Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
aryl-hydrocarbon receptor
Synonyms:
Ah,  dioxin receptor,  bHLHe76,  Ahre,  In,  Ahh

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ahr mutations

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinitis Pigmentosa
Optic atrophy, Bone spicule pigmentation of the retina, Hyperinsulinemia, Abnormal testis morphol... ORPHA:791
Retinitis Pigmentosa 85
Rod-cone dystrophy OMIM:618345

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:619095
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618152
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl... OMIM:617576
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr... OMIM:301099
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Absent sperm... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 10
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 11
Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:301059
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot... OMIM:619515
Spermatogenic Failure 78
Tapered sperm head, Male infertility, Microcephalic sperm head OMIM:620170
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A... OMIM:618664
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell... OMIM:618643
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Male infertility, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 86
Abnormal sperm head morphology, Male infertility, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Spermatogenic Failure 5
Macrozoospermia, Male infertility, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 64
Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti... OMIM:619696
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Failure to thrive, T... OMIM:615285
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Premature Ovarian Failure 5
Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar... OMIM:611548
Ovarian Dysgenesis 2
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hirsutism, Hypergonadotro... OMIM:300510
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Spermatogenic Failure 38
Abnormal sperm head morphology, Male infertility, Abnormal axonemal organization of respiratory m... OMIM:618433
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Classic Mycosis Fungoides
Hypopigmented skin patches, Hepatomegaly, Skin ulcer, Lymphadenopathy, Abnormality of the nail, S... ORPHA:2584
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Perrault Syndrome 6
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... OMIM:617565
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Epidermal acanthosis, Jaundice, Hepatomegaly, Parakeratosis, Sclerosing cholangitis, Thick hair, ... OMIM:607626
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona... ORPHA:261529
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Peutz-Jeghers Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Abnormality of the gallbladder, Multiple len... ORPHA:2869
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Premature Ovarian Failure 18
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... OMIM:619203
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Premature Ovarian Failure 6
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... OMIM:612310
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hy... OMIM:615395
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Acute kidney injury, Renal insufficiency, Dysuria, Uric acid nephrolithiasis, Dystonia, Macroscop... ORPHA:79233
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... OMIM:615724
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections, Recurrent bacterial in... OMIM:613495
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thick hair, Lim... OMIM:613489
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Trichohepatoenteric Syndrome 2
Trichorrhexis nodosa, Cirrhosis, Hepatomegaly, Brittle hair, Diarrhea, Chronic diarrhea, Colitis,... OMIM:614602
Idiopathic Hypereosinophilic Syndrome
Elevated circulating hepatic transaminase concentration, Portal fibrosis, Myocardial eosinophilic... ORPHA:3260
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circul... OMIM:614576
Caroli Disease
Cholestasis, Biliary cirrhosis, Ascites, Splenomegaly, Anorexia, Jaundice, Intrahepatic cholestas... ORPHA:53035
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Absent pubic hair, Hypoplasia of the ovary, Decreased circulating gonadotropin c... OMIM:614841
X-Linked Agammaglobulinemia
Chronic otitis media, Chronic diarrhea, Skin rash, Glossoptosis, Sinusitis, Neoplasm, Recurrent c... ORPHA:47
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Psoriasis 14, Pustular
Nail dystrophy, Epidermal acanthosis, Parakeratosis, Cholangitis, Furrowed tongue, Leukocytosis, ... OMIM:614204
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Decreased circulating IgG4 level, Recurre... OMIM:300310
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Short stature, Failure to ... OMIM:614480
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Arthritis, Uric acid ne... ORPHA:411536
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Nail dystrophy, Elevated circulating hepatic transaminase concentration, Chronic diarrhea, Cardio... OMIM:615895
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Whim Syndrome 1
Abnormal female external genitalia morphology, Recurrent bacterial infections, Decreased circulat... OMIM:193670
Immunodeficiency 35
Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ... OMIM:611521
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... OMIM:618841
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea ORPHA:397685
