
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Recurrent respiratory infections, Alopecia, Small scrotum, Abnormal dental enamel morphology, Hig...	ORPHA:3253
Stuve-Wiedemann Syndrome 1	Death in infancy, Short stature, Pulmonary arterial medial hypertrophy, Elbow flexion contracture...	OMIM:601559
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,...	ORPHA:411634
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia	ORPHA:163596
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Petechiae, Reduced natural killer cell activity...	ORPHA:540
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Short stature, Absent eyelashes, Flexion contracture, Brea...	ORPHA:90153
Igg4-Related Aortitis	Increased inflammatory response, Increased circulating IgG4 level, Increased circulating IgE leve...	ORPHA:449400
Microsporidiosis	Pneumonia, Bronchitis, Abnormality of the parathyroid gland, Skin nodule, Abnormal endometrium mo...	ORPHA:2552
Immunodeficiency 43	Decreased specific antibody response to polysaccharide vaccine, Abnormal circulating IgA level, B...	OMIM:241600
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Proteinuria	OMIM:192315
Ruvalcaba Syndrome	Hematuria, Abnormal localization of kidney	ORPHA:3121
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Increased circulati...	OMIM:618982
Urachal Cyst	Dysuria, Pyuria, Urachus fistula, Peritonitis, Hematuria	ORPHA:488
Immunodeficiency, Common Variable, 11	Inflammation of the large intestine, Decreased circulating IgG level, Crohn's disease, Increased ...	OMIM:615767
Periventricular Nodular Heterotopia	Thin skin, Hernia, Periventricular heterotopia	ORPHA:98892
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul...	OMIM:202700
Relapsing Fever	Hematuria, Abnormality of the urinary system, Acute kidney injury	ORPHA:91547
Isobutyryl-Coa Dehydrogenase Deficiency	Dehydration	ORPHA:79159
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Thickened skin, Erythroderm...	ORPHA:79456
2Q32Q33 Microdeletion Syndrome	Short stature, Fine hair, Growth delay, Sparse hair, Decreased testicular size	ORPHA:251019
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glyco...	OMIM:613404
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:403
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis, Gastroesophageal reflux	ORPHA:36386
Ollier Disease	Lymphangioma, Skin ulcer, Anemia	ORPHA:296
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Tubuloi...	ORPHA:79078
Non-Epidermolytic Palmoplantar Keratoderma	Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer	ORPHA:2337
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Increased circulating IgM level, Monocy...	ORPHA:2688
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed...	OMIM:612702
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Thickened skin	OMIM:247100
Chromosome 19Q13.11 Deletion Syndrome, Distal	Bifid scrotum, Reduced subcutaneous adipose tissue, Inguinal hernia, Hypospadias, Sparse eyelashe...	OMIM:613026
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ...	OMIM:612281
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Increased circ...	ORPHA:169160
Hawkinsinuria	Sparse hair, Hypothyroidism, Fine hair	ORPHA:2118
Glycogen Storage Disease V	Dark urine, Myoglobinuria	OMIM:232600
Tyrosinemia, Type I	Renal insufficiency, Nephrocalcinosis, Renal Fanconi syndrome, Glomerular sclerosis, Enlarged kid...	OMIM:276700
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Thrombocytopenia 1	Increased circulating IgE level, Eczema, Increased circulating IgA level	OMIM:313900
Gangliocytoma	Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent...	ORPHA:251937
Hypotrichosis Simplex Of The Scalp	Parakeratosis, Allergic rhinitis, Increased circulating IgE level, Atopic dermatitis, Hyperkerato...	ORPHA:90368
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Small for gestational age, Short stature, Malabsorption, Dry skin, Hyperk...	OMIM:601675
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Inguinal hernia, Atrophic scars, Thin skin	OMIM:225320
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d...	ORPHA:91355
Keratoderma Hereditarium Mutilans With Ichthyosis	Parakeratosis, Scaling skin on fingertip, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis,...	ORPHA:79395
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eczema, Increased circulating IgE level, Recurrent pneu...	OMIM:618282
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Overweight, Cryptorchidism, Gastroesophageal reflux, High palate, Follicular hyperkeratosis, Dela...	ORPHA:486815
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Type I diabetes mellitus, Death in adolescence, Dehydration, Death in childhood	OMIM:560000
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer	ORPHA:743
Graham Little-Piccardi-Lassueur Syndrome	Perifollicular hyperkeratosis	ORPHA:505
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H...	ORPHA:158057
Hypercalcemia, Infantile, 1	Decreased circulating parathyroid hormone level, Dehydration	OMIM:143880
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Hepatitis, Bronchiectasis, Dehydration, Cellulitis	ORPHA:33110
Klippel-Trénaunay Syndrome	Hematuria	ORPHA:90308
Tarp Syndrome	Extramedullary hematopoiesis, Cryptorchidism, Cleft palate, Tongue nodules, Glossoptosis, Abnorma...	ORPHA:2886
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R...	ORPHA:51636
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Recurrent pneumonia, Synovitis...	ORPHA:47612
Q Fever	Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditis, Hepatitis, Endocard...	ORPHA:781
Focal Facial Dermal Dysplasia Type Iv	Abnormal mast cell morphology, Cleft palate	ORPHA:398189
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent inner dynein arms, Chronic bronchitis, Absent outer dynein arms, Recurre...	OMIM:614874
Rift Valley Fever	Skin rash, Hepatitis, Uveitis, Hematuria, Increased circulating IgG level, Increased circulating ...	ORPHA:319251
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:611926
Axin2-Related Attenuated Familial Adenomatous Polyposis	Sparse hair, Abnormal odontoid tissue morphology	ORPHA:401911
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis	OMIM:131850
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocytopenia	ORPHA:79312
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Hyperparathyroidism, Recurrent respiratory infections, Short stature, Death in...	ORPHA:534
Pfapa Syndrome	Hepatomegaly, Malabsorption, Splenomegaly, Weight loss, Lymphadenopathy, Arthritis, Infectious en...	ORPHA:42642
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Chronic bronchitis, Abnormal axonemal organization of respirato...	OMIM:613808
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Atypical scarring of skin, Thin skin, Striae distensae	OMIM:225310
Paternal Uniparental Disomy Of Chromosome 6	Hypoplastic fingernail, Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptor...	ORPHA:96191
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Skin ulcer, Weight loss, Hepatosplenomegaly, Panniculitis, Hemophagocytosis	ORPHA:86884
Irida Syndrome	Intrahepatic cholestasis, Hyperkeratosis, Abnormal intestine morphology, Pallor, Ichthyosis	ORPHA:209981
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 98 With Autoinflammation, X-Linked	Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopath...	OMIM:301078
Atrophoderma Vermiculata	Erythema, Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:79100
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Prader-Willi Syndrome	Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test...	ORPHA:739
Immunodeficiency 54	Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Adrenoc...	OMIM:609981
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Hyperhidrosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bull...	OMIM:613576
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Decreased fertility, G...	OMIM:234050
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,...	OMIM:613011
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, L...	OMIM:615381
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent infection of the gastrointestinal tract, Pancytopenia, Autoimmune hemolytic anemia, Sin...	ORPHA:572
Juvenile Hyaline Fibromatosis	Death in infancy, Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Abnormal hair...	ORPHA:2028
X-Linked Acrogigantism	Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Elevated circulating growt...	ORPHA:300373
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Hypoplastic fingernail, Inguinal hernia, Hypospadias, Dysmenorrhea, Postnatal grow...	ORPHA:397590
Sim1-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche...	ORPHA:398079
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a...	ORPHA:79301
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Azoospermia, Hypogon...	OMIM:615234
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero...	OMIM:175500
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Cachexia, Malabsorption, Splenomegaly, Furrowed tongue, Hamar...	ORPHA:2930
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Ablepharon Macrostomia Syndrome	Omphalocele, Absent eyebrow, Hypoplasia of penis, Camptodactyly of finger, Abnormal hair pattern,...	ORPHA:920
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Aspira...	ORPHA:1018
Bernard-Soulier Syndrome	Partially duplicated kidney, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced...	ORPHA:274
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Aplasia/Hypoplasia of the skin, Thin skin	ORPHA:745
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat...	ORPHA:99885
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pustule, Crusting erythematous dermatitis, Erythema, Scali...	ORPHA:79481
Chronic Mucocutaneous Candidiasis	Recurrent urinary tract infections, Skin rash, Cheilitis, Hepatitis, Hematuria	ORPHA:1334
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Failure to thrive, Myositis, Sinusitis, Skin rash, Splenomegaly, Lymphadenopathy, A...	OMIM:617591
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Primary Ciliary Dyskinesia	Male infertility, Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening...	ORPHA:244
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Increased circulating antibody level	ORPHA:411593
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria	OMIM:616026
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Cryptorchidism, Alopecia, Focal dermal aplasia/hypoplasia	OMIM:164180
Autoinflammatory Disease, Systemic, X-Linked	Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated...	OMIM:301081
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Central hypothyroi...	ORPHA:514
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:259900
Spondyloenchondrodysplasia	Proteinuria, Pneumonia, Skin rash, Chronic kidney disease, Hepatitis, Hematuria, Arthritis, Juven...	ORPHA:1855
Ichthyosis, Hystrix-Like, With Deafness	Palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Cobblestone-like hyperkeratosis, Palmopl...	OMIM:602540
Brucellosis	Anterior uveitis, Pericarditis, Osteomyelitis, Glomerulonephritis, Pneumonia, Orchitis, Myocardit...	ORPHA:1304
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperaldosteronism, Increased circulating renin level, Dehydration	OMIM:620126
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra...	ORPHA:2614
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Patent ductus arteriosus, Comedonal acne, Follicular hyperkeratosis	OMIM:615147
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size	OMIM:614880
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Methylmalonic aciduria, Decreas...	OMIM:275350
Mastocytosis, Cutaneous	Cutaneous mastocytosis, Erythema	OMIM:154800
Ramon Syndrome	Hyperkeratosis, Failure to thrive, Narrow palate	ORPHA:3019
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Gastrointestinal inflammation, Growth delay, Palmoplantar keratoderma, Skin vesicle, Hyperkeratot...	ORPHA:79410
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Periodontitis, Hydronephrosis	OMIM:619269
Angioma Serpiginosum, X-Linked	Hyperkeratosis	OMIM:300652
Flynn-Aird Syndrome	Hyperkeratosis	OMIM:136300
Wiedemann-Rautenstrauch Syndrome	Flexion contracture, Hypoplasia of the thymus, Absent eyebrow, Alopecia, Hypospadias, Short statu...	OMIM:264090
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Increased circulating IgE level, Recurrent pn...	OMIM:243700
Fetal And Neonatal Alloimmune Thrombocytopenia	Hematuria	ORPHA:853
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	OMIM:300845
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Growth delay, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythro...	OMIM:614457
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,...	OMIM:233450
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperaldosteronism, Increased circulating renin level, Dehydration	OMIM:620125
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,...	OMIM:615122
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Decreased liver function, Dehydration	OMIM:602199
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired neutrophil chemotaxis	OMIM:260570
Recon Progeroid Syndrome	Short stature, Hyperconvex thumb nails, Absent lower eyelashes, Growth delay, Thin skin, Hirsutism	OMIM:620370
Cinca Syndrome	Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Arthritis, G...	OMIM:607115
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Short stature, Anemia, Hepatosplenomegaly	OMIM:259730
Dopamine Beta-Hydroxylase Deficiency	Retrograde ejaculation, Hyperinsulinemia, Dehydration	ORPHA:230
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Perianal erythema, Duodenitis, Pustule, Increased circulating IgE level, Periora...	OMIM:614328
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent p...	OMIM:300755
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein arms, Infertility...	OMIM:615444
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrobulbar optic neuritis,...	ORPHA:1451
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Small for gestational age, Short stature, Ste...	OMIM:260400
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat...	ORPHA:2235
Pancreatic Colipase Deficiency	Megaloblastic anemia, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine panc...	ORPHA:309108
Propionic Acidemia	Propionyl-CoA carboxylase deficiency, Short stature, Pancreatitis, Dehydration	OMIM:606054
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t...	OMIM:614748
Congenital Factor V Deficiency	Hematuria	ORPHA:326
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Acantholysis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Palmoplantar keratoderma, P...	OMIM:605676
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Immunodeficiency 15B	Agammaglobulinemia, Chronic oral candidiasis, Decreased lymphocyte proliferation in response to m...	OMIM:615592
Immunodeficiency 7	Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Hypereosinophi...	OMIM:615387
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Cryptorchidism, Premature graying of hair, Pulmonary fibrosis, Nail dystroph...	OMIM:620365
Diamond-Blackfan Anemia 6	Macrocytic anemia, Patent ductus arteriosus, Cleft palate, Persistence of hemoglobin F, Growth de...	OMIM:612561
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Stillbirth, High palate, Con...	ORPHA:85212
Cholesteryl Ester Storage Disease	Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen...	OMIM:278000
Carnitine Deficiency, Systemic Primary	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:212140
Glass Syndrome	Inguinal hernia, Short stature, Long eyelashes, Thin skin, Nail dysplasia, Camptodactyly, Sparse ...	OMIM:612313
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Portal hypertension, Pancreatic cysts, Dehydration, Pulmonary hypoplasia, Neonatal death, Oligohy...	OMIM:263200
