Gene: Cby1 MGI:1920989

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, arb1, 1110014P06Rik, Pgea1

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.

Human diseases associated with Cby1 (1 diseases)
Human diseases predicted to be associated with Cby1 (666 diseases)

The table below shows human diseases associated to Cby1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Joubert Syndrome		Apnea, Highly arched eyebrow, Anteverted nares, Episodic tachypnea, Abnormal pattern of respirati...	ORPHA:475

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

Disease	Matching phenotypes	Source
Ciliary Dyskinesia, Primary, 14	Chronic sinusitis, Abnormal ciliary motility, Wheezing, Reduced sperm motility, Bronchiectasis, C...	OMIM:613807
Ciliary Dyskinesia, Primary, 11	Abnormal ciliary motility, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Recurrent ...	OMIM:612649
Ciliary Dyskinesia, Primary, 15	Chronic sinusitis, Infertility, Wheezing, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Ab...	OMIM:613808
Ciliary Dyskinesia, Primary, 34	Recurrent bronchitis, Reduced respiratory ciliary beating frequency, Bronchiectasis, Recurrent si...	OMIM:617091
Ciliary Dyskinesia, Primary, 12	Bronchiectasis, Ciliary dyskinesia, Immotile sperm, Chronic rhinitis, Chronic sinusitis, Short st...	OMIM:612650
Familial Nasal Acilia	Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel...	ORPHA:922
Ciliary Dyskinesia, Primary, 6	Abnormal ciliary motility, Ciliary dyskinesia, Recurrent sinusitis, Sinusitis, Abnormal respirato...	OMIM:610852
Ciliary Dyskinesia, Primary, 26	Infertility, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms...	OMIM:615500
Ciliary Dyskinesia With Excessively Long Cilia	Recurrent bronchitis, Ciliary dyskinesia, Nasal polyposis, Airway obstruction, Chronic rhinitis, ...	OMIM:242680
Ciliary Dyskinesia, Primary, 17	Bronchiectasis, Ciliary dyskinesia, Cough, Chronic rhinitis, Chronic sinusitis, Abnormal respirat...	OMIM:614679
Ciliary Dyskinesia, Primary, 18	Abnormal ciliary motility, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Rec...	OMIM:614874
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness	Recurrent Haemophilus influenzae infections, Recurrent bronchitis, High-frequency hearing impairm...	OMIM:300455
Ciliary Dyskinesia, Primary, 13	Recurrent bronchitis, Infertility, Bronchiectasis, Ciliary dyskinesia, Absent inner dynein arms, ...	OMIM:613193
Ciliary Dyskinesia, Primary, 10	Ciliary dyskinesia, Recurrent sinusitis, Chronic otitis media, Chronic sinusitis, Abnormal respir...	OMIM:612518
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Pneumonia, Neut...	OMIM:601495
Isolated Agammaglobulinemia	Skin rash, Cellulitis, Abnormality of neutrophils, Abnormal lymphocyte morphology, Pneumonia, Oti...	ORPHA:229717
Ciliary Dyskinesia, Primary, 20	Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Recurrent otit...	OMIM:615067
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Ciliary dyskinesia, Sparse scalp hair, Recurrent infections, Sparse and thin eyebrow, Abnormal re...	OMIM:225050
Ciliary Dyskinesia, Primary, 22	Infertility, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Recurre...	OMIM:615444
Agammaglobulinemia 4, Autosomal Recessive	Chronic sinusitis, Recurrent otitis media, Neutropenia, Recurrent pneumonia, Recurrent respirator...	OMIM:613502
Ciliary Dyskinesia With Defective Radial Spokes	Abnormal respiratory system physiology, Absent respiratory ciliary axoneme radial spokes, Ciliary...	OMIM:242670
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Ciliary dyskinesia, Abnormal respiratory motile cilium morphology, Recurrent sinopulmonary infect...	OMIM:215520
Ciliary Dyskinesia, Primary, 1	Chronic sinusitis, Male infertility, Bronchiectasis, Ciliary dyskinesia, Conductive hearing impai...	OMIM:244400
Agammaglobulinemia 6, Autosomal Recessive	Chronic sinusitis, Recurrent bronchitis, Recurrent otitis media, Conjunctivitis, Recurrent pneumo...	OMIM:612692
Immunodeficiency 51	Recurrent bronchitis, Folliculitis, Cutaneous abscess, Pustule, Chronic oral candidiasis, Recurre...	OMIM:613953
Scedosporiosis	Pleuritis, Pericarditis, Decreased pulmonary function, Cough, Pneumonia, Pulmonary tuberculosis, ...	ORPHA:449280
Combined Immunodeficiency, X-Linked	Recurrent bronchitis, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-p...	OMIM:312863
Ciliary Dyskinesia, Primary, 30	Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Nasal polyposis, Recurrent otitis m...	OMIM:616037
Ciliary Dyskinesia, Primary, 38	Infertility, Bronchiectasis, Conductive hearing impairment, Cough, Absent inner and outer dynein ...	OMIM:618063
Ciliary Dyskinesia, Primary, 2	Infertility, Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Absent in...	OMIM:606763
Ciliary Dyskinesia, Primary, 21	Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Atelectasis, Neona...	OMIM:615294
Ciliary Dyskinesia, Primary, 5	Recurrent bronchitis, Respiratory tract infection, Bronchiectasis, Ciliary dyskinesia, Nasal poly...	OMIM:608647
Immunodeficiency 61	Recurrent otitis media, Recurrent sinusitis, Arthritis, Recurrent bacterial infections, Frequent ...	OMIM:300310
Immunodeficiency 32B	Bronchiectasis, Pneumonia, Splenomegaly, Recurrent infections, Sinusitis, Recurrent respiratory i...	OMIM:226990
Ciliary Dyskinesia, Primary, 27	Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchit...	OMIM:615504
Mucus Inspissation Of Respiratory Tract	Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat...	OMIM:253240
Agammaglobulinemia 2, Autosomal Recessive	Meningitis, Recurrent bacterial infections, Recurrent respiratory infections, Recurrent pneumonia	OMIM:613500
Aspergillosis	Pleuritis, Bronchiectasis, Cough, Pneumonia, Neutropenia, Abnormal tracheobronchial morphology, S...	ORPHA:1163
Ciliary Dyskinesia, Primary, 25	Infertility, Chronic pulmonary obstruction, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusit...	OMIM:615482
X-Linked Agammaglobulinemia	Skin rash, Neutropenia, Weight loss, Sensorineural hearing impairment, Anemia, Sinusitis, Osteomy...	ORPHA:47
Specific Granule Deficiency 2	Recurrent pneumonia, Absent neutrophil specific granules, Recurrent otitis media, Hirsutism, Abno...	OMIM:617475
Felty Syndrome	Pleuritis, Pericarditis, Recurrent urinary tract infections, Neutropenia, Weight loss, Anemia, Si...	ORPHA:47612
Bare Lymphocyte Syndrome, Type I	Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Nasal polyposis, Chronic otitis m...	OMIM:604571
Idiopathic Bronchiectasis	Recurrent Haemophilus influenzae infections, Respiratory tract infection, Wheezing, Dyspnea, Bron...	ORPHA:60033
Ciliary Dyskinesia, Primary, 28	Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchit...	OMIM:615505
Autosomal Agammaglobulinemia	Skin rash, Osteomyelitis, Cellulitis, Bronchiectasis, Cough, Chronic otitis media, Neutropenia, M...	ORPHA:33110
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4	Apnea, Pulmonary hypoplasia	OMIM:615228
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent opportunistic infections, Recurrent pneumonia, T lymphocytopenia, Recurrent upper respi...	ORPHA:277
Ciliary Dyskinesia, Primary, 16	Abnormal ciliary motility, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Chronic ...	OMIM:614017
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Neutropenia, Short stature, Failure to thrive, Recurrent respiratory infe...	OMIM:616022
Ciliary Dyskinesia, Primary, 45	Bronchiectasis, Absent inner and outer dynein arms, Chronic rhinitis, Immotile cilia, Male infert...	OMIM:618801
Immunodeficiency By Defective Expression Of Mhc Class Ii	Skin rash, Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helpe...	ORPHA:572
Primary Ciliary Dyskinesia	Wheezing, Bronchiectasis, Nasal polyposis, Female infertility, Abnormal sperm motility, Chronic s...	ORPHA:244
Spermatogenic Failure 38	Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno...	OMIM:618433
Ciliary Dyskinesia, Primary, 19	Infertility, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis, Recurre...	OMIM:614935
Selective Igm Deficiency	Cutaneous abscess, Bronchiectasis, Recurrent urinary tract infections, Onychomycosis, Pulmonary t...	ORPHA:331235
Agammaglobulinemia 3, Autosomal Recessive	Recurrent bronchitis, Recurrent otitis media, Neutropenia, Failure to thrive, Recurrent bacterial...	OMIM:613501
