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Gene: Ahr MGI:105043

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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

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 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
Hyperinsulinemia, Hypogonadism, Abnormal testis morphology, Optic atrophy, Type II diabetes melli... 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
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... ORPHA:529970
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:619177
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Spermatogenic Failure 24
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... OMIM:617959
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... ORPHA:1646
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Failure to thrive, Hep... OMIM:615285
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Isochromosomy Yp
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... ORPHA:98797
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... OMIM:611548
Ovarian Dysgenesis 2
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hirsutism, Hypergonadotro... OMIM:300510
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:98798
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Classic Mycosis Fungoides
Lymphoma, Alopecia, Splenomegaly, Cutaneous T-cell lymphoma, Skin rash, Skin ulcer, Eczema, Abnor... ORPHA:2584
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Perrault Syndrome 6
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... OMIM:617565
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Ovarian Dysgenesis 10
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619834
Premature Ovarian Failure 10
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... OMIM:612885
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Intrahepatic biliary atresia, Alopecia, Sparse eyebrow, Splenomegaly, Hepatic fibrosis, Hepatic f... OMIM:607626
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Peutz-Jeghers Syndrome
Esophageal neoplasm, Biliary tract neoplasm, Neoplasm, Intestinal obstruction, Cervix cancer, Pan... ORPHA:2869
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Ovarian Dysgenesis 9
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... OMIM:619665
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... ORPHA:399805
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Premature Ovarian Failure 18
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... OMIM:619203
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pulmonary edema, Abnormality of tumor necrosis... ORPHA:70578
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
X-Linked Agammaglobulinemia
Skin ulcer, Recurrent cutaneous abscess formation, Neoplasm, Abnormality of the tonsils, Chronic ... ORPHA:47
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Microve... OMIM:615395
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Elevated circulating alkaline phosphat... OMIM:613489
Premature Ovarian Failure 6
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... OMIM:612310
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Spermatogenic Failure 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Premature Ovarian Failure 9
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... OMIM:615724
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... OMIM:613953
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Uric acid nephrolithiasis, Crystalluria, Sensorineural hearing impairment, Stage 4 chronic kidney... ORPHA:411536
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Uric acid nephrolithiasis, Acute kidney injury, Dysuria, Gout, Nephropathy, Macroscopic hematuria... ORPHA:79233
Trichohepatoenteric Syndrome 2
Cirrhosis, Bloody diarrhea, Trichorrhexis nodosa, Diarrhea, Chronic diarrhea, Brittle hair, Villo... OMIM:614602
Premature Ovarian Failure 8
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... OMIM:615723
Idiopathic Hypereosinophilic Syndrome
Myelodysplasia, Feeding difficulties in infancy, Supraventricular arrhythmia, Elevated hepatic tr... ORPHA:3260
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Chronic diarrhea, Ventricular septal defect, Elevated hepatic transaminase, Intrauteri... OMIM:614576
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Caroli Disease
Biliary cirrhosis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated cir... ORPHA:53035
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent sinusitis, Complete or near-complete absence of specif... OMIM:613494
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g... OMIM:614841
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... ORPHA:52901
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Impaired Ig c... OMIM:605258
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Short stature, Elevated hepatic transaminase, Hepatic steatosis, Failure to thr... OMIM:614480
Psoriasis 14, Pustular
Oligoarthritis, Neutrophilia, Cholangitis, Parakeratosis, Pustule, Leukocytosis, Erythema, Furrow... OMIM:614204
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Eczema, Hepatomegaly, Erythroderma, Chronic diarrhea, Splenomegaly... OMIM:615895
46,Xx Testicular Disorder Of Sex Development
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size ORPHA:393
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Interstitial Cystitis
Pollakisuria, Urinary urgency, Nocturia, Abnormality of the bladder, Urinary bladder inflammation... ORPHA:37202
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Hypogonadotropic Hypogonadism 25 With Anosmia
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... OMIM:618841
Familial Hyperprolactinemia
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea ORPHA:397685
Hardikar Syndrome
Cleft soft palate, Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Celiac... OMIM:301068
Microsporidiosis
Prostatitis, Cachexia, Biliary tract abnormality, Myositis, Decreased proportion of CD4-positive ... ORPHA:2552
Whim Syndrome 1
Abnormality of female external genitalia, Bronchiectasis, Decreased circulating antibody level, A... OMIM:193670
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Uric acid nephrolithiasis, Crystalluria, Sensorineural hearing impairment, Acute kidney injury, A... ORPHA:411543
Squamous Cell Carcinoma Of The Anal Canal
Papilloma, Neoplasm of the liver, Skin ulcer, Neoplasm of the rectum, Abdominal pain, Lymphadenop... ORPHA:424019
Autoinflammatory-Pancytopenia Syndrome
Hepatic fibrosis, Chronic diarrhea, Chilblains, Membranoproliferative glomerulonephritis, Pancyto... OMIM:619858
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Abnormality of the ovary, Hypogonadism ORPHA:1875
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Ethanolaminosis
Cardiomegaly OMIM:227150
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Extramedullary hematopoiesis, Hepatosplenomegaly, Hepatom... OMIM:612840
Hypouricemia, Renal, 1
Urolithiasis, Renal cortical hyperechogenicity, Uric acid nephrolithiasis, Acute kidney injury, R... OMIM:220150
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Autoimmune Hepatitis
Spider hemangioma, Cirrhosis, Fulminant hepatitis, Arthritis, Sclerosing cholangitis, Diffuse hep... ORPHA:2137
Perrault Syndrome 3
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:614129
Hereditary Renal Hypouricemia
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... ORPHA:94088
Immunodeficiency 76
Chronic diarrhea, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphad... OMIM:619164
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Limb-girdle muscle weakness, Diarrhea, Hepatocellular carcinoma, Elevated hepatic transaminase, H... ORPHA:370
Immunodeficiency 104
T lymphocytopenia, Eczema, Recurrent otitis media, Chronic mucocutaneous candidiasis, Lymphadenop... OMIM:608971
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level OMIM:242870
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Cryptorchidism, Primary... OMIM:614840
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent respiratory infections,... OMIM:611521
Non-Syndromic Genetic Deafness
Postlingual sensorineural hearing impairment, Conductive hearing impairment, Prelingual sensorine... ORPHA:87884
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Lichen Planopilaris
Dermal atrophy, Alopecia, Hepatitis, Skin ulcer, Papule, Neoplasm of the oral cavity, Abnormal fi... ORPHA:525
Graft Versus Host Disease
Diarrhea, Inflammatory abnormality of the eye, Fasciitis, Elevated hepatic transaminase, Lichenoi... ORPHA:39812
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Respiratory distress, Edema, Dyspnea, Neonatal respiratory distress, Atelectasis... OMIM:267450
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... ORPHA:168563
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Isolated Agammaglobulinemia
Anemia, Diarrhea, Short stature, Malabsorption, Skin rash, Inflammatory abnormality of the eye, S... ORPHA:229717
Immunodeficiency 61
Decreased circulating total IgM, Recurrent respiratory infections, Arthritis, Decreased circulati... OMIM:300310
Lysosomal Acid Lipase Deficiency
Diarrhea, Hepatic foam cells, Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepa... OMIM:278000
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Impaired Ig class switch recombination, Recurrent upper and lower respiratory tract... OMIM:608106
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent otitis media, Recurr... OMIM:613500
Immunodeficiency, Common Variable, 3
Conjunctivitis, Chronic decreased circulating total IgG, Decreased circulating total IgM, Reduced... OMIM:613493
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Failure to thrive in infancy, Splenomegaly, Hepatomegaly OMIM:619175
Hyperuricemia, Hprt-Related
Podagra, Renal insufficiency, Nephrolithiasis, Hyperuricosuria OMIM:300323
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Chronic diarrhea, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia... OMIM:606367
Immunodeficiency 48
Panhypogammaglobulinemia, Failure to thrive, Absence of CD8-positive T cells, Hepatomegaly, Eczem... OMIM:269840
Prolidase Deficiency
Thin skin, Splenomegaly, Crusting erythematous dermatitis, Skin ulcer, Papule, Abnormal fingernai... ORPHA:742
Lesch-Nyhan Syndrome
Short stature, Choreoathetosis, Podagra, Dystonia, Nephrocalcinosis, Opisthotonus, Nephrolithiasi... OMIM:300322
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Recurrent mycobacterial infections, Coccidioidomycosis, Disseminated nontuberculou... ORPHA:319552
Dyskeratosis Congenita
Premature graying of hair, Abnormal testis morphology, Neoplasm of the pancreas, Skin ulcer, Neop... ORPHA:1775
Diffuse Cutaneous Mastocytosis
Hypotension, Vomiting, Abnormality of the liver, Erythroderma, Elevated total serum tryptase, Dia... ORPHA:79456
Takayasu Arteritis
Ascending tubular aorta aneurysm, Inflammatory abnormality of the eye, Skin ulcer, Hypertrophic c... ORPHA:3287
Leishmaniasis
Leukopenia, Anemia, Rhinitis, Weight loss, Abnormal macrophage morphology, Skin ulcer, Elevated h... ORPHA:507
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Short stature, Hepatocellular carcinoma, Elevated hepatic transamina... ORPHA:369
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Gastrostomy tube feeding in infancy, Hepatitis, Neutropenia in presence of anti-neutro... ORPHA:228426
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Malabsorption, Biliary tract abnormality, Cholangitis, Viral hepatitis, Chronic ... OMIM:209920
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Syndromic Diarrhea
Bloody diarrhea, Hypoplasia of the thymus, Hepatoblastoma, Gastritis, Hepatomegaly, Colitis, Peri... ORPHA:84064
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Sepsis, Pulmonary edema, Nasal flaring, Hypoxemia, Respiratory failu... ORPHA:70587
Alpha-Heavy Chain Disease
Lymphoma, Alopecia, Anemia, Malabsorption, Premature ovarian insufficiency, Abdominal pain, Lymph... ORPHA:100025
Immunodeficiency 56
Hepatic failure, Cirrhosis, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Cholangi... OMIM:615207
Omenn Syndrome
Lymphoma, Alopecia, Anemia, Aplasia/Hypoplasia of the eyebrow, Erythroderma, Chronic diarrhea, Th... ORPHA:39041
Alveolar Echinococcosis
Abnormal pericardium morphology, Pancreatic cysts, Biliary cirrhosis, Anemia, Vomiting, Decreased... ORPHA:284
Reticular Dysgenesis
Leukopenia, Anemia, Diarrhea, Weight loss, Aplasia/Hypoplasia of the thymus, Skin rash, Malabsorp... ORPHA:33355
Prolidase Deficiency
Anemia, High palate, Prolonged neonatal jaundice, Petechiae, Crusting erythematous dermatitis, Sk... OMIM:170100
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Recurrent otitis media, Recurrent pneumonia, ... OMIM:613502
Mannose-Binding Lectin Deficiency
