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
Hyperinsulinemia, Abnormality of retinal pigmentation, Obesity, Hypoplasia of penis, Type II diab... 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, Coiled sperm flagella, Infertility OMIM:618341
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Infertility OMIM:618152
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Infertility OMIM:618153
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Infertility OMIM:617576
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Infertility OMIM:617593
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Infertility OMIM:617592
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Failure to thrive, Increased circula... OMIM:615285
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Spermatogenic Failure 63
Oligospermia, Reduced progressive sperm motility, Male infertility, Decreased testicular size OMIM:619689
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Premature Ovarian Failure 5
Primary amenorrhea, Secondary amenorrhea, Reduced antral follicle count, Premature ovarian insuff... OMIM:611548
Isochromosomy Yp
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia, Decreased circulating antibody level OMIM:615206
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Abnormality of the nail, Hypopigmented skin patches, Lymphoma, Er... ORPHA:2584
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Isochromosomy Yq
Primary gonadal insufficiency, Varicocele, Azoospermia, Decreased testicular size, Male infertili... ORPHA:98798
Perrault Syndrome 6
Irregular menstruation, Primary amenorrhea, Streak ovary, Secondary amenorrhea, Premature ovarian... OMIM:617565
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Patent Ductus Arteriosus 2
Patent ductus arteriosus OMIM:617035
Patent Ductus Arteriosus 3
Patent ductus arteriosus OMIM:617039
Patent Ductus Arteriosus 1
Patent ductus arteriosus OMIM:607411
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Rectal prolapse, Anemia, Neoplasm of the lung, Renal cell carcinoma,... ORPHA:2869
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis OMIM:614480
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent Staphylococcus aureus infections, Recurrent otit... OMIM:613953
Immunodeficiency 48
Pneumonia, Splenomegaly, Hepatomegaly, Failure to thrive, Panhypogammaglobulinemia, Eczematoid de... OMIM:269840
Ring Chromosome Y Syndrome
Unilateral cryptorchidism, Abnormality of the female genitalia, Perineal hypospadias, Abnormality... ORPHA:261529
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... ORPHA:52901
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
X-Linked Agammaglobulinemia
Anemia, Hepatitis, Skin ulcer, Thrombocytopenia, Conjunctivitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Acute kidney injury, Stage 4 chronic kidney disease, Hyperuricemia, Crystalluria... ORPHA:411536
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea ORPHA:397685
Immunodeficiency 61
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Frequent Giardia lamb... OMIM:300310
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Splenomegaly, Hepatomegaly, Feeding difficulties, Chronic diarrhea, Thick hair, ... OMIM:613489
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated hepatic transaminase OMIM:615395
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary, Alopecia OMIM:241090
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Intrauterine growth retardation, Cholestasis, Elevated gamma-glutamyltransferase le... OMIM:614576
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Recurrent bronchitis,... OMIM:613501
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Acute kidney injury, Sensorineural hearing impairment, Hyperuricemia, Crystallur... ORPHA:411543
Spermatogenic Failure 4
Azoospermia OMIM:270960
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea OMIM:300604
Ovarian Dysgenesis 2
Primary amenorrhea, Delayed puberty, Gonadal hypoplasia, Hypergonadotropic hypogonadism, Abnormal... OMIM:300510
Endometriosis, Susceptibility To, 1
Endometriosis, Decreased fertility, Dysmenorrhea OMIM:131200
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Abdominal distention, Portal fibrosis, Dysphagia, Inflamm... ORPHA:3260
Caroli Disease
Biliary cirrhosis, Nausea, Cholestasis, Cholangitis, Elevated gamma-glutamyltransferase level, In... ORPHA:53035
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Recurrent ... OMIM:613494
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating IgA level,... OMIM:605258
Psoriasis 14, Pustular
Epidermal acanthosis, Leukocytosis, Cholangitis, Parakeratosis, Neutrophilia, Erythema, Nail dyst... OMIM:614204
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Absent pubic hair, Primary amenorrhea, Cryptorchidism, Micropenis,... OMIM:614841
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Epidermal acanthosis, Orthokeratosis, Cholangitis, Parakeratosis, Hepatomegaly, Jaundice, Thick h... OMIM:607626
Hereditary Renal Hypouricemia
Uric acid urolithiasis independent of gout, Abnormal renal tubule morphology, Hematuria, Hyperuri... ORPHA:94088
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Sensorineural hearing impairment, Hyperuricemia, Renal insufficiency, Gout, Uric... OMIM:300661
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Interstitial Cystitis
Urinary bladder inflammation, Functional abnormality of the bladder, Nocturia, Urinary urgency, A... ORPHA:37202
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Hyperuricemia, Hprt-Related
Nephrolithiasis, Hyperuricosuria, Podagra, Hyperuricemia, Renal insufficiency OMIM:300323
Immunodeficiency 76
Recurrent pneumonia, T lymphocytopenia, Colitis, Splenomegaly, Chronic diarrhea, B-cell lymphoma,... OMIM:619164
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Hepatomegaly, Eczema, Lymphadenopathy, Otitis media, ... OMIM:608971
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Cryptorchidism, Micro... OMIM:618841
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Abnormal morpholog... OMIM:193670
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Papilloma, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolapse, Abdomin... ORPHA:424019
Microsporidiosis
Nausea, Cholangitis, Prostatitis, Decreased proportion of CD4-positive helper T cells, Hepatitis,... ORPHA:2552
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Abnormality of male internal genita... OMIM:261550
Hardikar Syndrome
Hepatic failure, Cholestasis, Cholangitis, Bile duct proliferation, Hematemesis, Ventricular sept... OMIM:301068
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Recurrent skin infections, Splenomegaly, Hepatomegaly, Anemia, ... OMIM:612840
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Absence of puberta... OMIM:614840
Non-Syndromic Genetic Deafness
High-frequency hearing impairment, Abnormal speech discrimination, Low-frequency sensorineural he... ORPHA:87884
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Irregular menstruation, Cholestasis, Portal fibrosis, Diarrhea, Oligomenorrhea, Skeletal muscle a... ORPHA:370
Ethanolaminosis
Cardiomegaly OMIM:227150
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level, Amenorrhea OMIM:615724
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Immunodeficiency 35
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent fungal infections, Recu... OMIM:611521
Autoimmune Hepatitis
Spider hemangioma, Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Gastrointestinal hemorrhag... ORPHA:2137
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Patchy alopecia, T lymphocytopenia, Hepatosplenomegaly, Failure to thrive in infancy, Decreased p... OMIM:606367
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Increased circul... OMIM:618495
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Recurrent otitis media, Agammaglobulinemia,... OMIM:613500
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Failure to thrive in infancy, Skin rash OMIM:619175
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Trichohepatoenteric Syndrome 2
Brittle hair, Woolly hair, Intrauterine growth retardation, Small for gestational age, Colitis, S... OMIM:614602
Graft Versus Host Disease
Nausea, Gastrointestinal inflammation, Chronic hepatitis, Maculopapular exanthema, Inflammatory a... ORPHA:39812
Lysosomal Acid Lipase Deficiency
Low alkaline phosphatase, Increased circulating lactate dehydrogenase concentration, Hepatic fail... OMIM:278000
Lichen Planopilaris
Hypopigmented skin patches, Dermal atrophy, Papule, Onycholysis, Hyperkeratosis, Hepatitis, Abnor... ORPHA:525
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Abnormal vagina... ORPHA:168563
Isolated Agammaglobulinemia
Sinusitis, Abnormal lymphocyte morphology, Pneumonia, Inflammatory abnormality of the eye, Thromb... ORPHA:229717
Diffuse Cutaneous Mastocytosis
Abnormality of the liver, Gastrointestinal hemorrhage, Elevated total serum tryptase, Myeloprolif... ORPHA:79456
Lesch-Nyhan Syndrome
Dystonia, Nephrolithiasis, Opisthotonus, Hyperuricosuria, Podagra, Hyperuricemia, Short stature OMIM:300322
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections,... OMIM:608106
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Recurrent otitis media,... OMIM:613493
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress, Edema, Pulm... OMIM:267450
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration, Lymphadenitis, Pneumonia, Disseminated nontubercu... ORPHA:319552
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Pneumonia, Leukocytosis, Lymphoma, Aplasia/Hypoplas... ORPHA:39041
Syndromic Diarrhea
Hepatoblastoma, Brittle hair, Woolly hair, Ventricular septal defect, Villous atrophy, Hypoplasia... ORPHA:84064
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cholestasis, Erythema, Growth delay, Abnormal intestine morphology, Cirrhosis, Hepatic fibrosis, ... OMIM:609313
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Hypercalciuria, Protei... ORPHA:1652
Takayasu Arteritis
Abnormal aortic valve morphology, Anemia, Hypertension, Arterial stenosis, Skin ulcer, Increased ... ORPHA:3287
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Increased hepatic glycogen content, Hypertrophic cardiomyopathy, Hepatomegaly, G... ORPHA:369
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Portal hypertension, Hepatosplenomegaly, Failure to thrive in infancy, Cholangitis,... ORPHA:228426
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Infectious encephalitis, Colitis, Protracted diarrhea, Neutropenia,... OMIM:209920
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Microvesicular hepatic steatosis, Feeding difficulties in infancy, Brittle hair, Rhabdomyolysis, ... OMIM:124000
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anorexia, P... ORPHA:507
Prolidase Deficiency
Generalized hirsutism, Palmoplantar keratoderma, White forelock, Splenomegaly, Hepatomegaly, Eryt... ORPHA:742
Alpha-Heavy Chain Disease
Lymphoma, Ascites, Splenomegaly, Hepatomegaly, Abnormality of the small intestine, Growth delay, ... ORPHA:100025
Immunodeficiency 56
Recurrent otitis media, Recurrent pneumonia, Hepatic failure, Cholangitis, Chronic diarrhea, Bron... OMIM:615207
Hemochromatosis, Type 2B
Congestive heart failure, Splenomegaly, Hepatomegaly, Secondary amenorrhea, Anemia, Cardiomyopath... OMIM:613313
Perrault Syndrome 4
Primary amenorrhea, Decreased serum estradiol, Bicornuate uterus, Secondary amenorrhea, Premature... OMIM:615300
Mannose-Binding Lectin Deficiency
Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent meningococcal diseas... OMIM:614372
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Prolidase Deficiency
High palate, Recurrent pneumonia, Petechiae, Elevated circulating aspartate aminotransferase conc... OMIM:170100
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Recurrent otitis media, Uveitis, Lymphoma, Chronic neutropenia, Autoimmune hemolyti... OMIM:614700
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Anorexia, Chronic diarrhea, Jaundice, Nausea and vomiting, Abdominal pain, Elevat... ORPHA:65682
46,Xx Gonadal Dysgenesis
Primary amenorrhea, Aplasia/hypoplasia of the uterus, Decreased serum estradiol, Sparse pubic hai... ORPHA:243
Alveolar Echinococcosis
Eosinophilia, Biliary cirrhosis, Portal hypertension, Abnormal pericardium morphology, Pancreatic... ORPHA:284
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Respiratory tract infection, Atelectasis, S... ORPHA:70587
Reticular Dysgenesis
Leukopenia, Weight loss, Abnormality of neutrophils, Anemia, Failure to thrive, Chronic otitis me... ORPHA:33355
Acquired Hypertrichosis Lanuginosa
Generalized hirsutism, Hypopigmentation of hair, Weight loss, Neoplasm of the breast, Fine hair, ... ORPHA:2221
Dyskeratosis Congenita
Blepharitis, Hepatic failure, Lymphoma, Abnormal morphology of female internal genitalia, Anorect... ORPHA:1775
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:612692
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Hypoxemia... ORPHA:542323
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Nausea, Irregular menstruation, Cholestasis, Anemia, Portal fibrosis, Diarrhea, Oligomenorrhea, S... ORPHA:264580
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:613502
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Bifid uvula, Chronic hepatitis, Intrahepatic cholestasis, Hepatitis, Vent... OMIM:614921
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Kennedy Disease
Erectile dysfunction, Decreased fertility, Type II diabetes mellitus, Testicular atrophy ORPHA:481
Cronkhite-Canada Syndrome
Patchy alopecia, Hypoplastic toenails, Colon cancer, Aplasia/Hypoplasia of the eyebrow, Anemia, A... ORPHA:2930
Malakoplakia
Urinary bladder inflammation, Hematuria, Proteinuria, Dysuria, Orchitis, Prostate neoplasm, Neopl... ORPHA:556
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Trichothiodystrophy 1, Photosensitive
Brittle hair, Fine hair, Fragile nails, Flexion contracture, Pili torti, Small for gestational ag... OMIM:601675
Immunodeficiency 92
Sclerosing cholangitis, Pneumonia, Leukocytosis, Cholangitis, Thrombocytosis, Hepatomegaly, Chron... OMIM:619652
Caroli Syndrome
Hepatic failure, Cholangitis, Intrahepatic cholestasis, Hematemesis, Pancreatitis, Liver abscess,... ORPHA:480520
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Recurrent skin infections, Erythema nodosum, Hemophagocytosis, Colitis, Splenomegal... OMIM:300635
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Usher Syndrome, Type Ie
Vestibular areflexia, Rod-cone dystrophy, Congenital sensorineural hearing impairment OMIM:602097
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:607594
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Portal hypertension, Thrombocytosis, Splenomegaly... ORPHA:824
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Decreas... OMIM:618723
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency ORPHA:2278
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... OMIM:308220
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Proteinuria, Hydronephrosis, Prostatitis, Lymphocy... ORPHA:449395
Satoyoshi Syndrome
Amenorrhea, Abnormality of the ovary, Abnormal hair morphology, Abnormality of the uterus, Alopec... ORPHA:3130
Primary Fanconi Renotubular Syndrome
Glycosuria, Generalized aminoaciduria, Hypokalemia, Hyperuricosuria, Hypercalciuria, Bicarbonatur... ORPHA:3337
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Ascites, Decreased liver function, Hepatomegaly, Jaundice, Decreased circulati... OMIM:301045
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Primary amenorrhea, Delayed puberty, Cryptorc... ORPHA:432
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Perineal hypospadias, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia, ma... ORPHA:753
Cholestasis, Progressive Familial Intrahepatic, 8
Sclerosing cholangitis, Portal hypertension, Elevated circulating alanine aminotransferase concen... OMIM:619662
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent infections, Pneumonia, Decreased circulating antibody level, Chronic bronchitis OMIM:614069
Transaldolase Deficiency
Pancytopenia, Poor suck, Anemia, Ventricular septal defect, Thrombocytopenia, Clitoral hypertroph... OMIM:606003
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Sterile arthritis, Hepatosplenomegaly, Thrombocytosis, Colitis, ... OMIM:604416
Cranioectodermal Dysplasia 2
Biliary cirrhosis, Cholestasis, Cholangitis, Bile duct proliferation, Portal fibrosis, Hypertensi... OMIM:613610
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Griscelli Syndrome
Premature graying of hair, Leukopenia, Bone marrow hypocellularity, Hypopigmented skin patches, A... ORPHA:381
Beta-Thalassemia
Cholelithiasis, Microcytic anemia, Hypogonadotropic hypogonadism, Pallor, Hypertrophic cardiomyop... ORPHA:848
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Edema, Pulmonary edema OMIM:178400
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial... OMIM:240500
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Decreased testicular size, Abnormal sperm head morphology... ORPHA:320391
Hereditary Spherocytosis
Cholelithiasis, Maculopapular exanthema, Increased mean corpuscular hemoglobin concentration, Spl... ORPHA:822
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Dilated cardiomyopathy, Hepatic steatosis, Elevated circulating alanine aminot... OMIM:618805
Chronic Mucocutaneous Candidiasis
Abnormal endocardium morphology, Feeding difficulties in infancy, Abnormality of the nail, Broad ... ORPHA:1334
Bardet-Biedl Syndrome 6
Renal cyst, Obesity, External genital hypoplasia, Rod-cone dystrophy, Diabetes mellitus, Retinal ... OMIM:605231
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Failure to thrive in infancy, Chronic hepati... ORPHA:231226
Premature Ovarian Failure 7
Hypoplasia of the uterus, Absent pubic hair, Primary amenorrhea, Elevated circulating luteinizing... OMIM:612964
Juvenile Hyaline Fibromatosis
Abnormality of the gastrointestinal tract, Progressive flexion contractures, Skeletal muscle atro... ORPHA:2028
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Fa... ORPHA:79303
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomeruloneph... OMIM:304790
Diethylstilbestrol Syndrome
Epididymal cyst, Decreased fertility in females, Cryptorchidism, Micropenis, Abnormality of the u... ORPHA:1916
Proximal Renal Tubular Acidosis
Glycosuria, Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Hypercalciuria, Bica... ORPHA:47159
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Hepatosplenomegaly... ORPHA:169154
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Solitary Rectal Ulcer Syndrome
Hematochezia, Bloody diarrhea, Intermittent diarrhea, Decreased body weight, Stercoral ulcer, Blo... ORPHA:209964
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, High palate, Distal arthrogryposis, Decreased body weight, Woolly hair, Coarse ha... OMIM:618268
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Sinusitis, T lymphocytopenia, Sclerosing cholangitis, Abnormal CD4:CD8 ratio, Acute... ORPHA:572
Frasier Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Decreased serum estradiol, G... ORPHA:347
Porphyria Cutanea Tarda
Viral hepatitis, Hepatic steatosis, Hematological neoplasm, Periportal fibrosis, Cutaneous absces... ORPHA:101330
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Splenomegaly, Anorexia, B-cell lymphoma, Lymphadenopat... ORPHA:52416
Cryoglobulinemic Vasculitis
Viral hepatitis, Abnormality of the liver, Petechiae, Gastrointestinal hemorrhage, Splenomegaly, ... ORPHA:91138
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Primary am... ORPHA:2235
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Gastrointestinal hemorrhage, Cholestasis, Cholangitis, Elevated gamma-glutamyltra... ORPHA:731
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Sinusitis, Pneumonia, Recurrent bronchitis, Otitis media OMIM:312863
Gonadoblastoma
Abnormality of the ovary, Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal cal... ORPHA:206484
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, H... OMIM:308230
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Dry skin, Diffuse palmoplantar hyperkeratosis, Thickened Achilles tendon, Tendon thickening, Eryt... ORPHA:530838
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Hirsutism, Amenorrhea, Oligomenorrhea OMIM:184700
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent otitis media, Viral hepatitis, Recurrent pneumonia, Pneumonia, Cholangitis, Lymphoma, C... ORPHA:183675
Infantile Myofibromatosis
Sarcoma, Abnormal hair morphology, Fibroma, Gingival fibromatosis, Tracheoesophageal fistula, Ben... ORPHA:2591
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Primary amenorrhea, Gonadal dysgenesis, ... OMIM:233420
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Decreased ... OMIM:300400
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Gonadoblastoma, Abnormality of the uterus, Streak ova... OMIM:194072
Chronic Granulomatous Disease
Sinusitis, Inflammatory abnormality of the eye, Tracheoesophageal fistula, Splenomegaly, Hepatome... ORPHA:379
Aa Amyloidosis
Nausea, Enlarged kidney, Cholestasis, Hypotension, Hepatomegaly, Chronic diarrhea, Abdominal pain... ORPHA:85445
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urinary bladder inflammation, Recurrent skin infections, Hematuria, Renal duplication, Hydronephr... ORPHA:79403
Retinitis Pigmentosa 59
Intrauterine growth retardation, Cryptorchidism, Micropenis, Hepatomegaly, Failure to thrive, Ele... OMIM:613861
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Purulent rhinitis, Pneumonia, Recurrent opportunistic infections, Meningitis, Conjunctivitis, Pan... OMIM:601457
Porphyria Cutanea Tarda, Type I
Eczema, Hepatic fibrosis, Hypertrichosis OMIM:176090
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Lymphangiectasis, Hepatomegaly, Failure to thrive, Protein-losing enteropathy, V... OMIM:602579
Refractory Celiac Disease
Microcytic anemia, Normocytic anemia, Lymphoma, Elevated alkaline phosphatase of bone origin, Abn... ORPHA:398063
Donohue Syndrome
Intrauterine growth retardation, Cholestasis, Skeletal muscle atrophy, Nail dysplasia, Pancreatic... OMIM:246200
Periodic Fever, Familial, Autosomal Dominant
Erysipelas, Myositis, Gastrointestinal hemorrhage, Vomiting, Maculopapular exanthema, Hepatomegal... OMIM:142680
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:66628
Caspase 8 Deficiency
Pneumonia, Decreased CD4:CD8 ratio, Splenomegaly, Chronic diarrhea, Eczema, Short stature, Failur... OMIM:607271
Chilblain Lupus
Chronic myelomonocytic leukemia, Hyperkeratosis, Malar rash, Discoid lupus rash, Inflammatory abn... ORPHA:90280
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphoma, Autoimmune hemolytic anemia, Lymphocytosis, Chronic mucocutaneous candidiasis, Skin ras... ORPHA:911
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Cirrhosis, Splenomega... ORPHA:231222
Retinitis Pigmentosa 89
Hepatosplenomegaly, Esophageal varix, Bicuspid aortic valve, Intrahepatic bile duct dilatation, M... OMIM:618955
Cutaneous Mastocytoma
Telangiectasia macularis eruptiva perstans, Nausea, Elevated total serum tryptase, Maculopapular ... ORPHA:79455
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Acrodermatitis Enteropathica
Abnormality of the nail, Blepharitis, Ridged fingernail, Skin ulcer, Conjunctivitis, Glossitis, R... ORPHA:37
Dubowitz Syndrome
Hypoplastic toenails, Lymphoma, Cryptorchidism, Fine hair, Rectal prolapse, Anemia, Abnormal fing... ORPHA:235
Glycogen Storage Disease Iii
Hepatomegaly, Short stature, Myopathy, Cardiomyopathy, Elevated hepatic transaminase, Ventricular... OMIM:232400
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alanine aminotransferase concentration, Cholestasis, Hepatic bridging fibros... OMIM:619658
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Idiopathic Achalasia
Decreased prealbumin level, Cough, Recurrent aspiration pneumonia, Wheezing, Bronchitis ORPHA:930
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hepatic steatosis, Intrauterine growth retardation, Decreased liver function, Failure to thrive, ... OMIM:617093
Dyskeratosis Congenita, Autosomal Dominant 2
Premature graying of hair, Pancytopenia, Dilated cardiomyopathy, Leukopenia, Bone marrow hypocell... OMIM:613989
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Cardiomegaly, Amenorrhea, Arrhythmia, Azoospermia, Congestive hear... OMIM:235200
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent streptococcus pneu... ORPHA:70592
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Failure to thrive in infancy, Anisopoikilocy... ORPHA:231214
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Superficial dermal perivascular inflammatory infiltrate, Parakeratosis, Intermittent generalized ... ORPHA:284426
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Nausea, Irregular menstruation, Anemia, Diarrhea, Oligomenorrhea, Skeletal muscle atrophy, Short ... ORPHA:79240
Caroli Disease, Isolated
Portal hypertension, Cholangitis, Hepatomegaly, Esophageal varix, Liver abscess, Vomiting OMIM:600643
Erythrokeratodermia Variabilis
Generalized hirsutism, Abnormality of the nail, Weight loss, Abnormal hair morphology, Erythema, ... ORPHA:317
Fibrosclerosis, Multifocal
Sclerosing cholangitis, Abnormality of the liver, Retroperitoneal fibrosis, Thyroiditis, Camptoda... OMIM:228800
Kerion Celsi
Recurrent skin infections, Lymphadenopathy, Inflammatory abnormality of the skin, Alopecia, Recur... ORPHA:499
Mirage Syndrome
Cryptorchidism, Anemia, Intracranial hemorrhage, Lymphopenia, Thrombocytopenia, Decreased testicu... OMIM:617053
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased testi... ORPHA:179494
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency, Secondary amenorrhea OMIM:617175
Leprechaunism
Enlarged kidney, Decreased body weight, Skeletal muscle atrophy, Megarectum, Hypertrophic cardiom... ORPHA:508
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Increased circulati... OMIM:243700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nep... ORPHA:37042
Aicardi-Goutieres Syndrome 9
Anemia, Hypertension, Ascites, Left ventricular hypertrophy, Intrauterine growth retardation, Mic... OMIM:619487
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Intention tremor, Abnormal vestibulo-ocular reflex, Macular degeneration, Urinary... ORPHA:247234
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Erysipelas, Intestinal lymphangiectasia, Narrow palate, Joint contracture of the hand, Atrial sep... OMIM:235510
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent viral infections, Recurrent mycobacterial infections, ... ORPHA:275
Toxic Epidermal Necrolysis
Intestinal perforation, Gastrointestinal hemorrhage, Acantholysis, Anemia, Dysphagia, Pancreatiti... ORPHA:537
Lymphatic Malformation 7
Facial edema, Nonimmune hydrops fetalis, Lymphedema, Respiratory distress, Edema, Pericardial eff... OMIM:617300
Werner Syndrome
Slender build, Aplasia/Hypoplasia of the testes, Cutaneous melanoma, Meningioma, Telangiectasia o... ORPHA:902
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Acute pan... ORPHA:178320
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Increased hepatic glycogen content, Abnormal circulating insulin level... ORPHA:293964
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hepatic steatosis, Hepatic failure, Hepatomegaly, Failure to thrive, Hypogonadism OMIM:617872
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Congenital Tufting Enteropathy
Punctate keratitis, Abnormal large intestinal mucosa morphology, Weight loss, Abnormal small inte... ORPHA:92050
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Elevated circulating alanine aminotransferase concentration, Hepatic bridging fibrosis, Portal in... OMIM:613759
Congenital Bile Acid Synthesis Defect Type 1
Pruritus, Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive, Biliary tract abnormality, Ele... ORPHA:79301
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Recurrent viral infections, Asthma, Onychomycosis, Recurrent respiratory infections, R... ORPHA:217390
Fowler Urethral Sphincter Dysfunction Syndrome
Amenorrhea, Polycystic ovaries, Abnormality of the ovary, Menorrhagia, Hirsutism, Abnormality of ... ORPHA:2795
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Infectious encephalitis, Recurrent bacterial infect... OMIM:307200
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Peripheral edema, Pleural effusion, Ovarian cyst, Enlarged polycystic o... ORPHA:64739
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Micropenis, Cryptorchidism, Azoospermia, Decreased testicular size OMIM:614897
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Increased circulating antibody level, ... ORPHA:100024
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic failure, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616719
Oculotrichodysplasia
Sparse lateral eyebrow, Nail dysplasia, Sparse pubic hair, Trichodysplasia, Sparse eyelashes, Gen... OMIM:257960
Schnitzler Syndrome
Pruritus, Leukocytosis, Increased circulating IgM level, Splenomegaly, Hepatomegaly, Anemia, Vasc... ORPHA:37748
Deafness, Autosomal Recessive 103
Vestibular areflexia, Vestibular dysfunction, Sensorineural hearing impairment OMIM:616042
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Micropenis, Retinal dystrophy, Childhood-onset truncal obesity, Truncal obesity OMIM:610156
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Cardiomyopathy OMIM:615119
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Chronic diarrhea, Recurrent sinusitis, Chronic activ... OMIM:614379
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Feeding difficulties in infancy, Portal hypertension, Failure to thrive in infancy,... OMIM:613385
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Azoospermia, Splenomegaly, Growth delay, Hepatomegaly, Anemia, Decreased mean cor... OMIM:615234
Rare Cutaneous Lupus Erythematosus
Neutrophilic infiltration of the skin, Nail bed telangiectasia, Pterygium of nails, Maculopapular... ORPHA:535
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Pruritus, Splenomegaly, Hepatomegaly, Lymphadenopathy, Weight loss ORPHA:86893
Shigellosis
Intestinal perforation, Nausea, Hepatic failure, Uveitis, Cholestasis, Failure to thrive in infan... ORPHA:810
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy... OMIM:607685
Kid Syndrome
Onychogryposis, Neoplasm of the skin, Keratitis, Follicular hyperkeratosis, Conjunctivitis, Punct... ORPHA:477
Bacterial Toxic-Shock Syndrome