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Skin ulcer, Arthritis	ORPHA:231
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis	ORPHA:79151
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Short stature, Esophageal stricture, Palmoplantar hyperkeratosis, ...	OMIM:613989
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Diabetes mellitus, Hyperthyroidism, Hypothyroidism, Thin skin	ORPHA:449291
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Enterocolitis, Ulcerative colitis, Decreased circulating total IgM, Interstitial pneumonitis, Dec...	OMIM:614878
Common Variable Immunodeficiency	Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimmune thrombocytopenia, Gastroint...	ORPHA:1572
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Acantholysis, Kerat...	ORPHA:95455
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Aminoaciduria, Proteinuria	OMIM:603585
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Sparse pub...	OMIM:308750
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Parakeratosis, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing...	OMIM:607626
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Short stature, Splenomegaly, Enlarged tonsils, Bronchiectasis, C...	OMIM:616005
Fusariosis	Brain abscess, Fasciitis, Lung abscess, Sinusitis, Myositis, Maculopapular exanthema, Pneumonia, ...	ORPHA:228119
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Eosinophilia, Increased circulating IgE level, Skin ulcer, Clef...	ORPHA:2314
Neuropathy, Hereditary Sensory, Type If	Hyperkeratosis, Osteomyelitis	OMIM:615632
Free Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Skin ulcer, Ascites	ORPHA:834
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Sparse hair, Hypogonadism, Hypoplastic nipples, Small nail	OMIM:273400
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Ne...	OMIM:219800
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Combined Deficiency Of Factor V And Factor Viii	Hematuria	ORPHA:35909
Ruijs-Aalfs Syndrome	Lipodystrophy, Short stature, Elbow flexion contracture, Premature graying of hair, Hypogonadism,...	OMIM:616200
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Superficial Epidermolytic Ichthyosis	Ichthyosis, Erythema, Palmoplantar keratoderma, Acantholysis	ORPHA:455
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Joubert Syndrome 37	Short stature, Cryptorchidism, Sparse hair, Micropenis, Decreased testicular size	OMIM:619185
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Reduced subcutaneous adipose tis...	OMIM:606721
Bathing Suit Ichthyosis	Parakeratosis, Thickened skin, Palmoplantar hyperkeratosis, Hypohidrosis, Ichthyosis, Palmoplanta...	ORPHA:100976
Peeling Skin Syndrome 5	Hyperkeratosis, Scaling skin	OMIM:617115
Ichthyosis, Congenital, Autosomal Recessive 2	Anhidrosis, Hypergranulosis, Erythema, Hypohidrosis, Growth delay, Hyperkeratosis, Congenital ich...	OMIM:242100
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Synophrys, Widow's peak, Upper eyelid edema, Thin skin, Thin eyebrow, Cafe-au-lait spot	OMIM:617804
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Glycosylphosphatidylinositol Biosynthesis Defect 25	Short stature, Ankle flexion contracture, Low alkaline phosphatase, Coarse hair, Death in childho...	OMIM:619985
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres...	ORPHA:251274
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Short stature, Pulmonary artery stenosis, Abnormality of the anterior pit...	ORPHA:75389
Lead Poisoning	Decreased female libido, Miscarriage, Abnormality of the menstrual cycle, Oligozoospermia, Decrea...	ORPHA:330015
Helsmoortel-Van Der Aa Syndrome	Recurrent respiratory infections, Short stature, Decreased response to growth hormone stimulation...	OMIM:615873
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Failure to thrive, Sinusitis, Impaired T cell function, Pure red cel...	OMIM:613179
Immunodeficiency, Common Variable, 10	Psoriasiform dermatitis, Recurrent pneumonia, Decreased circulating total IgM, Recurrent sinusiti...	OMIM:615577
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Atelecta...	OMIM:610978
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Villous atrophy...	OMIM:557000
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Death in early adulthood, Alopecia, Brittle hair, D...	OMIM:608612
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized lymphadenopathy, Splenomegaly, L...	ORPHA:829
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Colitis, Acute kidney i...	ORPHA:90068
Gaucher Disease Type 3	Hematuria, Proteinuria, Increased circulating antibody level	ORPHA:77261
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Pustule, Myocarditis, Erythema, Hepatitis, Thyroiditis, Weight loss, Lym...	ORPHA:139402
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Castleman Disease	Hematuria, Renal insufficiency, Ureteral obstruction, Increased circulating interleukin 6 concent...	ORPHA:160
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Proteinuria, Abnormality of the kidney	ORPHA:369
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Familial Cold Urticaria	Dehydration, Hyperhidrosis	ORPHA:47045
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap...	OMIM:611762
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Hiatus hernia, Overweight, Patent ductus arteriosus, Recurrent pneumonia, Persistence of hemoglob...	OMIM:619769
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Posterior blepharitis, Palmoplantar hyperkeratosis, Hype...	OMIM:300918
Incontinentia Pigmenti	Maculopapular exanthema, Eosinophilia, Short stature, Supernumerary nipple, Keratitis, Leukocytos...	OMIM:308300
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Hydrolethalus Syndrome 1	Omphalocele, Hypospadias, Abnormal cortical gyration, Polyhydramnios, Bifid uterus, Abnormal lung...	OMIM:236680
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Sparse hair, Loss o...	ORPHA:3455
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Megaloblastic anemia, Anisop...	ORPHA:35858
Mednik Syndrome	Ichthyosis, Hyperkeratosis, Abnormal intestine morphology, Intrahepatic cholestasis	ORPHA:171851
Sialidosis Type 1	Hyperkeratosis, Splenomegaly, Short stature	ORPHA:812
Acrofacial Dysostosis Syndrome Of Rodriguez	Deep-set nails, Short stature, Thin skin	OMIM:201170
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, ...	ORPHA:536467
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Failure to thrive	OMIM:613217
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Osteogenesis Imperfecta, Type Ii	Disproportionate short-limb short stature, Nonimmune hydrops fetalis, Thin skin	OMIM:166210
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Atelectasis, Lissencephaly, Bronchiectasis	OMIM:619466
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Babesiosis	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hyperhidrosis, Leukopenia, Thrombocytopenia	ORPHA:108
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Tempi Syndrome	Facial erythema, Increased circulating IgG level, Increased hematocrit, Ascites, Polycythemia	ORPHA:284227
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype...	ORPHA:64743
Pachydermoperiostosis	Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Elevated circulatin...	ORPHA:2796
Livedoid Vasculopathy	Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,...	ORPHA:542643
Panniculitis-Induced Localized Lipodystrophy	Inflammatory abnormality of the skin, Abnormal immunoglobulin level	ORPHA:90159
Congenital Rubella Syndrome	Hepatomegaly, Skin rash, Short stature, Splenomegaly, Jaundice, Patent ductus arteriosus, Anemia,...	ORPHA:290
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Pericarditis, Ski...	ORPHA:900
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chron...	OMIM:608647
Hereditary Acrokeratotic Poikiloderma	Short stature, Camptodactyly of finger, Abnormal preputium morphology, Xerostomia, Hypopigmented ...	ORPHA:2907
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia	OMIM:613313
Lipoid Proteinosis	Acne, Pustule, Thickened skin, Hyperkeratosis, High palate, Dysphagia, Microglossia, Tongue nodules	ORPHA:530
Scarf Syndrome	Bifid scrotum, Inguinal hernia, Cryptorchidism, Perineal hypospadias, Low posterior hairline, Hyp...	ORPHA:3134
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Decreased circu...	ORPHA:275
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Neonatal death, Aplasia cutis congenita, Flexion contracture, Polyhydramnios	OMIM:612138
Primary Biliary Cholangitis	Increased circulating IgM level, Gastrointestinal inflammation, Hepatitis, Increased circulating ...	ORPHA:186
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Short stature, Eczema, Celiac disease, Postnatal growth retardation, Thyroidit...	OMIM:212750
Fanconi Anemia, Complementation Group A	Male infertility, Pancytopenia, Small for gestational age, Anemic pallor, Short stature, Hypergon...	OMIM:227650
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Increased circulating IgE level, Recurrent pneum...	ORPHA:277
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula...	OMIM:615925
Congenital Factor Ii Deficiency	Microscopic hematuria	ORPHA:325
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut...	ORPHA:368
Ichthyosis, Congenital, Autosomal Recessive 3	Anhidrosis, Erythema, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullo...	OMIM:606545
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R...	OMIM:300554
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrh...	OMIM:601847
Vitamin B12-Responsive Methylmalonic Acidemia	Dehydration	ORPHA:28
Dowling-Degos Disease	Hyperkeratosis, Arthritis, Anal margin squamous cell carcinoma, Skin vesicle, Hyperkeratotic papu...	ORPHA:79145
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Dorsocervical fat pad, Proportionate short stature, Synophrys, Low anterior ha...	ORPHA:391408
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Postnatal growth retardation, Decreased circulating antibody level, Leukopen...	OMIM:615190
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Fatal liver failure in infancy, Adrenal calcification, Jaundice, P...	ORPHA:275761
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Subcutaneous nodule, Sparse or absent eyelashes, Coarse hair, ...	ORPHA:113
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Throm...	OMIM:619463
Cardiofaciocutaneous Syndrome 3	Hyperkeratosis, Failure to thrive, Short stature, Hyperhidrosis	OMIM:615279
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Macs Syndrome	Alopecia, Hypergonadotropic hypogonadism, Palpebral edema, Short stature, Sparse eyebrow, Cryptor...	OMIM:613075
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Agammaglobulinemia, Decreased circulating total IgM, Crohn's disease, Decreased c...	OMIM:619705
Pearson Syndrome	Hypoparathyroidism, Elevated hepatic transaminase, Diabetes mellitus, Pancreatic fibrosis, Decrea...	ORPHA:699
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Sparse...	OMIM:129490
Warty Dyskeratoma	Acrokeratosis, Neoplasm of the tongue, Epidermal thickening, Acantholysis	ORPHA:69745
Hereditary Amyloidosis With Primary Renal Involvement	Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Tubulointerstiti...	ORPHA:85450
Ethylene Glycol Poisoning	Renal insufficiency, Gastritis, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hem...	ORPHA:31826
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Anemic pallor, Short stature, Hypergonadotropic hypogona...	OMIM:600901
Stormorken Syndrome	Hematuria	OMIM:185070
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Short stature, Splenomegaly, Uveitis, Arthritis, Conjuncti...	ORPHA:575
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Short stature, Microcytic anemia, Cryptorchidism, High palate, Failure to thrive, HbH hemoglobin	ORPHA:98791
X-Linked Sideroblastic Anemia	Splenomegaly, Pallor, Anemia	ORPHA:75563
Marshall-Smith Syndrome	Thin skin, Generalized hirsutism	ORPHA:561
Costello Syndrome	Failure to thrive in infancy, Redundant skin, Short stature, Cryptorchidism, Lack of skin elastic...	ORPHA:3071
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ...	OMIM:615954
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Brittle hair, Short stature, Lipoatrophy, Abnormal hair morp...	ORPHA:2963
Acute Promyelocytic Leukemia	Pancytopenia, Petechiae, Metrorrhagia, Leukocytosis, Weight loss, Anemia, Leukopenia, Lymphadenop...	ORPHA:520
Cardiac-Valvular Ehlers-Danlos Syndrome	Inguinal hernia, Short stature, Atrophic scars, Thin skin, Thick eyebrow	ORPHA:230851
Intellectual Developmental Disorder, Autosomal Recessive 5	Short stature, Postnatal growth retardation, Synophrys, Achilles tendon contracture, Sparse hair,...	OMIM:611091
Kaufman Oculocerebrofacial Syndrome	Short stature, Sparse eyebrow, Hypoplastic labia majora, Thin skin, Sparse hair, Preauricular ski...	OMIM:244450
Fanconi Anemia, Complementation Group C	Pancytopenia, Small for gestational age, Anemic pallor, Short stature, Hypergonadotropic hypogona...	OMIM:227645
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Moderate Hemophilia A	Hematuria, Synovitis	ORPHA:169805
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Anemic pallor, Short stature, Hypergonadotropic hypogona...	OMIM:227646
Diarrhea 1, Secretory Chloride, Congenital	Polyhydramnios, Dehydration, Growth delay, Hyperactive renin-angiotensin system, Hyperaldosteroni...	OMIM:214700
Familial Renal Glucosuria	Moderate postnatal growth retardation, Abnormal circulating insulin concentration, Dehydration	ORPHA:69076
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Leopard Syndrome 3	Short stature, Epidermal hyperkeratosis, Growth delay, Hyperkeratosis, Dry skin	OMIM:613707
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig...	ORPHA:91351
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Sparse scalp hair, Recurrent respiratory infections, Short stature, Rhizomelia, Edema, Pancreatic...	OMIM:266920
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:369929
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret...	OMIM:616113
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Bilateral cryptorchidism, Sparse eyebrow, Fine hair, Hypohidr...	OMIM:613451
Ectodermal Dysplasia/Short Stature Syndrome	Short stature, Esophageal stricture, Hyperkeratosis, Palmoplantar keratoderma, Dysphagia	OMIM:616029
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly	OMIM:607685
Focal Facial Dermal Dysplasia Type Iii	Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair patt...	ORPHA:1807
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ...	ORPHA:100026
Immunodeficiency 11A	Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody...	OMIM:615206
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis, Failure to ...	OMIM:619868
Dermatosparaxis Ehlers-Danlos Syndrome	Inguinal hernia, Severe short stature, Abnormality of subcutaneous fat tissue, Femoral hernia, Sc...	ORPHA:1901
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Mild postnatal growth...	OMIM:224120
Autoerythrocyte Sensitization Syndrome	Hematuria, Superficial dermal perivascular inflammatory infiltrate, Impaired platelet adhesion	ORPHA:324636
Melas	Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy, Recurrent pancreatitis, Ne...	ORPHA:550
Noonan Syndrome 14	Curly hair, Short stature, Polyhydramnios, Sparse eyebrow, Cryptorchidism, Low posterior hairline...	OMIM:619745
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Menometrorrhagia, Malabsorption, Thickened skin, Weight loss, Hyperk...	ORPHA:79430
Reynolds Syndrome	Hepatomegaly, Skin rash, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Skin ulcer, Ar...	ORPHA:779
Hennekam-Beemer Syndrome	Short stature, Pneumonia, Thickened skin, Erythema, Skin vesicle, High palate, Mastocytosis, Fail...	ORPHA:2135
