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Gene: Cby1 MGI:1920989

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
chibby family member 1, beta catenin antagonist
Synonyms:
PGEA14,  Pgea1,  1110014P06Rik,  arb1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cby1 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 Cby1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Joubert Syndrome
Apnea, Episodic tachypnea, Highly arched eyebrow, Low-set ears, Abnormal pattern of respiration ORPHA:475

The table below shows human diseases predicted to be associated to Cby1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Bronchiectasis, D... OMIM:612649
Ciliary Dyskinesia, Primary, 14
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Absent inner d... OMIM:613807
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Chronic pulmonary... OMIM:612650
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Cough, Wheezing... OMIM:613808
Ciliary Dyskinesia, Primary, 34
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, A... OMIM:617091
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... OMIM:615505
Ciliary Dyskinesia, Primary, 9
Male infertility, Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiecta... OMIM:612444
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Chroni... OMIM:620356
Ciliary Dyskinesia, Primary, 6
Recurrent respiratory infections, Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary... OMIM:610852
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr... OMIM:300455
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Bronch... OMIM:615500
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Bronchiectasis, ... OMIM:614679
Ciliary Dyskinesia, Primary, 18
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Absent outer dynein ar... OMIM:614874
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro... OMIM:620032
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Infertility, ... OMIM:613193
Ciliary Dyskinesia, Primary, 10
Recurrent sinusitis, Chronic otitis media, Abnormal respiratory motile cilium morphology, Ciliary... OMIM:612518
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Nasal polyposis, Cough, Absent outer dynein arms, Asthma, Bronc... OMIM:616037
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Ciliary dyskinesia, Abnormal respiratory motile cilium morpho... OMIM:215520
Isolated Agammaglobulinemia
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn... ORPHA:229717
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... OMIM:613953
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Conductive hearing impairment, Decreased nasal n... OMIM:618063
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Bronchiectasi... OMIM:606763
Primary Ciliary Dyskinesia
Asplenia, Chronic otitis media, Conductive hearing impairment, Abnormal sperm motility, Male infe... ORPHA:244
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis medi... OMIM:604571
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,... OMIM:615444
Ciliary Dyskinesia, Primary, 45
Male infertility, Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein... OMIM:618801
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot... OMIM:614017
Ciliary Dyskinesia, Primary, 1
Male infertility, Nasal polyposis, Pneumonia, Absent frontal sinuses, Absent outer dynein arms, A... OMIM:244400
Scedosporiosis
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni... ORPHA:449280
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Sparse scalp hair, Sparse eyebrow, Recurrent infections, Ciliary dyskinesia, Abnormal respiratory... OMIM:225050
Ciliary Dyskinesia With Defective Radial Spokes
Sinusitis, Nasal polyposis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhini... OMIM:242670
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
X-Linked Agammaglobulinemia
Sinusitis, Abnormal lung morphology, Sepsis, Conjunctivitis, Neutropenia, Chronic otitis media, M... ORPHA:47
Felty Syndrome
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Recurrent p... ORPHA:47612
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Recurre... ORPHA:33110
Ciliary Dyskinesia, Primary, 19
Male infertility, Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Absent inner... OMIM:614935
Activated Pi3K-Delta Syndrome
Pneumonia, Severe varicella zoster infection, Splenomegaly, Recurrent tonsillitis, Bronchiectasis... ORPHA:397596
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect... OMIM:617092
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Short stature, Recurrent bacterial infections, Neutropenia, Rec... OMIM:616022
Immunodeficiency 32B
Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytope... OMIM:226990
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... ORPHA:572
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ... ORPHA:60033
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, Ab... OMIM:618300
Immunodeficiency 102
Recurrent skin infections, Autoimmune thrombocytopenia, Severe varicella zoster infection, Recurr... OMIM:301082
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Recurrent opportunistic infec... ORPHA:277
Aspergillosis
Sinusitis, Cough, Neutropenia, Meningitis, Infectious encephalitis, Chronic pulmonary obstruction... ORPHA:1163
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Cyclic Neutropenia
Pharyngitis, Sinusitis, Recurrent skin infections, Cyclic neutropenia, Respiratory tract infectio... ORPHA:2686
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Infe... OMIM:615872
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Neutropenia, Rec... OMIM:613502
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Conjunctivitis, ... OMIM:612692
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Lethal Congenital Contracture Syndrome 11
Microretrognathia, Flexion contracture, Elbow flexion contracture, Retrognathia, Distal arthrogry... OMIM:617194
Spermatogenic Failure, X-Linked, 6
Male infertility, Recurrent pneumonia, Coiled sperm flagella, Reduced sperm motility, Absent sper... OMIM:301101
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age, Postnatal growth retardation, Flexion contractur... OMIM:616733
Ciliary Dyskinesia, Primary, 33
Atelectasis, Conductive hearing impairment, Recurrent pneumonia, Bronchiectasis, Ciliary dyskines... OMIM:616726
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Pulmonary hypoplasia, Neonatal death, Pulmonary arterial hypertens... OMIM:619003
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Recurrent bacterial meningitis, Recurrent bacterial upper respiratory tract infections... ORPHA:70593
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Recurrent urinary tract infections, Sinusitis, Autoimmune hemolytic anemia, Pn... OMIM:613179
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... OMIM:307200
Granulomatosis With Polyangiitis
Subglottic stenosis, Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized p... OMIM:608710
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Yellow nails, Dyspnea, Bronchiectasis, Neoplasm of t... ORPHA:662
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasa... OMIM:300991
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Neonatal death, Laryngomalacia, Pulmonary hypoplasia, Tracheomalacia OMIM:245650
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... OMIM:608957
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Cholangitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cho... ORPHA:183675
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Sepsis, Anemia, Arthritis, Recurrent... OMIM:620321
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... OMIM:614868
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Abnormal lung lobation, Pulmonary hyp... ORPHA:2631
Whim Syndrome
Pharyngitis, Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis... ORPHA:51636
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Pgm3-Cdg
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Leukopenia, T lymphocytopenia, Neutro... ORPHA:443811
Lig4 Syndrome
Recurrent respiratory infections, Pancytopenia, Psoriasiform dermatitis, Small for gestational ag... OMIM:606593
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu... ORPHA:228119
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Obesity, Arthritis, Recur... OMIM:300310
Ciliary Dyskinesia, Primary, 41
Impaired nasal mucociliary clearance, Bronchiectasis, Infertility, Recurrent sinusitis, Immotile ... OMIM:618449
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st... OMIM:615067
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Micrognathia, Asthma, Pne... ORPHA:2257
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Sinusitis, Short stature, Pneumonia, Micrognathia, Bronchiectasis, T lymphocyt... OMIM:242860
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respirat... OMIM:608184
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Tachypne... ORPHA:36234