Cyclic Neutropenia	Peritonitis, Respiratory tract infection, Recurrent tonsillitis, Cellulitis, Decreased eosinophil...	ORPHA:2686
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Atopic dermatitis, Recurrent upper and lower respiratory tract infections, Decreased proportion o...	ORPHA:70593
Ciliary Dyskinesia, Primary, 35	Bronchiectasis, Nasal polyposis, Cough, Chronic rhinitis, Chronic sinusitis, Recurrent respirator...	OMIM:617092
Ciliary Dyskinesia, Primary, 24	Infertility, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Rhinitis, Sinusitis	OMIM:615481
Fusariosis	Pulmonary opacity, Peritonitis, Bronchiectasis, Pneumonia, Onychomycosis, Maculopapular exanthema...	ORPHA:228119
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Flexion contracture, Postnatal growth retardation, Hearing impairment, Pulm...	OMIM:616733
Febrile Infection-Related Epilepsy Syndrome	Cough, Sinusitis	ORPHA:163703
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Weight loss, Asthma, Hemoptysis, Pul...	ORPHA:1164
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Atopic dermatitis, Recurrent fungal infections, Recurrent viral infections, Recurrent sinopulmona...	OMIM:243700
Yellow Nail Syndrome	Yellow nails, Pleuritis, Dyspnea, Bronchiectasis, Cough, Rhinitis, Neoplasm of the lung, Sinusiti...	ORPHA:662
Bronchopulmonary Dysplasia	Pulmonary sequestration, Abnormal lung morphology, Wheezing, Abnormal respiratory system morpholo...	ORPHA:70589
Cleft Lip With Or Without Cleft Palate	Hearing impairment, Recurrent otitis media, Chronic sinusitis	ORPHA:1991
Purine Nucleoside Phosphorylase Deficiency	Recurrent opportunistic infections, Pure red cell aplasia, Autoimmune thrombocytopenia, Recurrent...	OMIM:613179
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Mitochondrial Complex I Deficiency, Nuclear Type 35	Intrauterine growth retardation, Neonatal respiratory distress, Neonatal death, Pulmonary hypopla...	OMIM:619003
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Prostatitis, Epididymitis, Recurrent otitis media, Recurrent urinary tract infections, Pneumonia,...	OMIM:307200
Larsen-Like Syndrome, Lethal Type	Respiratory insufficiency, Tracheomalacia, Laryngomalacia, Neonatal death, Pulmonary hypoplasia	OMIM:245650
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Short nose, Bronchiectasis, Pneumonia, Malar flattening, Reduced natural kille...	OMIM:242860
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Camptodactyly of finger, Overfolded helix, Low-set, posteriorly rotated ears, Pulmonary hypoplasi...	ORPHA:2631
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Combined Oxidative Phosphorylation Deficiency 8	Pulmonary hypoplasia, Failure to thrive	OMIM:614096
Granulomatosis With Polyangiitis	Pleuritis, Chronic otitis media, Cough, Subglottic stenosis, Uveitis, Elevated bronchoalveolar la...	OMIM:608710
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Lethal Congenital Contracture Syndrome 11	Retrognathia, Pulmonary hypoplasia	OMIM:617194
Cd8 Deficiency, Familial	Bronchiectasis, Recurrent viral infections, Absence of CD8-positive T cells, Recurrent bacterial ...	OMIM:608957
Immunodeficiency With Hyper-Igm, Type 4	Bronchiectasis, Recurrent upper respiratory tract infections, Autoimmune thrombocytopenia, Autoim...	OMIM:608184
Bacterial Toxic-Shock Syndrome	Peritonitis, Skin rash, Recurrent urinary tract infections, Pneumonia, Sinusitis, Myocarditis, My...	ORPHA:36234
Pgm3-Cdg	Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen...	ORPHA:443811
Immunodeficiency 20	Wheezing, Recurrent otitis media, Recurrent sinusitis, Recurrent oral herpes, Severe varicella zo...	OMIM:615707
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Neutropenia, Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, ...	ORPHA:70592
Good Syndrome	Dyspnea, Bronchiectasis, Cough, Recurrent urinary tract infections, Thrombocytopenia, Anemia, Sin...	ORPHA:169105
Ciliary Dyskinesia, Primary, 41	Infertility, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent otitis media, Recurr...	OMIM:618449
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Posteriorly rotated ears, Neonatal death, Pulmonary hypoplasia, Micrognathia, ...	OMIM:224410
Immunodeficiency 15A	Cutaneous abscess, Decreased proportion of CD8-positive T cells, Decreased proportion of memory B...	OMIM:618204
Ciliary Dyskinesia, Primary, 44	Bronchiectasis, Recurrent sinusitis, Neonatal respiratory distress, Reduced forced expiratory vol...	OMIM:618781
Eosinophilic Granulomatosis With Polyangiitis	Skin rash, Endocarditis, Increased inflammatory response, Abnormal pleura morphology, Nasal polyp...	ORPHA:183
Ciliary Dyskinesia, Primary, 43	Bronchiectasis, Recurrent upper respiratory tract infections, Productive cough, Neonatal respirat...	OMIM:618699
Whim Syndrome	Respiratory tract infection, Severe periodontitis, Parotitis, Cellulitis, Bronchiectasis, Recurre...	ORPHA:51636
Rheumatic Fever	Endocarditis, Pericarditis, Abnormal pleura morphology, Epistaxis, Respiratory insufficiency, Sin...	ORPHA:3099
Atelosteogenesis, Type Ii	Stillbirth, Respiratory insufficiency, Pulmonary hypoplasia, Micrognathia, Malar flattening, Depr...	OMIM:256050
Complement Factor I Deficiency	Recurrent Haemophilus influenzae infections, Pyelonephritis, Recurrent otitis media, Recurrent si...	OMIM:610984
Primary Pulmonary Hypoplasia	Abnormal breath sound, Apnea, Restrictive ventilatory defect, Abnormal pulmonary artery morpholog...	ORPHA:2257
Immunodeficiency, Common Variable, 1	Decreased proportion of class-switched memory B cells, Recurrent bronchitis, Bronchiectasis, Recu...	OMIM:607594
Agammaglobulinemia, X-Linked	Prostatitis, Epididymitis, Recurrent urinary tract infections, Pneumonia, Pyoderma, Septic arthri...	OMIM:300755
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Arthrogryposis multiplex congenita, Camptodactyly, Flexion contracture, Pulmonary hypoplasia, Pro...	OMIM:617468
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Aplasia of the thymus, Recurrent fungal infections, Autoimmune thromboc...	OMIM:102700
Ciliary Dyskinesia, Primary, 23	Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Productive cough...	OMIM:615451
Chronic Granulomatous Disease	Chronic pulmonary obstruction, Abnormality of neutrophils, Otitis media, Meningitis, Splenomegaly...	ORPHA:379
Ciliary Dyskinesia, Primary, 36, X-Linked	Infertility, Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress, Recurrent...	OMIM:300991
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Recurrent otitis media, Recurrent sinusiti...	OMIM:613493
Ciliary Dyskinesia, Primary, 9	Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Cough, Pneumonia...	OMIM:612444
Microphthalmia, Syndromic 12	Wide nasal bridge, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Broad nasal tip, Retrog...	OMIM:615524
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Recurrent abscess formation, Necrotizing enterocoli...	OMIM:613860
Immunodeficiency, Common Variable, 4	Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia	OMIM:613494
Immunodeficiency 13	T lymphocytopenia, Bronchiectasis, Recurrent upper respiratory tract infections, Nasal polyposis,...	OMIM:615518
Ehlers-Danlos Syndrome, Classic Type, 2	Cigarette-paper scars, Atrophic scars, Recurrent sinusitis, Hernia, Hemoptysis	OMIM:130010
Combined Immunodeficiency Due To Zap70 Deficiency	Skin rash, Lymphocytosis, Recurrent bacterial skin infections, Pneumonia, Eosinophilia, Chronic o...	ORPHA:911
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Arthrogryposis multiplex congenita, Flexion contracture, Neonatal respiratory distress, Pulmonary...	OMIM:616867
Omenn Syndrome	Severe B lymphocytopenia, Recurrent fungal infections, Erythroderma, Recurrent viral infections, ...	OMIM:603554
Alpha-1-Antitrypsin Deficiency	Wheezing, Chronic pulmonary obstruction, Dyspnea, Panacinar emphysema, Chronic bronchitis	OMIM:613490
Minicore Myopathy With External Ophthalmoplegia	Increased connective tissue, Pulmonary hypoplasia, Recurrent respiratory infections, Respiratory ...	OMIM:255320
Immunodeficiency, Common Variable, 12, With Autoimmunity	Chronic pulmonary obstruction, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent sinusitis, ...	OMIM:616576
Cernunnos-Xlf Deficiency	T lymphocytopenia, Bulbous nose, Growth delay, Lymphopenia, Recurrent viral infections, Thrombocy...	ORPHA:169079
Achondrogenesis Type 2	Hearing impairment, Pulmonary hypoplasia, Cardiorespiratory arrest, Short stature	ORPHA:93296
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent herpes, Recurrent Haemophilus influenzae infections, Recurrent opportunistic infections...	ORPHA:276
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia, Anteverted nares	OMIM:613124
Thymic Aplasia With Fetal Death	Pulmonary hypoplasia, Stillbirth	OMIM:274210
Thanatophoric Dysplasia	Respiratory insufficiency, Hearing impairment, Pulmonary hypoplasia, Intrauterine growth retardat...	ORPHA:2655
Hypocomplementemic Urticarial Vasculitis	Skin rash, Restrictive ventilatory defect, Dyspnea, Pleural effusion, Emphysema, Cough, Uveitis, ...	ORPHA:36412
Whim Syndrome 1	Neutropenia, Recurrent bacterial infections, Bronchiectasis, Recurrent upper respiratory tract in...	OMIM:193670
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent bronchitis, Chronic active Epstein-Barr virus infection, Bronchiectasis, Persistent EBV...	OMIM:300853
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, BCGosis, Histoplasmosis, Severe toxoplasmosis, Lymphade...	ORPHA:319552
Proteasome-Associated Autoinflammatory Syndrome 3	Skin rash, Lymphopenia, Panniculitis, Flexion contracture, Lipodystrophy, Thrombocytopenia, Conju...	OMIM:617591
Choanal Atresia	Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Laryngomalacia, Upper airwa...	ORPHA:137914
Sarcoidosis, Susceptibility To, 2	Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em...	OMIM:612387
Mannose-Binding Lectin Deficiency	Recurrent herpes, Disseminated cryptosporidium infection, Recurrent Klebsiella infections, Recurr...	OMIM:614372
Ciliary Dyskinesia, Primary, 42	Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R...	OMIM:618695
Immunodeficiency, Common Variable, 2	Recurrent bronchitis, Bronchiectasis, Recurrent otitis media, Recurrent sinusitis, Meningitis, Co...	OMIM:240500
Autosomal Dominant Severe Congenital Neutropenia	Monocytosis, Cellulitis, Periodontitis, Lymphopenia, Leukemia, Pneumonia, Recurrent viral infecti...	ORPHA:486
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Atopic dermatitis, Recurrent bacterial skin infections, Recurrent sinusitis, C...	ORPHA:217390
Complement Factor B Deficiency	Peritonitis, Pneumonia, Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections	OMIM:615561
Leukocyte Adhesion Deficiency	Peritonitis, Bronchiectasis, Recurrent urinary tract infections, Pneumonia, Lymphocytic interstit...	ORPHA:2968
Hypophosphatasia	Emphysema, Respiratory insufficiency, Failure to thrive in infancy, Anemia, Short stature	ORPHA:436
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia, Omphalocele, Congenital diaphragmatic hernia	ORPHA:2141
Nijmegen Breakage Syndrome	Recurrent bronchitis, T lymphocytopenia, Premature ovarian insufficiency, Bronchiectasis, Macroti...	OMIM:251260
Congenital Diaphragmatic Hernia	Hypoxemia, Pulmonary hypoplasia, Respiratory distress, Congenital diaphragmatic hernia	ORPHA:2140
Fetal Akinesia Deformation Sequence	Camptodactyly of finger, Arthrogryposis multiplex congenita, Respiratory insufficiency, Posterior...	ORPHA:994
Hemidystonia-Hemiatrophy Syndrome	Rhizomelic leg shortening, Advanced pneumatization of cranial sinuses, Abnormal paranasal sinus m...	ORPHA:306741
Mucopolysaccharidosis Type 6	Recurrent upper respiratory tract infections, Chronic otitis media, Hearing impairment, Dispropor...	ORPHA:583
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Low-frequency sensorineural hearing impairment, Recurrent upper respiratory tra...	OMIM:613101
Fragile X Syndrome	Mandibular prognathia, Chronic otitis media, Protruding ear, Sinusitis, Otitis media	ORPHA:908
Hydrocephalus With Associated Malformations	Intrauterine growth retardation, Omphalocele, Pulmonary hypoplasia, Micrognathia	OMIM:236640
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Bronchiectasis, Eczematoid dermatitis, Emphysema, Lymphopenia, Pyoderma, R...	OMIM:242700
Combined Immunodeficiency Due To Crac Channel Dysfunction	Amelogenesis imperfecta, Hemolytic anemia, Recurrent fungal infections, Chronic otitis media, Rec...	ORPHA:169090
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Arthrogryposis multiplex congenita, Bulbous nose, Stillbirth, Microretrognathia, Neonatal death, ...	OMIM:236500
Tonne-Kalscheuer Syndrome	Growth delay, Wide nasal bridge, Malar flattening, Pulmonary hypoplasia, Short stature, Congenita...	OMIM:300978
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Anemia, Splenomegaly, Micrognathia	ORPHA:1046
Shwachman-Diamond Syndrome	Skin rash, Carious teeth, Pneumonia, Neutropenia, Pancytopenia, Leukopenia, Sinusitis, Anemia, Ec...	ORPHA:811
Riddle Syndrome	Chronic sinusitis, Restrictive ventilatory defect, Pulmonary fibrosis, Recurrent sinusitis, Pneum...	ORPHA:420741
Microsporidiosis	Peritonitis, Bronchiolitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Pne...	ORPHA:2552
Keutel Syndrome	Recurrent bronchitis, Macrotia, Emphysema, Recurrent otitis media, Peripheral pulmonary artery st...	OMIM:245150
Granulomatosis With Polyangiitis	Skin rash, Pleuritis, Pericarditis, Cough, Respiratory insufficiency, Weight loss, Sensorineural ...	ORPHA:900
Surfactant Metabolism Dysfunction, Pulmonary, 3	Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase...	OMIM:610921
Odontochondrodysplasia 1	Delayed eruption of teeth, Respiratory distress, Mesomelic short stature, Pulmonary hypoplasia, S...	OMIM:184260
Renal Tubular Dysgenesis	Pulmonary hypoplasia	ORPHA:3033
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Pulmonary interstitial lymphocyte infiltration, Thyroiditis, Failure to thrive in infancy, Eczema...	OMIM:606367
Mucopolysaccharidosis Type 1	Generalized hirsutism, Apnea, Low anterior hairline, Cough, Chronic otitis media, Hearing impairm...	ORPHA:579
Nphp3-Related Meckel-Like Syndrome	Pulmonary hypoplasia	ORPHA:3032
Ciliary Dyskinesia, Primary, 3	Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Recurrent sinusitis, Neonatal respira...	OMIM:608644
Cystic Fibrosis	Chronic sinusitis, Male infertility, Reduced forced vital capacity, Bronchiectasis, Nasal polypos...	OMIM:219700
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Bronchiectasis, Abnormally low T cell receptor excision circle level, Neutropenia, Pancytopenia, ...	OMIM:618986
Birt-Hogg-Dubé Syndrome	Pulmonary sequestration, Emphysema, Multiple lipomas, Pneumothorax	ORPHA:122
Wiskott-Aldrich Syndrome, Autosomal Dominant	Inflammation of the large intestine, Iron deficiency anemia, Decreased mean platelet volume, Hemo...	OMIM:600903
Tularemia	Abnormal nasopharyngeal adenoid morphology, Skin rash, Cutaneous abscess, Respiratory distress, L...	ORPHA:3392
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Testicular atrophy, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Anteverte...	OMIM:601163
Spondylospinal Thoracic Dysostosis	Micrognathia, Arthrogryposis multiplex congenita, Pulmonary hypoplasia, Hypoplasia of the maxilla	OMIM:601809
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Omphalocele, Pulmonary hypoplasia, Respiratory failure, Depressed nasal bridge	OMIM:617895
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Tracheal atresia, Respiratory insufficiency	ORPHA:3346
Pulmonary Hemosiderosis	Iron deficiency anemia, Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary h...	OMIM:178550
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair quantity, ...	ORPHA:238468
Maternal Uniparental Disomy Of Chromosome 2	Respiratory infections in early life, Chordee, Contractures of the large joints, Postnatal growth...	ORPHA:96179
Kagami-Ogata Syndrome	Hypoplasia of the maxilla, Flexion contracture, Omphalocele, Laryngomalacia, Inguinal hernia, Pul...	OMIM:608149
Cutis Laxa-Marfanoid Syndrome	Emphysema, Flexion contracture, Congenital diaphragmatic hernia	ORPHA:171719
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Erythroid hypoplasia, Monocytosis, Growth delay, Lymphopenia, Neutropenia, Respiratory insufficie...	OMIM:612541
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Skin rash, Recurrent fungal infections, Recurrent Staphylococcus aureus infections, Eczematoid de...	OMIM:147060
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent up...	OMIM:605258
Laryngotracheoesophageal Cleft	Dyspnea, Cough, Recurrent respiratory infections, Laryngeal cleft, Laryngomalacia, Neonatal respi...	ORPHA:2004
Immunodeficiency 36	Bronchiectasis, Growth delay, Lymphopenia, Chronic lymphatic leukemia, Splenomegaly, Short statur...	OMIM:616005
Gillessen-Kaesbach-Nishimura Syndrome	Frontotemporal hypertrichosis, Underdeveloped nasal alae, Flexion contracture, Omphalocele, Poste...	OMIM:263210
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1	Myeloid leukemia, Dyspnea, Reticular pattern on pulmonary HRCT, Premature graying of hair, Pulmon...	OMIM:614742
Cutis Laxa, Autosomal Recessive, Type Ic	Micrognathia, Emphysema, Growth delay, Tracheomalacia, Wide nasal bridge, Laryngomalacia, Umbilic...	OMIM:613177
1Q41Q42 Microdeletion Syndrome	Underdeveloped nasal alae, Hypergonadotropic hypogonadism, Growth delay, Hyposegmentation of neut...	ORPHA:250999
Trimethylaminuria	Splenomegaly, Neutropenia, Anemia, Recurrent pneumonia	OMIM:602079
Immunodeficiency 35	Recurrent viral infections, Recurrent fungal infections, Recurrent mycobacterial infections, Recu...	OMIM:611521
Pallister-Hall-Like Syndrome	Micrognathia, Pulmonary hypoplasia, Short nose, Depressed nasal bridge	OMIM:241800
Cleidocranial Dysplasia	Delayed eruption of teeth, Carious teeth, Sleep apnea, Abnormal dental enamel morphology, Mandibu...	ORPHA:1452
Congenital Lobar Emphysema	Emphysema, Respiratory distress	ORPHA:1928
Wiskott-Aldrich Syndrome	Chronic leukemia, Neutropenia, Anemia, Sinusitis, Eczema, Acute leukemia, Otitis media, Epistaxis...	ORPHA:906
Tetrasomy 5P	Short nose, Respiratory distress, Lipoma of corpus callosum, Postnatal growth retardation, Wide n...	ORPHA:3309
Igg4-Related Pachymeningitis	Abnormal lung morphology, Dyspnea, Lymphadenitis, Pancreatitis, Sinusitis, Nephritis, Eosinophili...	ORPHA:449427
Genitopatellar Syndrome	Apnea, Delayed eruption of teeth, Arthrogryposis multiplex congenita, Sparse scalp hair, Hearing ...	ORPHA:85201
Diaphanospondylodysostosis	Short nose, Respiratory distress, Respiratory insufficiency, Tracheomalacia, Disproportionate sho...	OMIM:608022
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Recurrent opportunistic infections, Skin rash, Chronic oral candidiasis, Recurrent gastroenteriti...	ORPHA:275
Ataxia-Telangiectasia	Recurrent bronchitis, T lymphocytopenia, Bronchiectasis, Abnormal hair morphology, Decreased prop...	OMIM:208900
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Congenital diaphragmatic hernia	OMIM:614100
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short nose, Pleural effusion, Flexion contracture, Wide nasal bridge, Posteriorly rotated ears, P...	OMIM:616897
Severe Congenital Nemaline Myopathy	Arthrogryposis multiplex congenita, Increased connective tissue, Flexion contracture, Pulmonary h...	ORPHA:171430
Diffuse Alveolar Hemorrhage	Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Leukocyt...	ORPHA:90060
Microscopic Polyangiitis	Peritonitis, Skin rash, Pericarditis, Increased inflammatory response, Uveitis, Epistaxis, Sinusi...	ORPHA:727
Pericardial And Diaphragmatic Defect	Pulmonary sequestration, Aplasia of the left hemidiaphragm, Neonatal respiratory distress, Pulmon...	ORPHA:2847
Bare Lymphocyte Syndrome, Type Ii	Recurrent fungal infections, Recurrent upper respiratory tract infections, Viral hepatitis, Recur...	OMIM:209920
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Pulmonary hypoplasia, Respiratory failure, Respiratory insu...	OMIM:602088
Immunodeficiency 27A	Thrombocytosis, Increased inflammatory response, Leukocytosis, Salmonella osteomyelitis, Pneumoni...	OMIM:209950
Lethal Congenital Contracture Syndrome Type 1	Micrognathia, Low-set, posteriorly rotated ears, Pulmonary hypoplasia, Short stature	ORPHA:1486
Lethal Congenital Contracture Syndrome 1	Micrognathia, Arthrogryposis multiplex congenita, Neonatal death, Pulmonary hypoplasia	OMIM:253310
Common Variable Immunodeficiency	Recurrent bronchitis, Restrictive ventilatory defect, Hemolytic anemia, Bronchiectasis, Autoimmun...	ORPHA:1572
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Tracheal atresia, Respiratory insufficiency	OMIM:601612
Renal Tubular Dysgenesis	Pulmonary hypoplasia, Respiratory insufficiency	OMIM:267430
Alpha-1-Antitrypsin Deficiency	Emphysema, Hepatitis	ORPHA:60
Zygomycosis	Peritonitis, Pericarditis, Cough, Neutropenia, Myocarditis, Sinusitis, Air crescent sign, Endocar...	ORPHA:73263
Esophageal Atresia	Esophagitis, Restrictive ventilatory defect, Episodic respiratory distress, Chronic pulmonary obs...	ORPHA:1199
Autoimmune Lymphoproliferative Syndrome, Type Iii	Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon...	OMIM:615559
Myelolymphatic Insufficiency	Hyposegmentation of neutrophil nuclei, Recurrent viral infections, Leukopenia, Recurrent bacteria...	OMIM:310350
Netherton Syndrome	Skin rash, Abnormal hair morphology, Erythroderma, Emphysema, Sparse scalp hair, Recurrent infect...	ORPHA:634
Pulmonary Alveolar Proteinosis, Acquired	Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C...	OMIM:610910
Eosinophilia, Familial	Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Anemia, Pulmonary infiltrates, Eosinophilia	OMIM:131400
Surfactant Metabolism Dysfunction, Pulmonary, 2	Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy...	OMIM:610913
Immunodeficiency 23	Allergic rhinitis, Hemolytic anemia, Bronchiectasis, Recurrent Staphylococcus aureus infections, ...	OMIM:615816
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hirsutism, Flexion contracture, Severe short stature, Respiratory insufficiency, Posteriorly rota...	ORPHA:1865
Congenital Hypothyroidism	Abnormal hair morphology, Umbilical hernia, Abnormality of reproductive system physiology, Hearin...	ORPHA:442
Lissencephaly Type Iii And Bone Dysplasia	Arthrogryposis multiplex congenita, Pulmonary hypoplasia	OMIM:601160
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema, Short stature	OMIM:210050
Anti-Glomerular Basement Membrane Disease	Cough, Respiratory insufficiency, Persistence of primary teeth, Anemia, Hemoptysis, Pulmonary inf...	ORPHA:375
Jeune Syndrome	Aplasia/Hypoplasia of the lungs, Short stature, Respiratory insufficiency	ORPHA:474
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Highly arched eyebrow, Synophrys, Wide nasal bridge, Pulmonary hypoplasia, Pulmonary artery atres...	OMIM:618316
Bloom Syndrome	Skin rash, Severe toxoplasmosis, Recurrent urinary tract infections, Pneumonia, Small for gestati...	ORPHA:125
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bact...	OMIM:613496
Immunodeficiency, Common Variable, 8, With Autoimmunity	Bronchiectasis, Thyroiditis, Pneumonia, Pancytopenia, Decreased proportion of class-switched memo...	OMIM:614700
Hermansky-Pudlak Syndrome 2	Carious teeth, Albinism, Chronic oral candidiasis, Pulmonary fibrosis, Recurrent otitis media, Pe...	OMIM:608233
Immunodeficiency 46	Intermittent thrombocytopenia, Chronic oral candidiasis, Neutropenia, Recurrent sinopulmonary inf...	OMIM:616740
Microphthalmia, Syndromic 9	Hypoplastic spleen, Respiratory insufficiency, Wide nasal bridge, Intrauterine growth retardation...	OMIM:601186
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections	ORPHA:1548
Stuve-Wiedemann Syndrome	Apnea, Abnormal dental enamel morphology, Contracture of the proximal interphalangeal joint of th...	OMIM:601559
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Stomatitis	OMIM:618307
Keutel Syndrome	Underdeveloped nasal alae, Recurrent otitis media, Recurrent sinusitis, Tracheal atresia, Hearing...	ORPHA:85202
Reticular Dysgenesis	Skin rash, Abnormality of neutrophils, Chronic otitis media, Weight loss, Hearing impairment, Fai...	ORPHA:33355
Matthew-Wood Syndrome	Abnormal lung morphology, Abnormal spleen morphology, Pulmonary hypoplasia, Failure to thrive, Co...	ORPHA:2470
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies	Respiratory tract infection, Mandibular prognathia, Respiratory insufficiency, Failure to thrive ...	OMIM:618975
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Abnormality of the pinna, Neonatal death, Pulmonary hypoplasia, Depressed n...	OMIM:231680
Gaucher Disease, Type Ii	Apnea, Trismus, Thrombocytopenia, Splenomegaly, Anemia, Failure to thrive, Recurrent aspiration p...	OMIM:230900
Surfactant Metabolism Dysfunction, Pulmonary, 4	Ground-glass opacification, Restrictive ventilatory defect, Intraalveolar phospholipid accumulati...	OMIM:300770
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Recurrent candida infections, Recurrent bacterial infections	OMIM:242870
Immunodeficiency 31B	Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections	OMIM:613796
Autosomal Dominant Cutis Laxa	Emphysema, Hernia, Inguinal hernia, Umbilical hernia	ORPHA:90348
Complement Component 7 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:610102
Lacrimal Duct Defect	Conjunctivitis, Sinusitis	OMIM:149700
Poikiloderma With Neutropenia	Recurrent otitis media, Recurrent sinusitis, Neutropenia, Conjunctivitis, Splenomegaly, Short sta...	OMIM:604173
Autosomal Recessive Multiple Pterygium Syndrome	Camptodactyly of finger, Arthrogryposis multiplex congenita, Low posterior hairline, Conductive h...	ORPHA:2990
Dysplastic Cortical Hyperostosis	Aplasia/Hypoplasia of the lungs, Short stature, Splenomegaly	ORPHA:2204
Cutis Laxa, Autosomal Dominant 1	Emphysema, Inguinal hernia	OMIM:123700
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections	OMIM:308220
Nocardiosis	Peritonitis, Cutaneous abscess, Pleuritis, Pericarditis, Thyroiditis, Pneumonia, Weight loss, Ost...	ORPHA:31204
Mirage Syndrome	Hypergonadotropic hypogonadism, Hypoplastic spleen, Lymphopenia, Recurrent urinary tract infectio...	OMIM:617053
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Recurrent upper and lower respiratory tract infections, Recurrent bacterial infections	OMIM:608106
Meier-Gorlin Syndrome 4	Breast hypoplasia, Emphysema, Birth length less than 3rd percentile, Failure to thrive, Short sta...	OMIM:613804
Multiple Pterygium Syndrome, X-Linked	Intrauterine growth retardation, Flexion contracture, Pulmonary hypoplasia, Micrognathia	OMIM:312150
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pulmonary hemorrhage, T lymphocytopenia, Recurrent gastroenteritis, Pulmonary fibrosis, Recurrent...	ORPHA:79124
Prolidase Deficiency	Low posterior hairline, Short nose, Thrombocytopenia, Crusting erythematous dermatitis, Chronic l...	OMIM:170100
Renal-Hepatic-Pancreatic Dysplasia 2	Stillbirth, Pulmonary hypoplasia, Asplenia	OMIM:615415
Bone Dysplasia, Lethal Holmgren Type	Severe short-limb dwarfism, Rhizomelia, Weight loss, Respiratory insufficiency, Hernia, Failure t...	ORPHA:1842
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Pulmonary hypoplasia, Splenomegaly, Intrauterine growth retardation, Micrognathia	ORPHA:3035
Platyspondylic Dysplasia, Torrance Type	Pulmonary hypoplasia, Malar flattening, Disproportionate short-limb short stature, Depressed nasa...	ORPHA:85166
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Thrombocytosis, Megaloblastic anemia, Lymphopenia, Septic arthritis, Pancytopenia, Hearing impair...	OMIM:617780
Achondrogenesis	Short nose, Severe short stature, Umbilical hernia, Inguinal hernia, Aplasia/Hypoplasia of the lu...	ORPHA:932
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Recurrent fungal infections, Lymphopenia, Recurrent viral infections, Neutropenia, Recurrent bact...	OMIM:614868
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Skin rash, Recurrent fungal infections, Recurrent upper and lower respiratory tract infections, L...	ORPHA:331206
Amoebiasis Due To Free-Living Amoebae	Respiratory tract infection, Pustule, Increased red blood cell count, Unusual skin infection, Pne...	ORPHA:68
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Arthrogryposis multiplex congenita, Microretrognathia, Flexion contracture, Neonatal respiratory ...	OMIM:616866
Tarp Syndrome	Prominent antihelix, Apnea, Small earlobe, Abnormality of the antihelix, Low-set, posteriorly rot...	ORPHA:2886
Serkal Syndrome	Growth delay, Pulmonary hypoplasia, Congenital diaphragmatic hernia	ORPHA:139466
Interstitial Lung And Liver Disease	Intraalveolar phospholipid accumulation, Dyspnea, Cough, Respiratory insufficiency, Abnormal pulm...	OMIM:615486
Marden-Walker Syndrome	Camptodactyly, Congenital contracture, Postnatal growth retardation, Inguinal hernia, Pulmonary h...	OMIM:248700
Achondrogenesis Type 1B	Disproportionate short stature, Short nose, Severe short stature, Umbilical hernia, Aplasia/Hypop...	ORPHA:93298
Multiple Pterygium Syndrome, Lethal Type	Intrauterine growth retardation, Flexion contracture, Pulmonary hypoplasia, Micrognathia	OMIM:253290
Griscelli Syndrome, Type 2	Hemophagocytosis, Melanin pigment aggregation in hair shafts, Silver-gray hair, Recurrent bacteri...	OMIM:607624
Renal Dysplasia-Limb Defects Syndrome	Respiratory distress, Abnormality of the pinna, Neonatal death, Pulmonary hypoplasia, Respiratory...	OMIM:266910
Sting-Associated Vasculopathy, Infantile-Onset	Skin rash, Pustule, Thrombocytosis, Sparse hair, Pulmonary fibrosis, Lymphopenia, Malar rash, Rec...	OMIM:615934
Immunodeficiency 14B, Autosomal Recessive	Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Recurrent sinusit...	OMIM:619281
Aphalangy With Hemivertebrae	Pulmonary hypoplasia	OMIM:207620
Eye Defects-Arachnodactyly-Cardiopathy Syndrome	Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the lungs, Sh...	ORPHA:2725
Immunodeficiency 56	Chronic hepatitis due to cryptosporidium infection, Bronchiectasis, Recurrent sinusitis, Pneumoni...	OMIM:615207
Surfactant Metabolism Dysfunction, Pulmonary, 1	Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Misalignment of the p...	OMIM:265120
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Macrotia, Microretrognathia, Rhizomelia, Natal tooth, Omphalocele, Respiratory insufficiency, Pul...	OMIM:616300
Renal Hypodysplasia/Aplasia 1	Retrognathia, Pulmonary hypoplasia, Primary amenorrhea	OMIM:191830
Greenberg Dysplasia	Tracheal calcification, Stillbirth, Hypoplasia of the maxilla, Pleural effusion, Rhizomelia, Extr...	OMIM:215140
Immunodeficiency 34	Severe recurrent varicella, Recurrent mycobacterial infections	OMIM:300645
Igg4-Related Kidney Disease	Prostatitis, Abnormal lung morphology, Pleuritis, Pericarditis, Arteritis, Interstitial pneumonit...	ORPHA:449395
Tempi Syndrome	Increased hematocrit, Polycythemia, Abnormality of the pulmonary vasculature, Hypoxemia, Transuda...	ORPHA:284227
Immunodeficiency 30	Recurrent infections, Recurrent mycobacterial infections	OMIM:614891
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Camptodactyly of finger, Abnormal pleura morphology, Aplasia/Hypoplasia of the lungs, Multiple jo...	ORPHA:2570
Immunodeficiency 12	Growth delay, Recurrent viral infections, Recurrent bacterial infections	OMIM:615468
Fanconi Renotubular Syndrome 5	Emphysema, Decreased DLCO, Lung adenocarcinoma, Pulmonary fibrosis	OMIM:618913
Spermatogenic Failure 5	Male infertility, Functional abnormality of male internal genitalia	OMIM:243060
Immunodeficiency, Common Variable, 10	Recurrent otitis media, Recurrent sinusitis, Recurrent oral herpes, Onychomycosis, Alopecia total...	OMIM:615577
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Sclerosing cholangitis, Stomatitis, Neutropenia, Thrombocytopenia, Meningitis, ...	OMIM:308230
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Decreased proportion of CD4-positive helper T cells, Recurrent urinary tract infections, Hypertri...	ORPHA:221139
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Peritonitis, Elevated pulmonary artery pressure, Pyelonephritis, Respiratory failure requiring as...	OMIM:619351
Joubert Syndrome 21	Apnea, Dyspnea, Pulmonary hypoplasia, Sensorineural hearing impairment, Single naris	OMIM:615636
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Achondrogenesis Type 1A	Short nose, Severe short stature, Umbilical hernia, Aplasia/Hypoplasia of the lungs, Femoral hern...	ORPHA:93299
Raine Syndrome	Enamel hypoplasia, Highly arched eyebrow, Arthrogryposis multiplex congenita, Short nose, Mandibu...	OMIM:259775
Takayasu Arteritis	Increased inflammatory response, Weight loss, Anemia, Abnormal pattern of respiration, Pulmonary ...	ORPHA:3287
Thanatophoric Dysplasia Type 2	Respiratory insufficiency, Hearing impairment, Aplasia/Hypoplasia of the lungs, Short stature, De...	ORPHA:93274
Craniosynostosis, Herrmann-Opitz Type	Abnormality of the antihelix, Short nose, Aplasia/Hypoplasia of the lungs, Short stature, Intraut...	ORPHA:2145