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent Klebsiella inf... OMIM:614372
Cutaneous Mastocytoma
Hypotension, Telangiectasia macularis eruptiva perstans, Vomiting, Hyperpigmented papule, Diarrhe... ORPHA:79455
Caroli Syndrome
Cholangiocarcinoma, Elevated hepatic transaminase, Hepatomegaly, Hematemesis, Abnormality of the ... ORPHA:480520
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic fibrosis, Cirrhosis, Elevated circulating alanine aminotransferase concentration, Scleros... OMIM:619662
Hemochromatosis, Type 2B
Hepatic fibrosis, Cirrhosis, Anemia, Hypogonadism, Secondary amenorrhea, Elevated hepatic transam... OMIM:613313
Dent Disease
Renal phosphate wasting, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, ... ORPHA:1652
Perrault Syndrome 4
Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh... OMIM:615300
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ... OMIM:617394
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Pulmonary edema, Abnormality of serum cytokine... ORPHA:542323
46,Xx Gonadal Dysgenesis
Decreased fertility, Abnormality of secondary sexual hair, Ambiguous genitalia, Decreased serum e... ORPHA:243
Malakoplakia
Orchitis, Inflammatory abnormality of the skin, Dysuria, Urinary urgency, Neoplasm of the rectum,... ORPHA:556
Cronkhite-Canada Syndrome
Diarrhea, Cachexia, Neoplasm, Hepatomegaly, Furrowed tongue, Splenomegaly, Sparse body hair, Alop... ORPHA:2930
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Weight loss, Poor appetite, Macroglossia, Fine hair, Glossitis, Hypo... ORPHA:2221
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hepatocellular adenoma,... ORPHA:264580
Lymphoproliferative Syndrome, X-Linked, 2
Folliculitis, Hepatitis, Erythema nodosum, Pancytopenia, Inflammation of the large intestine, Hem... OMIM:300635
Immunodeficiency 92
Osteomyelitis, Chronic diarrhea, B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholan... OMIM:619652
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Generalized lymphadenopathy, Recurrent sinusitis, Colitis, Chronic diarrhea, Thro... OMIM:614700
Low Phospholipid-Associated Cholelithiasis
Biliary cirrhosis, Liver abscess, Abdominal colic, Neoplasm of the liver, Sclerosing cholangitis,... ORPHA:69663
Cholestasis, Progressive Familial Intrahepatic, 11
Elevated circulating alanine aminotransferase concentration, Pruritus, Elevated circulating aspar... OMIM:619874
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Satoyoshi Syndrome
Sparse or absent eyelashes, Abnormality of the ovary, Alopecia universalis, Abnormality of the ut... ORPHA:3130
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Usher Syndrome, Type Ie
Rod-cone dystrophy, Congenital sensorineural hearing impairment, Vestibular areflexia OMIM:602097
Congenital Disorder Of Glycosylation, Type Iir
Decreased circulating antibody level, Jaundice, Elevated hepatic transaminase, Decreased proporti... OMIM:301045
Werner Syndrome
Premature graying of hair, Abnormal testis morphology, Atherosclerosis, Skin ulcer, Melanoma, Whi... ORPHA:902
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cirrhosis, Chronic diarrhea, Weight loss, Nausea and vomiting, Jaundice, Abdomina... ORPHA:65682
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Hepatic fibrosis, Esophageal stricture, Premature graying of hair, Short stature, Ure... OMIM:613989
Kennedy Disease
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus ORPHA:481
Testicular Regression Syndrome
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... ORPHA:983
Sea-Blue Histiocyte Disease
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Sea-blue histiocytosis, E... OMIM:269600
Trichothiodystrophy 1, Photosensitive
Flexion contracture, Tiger tail banding, Keratoconjunctivitis sicca, Intestinal obstruction, Eryt... OMIM:601675
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Bifid uvula, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly... OMIM:614921
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Agammaglobulinemia 6, Autosomal Recessive
Conjunctivitis, Decreased circulating total IgM, Recurrent bronchitis, Chronic sinusitis, Recurre... OMIM:612692
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot OMIM:125520
Immunodeficiency, Common Variable, 2
Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media... OMIM:240500
Primary Myelofibrosis
Anemia, Cachexia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis,... ORPHA:824
Hypotrichosis Simplex Of The Scalp
Abnormal eyebrow morphology, Sparse scalp hair, Abnormality of the pubic hair, Allergic rhinitis,... ORPHA:90368
Griscelli Syndrome
Leukopenia, Abnormal eyebrow morphology, Premature graying of hair, Short stature, Hepatitis, Jau... ORPHA:381
Congenital Bile Acid Synthesis Defect Type 2
Hepatic failure, Jaundice, Extramedullary hematopoiesis, Elevated hepatic transaminase, Hepatic s... ORPHA:79303
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Knee flexion contracture, Pyoderma gangrenosum, Arthritis, Elbow flexion contracture, Pancytopeni... OMIM:604416
Gonadoblastoma
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... ORPHA:206484
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F ORPHA:46532
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Normosmic Congenital Hypogonadotropic Hypogonadism
Female hypogonadism, Sparse body hair, Impotence, Secondary amenorrhea, Decreased testicular size... ORPHA:432
Transaldolase Deficiency
Synophrys, Hepatosplenomegaly, Hepatomegaly, Decreased liver function, Thrombocytopenia, Splenome... OMIM:606003
Beta-Thalassemia
Anemia, Hepatitis, Skin ulcer, Pallor, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis,... ORPHA:848
Chronic Mucocutaneous Candidiasis
Hepatitis, Skin rash, Feeding difficulties in infancy, Skin ulcer, Abnormality of the nail, Papul... ORPHA:1334
Dominant Beta-Thalassemia
Diarrhea, Skin ulcer, Hepatocellular carcinoma, Hypoplasia of the musculature, Hepatosplenomegaly... ORPHA:231226
Juvenile Hyaline Fibromatosis
Abnormality of the gastrointestinal tract, Skin ulcer, Gingival fibromatosis, Papule, Progressive... ORPHA:2028
Cranioectodermal Dysplasia 2
Biliary cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Sparse eyelashes, Cleft palate, S... OMIM:613610
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Immunodeficiency, Common Variable, 1
Conjunctivitis, Decreased circulating total IgM, Bronchiectasis, Recurrent bronchitis, Recurrent ... OMIM:607594
