Gene Summary

Name:
tubulin tyrosine ligase-like 1
Synonyms:
6330444E16Rik

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased IgE level Ttll1tm1a(EUCOMM)Wtsi HET Early adult 2.14×10-05
decreased hemoglobin content Ttll1tm1a(EUCOMM)Wtsi HET Early adult 6.70×10-05
increased startle reflex Ttll1tm1a(EUCOMM)Wtsi HET Early adult 8.53×10-05
abnormal tail movements Ttll1tm1a(EUCOMM)Wtsi HET Early adult 4.57×10-05
increased lean body mass Ttll1tm1a(EUCOMM)Wtsi HET Early adult 5.29×10-06
increased mean corpuscular hemoglobin concentration Ttll1tm1a(EUCOMM)Wtsi HET Early adult 1.72×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Ttll1 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.

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

The table below shows human diseases predicted to be associated to Ttll1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Ciliary Dyskinesia With Excessively Long Cilia
Immotile cilia, Sinusitis, Abnormal respiratory motile cilium morphology, Airway obstruction, Chr... OMIM:242680
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Ciliary Dyskinesia, Primary, 6
Sinusitis, Absent/shortened outer dynein arms, Abnormal respiratory motile cilium morphology, Cil... OMIM:610852
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Sensorineural hearing impairment, Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Ciliary Dyskinesia, Primary, 34
Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Reduced respiratory ciliary beati... OMIM:617091
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
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
Ciliary Dyskinesia With Defective Radial Spokes
Abnormal respiratory system physiology, Sinusitis, Immotile cilia, Chronic rhinitis, Nasal polypo... OMIM:242670
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Abnormal central microtubular pair morphology of respiratory motile cilia, Chroni... OMIM:612649
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Ciliary Dyskinesia, Primary, 10
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia, Recurrent sinusitis, Chronic o... OMIM:612518
Ciliary Dyskinesia, Primary, 18
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Respiratory... OMIM:614874
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchi... OMIM:612444
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Decreased n... OMIM:615505
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Infertility, Recurrent otitis media, Bronchiectasis, Ciliary dyskinesia, Recurren... OMIM:613193
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Abnormal respiratory motile cilium morphology, Chro... ORPHA:922
Ciliary Dyskinesia, Primary, 16
Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Chronic otitis media, Absent outer dynein a... OMIM:614017
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Chronic rhinitis, Cili... OMIM:612650
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:215520
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Infertility, Respiratory insufficiency due to defective ciliary clearance, Recurr... OMIM:615500
Ciliary Dyskinesia, Primary, 17
Abnormal respiratory motile cilium morphology, Chronic rhinitis, Cough, Ciliary dyskinesia, Bronc... OMIM:614679
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Bilateral sensorineural hearing impairment, Male infertility, Reduced s... OMIM:611102
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Chronic rhinitis, Bronchiectasis, Absent inner and outer dynein arms, Male infert... OMIM:618801
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Abnormal axonemal organization of respiratory motile cilia, Chronic sinusiti... OMIM:613807
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Recurrent otit... OMIM:615067
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Ciliary Dyskinesia, Primary, 15
Infertility, Recurrent pneumonia, Recurrent otitis media, Abnormal axonemal organization of respi... OMIM:613808
Ciliary Dyskinesia, Primary, 46
Recurrent pneumonia, Recurrent otitis media, Reduced forced expiratory volume in one second, Redu... OMIM:619436
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Recurrent otitis media, Decreased nasal nitric oxide, Ciliary dyskinesia, At... OMIM:615294
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:614935
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Ciliary Dyskinesia, Primary, 40
Infertility, Chronic rhinitis, Reduced forced expiratory volume in one second, Azoospermia, Decre... OMIM:618300
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Infertility, Respiratory insufficiency due to defective ciliary clearance, Recurr... OMIM:615444
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
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
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Infertility, Ciliary dyskinesia, Bronchiectasis, Neonatal respiratory distress OMIM:616481
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
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Recurrent otit... OMIM:615451
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Restrictive ventilatory defect, Reduced FEV1/FVC ratio, Recurrent otitis med... OMIM:611884
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Asthma, Cou... OMIM:616037
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Sinusitis, Infertility, Nasal polyposis, Bronchiectasis, Ciliary dyskinesia, Abse... OMIM:606763