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Sepsis, Increased circulating interleukin 6 concentration, Pancreatitis, Abnorma... ORPHA:70578
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Renal insufficiency, Arthritis, Sensorineural hearing impairment, Uric acid ... ORPHA:411543
Hardikar Syndrome
Hematemesis, Decreased liver function, Elevated circulating hepatic transaminase concentration, B... OMIM:301068
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Microsporidiosis
Intermittent diarrhea, Cachexia, Chronic diarrhea, Sinusitis, Biliary tract abnormality, Skin nod... ORPHA:2552
Ethanolaminosis
Cardiomegaly OMIM:227150
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Intestinal inflammation, Hemophagocytosis, Pancytopenia, Chronic diarr... OMIM:619858
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, C... ORPHA:2137
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... OMIM:220150
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... OMIM:614129
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Non-Syndromic Genetic Deafness
Abnormal vestibulo-ocular reflex, Postlingual sensorineural hearing impairment, Prelingual sensor... ORPHA:87884
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Anal stenosis, Skin ulcer, Anal canal squamous cell carcinoma, Neoplasm of the r... ORPHA:424019
Interstitial Cystitis
Abnormality of the bladder, Pollakisuria, Dysuria, Urinary urgency, Functional abnormality of the... ORPHA:37202
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry... OMIM:614840
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Lichen Planopilaris
Neoplasm of the oral cavity, Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Abnormal int... ORPHA:525
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig... OMIM:608106
Immunodeficiency 104
Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Failure to thrive secondary to recurrent i... OMIM:608971
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Recurrent pneumonia, Decreased circulating total IgM,... OMIM:613500
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, Chronic diarrhea, T lymphocytopenia, Growth delay, Recurrent ... OMIM:619164
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Cholesteryl Ester Storage Disease
Steatorrhea, Increased circulating lactate dehydrogenase concentration, Acute hepatic failure, Sp... OMIM:278000
Graft Versus Host Disease
Scaling skin, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality o... ORPHA:39812
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Skin rash, Hepatomegaly, Splenomegaly OMIM:619175
Hyperuricemia, Hprt-Related
Hyperuricosuria, Nephrolithiasis, Podagra, Renal insufficiency OMIM:300323
Prolidase Deficiency
Diffuse telangiectasia, Hepatomegaly, Anemia, Facial hirsutism, Skin ulcer, Petechiae, High palat... OMIM:170100
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Cholangitis, Pancytopenia, Thyroiditis, Neutropenia in presence of anti-neutropil anti... ORPHA:228426
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Chronic oral candidiasis, Scaling skin, Lymphadenopathy, Thyroiditis... OMIM:606367
Prolidase Deficiency
Hepatomegaly, Skin ulcer, Hyperkeratosis, Hirsutism, Aplasia/Hypoplasia of the skin, Dry skin, Pa... ORPHA:742
Dyskeratosis Congenita
Premature graying of hair, Nail dystrophy, Neoplasm of the pancreas, Hypermelanotic macule, Anore... ORPHA:1775
Lesch-Nyhan Syndrome
Podagra, Nephrolithiasis, Short stature, Nephrocalcinosis, Opisthotonus, Dystonia, Choreoathetosi... OMIM:300322
Diffuse Cutaneous Mastocytosis
Scaling skin, Malnutrition, Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Lymphocyt... ORPHA:79456
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulati... OMIM:613502
Leishmaniasis
Anorexia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Lymphade... ORPHA:507
Takayasu Arteritis
Inflammatory abnormality of the eye, Hypertension, Cerebral ischemia, Hypertensive crisis, Anorex... ORPHA:3287
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Abdominal distention, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circula... ORPHA:369
Immunodeficiency 114, Folate-Responsive
Postnatal growth retardation, Hepatomegaly, Skin ulcer, Chronic diarrhea, Megaloblastic anemia, A... OMIM:620603
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Neutropenia, Cholangitis, Chronic mucocutaneous candidiasis, Viral hepatitis, Bi... OMIM:209920
Immunodeficiency 56
Cirrhosis, Recurrent otitis media, Cholangitis, Chronic diarrhea, Bronchiectasis, Failure to thri... OMIM:615207
Alveolar Echinococcosis
Decreased liver function, Jaundice, Liver abscess, Cholangitis, Anemia, Abnormality of the diaphr... ORPHA:284
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Syndromic Diarrhea
Abnormal heart morphology, Splenomegaly, Lymphopenia, Bicuspid aortic valve, Intrauterine growth ... ORPHA:84064
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Chronic decreased circulating total IgG, Reduced isohemagglutinin level, ... OMIM:613493
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Chronic diarrhea, Abnormal lymphocyte morphol... ORPHA:39041
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,... ORPHA:319552
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Chronic diarrhea, Eczem... OMIM:269840
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Disseminated cryptosporidium infection, Recurrent meningococcal ... OMIM:614372
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Malakoplakia
Prostate neoplasm, Hematuria, Neoplasm of the rectum, Skin rash, Dysuria, Urinary hesitancy, Urin... ORPHA:556
Hemochromatosis, Type 2B
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:613313
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Abnormality of secondary se... ORPHA:243