Lethal Congenital Contracture Syndrome 10	Omphalocele, Hypoplasia of the thymus, Pulmonary hypoplasia, Intrauterine growth retardation, Mic...	OMIM:617022
Bone Marrow Failure Syndrome 4	Rhizomelia, Thrombocytopenia, Short stature, Leukopenia, Anemia, Eczema, Recurrent respiratory in...	OMIM:618116
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Cellulitis, Recurrent Staphylococcus aureus infections, Recurre...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Cellulitis, Recurrent Staphylococcus aureus infections, Recurre...	OMIM:233710
Cleft Larynx, Posterior	Aspiration, Laryngeal stridor	OMIM:215800
Multiple Pterygium Syndrome, Escobar Variant	Arthrogryposis multiplex congenita, Camptodactyly of toe, Conductive hearing impairment, Umbilica...	OMIM:265000
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent tonsillitis, Hemolytic anemia, Pulmonary fibrosis, Lymphadenitis, Pleural effusion, Lym...	OMIM:618935
Igg4-Related Ophthalmic Disease	Prostatitis, Abnormality of the sphenoid sinus, Abnormal lung morphology, Thyroiditis, Orchitis, ...	ORPHA:449563
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Hypoplastic helices, Low-set, posteriorly rotated ears, Apla...	ORPHA:2437
Distal Tetrasomy 15Q	Micrognathia, Camptodactyly, Flexion contracture, Cupped ear, Pulmonary hypoplasia, Sensorineural...	ORPHA:314588
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Camptodactyly, Choanal atresia, Wide nasal bridge, Posteriorly rotated...	OMIM:619148
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Cellulitis, Recurrent Staphylococcus aureus infections, Recurre...	OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Cellulitis, Recurrent Staphylococcus aureus infections, Recurre...	OMIM:233690
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Pulmonary hypoplasia, Hypoplasia of the zygomatic bone, Congen...	ORPHA:958
Congenital Disorder Of Glycosylation, Type Iif	Pulmonary hemorrhage, Neutropenia, Macrothrombocytopenia, Thrombocytopenia, Recurrent bacterial i...	OMIM:603585
Surfactant Metabolism Dysfunction, Pulmonary, 5	Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal...	OMIM:614370
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Scimitar Syndrome	Pulmonary sequestration, Anomalous pulmonary venous return, Abnormal lung morphology, Respiratory...	ORPHA:185
Metatropic Dysplasia	Camptodactyly of finger, Low-set, posteriorly rotated ears, Severe short stature, Aplasia/Hypopla...	ORPHA:2635
Specific Granule Deficiency 1	Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo...	OMIM:245480
Microcephaly-Micromelia Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia, Micrognathia, Wide nose	OMIM:251230
Opitz Gbbb Syndrome, Type Ii	Hiatus hernia, Aspiration, Conductive hearing impairment, Widow's peak, Laryngeal cleft, Umbilica...	OMIM:145410
Omenn Syndrome	Aplasia/Hypoplasia of the eyebrow, Leukocytosis, Thyroiditis, Erythroderma, Abnormal lymphocyte m...	ORPHA:39041
Lymphoproliferative Syndrome 1	Persistent EBV viremia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Pleural effusio...	OMIM:613011
Meier-Gorlin Syndrome 6	Short nose, Underdeveloped nasal alae, Conductive hearing impairment, Microretrognathia, Emphysem...	OMIM:616835
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Boomerang Dysplasia	Omphalocele, Aplasia/Hypoplasia of the lungs, Severe short-limb dwarfism	ORPHA:1263
Acute Promyelocytic Leukemia	Exertional dyspnea, Leukocytosis, Epistaxis, Weight loss, Productive cough, Diffuse alveolar hemo...	ORPHA:520
Short-Rib Thoracic Dysplasia 12	Natal tooth, Abnormality of the pinna, Respiratory insufficiency, Atelectasis, Posteriorly rotate...	OMIM:269860
Spermatogenic Failure 46	Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel...	OMIM:619095
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Restrictive ventilatory defect, Carious teeth, Short nose, Respiratory distress, Atrophic scars, ...	ORPHA:536467
Atelosteogenesis Type Ii	Laryngeal cartilage malformation, Rhizomelia, Camptodactyly, Laryngeal stenosis, Rhizomelic arm s...	ORPHA:56304
Chédiak-Higashi Syndrome	Skin rash, Vacuolated lymphocytes, Recurrent bacterial skin infections, Large clumps of pigment i...	ORPHA:167
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Sparse hair, Pulmonary hypoplasia, Short stature, Aplasia/Hypoplasia of the eyebrow, Fine hair	OMIM:614091
Amyotrophic Lateral Sclerosis 21	Aspiration, Abnormal nasopharynx morphology, Respiratory insufficiency due to muscle weakness, Bo...	OMIM:606070
Autoimmune Pulmonary Alveolar Proteinosis	Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Crackles...	ORPHA:747
Atelosteogenesis Type I	Rhizomelia, Laryngotracheal stenosis, Laryngeal stenosis, Pulmonary hypoplasia, Neonatal short-tr...	ORPHA:1190
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Intrauterine growth retardation, Arthrogryposis multiplex congenita, Pulmonary hypoplasia	ORPHA:86822
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Stillbirth, Flexion contracture, Umbilical hernia, Mild intrauterine growth retardation, Hearing ...	OMIM:308050
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Seborrheic dermatitis, Respiratory distress, Underdeveloped nasal alae,...	ORPHA:83617
Leukocyte Adhesion Deficiency, Type Iii	Leukocytosis, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Anemia, Recurrent bacterial ...	OMIM:612840
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Abnormal sputum, Acute colitis, Dyspnea, Constrictive pericarditis, Leukocytosis, P...	ORPHA:67
Opitz Gbbb Syndrome, Type I	Abnormal nasopharynx morphology, Widow's peak, Posterior pharyngeal cleft, Wide nasal bridge, Ant...	OMIM:300000
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Respiratory insufficiency, Pulmonary hypoplasia, Short stature,...	OMIM:208500
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu...	ORPHA:217563
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Short nose, Hypoplastic frontal sinuses, Abnormality of the pinna, Ompha...	ORPHA:90652
Autoinflammation With Infantile Enterocolitis	Skin rash, Diffuse alveolar hemorrhage, Meningitis, Pancytopenia, Thrombocytopenia, Splenomegaly,...	OMIM:616050
Chromomycosis	Abnormal lung morphology, Atypical scarring of skin, Keratitis, Keratoconjunctivitis sicca, Recur...	ORPHA:182
Meier-Gorlin Syndrome 7	Growth delay, Choanal atresia, Decreased body weight, Hearing impairment, Pulmonary hypoplasia, S...	OMIM:617063
Spermatogenic Failure 43	Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra...	OMIM:618751
Spermatogenic Failure 49	Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ...	OMIM:619144
Spermatogenic Failure 45	Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ...	OMIM:619094
Whipple Disease	Pleuritis, Pericarditis, Erectile dysfunction, Cough, Uveitis, Respiratory insufficiency, Splenom...	ORPHA:3452
Autosomal Recessive Polycystic Kidney Disease	Spontaneous pneumothorax, Hypoventilation, Growth delay, Recurrent urinary tract infections, Thro...	ORPHA:731
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Respiratory insufficiency	OMIM:618042
Neutropenia, Severe Congenital, X-Linked	Neutropenia, Recurrent bacterial infections	OMIM:300299
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Pulmonary hypoplasia, Splenomegaly	OMIM:263200
Vocal Cord And Pharyngeal Distal Myopathy	Aspiration, Abnormal morphology of musculature of pharynx, Respiratory insufficiency due to muscl...	ORPHA:600
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Recurrent bronchitis, Bronchiectasis, Recurrent upper respiratory tract...	ORPHA:293978
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Pulmonary hypoplasia, Bilateral lung agenesis, Pulmonary artery stenosis, Congenital diaphragmati...	OMIM:611812
Gaucher Disease, Type I	Dyspnea, Epistaxis, Abnormal pulmonary interstitial morphology, Pancytopenia, Thrombocytopenia, S...	OMIM:230800
Mosaic Trisomy 1	Camptodactyly of finger, Microretrognathia, Abnormality of the pinna, Omphalocele, Wide nasal bri...	ORPHA:1692
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona...	ORPHA:99050
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Anomalous pulmonary venous return, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Ab...	ORPHA:1120
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Short nose, Overfolded helix, Micrognathia, Posteriorly rotated ears, Cupped ear, Pulmonary hypop...	OMIM:614080