Ciliary Dyskinesia, Primary, 24
Sinusitis, Infertility, Ciliary dyskinesia, Bronchiectasis, Recurrent sinusitis, Rhinitis OMIM:615481
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Decreased n... OMIM:615504
Ciliary Dyskinesia, Primary, 25
Immotile cilia, Sinusitis, Infertility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, ... OMIM:615482
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Recurrent otit... OMIM:608647
Ciliary Dyskinesia, Primary, 29
Infertility, Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasis OMIM:615872
Deafness-Infertility Syndrome
Azoospermia, Sensorineural hearing impairment, Male infertility ORPHA:94064
Ciliary Dyskinesia, Primary, 38
Infertility, Conductive hearing impairment, Cough, Bronchiectasis, Rhinitis, Absent inner and out... OMIM:618063
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis, Recurre... OMIM:608644
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Recurrent otitis media, Chronic rhinitis, Cough, Ciliary dyskinesia, Bronchi... OMIM:616726
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormal respiratory motile cilium morphology, Ciliary dyskinesia OMIM:225050
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicocele, Azoospermia, ... ORPHA:98798
Ciliary Dyskinesia, Primary, 41
Infertility, Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurr... OMIM:618449
Spermatogenic Failure 4
Azoospermia OMIM:270960
Young Syndrome
Recurrent bronchitis, Decreased fertility, Obstructive azoospermia ORPHA:3471
Familial Male-Limited Precocious Puberty
Long penis, Acne, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Ciliary Dyskinesia, Primary, 1
Immotile cilia, Anosmia, Pneumonia, Chronic rhinitis, Nasal polyposis, Ciliary dyskinesia, Bronch... OMIM:244400
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Young Syndrome
Azoospermia, Bronchiectasis, Recurrent bronchitis OMIM:279000
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Infertility, Obesity OMIM:615703
Ciliary Dyskinesia, Primary, 37
Infertility, Chronic rhinitis, Hearing impairment, Rhinorrhea, Bronchiectasis, Wheezing OMIM:617577
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Decr... ORPHA:399805
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Mucus Inspissation Of Respiratory Tract
Atelectasis, Chronic sinusitis, Chronic pulmonary obstruction, Bronchiectasis OMIM:253240
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Increased circulating IgG level, Complete or near-complete absen... OMIM:610163
Ciliary Dyskinesia, Primary, 35
Chronic rhinitis, Nasal polyposis, Cough, Bronchiectasis, Chronic sinusitis OMIM:617092
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced vital capacity, Nasal p... OMIM:618695
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Bronchiectasis, Re... OMIM:618781
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Recurrent bronchitis, Otitis media, Chronic sinusitis OMIM:300455
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:618944
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Abnormality of male internal genitalia, Male infertility OMIM:261550
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Failure to thrive, Increased circulating I... OMIM:615767
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Failure to thrive in infancy, Small for gestationa... OMIM:617241
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Purulent rhinitis, Pneumonia, Conjunctivitis, Failure to thrive, Otitis media, Failure to thrive ... OMIM:601457
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Primary Ciliary Dyskinesia
Recurrent otitis media, Airway obstruction, Nasal congestion, Chronic rhinitis, Hearing impairmen... ORPHA:244
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Failure to thrive, Increased circulating antibody ... OMIM:615285
Immunodeficiency 72 With Autoinflammation
Increased circulating IgG level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Isolated Follicle Stimulating Hormone Deficiency
Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism... ORPHA:52901
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Otitis media, Recurrent bronchitis OMIM:312863
Bare Lymphocyte Syndrome, Type I
Emphysema, Nasal polyposis, Recurrent bronchitis, Bronchiectasis, Chronic otitis media, Chronic s... OMIM:604571
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent otitis media, Pneumonia, Recurrent skin infectio... OMIM:613953
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lack of T cell function, Failure to thrive, B lymphocytopenia, Abnormality of ... ORPHA:277
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Decreased testicular size, Abnormal sperm head morphology... ORPHA:320391
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:300400
Retinitis Pigmentosa 6
Immotile cilia OMIM:312612
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Cough ORPHA:163703
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Leukemia, Impaired lymphocy... OMIM:153600
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Increased circulating IgE level OMIM:212050
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Asthma, Recurrent upper and lower respiratory tract infections, Rhinitis, Atopic derma... ORPHA:70593
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Immunodeficiency 32B