Nausea, Increased circulating myelocyte count, Localized skin lesion, Hepatitis, Fasciitis, Throm... ORPHA:36234
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Crohn's disease, Decreased proportion of memory B cells, ... OMIM:618394
Alg1-Cdg
Abnormality of the gastrointestinal tract, Decreased liver function, Chronic diarrhea, Abnormal h... ORPHA:79327
Cystic Fibrosis
Exocrine pancreatic insufficiency, Ileus, Recurrent pneumonia, Biliary cirrhosis, Hepatosplenomeg... OMIM:219700
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatosplenomegaly, Generalized limb muscle atrophy, Acute hepatic failure, Distal lower limb mus... ORPHA:466794
Hypotrichosis Simplex Of The Scalp
Epidermal acanthosis, Parakeratosis, Fine hair, Hyperkeratosis, Allergic rhinitis, Atopic dermati... ORPHA:90368
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Anemia, Hemangioma, Adenomatou... ORPHA:79076
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Hepatic steatosis, Flexion contracture, Constipation, Muscular dystrophy, Splenomegaly, He... OMIM:613327
Wild Type Attr Amyloidosis
Intermittent diarrhea, Arrhythmia, Congestive heart failure, Gastrointestinal dysmotility, Abnorm... ORPHA:330001
Trichohepatoenteric Syndrome 1
Brittle hair, Hepatic failure, Woolly hair, Cholestasis, Bifid uvula, Fine hair, Ventricular sept... OMIM:222470
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Poor suck, Esophageal neoplasm, Palmoplantar keratoderma, Weight loss, Gastrointestinal hemorrhag... ORPHA:2198
Atypical Werner Syndrome
Neoplasm of the breast, Aplasia/Hypoplasia of the eyebrow, Coronary artery atherosclerosis, Telan... ORPHA:79474
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Hypersplenism, Portal hypertension, Periportal fibrosis, Leuk... ORPHA:64743
Wilson Disease
Hepatic steatosis, Pruritus, Weight loss, Cirrhosis, Arthritis, Splenomegaly, Hepatomegaly, Jaund... ORPHA:905
Verrucous Hemangioma
Epidermal acanthosis, Papilloma, Hemangioma, Inflammatory abnormality of the skin, Skin plaque, H... ORPHA:464318
Mogs-Cdg
Apnea, Decreased circulating IgG level, Hypothyroidism, Decreased circulating total IgM, Hydrocel... ORPHA:79330
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Autoimmune hemolytic anemia, Membranous nephropathy, Recurrent sinusitis,... OMIM:615559
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Cog7-Cdg
Hepatosplenomegaly, Small for gestational age, Feeding difficulties, Hepatomegaly, Jaundice, Abno... ORPHA:79333
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Recurrent otitis media, Hashimoto thyroiditis, Anemia, Hypertension, Skin ulcer, Ly... OMIM:615688
American Trypanosomiasis
Abnormal large intestine physiology, Achalasia, Arrhythmia, Congestive heart failure, Infectious ... ORPHA:3386
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Hepatic fibrosis, Decreased liver function, Ventricular septal defect ORPHA:306550
Hurler Syndrome
Generalized hirsutism, Abnormal heart valve morphology, Camptodactyly of finger, Endocardial fibr... ORPHA:93473
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Elevated hepatic tr... OMIM:600803
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Growth delay, Jaundice, Weight loss ORPHA:79238
Friedreich Ataxia
Dystonia, Intention tremor, Urinary bladder sphincter dysfunction, Impaired visually enhanced ves... ORPHA:95
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Premature ovarian insufficiency, Amenorrhea OMIM:619425
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Reynolds Syndrome
Mucosal telangiectasiae, Infectious encephalitis, Gastroesophageal reflux, Hepatomegaly, Jaundice... ORPHA:779
Bardet-Biedl Syndrome 10
Renal cyst, Obesity, Rod-cone dystrophy, Renal insufficiency, Retinal dystrophy, Hypogonadism OMIM:615987
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Feeding difficulties in infancy, Diffuse alveolar hemorrhage, Splenomegaly, Anemia,... OMIM:616050
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619146
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration... OMIM:229070
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Gastrointestinal dysmotility, Congenital, generalized hypertrichosis... ORPHA:363705
Necrobiosis Lipoidica
Squamous cell carcinoma, Annular cutaneous lesion, Erythema, Papule, Atrophic scars, Telangiectas... ORPHA:542592
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Recurrent abscess formation, Recurrent pneumonia, Recurrent infe... ORPHA:169160
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Mpi-Cdg
Portal hypertension, Gastrointestinal hemorrhage, Decreased liver function, Hepatomegaly, Abnorma... ORPHA:79319
Rat-Bite Fever
Maculopapular exanthema, Anemia, Pancreatitis, Diarrhea, Skin rash, Myocarditis, Scaling skin, Pu... ORPHA:31205
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Recu... OMIM:606843
Niemann-Pick Disease, Type B
Foam cells with lamellar inclusion bodies, Splenomegaly, Hepatomegaly, Anemia, Short stature, Bon... OMIM:607616
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Interface hepatitis, Autoimmune hemolytic anemia, Intestinal atresia, Ventricular septal defect, ... OMIM:243150
Farber Disease
Hepatic failure, Hepatosplenomegaly, Flexion contracture, Skeletal muscle atrophy, Intrahepatic c... ORPHA:333
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Precocious puberty with Sertoli cell tumor, Breast carcinoma, Intussu... OMIM:175200
Dracunculiasis
Flexion contracture, Arthritis, Nausea and vomiting, Subcutaneous nodule, Skin ulcer, Recurrent c... ORPHA:231
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Colitis, Splenomegaly, Recurrent sinusitis, Anemia, Lymphad... OMIM:613101
Bardet-Biedl Syndrome 5
Micropenis, Obesity, Macular dystrophy, External genital hypoplasia, Rod-cone dystrophy, Hypogona... OMIM:615983
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Decreased fertility, Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia, Failure to ... OMIM:618963
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Adams-Oliver Syndrome
Abnormal pulmonary valve morphology, Aplasia/Hypoplasia of the skin, Tetralogy of Fallot, Portal ... ORPHA:974