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Micrognathia, Knee flexion contracture, Pulmonary hypoplasi... OMIM:616531
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Ankle flexion contracture, Micrognathia, Flexion contracture, Elbow flexion cont... OMIM:617468
Specific Granule Deficiency 2
Absent neutrophil specific granules, Abnormal pinna morphology, Posteriorly rotated ears, Simple ... OMIM:617475
Immunodeficiency 20
Recurrent respiratory infections, Recurrent oral herpes, Severe varicella zoster infection, Wheez... OMIM:615707
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Pulmonary hypoplasia, Neonatal dea... OMIM:615524
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Flexion contracture, Respiratory failure, Pulmonary hypoplasia, Ar... OMIM:616867
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Nasal polyposis, Recurrent intrapulmonary h... ORPHA:183
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... ORPHA:70592
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact... OMIM:613500
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... OMIM:613493
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... OMIM:243700
Ciliary Dyskinesia, Primary, 46
Hearing impairment, Reduced forced expiratory volume in one second, Reduced forced vital capacity... OMIM:619436
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Re... OMIM:613779
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Short stature, Bone-marrow foam cells, Dyspnea, Thrombocytopeni... OMIM:607616
Immunodeficiency 13
Lymphopenia, Nasal polyposis, Recurrent shingles, Recurrent pneumonia, Bronchiolitis obliterans o... OMIM:615518
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Recurrent respiratory infections, Nasal polyposis, Decreased nasal nitric oxide... OMIM:620197
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C... ORPHA:1164
Whim Syndrome 1
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis, Neu... OMIM:193670
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu... OMIM:615482
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis OMIM:613494
Mannose-Binding Lectin Deficiency
Recurrent herpes, Failure to thrive, Recurrent skin infections, Disseminated cryptosporidium infe... OMIM:614372
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory insufficiency, Increased conn... OMIM:255320
Immunodeficiency 15A
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:618204
Rheumatic Fever
Pericarditis, Sinusitis, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, Myocarditi... ORPHA:3099
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Immunodeficiency, Common Variable, 1
Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence of anti-neu... OMIM:607594
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Failure to thrive, Pulmonary hypoplasia OMIM:614096
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Severe ... OMIM:102700
Achondrogenesis Type 2
Short stature, Pulmonary hypoplasia, Cardiorespiratory arrest, Hearing impairment ORPHA:93296
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... OMIM:608647
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... OMIM:618695
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen... OMIM:613501
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... ORPHA:911
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Atelosteogenesis, Type Ii
Micrognathia, Respiratory insufficiency, Stillbirth, Pulmonary hypoplasia, Malar flattening OMIM:256050
Immunodeficiency, Common Variable, 2
Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis... OMIM:240500
Autosomal Dominant Severe Congenital Neutropenia
Pharyngitis, Recurrent sinopulmonary infections, Acute myeloid leukemia, Recurrent skin infection... ORPHA:486
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Nasal polyposis, Sinusitis, R... ORPHA:586
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent herpes, Decreased proportion of naive T cells, Ski... ORPHA:276
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Necroti... OMIM:613860
Chronic Granulomatous Disease
Recurrent respiratory infections, Sinusitis, Eczema, Abnormality of neutrophils, Meningitis, Sple... ORPHA:379
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth... ORPHA:2902
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Respiratory insuffi... OMIM:224410
Febrile Infection-Related Epilepsy Syndrome
Sinusitis, Cough ORPHA:163703
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Cry... ORPHA:994
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... ORPHA:319552
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Dyspnea, Meningitis, Emphysema, Sensorineural hearing impairment, Spleno... ORPHA:36412
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... OMIM:613490
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Subglottic stenosis, Upper airway obstruc... ORPHA:137914
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Pulmonary hypoplasia OMIM:618174
Thanatophoric Dysplasia
Respiratory insufficiency, Disproportionate short-limb short stature, Low-set ears, Pulmonary hyp... ORPHA:2655
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc... ORPHA:2302
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Alopecia, Recurrent skin infections, Auto... OMIM:616576
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Hypoxemia ORPHA:2140
Complement Component 4B Deficiency
Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis medi... OMIM:614379
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:608644
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... ORPHA:217390
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Tonne-Kalscheuer Syndrome
Short stature, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Fine hair, Growth d... OMIM:300978
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Micrognathia, Splenomegaly, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Anemia ORPHA:1046
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sple... ORPHA:169090
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Agnathia-Otocephaly Complex
Respiratory distress, Micrognathia, Laryngeal hypoplasia, Conductive hearing impairment, Hypoplas... OMIM:202650
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral infections,... ORPHA:811
Mucopolysaccharidosis Type 6
Sinusitis, Splenomegaly, Recurrent upper respiratory tract infections, Disproportionate short-tru... ORPHA:583
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect... ORPHA:79126
Cystic Fibrosis
Male infertility, Nasal polyposis, Reduced forced expiratory volume in one second, Reduced forced... OMIM:219700
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Delayed eruption of teeth, Short stature,... OMIM:184260
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2141
Riddle Syndrome
Short stature, Pneumonia, Bronchitis, Recurrent viral infections, Neonatal asphyxia, Recurrent pn... ORPHA:420741
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Maternal Uniparental Disomy Of Chromosome 2
Neonatal respiratory distress, Premature ovarian insufficiency, Bilateral cryptorchidism, Postnat... ORPHA:96179
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Inflammation of the large i... ORPHA:906
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Sepsis, N... ORPHA:2552
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Alopecia univer... OMIM:606367
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Low-frequency sensorineural hearing impairment, Recurrent upper respiratory tract i... OMIM:613101
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased B cell count, Eczema, Invasive fungal infection, Recurrent mycobacterial infections, In... ORPHA:98813
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Short stature, Recurrent viral infections, Cheilitis, Bronc... OMIM:615468
Granulomatosis With Polyangiitis
Sinusitis, Granulomatosis, Otitis media, Cough, Chronic otitis media, Meningitis, Chronic pulmona... ORPHA:900
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati... ORPHA:70588
Omenn Syndrome
Alopecia, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Splenome... OMIM:603554
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interst... OMIM:612387
Hypophosphatasia
Short stature, Failure to thrive in infancy, Respiratory insufficiency, Emphysema, Anemia ORPHA:436
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Inguinal hernia, Sinusitis, Apnea, Short stature, Splenomegaly,... ORPHA:579
Ehlers-Danlos Syndrome, Classic Type, 2
Hernia, Atrophic scars, Cigarette-paper scars, Recurrent sinusitis OMIM:130010
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... OMIM:618986
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti... ORPHA:73263
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Micrognathia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Mi... OMIM:608013
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Frontotempo... OMIM:263210
Microphthalmia, Syndromic 9
