Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
homeobox A5
Synonyms:
Hox-1.3

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 Hoxa5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

The table below shows human diseases predicted to be associated to Hoxa5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis medi... OMIM:604571
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis, Otitis media OMIM:300455
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... ORPHA:79127
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... OMIM:613490
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Cervical Rib
Cervical ribs OMIM:117900
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema, Increased proportion of exhausted T cells OMIM:618307
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interst... OMIM:612387
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... ORPHA:3268
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Hemivertebrae, Short r... OMIM:173800
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatitis ORPHA:60
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Abnormal bronchus morphology, Pneumonia, Bronchitis, Productive... ORPHA:3348
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Autosomal Dominant Spondylocostal Dysostosis
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ... OMIM:613953
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B... OMIM:242700
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Recurrent otitis media, R... OMIM:620321
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... OMIM:184255
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... ORPHA:70588
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... ORPHA:2902
Becker Nevus Syndrome
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... ORPHA:64755
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Ground-... ORPHA:79126
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Ground-glass opacification, Dyspnea, Plasmacytosis, Cough ORPHA:60026
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Asplenia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immo... OMIM:244400
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Narrow chest, Abnormal ... ORPHA:1354
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Mounier-Kühn Syndrome
Recurrent respiratory infections, Pneumonia, Bronchitis, Recurrent bronchopulmonary infections, T... ORPHA:3347
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu... ORPHA:2790
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi... OMIM:618695
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Coxa vara, Short palm ORPHA:168555
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough ORPHA:930
Pulmonary Blastoma
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Pulmonary infiltrates, Cough ORPHA:64741
Hypophosphatasia
Anemia, Emphysema, Respiratory insufficiency ORPHA:436
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Femoral-Facial Syndrome
Short femur, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Coxa vara, Abnormal... ORPHA:1988
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax... ORPHA:1801
Ciliary Dyskinesia, Primary, 9
Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiectasis, Decreased nas... OMIM:612444
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... ORPHA:93304
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... OMIM:618806
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Tracheal atresia, Respiratory insufficiency OMIM:601612
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Jung Syndrome
Recurrent respiratory infections, Telecanthus, Abnormal form of the vertebral bodies, Tracheal st... ORPHA:2321
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Chronic bronchitis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc... OMIM:613686
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... ORPHA:244
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Immunodeficiency 13
Lymphopenia, Nasal polyposis, Recurrent upper respiratory tract infections, Bronchiolitis obliter... OMIM:615518
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Pulmonary fibrosis, Emphysema, Lymphopenia, Thrombocytopenia OMIM:620365
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Hypochromic microcytic anemia, Crohn... OMIM:619632
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... OMIM:617405
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Narrow greater sciatic notc... OMIM:156530
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... ORPHA:2311
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:612649
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Tracheal atresia, Respiratory insufficiency ORPHA:3346
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory... OMIM:615505
Immunodeficiency 104
Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Otitis med... OMIM:608971
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Gro... OMIM:619611
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Idiopathic Pulmonary Fibrosis
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... ORPHA:2032
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal rib morpholo... ORPHA:2635
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... ORPHA:40
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Tachypnea, Tracheal calcification, Gastroesophageal reflux, Hypoplastic cervic... ORPHA:79345
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Flat capital femoral epiphysis, Pectus carinatum, Genu valgum, Irregular ve... OMIM:609223
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Common Variable Immunodeficiency
Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen... ORPHA:1572
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Lymphopenia OMIM:247800
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... OMIM:271650
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Brachyolmia, Maroteaux Type
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis ORPHA:93302
Hypomandibular Faciocranial Dysostosis
Recurrent respiratory infections, Death in infancy, Craniosynostosis, Upslanted palpebral fissure... ORPHA:1790
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Dyspnea, Splenomegaly, Emphysema, Uveitis, Restrictive ventilatory defec... ORPHA:36412
Pendred Syndrome
Hyperparathyroidism, Sensorineural hearing impairment, Hypoplasia of the cochlea, Respiratory ins... ORPHA:705
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of... OMIM:608728
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Precocious puberty, Sensorineural hearing impairment, Aplasia/H... ORPHA:2637
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Abnormal pleura morphology, Respiratory insufficiency, Pulmonary ... ORPHA:724
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... OMIM:615451
Immunodeficiency 48
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczem... OMIM:269840
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Cough, Wheezing... OMIM:613808
Vacterl/Vater Association
Bifid scrotum, Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplas... ORPHA:887
Granulomatosis With Polyangiitis
Subglottic stenosis, Sinusitis, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Resp... OMIM:608710
Fibrochondrogenesis 2
Thoracic hypoplasia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone,... OMIM:614524
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morphology, Short me... ORPHA:93351
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Platyspondyly, Abnormality of the ankle, Bilateral coxa valga, Abnormal ... ORPHA:163665
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Asthma, Erythroderma, Emphysema ORPHA:634
Keutel Syndrome
Recurrent respiratory infections, Short stature, Pulmonary artery stenosis, Recurrent sinusitis, ... ORPHA:85202
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary ... OMIM:620233
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis ORPHA:896
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis, Wormian bone... OMIM:259440
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Absent central microtubular pair morphology of respiratory motile cilia, Recurrent pneumonia, Bro... OMIM:620032
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Abnormally ossified vertebrae, Cryptorchidism, Abnormal lung lobati... ORPHA:3301
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Absent outer dynein arms, Bronch... OMIM:615500
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Hyperlordosis, Cryptorchidism, Sensorineural heari... ORPHA:3085
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Narrow... OMIM:602271
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip dislocation, ... OMIM:618395
Spondyloepimetaphyseal Dysplasia, Shohat Type
Laryngeal stenosis, Severe short stature, Abnormal bronchus morphology, Hyperlordosis, Abdominal ... ORPHA:93352
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Laryngotracheal stenosis, Tracheoesophageal fistula, Upper airway ... ORPHA:142
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Short stature, External genital hypoplasi... OMIM:615993
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98754
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Absent inner and outer dynein arms, Immotile ci... OMIM:618801
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Nasal polyposis, Cough, Absent outer dynein arms, Asthma, Bronc... OMIM:616037
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98793
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... OMIM:608647
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177904
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... OMIM:614135
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Short stature, Kyphoscoliosis, Secondary amenorrhea, Irregular vertebral endplates, Platyspondyly... OMIM:612847
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Microlissencephaly
Pneumonia ORPHA:1083
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177901
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Hurler-Scheie Syndrome
Recurrent respiratory infections, Short stature, Camptodactyly of finger, Kyphosis, Contracture o... OMIM:607015
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Telecanthus, Neonatal respiratory distress, Hypospadias, Abnormal pinna mor... OMIM:217980
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
19P13.3 Microduplication Syndrome
Epicanthus, Telecanthus, Unilateral cryptorchidism, Posteriorly rotated ears, Kyphoscoliosis, Pre... ORPHA:447980
Diaphanospondylodysostosis
Short neck, Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax, Absent or minimally ... ORPHA:66637
Ciliary Dyskinesia, Primary, 14
Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Cough,... OMIM:613807
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Hyper... ORPHA:63446
Ciliary Dyskinesia, Primary, 19
Recurrent respiratory infections, Nasal polyposis, Bronchiectasis, Absent inner and outer dynein ... OMIM:614935
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:300991
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared metaphysis, Co... OMIM:602111
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Myotubular Myopathy With Abnormal Genital Development
Bifid scrotum, Respiratory distress, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bi... OMIM:300219
Ciliary Dyskinesia, Primary, 34
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr... OMIM:617091
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit... ORPHA:51636
Geleophysic Dysplasia 3
Subglottic stenosis, Short stature, Pneumonia, Limited elbow movement, Limited wrist movement, Dy... OMIM:617809
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... OMIM:271630
Ataxia-Telangiectasia
Recurrent respiratory infections, Diabetes mellitus, Prematurely aged appearance, Telangiectasia ... ORPHA:100
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... OMIM:184252
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa vara, Tibial bo... OMIM:608940
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Abnormal circulating hormone concentration... ORPHA:280356
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... OMIM:187601
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Nasal polyposis, Productive cough, Recurrent pneumonia, Bronchiect... OMIM:617092
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... ORPHA:168549
Cerebrofaciothoracic Dysplasia
Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S... ORPHA:1394
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Ciliary Dyskinesia, Primary, 13
Absent inner dynein arms, Absent outer dynein arms, Bronchiectasis, Immotile cilia, Recurrent sin... OMIM:613193
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Dynein arm defect of respiratory motile cilia, Bronchiectasis, ... OMIM:614679
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis OMIM:618449
Xp22.3 Microdeletion Syndrome
Short stature, Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycyst... ORPHA:1643
Kuskokwim Syndrome
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Abnormal form of the vertebral b... ORPHA:1149
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Pectus excavatum, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndac... ORPHA:166024
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Atelectasi... OMIM:306400
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Bronchiectasis,... OMIM:615444
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Temple Syndrome
Short stature, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptor... ORPHA:254516
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... OMIM:608644
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Hypoplasia of penis, Decreased response to growth hormone stimulation test, Congenital hypothyroi... OMIM:601427
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... OMIM:176270
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... ORPHA:474
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2234
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic e... OMIM:617638
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Magel2-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Gastroesophageal ref... ORPHA:398069
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... ORPHA:1570
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Bone-marrow foam cells, Dyspnea, Thrombocytopenia, Splenomegaly... OMIM:607616
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Emphysema OMIM:219100
Frontometaphyseal Dysplasia 2
Subglottic stenosis, Hip contracture, Congenital hip dislocation, Abnormal pinna morphology, Feed... OMIM:617137
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Abnormal pinna morphology, Kyphoscoliosis, Rhizomelia, Sparse eyebrow, Postnata... OMIM:302960
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... OMIM:615633
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys... ORPHA:133
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Tracheomalacia, Multiple joint dislocation, Abnormal cartilage matrix, Respira... OMIM:245650
Ciliary Dyskinesia, Primary, 16
Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic ot... OMIM:614017
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Bronchie... OMIM:619126
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Short neck, ... ORPHA:93267
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Abnormal finger m... ORPHA:2319
Pontine Tegmental Cap Dysplasia
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Abnormal rib... ORPHA:2522
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... OMIM:614370
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Atelectasis, Co... ORPHA:2314
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Nocardiosis
Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem... ORPHA:31204
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... ORPHA:64744
Thoracomelic Dysplasia
Short neck, Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape... ORPHA:1803
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology ORPHA:1506
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Coxa vara, Pectus carinat... OMIM:613330
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Bell-shaped tho... OMIM:255710
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... OMIM:601457
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Epicanthus, Precocious puberty, Cryptorchidism, Synophrys, Fee... ORPHA:3306
Pulmonary Hemosiderosis
Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Iron deficiency anemia, Pulmonary... OMIM:178550
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Ptosis, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... ORPHA:90795
Aspergillosis
Sinusitis, Diffuse reticular or finely nodular infiltrations, Neutropenia, Cough, Infectious ence... ORPHA:1163
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility,... OMIM:266265
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachyp... ORPHA:36238
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... OMIM:222600
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu... OMIM:615482
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later... OMIM:269250
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Knee osteoarthritis, Schmorl's node, Irregular vertebral endplates, Platyspondyl... OMIM:604864
Fraser Syndrome
Subglottic stenosis, Laryngeal stenosis, Hypoplasia of penis, Small scrotum, Abnormal lung lobati... ORPHA:2052
Pseudoachondroplasia
Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarth... OMIM:177170
Immunodeficiency, Common Variable, 1
Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence of anti-neu... OMIM:607594
Laryngotracheoesophageal Cleft Type 4
Tracheal stenosis, Respiratory insufficiency, Tracheoesophageal fistula, Abnormal form of the ver... ORPHA:93941
Holt-Oram Syndrome
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... ORPHA:392
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the vertebral bod... ORPHA:1486
Cutis Laxa, Autosomal Dominant 1
Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis OMIM:123700
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Kyphoscoliosis, Short neck, Squared iliac bones, Small hand, Rib fusion, Hypo... OMIM:611209
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis OMIM:608957
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Feeding difficulties in infancy, Abnormal lung lobation, Abnormal form of th... ORPHA:818
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Nasal polyposis, Decreased nasal nitric oxide, Bronchiectasis, ... OMIM:620197
Fraser Syndrome 3
Hypoplasia of penis, Small scrotum, Abnormal lung lobation, Stillbirth, Low-set ears, Cryptophtha... OMIM:617667
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Ab... OMIM:618063
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Dyspnea, Iridocyclitis, Emphysema, Splenomegaly, Bronchiectasis, Abnormal pulmonary... OMIM:181000
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Bowing of the long bones, Camptodactyly of finge... ORPHA:628
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Pulmonary infiltrates, Rest... ORPHA:538
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ... ORPHA:217390
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Multiple Pterygium Syndrome, Escobar Variant
Short neck, Knee flexion contracture, Intercrural pterygium, Camptodactyly of toe, Pterygium, Dis... OMIM:265000
Larsen Syndrome
Cervical kyphosis, Knee dislocation, Shallow orbits, Conductive hearing impairment, Spina bifida ... OMIM:150250
Distal Deletion 10P
Low-set, posteriorly rotated ears, Hypoplasia of penis, Short stature, Cryptorchidism, Abnormalit... ORPHA:1580
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Microcephaly 30, Primary, Autosomal Recessive
Epicanthus, Uplifted earlobe, Long palpebral fissure, Tracheal stenosis, Intrauterine growth reta... OMIM:620183
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... OMIM:209950
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Decreased nasal nitric oxide, Bronc... OMIM:615481
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Ground-glass opaci... OMIM:300770
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthrosis OMIM:618155
Isolated Agammaglobulinemia
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn... ORPHA:229717
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat acetabular roof, Short r... OMIM:151210
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Bronchiectasi... OMIM:606763
Scedosporiosis
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... ORPHA:449280
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Temple Syndrome
Posteriorly rotated ears, Short stature, Maturity-onset diabetes of the young, Precocious puberty... OMIM:616222
Tularemia
Respiratory distress, Brain abscess, Abnormal pulmonary thoracic imaging finding, Skin rash, Pneu... ORPHA:3392
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytope... OMIM:226990
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor ORPHA:2375
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Epicanthus, Neonatal respiratory distress, Apnea, Cyanosis, Ast... ORPHA:2257
Radio-Tartaglia Syndrome
Epicanthus, Highly arched eyebrow, Long eyebrows, Precocious puberty, Conductive hearing impairme... OMIM:619312
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Pulmonary fibrosis, Secondary amenorrhea, Goiter OMIM:617175
Xp22.13P22.2 Duplication Syndrome
Short stature, Recurrent upper respiratory tract infections, Polycystic ovaries, Scoliosis, Macro... ORPHA:284180
Perching Syndrome
Respiratory distress, Cyanosis, Feeding difficulties, Scoliosis, Dysphagia OMIM:617055
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth retardation, Feeding d... ORPHA:254531
Silver-Russell Syndrome
Abnormality of male external genitalia, Low-set, posteriorly rotated ears, Hypospadias, Short sta... ORPHA:813
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Rib fusion, Hand polydactyly, Scoliosis, Abnormal vertebral morphology ORPHA:261197
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... OMIM:118100
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me... OMIM:300863
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies, Pneumonia ORPHA:464370
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax, Eosinophilic infiltration of the esophagus OMIM:614816
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... OMIM:313400
Greenberg Dysplasia
Abnormally ossified vertebrae, Abnormal pelvis bone ossification, Anterior rib punctate calcifica... ORPHA:1426
White Forelock With Malformations
Finger syndactyly, Abnormal rib morphology, Clinodactyly of the 5th finger, Sprengel anomaly, Spi... ORPHA:2475
Fusariosis
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Air crescent sign, Neutropenia, Brain ... ORPHA:228119
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... OMIM:619220
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scolio... ORPHA:2180
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abdominal pain, Ab... ORPHA:180229
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... OMIM:184100
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Low-set, posteriorly rotated ears, Precocious puberty, Postnatal growth retardation, Feeding diff... ORPHA:254525
Cystic Echinococcosis
Abdominal symptom, Multiple pulmonary cysts, Abnormal pulmonary thoracic imaging finding, Pulmona... ORPHA:400
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... OMIM:619773
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Eczema, Pneumonia, Splenomegaly, Asthma, Decreased CD4:CD8 ratio OMIM:607271
Hydrolethalus
Low-set, posteriorly rotated ears, Cryptorchidism, Low-set ears, Abnormal fallopian tube morpholo... ORPHA:2189
Basilicata-Akhtar Syndrome
Epicanthus, Telecanthus, Abnormal pinna morphology, Precocious puberty, Feeding difficulties, Chr... OMIM:301032
Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Posteriorly rotated ears, Short stature, Blepharophimosis, Crypt... OMIM:300712
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:615139
Mosaic Trisomy 14
Narrow chest, Abnormal rib morphology, Camptodactyly of finger, Short neck ORPHA:1703
Complement Factor B Deficiency
Peritonitis, Pneumonia OMIM:615561
Chromosome Xp11.23-P11.22 Duplication Syndrome
Medial flaring of the eyebrow, Posteriorly rotated ears, Precocious puberty, Synophrys, Overfolde... OMIM:300801
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... OMIM:223800
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Recurrent pneum... OMIM:300400
Bainbridge-Ropers Syndrome
Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Vomiting, Gastroe... OMIM:615485
Ollier Disease
Precocious puberty, Multiple enchondromatosis, Platyspondyly, Abnormal cartilage morphology ORPHA:296
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Streak ovary, Premature ovarian insufficiency, Duplicated lacrimal pun... ORPHA:572333
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Posteriorly rotated ears, Short stature, Cryptorchidism, Bilater... ORPHA:163979
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Prominent superficial veins, Maternal diabetes, Insulin-resi... OMIM:604367
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Abnormally low T cell receptor excision circle level, Monocytop... OMIM:618986
Septopreoptic Holoprosencephaly
Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Pulmonary hypoplasia... OMIM:619708
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom... ORPHA:64739
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Miscarriage, Abnormality of the menstrual cycle, Decreased fertility ... ORPHA:137686
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... OMIM:250420
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... ORPHA:562
Kbg Syndrome
Syndactyly, Vertebral fusion, Short neck, Rib fusion, Vertebral arch anomaly, Cutaneous syndactyl... OMIM:148050
Smith-Mccort Dysplasia 1
Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat... OMIM:607326
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
Donohue Syndrome
Precocious puberty, Postnatal growth retardation, Abdominal distention, Long penis, Hyperinsuline... OMIM:246200
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
19P13.12 Microdeletion Syndrome
Epicanthus, Hypospadias, Craniosynostosis, Precocious puberty, Cryptorchidism, Synophrys, Externa... ORPHA:254346
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Rib fusion, Ante... ORPHA:2990
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidism, Postnata... ORPHA:96184
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Atelectasis, L... OMIM:618278
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Abnormal rib morphology, ... ORPHA:3035
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Thin ribs, Bell-shaped thorax,... OMIM:166210
Mucopolysaccharidosis Type 4
Joint dislocation, Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Sho... ORPHA:582
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Atelectasis, Recurrent pneumonia, Hypoplasia of the thymus, Pulmonary hypoplasi... OMIM:613177
Activated Pi3K-Delta Syndrome
Pneumonia, Splenomegaly, Bronchiectasis, Arthritis, B lymphocytopenia, Recurrent otitis media, Re... ORPHA:397596
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... ORPHA:411703
Grant Syndrome
Joint dislocation, Bowing of the long bones, Abnormal rib morphology, Abnormal pelvic girdle bone... ORPHA:2097
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... OMIM:187600
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Prominent sup... ORPHA:528
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Short neck, P... ORPHA:3082
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form... ORPHA:2021
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Posteriorly rotated ears, Decreased res... OMIM:146510
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... OMIM:616576
Dystonia 28
Short stature, Precocious puberty, Feeding difficulties, Dysphagia, Hypothyroidism ORPHA:589618
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... OMIM:200610
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Premature pubarche, Feeding difficulties in infancy, