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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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, 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 Similarity of
phenotypes
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