Inguinal hernia, Severe short stature, Short stature, Congenital diaphragmatic hernia, Micrognath... OMIM:601186
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Crypto... OMIM:612541
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,... ORPHA:70587
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Pericallosal lipoma, Posteriorly rotated ... ORPHA:3309
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Persistence of primary teeth, Recurr... OMIM:147060
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Micrognathia OMIM:601809
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Low-set ears, Testicular atrophy OMIM:601163
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bron... OMIM:242700
Immunodeficiency 36 With Lymphoproliferation
Short stature, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections... OMIM:616005
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Chronic infection, Atelectasis, Dyspnea, C... ORPHA:2357
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Omphalocele, Respiratory failure, Pulmonary hypoplasia, Low-set ears OMIM:617895
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Sparse scalp hair, Apnea, Short stature, Micrognathia... ORPHA:85201
Myelolymphatic Insufficiency
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... OMIM:310350
Severe Congenital Nemaline Myopathy
Increased connective tissue, Flexion contracture, Respiratory failure, Pulmonary hypoplasia, Low-... ORPHA:171430
Nephronophthisis 2
Respiratory failure, Chronic tubulointerstitial nephritis, Pulmonary hypoplasia, Respiratory insu... OMIM:602088
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Micrognathia, Hypoplasia of the maxilla, Splenomegaly, Flexion cont... OMIM:608149
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Dyspnea, Stridor, Laryngomalacia... ORPHA:2004
Tularemia
Respiratory distress, Pharyngitis, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnorma... ORPHA:3392
Alg3-Cdg
Lipodystrophy, Abnormal pinna morphology, Recurrent infections, Pulmonary hypoplasia, Arthrogrypo... ORPHA:79321
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of... ORPHA:254361
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:306400
Immunodeficiency With Hyper-Igm, Type 2
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... OMIM:605258
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Sinusitis, Premature ovarian insufficiency, Autoimmune hemoly... OMIM:251260
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Lipodystrophy, Failure to thrive, Thrombocytopenia, Splenomegaly,... OMIM:617591
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Posteriorly rotated ears, Small for gestational age, Micrognathia, Flexion contracture, Large fle... OMIM:616897
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele, Recurrent respiratory infections, Underfolded helix, Posteriorly rotated ears, Highl... OMIM:618316
Fragile X Syndrome
Mandibular prognathia, Sinusitis, Protruding ear, Otitis media, Macroorchidism, Chronic otitis media ORPHA:908
1Q41Q42 Microdeletion Syndrome
Hypergonadotropic hypogonadism, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, H... ORPHA:250999
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Disproportionate short-limb short stature, Pulmonary hypoplasia, N... OMIM:187600
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Crackles, Dyspnea, Premature graying of hair, Decreased DLCO, Anem... OMIM:614742
Cleidocranial Dysplasia
Mandibular prognathia, Recurrent respiratory infections, Delayed eruption of teeth, Sinusitis, Sh... ORPHA:1452
Ataxia-Telangiectasia
Failure to thrive, Sinusitis, Female hypogonadism, Short stature, Abnormal hair morphology, Bronc... OMIM:208900
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Congenital diaphragmatic hernia, Hypoxemia, Aplasia of the left he... ORPHA:2847
Dyssegmental Dysplasia, Silverman-Handmaker Type
Severe short stature, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Flexion contracture... ORPHA:1865
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Birt-Hogg-Dubé Syndrome
Multiple lipomas, Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Accessory spleen, Inguinal hernia, Micrognathia, Morgagni di... OMIM:613177
Deafness-Infertility Syndrome
Male infertility, Azoospermia, Sensorineural hearing impairment ORPHA:94064
Immunodeficiency 23
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, Fai... OMIM:615816
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Bronchiectasis, Persistent EBV viremia, Recurrent sinusitis, Absent c... OMIM:620282
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... OMIM:611521
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Eos... OMIM:618282
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Dyspnea, Abnormal lung morphology, Lymphadenitis, Nephritis, Pancreatiti... ORPHA:449427
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Diaphanospondylodysostosis
Respiratory distress, Inguinal hernia, Micrognathia, Disproportionate short-trunk short stature, ... OMIM:608022
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Stillbirth, Pulmonary hypoplasia, Low-set ears, Neonatal death, Arthrogryposis... OMIM:236500
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:3346
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Keutel Syndrome
Sinusitis, Cartilaginous ossification of larynx, Recurrent bronchitis, Hearing impairment, Calcif... OMIM:245150
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Neutropenia, Hepatitis, Seps... OMIM:308230
Lethal Congenital Contracture Syndrome Type 1
Low-set, posteriorly rotated ears, Short stature, Pulmonary hypoplasia, Micrognathia ORPHA:1486
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morphology, Bro... OMIM:620233
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections OMIM:242870
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Pallister-Hall-Like Syndrome
Short stature, Pulmonary hypoplasia, Micrognathia OMIM:241800
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Respiratory insufficiency OMIM:267430
Immunodeficiency 46
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Conjuncti... OMIM:616740
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Microretrognathia, Neonatal respiratory distress, Flexion contracture, Pulmonary hypoplasia, Arth... OMIM:616866
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Subglottic stenosis, Omphalocele, Small f... ORPHA:1199
Bloom Syndrome
Recurrent herpes, Bronchitis, Micrognathia, Severe varicella zoster infection, Adipose tissue los... ORPHA:125
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Lethal Congenital Contracture Syndrome 1
Neonatal death, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Micrognathia OMIM:253310
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Recurrent urinary tract infecti... OMIM:615559
Mirage Syndrome
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Short stature, Cryptorchidism... OMIM:617053
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections, Abnormal testis morphology ORPHA:1548
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Micrognathia, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of t... OMIM:619708
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Autosomal Recessive Multiple Pterygium Syndrome
Neonatal respiratory distress, Inguinal hernia, Short stature, Camptodactyly of finger, Micrognat... ORPHA:2990
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Congenital Myopathy 17
Mandibular prognathia, Failure to thrive in infancy, Respiratory tract infection, Dental malocclu... OMIM:618975
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Abnormal spleen morpho... ORPHA:2470
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Leukocytosis, Thromb... ORPHA:90060
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... OMIM:209950
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eo... ORPHA:2314
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema, Increased proportion of exhausted T cells OMIM:618307
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Rhizomelia, Stillbirth, Pulmonary hypoplasia, Low-set ears, Neonatal short-... OMIM:151210
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Recurrent bacterial infections, Glomerulonephritis, Autoimmune ... OMIM:613496
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... OMIM:614700
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Weight loss, Leu... ORPHA:33355
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis OMIM:608106
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infect... OMIM:601495
Marden-Walker Syndrome
Inguinal hernia, Micrognathia, Postnatal growth retardation, Cryptorchidism, Congenital contractu... OMIM:248700
Achondroplasia
Respiratory distress, Rhizomelia, Conductive hearing impairment, Upper airway obstruction, Pulmon... OMIM:100800
Griscelli Syndrome, Type 2
Silver-gray hair, Hepatosplenomegaly, Recurrent bacterial infections, Hemophagocytosis, Melanin p... OMIM:607624
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency OMIM:601612
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility, Decreased nasal nitric oxide, Cough, Recurrent otitis media, Chronic sinusitis OMIM:619607
Netherton Syndrome
Recurrent respiratory infections, Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Short s... ORPHA:634
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Cryptorchidism, Thrombocytopenia, Premature graying of hair, Pulmonary fibrosis, Nail dystrophy, ... OMIM:620365
Short-Rib Thoracic Dysplasia 12
Omphalocele, Natal tooth, Inguinal hernia, Posteriorly rotated ears, Abnormal pinna morphology, A... OMIM:269860
Common Variable Immunodeficiency
Recurrent respiratory infections, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Auto... ORPHA:1572
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Posteriorly rotated ears, Albinism, Carious teeth, Decreased CD4:... OMIM:608233
Distal Triplication 15Q
Micrognathia, Large for gestational age, Sensorineural hearing impairment, Cupped ear, Flexion co... ORPHA:314588
Tarp Syndrome
Low-set, posteriorly rotated ears, Extramedullary hematopoiesis, Apnea, Abnormal hair pattern, Mi... ORPHA:2886
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Waardenburg Syndrome Type 3
Camptodactyly of finger, Atelectasis, White hair, Tracheomalacia, Thick eyebrow, Hearing impairment ORPHA:896
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Jeune Syndrome
Aplasia/Hypoplasia of the lungs, Short stature, Respiratory insufficiency ORPHA:474
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Conjunctivitis, Neutropenia, Meningitis, Infectious encephalitis, Ente... OMIM:300755
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Recurrent sinusitis, Absent circulating ... OMIM:619707
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... ORPHA:185
Multiple Pterygium Syndrome, X-Linked
Micrognathia, Flexion contracture, Pulmonary hypoplasia, Low-set ears, Intrauterine growth retard... OMIM:312150
Teebi Hypertelorism Syndrome 1
Omphalocele, Natal tooth, Short stature, Highly arched eyebrow, Micrognathia, Widow's peak, Hydro... OMIM:145420
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatitis ORPHA:60
Hatipoglu Immunodeficiency Syndrome
Recurrent herpes, Inguinal hernia, Pancytopenia, Eczema, Failure to thrive, Proportionate short s... OMIM:620331
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia, Eosinophili... ORPHA:331206
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency 56
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... OMIM:615207
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Abnormal pinna morphology, Pulmonary hypoplasia, Neonatal death OMIM:231680
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Unilateral cryptorchidism, Bilateral cryptorchidism, Atelectasis, Neonatal ... OMIM:300219
Hemidystonia-Hemiatrophy Syndrome
Advanced pneumatization of cranial sinuses, Abnormal paranasal sinus morphology, Rhizomelic leg s... ORPHA:306741
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho... ORPHA:79124
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocyto... OMIM:618278
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Micrognathia, Splenomegaly, Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:3035
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Omphalocele, Rhizomelia, Sparse eyebrow, Cryptorchidism, Hypoplas... OMIM:616300
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Short stature OMIM:210050
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Hypoplasia of the maxilla, Aplasia/... ORPHA:238468
Meier-Gorlin Syndrome 4
Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Birth length less than 3r... OMIM:613804
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Hypochromic microcytic anemia, Crohn... OMIM:619632
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Mixed hearing impairment, Multiple joint contractures, Posteriorly rotated ... ORPHA:536467
Multiple Pterygium Syndrome, Lethal Type
Micrognathia, Flexion contracture, Pulmonary hypoplasia, Low-set ears, Intrauterine growth retard... OMIM:253290
Joubert Syndrome 21
Apnea, Dyspnea, Sensorineural hearing impairment, Splenomegaly, Respiratory failure, Pulmonary hy... OMIM:615636
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs, Splenomegaly, Short stature ORPHA:2204
Renal Hypodysplasia/Aplasia 1
Low-set ears, Retrognathia, Pulmonary hypoplasia, Primary amenorrhea OMIM:191830
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, Inflammation o... OMIM:619281
Platyspondylic Dysplasia, Torrance Type
Malar flattening, Disproportionate short-limb short stature, Pulmonary hypoplasia, Low-set ears ORPHA:85166
Chromosome 1Q41-Q42 Deletion Syndrome
Short stature, Congenital diaphragmatic hernia, Supernumerary nipple, Sparse eyebrow, Cryptorchid... OMIM:612530
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Prolidase Deficiency
Eczema, Micrognathia, Thrombocytopenia, Asthma, Recurrent pneumonia, Crusting erythematous dermat... OMIM:170100
Stuve-Wiedemann Syndrome 1
Apnea, Short stature, Micrognathia, Carious teeth, Pulmonary arterial medial hypertrophy, Elbow f... OMIM:601559
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Recur... OMIM:619824
Peroxisome Biogenesis Disorder 1A (Zellweger)
Neonatal respiratory distress, Posteriorly rotated ears, Micrognathia, Cryptorchidism, Sensorineu... OMIM:214100
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Abnormality of the temporomandibular joint, Myositis, Increased connective tissu... ORPHA:258
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Infectious en... ORPHA:68
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Tempi Syndrome
Transudative pleural effusion, Hypoxemia, Increased hematocrit, Abnormality of the pulmonary vasc... ORPHA:284227
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Myositis, Lymphopenia, Skin rash, Failure to thrive, Pustule, T... OMIM:615934
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Limb joint contracture, Shoulder flexion contracture, Micr... OMIM:620369
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter... OMIM:620296
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Farber Disease
Respiratory distress, Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Thrombocytop... ORPHA:333
Multiple Pterygium Syndrome, Escobar Variant
Neonatal respiratory distress, Multiple joint contractures, Inguinal hernia, Short stature, Conge... OMIM:265000
Meckel Syndrome 14
Microretrognathia, Micrognathia, Pneumothorax, Cardiorespiratory arrest, Pulmonary hypoplasia, Lo... OMIM:619879
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233710
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Serkal Syndrome
Growth delay, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:139466
Immunodeficiency, Common Variable, 10
Recurrent oral herpes, Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Alopecia to... OMIM:615577
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Growth delay, Recurrent bacterial infections, T lym... ORPHA:169079
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Posteriorly rotated ears, Short stature, Small for gestational age, Mi... OMIM:619148
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... OMIM:233690
Ogden Syndrome
Apnea, Micrognathia, Protruding ear, Iron deficiency anemia, Aspiration, Intrauterine growth reta... OMIM:300855
Keutel Syndrome
Recurrent respiratory infections, Alopecia, Short stature, Pulmonary artery stenosis, Recurrent s... ORPHA:85202
Diaphragmatic Hernia 4, With Cardiovascular Defects
Neonatal respiratory distress, Micrognathia, Cryptorchidism, Aortopulmonary window, Recurrent inf... OMIM:620025
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Neonatal respiratory distress, Psoriasiform dermatitis, Recurrent urinary tract infections, Recur... ORPHA:221139
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Thrombocytopenia, Pulmonary h... OMIM:603585
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Peritonitis, Sensorineural hearing impairment... OMIM:619351
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Eosinophilia, Orchitis, Keratitis, Abnormal lung morphology, Thyroiditis,... ORPHA:449563
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, Leukocytosis, S... OMIM:612840
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Czeizel-Losonci Syndrome
Low-set, posteriorly rotated ears, Posterolateral diaphragmatic hernia, Micrognathia, Aplasia of ... ORPHA:2437
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Short stature, Eczema, Rhizomelia, Thrombocytopenia, Leukopenia... OMIM:618116
Thanatophoric Dysplasia Type 2
Aplasia/Hypoplasia of the lungs, Short stature, Respiratory insufficiency, Hearing impairment ORPHA:93274
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Orthopnea, Nonproductive cough, Dyspnea, Recurrent pneumonia, B... ORPHA:980
Acro-Renal-Mandibular Syndrome
Low-set, posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Abnormal lung l... ORPHA:958
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia OMIM:615415
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Decreased nasal nitric oxide, Polysplenia, Chronic otitis media, Chronic sinusitis, Reduced progr... OMIM:619608
Nocardiosis
Respiratory distress, Nonproductive cough, Lymphadenitis, Sepsis, Conjunctivitis, Emphysema, Infe... ORPHA:31204
Omenn Syndrome
Alopecia, Failure to thrive, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Sepsis, Thyroid... ORPHA:39041
Atelosteogenesis Type Ii
Laryngeal stenosis, Rhizomelia, Micrognathia, Elbow flexion contracture, Rhizomelic arm shortenin... ORPHA:56304
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Atelosteogenesis Type I
Laryngeal stenosis, Rhizomelia, Micrognathia, Laryngotracheal stenosis, Neonatal short-trunk shor... ORPHA:1190
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Large clumps of pigment irregularly distributed along hair s... ORPHA:167
Achondrogenesis
Inguinal hernia, Severe short stature, Micrognathia, Aplasia/Hypoplasia of the lungs, Umbilical h... ORPHA:932
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Achondrogenesis Type 1B
Severe short stature, Femoral hernia, Micrognathia, Disproportionate short stature, Aplasia/Hypop... ORPHA:93298
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Inguinal hernia, Superficial dermal perivascular inflammatory infiltrate, S... ORPHA:83617
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom... OMIM:613011
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Epistaxis, Per... ORPHA:727
Poikiloderma With Neutropenia
Skin rash, Short stature, Micrognathia, Carious teeth, Recurrent bronchopulmonary infections, Spa... OMIM:604173
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Micrognathia, Flexion contracture, Cardiorespiratory arrest, Congeni... OMIM:616503
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Eosinophilia, Lymphadenitis, Abnormal lung mo... ORPHA:449395
Craniosynostosis, Herrmann-Opitz Type
Short stature, Micrognathia, Aplasia/Hypoplasia of the lungs, Abnormal antihelix morphology, Micr... ORPHA:2145
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Epistaxis, Productive cough, Diffuse alveolar hemorrhage, Chronic inf... ORPHA:520
Boomerang Dysplasia
Aplasia/Hypoplasia of the lungs, Cryptorchidism, Severe short-limb dwarfism, Omphalocele ORPHA:1263
Lethal Congenital Contracture Syndrome 10
Omphalocele, Micrognathia, Hypoplasia of the thymus, Pulmonary hypoplasia, Low-set ears, Intraute... OMIM:617022
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Sensorineural hearing impairment, Immotile sperm OMIM:608653
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Lipodystrophy, Skin rash, Recurre... OMIM:618048
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Multiple joint contractures, Camptodactyly of finger, Abnormal pleura morphology, Micrognathia, A... ORPHA:2570
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Short stature, Respiratory insufficiency, Pulmonary hypoplasia,... OMIM:208500
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Failure to thrive, Aortopulmonary window, Pulmonary hypoplasia,... ORPHA:99050
Raine Syndrome
Mandibular prognathia, Natal tooth, Mixed hearing impairment, Posteriorly rotated ears, Abnormal ... OMIM:259775
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Laryngeal atresia, Pulmonary hypoplasia OMIM:314390
Fontaine Progeroid Syndrome
Mandibular prognathia, Micrognathia, Synophrys, Low anterior hairline, Coarse hair, Conductive he... OMIM:612289
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital p... OMIM:611812
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs, Cryptorchidism, Micrognathia ORPHA:1027
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Large for gestational ag... OMIM:614080
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Abnormal lung lobation, Respiratory insufficiency, Anomalous pul... ORPHA:1120
Microcephaly-Micromelia Syndrome
Micrognathia, Pulmonary hypoplasia, Low-set ears, Neonatal death, Intrauterine growth retardation OMIM:251230
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Hypogonadism, Nail dyst... OMIM:618165
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short stature, Fine hair, Pulmonary hypoplasia, Sparse hair, Aplasia/Hypoplasia of the eyebrow OMIM:614091
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
Achondrogenesis Type 1A
Severe short stature, Femoral hernia, Micrognathia, Aplasia/Hypoplasia of the lungs, Umbilical he... ORPHA:93299
Postinfectious Vasculitis
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, B... ORPHA:48435
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Recurrent urinary tract infections, Spontaneous pneumothorax, Cholangitis, Micro... ORPHA:731
Lacrimal Duct Defect
Sinusitis, Conjunctivitis OMIM:149700
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Alg9-Cdg
Microretrognathia, Low-set, posteriorly rotated ears, Omphalocele, Lipodystrophy, Rhizomelia, Mic... ORPHA:79328
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... OMIM:202700
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Chromomycosis
Keratitis, Abnormal lung morphology, Atypical scarring of skin, Recurrent bacterial infections, K... ORPHA:182
Whipple Disease
Myositis, Pericarditis, Cachexia, Myocarditis, Splenomegaly, Respiratory insufficiency, Uveitis, ... ORPHA:3452
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Intrauterine growth retardation ORPHA:86822
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Otopalatodigital Syndrome Type 2
Omphalocele, Abnormal pinna morphology, Camptodactyly of finger, Micrognathia, Hypoplastic fronta... ORPHA:90652
Spondylodysplastic Ehlers-Danlos Syndrome
Low-set, posteriorly rotated ears, Sparse scalp hair, Abnormality of the temporomandibular joint,... ORPHA:536471
Neu-Laxova Syndrome
Micrognathia, Abnormal eyelash morphology, Trismus, Macrotia, Flexion contracture, Abnormal hair ... ORPHA:2671
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Necrotizing enterocolitis, Atroph... OMIM:619573
Focal Segmental Glomerulosclerosis 1
Pleural effusion, Anemia OMIM:603278
Mosaic Trisomy 1
Microretrognathia, Omphalocele, Abnormal pinna morphology, Camptodactyly of finger, Congenital di... ORPHA:1692
Oligomeganephronia
Pulmonary venous occlusion, Small for gestational age, Congenital diaphragmatic hernia, Micrognat... ORPHA:2260
Vacterl With Hydrocephalus
Inguinal hernia, Microtia, third degree, Femoral hernia, Micrognathia, Cryptorchidism, Anotia, Pu... ORPHA:3412
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Inguinal hernia, Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Cryptor... ORPHA:2063
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Fryns Syndrome
Microretrognathia, Omphalocele, Large for gestational age, Cryptorchidism, Aplasia of the left he... OMIM:229850
Lujo Hemorrhagic Fever
Respiratory distress, Pharyngitis, Maculopapular exanthema, Skin rash, Crackles, Atelectasis, Non... ORPHA:319213
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Severe short stature, Camptodactyly of finger, Low-set, posterio... ORPHA:2635
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Failure to thrive, Microtia, third degree, Monorchism, Posterio... ORPHA:2753
Prune Belly Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Cryptorchidism, Decreased f... ORPHA:2970
Relapsing Polychondritis
Episcleritis, Pericarditis, Alopecia, Chondritis of pinna, Keratitis, Dyspnea, Atelectasis, Myoca... ORPHA:728
Gaucher Disease, Type I
Pancytopenia, Epistaxis, Hypersplenism, Dyspnea, Thrombocytopenia, Splenomegaly, Abnormal pulmona... OMIM:230800
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Q Fever
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Unusual in... ORPHA:781
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Meier-Gorlin Syndrome 7
Short stature, Hearing impairment, Cryptorchidism, Sensorineural hearing impairment, Growth delay... OMIM:617063
Caudal Regression Syndrome
Cryptorchidism, Pulmonary hypoplasia ORPHA:3027
Interstitial Lung And Liver Disease
Dyspnea, Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial morphology, Res... OMIM:615486
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Greenberg Dysplasia
Laryngeal calcification, Cartilaginous ossification of larynx, Rhizomelia, Micrognathia, Hypoplas... OMIM:215140
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Abnormal lung morphology, Weight loss, Abnormal testis morphology, A... ORPHA:54251
Immunodeficiency 70
Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion of CD4-positive helper T ce... OMIM:618969
Schinzel-Giedion Syndrome
Respiratory distress, Micrognathia, Hypoplasia of the epiglottis, Myeloid leukemia, Streak ovary,... ORPHA:798
Fryns Syndrome
Low-set, posteriorly rotated ears, Omphalocele, Congenital diaphragmatic hernia, Micrognathia, Cr... ORPHA:2059