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Hepa...	ORPHA:809
Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Exercise-induced myoglobinuria	OMIM:300653
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Hepatomegaly, Peria...	OMIM:612541
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul...	ORPHA:33001
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Short stature, Splenomegaly, Decreased body weight, Thrombocytopenia	OMIM:231000
Erythema Elevatum Diutinum	Skin rash, Increased circulating antibody level	ORPHA:90000
Kindler Epidermolysis Bullosa	Recurrent skin infections, Esophageal stricture, Erythema, Cheilitis, Dysphagia, Hyperkeratosis, ...	ORPHA:2908
Macrocephaly/Autism Syndrome	Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le...	OMIM:605309
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Abnormal immunoglobulin level, Recurre...	ORPHA:276
Sepsis In Premature Infants	Hepatomegaly, Small for gestational age, Petechiae, Splenomegaly, Leukocytosis, Gastrointestinal ...	ORPHA:90051
Heyn-Sproul-Jackson Syndrome	Sparse hair, Intrauterine growth retardation, Severe short stature	OMIM:618724
Oculocerebrocutaneous Syndrome	Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Congenital d...	ORPHA:1647
Juvenile Polyposis Of Infancy	Refractory anemia, Gastrointestinal hemorrhage, Short stature, Cachexia, High, narrow palate, Rec...	ORPHA:79076
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Limb joint contracture, Sparse axillary hair, Sparse pubic hair, Scarring alo...	ORPHA:251393
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Polyhydramnios, Recurrent pneumonia, Flexion contracture, Dehydration, Growth delay, ...	OMIM:616271
Wilson Disease	Hepatomegaly, Abnormality of the menstrual cycle, Splenomegaly, Jaundice, Increased body weight, ...	ORPHA:905
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Cholangitis, Cholecystitis, Decreased circulating IgG level, Psoriasiform derm...	ORPHA:183675
Mitochondrial Complex I Deficiency, Nuclear Type 33	Hypospadias, Bronchiectasis, Simplified gyral pattern, Aspiration pneumonia, Sparse hair, Intraut...	OMIM:618253
Alpha-1-Antitrypsin Deficiency	Hepatocellular carcinoma, Splenomegaly, Bronchiectasis, Cirrhosis, Gastric varix	OMIM:613490
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, High palate, Follicular hyperkeratosis	OMIM:617066
Flynn-Aird Syndrome	Alopecia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Skin ulcer, Dermal atr...	ORPHA:2047
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria	ORPHA:2774
Schopf-Schulz-Passarge Syndrome	Hyperkeratosis, Palmoplantar keratoderma, Dry skin	OMIM:224750
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu...	OMIM:241080
Amme Complex	Hematuria	OMIM:300194
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, T lymphocytopenia, Infectious encephalitis, Short stature, Autoimmune thrombocyt...	ORPHA:391487
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, R...	ORPHA:331235
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Weight loss, Iron deficiency anemia, Inflammation...	OMIM:301074
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Hypohidrosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, ...	OMIM:615023
Mosaic Variegated Aneuploidy Syndrome 2	Epidermoid cyst, Decreased response to growth hormone stimulation test, Short stature, Rhizomelia...	OMIM:614114
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Splenomegaly, Jaund...	OMIM:211600
Even-Plus Syndrome	Severe short stature, Highly arched eyebrow, Synophrys, Sparse hair, Aplasia cutis congenita, Oli...	OMIM:616854
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt...	ORPHA:284426
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Magel2-Related Prader-Willi-Like Syndrome	Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Clitoral hypoplasia,...	ORPHA:398069
Donohue Syndrome	Postnatal growth retardation, Acanthosis nigricans, Cholestasis, Hyperkeratosis, Ovarian cyst, He...	OMIM:246200
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Reduced platelet ...	OMIM:314050
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Unilateral cryptorchidism, Cleft palate, Persistence of hemoglobin F, Increase...	OMIM:300946
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph...	ORPHA:54251
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Hepatomegaly, Generalized lymphadenopathy, Skin rash, ...	ORPHA:50918
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neonatal cholestatic ...	OMIM:214900
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Hematuria	OMIM:158310
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis	OMIM:277350
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Recurrent respiratory infecti...	OMIM:614941
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Follicular hyperkeratosis	ORPHA:300179
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:253240
Giant Cell Arteritis	Hematuria, Arthritis, Renal insufficiency, Pericarditis	ORPHA:397
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys	OMIM:613845
Sickle Cell Disease	Hematuria, Renal insufficiency	OMIM:603903
Tooth Agenesis, Selective, 4	Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Thin skin, Palmoplantar hyperhi...	OMIM:150400
Mevalonic Aciduria	Normocytic hypoplastic anemia, Failure to thrive, Failure to thrive in infancy, Skin rash, Short ...	OMIM:610377
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Acholic sto...	OMIM:607765
Syndromic Diarrhea	Hepatomegaly, Villous atrophy, Small for gestational age, Gastritis, Increased mean platelet volu...	ORPHA:84064
Gitelman Syndrome	Proteinuria, Urinary incontinence, Decreased urinary potassium, Gout, Tubulointerstitial nephriti...	ORPHA:358
Catastrophic Antiphospholipid Syndrome	Myocarditis, Skin ulcer, Arthritis, Coombs-positive hemolytic anemia, Gastrointestinal infarction...	ORPHA:464343
Renal Hypodysplasia/Aplasia 1	Bilateral renal agenesis, Proteinuria, Renal dysplasia	OMIM:191830
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ...	OMIM:601952
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Congenital Disorder Of Glycosylation, Type If	Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive	OMIM:609180
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Small scrotum, Aplasia/Hypoplasia of the skin, Nevus, Short stature, Inguina...	ORPHA:2990
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Palmoplantar hyperkeratosis, Hyperhidrosis, Orthokeratotic hyperkeratosis, Palmo...	OMIM:148700
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Thrombocytopenia, Mediastinal lymphadenopathy, Sea-blue histiocytosis...	ORPHA:158029
Congenital Disorder Of Glycosylation, Type Iiw	Recurrent otitis media, Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscop...	OMIM:619525
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria	ORPHA:98895
Hereditary Methemoglobinemia	Small for gestational age, Methemoglobinemia	ORPHA:621
Bazex-Dupre-Christol Syndrome	Nevus, Hypohidrosis, Coarse hair, Pili torti, Sparse hair, Trichoepithelioma, Milia, Trichorrhexi...	OMIM:301845
Harlequin Ichthyosis	Recurrent respiratory infections, Dehydration	ORPHA:457
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Increased body weight, Facial erythema, Skin vesicle, Palmoplantar erythema, Eczem...	ORPHA:64745
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Tiger tail banding, Sparse hair, Nail dystrophy	OMIM:619692
Lassa Fever	Increased circulating IgM level, Conjunctivitis, Oliguria	ORPHA:99824
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Short stature, Splenomegaly, Cryptorchidism, Macroglossi...	OMIM:618440
Aredyld	Generalized hypotrichosis	OMIM:207780
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Growth delay, Nail dystrophy, Thin skin, Elevated hepatic transaminase	OMIM:615895
Incontinentia Pigmenti	Skin rash, Eosinophilia, Short stature, Supernumerary nipple, Keratitis, Erythema, Uveitis, Skin ...	ORPHA:464
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Neuraminidase Deficiency	Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote...	OMIM:256550
Niemann-Pick Disease, Type A	Hepatomegaly, Short stature, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenop...	OMIM:257200
Tooth Agenesis, Selective, 8	Sparse eyebrow, Sparse hair	OMIM:617073
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Erythroderma	OMIM:136630
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Ovarian neoplasm	ORPHA:50944
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Cachexia, Malabsorption, Splen...	ORPHA:3452
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Short stature, Polyhydramnios, Lymphedema, Highly arched eyebrow, Cryptorchidism, Postnatal growt...	OMIM:613563
Vitamin B12-Unresponsive Methylmalonic Acidemia	Pancreatitis, Dehydration	ORPHA:27
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Malabsorption, Cryptorchidism, Leukocytosis, Erythema, Acute leukemia...	ORPHA:99812
Ichthyosis, Congenital, Autosomal Recessive 8	Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Skin rash, Lymphadenitis, Decreased circulating antibody level, Decreased circulating total IgM, ...	ORPHA:331206
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet volume, Lymphad...	OMIM:617718
Immunodeficiency 22	Pericarditis, Decreased circulating total IgM, Panniculitis, Decreased circulating IgE, Chronic o...	OMIM:615758
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat...	OMIM:604117
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Growth delay, Petechiae	OMIM:611490
Chylomicron Retention Disease	Acanthocytosis, Increased hepatocellular lipid droplets, Growth delay, Steatorrhea, Fat malabsorp...	ORPHA:71
Ichthyosis, Annular Epidermolytic, 1	Erythema, Hyperparakeratosis, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform eryth...	OMIM:607602
Alopecia Antibody Deficiency	Recurrent respiratory infections, Short stature, Abnormal eyelash morphology, Sparse hair, Sparse...	ORPHA:1006
Darier-White Disease	Enlargement of parotid gland, Acrokeratosis, Subungual hyperkeratotic fragments, Acantholysis	OMIM:124200
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin	OMIM:602723
Wild Type Attr Amyloidosis	Nephropathy, Renal insufficiency, Nephrotic syndrome, Proteinuria	ORPHA:330001
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Dermatofibrosarcoma Protuberans	Thickened skin, Erythema, Skin ulcer	ORPHA:31112
Scarf Syndrome	Bifid scrotum, Inguinal hernia, Cryptorchidism, Low anterior hairline, Perineal hypospadias, Low ...	OMIM:312830
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Increased circulating IgE level, Abnormality of the ureter	ORPHA:3409
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin	OMIM:618527
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Failure to thrive in infancy, Recurrent pneumonia, Bronchiectasis, Hypohidrosis, Hyperkeratosis, ...	OMIM:301220
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Leukocyte Adhesion Deficiency, Type I	Osteomyelitis, Leukocytosis, Chronic mucocutaneous candidiasis, Skin ulcer, Rectal abscess, Perio...	OMIM:116920
Giant Axonal Neuropathy	Woolly hair, Abnormal pituitary gland morphology, Pili canaliculi	ORPHA:643
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Congenital Short Bowel Syndrome	Sparse hair, Displacement of the urethral meatus, Short stature, Lipoatrophy	ORPHA:2301
Combined Low Ldl And Fibrinogen	Elevated circulating aspartate aminotransferase concentration	OMIM:620364
Neutrophilic Dermatosis, Acute Febrile	Erythema, Pyoderma gangrenosum, Anemia, Panniculitis, Cystic acne, Acne inversa	OMIM:608068
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Increased fecal harderoporphyrin, ...	OMIM:618892
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Failure to thrive, Protein-losing enteropathy	OMIM:615863
Macrophage Activation Syndrome	Increased inflammatory response, Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, ...	ORPHA:158061
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Recurrent bronchitis	OMIM:300455
Focal Facial Dermal Dysplasia 3, Setleis Type	Sparse hair, Distichiasis, Low anterior hairline, Absent lower eyelashes	OMIM:227260
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of...	ORPHA:254361
Severe Hemophilia A	Synovitis, Macroscopic hematuria	ORPHA:169802
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Short stature, Postnatal growth r...	OMIM:617827
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Growth delay, Dehydration	OMIM:602722
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Arthritis, Nephr...	ORPHA:324
Lethal Acantholytic Erosive Disorder	Intrauterine growth retardation, Cardiomegaly, Cleft palate, Acantholysis	ORPHA:158687
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eczema, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otitis media	OMIM:618523
Kid Syndrome	Angular cheilitis, Posterior blepharitis, Recurrent cutaneous fungal infections, Congenital ichth...	ORPHA:477
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Cutis laxa, Hypogonadism, Generalized ichthyosis, Scaling skin, Dry skin, Generalized hyperkeratosis	ORPHA:2269
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Splenomegaly, Weight loss, Lymphadenopathy, Hyperhidrosis, Bone marrow h...	ORPHA:391
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Neutrophilia, Small for gestational age, Severe periodontitis, Short stature, Abnor...	ORPHA:99843
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	ORPHA:231580
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Absent eyebrow, Psoriasiform dermatitis, Polyhydramnios, Hepatitis, Hypoplasia of th...	ORPHA:436252
Naxos Disease	Subungual hyperkeratosis, Acantholysis, Cardiomegaly, Diffuse palmoplantar hyperkeratosis, Hyperk...	OMIM:601214
Erythrocytosis, Familial, 2	Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin	OMIM:263400
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell activity, Splenomegaly, Jaundi...	OMIM:603553
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Recurrent urinary tract infections, Psoriasiform dermatitis, Decreased ...	ORPHA:221139
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Pate...	OMIM:606003
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Pachyonychia Congenita	Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar kerato...	ORPHA:2309
Peeling Skin Syndrome 4	Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis	OMIM:607936
Geroderma Osteodysplastica	Growth delay, Severe short stature, Thin skin, Hernia	ORPHA:2078
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Leukocytosis, Increased circulating IgE level, Hypereo...	ORPHA:2902
Arterial Tortuosity Syndrome	Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Pulmonary artery stenosis, Flexi...	OMIM:208050
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, ...	ORPHA:1979
Rothmund-Thomson Syndrome Type 1	Premature ovarian insufficiency, Short stature, Alopecia totalis, Abnormal dental enamel morpholo...	ORPHA:221008
Ehlers-Danlos Syndrome, Periodontal Type, 1	Inguinal hernia, Hiatus hernia, Atrophic scars, Thin skin, Umbilical hernia	OMIM:130080
Meier-Gorlin Syndrome 4	Short stature, Cryptorchidism, Birth length less than 3rd percentile, Intrauterine growth retarda...	OMIM:613804
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis	OMIM:615821
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Pemphigus Erythematosus	Malar rash, Acantholysis	ORPHA:79480
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Growth delay, Acute hepatic failure, Dehydration, Elevated hepatic transaminase	OMIM:615453
Alagille Syndrome 1	Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas...	OMIM:118450
Immunoglobulin Kappa Light Chain Deficiency	Abnormal immunoglobulin level	OMIM:614102
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Rectal prolapse, Skin ulcer, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of ...	ORPHA:424019