Diethylstilbestrol Syndrome
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... ORPHA:1916
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Cirrhosis, Hemolytic anemia, Chronic oral candidiasis, Diarrhea, Hepati... OMIM:308230
Agammaglobulinemia 3, Autosomal Recessive
Absent isohemagglutinin level, Recurrent bronchitis, Recurrent otitis media, Recurrent bacterial ... OMIM:613501
Solitary Rectal Ulcer Syndrome
Episodic abdominal pain, Anemia, Intermittent diarrhea, Bloody diarrhea, Rectal prolapse, Decreas... ORPHA:209964
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Jaundi... ORPHA:822
Autosomal Recessive Polycystic Kidney Disease
Fat malabsorption, Cholangiocarcinoma, Hepatoblastoma, Hepatosplenomegaly, Thrombocytopenia, Feed... ORPHA:731
Immunodeficiency By Defective Expression Of Mhc Class Ii
Rhinitis, T lymphocytopenia, Diarrhea, Neutropenia in presence of anti-neutropil antibodies, Scle... ORPHA:572
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Decreased fertility, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal... ORPHA:2235
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Lymphoma, Bronchiectasis, Allergic rhinitis, Liver abscess, Skin rash, Arthritis, Rheumatoid arth... ORPHA:183675
Junctional Epidermolysis Bullosa With Pyloric Atresia
Renal duplication, Renal dysplasia, Hematuria, Urethral stricture, Urinary bladder inflammation, ... ORPHA:79403
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Periportal fibrosis, Hepatic lobular inflammation, Hepatocel... ORPHA:101330
Frasier Syndrome
Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased circulating gonad... ORPHA:347
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Reduced sperm motility, Abnormal sperm head morphology, A... ORPHA:320391
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Reduced natural killer cell activity, ... OMIM:300400
Cryoglobulinemic Vasculitis
Abnormality of the liver, Petechiae, Arthritis, Abdominal pain, Skin ulcer, Purpura, Keratoconjun... ORPHA:91138
Infantile Myofibromatosis
Fibroma, Benign neoplasm of the central nervous system, Sarcoma, Neoplasm of the pancreas, Skin u... ORPHA:2591
Beta-Thalassemia Intermedia
Cholelithiasis, Cirrhosis, Abnormality of the liver, Hypogonadism, Increased HbA2 hemoglobin, Jau... ORPHA:231222
Immunodeficiency 40
Elevated circulating alanine aminotransferase concentration, Intermittent diarrhea, Rectal fistul... OMIM:616433
Mantle Cell Lymphoma
Weight loss, Abnormality of the gastrointestinal tract, Anorexia, Lymphadenopathy, Splenomegaly, ... ORPHA:52416
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Pancreatic cysts, Thin skin, Anemia, Sparse scalp hair, Hepatic fibrosis, High palate, Cutis laxa... OMIM:266920
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Hypertrichosis, Eczema OMIM:176090
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Thickened Achilles tendon, Palmoplantar scaling skin, Scaling skin, Nonepiderm... ORPHA:530838
Polycystic Ovary Syndrome 1
Hirsutism, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Sinusitis, Otitis media, Pneumonia, Decreased circulating IgG level OMIM:312863
Hereditary Xanthinuria
Uric acid nephrolithiasis, Crystalluria, Recurrent urinary tract infections, Acute kidney injury,... ORPHA:3467
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Abnormal va... OMIM:194072
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility ORPHA:3000
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact... ORPHA:66628
46,Xy Sex Reversal 7
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... OMIM:233420
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Erythroderma, T lymphocytopenia, Chronic diarrhea, Lymphocytosis, Decreased proportion ... ORPHA:169154
Triokinase And Fmn Cyclase Deficiency Syndrome
Elevated circulating alanine aminotransferase concentration, Dilated cardiomyopathy, Hepatic stea... OMIM:618805
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Splenomegaly, Hepatomegaly OMIM:606445
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Short stature, Eczema, Failure to thrive, Lymphadenopathy, Chronic diarr... OMIM:607271
Chronic Granulomatous Disease
Liver abscess, Malabsorption, Inflammatory abnormality of the eye, Skin ulcer, Pyloric stenosis, ... ORPHA:379
Retinitis Pigmentosa 89
Hepatic fibrosis, Bicuspid aortic valve, Intrahepatic bile duct dilatation, Hepatosplenomegaly, M... OMIM:618955
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Anemia, Chronic diarrhea, Villous atrophy, Hepatitis, Coombs-positive hemolytic anemia,... OMIM:304790
Proximal Renal Tubular Acidosis
Aminoaciduria, Hyperuricosuria, Short stature, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting... ORPHA:47159
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Giant Cell Arteritis
Sudden cardiac death, Alopecia, Hepatic failure, Abdominal aortic aneurysm, Cerebral ischemia, We... ORPHA:397
Chilblain Lupus
Malar rash, Chronic myelomonocytic leukemia, Inflammatory abnormality of the skin, Discoid lupus ... ORPHA:90280
Dubowitz Syndrome
Acute lymphoblastic leukemia, Eczema, Neoplasm, Chronic diarrhea, Thrombocytopenia, Postnatal gro... ORPHA:235
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatic fibrosis, Short stature, Elevated hepatic transaminase, Myopathy... OMIM:232400
Gallbladder Disease 1
Hepatic fibrosis, Cholesterol gallstones, Jaundice, Elevated hepatic transaminase, Portal inflamm... OMIM:600803
Idiopathic Achalasia
Bronchitis, Decreased prealbumin level, Recurrent aspiration pneumonia, Cough, Wheezing ORPHA:930
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Skeletal muscle atrophy, Hepatomega... OMIM:616719
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... ORPHA:179494
Refractory Celiac Disease
Elevated alkaline phosphatase of bone origin, Lymphoma, Jejunitis, Villous atrophy, Inflammatory ... ORPHA:398063
Donohue Syndrome
Hepatic fibrosis, Precocious puberty, Intrauterine growth retardation, Long penis, Abdominal dist... OMIM:246200
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated... OMIM:619658
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Chronic diarrhea, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Ab... OMIM:602450
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Bronchiectasis, Disseminated molluscum contagiosum, Asthma, Seve... OMIM:617638
Beta-Thalassemia Major