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Sensorineural hearing impairment, Acute lymphoblastic leukemia, Recurrent bacterial infections, N... OMIM:610738
Acrocephalopolydactylous Dysplasia
Omphalocele, Abnormal pinna morphology, Pulmonary hypoplasia, Low-set ears, Extrapulmonary seques... OMIM:200995
Emanuel Syndrome
Broad jaw, Recurrent respiratory infections, Recurrent urinary tract infections, Inguinal hernia,... OMIM:609029
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Skin rash, Myocarditis, Meningitis, Leukocy... ORPHA:292
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Dyspnea, Leukocytosis, Weight loss, Anemia, Pleural empyema, Cough, Constrictive pe... ORPHA:67
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Recurrent bacteri... ORPHA:2688
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Meier-Gorlin Syndrome 6
Microretrognathia, Recurrent respiratory infections, Severe short stature, Posteriorly rotated ea... OMIM:616835
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Gaucher Disease, Type Ii
Apnea, Trismus, Thrombocytopenia, Splenomegaly, Stridor, Cough, Bronchiolitis, Failure to thrive,... OMIM:230900
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Inguinal hernia OMIM:261550
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Inguinal hernia, Lipodystrophy, Thick hair, Short stature, Carious teeth, Postnatal growth retard... ORPHA:357074
Verloove Vanhorick-Brubakk Syndrome
Micrognathia, Cryptorchidism, Aplasia/Hypoplasia of the lungs, Microtia, Atresia of the external ... ORPHA:3429
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Alopecia, Short stature, Micrognathia, Flexion contracture, Mild intrauterine growth retardation,... OMIM:308050
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Mosaic Trisomy 16
Small for gestational age, Abnormal lung morphology, Pulmonary hypoplasia, Intrauterine growth re... ORPHA:1708
Meacham Syndrome
Accessory spleen, Aplasia of the right hemidiaphragm, Partial anomalous pulmonary venous return, ... OMIM:608978
Oculoauriculovertebral Spectrum With Radial Defects
Short stature, Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Aplasia/... ORPHA:2549
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Aplastic anemia, Carious teeth, Dyspnea, Thrombocytopenia, Premature graying of hair, L... OMIM:127550
Stevens-Johnson Syndrome
Recurrent respiratory infections, Dyspareunia, Abnormal pleura morphology, Abnormality of neutrop... ORPHA:36426
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Achondrogenesis, Type Ia
Stillbirth, Disproportionate short-trunk short stature, Pulmonary hypoplasia, Low-set ears OMIM:200600
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... OMIM:618849
Distal Deletion 15Q
Short stature, Small for gestational age, Congenital diaphragmatic hernia, Micrognathia, Postnata... ORPHA:1596
Tetraploidy
Aplasia/Hypoplasia of the lungs, Hypoplasia of the ear cartilage, Intrauterine growth retardation... ORPHA:3305
Erythrocytosis, Familial, 1
Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Exertion... OMIM:133100
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Large for gestational age, Flexio... ORPHA:96334
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Failure to thrive, Short stature, Pulmonary hypoplasia OMIM:615503
Thanatophoric Dysplasia Type 1
Aplasia/Hypoplasia of the lungs, Lethal short-limbed short stature, Respiratory insufficiency, He... ORPHA:1860
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Recurrent viral infections, Recurrent fungal infections, Recurren... OMIM:614172
Smith-Lemli-Opitz Syndrome
Low-set, posteriorly rotated ears, Hypopigmentation of hair, Short stature, Abnormal dental ename... ORPHA:818
Osteogenesis Imperfecta
Abnormality of dental color, Micrognathia, Osteoarthritis, Flexion contracture, Neonatal respirat... ORPHA:666
Spermatogenic Failure 81
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... OMIM:620277
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Leukocyte Adhesion Deficiency Type Ii
Mandibular prognathia, Severe periodontitis, Microcytic anemia, Low anterior hairline, Conductive... ORPHA:99843
Ehlers-Danlos Syndrome, Classic Type, 1
Inguinal hernia, Short stature, Osteoarthritis, Cigarette-paper scars, Recurrent sinusitis, Umbil... OMIM:130000
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R... ORPHA:99104
Tetrasomy 9P
Myositis, Pericarditis, Recurrent urinary tract infections, Abnormal dental enamel morphology, Mi... ORPHA:3310
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Alopecia, Psoriasiform dermatitis, Severe B lymphocytopenia, Alopecia totalis, Failure to thrive,... ORPHA:293978
Fetal Akinesia Deformation Sequence 1
Hip contracture, Posteriorly rotated ears, Elbow contracture, Camptodactyly of finger, Micrognath... OMIM:208150
Vici Syndrome
Recurrent respiratory infections, Hypopigmentation of hair, Failure to thrive, Recurrent viral in... OMIM:242840
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Recurrent infections, Growth delay, Iron deficiency anemia, Thrombocytosis, R... OMIM:226300
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Abnormal hair quantity, Failure to thrive, Abnormal hair morphology, C... ORPHA:289
Pentalogy Of Cantrell
Omphalocele, Polysplenia, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:1335
Lysinuric Protein Intolerance
Glomerulonephritis, Thrombocytopenia, Intraalveolar phospholipid accumulation, Respiratory insuff... ORPHA:470
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Dyspnea, Iridocyclitis, Emphysema, Splenomegaly, Bronchiectasis, Abnormal pulmonary... OMIM:181000
Blomstrand Lethal Chondrodysplasia
Natal tooth, Rhizomelia, Micrognathia, Pulmonary hypoplasia, Low-set ears, Malar flattening, Neon... ORPHA:50945
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Lysinuric Protein Intolerance
Short stature, Thrombocytopenia, Splenomegaly, Intraalveolar phospholipid accumulation, Respirato... OMIM:222700
Pagod Syndrome
Omphalocele, Short stature, Congenital diaphragmatic hernia, Abnormality of the spleen, Pulmonary... ORPHA:991
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Abnormal pinna morphology, Laryngeal hypoplasia, Micrognathia, Low posterior hairlin... OMIM:617925
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
De Barsy Syndrome
Delayed eruption of teeth, Recurrent sinopulmonary infections, Inguinal hernia, Lipodystrophy, Sh... ORPHA:2962
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Restrictive ventilatory def... ORPHA:538
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Ulbright-Hodes Syndrome
Respiratory distress, Abnormal pinna morphology, Micrognathia, Postnatal growth retardation, Cryp... ORPHA:3404
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Neonatal respiratory distress, Lipodystrophy, Short stature, Recurrent infections, Aspiration, Fa... OMIM:618922
Dpagt1-Cdg
Lipodystrophy, Hearing impairment, Flexion contracture, Pulmonary hypoplasia, Camptodactyly, Fail... ORPHA:86309
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoarthritis, Splenomegaly, Abnormal pulmonary i... ORPHA:77259
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Recurrent bacterial ... OMIM:214500
Truncus Arteriosus
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Tachypn... ORPHA:3384
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Splenomegaly, Pulmonary hypoplasia OMIM:263200
Toxic Epidermal Necrolysis
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Thrombocytope... ORPHA:537
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Recurrent bacterial infections, Pancytopenia, B lymphocytopenia OMIM:616873
Neutropenia, Severe Congenital, X-Linked
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio OMIM:300299
Adnp Syndrome
Respiratory distress, Sparse scalp hair, Recurrent urinary tract infections, Inguinal hernia, Sho... ORPHA:404448
Meckel Syndrome, Type 6
Bilobed right lung, Pulmonary hypoplasia OMIM:612284
Immunodeficiency 10
Autoimmune hemolytic anemia, Recurrent infections, Recurrent bacterial infections, Thrombocytopen... OMIM:612783
Brucellosis
Bronchitis, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis, Epididymitis,... ORPHA:1304
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Inguinal hernia, Congenital diaphragmatic hernia, Umbilical her... OMIM:219100
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Neutropenia OMIM:606843
Kenny-Caffey Syndrome, Type 1
Proportionate short stature, Carious teeth, Birth length less than 3rd percentile, Recurrent bact... OMIM:244460
Erdheim-Chester Disease
Osteomyelitis, Hypogonadotropic hypogonadism, Skin rash, Dyspnea, Abnormal pulmonary interstitial... ORPHA:35687
Acrorenal-Mandibular Syndrome
Absent nipple, Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Elbow fle... OMIM:200980
Sickle Cell Disease
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Hypoxemia, Recurrent bacterial ... OMIM:603903
Immunodeficiency 33
Delayed eruption of teeth, Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Diss... OMIM:300636