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Proteasome-Associated Autoinflammatory Syndrome 1	Episcleritis, Increased circulating interleukin 6 concentration, Increased circulating interleuki...	OMIM:256040
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Blau Syndrome	Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, I...	ORPHA:90340
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash...	OMIM:619381
Alg6-Cdg	Jaundice, Macroglossia, Abnormality of the liver, Protein-losing enteropathy, Failure to thrive	ORPHA:79320
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Psoriasiform ...	ORPHA:293978
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Anhidrosis, Alopecia, Abnormal fingernail morphology, Skin ulcer, Neoplasm of the lung, Palmoplan...	ORPHA:659
Meconium Aspiration Syndrome	Maternal diabetes, Atelectasis, Pneumothorax, Aspiration pneumonia, Intrauterine growth retardation	ORPHA:70588
Hermansky-Pudlak Syndrome 2	Chronic oral candidiasis, Absent platelet dense granules, Hepatomegaly, Decreased CD4:CD8 ratio, ...	OMIM:608233
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Short stature, Absent eyelashes, C...	OMIM:268400
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutaneous candidiasi...	OMIM:147060
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Keratitis, Facial erythema, Folliculitis, Palmoplantar keratoderma, Conjunctivitis, Follicular hy...	OMIM:308800
Lichen Planus Pemphigoides	Skin vesicle, Hyperkeratosis, Conjunctivitis, Blepharitis	ORPHA:254478
Acrodermatitis Enteropathica	Glossitis, Short stature, Malabsorption, Pustule, Erythema, Cheilitis, Skin ulcer, Weight loss, D...	ORPHA:37
Bainbridge-Ropers Syndrome	Death in infancy, Thick eyebrow, Polyhydramnios, Supernumerary nipple, Precocious puberty, Crypto...	OMIM:615485
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Short stature, Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Esoph...	ORPHA:264580
Chilblain Lupus 1	Chilblains, Skin ulcer	OMIM:610448
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R...	OMIM:616726
Pediatric-Onset Graves Disease	Episcleritis, Hepatomegaly, Keratitis, Splenomegaly, Jaundice, Thyrotoxicosis with diffuse goiter...	ORPHA:525731
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma	OMIM:133200
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Increased circulating IgE level, Eczema, Thyroiditis	OMIM:618985
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Short stature, Thick hair, Lipodystrophy, Postnatal growth retardation, Abnormal...	ORPHA:357074
Erythrokeratodermia Variabilis Et Progressiva 3	Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:617525
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Pseudo-Torch Syndrome 3	Lymphadenitis, Acute kidney injury, Proteinuria	OMIM:618886
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Infantile Systemic Hyalinosis	Abnormality of the gastrointestinal tract, Severe short stature, Malabsorption, Thickened skin, S...	ORPHA:2176
Cardiofaciocutaneous Syndrome 1	Short stature, Splenomegaly, Submucous cleft hard palate, Atopic dermatitis, Hyperhidrosis, Hyper...	OMIM:115150
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Pseudo-Torch Syndrome 1	Hepatomegaly, Pachygyria, Splenomegaly, Thrombocytopenia, Jaundice, Patent ductus arteriosus, Hig...	OMIM:251290
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Diabetes mellitus, Short stature, Cryptorchidism, Simplified gyral pattern, Disp...	OMIM:616541
Multiple Endocrine Neoplasia, Type I	Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra...	OMIM:131100
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Esophageal varix, Skin ulcer, He...	ORPHA:2072
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Short stature, Chilblains, Splenomegaly, Thrombocytopenia, Erythema, Multiple gastr...	OMIM:225750
Waldenström Macroglobulinemia	Normocytic anemia, Gastrointestinal hemorrhage, Purpura, Hepatomegaly, Abnormality of neutrophils...	ORPHA:33226
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Short stature, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Acanthosis nig...	OMIM:612526
Acrofacial Dysostosis, Palagonia Type	Aplasia/Hypoplasia of the skin, Sparse eyelashes, Short stature, Low anterior hairline, Dermal at...	ORPHA:1787
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Premature graying of hair, Thin skin	OMIM:112250
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:713
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Death in infancy, Inguinal hernia, Adrenal hypoplasia, Morga...	OMIM:613177
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Redundant neck skin, Postnatal growth retardation, Splenomegaly, Pancreatic lymphan...	ORPHA:1655
Ectodermal Dysplasia-Blindness Syndrome	Short stature, Skin ulcer, Hypohidrosis, Hyperkeratosis, Keratoconjunctivitis sicca	ORPHA:1806
Epidermolysis Bullosa, Lethal Acantholytic	Neonatal death, Acantholysis	OMIM:609638
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Sparse body hair, Short stature	ORPHA:3068
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hyperkeratosis, Hepatomegaly	ORPHA:79279
Trichothiodystrophy 7, Nonphotosensitive	Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis	OMIM:618546
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop...	ORPHA:54595
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Hemoglobinuria	ORPHA:90035
Ciliary Dyskinesia, Primary, 21	Atelectasis, Recurrent pneumonia, Bronchiectasis	OMIM:615294
Severe Generalized Junctional Epidermolysis Bullosa	Alopecia, Pneumonia, Edema, Skin erosion, Paronychia, Pneumothorax, Dehydration, Growth delay, An...	ORPHA:79404
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperkeratosis, P...	OMIM:619208
Epilepsy-Telangiectasia Syndrome	Decreased circulating IgA level, Decreased circulating antibody level	ORPHA:1951
Congenital Disorder Of Glycosylation, Type Ig	Hypospadias, Recurrent pneumonia, Decreased circulating total IgM, Micropenis, Decreased circulat...	OMIM:607143
Isovaleric Acidemia	Dehydration	OMIM:243500
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Cleft soft palate, Pure red cell aplasia, Shor...	ORPHA:124
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Acral ulceration, Skin ulcer	ORPHA:139578
Hamamy Syndrome	Hypoparathyroidism, Inguinal hernia, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Low poster...	OMIM:611174
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Chole...	OMIM:300972
Lujo Hemorrhagic Fever	Renal insufficiency, Maculopapular exanthema, Skin rash, Myocarditis, Fulminant hepatitis, Oligur...	ORPHA:319213
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Hypoplastic sweat glands, Cleft palate, Hypohidrosis, Orthokera...	OMIM:617337
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri...	ORPHA:99845
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Parakeratosis, Severe B lymphocytopenia, Superficial dermal perivascular inflammato...	ORPHA:83617
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Camptodactyly of finger, Growth delay, Death in childhood, Sparse hair, Intrauteri...	OMIM:610756
Anauxetic Dysplasia 2	Short stature, Flexion contracture, Nail dysplasia, Small nail, Sparse hair, Intrauterine growth ...	OMIM:617396
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Colitis, Pallor, Neutrophilia, Leukocytosis, Hepatosple...	ORPHA:3260
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Decreased circulating IgA ...	OMIM:242860
Acquired Von Willebrand Syndrome	Hematuria	ORPHA:99147
Ichthyosis, Congenital, Autosomal Recessive 1	Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ...	OMIM:242300
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni...	ORPHA:79477
Glycogen Storage Disease Due To Aldolase A Deficiency	Myoglobinuria, Acute kidney injury	ORPHA:57
Noonan Syndrome 2	Short stature, Cryptorchidism, Patent ductus arteriosus, Hyperkeratosis, High palate, Palmoplanta...	OMIM:605275
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Keloid...	ORPHA:2890
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In...	OMIM:110100
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp...	ORPHA:131
Ablepharon-Macrostomia Syndrome	Ventral hernia, Absent eyebrow, Omphalocele, Absent eyelashes, Hypoplastic labia majora, Hypoplas...	OMIM:200110
Shigellosis	Acute colitis, Failure to thrive in infancy, Abscess, Pneumonia, Intestinal perforation, Myocardi...	ORPHA:810
Congenital Factor X Deficiency	Hematuria	ORPHA:328
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Short stature, Lymphedema, Abnormal eyelash morphology, Cryptorc...	ORPHA:1340
Down Syndrome	Decreased fertility, Type II diabetes mellitus, Sparse hair, Umbilical hernia, Hypothyroidism	ORPHA:870
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria	ORPHA:352479
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Chronic oral candidiasis	OMIM:212050
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal tubul...	OMIM:227810
Pheochromocytoma--Islet Cell Tumor Syndrome	Proteinuria, Elevated urinary norepinephrine level	OMIM:171420
Hypotrichosis With Juvenile Macular Degeneration	Hyperkeratosis, Short stature	ORPHA:1573
Gand Syndrome	Sparse hair	OMIM:615074
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Failure to thrive, Perianal erythema, Impaired T cell function, Short stature, Sple...	OMIM:201100
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k...	ORPHA:79408
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Hereditary Hemorrhagic Telangiectasia	Hematuria, Nephrolithiasis, Cholecystitis	ORPHA:774
Acquired Purpura Fulminans	Pyoderma gangrenosum, Skin rash, Thrombocytopenia, Macular purpura	ORPHA:49566
Bile Acid Malabsorption, Primary, 1	Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive	OMIM:613291
Neuropathy, Hereditary Sensory, Type Iic	Short stature, Acral ulceration	OMIM:614213
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Brittle hair, Hypospadias, Short stature, Flexion contracture, Fine hair, Chordee, Type II diabet...	OMIM:618891
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Hyperkeratosis, Parakeratosis	OMIM:618339
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Redundant neck skin, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiec...	OMIM:235255
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Anemia, Interstitial pneumonitis, Petechiae, Purpura	OMIM:620296
Maternal Uniparental Disomy Of Chromosome 4	Short stature, Acanthocytosis, Abnormal erythrocyte morphology, Postnatal growth retardation, Dec...	ORPHA:96180
Bloom Syndrome	Decreased fertility in females, Postnatal growth retardation, Cryptorchidism, Recurrent upper res...	OMIM:210900
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Bronchiectasis, Reduced sperm motility	OMIM:615434
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Growth delay, Methemoglobinemia, Polycythemia	OMIM:250800
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Chronic Diarrhea Due To Glucoamylase Deficiency	Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal...	ORPHA:103907
Zika Virus Disease	Maculopapular exanthema, Skin rash, Increased circulating IgM level, Arthritis, Conjunctivitis, I...	ORPHA:448237
Donnai-Barrow Syndrome	Proteinuria	ORPHA:2143
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Short stature, Portal hypertension, Hyp...	OMIM:613385
Abcd Syndrome	Aganglionic megacolon, Large for gestational age, Total intestinal aganglionosis, Neonatal death,...	OMIM:600501
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria	ORPHA:119
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Pericarditis, Erythema, Skin ulcer, Weight loss	ORPHA:767
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Decreased circul...	OMIM:212065
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse scalp hair, Sparse eyelashes, Short stature, Hypoplastic pilosebaceous units, Sparse eyebr...	OMIM:601345
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Pneumocystosis	Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Inc...	ORPHA:723
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Short stature, Sparse facial hair, Sparse axillary hair, Generalized lipodystrophy, Intrauterine ...	OMIM:608154
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Tylosis With Esophageal Cancer	Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos...	OMIM:148500
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy	OMIM:619063
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia, Hypothyroidism, Short stature	OMIM:617763
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma	ORPHA:538
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Pericardial effus...	ORPHA:79126
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Sparse...	OMIM:602400
Abetalipoproteinemia	Fat malabsorption, Acanthocytosis	OMIM:200100
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Pancolitis, Abnormal intestine morphology, Protein-losing enteropathy, Eso...	OMIM:619079
Gaisböck Syndrome	Peptic ulcer, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obes...	ORPHA:90041
Peeling Skin Syndrome 6	Parakeratosis, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Congenital Disorder Of Glycosylation, Type Im	Inflammatory abnormality of the skin, Dry skin, Hyperkeratosis, Ichthyosis, Failure to thrive	OMIM:610768
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Abnormality of the kidney, Increased circulating IgG4 level, Cholangitis, In...	ORPHA:449432
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
Amelo-Onycho-Hypohidrotic Syndrome	Hyperkeratosis, Dry skin, Hypohidrosis	ORPHA:1028
Congenital Short Bowel Syndrome	Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con...	OMIM:615237
Cystic Fibrosis	Male infertility, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Deh...	OMIM:219700
Stiff Skin Syndrome	Aplasia/Hypoplasia of the skin, Lipoatrophy, Short stature, Subcutaneous nodule, Type II diabetes...	ORPHA:2833
Lymphatic Malformation 4	Hydrocele testis, Hyperkeratosis	OMIM:615907
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Hyperh...	OMIM:614594
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, ...	ORPHA:227990
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Re...	OMIM:601495
Fabry Disease	Urinary mulberry cells, Renal insufficiency, Proteinuria, Lipiduria	OMIM:301500
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me...	ORPHA:86839
Congenital Enterocyte Heparan Sulfate Deficiency	Edema, Dehydration	ORPHA:103910
Arterial Tortuosity Syndrome	Inguinal hernia, Femoral hernia, Hiatus hernia, Pulmonary artery stenosis, Thin skin	ORPHA:3342
46,Xy Sex Reversal 6	Hypospadias, Sparse axillary hair, Hirsutism, Sex reversal, Gonadal dysgenesis, Chordee, Dysgermi...	OMIM:613762
Ddost-Cdg	Nephrotic range proteinuria	ORPHA:300536
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Kimura Disease	Increased circulating IgE level	ORPHA:482
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst...	ORPHA:157
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Severe short stature, Moderate postnatal growth retardation, Hypohidrosis, Hyperkeratosis, Ichthy...	ORPHA:1005
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha...	OMIM:613102
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Atypical scarring of skin,...	ORPHA:1366
Farber Disease	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Short statu...	ORPHA:333
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Aganglionic megacolon, Abnormal hemoglobin, Short stature, Cryptorchidism, Macroglossia, Gastroes...	ORPHA:847
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture, Sparse eyeb...	ORPHA:2108
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Protein-losing enteropathy, Hepat...	ORPHA:79319
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Inguinal hernia, Short stature, Polyhydramnios, Cryptorchidism, Lo...	OMIM:607721
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointerstitial nep...	ORPHA:227982