Sinusitis, Pneumonia, Bronchiectasis OMIM:226990
Ciliary Dyskinesia, Primary, 36, X-Linked
Infertility, Cough, Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress OMIM:300991
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Anosmia, Primary amenorrhea, Micropenis, Cryptorchidism, Azoospermia, Hyposmia, Decreased testicu... OMIM:614897
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia, Pyelonephritis, Nephritis OMIM:314300
Immunodeficiency 89 And Autoimmunity
Increased circulating IgG level, Decreased eosinophil count, Increased circulating IgA level, Inc... OMIM:619632
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Incre... OMIM:202700
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic rhinitis, Bronchiectasis, Productive cough,... OMIM:618699
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Reduced sperm motility OMIM:602271
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Bloom Syndrome
Uveitis, Pneumonia, Small for gestational age, Azoospermia, Respiratory failure, Oligospermia, Rh... ORPHA:125
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating antibody level, Failure to thrive, Splenomegaly, Autoimmune hemolytic anemia OMIM:618495
Cleft Lip With Or Without Cleft Palate
Recurrent otitis media, Chronic sinusitis ORPHA:1991
Dermatitis, Atopic
Recurrent skin infections, Asthma, Eczema, Allergic rhinitis, Atopic dermatitis, Conjunctivitis OMIM:603165
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Adrenal Hypoplasia, Congenital
Hypogonadotropic hypogonadism, Cryptorchidism, Azoospermia, Oligospermia, Failure to thrive, Prec... OMIM:300200
Complement Component 4B Deficiency
Recurrent pneumonia, Recurrent otitis media, Asthma, Recurrent sinusitis, Chronic active hepatitis OMIM:614379
Microsporidiosis
Cholangitis, Prostatitis, Hepatitis, Pancreatitis, Keratitis, Abnormality of the endometrium, Inf... ORPHA:2552
Felty Syndrome
Sinusitis, Recurrent pneumonia, Arthritis, Episcleritis, Rhinitis, Synovitis, Chronic otitis medi... ORPHA:47612
Cyanosis, Transient Neonatal
Reticulocytosis, Anemia, Methemoglobinemia OMIM:613977
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgA level... OMIM:619752
47,Xyy Syndrome
Varicocele, Low-set ears, Cryptorchidism, Micropenis, Azoospermia, Asthma, Oligospermia, Macroorc... ORPHA:8
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Primary amenorrhea, Azoospermia, Cryptorchidism, Micropen... OMIM:614837
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Recurrent otitis media, Decreased nasal nitric oxide, Cough, Male infertility, Chronic sinusitis OMIM:619607
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Decreased circulating total IgM, Reduced red cell adenosine deaminase level, Autoim... OMIM:102700
H Syndrome
Amenorrhea, Chronic rhinitis, Azoospermia, Micropenis, Hearing impairment, Bronchiectasis, Psoria... ORPHA:168569
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Ciliary dyskinesia ORPHA:1882
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgE, Increase... OMIM:308230
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... OMIM:304790
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia OMIM:607676
Eosinophilopenia
Allergic rhinitis OMIM:131430
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Azoospermia, Hypogonadism, Decreased testicular size OMIM:229070
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Failure to thrive in infancy, Decreased proportion of CD4+... OMIM:606367
Alpha-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Hemolytic anemia, Abnormal hemoglobin, Hypersplenism ORPHA:846
Igg4-Related Aortitis
Hypereosinophilia, Increased circulating IgG4 level, Increased circulating antibody level, Increa... ORPHA:449400
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Recurrent otitis media, Male infertility OMIM:618948
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Azoospermia, Arthritis OMIM:602390
Laryngeal Web, Familial
Stridor, Laryngeal web, Recurrent upper respiratory tract infections, Respiratory distress OMIM:150360
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, Conjunctivitis, Chronic sinusitis OMIM:612692
Juvenile Temporal Arteritis
Allergic rhinitis, Conjunctivitis ORPHA:26137
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased circulating total IgM, Decreased proportion of ... OMIM:618394
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... OMIM:243700
Dopamine Beta-Hydroxylase Deficiency
Rhinitis, Retrograde ejaculation, Dyspnea ORPHA:230
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Incr... OMIM:614470
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hyposmia, Hypergonadotropic hypogonadism OMIM:613724
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Leishmaniasis
Rhinitis, Weight loss ORPHA:507
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Obesity, Hypergonadotropic hypogonadism ORPHA:2183
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Sclerosing cholangitis, Acute otitis media, Chronic hepatitis due to cryptosporidium i... ORPHA:572
Mu-Heavy Chain Disease
Splenomegaly, Abnormal B cell count, Anemia, Increased circulating antibody level, Weight loss ORPHA:100024
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased proportion of memory B cells, Decre... OMIM:619510
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Increased circulating IgE level OMIM:618523