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic diarrhea, Chronic neutropenia, Recurrent sinusitis, Splenomegaly, Erythema nodosum, Pancy... OMIM:614700
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Folliculitis, Inflammation of the ... OMIM:300635
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hepatocellular adenoma, Elevated circulating hepatic transaminase concentration,... ORPHA:264580
Caroli Syndrome
Hematemesis, Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal intrah... ORPHA:480520
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Leuk... ORPHA:824
Immunodeficiency 92
Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ... OMIM:619652
Cholestasis, Progressive Familial Intrahepatic, 8
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Scler... OMIM:619662
Werner Syndrome
Premature graying of hair, Hypertension, White forelock, Hypogonadism, Neoplasm, Acral lentiginou... ORPHA:902
Cronkhite-Canada Syndrome
Intestinal polyposis, Cachexia, Splenomegaly, Neoplasm, Anorexia, Abdominal pain, Dystrophic toen... ORPHA:2930
Satoyoshi Syndrome
Sparse or absent eyelashes, Abnormal hair morphology, Hypoplasia of the ovary, Abnormality of the... ORPHA:3130
Usher Syndrome, Type Ie
Rod-cone dystrophy, Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Decreased circulating IgG level, Recurrent pneumoni... OMIM:612692
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Cholangitis, Sclerosing cholangitis, Elevated circulating... ORPHA:69663
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Hepatomegaly, Hypospadias, Elevated circulating hepatic trans... OMIM:301045
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Anorexia, Cirrhosis, Jaundice, Elevated circulating hepatic transamina... ORPHA:65682
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy, Hypopigmentation of hair, Glossitis, Chronic diarrhea, Neoplas... ORPHA:2221
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Breast hypoplasia, Increased female libido, Hypoplasia of the uterus, Male hypog... ORPHA:432
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec... OMIM:308220
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Isolated Agammaglobulinemia
Pneumonia, Skin ulcer, Anemia, Inflammatory abnormality of the eye, Diarrhea, Arthritis, Skin ras... ORPHA:229717
Chronic Mucocutaneous Candidiasis
Abnormal endocardium morphology, Cheilitis, Skin ulcer, Abnormal vagina morphology, Abnormality o... ORPHA:1334
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Abdominal pain, Ascites, Lymphoma, Growth delay, Splenomeg... ORPHA:100025
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time, Delayed puberty, Elevated circulating hepatic transaminase concentrat... OMIM:614921
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Absent isohemagglutinin level, Recurrent lower respiratory tract infectio... OMIM:613501
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Foam cells, Elevated circulating alanine aminotransferase conc... OMIM:269600
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu... OMIM:240500
Griscelli Syndrome
Premature graying of hair, Hypopigmented skin patches, Jaundice, Hepatomegaly, Lymphadenopathy, S... ORPHA:381
Cholestasis, Progressive Familial Intrahepatic, 11
Hepatomegaly, Pruritus, Elevated circulating alanine aminotransferase concentration, Elevated cir... OMIM:619874
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Nail dystrophy, Small nail, Chronic diarrhea, Sparse hair, Hypogonadism, ... OMIM:601675
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Knee flexion contracture, Pancytopenia, Arthritis, Sterile arthritis, Elbow flexion contracture, ... OMIM:604416
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... ORPHA:206484
Beta-Thalassemia
Hepatomegaly, Anemia, Skin ulcer, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, ... ORPHA:848
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Jaundice, Elevated circulating hepatic transaminase concentration, ... ORPHA:79303
Dominant Beta-Thalassemia
Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, High-output congestive heart fa... ORPHA:231226
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... ORPHA:1916
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Premature graying of hair, Nail dystrophy, Nail dysplasia, Pancytopenia, Palmopl... OMIM:613989
Cranioectodermal Dysplasia 2
Elevated circulating hepatic transaminase concentration, Portal fibrosis, Hypertension, Cholestas... OMIM:613610
Transaldolase Deficiency
Decreased liver function, Clitoral hypertrophy, Splenomegaly, Micronodular cirrhosis, Intrauterin... OMIM:606003
Juvenile Hyaline Fibromatosis
Skin ulcer, Abnormality of the gastrointestinal tract, Abnormal hair morphology, Gingival fibroma... ORPHA:2028
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hematuria, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Urethral stric... ORPHA:79403
Immunodeficiency With Hyper-Igm, Type 1
Chronic oral candidiasis, Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Stomatitis, Enterovira... OMIM:308230
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Decreased circulating IgE, Skin rash, Hypoplasia of the thymus, Recurre... OMIM:300400
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent sinusitis, Increased circulating IgG level, Decreased circulating antibody level, Invas... ORPHA:98813
Solitary Rectal Ulcer Syndrome
Intermittent diarrhea, Rectal prolapse, Anemia, Anal fissure, Abdominal pain, Bloody diarrhea, De... ORPHA:209964
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Sclerosing cholangitis, Squamous cell carcinoma, Atopic dermatitis, Eczem... OMIM:243700