Self-Improving Dystrophic Epidermolysis Bullosa	Skin erosion, Abnormality of the subungual region, Growth delay, Atrophic scars, Nail dystrophy, ...	ORPHA:79411
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Absent external genitalia, Per...	OMIM:273395
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Hypohidrosis, Sparse hair, Sparse body hair	OMIM:618535
Fanconi Anemia, Complementation Group S	Short stature, Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Sparse...	OMIM:617883
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypospadias, Decreased circulating IgA level	ORPHA:457485
Aredyld Syndrome	Short stature, Abnormal dental enamel morphology, Lipoatrophy, Type II diabetes mellitus, Type I ...	ORPHA:1133
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails	Nail dystrophy, Congenital localized absence of skin	OMIM:132000
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Nephrotic syndrome, Heavy proteinuria, Urinary g...	ORPHA:505248
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	OMIM:231530
Adams-Oliver Syndrome 4	Hypoplastic toenails, Aplasia cutis congenita, Umbilical hernia, Toenail dysplasia	OMIM:615297
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn...	ORPHA:288
Blepharocheilodontic Syndrome 1	Nail dysplasia, Small nail, Sparse hair, Aplasia cutis congenita over the scalp vertex, High ante...	OMIM:119580
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Pancreatitis, Dehydration	OMIM:251000
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Liver abscess, Lung abscess, Acute colitis, Leukocytosis, Gastrointestina...	ORPHA:67
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Recurrent respiratory infections, Short stature, Ing...	OMIM:601358
Chromomycosis	Keratitis, Hyperparakeratosis, Hyperkeratosis, Keratoconjunctivitis sicca, Hyperkeratotic papule,...	ORPHA:182
Adams-Oliver Syndrome	Alopecia, Aplasia/Hypoplasia of the skin, Portal hypertension, Aplastic/hypoplastic toenail, Abse...	ORPHA:974
Trichohepatoenteric Syndrome 2	Brittle hair, Chronic hepatitis, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa,...	OMIM:614602
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria	OMIM:300559
Ullrich Congenital Muscular Dystrophy 1	Hyperhidrosis, High palate, Follicular hyperkeratosis, Failure to thrive, Slender build	OMIM:254090
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Absence of lymph node germinal ce...	ORPHA:90186
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly	OMIM:618107
Say-Barber-Miller Syndrome	Short stature, Eczema, Erythema nodosum, Cryptorchidism, Transient hypogammaglobulinemia of infan...	ORPHA:3132
Crimean-Congo Hemorrhagic Fever	Acute pancreatitis, Proteinuria, Erythema nodosum, Myocarditis, Orchitis, Epididymitis, Hematuria...	ORPHA:99827
Epidermolysis Bullosa, Junctional 1B, Severe	Death in infancy, Congenital localized absence of skin, Atrophic scars, Nail dystrophy, Nail dysp...	OMIM:226700
Bronchopulmonary Dysplasia	Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration	ORPHA:70589
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Diabetes mellitus, Rhizomelia, Oligozoospermia, Growth delay, Clitoral hypoplasia, Small nail, Na...	OMIM:614813
Linear Verrucous Nevus Syndrome	Hyperkeratosis	ORPHA:2611
Riddle Syndrome	Pneumonia, Recurrent pneumonia, Enuresis nocturna, Decreased circulating total IgM, Arthritis, Ot...	ORPHA:420741
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia	OMIM:618398
Respiratory Distress Syndrome In Premature Infants	Atelectasis, Edema, Pulmonary edema	OMIM:267450
Eec Syndrome	Short stature, Decreased response to growth hormone stimulation test, Keratitis, Xerostomia, Clef...	ORPHA:1896
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Skin ulcer, Granulomatosis, Conjunctivi...	OMIM:608710
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Short stature, Diabetes insipidus, Hypertonic dehydration	OMIM:304800
Leprosy	Urticarial plaque, Hypopigmented macule, Absent eyebrow, Alopecia, Skin nodule, Testicular mass, ...	ORPHA:548
Desbuquois Syndrome	Severe short stature, Camptodactyly of finger, Abnormal eyelash morphology, Disproportionate shor...	ORPHA:1425
Gaucher Disease	Osteomyelitis, Proteinuria, Osteoarthritis, Hepatitis, Hematuria, Increased circulating antibody ...	ORPHA:355
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Protein-losing enteropathy, Hepatic fibrosis, Cirrhosis, Steatorrh...	OMIM:602579
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Malar rash	ORPHA:163525
Ichthyosis Prematurity Syndrome	Generalized ichthyosis, Allergic rhinitis, Follicular hyperkeratosis, Erythroderma	OMIM:608649
Buerger Disease	Skin ulcer, Hyperhidrosis	ORPHA:36258
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Short stature, Hydrops fetalis, Fine hair, Pulmonary hypoplasia, Nail dysplasia, Spa...	OMIM:614091
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Hyperkeratosis, Short stature	ORPHA:1883
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Esophageal varix, Portal hypertension, Hepatomegaly	OMIM:617068
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Fetal ascites, Myocarditis, Leukocytosis, Hepatitis, C...	ORPHA:292
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Nephrogenic diabetes insipidus, Short stature, Hypertonic dehydration	OMIM:125800
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria	OMIM:145600
Ciliary Dyskinesia, Primary, 1	Male infertility, Pneumonia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Recurrent bro...	OMIM:244400
American Trypanosomiasis	Hepatomegaly, Skin rash, Aganglionic megacolon, Splenomegaly, Myocarditis, Lymphadenopathy, Pallo...	ORPHA:3386
C1Q Deficiency 2	Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis	OMIM:620321
Trichodental Dysplasia	Brittle hair, Slow-growing hair, Odontodysplasia, Fine hair, Sparse hair	OMIM:601453
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Dehydration, Hyperhidrosis, Elevated circulating alkaline phosphat...	ORPHA:94093
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Portal hypertension, Spar...	ORPHA:59303
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Asbestos Intoxication	Edema, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fib...	ORPHA:2302
Vascular Ehlers-Danlos Syndrome	Macule, Alopecia, Inguinal hernia, Hypospadias, Short stature, Abnormality of hair texture, Abnor...	ORPHA:286
Visceral Myopathy 2	Necrotizing enterocolitis, Intestinal obstruction, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Odontoonychodermal Dysplasia	Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Hyperhidrosis, Hy...	OMIM:257980
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Cold Agglutinin Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor	ORPHA:56425
Chronic Graft Versus Host Disease	Pancytopenia, Fasciitis, Urinary bladder inflammation, Esophageal stricture, Erythema, Xerostomia...	ORPHA:99921
Hypotrichosis 6	Erythema, Follicular hyperkeratosis	OMIM:607903
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Moderate albuminuria	OMIM:614231
Infantile Myofibromatosis	Neoplasm of the pancreas, Intestinal obstruction, Tracheoesophageal fistula, Skin ulcer, Abnormal...	ORPHA:2591
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Increased circulating IgE level	ORPHA:1858
Cranioectodermal Dysplasia	Rhizomelia, Abnormal fingernail morphology, Abnormal dental enamel morphology, Sparse hair, Abnor...	ORPHA:1515
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:2065
Short-Rib Thoracic Dysplasia 12	Omphalocele, Inguinal hernia, Polyhydramnios, Edema, Atelectasis, Hypoplastic nipples, Pulmonary ...	OMIM:269860
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Short stature, Dysmenorrhea, Postnatal growth retardation, Splenomegaly, Irregular ...	ORPHA:79240
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Keratitis, Furrowed tongue, Hypohidrosis, Hyperkeratosis, Ke...	OMIM:148210
Palmoplantar Keratoderma And Congenital Alopecia 1	Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis	OMIM:104100
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Preauricular pit, Recurrent respiratory infections, Absent nipple, Aplasia of the thymus, Short s...	OMIM:620186
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Acute pancreatitis, Edema, Jaundice, Dehydration	ORPHA:20
Menkes Disease	Alopecia, Brittle hair, Short stature, Death in childhood, Sparse hair, Intrauterine growth retar...	OMIM:309400
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente...	ORPHA:731
Diamond-Blackfan Anemia 1	Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Reticulocytopenia, Cleft palate,...	OMIM:105650
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Petechiae, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impa...	OMIM:153670
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Fail...	OMIM:267700
Bartter Syndrome, Type 3	Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Dehy...	OMIM:607364
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:173200
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Hypothyroidism, Hepatic steatosis, Hemolytic ane...	OMIM:615846
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Renal Fanconi syndrome, Proteinuria, Glycosuria	ORPHA:263455
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast aplasia, Elevated circu...	ORPHA:3044
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Sneddon Syndrome	Decreased circulating total IgM	OMIM:182410
Linear Skin Defects With Multiple Congenital Anomalies 2	Short stature, Highly arched eyebrow, Congenital diaphragmatic hernia, Asymmetric, linear skin de...	OMIM:300887
Hallermann-Streiff Syndrome	Sparse scalp hair, Recurrent respiratory infections, Sparse eyelashes, Proportionate short statur...	OMIM:234100
Cholera	Miscarriage, Dehydration, Aspiration pneumonia	ORPHA:173
Opitz-Kaveggia Syndrome	Skin tags, Sacral dimple, Multiple joint contractures, Hypospadias, Short stature, Inguinal herni...	OMIM:305450
Progressive Hemifacial Atrophy	Aplasia/Hypoplasia of the skin	ORPHA:1214
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse hair, Short stature, Sparse eyebrow	OMIM:619989
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep...	OMIM:619377
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit...	ORPHA:91350
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Severe short stature, Premature ovarian insufficiency, Absence of ...	OMIM:610965
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Skin rash, Partial IgA deficiency, Pustule, Acute otitis media, Recurrent pneumonia, Lack of T ce...	ORPHA:35078
B4Galt1-Cdg	Hepatomegaly, Inflammatory abnormality of the skin, Redundant neck skin, Small for gestational ag...	ORPHA:79332
Addison Disease	Hypoparathyroidism, Decreased circulating cortisol level, Primary testicular failure, Premature o...	ORPHA:85138
Alg12-Cdg	Hypospadias, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib)...	ORPHA:79324
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Skin vesicle, Erythema migrans, Parakeratosis, Palmoplantar hyperkeratosis	ORPHA:158681
Waardenburg Syndrome Type 3	Atelectasis, White hair, Camptodactyly of finger, Thick eyebrow	ORPHA:896
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Dry hair, Anhidrosis, Short stature, Crypto...	OMIM:216400
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Short stature, Prolonged neonatal jaundice, Severe failure to thrive, Intrauterine growth retarda...	ORPHA:423479
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Decreased female libido, Adrenal hypoplasia, Sparse axillar...	ORPHA:95409
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Proteinuria	OMIM:619127
Isolated Biliary Atresia	Hepatomegaly, Hypopituitarism, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaun...	ORPHA:30391
Hypermobile Ehlers-Danlos Syndrome	Inguinal hernia, Abnormality of the menstrual cycle, Genital hernia, Subcutaneous nodule, Cystoce...	ORPHA:285
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T...	ORPHA:228308
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Anhidrosis, Pneumonia, Splenomegaly, Lymphadenopathy, Chronic oti...	ORPHA:169090
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hyperkeratosis, Rhizomelia, Short stature, Intrauterine growth retardation	ORPHA:163966
Nablus Mask-Like Facial Syndrome	Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorchidism, Sparse eyebrow, Low an...	OMIM:608156
Ectodermal Dysplasia/Skin Fragility Syndrome	Absent eyebrow, Anhidrosis, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dys...	OMIM:604536
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym...	OMIM:619991
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Ne...	ORPHA:73263
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Hepatic steatosis, Decreased proportion of CD4-positive T ce...	OMIM:619573
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc...	ORPHA:158048
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	External genital hypoplasia, Postnatal growth retardation, Cryptorchidism, Fine hair, Sparse hair...	ORPHA:251028
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Short stature, Polyhydramnios, Dehydration, Hyperactive renin-angiotensin sy...	OMIM:601678
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Myositis, Fasciitis, Pericarditis, Skin rash, Intestinal obstruction, Orchitis, Splenomegaly, Leu...	ORPHA:32960
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypospadias, Short stature, Cryptorchidism, Death in childhood, Sparse hair, Increased phosphorib...	OMIM:300661
Limited Cutaneous Systemic Sclerosis	Gastroesophageal reflux, Skin ulcer, Dysphagia	ORPHA:220402
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Elevated hepatic transaminase, Portal hypertension, Cryptorchidism, Absence of subcutaneous fat, ...	OMIM:620005
Diffuse Cutaneous Systemic Sclerosis	Dyspareunia, Malabsorption, Xerostomia, Skin ulcer, Arthritis, Gastroesophageal reflux, Dysphagia	ORPHA:220393
Rasmussen Subacute Encephalitis	Decreased circulating total IgA	ORPHA:1929
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalciuria, Renal cyst, Nephrocalcinosis, Decreased circulating total IgM, Abnormality of the...	ORPHA:369837
Caroli Disease	Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Hajdu-Cheney Syndrome	Hepatomegaly, Short stature, Intestinal malrotation, Splenomegaly, Patent ductus arteriosus, Thic...	ORPHA:955
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Vulvovaginal Gingival Syndrome	Parakeratosis, Erythema	ORPHA:83453
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Hyperconvex fingerna...	ORPHA:257
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Methylmalonyl-Coa Epimerase Deficiency	Dehydration	OMIM:251120
Proliferating Trichilemmal Cyst	Skin ulcer	ORPHA:492
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis...	OMIM:210250
Short Syndrome	Alopecia, Diabetes mellitus, Severe short stature, Abnormal dental enamel morphology, Inguinal he...	ORPHA:3163
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Recurrent otitis media, Proteinuria, Multiple bladder diverticula	ORPHA:2728
Ciliary Dyskinesia With Defective Radial Spokes	Absent respiratory ciliary axoneme radial spokes, Immotile sperm	OMIM:242670
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Acute colitis, Intestinal perforation, Leukocytosis, Schistocytosis, Peritonitis...	ORPHA:90038
Trichorhinophalangeal Syndrome, Type I	Recurrent respiratory infections, Slow-growing hair, Thin nail, Short stature, Concave nail, Leuk...	OMIM:190350
Chime Syndrome	Erythema, Cleft palate, Skin ulcer, Acute leukemia, Hyperkeratosis, Ichthyosis	ORPHA:3474
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
Pheochromocytoma	Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level	OMIM:171300
Rothmund-Thomson Syndrome	Aplasia/Hypoplasia of the skin, Sparse eyelashes, Alopecia totalis, Short stature, Abnormal denta...	ORPHA:2909