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Patent foramen ovale, Intrauterine growth retardation, Atrial septal defect, ... ORPHA:89844
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Short stature, Splenomegaly, Intrauterine growth retardation OMIM:618541
Systemic Capillary Leak Syndrome
Myocarditis, Cough, Rhinorrhea, Pleural effusion, Pedal edema, Cardiorespiratory arrest, Pancreat... ORPHA:188
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Epidermal acanthosis, Generalized hyperkeratosis, Absent pubic hair, Sparse eyebrow, Cutis laxa, ... ORPHA:2269
Microscopic Polyangiitis
Uveitis, Gastrointestinal hemorrhage, Episcleritis, Pancreatitis, Skin ulcer, Diarrhea, Skin rash... ORPHA:727
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Decreased circulating IgG level, Increased circulating IgG... ORPHA:276
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Primary Sclerosing Cholangitis
Uveitis, Cholestasis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ascites, Ulcerative c... ORPHA:171
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Cholestasis, Elevated gamma-glutamylt... ORPHA:562639
Aicardi-Goutieres Syndrome 7
Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Increased circulating antibody level... OMIM:615846
Epidermolysis Bullosa Acquisita
Atypical scarring of skin, Abnormal hair morphology, Inflammation of the large intestine, Nail dy... ORPHA:46487
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Erythema, Abdominal pain, Subcutaneous nodule, Cardiom... ORPHA:767
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Vestibular areflexia, Sensorineural hearing impairment, Optic atrophy, Intention tremor ORPHA:504476
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Double outlet right ventricle, Ventricular septal defect, Arthrogryposis multiple... OMIM:301056
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Increased circulating ferritin concentration, Growth delay, Atopic dermatit... ORPHA:3240
Glycogen Storage Disease Vi
Failure to thrive in infancy, Increased hepatic glycogen content, Hepatomegaly, Elevated hepatic ... OMIM:232700
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Dermal translucency, Hepatic steatosis, Hepatic failure, Hepatosplenomegaly, Intrauterine growth ... ORPHA:541423
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections, Bro... OMIM:608957
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Growth delay, Eczema, Failure to thrive, Lymphadenopathy, Elevated hepatic transami... OMIM:615895
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Bardet-Biedl Syndrome 11
Retinopathy, Obesity, Hypogonadism OMIM:615988
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Immunodeficiency 59 And Hypoglycemia
High palate, Recurrent skin infections, Acne inversa, Hepatomegaly, Chronic diarrhea, Arteritis, ... OMIM:233600
Syndromic X-Linked Intellectual Disability 7
Micropenis, Cryptorchidism, Obesity, Hypoplasia of penis, Hypogonadism ORPHA:85274
Lysosomal Acid Lipase Deficiency
Hepatic failure, Fatal liver failure in infancy, Coronary artery atherosclerosis, Anemia, Abdomin... ORPHA:275761
Familial Hemophagocytic Lymphohistiocytosis
Petechiae, Ecchymosis, Hemophagocytosis, Purpura, Colitis, Infectious encephalitis, Maculopapular... ORPHA:540
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Dry skin, Absent eyelashes, Follicular hyperkeratosis, Cryptorchidism, Nail dysplasia, Aganglioni... OMIM:308205
Dpm1-Cdg
Hepatic steatosis, Hepatosplenomegaly, Gastrostomy tube feeding in infancy, Nail dysplasia, Muscu... ORPHA:79322
Sandhoff Disease
Cherry red spot of the macula, Failure to thrive, Splenomegaly, Hepatomegaly ORPHA:796
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... ORPHA:314478
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Hypoxemia, Abnormal pulmonary vein morphology, Diffuse alveo... ORPHA:199241
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Hepatomegaly, Short stature, Increased muscle glycogen conten... OMIM:261750
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Coronary artery atherosclerosis, Pancreatitis ORPHA:79084
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Weight loss, Cholestasis, Constipation, Aganglionic megacolon, Abno... ORPHA:95427
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Reduced natural killer cell activ... OMIM:308240
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Diastasis recti, Small for gestational age, Sparse eyebrow, Sparse pubic hair, Anal atresia, High... OMIM:618419
Kaposi Sarcoma
Abnormality of the liver, Abnormality of the gastrointestinal tract, Weight loss, Generalized lym... ORPHA:33276
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Infertility, Polycystic ovaries, Hypertension, Calf muscle hypertrophy, Hepati... ORPHA:280356
Wiskott-Aldrich Syndrome
Microcytic anemia, Blepharitis, Lymphoma, Anemia, Hematemesis, Otitis media, Abnormal platelet mo... ORPHA:906
Sézary Syndrome
Abnormal lymphocyte morphology, Palmoplantar keratoderma, Skeletal muscle atrophy, Lymphoma, Sple... ORPHA:3162
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Absent eyelashes, Nail dystrophy, Absent eyebrow, Male hypogonadism, Premature ov... OMIM:618625
Sandhoff Disease
Orthostatic hypotension, Hepatosplenomegaly, Skeletal muscle atrophy, Chronic diarrhea, Hepatomeg... OMIM:268800
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic failure, Cholestasis, Obesity, Splenomegaly, Hepatomegaly, Short stature, Ventricular sep... OMIM:615630
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Mixed Connective Tissue Disease
Myositis, Leukopenia, Gastrointestinal hemorrhage, Gastritis, Purpura, Gastroesophageal reflux, M... ORPHA:809
Aicardi-Goutieres Syndrome 5
Feeding difficulties in infancy, Flexion contracture, Chilblains, Scaling skin, Thrombocytopenia,... OMIM:612952
African Iron Overload
Viral hepatitis, Hepatic steatosis, Congestive heart failure, Hepatic bridging fibrosis, Peritoni... ORPHA:139507
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Polycystic ovaries, Severe short stature, Feeding diff... ORPHA:2176
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Elevated circulating alanine aminotransfera... OMIM:300972