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Hypertrichosis, Eczematoid dermatitis OMIM:176090
Retinitis Pigmentosa 89
Intrahepatic bile duct dilatation, Esophageal varix, Hepatosplenomegaly, Micronodular cirrhosis, ... OMIM:618955
Hereditary Spherocytosis
Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Cryoglobulinemic Vasculitis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopa... ORPHA:91138
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Acute otitis media, Sclerosing cholangitis, Pancytopenia, Diarrhea, ... ORPHA:572
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Recurrent bronchitis, Impaired T cell function, Bronchiectasis, Decreased... OMIM:607594
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Reduced circulating... ORPHA:2235
Glycogen Storage Disease Iii
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced muscle glycogen de... OMIM:232400
Deleted in azoospermia
Azoospermia OMIM:400003
Immunodeficiency 40
Chronic oral candidiasis, Rectal fistula, Recurrent otitis media, Macrovesicular hepatic steatosi... OMIM:616433
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Pericarditis, Lymphocytoma cutis, Cholecystitis, Urinary... ORPHA:449395
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Enlarged kidney, Hypertension, Cholestasis, Ascites, Biliary hyperpl... ORPHA:731
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,... OMIM:194072
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Pulmonary edema, Increased circulating interleukin 6... ORPHA:542323
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Neutropenia, Anemia, Ileus, Lymphadenopathy, Arthritis, Decreased FOXP3-expressi... OMIM:304790
Frasier Syndrome
Ambiguous genitalia, male, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Primary am... ORPHA:347
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Frontal upsweep of hair, Hepatomegaly, Anemia, Cholangitis, Rhizomelia, Hypertension, Cholestasis... OMIM:266920
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Scaling skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkeratosis, Tendon thickening, ... ORPHA:530838
Polycystic Ovary Syndrome 1
Oligomenorrhea, Amenorrhea, Hirsutism, Enlarged polycystic ovaries OMIM:184700
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Scaling skin, Elevated circulating hepatic transaminase concentrati... ORPHA:101330
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly OMIM:606445
Hereditary Xanthinuria
Acute kidney injury, Hematuria, Xanthinuria, Recurrent urinary tract infections, Decreased urinar... ORPHA:3467
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Hypercalciuria, Bi... ORPHA:47159
Infantile Myofibromatosis
Fibroma, Intestinal obstruction, Neoplasm of the pancreas, Skin ulcer, Gingival fibromatosis, Abn... ORPHA:2591
Beta-Thalassemia Intermedia
Decreased liver function, Cirrhosis, Jaundice, Hypoparathyroidism, Hepatomegaly, Cholelithiasis, ... ORPHA:231222
Reticular Dysgenesis
Chronic otitis media, Skin ulcer, Anemia, Diarrhea, Skin rash, Failure to thrive, Leukopenia, Mal... ORPHA:33355
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... OMIM:233420
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Sepsis, Atelectasis, Respiratory tract infection, Pneumonia ORPHA:70587
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:66628
Respiratory Distress Syndrome In Premature Infants
Edema, Pulmonary edema, Atelectasis OMIM:267450
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Psoriasiform lesion, Lymphocytosis... ORPHA:169154
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Mantle Cell Lymphoma
Anorexia, Abnormality of the gastrointestinal tract, Lymphadenopathy, Splenomegaly, Weight loss, ... ORPHA:52416
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent otitis media, Liver abscess, Cholangitis, Recurrent tonsillitis, Chronic gastritis, Ski... ORPHA:183675
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Giant Cell Arteritis
Anorexia, Gastrointestinal infarctions, Skin ulcer, Mediastinal lymphadenopathy, Glossitis, Vascu... ORPHA:397
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Caspase 8 Deficiency
Lymphadenopathy, Chronic diarrhea, Eczematoid dermatitis, Short stature, Failure to thrive, Splen... OMIM:607271
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Infertility, Decreased testicular size, Reduced sperm motility, A... ORPHA:320391
Spermatogenic Failure, X-Linked, 1
Obesity, Sertoli cell-only phenotype OMIM:305700
Chilblain Lupus
Skin ulcer, Malar rash, Erythematous papule, Skin rash, Discoid lupus rash, Hyperkeratosis, Infla... ORPHA:90280
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Chronic diarrhea, Elevated circulating alanine aminotransferase conce... OMIM:618805
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Skeletal muscle atrophy, Hepatic fibrosis,... OMIM:616719
Chronic Granulomatous Disease
Hypermelanotic macule, Hepatomegaly, Liver abscess, Mediastinal lymphadenopathy, Skin ulcer, Infl... ORPHA:379
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Cutaneous Mastocytoma
Scaling skin, Hypermelanotic macule, Erythema, Maculopapular exanthema, Erythematous papule, Abdo... ORPHA:79455
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Anemia, Increased mean corpuscular volume, Ascites, Intrauterine growth... OMIM:617021
Dubowitz Syndrome
Abnormal female external genitalia morphology, Chronic diarrhea, Neoplasm, Intrauterine growth re... ORPHA:235
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... ORPHA:179494
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho... OMIM:600803
Erythrokeratodermia Variabilis
Hypermelanotic macule, Abnormal hair morphology, Abnormality of the nail, Skin rash, Neoplasm of ... ORPHA:317
Beta-Thalassemia Major
Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume... ORPHA:231214
Donohue Syndrome
Nail dysplasia, Abdominal distention, Hypermelanotic macule, Severe failure to thrive, Clitoral h... OMIM:246200
Preeclampsia
Pulmonary edema, Polycystic ovaries, Elevated circulating hepatic transaminase concentration, Hel... ORPHA:275555
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg... OMIM:619658
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormal va... ORPHA:537
Hemochromatosis, Type 1
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:235200
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal vestibulo-ocular reflex, Urinary incontinence, Resting tremor, Macular degeneration, Int... ORPHA:247234
Kerion Celsi
Lymphadenopathy, Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Rec... ORPHA:499
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypospadias, Renal insufficiency, Sensorineural hearing impairment, Uric acid nephrolithiasis, Lo... OMIM:300661
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Nail dystrophy, Elevated circulating hepatic transaminase concentration, Cachexia, Abnormal intes... ORPHA:37042
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Generalized aminoaciduria, Abnormal urine pH, R... ORPHA:3337
Refractory Celiac Disease
Elevated alkaline phosphatase of bone origin, Protein-losing enteropathy, Elevated circulating he... ORPHA:398063
Trichohepatoenteric Syndrome 1
Cholestasis, Pulmonic stenosis, Bifid uvula, Splenomegaly, Sparse hair, Intrauterine growth retar... OMIM:222470
Adams-Oliver Syndrome 6
Esophageal varix, Truncus arteriosus, Tricuspid regurgitation, Portal hypertension, Aplasia cutis... OMIM:616589
Peutz-Jeghers Syndrome
Rectal prolapse, Neoplasm of the pancreas, Gastrointestinal carcinoma, Iron deficiency anemia, Hy... OMIM:175200
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat... OMIM:619868
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiectasia, Pericard... OMIM:235510
Mirage Syndrome
Chronic diarrhea, Leukopenia, Lymphopenia, Intrauterine growth retardation, Hypospadias, Petechia... OMIM:617053
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Alopecia of scalp, Hepatomegaly, Genital ulcers, Erythematous papule, Abnormally low T cell recep... OMIM:602450
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Intrauterine growth retardation, Increa... OMIM:615010
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Chronic diarrhea, Skin rash, Abdominal pain,... OMIM:142680
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Large for gestational age, Truncal obesity, Increased... ORPHA:293964
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Elevated circulating hepatic transaminase concentration, Increased body w... ORPHA:79240
Ficolin 3 Deficiency
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... OMIM:613860
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:620010
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Chronic diarrhea, Skin rash, Recurrent bacterial skin infections, Chronic oral can... ORPHA:911
Leprechaunism
Postnatal growth retardation, Abdominal distention, Rectal prolapse, Hepatomegaly, Enlarged kidne... ORPHA:508
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis ORPHA:242
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal esophagus physiology, Pa... ORPHA:2198
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Scaling skin, Parakeratosis, Elevated circulating hepatic transaminase concentration, Psoriasifor... ORPHA:284426
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, E... OMIM:124000
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia... ORPHA:79301
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Elevated circulating hepatic transaminase concentration, Bradycardia, Cent... OMIM:613327
Bile Acid Synthesis Defect, Congenital, 3
Prolonged prothrombin time, Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated... OMIM:613812
Immunodeficiency 11B With Atopic Dermatitis
Severe cytomegalovirus infection, Pneumonia, Increased circulating IgE level, Atopic dermatitis, ... OMIM:617638
Cystic Fibrosis
Cirrhosis, Hepatomegaly, Pancreatitis, Steatorrhea, Rectal prolapse, Male infertility, Diarrhea, ... OMIM:219700
Deafness, Autosomal Recessive 103
Sensorineural hearing impairment, Abnormal vestibular function, Vestibular areflexia OMIM:616042
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Polycystic ovaries, Decreased fertility, Hypogonadotropic hypogonadism ORPHA:1643
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating hepatic transaminase concentration, Skin rash, Hypertension, Bone marrow hyp... OMIM:615688
Hepatoportal Sclerosis
Prolonged prothrombin time, Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Ja... ORPHA:64743
Aicardi-Goutieres Syndrome 9
Elevated circulating hepatic transaminase concentration, Hypertension, Chilblains, Ascites, Peric... OMIM:619487
Bardet-Biedl Syndrome 10
Retinal dystrophy, Renal insufficiency, Renal cyst, Obesity, Hypogonadism, Rod-cone dystrophy OMIM:615987
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly ORPHA:882
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Ambiguous genitalia, male, Hypoplasia of penis, Abnormality of the endocrine system, Bifid scrotu... ORPHA:753
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Recurrent aphthous stomatitis, Skin rash, Hashimoto thyroiditis, Decrea... ORPHA:275
Immunodeficiency 34
BCGosis, Pulmonary tuberculosis, Recurrent mycobacterial infections OMIM:300645
Fowler Urethral Sphincter Dysfunction Syndrome
Hirsutism, Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries ORPHA:2795
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Sandhoff Disease