Diarrhea, Skin ulcer, Hepatocellular carcinoma, Hypoplasia of the musculature, Hepatosplenomegaly... ORPHA:231214
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Hirsutism, Menorrhagia, Oligomenorrhea, Abnormality... ORPHA:2795
Toxic Epidermal Necrolysis
Sudden cardiac death, Skin ulcer, Elevated hepatic transaminase, Dysphagia, Thrombocytopenia, Abn... ORPHA:537
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Aa Amyloidosis
Hypotension, Vomiting, Chronic diarrhea, Malabsorption, Enlarged kidney, Abdominal pain, Malnutri... ORPHA:85445
Hemochromatosis, Type 1
Alopecia, Cirrhosis, Telangiectasia, Impotence, Abdominal pain, Hepatocellular carcinoma, Elevate... OMIM:235200
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Uric acid nephrolithiasis, Sensorineural hearing impairment, Short stature, Gout, H... OMIM:300661
Kerion Celsi
Alopecia, Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Lymphadeno... ORPHA:499
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Urinary incontinence, Resting tremor, Macular degeneration, Abnormal vestibulo-ocular reflex, Int... ORPHA:247234
Erythrokeratodermia Variabilis
Alopecia, Abnormal testis morphology, Weight loss, Short stature, Skin rash, Abnormality of the n... ORPHA:317
Periodic Fever, Familial, Autosomal Dominant
Conjunctivitis, Oligoarthritis, Vomiting, Chronic diarrhea, Skin rash, Chronic constipation, Abdo... OMIM:142680
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Hepatosplenomegaly, Eosinophilia, Chronic diarrhea, Colitis, Pneu... ORPHA:911
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Crusting erythematous dermatitis, Cachexia, Elevated hepatic transaminase, Eczema, Myositis, Abno... ORPHA:37042
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Decreased liver function, In... OMIM:617093
Peutz-Jeghers Syndrome
Breast carcinoma, Ovarian cyst, Bloody diarrhea, Rectal prolapse, Intussusception, Gastrointestin... OMIM:175200
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Bronchiectasis, Eosinophilic infiltration of the esophagus, Asth... OMIM:243700
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Intermittent generalized erythematous papular rash, Exercise-induced rhabdomyolysis, Annular cuta... ORPHA:284426
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Ventricular septal defect, Joint contracture of the hand, Pericardial effusion, Th... OMIM:235510
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Limb-girdle muscle weakness, Diarrhea, Hepatocellular carcinoma, Elevated hepatic transaminase, H... ORPHA:79240
Cholestasis, Progressive Familial Intrahepatic, 10
Elevated circulating alanine aminotransferase concentration, Short stature, Jaundice, Acholic sto... OMIM:619868
Leprechaunism
Decreased body weight, Enlarged kidney, Overgrowth of external genitalia, Labial hypertrophy, Lon... ORPHA:508
Acrodermatitis Enteropathica
Skin ulcer, Abnormality of the nail, Chronic diarrhea, Furrowed tongue, Alopecia, Abnormal eyebro... ORPHA:37
Mirage Syndrome
Achalasia, Decreased body weight, Myelodysplasia, Chronic diarrhea, Thrombocytopenia, Aspiration ... OMIM:617053
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media OMIM:616022
Trichohepatoenteric Syndrome 1
Bifid uvula, Hepatomegaly, Sparse hair, Splenomegaly, Hepatic fibrosis, Ventricular septal defect... OMIM:222470
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Tubulointerstitial nephritis, Microvesicular hepatic steatosis, Periportal fibrosis, Rhabdomyolys... OMIM:124000
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Perineal hypospadias, Bifid s... ORPHA:753
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... OMIM:619949
Adams-Oliver Syndrome 6
Hypoplastic toenails, Hepatic fibrosis, Ventricular septal defect, Truncus arteriosus, Aplasia cu... OMIM:616589
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent aphthous stomat... ORPHA:275
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis ORPHA:242
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Pericarditis, Renal interstitia... ORPHA:449395
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Elevated circulating alanine aminotransferase concentration, Howell-Jolly bodies, Ventricular sep... OMIM:613759
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Diarrhea... OMIM:613812
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Cholestasis, Progressive Familial Intrahepatic, 12
Elevated circulating alanine aminotransferase concentration, Short stature, Jaundice, Elevated ci... OMIM:620010
Combined Immunodeficiency Due To Dock8 Deficiency
Onychomycosis, Recurrent bacterial skin infections, Atopic dermatitis, Asthma, Recurrent sinusiti... ORPHA:217390
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Sparse eyebrow, Cutis laxa, Hypogonadism, Absent axillary hair, Scaling skin, Alopecia of scalp, ... ORPHA:2269
Deafness, Autosomal Recessive 103
Vestibular areflexia, Sensorineural hearing impairment, Abnormal vestibular function OMIM:616042
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Decreased response to growth hormone ... OMIM:307200
Mogs-Cdg
Polyhydramnios, Hypothyroidism, Hypoventilation, Decreased circulating total IgM, Pulmonary edema... ORPHA:79330
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young OMIM:142330
Aicardi-Goutieres Syndrome 9
Pericardial effusion, Elevated hepatic transaminase, Hepatosplenomegaly, Pericarditis, Hepatic st... OMIM:619487
Bardet-Biedl Syndrome 10
Rod-cone dystrophy, Hypogonadism, Retinal dystrophy, Renal cyst, Renal insufficiency, Obesity OMIM:615987
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... ORPHA:64743
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastroesophageal reflux, Poor suck, Weight loss, Nausea and vomiting, Poor appetite, Esophageal n... ORPHA:2198
Xp22.3 Microdeletion Syndrome
Decreased fertility, Polycystic ovaries, Hypogonadotropic hypogonadism, Secondary amenorrhea ORPHA:1643
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, G... ORPHA:3337
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Increased circulating interleukin 6 concentration, Ab... ORPHA:178320
Shigellosis
Bloody diarrhea, Tenesmus, Pneumonia, Thrombocytopenia, Acute colitis, Splenic abscess, Arthritis... ORPHA:810
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Rare Cutaneous Lupus Erythematosus
Intermittent generalized erythematous papular rash, Leukonychia, Crusting erythematous dermatitis... ORPHA:535