Tetrasomy 12P	Sparse hair, Short stature, Sparse eyebrow, Hypohidrosis	ORPHA:884
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Anhidrosis, Dry hair, Severe short stature, Abnormal hair mo...	OMIM:133540
Weaver Syndrome	Deep-set nails, Inguinal hernia, Thin nail, Cryptorchidism, Melanocytic nevus, Hydrocele testis, ...	OMIM:277590
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein...	ORPHA:2929
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia	Thick eyebrow, Low anterior hairline, Upper eyelid edema, Long eyelashes, Sparse hair, Hirsutism	OMIM:616819
Trichohepatoenteric Syndrome 1	Hepatomegaly, Villous atrophy, Small for gestational age, Short stature, Increased mean platelet ...	OMIM:222470
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Bronchiectasis, Microvillar PAS-positive secretory granules	OMIM:619445
Familial Mediterranean Fever	Pericarditis, Proteinuria, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Nephrocalcinosis, Ne...	ORPHA:342
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Erythema, Lymphadenopathy, Pan...	OMIM:619183
Kyphoscoliotic Ehlers-Danlos Syndrome	Inguinal hernia, Short stature, Synophrys, Atypical scarring of skin, Thin skin, Umbilical hernia	ORPHA:536545
Ohdo Syndrome	Proteinuria	OMIM:249620
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Failure to thrive, Hepatomegaly, Anisocytosis, Cardiomegaly, M...	OMIM:618278
Adult-Onset Nemaline Myopathy	Paraproteinemia	ORPHA:171442
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Short stature	OMIM:617101
Meier-Gorlin Syndrome 6	Recurrent respiratory infections, Severe short stature, Decreased response to growth hormone stim...	OMIM:616835
Fucosidosis	Hepatomegaly, Cardiomegaly, Hypothyroidism, Abnormality of the gallbladder, Hyperhidrosis, Failur...	ORPHA:349
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypospadias, Sparse eyelashes, Supernumerary nipple, Hyperconvex nail, Absent eyelashes, Anonychi...	OMIM:106260
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,...	ORPHA:411629
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair	OMIM:614940
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Inguinal hernia, Molluscoid pseudotumors, Recurrent pneumonia, Thin skin	OMIM:225400
Aspergillosis	Sinusitis, Osteomyelitis, Abnormality of the kidney, Pneumonia, Keratitis, Increased circulating ...	ORPHA:1163
Trichothiodystrophy 8, Nonphotosensitive	Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa	OMIM:619691
Doors Syndrome	Adrenal hyperplasia, Abnormal fingernail morphology, Polyhydramnios, Low anterior hairline, Conge...	ORPHA:79500
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Alg1-Cdg	Abnormality of the gastrointestinal tract, Protein-losing enteropathy	ORPHA:79327
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Sparse scalp hair, Alopecia, Reduced subcutaneous a...	OMIM:248370
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepati...	OMIM:613812
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Recurrent skin infections, Short stature, Abnormal tongue morphology, Recurrent pneu...	ORPHA:158668
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175900
Keutel Syndrome	Recurrent respiratory infections, Alopecia, Short stature, Pulmonary artery stenosis, Dermal atro...	ORPHA:85202
Leprechaunism	Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Thickened skin, Rectal prolapse, Me...	ORPHA:508
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Inguinal hernia, Elevated circulating aspartate aminotransferase concentration, Highly arched eye...	OMIM:280000
8P11.2 Deletion Syndrome	Hemolytic anemia, Short stature, Hypogonadotropic hypogonadism, Splenomegaly, Patent ductus arter...	ORPHA:251066
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Splenomegaly, Pyloric stenosis, Recurrent pneumonia, Ileus, Dysphagia, Acanthosis n...	OMIM:613327
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Weight loss	ORPHA:1302
Marshall-Smith Syndrome	Omphalocele, Brittle hair, Short stature, Highly arched eyebrow, Bilateral cryptorchidism, Crypto...	OMIM:602535
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Hypergranulosis, Esophageal neoplasm, Palmoplantar hyperkeratosis, Pal...	ORPHA:79501
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarc...	ORPHA:171
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Reactive Arthritis	Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss, Hyperkeratosis, Inflammation of th...	ORPHA:29207
Arthrogryposis And Ectodermal Dysplasia	Short stature, Cleft palate, Hypohidrosis, Hyperkeratosis, Dry skin	OMIM:601701
Aplasia Cutis Congenita	Skin ulcer	ORPHA:1114
Bloom Syndrome	Recurrent urinary tract infections, Skin rash, Pneumonia, Cheilitis, Uveitis, Decreased circulati...	ORPHA:125
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Steatorrhea, Failure to thrive	OMIM:235555
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Esophageal stenosis, Hypohidrosis, Hyperkeratosis, Adrenal insufficiency, Dysphagia, Achalasia	OMIM:615510
Diarrhea 9	Villous atrophy, Failure to thrive	OMIM:618168
Mycetoma	Recurrent bacterial skin infections, Osteomyelitis, Abdominal mass, Pelvic mass, Abnormality of t...	ORPHA:2583
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Lipoatrophy, Absent eyelashes, Pulmonary carcinoid tumor, Premature graying of ha...	ORPHA:363618
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria	OMIM:620138
Glucose/Galactose Malabsorption	Hypertonic dehydration	OMIM:606824
Subcorneal Pustular Dermatosis	Pustule, Increased circulating antibody level, Rheumatoid arthritis	ORPHA:48377
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Mild postnatal growth retardation, Thyroid lymphangiectasia, Crypto...	OMIM:235510
Ellis Van Creveld Syndrome	Abnormal hair quantity, Hypospadias, Abnormal fingernail morphology, Hypoplastic toenails, Epispa...	ORPHA:289
Milroy Disease	Hydrocele testis, Hyperkeratosis, Erysipelas	ORPHA:79452
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Small nail, Aplasia cutis congenita, Polymicrogyria, Oligohydram...	OMIM:614219
Generalized Pustular Psoriasis	Overweight, Pustule, Leukocytosis, Obesity, Uveitis, Cheilitis, Arthritis, Palmoplantar pustulosi...	ORPHA:247353
Singleton-Merten Syndrome 2	Hyperkeratosis, Psoriasiform lesion, Short stature	OMIM:616298
Lysinuric Protein Intolerance	Hepatomegaly, Short stature, Splenomegaly, Cutis laxa, Anemia, Leukopenia, Truncal obesity, Hemop...	OMIM:222700
Pulmonary Alveolar Microlithiasis	Hematuria, Calcium nephrolithiasis, Bronchiectasis	ORPHA:60025
Beta-Ketothiolase Deficiency	Edema, Dehydration	ORPHA:134
Agel Amyloidosis	Edema, Respiratory tract infection, Xerostomia, Blepharochalasis, Nail dystrophy, Sparse hair, Di...	ORPHA:85448
Eem Syndrome	Sparse scalp hair, Absent eyebrow, Sparse body hair	ORPHA:1897
Noonan Syndrome 10	Short stature, Cryptorchidism, Patent ductus arteriosus, Hyperkeratosis, High palate, Palmoplanta...	OMIM:616564
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Palmoplantar keratoderma, Chronic rhinitis, Follicular hyperkeratosis	OMIM:615225
Peeling Skin Syndrome 1	Increased circulating IgE level, Erythroderma	OMIM:270300
Scedosporiosis	Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Endocarditis, Septic art...	ORPHA:449280
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Microvesicular hepati...	OMIM:619418
Brooke-Spiegler Syndrome	Abnormality of the sublingual glands, Abnormality of the submandibular glands, Skin ulcer, Saliva...	ORPHA:79493
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Anemia, Gastroesophageal reflux, Dysphagia, Failure to thrive, Recurr...	OMIM:230900
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Alopecia, Short stature, Elevated gamma-glutamyltransferase level,...	OMIM:242150
Methylmalonic Aciduria, Cblb Type	Decreased methylmalonyl-CoA mutase activity, Dehydration	OMIM:251110
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio...	OMIM:602347
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arth...	OMIM:249100
Desmosterolosis	Aplasia/Hypoplasia of the skin, Severe short stature, Abnormal cortical gyration, Abnormality of ...	ORPHA:35107
Chylomicron Retention Disease	Growth delay, Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Steat...	OMIM:246700
Warburg-Cinotti Syndrome	Ankle flexion contracture, Pneumothorax, Elbow flexion contracture, Joint swelling, Thin skin, Fl...	OMIM:618175
Matthew-Wood Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology...	ORPHA:2470
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Abetalipoproteinemia	Reticulocytosis, Hepatomegaly, Acanthocytosis, Cardiomegaly, Hypothyroidism, Keratoconjunctivitis...	ORPHA:14
Familial Keratoacanthoma	Hyperkeratosis, Adenoma sebaceum, Skin ulcer	ORPHA:493
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ...	ORPHA:263665
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Congenital Bile Acid Synthesis Defect Type 3	Jaundice, Cholestasis, Hepatosplenomegaly, Bile duct proliferation, Cirrhosis, Fat malabsorption	ORPHA:79302
Rhizomelic Chondrodysplasia Punctata	Alopecia, Rhizomelia, Short stature, Growth delay, Sparse body hair	ORPHA:177
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia, Anhidrosis	OMIM:614979
Infant Acute Respiratory Distress Syndrome	Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema	ORPHA:70587
Kosaki Overgrowth Syndrome	Xanthelasma, Thin skin	OMIM:616592
Fanconi Anemia	Leukopenia, Abnormality of the liver, High palate, Short stature, Aplasia/Hypoplasia of the uvula...	ORPHA:84
Rothmund-Thomson Syndrome Type 2	Short stature, Alopecia totalis, Abnormal dental enamel morphology, Facial edema, Cryptorchidism,...	ORPHA:221016
Alternating Hemiplegia Of Childhood	Thin eyebrow, Dehydration, Hyperhidrosis	ORPHA:2131
Familial Nasal Acilia	Atelectasis, Recurrent upper respiratory tract infections, Abnormal respiratory motile cilium mor...	ORPHA:922
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Ogden Syndrome	Global glomerulosclerosis, Eczema, Polycystic kidney dysplasia, Recurrent otitis media, Enlarged ...	OMIM:300855
Mitochondrial Trifunctional Protein Deficiency 2	Myoglobinuria, Recurrent myoglobinuria	OMIM:620300
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Sparse hair, Flexion contracture, Simplified gyral pattern	OMIM:620001
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Jaundice, Hydrops fetalis, Dehydration, Growth delay, Intrauterine growth retardation	ORPHA:79282
Thrombocytopenia-Absent Radius Syndrome	Short stature, Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, Leukocytosis, Patent ductus...	OMIM:274000
Pachyonychia Congenita 1	Oral leukoplakia, Follicular hyperkeratosis, Palmoplantar hyperkeratosis	OMIM:167200
Staphylococcal Necrotizing Pneumonia	Neutrophilia, Pneumonia, Leukocytosis, Acute infectious pneumonia, Leukopenia	ORPHA:36238
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Flexion contracture, Microlissencephaly, Knee flexion contracture, Death in childhood, Sparse hai...	OMIM:210710
Hereditary Orotic Aciduria	Splenomegaly, Patent ductus arteriosus, Impaired T cell function, Anemia	ORPHA:30
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Myoglobinuria, Red-brown urine	ORPHA:228305
Caroli Syndrome	Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,...	ORPHA:480520
Kaposiform Lymphangiomatosis	Metrorrhagia, Lymphangioma, Splenomegaly, Pancreatic cysts, Abnormality of the lymphatic system, ...	ORPHA:464329
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Erythema, Weight loss, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Bronchogenic cyst	ORPHA:2357
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Protruding tongue, Postnatal growth retardation, Cryptorchidism, Reduced alpha/beta synthesis rat...	OMIM:301040
Methylmalonic Aciduria, Cbla Type	Decreased methylmalonyl-CoA mutase activity, Dehydration	OMIM:251100
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Normochromic anemia, Chol...	OMIM:611881
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Parakeratosis, Short stature, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Mi...	OMIM:308050
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Mild proteinuria	OMIM:619147
Acquired Generalized Lipodystrophy	Abnormality of complement system, Panniculitis, Proteinuria, Acute pancreatitis	ORPHA:79086
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice...	OMIM:615512
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Short stature	ORPHA:66518
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Inguinal hernia, Foot joint contra...	ORPHA:444072
Wolfram Syndrome 2	Impaired collagen-induced platelet aggregation, Neurogenic bladder, Decreased circulating antibod...	OMIM:604928
Lelis Syndrome	Yellow nails, Absent lower eyelashes, Hypohidrosis, Nail dystrophy, Sparse hair, Abnormal toenail...	ORPHA:140936
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Restrictive Dermopathy	Multiple joint contractures, Hypospadias, Short nail, Polyhydramnios, Camptodactyly of finger, Ap...	ORPHA:1662
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Colchicine Poisoning	Alopecia, Dehydration	ORPHA:31824
Kasabach-Merritt Syndrome	Reticulocytosis, Petechiae, Thrombocytopenia, Abnormal lymphatic vessel morphology, Hyperhidrosis...	ORPHA:2330
Nephrogenic Diabetes Insipidus	Hypernatremic dehydration, Short stature, Polyhydramnios, Nephrogenic diabetes insipidus, Growth ...	ORPHA:223
Braddock-Carey Syndrome 1	Curly hair, Growth delay, Camptodactyly, Sparse hair, Enamel hypoplasia	OMIM:619980
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased circulating IgE level, Recurrent pneumonia, Horseshoe kidney, Decreased circulating ant...	ORPHA:508533
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Thickened skin, Hypoplasia of the small int...	OMIM:200995
Mitchell-Riley Syndrome	Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol...	OMIM:615710
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Bartter Syndrome, Type 2, Antenatal	Short stature, Polyhydramnios, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteron...	OMIM:241200
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Hypospadias, Recurrent pneumonia, Sparse hair, Clitoral hypertrophy, Nevus flamm...	OMIM:616449
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis	OMIM:208500
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Orchitis, Jaundice, Dehydration, Pancreatitis	ORPHA:99826
Intellectual Developmental Disorder, Autosomal Dominant 65	Sparse hair, Synophrys, Thin eyebrow, Low posterior hairline	OMIM:619320
Coccidioidomycosis	Renal insufficiency, Pericarditis, Osteomyelitis, Abnormality of the kidney, Pneumonia, Skin rash...	ORPHA:228123
Smith-Kingsmore Syndrome	Decreased circulating IgA level	OMIM:616638
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Hypospadias, Sparse eyelashes, Short stature, Phimosis, Crypto...	OMIM:305000
Chilton-Okur-Chung Neurodevelopmental Syndrome	Sparse scalp hair, Hypospadias, Anterior pituitary hypoplasia, Polyhydramnios, Highly arched eyeb...	OMIM:619841
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Nail pits, Premature graying of hair, Interstitial pneumonitis, Dermal atr...	OMIM:127550
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Monosomy 22	Aplasia of the thymus, Synophrys, Hyperhidrosis, Joint swelling, Contractures of the large joints...	ORPHA:96123
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Gastrointestinal stroma tumor, Myocarditis, Erythem...	ORPHA:221
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria	OMIM:251900
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Pallor	ORPHA:90037
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Thin skin	OMIM:166200
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Mild proteinuria	OMIM:619685
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Chronic sinusitis, Bronchiectasis, Skin ulcer	OMIM:604571