Hepatomegaly, Failure to thrive, Cherry red spot of the macula, Splenomegaly, Abnormal glycosphin... ORPHA:796
Alg1-Cdg
Decreased liver function, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, ... ORPHA:79327
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Generalized limb muscle atrophy, Distal lower limb muscle weakness, Acute hepatic failure, Hepato... ORPHA:466794
Dermatomyositis
Elevated circulating hepatic transaminase concentration, Inflammatory myopathy, Skin rash, Sinus ... ORPHA:221
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Portal inflammation, Pulmonary artery atresia, Elevated circulating alanine ... OMIM:613759
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Kid Syndrome
Scaling skin, Corneal neovascularization, Nail dystrophy, Epidermal acanthosis, Neoplasm of the t... ORPHA:477
Free Sialic Acid Storage Disease
Hepatomegaly, Skin ulcer, Ascites, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall muscula... ORPHA:834
Immunodeficiency 116
Bronchiectasis, Recurrent respiratory infections, Recurrent viral infections, Recurrent bacterial... OMIM:608957
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Gastroesophageal reflux, Pancytopenia, Chronic diarrhea, Portal hypertension, Campt... OMIM:613385
Variegate Porphyria
Elevated urinary delta-aminolevulinic acid, Porphyrinuria, Increased urinary porphobilinogen OMIM:176200
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Decreased response to growth hormone st... OMIM:307200
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Elevated circulating hepatic transaminase concentration, Small nail, Pulmoni... OMIM:301056
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Skin rash, Leukocytosis, Failure to thrive, Hepatosplenom... OMIM:618963
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, BCGosis, Chronic mucocutaneous candidiasis... OMIM:620449
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Splenomegaly, Abnorm... ORPHA:100024
Wilson Disease
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Hepatomegal... ORPHA:905
Verrucous Hemangioma
Epidermal acanthosis, Hemangioma, Inflammatory abnormality of the skin, Hyperkeratotic papule, Sk... ORPHA:464318
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Cachexia, Freckled genitalia, Abnormal heart morphology, Hematochezi... ORPHA:79076
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Vasculitis, Skin rash, Arthritis, Leukocytosis, Increased ... ORPHA:37748
Cutis Laxa, Autosomal Recessive, Type Ic
Rectal prolapse, Gastroesophageal reflux, Accessory spleen, Morgagni diaphragmatic hernia, Redund... OMIM:613177
Idiopathic Achalasia
Bronchitis, Decreased circulating prealbumin concentration, Recurrent aspiration pneumonia ORPHA:930
Ovarian Hyperstimulation Syndrome
Pulmonary edema, Hemorrhagic ovarian cyst, Pleural effusion, Enlarged polycystic ovaries, Ascites... ORPHA:64739
Molybdenum Cofactor Deficiency, Complementation Group A
Xanthinuria, Decreased urinary sulfate, Increased urinary taurine, Decreased urinary urate, Growt... OMIM:252150
American Trypanosomiasis
Myocarditis, Congestive heart failure, Localized skin lesion, Hepatomegaly, Aganglionic megacolon... ORPHA:3386
Atypical Werner Syndrome
Premature graying of hair, Delayed puberty, Neoplasm of the skin, Hypertension, Calf muscle hyper... ORPHA:79474
Friedreich Ataxia
Optic atrophy, Impaired visually enhanced vestibulo-ocular reflex, Intention tremor, Urinary blad... ORPHA:95
Reynolds Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Skin ulcer, Gastroesophageal reflux, Arthritis, Skin rash, Xer... ORPHA:779
Autoinflammation With Infantile Enterocolitis
Anemia, Episodic vomiting, Pancytopenia, Skin rash, Short stature, Enterocolitis, Failure to thri... OMIM:616050
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent sinusitis, Splenomegaly, Erythematous macule, Hepatosplenomegaly, Increased proportion ... OMIM:615559
Wild Type Attr Amyloidosis
Congestive heart failure, Intermittent diarrhea, Hepatomegaly, Bradycardia, Atrial fibrillation, ... ORPHA:330001
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Intraut... OMIM:620376
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Premature graying of hair, Gastrointestinal hemorrhage, Retinal telangiectasia, Pancytopenia, Eso... OMIM:617341
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Recurrent opportun... OMIM:601457
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis, Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Shigellosis
Cholestasis, Paralytic ileus, Myocarditis, Anorexia, Abdominal pain, Splenic abscess, Nausea, Abd... ORPHA:810
Congenital Tufting Enteropathy
Cholestatic liver disease, Abnormal large intestinal mucosa morphology, Steatorrhea, Elevated fec... ORPHA:92050
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Hypotrichosis Simplex Of The Scalp
Slow-growing scalp hair, Scaling skin, Alopecia of scalp, Epidermal acanthosis, Parakeratosis, Hy... ORPHA:90368
Necrobiosis Lipoidica
Skin ulcer, Squamous cell carcinoma, Indurated nodule, Atrophic scars, Abnormality of neutrophil ... ORPHA:542592
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Hypoplastic spleen, Dysphagia, Feeding difficulties, Intrauterine growth re... ORPHA:89844
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Lymphadenopathy, Splenomegaly, Weight loss, Pruritus ORPHA:86893
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Steatorrhea, Chronic diarrhea, Splenomegaly, Recurrent pancreatitis, Wo... OMIM:618268
Complement Component 4B Deficiency
Recurrent otitis media, Chronic active hepatitis, Chronic diarrhea, Recurrent sinusitis, Recurren... OMIM:614379
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Growth delay, Splenomegaly, Weight loss ORPHA:79238