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal antibody leve... OMIM:615513
Hurler-Scheie Syndrome
Rhinitis, Sensorineural hearing impairment ORPHA:93476
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Increased circulating IgE level OMIM:147060
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level, Autoimmune thrombocytopenia, Au... OMIM:619220
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... OMIM:601859
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Conductive hearing impairment, Abnormal spermatogenes... ORPHA:90646
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Thrombocytopenia 1
Increased circulating IgA level, Intermittent thrombocytopenia, Increased circulating IgE level, ... OMIM:313900
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Hearing impairment, Aplasia/hypoplasia of the uterus, Bicornuate uterus ORPHA:2578
Myotonic Dystrophy 2
Oligospermia, Hypogonadism OMIM:602668
Spermatogenic Failure 28
Azoospermia, Decreased testicular size OMIM:618086
Paroxysmal Hemicrania
Rhinitis, Focal sensory seizure with olfactory features, Rhinorrhea ORPHA:157835
Yellow Nail Syndrome
Sinusitis, Cough, Dyspnea, Pulmonary arterial hypertension, Bronchiectasis, Rhinitis ORPHA:662
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Increased circulating IgA level, Absent microvilli on the surfac... OMIM:600903
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis OMIM:613502
Scedosporiosis
Abnormal respiratory system physiology, Sinusitis, Pneumonia, Bronchial breath sound, Respiratory... ORPHA:449280
Immunodeficiency 20
Recurrent sinusitis, Recurrent otitis media, Wheezing, Recurrent viral upper respiratory tract in... OMIM:615707
Lead Poisoning
Abnormal respiratory system physiology, Abnormal sperm morphology, Infertility, Decreased female ... ORPHA:330015
Autosomal Agammaglobulinemia
Sinusitis, Recurrent skin infections, Arthritis, Cough, Bronchiectasis, Osteomyelitis, Hepatitis,... ORPHA:33110
Netherton Syndrome
Decreased circulating IgG level, Failure to thrive, Hypereosinophilia, Increased circulating IgE ... OMIM:256500
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Choanal Atresia
Tracheomalacia, Laryngomalacia, Subglottic stenosis, Abnormal nasal mucus secretion, Upper airway... ORPHA:137914
Immunodeficiency 58
Recurrent pneumonia, Recurrent upper respiratory tract infections, Nasal congestion, Cutaneous ab... OMIM:618131
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Laryngospasm, Dysplastic testes, Cryptorchidism, Abnormal pattern of respiration, Ambiguous genit... OMIM:608800
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Immunodeficiency 61
Recurrent sinusitis, Recurrent otitis media, Arthritis OMIM:300310
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Chronic sinusitis, Chronic otitis media, Decreased nasal nitric oxide, Reduced progressive sperm ... OMIM:619608
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Inflammatory abnormality of the eye, Otitis media, Recurrent cutaneous absc... ORPHA:229717
Aspergillosis
Sinusitis, Pneumonia, Abnormality on pulmonary function testing, Nasal congestion, Asthma, Infect... ORPHA:1163
Autosomal Dominant Severe Congenital Neutropenia
Recurrent skin infections, Pneumonia, Periodontitis, Recurrent aphthous stomatitis, Rhinitis ORPHA:486
Progeroid Short Stature With Pigmented Nevi
High-frequency hearing impairment, Chordee, Small for gestational age, Allergic conjunctivitis, S... OMIM:176690
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Immunodeficiency 15A
Recurrent otitis media, Cutaneous abscess, Acne inversa, Recurrent sinusitis, Chronic mucocutaneo... OMIM:618204
Functioning Gonadotropic Adenoma
Infertility, Decreased female libido, Amenorrhea, Ovarian cyst, Enlarged polycystic ovaries, Olig... ORPHA:91348
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Pgm3-Cdg
Eosinophilia, T lymphocytopenia, Reduced antigen-specific T cell proliferation, Decreased proport... ORPHA:443811
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Productive cough, Exertional dyspnea, Upper airway o... ORPHA:3348
Spermatogenic Failure 15
Non-obstructive azoospermia, Aspiration OMIM:616950
Immunodeficiency 13
Recurrent pneumonia, Recurrent otitis media, Recurrent upper respiratory tract infections, Nasal ... OMIM:615518
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent otitis media, Viral hepatitis, Recurrent pneumonia, Recurrent upper respiratory tract i... ORPHA:183675
Immunodeficiency 23
Eosinophilia, Increased circulating IgG level, Increased circulating IgM level, Neutropenia, Fail... OMIM:615816
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia OMIM:314000
Chronic Actinic Dermatitis
Eczema, Erythroderma, Allergic rhinitis, Late onset atopic dermatitis ORPHA:330064
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Increased circulating IgE level, Leukocytosis, Weight loss ORPHA:2902
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Asthma, Failure to thrive, Allergic rhinitis, Skin rash OMIM:612714
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Increased circulating IgE level OMIM:614328
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Hemophagocyt... OMIM:308240
Fragile X Syndrome
Sinusitis, Chronic otitis media, Macroorchidism, Otitis media, Mandibular prognathia ORPHA:908
Immunodeficiency, Common Variable, 4