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Subungual hyperkeratosis, Recurrent skin infections, Eczema, Perianal er...	OMIM:308205
Elliptocytosis 1	Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor	OMIM:611804
Hypercholanemia, Familial 1	Fat malabsorption, Failure to thrive, Steatorrhea	OMIM:607748
Martin-Probst Syndrome	Renal insufficiency, Micropenis, Chordee, Proteinuria	OMIM:300519
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Rhizomelia, Polyhydramnios, Edema, Sparse eyebrow, Postnatal growth retardation...	OMIM:302960
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma, Hyperhidrosis	ORPHA:28378
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t...	OMIM:208540
Hennekam Syndrome	Mild postnatal growth retardation, Malabsorption, Pachygyria, Splenomegaly, Pyloric stenosis, Pul...	ORPHA:2136
Papillon-Lefèvre Syndrome	Recurrent respiratory infections, Abnormal fingernail morphology, Cigarette-paper scars, Hypopigm...	ORPHA:678
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Proteinuria	OMIM:222448
Recurrent Respiratory Papillomatosis	Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn...	ORPHA:60032
Wrinkly Skin Syndrome	Recurrent sinopulmonary infections, Inguinal hernia, Short stature, Lipodystrophy, Postnatal grow...	ORPHA:2834
Trigonocephaly 1	High, narrow palate, Meckel diverticulum	OMIM:190440
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Absent eyebrow, Alopecia, Thin fingernail, Recurrent respiratory infections, Severe ...	ORPHA:2273
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Thickened skin, Increased ...	OMIM:263700
Vascular Hyalinosis	Hematochezia, Protein-losing enteropathy, Malabsorption	OMIM:277175
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Necrotizing enterocolitis, Dicarboxylic aciduria, Exercise-induced myoglobinuria	OMIM:201475
Craniolenticulosutural Dysplasia	Brittle hair, Short stature, Cryptorchidism, Coarse hair, Sparse hair	OMIM:607812
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Sparse hair, Periventricular heterotopia	OMIM:614105
Encephalitis Lethargica	Increased circulating antibody level, Urinary incontinence	ORPHA:83600
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Sparse hair, Short stature, Hyperconvex nail	OMIM:619721
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Roberts Syndrome	Progressive flexion contractures, Polyhydramnios, Postnatal growth retardation, Cryptorchidism, L...	ORPHA:3103
Plague	Glossitis, Chapped lip, Hepatomegaly, Skin rash, Erythema nodosum, Splenomegaly, Lymphadenitis, H...	ORPHA:707
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Anhidrosis, Osteomyelitis, Skin ulcer	OMIM:613640
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620040
Congenital Disorder Of Glycosylation, Type Iib	Decreased circulating IgA level, Decreased circulating antibody level	OMIM:606056
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Patent ductus arteri...	ORPHA:210122
Barber-Say Syndrome	Aplasia/Hypoplasia of the skin, Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, ...	ORPHA:1231
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor	ORPHA:90033
Bile Acid Synthesis Defect, Congenital, 4	Giant cell hepatitis, Hepatomegaly, Intrahepatic cholestasis, Hematochezia, Prolonged neonatal ja...	OMIM:214950
Bartter Syndrome Type 4	Polyhydramnios, Dehydration, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased ...	ORPHA:89938
Mogs-Cdg	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:79330
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Dysphagia	ORPHA:163961
Histiocytosis-Lymphadenopathy Plus Syndrome	Episcleritis, Hepatomegaly, Short stature, Decreased response to growth hormone stimulation test,...	OMIM:602782
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Sparse hair, Hirsutism	OMIM:618087
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia	ORPHA:3348
Scalp-Ear-Nipple Syndrome	Palpebral edema, Short stature, Sparse axillary hair, Sparse pubic hair, Fine hair, Hypohidrosis,...	OMIM:181270
Shukla-Vernon Syndrome	Sparse hair	OMIM:301029
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sparse hair, Curly hair, Synophrys, Sparse eyebrow	OMIM:620075
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Severe short stature, Thickened skin, Skin ulcer, Panniculitis, Scaling skin, Leukemia, Dry skin,...	ORPHA:2526
Wagro Syndrome	Nephroblastoma, Proteinuria	OMIM:612469
Gapo Syndrome	Alopecia, Epidermoid cyst, Sparse eyelashes, Sparse eyebrow, Growth delay, Hypoplastic nipples, N...	OMIM:230740
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Growth delay, Decreased circulating total IgM, D...	OMIM:612301
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Osteomyelitis, Hypospadias, Hematuria, Otitis media, Micropenis	OMIM:619475
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Furrowed tongue, Hyperhidrosis, Palmoplantar keratoderma, Fo...	OMIM:615726
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia, Elevated circulating luteinizing hormone level	OMIM:250790
Wilson Disease	Hyperphosphaturia, Proteinuria, Osteoarthritis, Atypical or prolonged hepatitis, Nephrolithiasis,...	OMIM:277900
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Erythema nodosum, Splenomegaly, Jaundice, Biliary cirr...	OMIM:613471
Hellp Syndrome	Hemoglobinuria, Acute kidney injury, Proteinuria	ORPHA:244242
Cog8-Cdg	Failure to thrive, Protein-losing enteropathy	ORPHA:95428
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Inguinal hernia, Aplasia/Hypoplasia of the skin, Hypospadias, External...	ORPHA:2658
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Inguinal hernia, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, ...	OMIM:130050
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Herpes Simplex Virus Encephalitis	Leukocytosis, Neutrophilia	ORPHA:1930
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Pneumonia, Pustule, Skin ulcer, Granuloma, Infectious encephalitis, Increased red bloo...	ORPHA:68
Dermatoosteolysis, Kirghizian Type	Aplasia/Hypoplasia of the skin, Skin ulcer, Dystrophic fingernails, Abnormality of the nail, Dyst...	ORPHA:1657
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Erythema, Skin ulcer, Weight loss...	ORPHA:93672
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Anhidrosis, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Sparse hair	OMIM:224900
Onychotrichodysplasia And Neutropenia	Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia	OMIM:258360
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Hypospadias, Short stature, Polyhydramnios,...	ORPHA:567
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Gout, Nephrocalcinosis, Enterocolit...	ORPHA:79259
Trichorhinophalangeal Syndrome Type 1	Sparse eyelashes, Short stature, Camptodactyly of finger, Sparse eyebrow, Leukonychia, Sparse hai...	ORPHA:77258
Orofaciodigital Syndrome I	Dry hair, Alopecia, Short stature, Abnormal cortical gyration, Pancreatic cysts, Ovarian cyst, Gr...	OMIM:311200
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level	ORPHA:206594
Igg4-Related Pachymeningitis	Sinusitis, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Nephritis, Pan...	ORPHA:449427
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Absent outer dynein arms, Pulmonary artery stenosis, Atelectasi...	OMIM:615067
Branchiooculofacial Syndrome	Preauricular pit, Hypospadias, Supernumerary nipple, Postnatal growth retardation, Cryptorchidism...	OMIM:113620
Pyruvate Carboxylase Deficiency	Growth delay, Dehydration	ORPHA:3008
Chand Syndrome	Curly hair, Atelectasis, Hypohidrosis, Nail dysplasia, Skin erosion, Commissural lip pit, Imperfo...	ORPHA:1401
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Dend Syndrome	Dehydration	ORPHA:79134
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, Increased s...	ORPHA:79277
Johanson-Blizzard Syndrome	Elevated gamma-glutamyltransferase level, Death in childhood, Micropenis, Aplasia cutis congenita...	OMIM:243800
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration	OMIM:221400
Dextrocardia	Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal ...	ORPHA:1666
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Episodic hyperhidrosis, Osteomyelitis, Acral ulceration	OMIM:613115
Trichorhinophalangeal Syndrome, Type Ii	Sparse scalp hair, Recurrent respiratory infections, Inguinal hernia, Mild postnatal growth retar...	OMIM:150230
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Exercise-induced myoglobinuria	OMIM:607155
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Abnormal renal morphology, Vesicoureteral re...	OMIM:122470
Ectodermal Dysplasia And Immunodeficiency 2	Recurrent respiratory infections, Anhidrosis, Sparse scalp hair, Hypohidrosis, Aplasia of the swe...	OMIM:612132
Microvillus Inclusion Disease	Dehydration	ORPHA:2290
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair	OMIM:617988
Trichorhinophalangeal Syndrome, Type Iii	Sparse hair, Short stature, Sparse lateral eyebrow	OMIM:190351
Cutis Marmorata Telangiectatica Congenita	Aplasia/Hypoplasia of the skin, Blue nevus, Skin erosion, Multiple cafe-au-lait spots, Displaceme...	ORPHA:1556
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Abnormality of T cell physiology, Pancytopenia, Generalized lymphadenopathy, Spleno...	OMIM:181000
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis...	OMIM:242700
Xeroderma Pigmentosum, Complementation Group B	Hypogonadism, Dermal atrophy, Short stature	OMIM:610651
Chromosome 5P13 Duplication Syndrome	Sparse hair, Low posterior hairline	OMIM:613174
Mucolipidosis Ii Alpha/Beta	Inguinal hernia, Brittle hair, Palpebral edema, Increased iduronate sulfatase level, Sparse eyebr...	OMIM:252500
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Hyperhidrosis, T...	ORPHA:71493
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level	ORPHA:99965
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Hydrocele testis, Protein-losing enteropathy	OMIM:618154
Sarcoidosis	Abnormal lung morphology, Subcutaneous nodule, Emphysema, Hypothyroidism, Alopecia, Hyperthyroidi...	ORPHA:797
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Myotonic Dystrophy 2	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:602668
Digeorge Syndrome	Inguinal hernia, Parathyroid agenesis, Short stature, Decreased circulating parathyroid hormone l...	OMIM:188400
Huriez Syndrome	Aplasia/Hypoplasia of the skin, Abnormality of the nail, Small nail	ORPHA:384
Monosomy 18Q	Micropenis, Decreased circulating IgA level	ORPHA:1600
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Anuria, Pneumonia, Myocarditis, Pancreatitis, ...	ORPHA:544482
Kawasaki Disease	Pericarditis, Proteinuria, Skin rash, Myocarditis, Hepatitis, Sterile pyuria, Cheilitis, Arthriti...	ORPHA:2331
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Postnatal growth retardation, Synophrys, Sparse hair, Aplasia cutis congenita, Toe...	OMIM:300966
Hyperchlorhidrosis, Isolated	Hypernatremic dehydration	OMIM:143860
Barber-Say Syndrome	Absent nipple, Sparse eyelashes, Lipodystrophy, Sparse eyebrow, Cryptorchidism, Hypoplastic labia...	OMIM:209885
Bethlem Myopathy	Hyperkeratosis	ORPHA:610
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Intestinal malrotation, Asplenia, Esophageal atresia, Patent ductus arteriosus, Pulmonary lymphan...	OMIM:265380
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Reduced progressive sperm motility	OMIM:619608
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra...	ORPHA:64744
Cockayne Syndrome Type 1	Conjunctivitis, Renal insufficiency, Proteinuria, Uveitis	ORPHA:90321
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria	OMIM:255125
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Congenital Disorder Of Glycosylation, Type Iia	Short stature, Postnatal growth retardation, Hirsutism, Long eyelashes, Sparse hair, Thick eyebrow	OMIM:212066
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Abnormal dental enamel morphology, Spar...	ORPHA:1071
Scleromyxedema	Paraproteinemia, Abnormality of the kidney	ORPHA:167635
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Sacral dimple, Aplasia/Hypoplasia of the skin, Hypospadias, Severe sho...	ORPHA:2556
Dubowitz Syndrome	Hypospadias, Eczema, Otitis media, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:223370
Myelofibrosis	Splenomegaly, Pallor, Myeloproliferative disorder, Purpura	OMIM:254450
Cartilage-Hair Hypoplasia	Sparse eyelashes, Sparse facial hair, Absent pubertal growth spurt, Sparse eyebrow, Fine hair, Ne...	OMIM:250250
Tarp Syndrome	Failure to thrive, Cleft palate, Tongue nodules, Glossoptosis, High palate, Neonatal death, Intra...	OMIM:311900
Cat Eye Syndrome	Anal stenosis, Short stature, Intestinal malrotation, Rectal fistula, Patent ductus arteriosus, R...	OMIM:115470
Immunodeficiency 67	Increased circulating IgE level	OMIM:607676
Rodrigues Blindness	Sparse hair, Short stature, Fine hair	OMIM:268320
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Congenital diaphragmatic hernia, Clitoral hypoplasia, Absent fingernai...	OMIM:305600
Mitochondrial Trifunctional Protein Deficiency 1	Myoglobinuria	OMIM:609015
Proprotein Convertase 1/3 Deficiency	Villous atrophy, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Malabsorpti...	OMIM:600955
Ataxia-Telangiectasia	Decreased circulating IgG level, Sinusitis, Bronchiectasis, Decreased circulating IgG2 level, Def...	OMIM:208900
Diarrhea 10, Protein-Losing Enteropathy Type	Cryptorchidism, Decreased circulating antibody level, Hematochezia, Protein-losing enteropathy, A...	OMIM:618183
Igg4-Related Ophthalmic Disease	Palpebral edema, Orchitis, Periorbital edema, Abnormal lung morphology, Abnormality of the anteri...	ORPHA:449563
Loeys-Dietz Syndrome	Camptodactyly of finger, Atypical scarring of skin, Thin skin, Uterine rupture, Striae distensae	ORPHA:60030
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Hiatus hernia, Precocious puberty, Cryptorchidism, Nail dysplasia, Sparse hair, Preauricular skin...	OMIM:616682
Dyskeratosis Congenita, Autosomal Recessive 6	Sparse hair, Intrauterine growth retardation, Alopecia, Nail dystrophy	OMIM:616353
Koolen-De Vries Syndrome Due To A Point Mutation	Small for gestational age, Eczema, Decreased response to growth hormone stimulation test, Testicu...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Small for gestational age, Eczema, Decreased response to growth hormone stimulation test, Testicu...	ORPHA:363958
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol...	OMIM:610199
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Villous atrophy, Small for gestational age, Portal hypertension, Biliary hyperplasi...	ORPHA:567983
6Q Terminal Deletion Syndrome	Periventricular heterotopia, High, narrow palate, Obesity, Abnormality of neuronal migration, Hyp...	ORPHA:75857
Alveolar Echinococcosis	Cholangitis, Renal cyst, Increased circulating antibody level, Abnormal bladder morphology, Cutan...	ORPHA:284
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Sparse eyelashes, Short stature, Sparse eyebrow, Small nail, Sparse hair, High anterior hairline,...	OMIM:250410
Ramon Syndrome	Short stature, Narrow palate, Hyperkeratosis, Decreased body weight, Juvenile rheumatoid arthritis	OMIM:266270
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Alopecia, Brittle hair, Abnormal dental enamel morphology, Lip pit...	ORPHA:2750
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Hemoglobinuria, Renal ...	ORPHA:447
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmoplantar hyperhidrosis, Decreased te...	OMIM:610644
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Short stature, Premature graying of hair, Dermal atrophy, Nail dystrophy, Gene...	ORPHA:3322
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t...	ORPHA:562639
Cogan Syndrome	Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam...	ORPHA:1467
Bardet-Biedl Syndrome 20	Micropenis, Proteinuria, Pancreatitis	OMIM:619471