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... ORPHA:79301
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Complement Component 4B Deficiency
Chronic active hepatitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Chron... OMIM:614379
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Pulmonary edema, Pleural effusion, Increas... ORPHA:64739
Kid Syndrome
Acne inversa, Keratoconjunctivitis sicca, Punctate keratitis, Neoplasm of the skin, Scaling skin,... ORPHA:477
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Conjunctivitis, Recurrent opportunistic infections, Panhypogammaglobulinemia, Purulent rhinitis, ... OMIM:601457
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly, Myeloproliferative disorder, Eosi... OMIM:607685
Alg1-Cdg
Abnormality of the gastrointestinal tract, Abnormal heart morphology, Chronic diarrhea, Decreased... ORPHA:79327
Bardet-Biedl Syndrome 19
Patent ductus arteriosus, Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Hepatic ... OMIM:615996
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin ulcer, Elevated hepatic transaminase, Eczema, Recurrent sinusitis, Hepatosplenomegaly, Bone ... OMIM:615688
Cutis Laxa, Autosomal Recessive, Type Ic
Patent foramen ovale, Gastroesophageal reflux, Hypoplasia of the thymus, Cutis laxa, Morgagni dia... OMIM:613177
Congenital Tufting Enteropathy
Elevated fecal osmolality, Vomiting, Cholestatic liver disease, Abnormal large intestinal mucosa ... ORPHA:92050
Free Sialic Acid Storage Disease
Aplasia/Hypoplasia of the abdominal wall musculature, Skin ulcer, Hepatomegaly, Ascites, Failure ... ORPHA:834
Mu-Heavy Chain Disease
Anemia, Weight loss, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy... ORPHA:100024
Sandhoff Disease
Failure to thrive, Abnormal glycosphingolipid metabolism, Hepatomegaly, Splenomegaly, Cherry red ... ORPHA:796
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Elevated hepatic transaminase, Hepatic steatosis, Hirsutism, Skeletal muscle... OMIM:613327
Wilson Disease
Cirrhosis, Anemia, Pruritus, Weight loss, Hepatitis, Arthritis, Jaundice, Elevated hepatic transa... ORPHA:905
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Respiratory distres... OMIM:617300
Schnitzler Syndrome
Anemia, Arthritis, Skin rash, Lymphadenopathy, Increased circulating IgM level, Hepatomegaly, Leu... ORPHA:37748
Atypical Werner Syndrome
Decreased body weight, Premature graying of hair, Calf muscle hypertrophy, Abnormal testis morpho... ORPHA:79474
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Annular cutaneous lesion, Squamous cell carcinoma, Skin ulc... ORPHA:542592
Bacterial Toxic-Shock Syndrome
Hypotension, Septic arthritis, Diarrhea, Fasciitis, Myositis, Scaling skin, Glomerulonephritis, S... ORPHA:36234
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Anemia, Enterocolitis, Villous atrophy, Short stature, Skin ra... OMIM:616050
Verrucous Hemangioma
Papilloma, Hyperkeratotic papule, Inflammatory abnormality of the skin, Hemangioma, Skin plaque, ... ORPHA:464318
Cystic Fibrosis
Meconium ileus, Biliary cirrhosis, Cirrhosis, Diarrhea, Bronchiectasis, Exocrine pancreatic insuf... OMIM:219700
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Generalized limb muscle atrophy, Hepatosplenomegaly, Distal lower limb muscle w... ORPHA:466794
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss, Lymphadenopathy, Hepatomegaly, Pruritus, Splenomegaly ORPHA:86893
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Recurrent bacterial infections... OMIM:606843
Friedreich Ataxia
Urinary bladder sphincter dysfunction, Impaired visually enhanced vestibulo-ocular reflex, Optic ... ORPHA:95
Juvenile Polyposis Of Infancy
Diarrhea, Cachexia, Protein-losing enteropathy, Intussusception, Abdominal pain, Atrial septal de... ORPHA:79076
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis, Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
American Trypanosomiasis
Localized skin lesion, Achalasia, Diarrhea, Skin rash, Abdominal pain, Aganglionic megacolon, Con... ORPHA:3386
Myoectodermal Gonadal Dysgenesis Syndrome
Sparse eyebrow, Diastasis recti, Short stature, Frontal upsweep of hair, Small for gestational ag... OMIM:618419
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Recurrent sinusitis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... OMIM:615559
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Short stature, Hepatitis, Hypersple... OMIM:613385
Reynolds Syndrome
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Cirrhosis, Mucosal telangiectasiae, ... ORPHA:779
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Trichohepatoneurodevelopmental Syndrome
Recurrent pancreatitis, Decreased body weight, Synophrys, Hepatomegaly, Chronic diarrhea, Decreas... OMIM:618268
Cog7-Cdg
Diarrhea, Small for gestational age, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly,... ORPHA:79333
Craniofaciofrontodigital Syndrome
Palmoplantar cutis laxa, Pericardial effusion, Thick hair, Persistent fetal circulation, Ventricu... ORPHA:363705
Galactose Epimerase Deficiency
Weight loss, Jaundice, Growth delay, Hepatomegaly, Splenomegaly ORPHA:79238
Lissencephaly Syndrome, Norman-Roberts Type
Patent foramen ovale, Atrial septal defect, Feeding difficulties, Dysphagia, Hypoplastic spleen, ... ORPHA:89844
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Intermittent diarrhea, Chronic diarrhea, We... ORPHA:330001
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Ficolin 3 Deficiency
Necrotizing enterocolitis, Recurrent lower respiratory tract infections, Recurrent abscess format... OMIM:613860
Ovarian Fibrothecoma
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... ORPHA:314478
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cirrhosis, Granulomatous cholangitis, Sclerosing cholangitis, Interface hepatitis, Elevated hepat... ORPHA:562639
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Pancytopenia, Colitis, Dec... OMIM:618394
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Bloody diarrhea, Hypoplasia of the thymus, Intestinal obstruction, Psoriasiform dermatitis, Intes... OMIM:243150
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... ORPHA:2975
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Feeding difficulties in infancy, Elevated hepatic transaminase, Redundant neck skin, Abnormal lef... OMIM:301056
Microscopic Polyangiitis
Diarrhea, Skin ulcer, Pericarditis, Skin rash, Arthritis, Abdominal pain, Uveitis, Erythema, Arrh... ORPHA:727
Hurler Syndrome
Camptodactyly of finger, Cardiomyopathy, Rhinitis, Chronic diarrhea, Short stature, Abnormal hear... ORPHA:93473
Dracunculiasis
Flexion contracture, Diarrhea, Nausea and vomiting, Skin rash, Arthritis, Skin ulcer, Recurrent c... ORPHA:231
Mpi-Cdg
Hepatic fibrosis, Vomiting, Diarrhea, Abnormal circulating enzyme concentration or activity, Fail... ORPHA:79319
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Anemia, Skin rash, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thr... OMIM:603552
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent candida infections, Chronic oral candidiasis, Recurrent herpes, Hepatitis, Increased ci... ORPHA:169160
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Pancyt... OMIM:619824
Bardet-Biedl Syndrome 5
Rod-cone dystrophy, Hypogonadism, External genital hypoplasia, Macular dystrophy, Obesity, Microp... OMIM:615983
Polyarteritis Nodosa
Weight loss, Abnormality of the gastrointestinal tract, Abdominal pain, Raynaud phenomenon, Skin ... ORPHA:767
Epidermolysis Bullosa Acquisita
Milia, Abdominal pain, Inflammation of the large intestine, Abnormal hair morphology, Nail dystro... ORPHA:46487
Molybdenum Cofactor Deficiency, Complementation Group A
Increased urinary taurine, Increased urinary thiosulfate, Absent urinary urothione, Xanthine neph... OMIM:252150
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Increased hepatic glycogen content, Hepatomegaly, Failure to thriv... OMIM:232700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Recurrent sinusitis, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Colitis, Thro... OMIM:613101
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell... OMIM:601820
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Recurrent otitis media, Lymphopenia, Autoimmune thrombocytopenia, Au... ORPHA:444463
Dpm1-Cdg
Knee flexion contracture, Hepatic fibrosis, Gastrostomy tube feeding in infancy, Diarrhea, Muscul... ORPHA:79322
Visceral Myopathy 2
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Necr... OMIM:619350
Immunodeficiency 97 With Autoinflammation
Diarrhea, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomeg... OMIM:619802
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Bro... OMIM:608957
Systemic Capillary Leak Syndrome
Pedal edema, Pulmonary edema, Pleural effusion, Pericarditis, Cardiorespiratory arrest, Rhinorrhe... ORPHA:188
Carcinoma Of Esophagus
Gastroesophageal reflux, Weight loss, Esophageal neoplasm, Lymphadenopathy, Abnormal intestine mo... ORPHA:70482
Immunodeficiency 69
Anemia, Skin rash, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Thrombocytosis, Leukocyto... OMIM:618963
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Short stature, Foam cells with lamellar inclusion bodies, Bone-ma... OMIM:607616
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Coronary artery atherosclerosis, Pancreatitis ORPHA:79084
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Recurrent opportunist... ORPHA:276
Farber Disease
Hepatic fibrosis, Anemia, Hepatic failure, Flexion contracture, Short stature, Arthritis, Elevate... ORPHA:333
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Sensorineural hearing impairment, Intention tremor, Optic atrophy, Vestibular areflexia ORPHA:504476
Rat-Bite Fever
Septic arthritis, Diarrhea, Pericarditis, Scaling skin, Parotitis, Abdominal aseptic abscess, End... ORPHA:31205
Adams-Oliver Syndrome
Pulmonary arterial hypertension, Alopecia, Leukopenia, Cirrhosis, Pulmonary artery atresia, Absen... ORPHA:974
Immunodeficiency 52
Bronchiectasis, Decreased circulating antibody level, Increased proportion of gamma-delta T cells... OMIM:617514
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Perifolliculitis, Crusting erythematous dermatitis, Inflammatory abnormali... ORPHA:79147
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Maculopapular exanthema, Erythroderma, Infectious encephalitis, Petechiae, Skin rash, Jau... ORPHA:540
Bardet-Biedl Syndrome 11
Retinopathy, Obesity, Hypogonadism OMIM:615988
Secondary Short Bowel Syndrome
Vomiting, Enterocolitis, Diarrhea, Villous atrophy, Small intestinal dysmotility, Malabsorption, ... ORPHA:95427
Aromatase Deficiency
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:613546
Syndromic X-Linked Intellectual Disability 7
Hypogonadism, Hypoplasia of penis, Cryptorchidism, Obesity, Micropenis ORPHA:85274
African Iron Overload
Hepatic fibrosis, Hepatitis, Hepatocellular carcinoma, Congestive heart failure, Hepatic bridging... ORPHA:139507
Sandhoff Disease
Episodic abdominal pain, Impotence, Reduced beta-hexosaminidase activity, Macroglossia, Hepatospl... OMIM:268800
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... OMIM:228300
Sézary Syndrome
Lymphoma, Alopecia, Cutaneous T-cell lymphoma, Neoplasm of the skin, Nail dystrophy, Lymphadenopa... ORPHA:3162
Lysosomal Acid Lipase Deficiency
Hypotension, Diarrhea, Cachexia, Elevated hepatic transaminase, Hepatosplenomegaly, Bone-marrow f... ORPHA:275761
Kaposi Sarcoma
Abnormality of the liver, Diarrhea, Neoplasm by anatomical site, Abnormality of the gastrointesti... ORPHA:33276
Congenital Disorder Of Glycosylation, Type Ib
Lymphangiectasis, Hepatic fibrosis, Hepatic failure, Cirrhosis, Diarrhea, Vomiting, Villous atrop... OMIM:602579
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... OMIM:618086
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Abnormal circulating A-type atrial natriuretic peptide concen... ORPHA:57777
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly OMIM:617068
Neutral Lipid Storage Disease With Myopathy
Short stature, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Increased muscle l... OMIM:610717
Bathing Suit Ichthyosis
Alopecia, Multiple joint contractures, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Sc... ORPHA:100976
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Leukemia, Increased circulating antibody level, Lymphocytosis, Pancytopenia, Au... OMIM:614470
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Dermal translucency, Elevated hepatic transaminase, Hepatosple... ORPHA:541423
Wiskott-Aldrich Syndrome
Sudden cardiac death, Hypoplasia of the thymus, Skin ulcer, Eczema, Neoplasm, Chronic diarrhea, P... ORPHA:906
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic fibrosis, Hepatic failure, Ventricular septal defect, Short stature, Cholestasis, Hepatom... OMIM:615630