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Short stature, Pneumonia, Autoimmune thrombocytopenia, Neutrope... OMIM:607944
Kaposiform Lymphangiomatosis
Metrorrhagia, Epistaxis, Dyspnea, Abnormal lung morphology, Thrombocytopenia, Splenomegaly, Hepat... ORPHA:464329
Immunodeficiency 22
Pericarditis, Thrombocytopenia, Recurrent upper respiratory tract infections, Panniculitis, Chron... OMIM:615758
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Short stature, Congenital diaphragmatic hernia, Micrognathia, Abnormality of the spl... ORPHA:1834
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Splenomegaly, Pulmonary hypoplasia, Polysplenia, Neonatal death OMIM:208540
Fanconi Anemia, Complementation Group F
Short stature, Pneumonia, Cryptorchidism, Thrombocytopenia, Leukopenia, Microtia, Conductive hear... OMIM:603467
Smith-Lemli-Opitz Syndrome
Microretrognathia, Posteriorly rotated ears, Eczema, Short stature, Micrognathia, Cryptorchidism,... OMIM:270400
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Seborrheic dermatitis, Sensorineural hearing impairment, Recurrent bacterial i... OMIM:619693
Erythrocytosis, Familial, 2
Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Pulmonary arterial hyp... OMIM:263400
Icf Syndrome
Recurrent respiratory infections, Short stature, Abnormality of neutrophils, Micrognathia, Low-se... ORPHA:2268
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Short stature, Delayed puberty, Anemia, Irreg... ORPHA:79259
Rajab Interstitial Lung Disease With Brain Calcifications 1
Recurrent urinary tract infections, Inguinal hernia, Pancytopenia, Short stature, Small for gesta... OMIM:613658
Gamma-Heavy Chain Disease
Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytop... ORPHA:100026
Renal Agenesis, Bilateral
Pulmonary hypoplasia, Low-set ears ORPHA:1848
Sarcoidosis
Abnormal nasal mucosa morphology, Abnormal lung morphology, Increased T cell count, Uveitis, Tubu... ORPHA:797
Meckel Syndrome, Type 1
Omphalocele, Natal tooth, Accessory spleen, Camptodactyly of finger, Micrognathia, Asplenia, Cryp... OMIM:249000
Restrictive Dermopathy 1
Natal tooth, Sparse eyelashes, Limb joint contracture, Short nail, Micrognathia, Absent eyelashes... OMIM:275210
Fraser Syndrome 1
Subglottic stenosis, Laryngeal stenosis, Absent eyebrow, Abnormal pinna morphology, Absent eyelas... OMIM:219000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, Growth delay, Recurrent bacterial infections, ... OMIM:615895
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Hearing impairment, Respiratory tract infection, Atelectasis, Re... ORPHA:365
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Recurrent sinusitis, Decreased proportion of class-switched memory B cells OMIM:617765
Loeys-Dietz Syndrome 4
Inguinal hernia, Eosinophilic infiltration of the esophagus, Pneumothorax, Emphysema, Retrognathia OMIM:614816
Cardiac-Urogenital Syndrome
Accessory spleen, Unilateral cryptorchidism, Tracheomalacia, Congenital diaphragmatic hernia, Cry... OMIM:618280
Digeorge Syndrome
Micrognathia, Hypoplasia of the thymus, Acne, Femoral hernia, Short stature, Atelectasis, Chronic... OMIM:188400
Thoracoabdominal Syndrome
Omphalocele, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Ventral hernia OMIM:313850
Wiskott-Aldrich Syndrome
Recurrent herpes, Sepsis, Iron deficiency anemia, Inflammation of the large intestine, Absent mic... OMIM:301000
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Pulmonary hypoplasia, Low-set ears OMIM:616546
Neu-Laxova Syndrome 1
Micrognathia, Absent eyelashes, Cryptorchidism, Yellow subcutaneous tissue covered by thin, scaly... OMIM:256520
Neonatal Marfan Syndrome
Neonatal respiratory distress, Lipoatrophy, Small for gestational age, Micrognathia, Flexion cont... ORPHA:284979
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Inguinal hernia, Severe short stature, Pneumothorax, Recurren... ORPHA:90349
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short stature, Eczema, Thrombocytopenia, Recurrent upper respiratory t... ORPHA:508542
Cutis Laxa, Autosomal Dominant 1
Inguinal hernia, Dyspnea, Bronchiectasis, Uterine prolapse, Emphysema, Peripheral pulmonary arter... OMIM:123700
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Abnormal eryth... ORPHA:79239
Diamond-Blackfan Anemia 10
Respiratory distress, Macrocytic anemia, Posteriorly rotated ears, Short stature, Congenital diap... OMIM:613309
Mannosidosis, Alpha B, Lysosomal
Mandibular prognathia, Inguinal hernia, Splenomegaly, Sensorineural hearing impairment, Vacuolate... OMIM:248500
Opitz Gbbb Syndrome
Abnormal nasopharynx morphology, Inguinal hernia, Posteriorly rotated ears, Cryptorchidism, Widow... OMIM:300000
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Aspiration, Fai... OMIM:610768
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Umbilical he... OMIM:618651
Tetraamelia-Multiple Malformations Syndrome
Micrognathia, Cryptorchidism, Abnormal lung lobation, Aplasia/Hypoplasia of the lungs, Microtia, ... ORPHA:3301
Meier-Gorlin Syndrome 1
Respiratory distress, Failure to thrive, Small for gestational age, Micrognathia, Hypoplasia of t... OMIM:224690
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Micrognathia, Asplenia, Peripheral pulmonary vessel aplasia, Pul... OMIM:273395
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hypoplasia of the epiglottis, Pulmonary hypoplasia, Abnormality of the larynx OMIM:263520
Developmental And Epileptic Encephalopathy 100
Recurrent respiratory infections, Micrognathia, Synophrys, Bilateral camptodactyly, Elbow flexion... OMIM:619777
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Micrognathia, Protruding ear, Periodontitis, Chronic otitis media, Low-set... ORPHA:534
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Uveitis, Conjunctivitis, Sparse hair, Absent eyebrow, Alopecia, Abnormal dental enamel morphology... ORPHA:2273
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele, Bifid epiglottis, Micrognathia, Cryptorchidism, Respiratory insufficiency, Pulmonary... ORPHA:93271
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Recurrent abscess ... OMIM:619381
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Posteriorly rotated ears, Micrognathia, Postnatal growth retardation, Cryptorchidism, Recurrent b... OMIM:241410
Renal Agenesis
Pulmonary hypoplasia ORPHA:411709
Fraser Syndrome
Subglottic stenosis, Laryngeal stenosis, Low-set, posteriorly rotated ears, Omphalocele, Abnormal... ORPHA:2052
Lymphatic Malformation 7
Respiratory distress, Chylothorax, Pleural effusion, Anemia, Pulmonary edema OMIM:617300
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Laryngeal stenosis, Abnormality of the upper respiratory tract, Recurrent u... ORPHA:79404
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Inguinal hernia, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, ... OMIM:130050
22Q11.2 Deletion Syndrome
Micrognathia, Abnormal lung lobation, Hypoplasia of the thymus, Conductive hearing impairment, Ch... ORPHA:567
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Inguinal hernia, Pulmonary hypoplasia OMIM:271520
Hyperekplexia 1
Aspiration, Inguinal hernia, Umbilical hernia, Apnea OMIM:149400
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Acne, Abnormal hair morphology, Oligozoospermia, Macroorchidism ORPHA:3000
Restrictive Dermopathy
Natal tooth, Multiple joint contractures, Short nail, Camptodactyly of finger, Micrognathia, Spar... ORPHA:1662
Vacterl/Vater Association
Low-set, posteriorly rotated ears, Omphalocele, Congenital diaphragmatic hernia, Cryptorchidism, ... ORPHA:887
Holzgreve Syndrome
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Macrotia, Low-set, posteriorly ... ORPHA:2167
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Skin rash, Eczema, Erythema nodosum, Splenomegaly, Leukocytosis, Recurrent infectio... OMIM:615688
Goodpasture Syndrome
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Weigh... OMIM:233450
Cleft Larynx, Posterior
Aspiration, Laryngeal stridor OMIM:215800
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:99125
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Micrognathia, Postnatal growth retardation, Cryptorchidism, Severe int... ORPHA:96182
Gaucher Disease Type 3
Recurrent respiratory infections, Pancytopenia, Splenomegaly, Abnormal pulmonary interstitial mor... ORPHA:77261
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Adipose tissue loss, Flexion contracture, Premature graying of hair, Conjuncti... OMIM:256040
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Thyroiditis... ORPHA:171
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Vocal Cord And Pharyngeal Distal Myopathy
Respiratory insufficiency due to muscle weakness, Aspiration, Abnormal morphology of musculature ... ORPHA:600