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Persistent CMV viremia, Recurrent viral infe... OMIM:300853
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Sclerosing cholangitis, Hepatomegaly, Angular cheilitis, Jaundice, Keratoconjunctivitis sicca, Pa... OMIM:260480
Vestibulocochlear Dysfunction, Progressive
Vestibular areflexia, Progressive hearing impairment, Tinnitus OMIM:193005
Blue Rubber Bleb Nevus
Abnormality of the liver, Intussusception, Rectal prolapse, Iron deficiency anemia, Hemangioma, C... OMIM:112200
Adams-Oliver Syndrome 6
Portal hypertension, Hypoplastic toenails, Aplasia cutis congenita of scalp, Esophageal varix, Ve... OMIM:616589
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Recurrent bacterial infections, Impaired Ig class s... OMIM:608184
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Hepatic failure OMIM:261650
Chronic Diarrhea Due To Glucoamylase Deficiency
Nausea, Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphol... ORPHA:103907
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea, Leukocytosis, Anemia OMIM:619398
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchi... OMIM:612444
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Bloody diarrhea, Leukocytosis, Abnormal pericardium morphology, Weight... ORPHA:67
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Intrauterine growth retardation, Cholestasis, ... OMIM:617156
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Obesity, Abnormal intestine morphology, Dysphagia, ... ORPHA:70482
Odonto-Onycho Dysplasia-Alopecia Syndrome
Palmoplantar keratoderma, Hypoplastic toenails, Sparse eyebrow, Sparse body hair, Alopecia, Spars... ORPHA:2722
Bazex Syndrome
Liposarcoma, Palmoplantar keratoderma, Parakeratosis, Lung adenocarcinoma, Neoplasm, Nail dystrop... ORPHA:166113
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Immunodeficiency 14B, Autosomal Recessive
Recurrent pneumonia, Leukocytosis, Monocytosis, Thrombocytosis, Colitis, Neutrophilia, Chronic di... OMIM:619281
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Hepatosplenomegaly, Anemia, Osteomyelitis, Mandibular osteomyelitis, Thrombocytopen... OMIM:259710
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Pruritus, Maculopapular exanthema, Splenomegaly, Hep... ORPHA:98848
Bathing Suit Ichthyosis
Epidermal acanthosis, Multiple joint contractures, Parakeratosis, Palmoplantar hyperkeratosis, Na... ORPHA:100976
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Decreased proportion of CD3-positive T cells, Increased stool alpha1... ORPHA:90362
Bardet-Biedl Syndrome 1
High palate, Left ventricular hypertrophy, Micropenis, Abnormality of the ovary, Obesity, Agangli... OMIM:209900
Acrogeria
Fine hair, Telangiectasia of the skin, Short stature, Skin ulcer, Thin skin, Excessive wrinkled s... ORPHA:2500
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Short stature, Failure to thrive ORPHA:172
Familial Reactive Perforating Collagenosis
Perifolliculitis, Abnormal epidermal morphology, Maculopapular exanthema, Inflammatory abnormalit... ORPHA:79147
Pneumocystosis
Nonproductive cough, Increased circulating lactate dehydrogenase concentration, Respiratory failu... ORPHA:723
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Weight loss ORPHA:66661
Selective Igm Deficiency
Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Rheumatoid arthritis, Otitis... ORPHA:331235
Congenital Toxoplasmosis
Intrauterine growth retardation, Failure to thrive in infancy, Hepatomegaly, Jaundice, Macule, An... ORPHA:858
Hodgkin Lymphoma
Pruritus, Splenomegaly, Hepatomegaly, Lymphadenopathy, Weight loss ORPHA:98293
Immunodeficiency 58
Psoriasiform lesion, Recurrent aphthous stomatitis, Dysphagia, Esophagitis, Chronic mucocutaneous... OMIM:618131
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Pancytopenia, Hepatic failure, Hypoplastic anemia, Macronodula... OMIM:557000
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Primary amenorrhea, Cryptorchidism, Decreased serum estradiol, Streak ovary, Impoten... ORPHA:2232
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemi... OMIM:616278
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Increased inflammatory response, Acne, Lymphadenopathy, Pustule, Skin ... ORPHA:69126
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement
Vestibular areflexia, Sensorineural hearing impairment OMIM:609006
Bardet-Biedl Syndrome 12
Rod-cone dystrophy, Obesity, Hypogonadism OMIM:615989
Infantile Sialic Acid Storage Disease
Fair hair, High palate, Vacuolated lymphocytes, Congestive heart failure, Splenomegaly, Hepatomeg... OMIM:269920
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Erythema, Diarrhea OMIM:219095
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Ollier Disease
Visceral angiomatosis, Multiple enchondromatosis, Sarcoma, Lymphangioma, Chondrosarcoma, Neoplasm... ORPHA:296
Thymic Aplasia
Hypothyroidism, Severe infection, Invasive fungal infection, Atypical or prolonged hepatitis, Opp... ORPHA:83471
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Schistocytosis, Bloody diarrhea, Leukocytosis, Colonic stenosis, Increase... ORPHA:90038
Systemic Sclerosis
Interstitial cardiac fibrosis, Nail bed telangiectasia, Abnormality of the small intestine, Gastr... ORPHA:90291
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, H... ORPHA:444463
Leukocyte Adhesion Deficiency Type Ii
Microcytic anemia, Recurrent otitis media, Anemia, Keratitis, Recurrent pneumonia, Intrauterine g... ORPHA:99843
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia, Intrauterine growth retardation ORPHA:1980
Pseudomyxoma Peritonei
Constipation, Inflammation of the large intestine, Nausea and vomiting, Abdominal pain, Lymphaden... ORPHA:26790
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Diabetes mellitus, Overweight OMIM:613375
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Increased circulating IgG level, Thrombocytosis,... OMIM:209950
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, Bronchiectasis, Recu... OMIM:616576
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891