Fontaine Progeroid Syndrome	Mandibular prognathia, Coarse hair, Respiratory insufficiency, Small for gestational age, Hypertr...	OMIM:612289
Spermatogenic Failure, X-Linked, 3	Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile...	OMIM:301059
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Recurrent sinusitis, Perioral eczema, Colitis, Recurrent infections, Recurrent aphthous stomatitis	OMIM:613960
Neu-Laxova Syndrome	Arthrogryposis multiplex congenita, Abnormal hair morphology, Macrotia, Abnormal eyelash morpholo...	ORPHA:2671
Acrocephalopolydactylous Dysplasia	Short nose, Polysplenia, Abnormality of the pinna, Omphalocele, Pulmonary hypoplasia, Extrapulmon...	OMIM:200995
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Restrictive ventilatory defect, Dyspnea, Iridocyclitis, Bron...	OMIM:181000
Vici Syndrome	Hypopigmentation of hair, Albinism, Recurrent fungal infections, Growth delay, Decreased proporti...	OMIM:242840
Diamond-Blackfan Anemia 10	Respiratory distress, Conductive hearing impairment, Growth delay, Atresia of the external audito...	OMIM:613309
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Increased connective tissue, Abnormality of the temporomandibular joint, Flexion...	ORPHA:258
Autosomal Recessive Amelia	Micrognathia, Aplasia/Hypoplasia of the lungs	ORPHA:1027
Deafness-Infertility Syndrome	Abnormal spermatogenesis, Male infertility, Reduced sperm motility, Bilateral sensorineural heari...	OMIM:611102
Peroxisome Biogenesis Disorder 1A (Zellweger)	Malar flattening, Posteriorly rotated ears, Pulmonary hypoplasia, Sensorineural hearing impairmen...	OMIM:214100
Cutis Laxa, Autosomal Recessive, Type Ia	Emphysema, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Recurrent respirat...	OMIM:219100
Tetraploidy	Intrauterine growth retardation, Aplasia/Hypoplasia of the lungs, Hypoplasia of the ear cartilage...	ORPHA:3305
Letterer-Siwe Disease	Seborrheic dermatitis, Dyspnea, Stomatitis, Neutropenia, Thrombocytopenia, Anemia, Pulmonary infi...	OMIM:246400
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Failure to thrive, Pulmonary hypoplasia, Short stature, Depressed nasal bridge	OMIM:615503
Congenital Enterovirus Infection	Skin rash, Respiratory distress, Leukocytosis, Pleural effusion, Abnormal macrophage morphology, ...	ORPHA:292
Spermatogenic Failure 40	Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,...	OMIM:618664
Acute Myelomonocytic Leukemia	Dyspnea, Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Eosinophilia	ORPHA:517
Q Fever	Endocarditis, Respiratory distress, Pericarditis, Pleural effusion, Cough, Cholecystitis, Pneumon...	ORPHA:781
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal lung morphology, Weight loss, Anemia, Neutrophilia, Brain abscess	ORPHA:54251
Congenital Rubella Syndrome	Skin rash, Intrauterine growth retardation, Thrombocytopenia, Sensorineural hearing impairment, S...	ORPHA:290
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation	Infertility, Megaloblastic anemia, Emphysema, Wide nasal bridge, Recurrent bronchopulmonary infec...	OMIM:219721
Schinzel-Giedion Syndrome	Camptodactyly, Abnormality of the stapes, Failure to thrive in infancy, Abnormality of the helix,...	ORPHA:798
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Enamel hypoplasia, Carious teeth, Increased connective tissue, Scarring alopecia of scalp, Puncta...	OMIM:226670
Oligomeganephronia	Pulmonary venous occlusion, Hearing impairment, Pulmonary hypoplasia, Small for gestational age, ...	ORPHA:2260
Lethal Congenital Contracture Syndrome 9	Congenital contracture, Pulmonary hypoplasia, Intrauterine growth retardation, Micrognathia, Ante...	OMIM:616503
Congenital unilateral pulmonary hypoplasia	Abnormality of the pulmonary artery, Anomalous pulmonary venous return, Aplasia/Hypoplasia of the...	ORPHA:2258
Oculoauriculovertebral Spectrum With Radial Defects	Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au...	ORPHA:2549
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A...	OMIM:202700
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Posteriorly rotated ears, Inguinal hernia, Aplasia/Hypoplasia of the lungs, Congenital diaphragma...	ORPHA:2063
Spermatogenic Failure 47	Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility	OMIM:619102
Caudal Regression Sequence	Pulmonary hypoplasia	ORPHA:3027
Meckel Syndrome, Type 6	Pulmonary hypoplasia	OMIM:612284
Hypophosphatasia, Infantile	Apnea, Stillbirth, Failure to thrive, Anemia, Recurrent respiratory infections, Disproportionate ...	OMIM:241500
Mosaic Trisomy 16	Abnormal lung morphology, Craniofacial asymmetry, Hearing impairment, Pulmonary hypoplasia, Small...	ORPHA:1708
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Apnea, Hypoventilation, Short nose, Respiratory distress, Sparse lateral eyebrow, Aspiration pneu...	ORPHA:314655
Vacterl With Hydrocephalus	Anotia, Inguinal hernia, Pulmonary hypoplasia, Microtia, third degree, Femoral hernia, Intrauteri...	ORPHA:3412
Dermotrichic Syndrome	Short nose, Macrotia, Proportionate short stature, Anemia, Nail dystrophy, Depressed nasal bridge	ORPHA:99688
Stevens-Johnson Syndrome	Restrictive ventilatory defect, Dyspnea, Abnormality of neutrophils, Abnormal pleura morphology, ...	ORPHA:36426
Pentalogy Of Cantrell	Polysplenia, Pulmonary hypoplasia, Omphalocele, Congenital diaphragmatic hernia	ORPHA:1335
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Camptodactyly, Omphalocele, Postnatal growth retardation, Interphalangeal ...	ORPHA:96334
Prune Belly Syndrome	Recurrent urinary tract infections, Aplasia/Hypoplasia of the lungs, Failure to thrive, Decreased...	ORPHA:2970
Orofaciodigital Syndrome Type 4	Camptodactyly of finger, Short nose, Conductive hearing impairment, Micrognathia, Growth delay, C...	ORPHA:2753
Blomstrand Lethal Chondrodysplasia	Short nose, Rhizomelia, Natal tooth, Malar flattening, Pulmonary hypoplasia, Micrognathia, Anteve...	ORPHA:50945
Fryns Syndrome	Low-set, posteriorly rotated ears, Omphalocele, Wide nasal bridge, Pulmonary hypoplasia, Congenit...	ORPHA:2059
Thanatophoric Dysplasia Type 1	Lethal short-limbed short stature, Respiratory insufficiency, Hearing impairment, Aplasia/Hypopla...	ORPHA:1860
Rajab Interstitial Lung Disease With Brain Calcifications 1	Slender build, Emphysema, Cough, Growth delay, Respiratory insufficiency, Abnormal pulmonary inte...	OMIM:613658
Mucopolysaccharidosis-Plus Syndrome	Low anterior hairline, Nephritis, Respiratory distress, Hirsutism, Flexion contracture, Neutropen...	OMIM:617303
Fryns Syndrome	Stillbirth, Microretrognathia, Aplasia of the left hemidiaphragm, Polysplenia, Camptodactyly, Omp...	OMIM:229850
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low posterior hairline, Absent nasal bridge, Laryngeal hypoplasia, Natal tooth, Abnormality of th...	OMIM:617925
Partial Chromosome Y Deletion	Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Oligospermia	ORPHA:1646
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Severe intrauterine growth retardation, Postnatal growth retardation, Posteriorly rotated ears, R...	OMIM:241410
Dyskeratosis Congenita, Autosomal Dominant 1	Carious teeth, Sparse hair, Premature graying of hair, Pulmonary fibrosis, Interstitial pneumonit...	OMIM:127550
Spermatogenic Failure 7	Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia	OMIM:612997
Autosomal Recessive Cutis Laxa Type 1	Pyelonephritis, Emphysema, Recurrent urinary tract infections, Peripheral pulmonary artery stenos...	ORPHA:90349
Farber Disease	Respiratory distress, Recurrent upper respiratory tract infections, Flexion contracture, Abnormal...	ORPHA:333
Immunodeficiency 70	Furuncle, Decreased proportion of CD4-positive helper T cells, Recurrent sinusitis, Colitis, B ly...	OMIM:618969
Leukocyte Adhesion Deficiency Type Ii	Small earlobe, Mandibular prognathia, Recurrent urinary tract infections, Broad eyebrow, Small fo...	ORPHA:99843
Ehlers-Danlos Syndrome, Classic Type, 1	Cigarette-paper scars, Recurrent sinusitis, Umbilical hernia, Inguinal hernia, Lop ear, Short sta...	OMIM:130000
Verloove Vanhorick-Brubakk Syndrome	Micrognathia, Atresia of the external auditory canal, Aplasia/Hypoplasia of the lungs, Microtia	ORPHA:3429
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia	OMIM:619108