Recurrent sinusitis, Recurrent pneumonia OMIM:613494
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4-positiv... ORPHA:3261
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Decreased hemoglobin conc... OMIM:613673
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Broad nasal tip, Small for gestational age, Low-set ears, Clitoral hypoplasia, Microtia, Oligospe... OMIM:614813
Urban-Rogers-Meyer Syndrome
Obesity, Increased circulating IgE level ORPHA:3409
Premature Ovarian Failure 10
Primary amenorrhea, Azoospermia, Decreased testicular size, Premature ovarian insufficiency, Hypo... OMIM:612885
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Alg12-Cdg
Recurrent pneumonia, Chronic rhinitis, Cryptorchidism, Micropenis, Sensorineural hearing impairme... ORPHA:79324
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Increased circulating IgG level, Thrombocytosis,... OMIM:209950
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism, Cryptorchidism, Azoosperm... ORPHA:432
Congenital Laryngeal Web
Stridor, Laryngomalacia, Respiratory distress ORPHA:2374
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Micrognathia, Bronchiectasis, Depressed nasal bridge, Malar flattening, Ant... OMIM:242860
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypogonadotropic hypogonadism, Anosmia, Cryptorchidism, Micropenis, Azoospermia, Testicular atrop... OMIM:308700
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Thrombocytosis, Iron defici... ORPHA:232
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Failure to thrive, Thrombocytopenia OMIM:618048
Gapo Syndrome
Amenorrhea, Dysmenorrhea, Hearing impairment, Low-set ears, Thick nasal alae, Choanal atresia, Ol... ORPHA:2067
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Primary testicular failure, Oligospermia, Male infertility, Abnorma... ORPHA:85450
Generalized Glucocorticoid Resistance Syndrome
Infertility, Acne, Oligospermia, Precocious puberty, Female pseudohermaphroditism, Ambiguous geni... ORPHA:786
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Opisthotonus, Polycythemia OMIM:250800
Ichthyosis Prematurity Syndrome
Asthma, Erythroderma, Allergic rhinitis, Neonatal asphyxia OMIM:608649
Granulomatosis With Polyangiitis
Sinusitis, Uveitis, Subglottic stenosis, Cough, Rhinorrhea, Episcleritis, Chronic otitis media, T... OMIM:608710
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheoma... ORPHA:60032
Partial Androgen Insensitivity Syndrome
Male sexual dysfunction, Aplasia of the uterus, Perineal hypospadias, Primary amenorrhea, Azoospe... ORPHA:90797
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Selective Igm Deficiency
Hashimoto thyroiditis, Rheumatoid arthritis, Otitis media, Keratitis, Fasciitis, Recurrent pneumo... ORPHA:331235
Wiskott-Aldrich Syndrome
Eosinophilia, Decreased circulating total IgM, Increased circulating IgA level, Autoimmune hemoly... OMIM:301000
Familial Cold Autoinflammatory Syndrome 3
Hashimoto thyroiditis, Recurrent otitis media, Allergic rhinitis, Asthma OMIM:614468
Pituitary Dermoid And Epidermoid Cysts
Oligospermia, Amenorrhea, Hypogonadism, Oligomenorrhea ORPHA:91351
Mounier-Kühn Syndrome
Tracheal stenosis, Pneumonia ORPHA:3347
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Bronchiectasis, Recurrent sinusitis, Chronic pulm... OMIM:616576
Eosinophilic Gastroenteritis
Asthma, Allergic rhinitis, Atopic dermatitis, Weight loss ORPHA:2070
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Decreased T cell activation, Leukocytosis, Increased circulating IgG level, T... OMIM:618213
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence ... OMIM:618849
Ehlers-Danlos Syndrome, Classic Type, 2
Recurrent sinusitis OMIM:130010
Laryngotracheal Angioma
Cough, Stridor, Respiratory distress, Apnea, Intercostal retractions, Wheezing ORPHA:137935
Scheie Syndrome
Rhinitis, Sensorineural hearing impairment ORPHA:93474
Lacrimal Duct Defect
Sinusitis, Conjunctivitis OMIM:149700
Rheumatic Fever
Sinusitis, Arthritis, Myocarditis, Endocarditis, Respiratory insufficiency, Recurrent pharyngitis... ORPHA:3099
Chronic Granulomatous Disease
Sinusitis, Inflammatory abnormality of the eye, Tracheoesophageal fistula, Eczema, Chronic pulmon... ORPHA:379
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Thrombocytopenia, Dystonia, Splenomegaly OMIM:615846
Degcags Syndrome
Chordee, Tracheomalacia, Cryptorchidism, Ambiguous genitalia, Short nose, Small for gestational a... OMIM:619488
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... OMIM:603909
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Arthritis, Osteomyelitis, Hepatitis, Chronic otitis media, Recurr... ORPHA:47
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Decreased proportion of memory B cells, Hepatosplenomegaly, Reduce... OMIM:615559
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Myositis, Asthma, Increased inflammatory response, Myocarditis, Cough, Tubulointerstit... ORPHA:183
Immunodeficiency, Common Variable, 1
Recurrent pneumonia, Recurrent otitis media, Pneumonia, Bronchiectasis, Recurrent bronchitis, Rec... OMIM:607594
Lujo Hemorrhagic Fever
Nonproductive cough, Crackles, Maculopapular exanthema, Myocarditis, Atelectasis, Rhinitis, Respi... ORPHA:319213
Laryngotracheoesophageal Cleft
Laryngeal cleft, Aspiration, Laryngomalacia, Cough, Dyspnea, Stridor, Neonatal respiratory distress ORPHA:2004
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Primary amenorrhea, Abnormal morphology... ORPHA:99429
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Conductive hearing impairment, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Osteomyelitis, Chronic rhinitis due to narrow nasal airway OMIM:259710
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:848
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Asthma, Failure to thrive, Atopic dermatitis, Allergic rhinitis, Eosinophilic infiltration of the... ORPHA:411696
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Infectious encephalitis, Prostatitis, Epididymitis,... OMIM:307200
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Hypereosinop... ORPHA:508533
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss ORPHA:411593
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Abnormal labia morphology, Male infertility, Abnormal sex det... ORPHA:251510
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia, Tremor ORPHA:99965
Bloom Syndrome
Decreased fertility in females, Recurrent upper respiratory tract infections, Small for gestation... OMIM:210900
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Peritonitis, Periodontitis, Tooth abscess, Pharyngitis, Ent... ORPHA:2686
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Respiratory insufficiency, Tracheoesophageal fistula, Laryngomalacia ORPHA:93941
Myotonia, Potassium-Aggravated
Laryngospasm, Stridor, Apneic episodes in infancy OMIM:608390
Keutel Syndrome
Recurrent otitis media, Underdeveloped nasal alae, Pulmonary arterial hypertension, Recurrent sin... ORPHA:85202
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Decreased circulating IgG level, Hepatosplenomegaly, Decreased proportion of CD3-po... ORPHA:169160
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Coccidioidomycosis
Abnormality of the female genitalia, Abnormal sperm morphology, Pneumonia, Erythema nodosum, Abno... ORPHA:228123
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinu... OMIM:240500
Cystic Fibrosis
Recurrent pneumonia, Reduced forced expiratory volume in one second, Asthma, Reduced forced vital... OMIM:219700
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Recurrent sinusitis, Perioral eczema, Recurrent aphthous stomatitis OMIM:613960
Schnitzler Syndrome
Anemia, Splenomegaly, Leukocytosis, Increased circulating IgM level ORPHA:37748
Hurler Syndrome
Wide nasal bridge, Rhinitis, Depressed nasal bridge, Anteverted nares, Hearing impairment ORPHA:93473
Whim Syndrome
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pneumonia, Lymphade... ORPHA:51636
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Depressed nasal bridge, Abnormality of the nose, Rhinitis OMIM:614941
Good Syndrome
Sinusitis, Recurrent skin infections, Cough, Bronchiectasis, Dyspnea ORPHA:169105
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Failure to thriv... ORPHA:37042
Primary Familial Polycythemia
Abnormal hemoglobin, Polycythemia ORPHA:90042
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Increased circulating IgE level ORPHA:2314
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Bacterial Toxic-Shock Syndrome
Sinusitis, Myositis, Pneumonia, Recurrent skin infections, Infectious encephalitis, Peritonitis, ... ORPHA:36234
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Immunodeficiency, Common Variable, 3
Recurrent sinusitis, Recurrent otitis media, Conjunctivitis OMIM:613493
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:300755
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG level, Increased circulating IgG4 level, Increased circul... ORPHA:449432
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory failure requiring assisted ventilation, Pneumonia, Gastrointestinal inflammation, Abn... ORPHA:95455
Congenital Hypothyroidism
Sinusitis, Abnormality of reproductive system physiology, Anosmia, Depressed nasal ridge, Tracheo... ORPHA:442
Fusariosis
Sinusitis, Myositis, Pneumonia, Peritonitis, Maculopapular exanthema, Pleural effusion, Fasciitis... ORPHA:228119
Aromatase Deficiency
Primary amenorrhea, Cryptorchidism, Obesity, Ambiguous genitalia, female, Eunuchoid habitus, Enla... ORPHA:91
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, True hermaphroditism, Sex reversal, Bicornuate uterus, Hypospadias, Clito... OMIM:400045
Microscopic Polyangiitis
Sinusitis, Uveitis, Arthritis, Peritonitis, Increased inflammatory response, Episcleritis, Pancre... ORPHA:727
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Underdeveloped nasal alae, Eczema, Rhinitis, Depressed nasal bridge, Respiratory distress, Short ... OMIM:305100
45,X/46,Xy Mixed Gonadal Dysgenesis
Recurrent otitis media, Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorch... ORPHA:1772
Thalidomide Embryopathy
Hearing impairment, Anotia, Chronic rhinitis ORPHA:3312
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Aplasia of the uterus, Irregular menstruation, Primary amenorrhea, Precocious puberty in females,... ORPHA:90793
Myeloma, Multiple
Paraproteinemia OMIM:254500
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal labia majora morphology, Cryptorchidism, Azoospermia, Ambiguous genitalia, female, Decre... ORPHA:90791
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Cryptorchidism, Secondary amenorrhea, Male in... ORPHA:79239
Hereditary Methemoglobinemia
Limb dystonia, Methemoglobinemia, Athetosis, Small for gestational age ORPHA:621
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Inflammatory abnormality of the eye, Cough, Eczema, Hypoplasia of the maxilla, Keratoc... ORPHA:238468
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent sinusitis, Recurrent otitis media, Recurrent bronchitis, Bronchiectasis OMIM:300853
Mucopolysaccharidosis Type 6
Thick nasal alae, Sinusitis, Recurrent upper respiratory tract infections, Chronic otitis media ORPHA:583
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Increased circulat... ORPHA:276
Thymoma
Abnormal lymphocyte proliferation, Leukemia, Abnormal lymphocyte physiology, Imbalanced hemoglobi... ORPHA:99867
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Nijmegen Breakage Syndrome
Long nose, Recurrent pneumonia, Sinusitis, Micrognathia, Bronchiectasis, Choanal atresia, Recurre... OMIM:251260
Cleidocranial Dysplasia
Sinusitis, Delayed eruption of teeth, Sleep apnea, Carious teeth, Supernumerary tooth, Micrognath... ORPHA:1452
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, Oligospermia, Ambiguous genitali... ORPHA:95699
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Failure to thrive, Increased mean corpuscular volume, Macrocytic anemia OMIM:612561
Geleophysic Dysplasia 3
Pneumonia, Bulbous nose, Sleep apnea, Respiratory failure, Subglottic stenosis, Wide nasal bridge... OMIM:617809
Adult Idiopathic Neutropenia
Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Keutel Syndrome
Emphysema, Sinusitis, Recurrent otitis media, Airway obstruction, Recurrent bronchitis, Depressed... OMIM:245150
Igg4-Related Kidney Disease
Decreased serum complement C4, Eosinophilia, Increased circulating IgG1 level, Increased circulat... ORPHA:449395
Agammaglobulinemia 10, Autosomal Dominant
Recurrent sinusitis OMIM:619707
Riddle Syndrome
Recurrent pneumonia, Restrictive ventilatory defect, Pneumonia, Respiratory failure, Recurrent si... ORPHA:420741
Immunodeficiency 14B, Autosomal Recessive
Colitis, Recurrent sinusitis, Recurrent pneumonia, Inflammation of the large intestine OMIM:619281
Immunodeficiency 56
Recurrent pneumonia, Recurrent otitis media, Cholangitis, Bronchiectasis, Recurrent sinusitis, Ch... OMIM:615207
Mucopolysaccharidosis Type 1
Sinusitis, Thick nasal alae, Cough, Depressed nasal bridge, Chronic otitis media, Apnea, Abnormal... ORPHA:579
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Conjunctivitis, Panniculitis, Arthritis, Skin rash OMIM:617591
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Immunodeficiency, Common Variable, 10
Recurrent pneumonia, Recurrent otitis media, Asthma, Recurrent viral upper respiratory tract infe... OMIM:615577
Spondyloepimetaphyseal Dysplasia, Krakow Type
Eczema, Allergic rhinitis, Asthma OMIM:618162
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Otitis media OMIM:613179
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Increased circulating IgG level, Increased circulating IgA level, Autoimmune h... OMIM:617388
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Recurrent sinusitis, Recurrent upper respiratory tract infections OMIM:613101
Subacute Inflammatory Demyelinating Polyneuropathy
Leukocytosis, Tremor, Increased circulating IgG level ORPHA:206594
Tularemia
Increased circulating antibody level, Anemia, Thrombocytopenia, Leukocytosis ORPHA:3392
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, Failure to thrive, HbH hemoglobin ORPHA:98791
Zygomycosis
Hepatitis, Pancreatitis, Fasciitis, Acute infectious pneumonia, Infectious encephalitis, Myocardi... ORPHA:73263
Ataxia-Telangiectasia
Sinusitis, Female hypogonadism, Abnormal spermatogenesis, Recurrent bronchitis, Bronchiectasis OMIM:208900
Granulomatosis With Polyangiitis
Sinusitis, Restrictive ventilatory defect, Inflammatory abnormality of the eye, Increased inflamm... ORPHA:900
Ectodermal Dysplasia And Immunodeficiency 1
Reduced natural killer cell activity, Increased circulating IgM level, Dysgammaglobulinemia, Incr... OMIM:300291
Prolidase Deficiency
Splenomegaly, Increased circulating antibody level, Anemia, Failure to thrive, Thrombocytopenia OMIM:170100
Igg4-Related Pachymeningitis
Sinusitis, Lymphadenitis, Parotitis, Dyspnea, Nephritis, Pancreatitis ORPHA:449427
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Weight loss ORPHA:90003
Carney Complex
Paranasal sinus neoplasm, Neoplasm of the pharynx, Testicular adrenal rest tumor, Abnormal morpho... ORPHA:1359
Thymic Aplasia
Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Eczematoid dermatitis, Chroni... ORPHA:83471
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Immunodeficiency 70
Colitis, Recurrent sinusitis, Furuncle OMIM:618969
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Failure to thrive in infancy, Increased circulating IgM level, Increased circulatin... OMIM:617099
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent pneumonia, Recurrent otitis media, Pneumonia, Uveitis, Erythema nodosum, Arthritis, Ast... OMIM:614700
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Increased circulating IgG level, Thrombocytosis, Increased circulating IgA level, Ane... OMIM:615934
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased HbA2 hemoglobin, Erythroid hyperplasia,... ORPHA:231222
Boutonneuse Fever