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria	ORPHA:206549
Myhre Syndrome	Short stature, Pericardial effusion, Cryptorchidism, Fine hair, Birth length less than 3rd percen...	OMIM:139210
Cowden Syndrome	Short stature, Enlarged polycystic ovaries, Furrowed tongue, Hamartomatous polyposis, Macroglossi...	ORPHA:201
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Hyperkeratosis, Multinodular goiter, Adenocarcinoma of the colon	OMIM:620189
Marshall Syndrome	Short stature, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Sparse hair	ORPHA:560
Oculocutaneous Albinism Type 1A	Hyperkeratosis, Thickened skin	ORPHA:79431
Fryns Syndrome	Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Large for gestational a...	OMIM:229850
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Inguinal hernia, Sparse eyelashes, Short stature, Polyhydramnios, ...	OMIM:613610
Secondary Intestinal Lymphangiectasia	Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot...	ORPHA:90363
Pancreatic Lipase Deficiency	Fat malabsorption, Steatorrhea	OMIM:614338
Cranioectodermal Dysplasia 3	Short stature, Short nail, Rhizomelia, Broad nail, Fine hair, Sparse hair, Peripheral pulmonary a...	OMIM:614099
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skin erosion, Delayed puberty, Flexion contracture, Atypical scarring of skin, Growth delay, Nail...	ORPHA:89842
Malignant Hyperthermia Of Anesthesia	Myoglobinuria, Acute kidney injury	ORPHA:423
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis	OMIM:615947
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	ORPHA:71212
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Sparse hair, Atrophic scars, Joint contracture, Short stature	OMIM:615349
Oculoectodermal Syndrome	Epidermal nevus, Supernumerary nipple, Aplasia cutis congenita, Lymphedema, Pineal cyst, Growth d...	OMIM:600268
Renpenning Syndrome 1	Brittle hair, Hypospadias, Short stature, Phimosis, Death in childhood, Sparse hair, Joint contra...	OMIM:309500
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Osteomyelitis, Skin ulcer	ORPHA:2218
Curry-Jones Syndrome	Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Generalized hirsutism	ORPHA:1553
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Sacral dimple, Short stature, Polyhydramnios, Pseudohypoparathyroidism, Sparse hair, Preauricular...	OMIM:617157
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hy...	OMIM:604292
White-Sutton Syndrome	Sparse hair, Intrauterine growth retardation, Short stature, Congenital diaphragmatic hernia	OMIM:616364
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Increased connective tissue, Atelectasis, Flexion contracture, Lissencephaly, Recurrent lower res...	ORPHA:258
Musculocontractural Ehlers-Danlos Syndrome	Recurrent skin infections, Redundant skin, Cryptorchidism, Abnormal mesentery morphology, Malrota...	ORPHA:2953
Hepatoerythropoietic Porphyria	Hemolytic anemia, Recurrent bacterial skin infections, Splenomegaly, Thickened skin, Keratoconjun...	ORPHA:95159
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Osteomyelitis, Acral ulceration	OMIM:162400
Yellow Fever	Renal insufficiency, Anuria, Increased circulating interleukin 6 concentration, Acute pancreatiti...	ORPHA:99829
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Myoglobinuria, Ketonuria	OMIM:616878
Duplication Of The Pituitary Gland	Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Short stature, Polyhydramnios	ORPHA:314621
Ifap Syndrome 2	Sparse hair, Nail dystrophy, Atrichia	OMIM:619016
Pallister-Killian Syndrome	Small scrotum, Edema of the dorsum of feet, Polyhydramnios, Congenital diaphragmatic hernia, Flex...	OMIM:601803
De Sanctis-Cacchione Syndrome	Parakeratosis, Severe short stature, Keratitis, Bilateral cryptorchidism, Conjunctivitis	OMIM:278800
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectasis, Recurrent lower respirat...	OMIM:620233
Ebola Hemorrhagic Fever	Acute pancreatitis, Increased circulating antibody level, Hepatitis, Maculopapular exanthema	ORPHA:319218
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Inguinal hernia, Small scrotum, Short stature, Portal hypertension...	OMIM:613658
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Sparse eyelashes, Short stature, Fine hair	OMIM:257850
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Abnormal dental enam...	ORPHA:2710
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Alopecia, Severe short stature, Cryptorchidism, Loss of eyelashes, Abnormal circulating calcium-p...	ORPHA:2636
Osteogenesis Imperfecta, Type Xx	Highly arched eyebrow, Disproportionate short-limb short stature, Sparse hair, Intrauterine growt...	OMIM:618644
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nail dystrophy,...	ORPHA:1010
Down Syndrome	Redundant neck skin, Aganglionic megacolon, Short stature, Protruding tongue, Patent ductus arter...	OMIM:190685
Familial Multiple Nevi Flammei	Skin ulcer	ORPHA:624
Viss Syndrome	Chronic gastritis, High, narrow palate, Increased circulating IgG level, High palate, Gastroesoph...	OMIM:619472
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatomegaly, Short stature, Microvesicular hepatic steatosis, Micronodular cirrhosis, Osteomyeli...	OMIM:256810
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Okur-Chung Neurodevelopmental Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ...	OMIM:617062
Scalp-Ear-Nipple Syndrome	Abnormal fingernail morphology, Palpebral edema, Hypohidrosis, Breast aplasia, Sparse hair, Type ...	ORPHA:2036
Intellectual Developmental Disorder, Autosomal Dominant 66	Sparse hair	OMIM:619910
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Skin ulcer, Lymphadenopathy, Neoplasm ...	ORPHA:424016
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Episodic hyperhidrosis, Anhidrosis, Gastroesophageal reflux, Acral ulceration	OMIM:201300
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis	OMIM:611376
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Decreased circulating total IgM, Eczema	OMIM:618162
Roberts-Sc Phocomelia Syndrome	Hypospadias, Enlarged labia minora, Polyhydramnios, Ankle flexion contracture, Postnatal growth r...	OMIM:268300
Pericardial And Diaphragmatic Defect	Patent ductus arteriosus, Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal ...	ORPHA:2847
Serkal Syndrome	Growth delay, Malrotation of small bowel	ORPHA:139466
Japanese Encephalitis	Increased circulating IgM level, Increased circulating antibody level, Infectious encephalitis	ORPHA:79139
Menkes Disease	Hypopigmentation of hair, Inguinal hernia, Atypical scarring of skin, Umbilical hernia, Hernia, P...	ORPHA:565
Calciphylaxis	Secondary hyperparathyroidism, Skin ulcer	ORPHA:280062
Costello Syndrome	Deep-set nails, Curly hair, Short stature, Nevus, Polyhydramnios, Thin nail, Concave nail, Achill...	OMIM:218040
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Patent ductus arteriosus, Cleft soft palate, Follicular hyperkeratosis, Cutis laxa	OMIM:614557
Inflammatory Pseudotumor Of The Liver	Increased hepatitis B virus antibody level	ORPHA:90003
Cranioectodermal Dysplasia 1	Recurrent respiratory infections, Inguinal hernia, Slow-growing hair, Short nail, Thin nail, Rhiz...	OMIM:218330
Neuropathy, Hereditary Sensory And Autonomic, Type V	Anhidrosis, Osteomyelitis, Osteoarthritis, Acral ulceration, Septic arthritis	OMIM:608654
Meier-Gorlin Syndrome 7	Anal stenosis, Short stature, Cryptorchidism, Cleft palate, Duodenal stenosis, Anteriorly placed ...	OMIM:617063
Nocardiosis	Pneumonia, Subcutaneous nodule, Emphysema, Thyroiditis, Pneumothorax, Abnormality of the adrenal ...	ORPHA:31204
Goldberg-Shprintzen Syndrome	Highly arched eyebrow, Synophrys, Sparse hair, Pachygyria, Polymicrogyria, Thick eyebrow	OMIM:609460
Teebi-Shaltout Syndrome	Short stature, Slow-growing hair, Highly arched eyebrow, Low anterior hairline, Camptodactyly, Sp...	OMIM:272950
Intellectual Developmental Disorder, Autosomal Dominant 54	Anhidrosis, Short stature, Thin nail, Growth delay, Sparse hair	OMIM:617799
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ...	OMIM:309000
Tick-Borne Encephalitis	Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l...	ORPHA:297
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Aplasia cutis congenita on trunk or limbs, Scarring, Growth delay, Atrophic scars, Nail...	ORPHA:79396
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Aplasia/Hypoplasia of the skin, Hypospadias, Polyhydramnios, Epispadia...	ORPHA:3339
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair, Short stature	ORPHA:50814
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Menke-Hennekam Syndrome 1	Inguinal hernia, Cryptorchidism, Recurrent upper respiratory tract infections, Flexion contractur...	OMIM:618332
Dysosteosclerosis	Aplasia/Hypoplasia of the skin, Short stature, Abnormal dental enamel morphology	ORPHA:1782
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Moderate postnatal growth retardation, Knee flexion contracture, Coarse hair, Sp...	OMIM:118650
Primrose Syndrome	Sparse scalp hair, Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Absent fac...	OMIM:259050
Glycogen Storage Disease Due To Acid Maltase Deficiency	Abnormal circulating enzyme concentration or activity, Respiratory tract infection, Atelectasis, ...	ORPHA:365
Metachromatic Leukodystrophy	Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobi...	ORPHA:512
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Short stature, Congenital diaphragmatic hernia, Ovotestis, Asymmetric, linear skin d...	OMIM:309801
Wrinkly Skin Syndrome	Inguinal hernia, Short stature, Short nail, Cryptorchidism, Umbilical hernia, Sparse hair, Intrau...	OMIM:278250
Autosomal Recessive Cutis Laxa Type 1	Severe short stature, Redundant skin, Pyloric stenosis, Recurrent pneumonia, Lack of skin elastic...	ORPHA:90349
Revesz Syndrome	Nail pits, Fine hair, Nail dystrophy, Sparse hair, Intrauterine growth retardation, Ridged finger...	OMIM:268130
Wolf-Hirschhorn Syndrome	Accessory spleen, Small for gestational age, Short stature, Cryptorchidism, Malrotation of small ...	OMIM:194190
Adams-Oliver Syndrome 5	Inguinal hernia, Hypoplastic toenails, Umbilical hernia, Cutis marmorata telangiectatica congenit...	OMIM:616028
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Female hypogonadism, Hypermelanotic macule, Decreased serum leptin, Alopecia tota...	ORPHA:740
Alström Syndrome	Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter dyssynergia, Dysuria, ...	ORPHA:64
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis, Abnormality of the lymphatic system, Hyperparakeratosis, Hydrocele testis,...	ORPHA:276280
Kanzaki Disease	Hyperkeratosis, Dry skin, Petechiae	OMIM:609242
Proteus Syndrome	Thymus hyperplasia, Cachexia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged...	ORPHA:744
Aymé-Gripp Syndrome	Pericarditis, Proteinuria	ORPHA:1272
Autosomal Dominant Cutis Laxa	Redundant neck skin, Redundant skin, Postnatal growth retardation, Bronchiectasis, Pyelonephritis...	ORPHA:90348
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Short stature, Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Abnormali...	ORPHA:438213
Attenuated Chédiak-Higashi Syndrome	Skin ulcer	ORPHA:352723
Holoprosencephaly	Hypoplasia of penis, Abnormality of the urinary system, Proteinuria	ORPHA:2162
Colonic Atresia	Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic...	ORPHA:1198
Cartilage-Hair Hypoplasia	Sacral dimple, Rhizomelia, Sparse eyebrow, Disproportionate short-limb short stature, Sparse hair	ORPHA:175
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Synovitis, Uveitis, Skin ulcer,...	OMIM:186580
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Small for gestational age, Patent ductus arteriosus, A...	ORPHA:1708
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Recurrent skin infections, Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, H...	OMIM:601776
Oculodentodigital Dysplasia	Dry hair, Slow-growing hair, Fine hair, Joint contracture of the 5th finger, Sparse hair, Enamel ...	OMIM:164200
Fraser Syndrome 1	Abnormal small intestine morphology, Abnormal cortical gyration, Cryptorchidism, Cleft palate, Ab...	OMIM:219000
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Dysphagia, Megaduodenum, Micr...	OMIM:155310
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Hyperkeratosis, Cardiomegaly	ORPHA:79280
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Linear Skin Defects With Multiple Congenital Anomalies 3	Asymmetric, linear skin defects, Thyroid C cell hyperplasia	OMIM:300952
Congenital Tracheal Stenosis	Fetal ascites, Abnormal stomach morphology, Patent ductus arteriosus, Tracheoesophageal fistula, ...	ORPHA:141127
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Congenital Analbuminemia	Increased circulating antibody level	ORPHA:86816
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Anhidrosis, Osteomyelitis, Acral ulceration	OMIM:256800
Poems Syndrome	Increased circulating antibody level	ORPHA:2905
Williams Syndrome	Recurrent urinary tract infections, Hypoplasia of penis, Renal insufficiency, Proteinuria, Urethr...	ORPHA:904
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Short eyelashes, Sparse body hair	OMIM:608615
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Hepatomegaly, Intestinal malrotation, Supernumerary nipple, Spl...	OMIM:312870
Malignant Atrophic Papulosis	Pleural effusion, Dermal atrophy, Papule	ORPHA:679
Charcot-Marie-Tooth Disease Type 4B2	Tongue atrophy, Penetrating foot ulcers	ORPHA:99956
Trichinellosis	Skin rash, Increased circulating IgE level, Conjunctivitis	ORPHA:863
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Acral ulceration	OMIM:256840
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Increased circulating antibody level	OMIM:606002
Intellectual Developmental Disorder, Autosomal Dominant 68	Sparse hair, Intrauterine growth retardation, Joint contracture of the 5th finger	OMIM:619934
Cysticercosis	Iridocyclitis, Increased circulating antibody level, Infectious encephalitis	ORPHA:1560
Trisomy 8P	Cryptorchidism, Malrotation of small bowel, Cleft palate, Aplasia/Hypoplasia of the gallbladder, ...	ORPHA:264450
Parkes Weber Syndrome	Scaling skin, Skin ulcer, Abnormal lymphatic vessel morphology	ORPHA:90307
Hawkinsinuria	Sparse hair	OMIM:140350
Leptospirosis	Pericarditis, Skin rash, Cellular urinary casts, Hepatitis, Uveitis, Optic neuritis, Acute kidney...	ORPHA:509
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Orthokeratotic hyperkeratosis, Hypoplastic sweat glands, Epidermal thickening, Thickened skin	ORPHA:73223
Congenital Disorder Of Glycosylation, Type Iid	Elevated circulating aspartate aminotransferase concentration	OMIM:607091
Pmm2-Cdg	Pericarditis, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, A...	ORPHA:79318
Kindler Syndrome	Ridged nail, Phimosis, Spotty hypopigmentation, Dermal atrophy, Diffuse skin atrophy	OMIM:173650
Genitopatellar Syndrome	Anal stenosis, Periventricular heterotopia, Cryptorchidism, Malrotation of small bowel, Anteriorl...	OMIM:606170
Neurocardiofaciodigital Syndrome	Sparse hair, Short stature, Sparse eyebrow	OMIM:619869
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer	OMIM:245660
Split Cord Malformation	Penetrating foot ulcers	ORPHA:573278

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 B4galt1

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 B4galt1.

No publications found that use IMPC mice or data for B4galt1.

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
B4galt1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
B4galt1^{tm372(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
B4galt1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
B4galt1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	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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