Spermatogenic Failure 54	Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a...	OMIM:619379
Lymphangioleiomyomatosis	Shagreen patch, Restrictive ventilatory defect, Dyspnea, Emphysema, Cough, Atelectasis, Chylothor...	ORPHA:538
Deafness-Infertility Syndrome	Male infertility, Sensorineural hearing impairment, Azoospermia	ORPHA:94064
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Pulmonary hypoplasia, Congenital diaphragmatic hernia, Abnormality of the pinna, Depressed nasal ...	OMIM:616546
Osteogenesis Imperfecta	Carious teeth, Abnormal dental enamel morphology, Small for gestational age, Micrognathia, Osteoa...	ORPHA:666
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis, Neutropenia, Anemia, Increased mea...	OMIM:618849
Lysinuric Protein Intolerance	Pulmonary hemorrhage, Hemophagocytosis, Intraalveolar phospholipid accumulation, Sparse hair, Res...	OMIM:222700
Lymphatic Malformation 7	Pulmonary edema, Anemia, Respiratory distress	OMIM:617300
Complement Component 3 Deficiency, Autosomal Recessive	Membranoproliferative glomerulonephritis, Recurrent bacterial infections	OMIM:613779
Transaldolase Deficiency	Synophrys, Pancytopenia, Thrombocytopenia, Splenomegaly, Small for gestational age, Asthma, Failu...	OMIM:606003
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Conductive hearing impairment, Neutropenia, Sensorineural hearing impairment, Recurrent bacterial...	OMIM:610738
Kaposiform Lymphangiomatosis	Abnormal lung morphology, Dyspnea, Pleural effusion, Cough, Abnormal spleen morphology, Epistaxis...	ORPHA:464329
Truncus Arteriosus	Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery hypoplasia, Intra...	ORPHA:3384
Oculopharyngodistal Myopathy 1	Restrictive ventilatory defect, Hypercapnia, Respiratory insufficiency due to muscle weakness, Bo...	OMIM:164310
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Spermatogenic Failure 1	Male infertility, Oligospermia, Cryptozoospermia	OMIM:258150
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest	OMIM:619145
Spermatogenic Failure 42	Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil...	OMIM:618745
Spermatogenic Failure 39	Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla...	OMIM:618643
Smith-Lemli-Opitz Syndrome	Abnormal dental enamel morphology, Choanal atresia, Sensorineural hearing impairment, Congenital ...	ORPHA:818
Toxic Epidermal Necrolysis	Restrictive ventilatory defect, Respiratory distress, Abnormal pleura morphology, Cough, Neutrope...	ORPHA:537
Relapsing Fever	Leukocytosis, Cough, Epistaxis, Thrombocytopenia, Anemia, Leukopenia, Neutrophilia, Hemoptysis	ORPHA:91547
Immunodeficiency 47	Splenomegaly, Sensorineural hearing impairment, Leukopenia, Recurrent bacterial infections	OMIM:300972
Stormorken Syndrome	Epistaxis, Thrombocytopenia, Asplenia, Anemia, Short stature, Howell-Jolly bodies, Prominent nose	OMIM:185070
Biotinidase Deficiency	Apnea, Skin rash, Respiratory distress, Recurrent fungal infections, Eczematoid dermatitis, Recur...	ORPHA:79241
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Adult Idiopathic Neutropenia	Monocytosis, Monocytopenia, Recurrent fungal infections, Helicobacter pylori infection, Lymphopen...	ORPHA:2688
Renal Agenesis, Bilateral	Pulmonary hypoplasia, Tracheoesophageal fistula	ORPHA:1848
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Gaucher Disease Type 1	Growth delay, Abnormal pulmonary interstitial morphology, Pancytopenia, Delayed puberty, Thromboc...	ORPHA:77259
Erythrocytosis, Familial, 1	Increased hematocrit, Exertional dyspnea, Increased hemoglobin, Increased red blood cell mass, Sp...	OMIM:133100
Proximal Spinal Muscular Atrophy	Restrictive ventilatory defect, Hypoventilation, Flexion contracture, Respiratory insufficiency d...	ORPHA:70
Atrial Septal Defect, Ostium Secundum Type	Dyspnea, Exertional dyspnea, Increased pulmonary vascular resistance, Orthopnea, Pneumonia, Breat...	ORPHA:99103
Atrial Septal Defect, Coronary Sinus Type	Anomalous pulmonary venous return, Dyspnea, Exertional dyspnea, Increased pulmonary vascular resi...	ORPHA:99104
Tetrasomy 9P	Amelogenesis imperfecta, Abnormal dental enamel morphology, Infertility, Bulbous nose, Pericardit...	ORPHA:3310
Fanconi Anemia, Complementation Group S	Low anterior hairline, Sparse hair, Anteverted nares, Long eyelashes, Failure to thrive, Short st...	OMIM:617883
Familial Benign Copper Deficiency	Wide nasal bridge, Early balding, Anemia, Short stature, Acne	ORPHA:1551
Pagod Syndrome	Pulmonary artery hypoplasia, Omphalocele, Pulmonary hypoplasia, Short stature, Congenital diaphra...	ORPHA:991
Loeys-Dietz Syndrome 4	Emphysema, Inguinal hernia, Retrognathia, Pneumothorax, Eosinophilic infiltration of the esophagus	OMIM:614816
Spondylodysplastic Ehlers-Danlos Syndrome	Restrictive ventilatory defect, Short nose, Low-set, posteriorly rotated ears, Atrophic scars, Ab...	ORPHA:536471
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Aplasia/Hypoplasia of the lungs, Short stature, Congenital diaphragmatic hernia, Abn...	ORPHA:1834
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal hair morphology, Abnormal hair quantity, Emphysema, Aplasia/H...	ORPHA:289
Isochromosomy Yp	Male infertility, Azoospermia	ORPHA:98797
Lysinuric Protein Intolerance	Hemophagocytosis, Intraalveolar phospholipid accumulation, Membranous nephropathy, Respiratory in...	ORPHA:470
Restrictive Dermopathy, Lethal	Temporomandibular joint ankylosis, Stillbirth, Absent eyelashes, Natal tooth, Choanal atresia, Ab...	OMIM:275210
Hemifacial Microsomia	Anotia, Conductive hearing impairment, Atresia of the external auditory canal, Pulmonary hypoplas...	OMIM:164210
Brucellosis	Pericarditis, Pneumonia, Weight loss, Small for gestational age, Anterior uveitis, Myocarditis, L...	ORPHA:1304
Erdheim-Chester Disease	Skin rash, Dyspnea, Pulmonary fibrosis, Pleural effusion, Cough, Weight loss, Abnormal pulmonary ...	ORPHA:35687
Rat-Bite Fever	Skin rash, Parotitis, Pustule, Endocarditis, Pericarditis, Lymphadenitis, Maculopapular exanthema...	ORPHA:31205
Fetal Akinesia Deformation Sequence 1	Camptodactyly of finger, Arthrogryposis multiplex congenita, Stillbirth, Posteriorly rotated ears...	OMIM:208150
Spondyloenchondrodysplasia With Immune Dysregulation	T lymphocytopenia, Restrictive ventilatory defect, Autoimmune thrombocytopenia, Recurrent otitis ...	OMIM:607944
Persistent Mullerian Duct Syndrome, Types I And Ii	Inguinal hernia, Male infertility	OMIM:261550
Congenital Disorder Of Glycosylation, Type Iib	Hypoventilation, Long eyelashes, Sensorineural hearing impairment, Retrognathia, Wide nose	OMIM:606056
Acrorenal-Mandibular Syndrome	Absent nipple, Posteriorly rotated ears, Pulmonary hypoplasia, Congenital diaphragmatic hernia, I...	OMIM:200980
Goodpasture Syndrome	Ground-glass opacification, Pulmonary hemorrhage, Restrictive ventilatory defect, Reticular patte...	OMIM:233450
Ulbright-Hodes Syndrome	Respiratory distress, Postnatal growth retardation, Severe intrauterine growth retardation, Pulmo...	ORPHA:3404
Wiskott-Aldrich Syndrome	Decreased proportion of CD4-positive helper T cells, Eczema, Eosinophilia, Recurrent herpes, Iron...	OMIM:301000
Smith-Lemli-Opitz Syndrome	Abnormal lung lobation, Recurrent otitis media, Growth delay, Wide nasal bridge, Posteriorly rota...	OMIM:270400
Icf Syndrome	Abnormality of neutrophils, Lymphopenia, Umbilical hernia, Anemia, Short stature, Micrognathia, R...	ORPHA:2268
Thoracoabdominal Syndrome	Ventral hernia, Pulmonary hypoplasia, Omphalocele, Congenital diaphragmatic hernia	OMIM:313850
Distal Monosomy 15Q	Growth delay, Postnatal growth retardation, Hearing impairment, Pulmonary hypoplasia, Small for g...	ORPHA:1596
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Chediak-Higashi Syndrome	Hemophagocytosis, Abnormal dense granules, Hypopigmentation of hair, Recurrent systemic pyogenic ...	OMIM:214500
Spermatogenic Failure 41	Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,...	ORPHA:529970
Renal-Hepatic-Pancreatic Dysplasia 1	Polysplenia, Pulmonary hypoplasia, Asplenia	OMIM:208540
Isochromosomy Yq	Male infertility, Azoospermia	ORPHA:98798
Al Amyloidosis	Dyspnea, Autonomic erectile dysfunction, Nonproductive cough, Weight loss, Abnormal pulmonary int...	ORPHA:85443
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities

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