Leukopenia, Increased circulating IgM level, Thrombocytopenia, Increased circulating IgG level ORPHA:83313
Autosomal Recessive Malignant Osteopetrosis
Chronic rhinitis, Pulmonary arterial hypertension, Otitis media, Apnea, Hearing impairment ORPHA:667
Wiskott-Aldrich Syndrome
Sinusitis, Blepharitis, Arthritis, Dyspnea, Inflammation of the large intestine, Eczema, Chronic ... ORPHA:906
Fanconi Anemia, Complementation Group A
Small for gestational age, Cryptorchidism, Male infertility, Hypergonadotropic hypogonadism, Hear... OMIM:227650
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Dominant Beta-Thalassemia
Hepatosplenomegaly, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Beta-Thalassemia Major
Hepatosplenomegaly, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin concentra... ORPHA:231214
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Stiff-Person Syndrome
Anemia, Opisthotonus, Exaggerated startle response OMIM:184850
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Histiocytosis, Absent natural killer cells, Increa... ORPHA:2442
Poikiloderma With Neutropenia
Recurrent pneumonia, Blepharitis, Recurrent otitis media, Underdeveloped nasal alae, Carious teet... OMIM:604173
Tetrasomy 9P
Infertility, Myositis, Bulbous nose, Cryptorchidism, Micropenis, Pulmonary arterial hypertension,... ORPHA:3310
Developmental And Epileptic Encephalopathy 68
Failure to thrive, Exaggerated startle response OMIM:618201
Trichinellosis
Increased circulating IgE level ORPHA:863
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Micropenis, Abnormal spermatogenesis, Bilateral sensorineural hearing i... ORPHA:3464
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Immunodeficiency, Common Variable, 14
Recurrent sinusitis, Psoriasiform dermatitis OMIM:617765
Shwachman-Diamond Syndrome 1
Pancytopenia, Small for gestational age, Acute myeloid leukemia, Neutropenia, Anemia, Failure to ... OMIM:260400
Autosomal Dominant Polycystic Kidney Disease
Pyelonephritis, Reduced sperm motility ORPHA:730
C3 Glomerulopathy
Decreased serum complement C4, Decreased serum complement C3, Paraproteinemia ORPHA:329918
Simpson-Golabi-Behmel Syndrome
Polysplenia, Splenomegaly, Increased circulating IgE level ORPHA:373
Igg4-Related Ophthalmic Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level ORPHA:449563
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent pneumonia, Recurrent otitis media, Lymphadenitis, Bronchiectasis, Recurrent sinusitis, ... OMIM:618986
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Overweight OMIM:619769
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Obesity, HbH hemoglobin OMIM:141750
Caffey Disease
Increased circulating antibody level ORPHA:1310
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Increased ... ORPHA:91139
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Splenomegaly, Increased circulating antibody level, Anemia, Hyperspleni... ORPHA:77259
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Angiostrongyliasis
Hypereosinophilia, Increased circulating IgG level, Increased circulating IgM level, Increased ci... ORPHA:74
Pneumocystosis
Abnormal neutrophil count, Increased circulating antibody level, Weight loss ORPHA:723
Pyoderma Gangrenosum
Increased circulating antibody level, Myeloid leukemia ORPHA:48104
Multiple Myeloma
Increased circulating IgG level, Increased circulating IgA level, Splenomegaly, Decreased circula... ORPHA:29073
Complement Factor I Deficiency
Recurrent otitis media, Pyelonephritis, Recurrent skin infections, Glomerulonephritis, Recurrent ... OMIM:610984
Mevalonic Aciduria
Normocytic hypoplastic anemia, Hepatosplenomegaly, Leukocytosis, Failure to thrive in infancy, Fl... OMIM:610377
Trichothiodystrophy 3, Photosensitive
Neutropenia, Increased circulating IgA level, Failure to thrive, Lymphopenia OMIM:616395
Diphallia
Ectopic scrotum, Bifid penis, Cryptorchidism, Abnormal spermatogenesis, Epispadias, Distal urethr... ORPHA:227
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Gout, Atretic vas deferens, Bicornuate uterus, Hypoplasia of the uterus, Hypospa... OMIM:137920
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Infectious encephalitis, Pustule, Hyposmia ORPHA:68
Shwachman-Diamond Syndrome
Sinusitis, Pneumonia, Delayed eruption of teeth, Carious teeth, Eczema, Osteomyelitis, Skin rash ORPHA:811
Leukocyte Adhesion Deficiency
Sinusitis, Pneumonia, Recurrent skin infections, Peritonitis, Glomerulonephritis, Bronchiectasis,... ORPHA:2968
Aromatic L-Amino Acid Decarboxylase Deficiency
Oculogyric crisis, Blepharospasm, Athetosis, Limb dystonia, Limb tremor, Exaggerated startle resp... OMIM:608643
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent pneumonia, Recurrent otitis media, Recurrent upper respiratory tract infections, Bronch... ORPHA:293978
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Bone marrow hypocellularity, Increased circulating IgM level, Splenomegaly, Neutropen... OMIM:617303
Blackfan-Diamond Anemia
Leukopenia, Small for gestational age, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukem... ORPHA:124
Iga Pemphigus
Eosinophilia, Monoclonal elevation of circulating IgA, Increased circulating IgA level ORPHA:555905
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Conjunctivitis OMIM:601495
Ebola Hemorrhagic Fever
Increased circulating antibody level, Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126