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Chilblains, Hepatomegaly, Intrauterine growth retardation, Thrombocytopenia, Sp... OMIM:615010
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism ORPHA:2229
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Calf muscle hypertrophy, Infertility, Hypertension, Hepatic steatosis, Polycyst... ORPHA:280356
Vestibulocochlear Dysfunction, Progressive
Progressive hearing impairment, Tinnitus, Vestibular areflexia OMIM:193005
Aicardi-Goutieres Syndrome 5
Flexion contracture, Feeding difficulties in infancy, Chilblains, Scaling skin, Thrombocytopenia,... OMIM:612952
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent EBV viremia, Severe varicella zoster infection, Decreased T cell activation, Bronchiec... OMIM:300853
Primary Sclerosing Cholangitis
Spider hemangioma, Elevated alkaline phosphatase of hepatic origin, Hepatocellular carcinoma, Cho... ORPHA:171
Mixed Connective Tissue Disease
Pulmonary arterial hypertension, Alopecia, Leukopenia, Gastroesophageal reflux, Hemolytic anemia,... ORPHA:809
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Bronchiectasis, Impaired Ig class switch recombination, Recurrent bacterial infect... OMIM:608184
Immunodeficiency 47
Leukopenia, Hepatic fibrosis, Cirrhosis, Elevated circulating alanine aminotransferase concentrat... OMIM:300972
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Ulcerative colitis, Leukocytosis, Bloody diarrhea OMIM:619398
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Congenital Toxoplasmosis
Anemia, Diarrhea, Ascites, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Macule, Hepa... ORPHA:858
Acrogeria
Thin skin, Short stature, Skin ulcer, Fine hair, Aplasia/Hypoplasia of the skin, Telangiectasia o... ORPHA:2500
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Impotence, Small pituitary gland, Increased circulating gonadotropin level, Primary amenorrhea, P... ORPHA:2232
Immunodeficiency 42
Recurrent cutaneous fungal infections, Recurrent aphthous stomatitis, Hypoplasia of the thymus, C... OMIM:616622
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Flexion contracture, Vomiting, Diarrhea, Villous atrophy, Pericardial effusion,... OMIM:212065
Ollier Disease
Anemia, Precocious puberty, Chondrosarcoma, Sarcoma, Multiple enchondromatosis, Skin ulcer, Visce... ORPHA:296
Odonto-Onycho Dysplasia-Alopecia Syndrome
Sparse body hair, Alopecia, Hypoplastic toenails, Sparse eyebrow, Abnormal fingernail morphology,... ORPHA:2722
Immunodeficiency 59 And Hypoglycemia
High anterior hairline, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Chronic diarr... OMIM:233600
Systemic Sclerosis
Flexion contracture, Abnormal large intestine morphology, Abnormal stomach morphology, Pericardit... ORPHA:90291
Ciliary Dyskinesia, Primary, 9
Decreased nasal nitric oxide, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Chroni... OMIM:612444
Hepatorenocardiac Degenerative Fibrosis
Cirrhosis, Enlarged kidney, Jaundice, Hypersplenism, Hepatocellular carcinoma, Elevated hepatic t... OMIM:619902
Pneumocystosis
Respiratory insufficiency, Respiratory failure, Exertional dyspnea, Chronic oral candidiasis, Inc... ORPHA:723
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Arthritis, Skin ulcer, Myositis, Pustule, Lymphadenopathy, Increased inflammator... ORPHA:69126
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Sensorineural hearing impairment, Vestibular areflexia OMIM:609006
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Chronic bronchitis, Bronchiectasis, Elevated hepatic transamin... OMIM:613490
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Leukemia, Erythroid hyperplasia, Hepatomegaly, Thrombocytopenia, ... OMIM:133180
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Anemia, Bloody diarrhea, Diarrhea, Weight loss, Liver abscess, A... ORPHA:67
Immunodeficiency, Common Variable, 12, With Autoimmunity
Alopecia, Atrophic gastritis, Pyoderma gangrenosum, Bronchiectasis, Recurrent sinusitis, Autoimmu... OMIM:616576
Primary Intestinal Lymphangiectasia
Anemia, Reduced proportion of CD4+ effector memory T cells, Chronic diarrhea, Increased stool alp... ORPHA:90362
Infantile Sialic Acid Storage Disease
High palate, Fair hair, Congestive heart failure, Failure to thrive, Hepatomegaly, Cardiomegaly, ... OMIM:269920
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Erythema, Colitis OMIM:219095
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Pancytopenia, He... OMIM:617872
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Chronic bronchitis, Decreased circulating total IgM, Decreased circulating antibody level, Pneumo... OMIM:614069
Fusariosis
Bronchiectasis, Fasciitis, Skin ulcer, Myositis, Panniculitis, Hematological neoplasm, Pneumonia,... ORPHA:228119
Bazex Syndrome
Anemia, Yellow nails, Lung adenocarcinoma, Parakeratosis, Scaling skin, Neoplasm, Hyperkeratosis,... ORPHA:166113
Thymic Aplasia
Hypothyroidism, Opportunistic infection, Recurrent Staphylococcus aureus infections, Meningitis, ... ORPHA:83471
Blue Rubber Bleb Nevus
Cerebellar medulloblastoma, Abnormality of the liver, Intussusception, Volvulus, Hemangioma, Inte... OMIM:112200
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Abdominal d... ORPHA:103907
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... OMIM:616278
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Bronchiectasis, Fasciitis, Recurrent sinusitis, Recurrent sta... ORPHA:331235
Infantile Systemic Hyalinosis
Camptodactyly of finger, Chronic diarrhea, Abnormality of the gastrointestinal tract, Aplasia/Hyp... ORPHA:2176
Progressive Familial Intrahepatic Cholestasis
Short stature, Jaundice, Failure to thrive, Cholestasis, Hepatomegaly, Splenomegaly ORPHA:172
Immunodeficiency 58
Bronchiectasis, Eczema, Scaling skin, Recurrent cutaneous abscess formation, Chronic diarrhea, Dy... OMIM:618131
Androgen Insensitivity, Partial
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... OMIM:312300
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 62
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:618459
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating alanine aminotransferase concentration, Left ventricular hypertrophy, Elevat... OMIM:619048
Hodgkin Lymphoma
Weight loss, Lymphadenopathy, Hepatomegaly, Pruritus, Splenomegaly ORPHA:98293
Pulmonary Capillary Hemangiomatosis