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Micrognathia, Otitis media, Conductive hearing impairment, Aspiration, Short stature, Highly arch... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Micrognathia, Otitis media, Conductive hearing impairment, Aspiration, Short stature, Highly arch... ORPHA:353277
Fabry Disease
Short stature, Dyspnea, Sensorineural hearing impairment, Chronic pulmonary obstruction, Respirat... ORPHA:324
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Neonatal respiratory distress, Apnea, Flexion contracture, Corneal scarring, Stridor, Growth dela... OMIM:614653
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Alopecia, Pancytopenia, Sparse eyelashes, Short stature, Carious teeth, C... OMIM:305000
Kikuchi-Fujimoto Disease
Alopecia, Skin rash, Pustule, Myocarditis, Thrombocytopenia, Splenomegaly, Abnormal pulmonary int... ORPHA:50918
Pontine Tegmental Cap Dysplasia
Aspiration, Sensorineural hearing impairment, Failure to thrive OMIM:614688
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Recurrent respiratory infections, Apnea, Abnormality of hair texture, ... ORPHA:667
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Posteriorly rotated ears, Sensorineural hearing impairment, Knee flexion co... OMIM:618733
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Lipoatrophy, Absent eyelashes, Premature graying of hair, Sparse hair, Emphysema,... ORPHA:363618
Tetraamelia Syndrome 2
Microretrognathia, Absent nipple, Micrognathia, Hypoplastic pulmonary veins, Bilateral lung agene... OMIM:618021
Mckusick-Kaufman Syndrome
Cryptorchidism, Pulmonary hypoplasia OMIM:236700
Holoprosencephaly
Omphalocele, Failure to thrive in infancy, Highly arched eyebrow, Congenital diaphragmatic hernia... ORPHA:2162
Wrinkly Skin Syndrome
Delayed eruption of teeth, Recurrent sinopulmonary infections, Inguinal hernia, Lipodystrophy, Sh... ORPHA:2834
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Apneic episodes in infancy, C... OMIM:601803
Gaisböck Syndrome
Overweight, Splenomegaly, Dyspnea, Increased mean corpuscular hemoglobin concentration, Obesity, ... ORPHA:90041
Amyotrophic Lateral Sclerosis 21
Respiratory insufficiency due to muscle weakness, Aspiration, Bowing of the vocal cords OMIM:606070
Alpha-Mannosidosis, Infantile Form
Mandibular prognathia, Recurrent urinary tract infections, Mixed hearing impairment, Pancytopenia... ORPHA:309282
47,Xyy Syndrome
Male infertility, Cryptorchidism, Asthma, Oligozoospermia, Azoospermia, Low-set ears, Macroorchid... ORPHA:8
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Sparse scalp hair, Micrognathia, Cryptorchidism, Knee... OMIM:606170
Focal Dermal Hypoplasia
Omphalocele, Alopecia, Inguinal hernia, Abnormal dental enamel morphology, Congenital diaphragmat... ORPHA:2092
Tay-Sachs Disease
Aspiration OMIM:272800
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Spinocerebellar Ataxia Type 8
Aspiration, Impotence ORPHA:98760
Contractures-Developmental Delay-Pierre Robin Syndrome
Inguinal hernia, Micrognathia, Microtia, Abnormality of frontal sinus, Overfolded helix, Wrist fl... ORPHA:436003
Penile Agenesis
Bilateral lung agenesis, Posteriorly rotated ears, Pulmonary hypoplasia, Cryptorchidism ORPHA:49
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent infections, Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczema OMIM:613960
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Short statu... OMIM:163950
Developmental And Epileptic Encephalopathy 38
Aspiration OMIM:617020
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Sensorineural hearing impairment, Recurrent in... OMIM:300972
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Corneal scarring, Atypical scarring of skin, Recurrent Staphylococcus a... ORPHA:642
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Inguinal hernia, Abnormal pinna morphology, Congenital diaphragmati... OMIM:614437
Meacham Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormality of the spleen, Abnormal lung lobatio... ORPHA:3097
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration, Flexion contracture ORPHA:2148
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Short stature, Micrognathia, Protruding ear, Abnormality of the sphenoid sinus, Abnorm... ORPHA:363700
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Short stature, Female infertility, Cry... ORPHA:261529
Wolf-Hirschhorn Syndrome
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Highly arched eyebrow, Micro... ORPHA:280
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Pulmonary hypoplasia ORPHA:1112
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Sepsis, Gastrointestinal inflammation, Conjunctivitis, Neutropenia, Cough, ... ORPHA:95455
Autosomal Dominant Cutis Laxa
Inguinal hernia, Postnatal growth retardation, Bronchiectasis, Pyelonephritis, Protruding ear, Lo... ORPHA:90348
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Gm2-Gangliosidosis, Ab Variant
Aspiration OMIM:272750
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Recurrent otitis media, Asplenia OMIM:618948
Infantile Systemic Hyalinosis
Severe short stature, Camptodactyly of finger, Growth delay, Recurrent bacterial infections, Fail... ORPHA:2176
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Apnea, Micrognathia, Synophrys, Flexion contracture, Knee flexion contract... OMIM:619503
Marfan Syndrome
Inguinal hernia, Arthralgia/arthritis, Spontaneous pneumothorax, Cachexia, Micrognathia, Abnormal... ORPHA:558
Glycogen Storage Disease Ib
Short stature, Splenomegaly, Delayed puberty, Gout, Recurrent bacterial infections, Inflammation ... OMIM:232220
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Short stature, Small for gestatio... OMIM:227650
Complement Component 5 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease, Generalized seborrheic dermatitis OMIM:609536
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Thin eyebrow, Aspiration, Failure to thrive ORPHA:2131
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Rett Syndrome, Congenital Variant
Aspiration, Protruding ear OMIM:613454
Bilateral Perisylvian Polymicrogyria
Apnea, Micrognathia, Flexion contracture, Distal arthrogryposis, Aspiration, Intrauterine growth ... ORPHA:98889
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hepatosplenomegaly, Tubulointersti... ORPHA:85450
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Chand Syndrome
Atelectasis, Curly hair, Agenesis of maxillary incisor ORPHA:1401
Microphthalmia, Syndromic 1
Abnormal pinna morphology, Cryptorchidism, Agenesis of maxillary lateral incisor, Growth delay, P... OMIM:309800
Marfan Syndrome
Reduced subcutaneous adipose tissue, Micrognathia, Incisional hernia, Emphysema, Pneumothorax, Pr... OMIM:154700
Complete Androgen Insensitivity Syndrome
Male infertility, Acne, Testicular neoplasm, Sparse axillary hair, Bilateral cryptorchidism, Spar... ORPHA:99429
Immunodeficiency 67
Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococcal infections OMIM:607676
Ectodermal Dysplasia And Immunodeficiency 1
Severe cytomegalovirus infection, Conical incisor, Recurrent bacterial infections, Aplasia of the... OMIM:300291
Craniofacial Microsomia 1
Micrognathia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Anotia, Microtia, Pulm... OMIM:164210
Telangiectasia, Hereditary Hemorrhagic, Type 1
Spontaneous, recurrent epistaxis, Brain abscess, Pulmonary arteriovenous malformation, Dyspnea, H... OMIM:187300
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal paranasal sinus morphology, Lymphopenia OMIM:207731
Viss Syndrome
Chronic gastritis, Micrognathia, Emphysema, Microretrognathia, Alopecia, Short stature, Low-set e... OMIM:619472
Alström Syndrome
Respiratory distress, Abnormality of dental color, Hypoplasia of the Leydig cells, Otitis media, ... ORPHA:64
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
17Q11 Microdeletion Syndrome
Short stature, Abnormal lung morphology, Abnormality of the sphenoid sinus, Low-set ears, Delayed... ORPHA:97685
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Low-set, posteriorly rotated ears, Streak ovary, Unilateral cryptorchidism, Sho... ORPHA:1772
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunct... ORPHA:90797
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Sparse axillary hair, Decreased f... ORPHA:251510
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Proboscis Lateralis
Abnormal eyebrow morphology, Aplasia/Hypoplasia of the maxilla, Abnormal location of the eyebrow,... ORPHA:141099
Joubert Syndrome
Apnea, Episodic tachypnea, Highly arched eyebrow, Low-set ears, Abnormal pattern of respiration ORPHA:475

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cby1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cby1.

No publications found that use IMPC mice or data for Cby1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Cby1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cby1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Cby1tm214187(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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