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... ORPHA:314478
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Mpi-Cdg
Decreased liver function, Gastrointestinal hemorrhage, Hepatomegaly, Protein-losing enteropathy, ... ORPHA:79319
Hypomagnesemia 3, Renal
Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Hyposthenuria, Nephrolit... OMIM:248250
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Skin rash, Sinusitis, Pericarditis, Epistaxis, Nausea and vomiting, ... ORPHA:727
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Postnatal growth retardation, Hepatomegaly, Short stature, Decreased circulating IgG level, Coarc... OMIM:620210
Combined Immunodeficiency, X-Linked
Pneumocystis carinii pneumonia, Recurrent bronchitis, Sinusitis, Decreased circulating IgG level,... OMIM:312863
Bacterial Toxic-Shock Syndrome
Scaling skin, Skin rash, Sinusitis, Myocarditis, Localized skin lesion, Abdominal pain, Increased... ORPHA:36234
Acrodermatitis Enteropathica
Cheilitis, Ridged nail, Chronic diarrhea, Pustule, Abnormal eyebrow morphology, Anorexia, Abnorma... ORPHA:37
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Skin rash, Thrombocytopenia, S... OMIM:603552
Immunodeficiency 115 With Autoinflammation
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Ele... OMIM:620632
Cog7-Cdg
Postnatal growth retardation, Jaundice, Excessive wrinkled skin, Elevated circulating hepatic tra... ORPHA:79333
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Impaired lymphocyte transformation with phytohemagglutinin, Intestinal ma... OMIM:243150
Dracunculiasis
Skin ulcer, Diarrhea, Arthritis, Skin rash, Nausea and vomiting, Flexion contracture, Subcutaneou... ORPHA:231
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Aortic valve stenosis, Cutis laxa, Cardiomegaly, Bicuspid aortic val... ORPHA:363705
Bardet-Biedl Syndrome 5
Macular dystrophy, External genital hypoplasia, Obesity, Hypogonadism, Micropenis, Rod-cone dystr... OMIM:615983
Immunodeficiency, Common Variable, 13
Polyhydramnios, Decreased circulating antibody level, Recurrent viral infections, Recurrent funga... OMIM:616873
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for ges... OMIM:601820
Dpm1-Cdg
Nail dysplasia, Muscular dystrophy, High, narrow palate, Hepatomegaly, Elevated circulating hepat... ORPHA:79322
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Activated Pi3K-Delta Syndrome
Severe cytomegalovirus infection, Recurrent otitis media, Severe Epstein Barr virus infection, Re... ORPHA:397596
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El... ORPHA:562639
Hurler Syndrome
Hepatomegaly, Angina pectoris, Abnormality of the tonsils, Abnormal heart valve morphology, Hyper... ORPHA:93473
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Duodenal ulcer, Skin rash, Dysphagia, Early satiety, Recurrent cutaneous abscess formation, Gastr... OMIM:147060
Glycogen Storage Disease Vi
Postnatal growth retardation, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... OMIM:232700
Epidermolysis Bullosa Acquisita
Nail dystrophy, Milia, Abnormal hair morphology, Abdominal pain, Inflammation of the large intest... ORPHA:46487
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Pancytopenia, Crohn's disease, Chronic diarrhea, Splenomegaly, Bronchie... OMIM:618394
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy, Sensorineural hearing impairment, Vestibular areflexia, Intention tremor ORPHA:504476
Myoectodermal Gonadal Dysgenesis Syndrome
Scaling skin, Gonadal dysgenesis, Accessory spleen, Highly arched eyebrow, Diastasis recti, Dry s... OMIM:618419
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent candida infections, Increased circulating IgE level, Recurrent ba... ORPHA:217390
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Atopic derma... ORPHA:436159
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Persistent CMV vir... OMIM:300853
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Skin ulcer, Abdominal pain, Hypertension, Cardiomyopat... ORPHA:767
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Immunodeficiency 97 With Autoinflammation
Increased circulating lactate dehydrogenase concentration, Splenomegaly, Lymphopenia, Monocytopen... OMIM:619802
Immunodeficiency 38 With Basal Ganglia Calcification
Severe viral infection, BCGitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:616126
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Foam cells with lamellar in... OMIM:607616
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroesophageal reflux, Intestinal pseudo-obstruction, ... OMIM:619350
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Scaling skin, Alopecia of scalp, Epidermal acanthosis, Generalized hyperkeratosis, Absent pubic h... ORPHA:2269
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Recurrent sinusitis, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Increased ci... ORPHA:169160
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Stroke, Splenomegaly, Lymph... ORPHA:444463
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Rat-Bite Fever
Scaling skin, Skin rash, Pericarditis, Pustule, Erythema nodosum, Morbilliform rash, Myocarditis,... ORPHA:31205
Primary Sclerosing Cholangitis
Prolonged prothrombin time, Elevated circulating hepatic transaminase concentration, Neoplasm of ... ORPHA:171
Sézary Syndrome
Nail dystrophy, Hepatomegaly, Palmoplantar keratoderma, Lymphadenopathy, Neoplasm of the skin, Ab... ORPHA:3162
Farber Disease
Elevated circulating hepatic transaminase concentration, Anemia, Lymphadenopathy, Abnormal circul... ORPHA:333
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Keratosis Palmoplantaris Striata Ii
Palmoplantar keratoderma, Epidermal acanthosis, Abnormality of the nail, Abnormal hair morphology OMIM:612908
Mogs-Cdg
Pulmonary edema, External genital hypoplasia, Polyhydramnios, Decreased circulating antibody leve... ORPHA:79330
Lysosomal Acid Lipase Deficiency
Decreased liver function, Xanthelasma, Steatorrhea, Elevated circulating hepatic transaminase con... ORPHA:275761
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism OMIM:613546
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Pancreatitis, Coronary artery atherosclerosis, Polycystic ovaries, Hepatic steatosis ORPHA:79084
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Sepsis, Jaundice, Abnormal immunoglobulin level, Recurrent opportunisti... ORPHA:276
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Cirrhosis, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Eso... ORPHA:974
Cadds
Intrauterine growth retardation, Cholestasis, Elevated circulating hepatic transaminase concentra... ORPHA:369942
Bardet-Biedl Syndrome 11
Retinopathy, Obesity, Hypogonadism OMIM:615988
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated circulating hepatic transaminase concentration, Cholestasis, Esophagitis, Growth delay, ... ORPHA:541423
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Hepatomegaly, Cirrhosis, Protein-losing enteropathy, Villous atrophy, Lymphangiectas... OMIM:602579
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, He... OMIM:614470
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Obesity, Hypogonadism, Cryptorchidism, Micropenis ORPHA:85274
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Purpura, Jaundice, Elevated circulating hepa... ORPHA:540
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Pulmonary edema, Peripheral edema,... ORPHA:57777
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Secondary Short Bowel Syndrome
Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Cholestasis, Small intestinal... ORPHA:95427
Kaposi Sarcoma
Hypermelanotic macule, Abnormality of the gastrointestinal tract, Diarrhea, Skin rash, Neoplasm o... ORPHA:33276
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Recurrent infection of the gastrointestinal tract, Recurr... OMIM:608184
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Chronic diarrhea, Impotence, Episodic abdominal pain, Hepa... OMIM:268800
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism ORPHA:2229
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Mixed Connective Tissue Disease
Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Gastritis, Mediastinal lymphadenopathy, G... ORPHA:809
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Aa Amyloidosis
Enlarged kidney, Hepatomegaly, Chronic diarrhea, Abdominal pain, Cholestasis, Hypotension, Vomiti... ORPHA:85445
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Dietary Iron Overload Disease
Congestive heart failure, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, H... ORPHA:139507
Vestibulocochlear Dysfunction, Progressive
Progressive hearing impairment, Tinnitus, Vestibular areflexia OMIM:193005
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Cholestasis, Short stature, Obesity, Splenomegaly, Hepatic fibrosis, Ventricular se... OMIM:615630
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Small pituitary gland, Impotence, Abno... ORPHA:2232
Congenital Toxoplasmosis
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemia, Lymphade... ORPHA:858
Immunodeficiency 42
Chronic oral candidiasis, Hepatomegaly, Recurrent aphthous stomatitis, Hypoplasia of the thymus, ... OMIM:616622
Congenital Disorder Of Glycosylation, Type Ia
Prolonged prothrombin time, Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase ... OMIM:212065
Ollier Disease
Skin ulcer, Anemia, Hemangioma, Chondrosarcoma, Sarcoma, Lymphangioma, Precocious puberty, Subcut... ORPHA:296
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Cholestasis, Short stature, Failure to thrive, Splenomegaly ORPHA:172
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Bloody diarrhea, Ulcerative colitis, Anemia OMIM:619398
Immunodeficiency 62
Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib... OMIM:618459
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Wiskott-Aldrich Syndrome
Chronic otitis media, Hematemesis, Chronic diarrhea, Abnormal platelet function, Sinusitis, Epist... ORPHA:906
Plin1-Related Familial Partial Lipodystrophy
Calf muscle hypertrophy, Infertility, Hypertension, Oligomenorrhea, Hepatic fibrosis, Hepatic ste... ORPHA:280356
Ciliary Dyskinesia, Primary, 29
Atelectasis, Infertility, Decreased circulating antibody level, Bronchiectasis, Recurrent respira... OMIM:615872
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse body hair, Sparse eyebrow, Abnormal fingernail morphology, Sparse hair, Hypoplastic toenai... ORPHA:2722
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Recurrent Staphylococcus aureus infections, Sinusitis, Opportunistic infect... ORPHA:83471
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Papa Syndrome
Skin ulcer, Lymphadenopathy, Myositis, Arthritis, Crohn's disease, Pustule, Acne, Increased infla... ORPHA:69126
Acrogeria
Skin ulcer, Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Short stature, Thin skin, Te... ORPHA:2500
Aicardi-Goutieres Syndrome 5
Scaling skin, Dry skin, Chilblains, Thrombocytopenia, Flexion contracture, Feeding difficulties i... OMIM:612952
Acute Generalized Exanthematous Pustulosis
Scaling skin, Cheilitis, Purpura, Elevated circulating hepatic transaminase concentration, Lympha... ORPHA:293173
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hepatomegaly, Vacuolated lymphocytes, High palate, Ascites, Failure to ... OMIM:269920
Hepatorenocardiac Degenerative Fibrosis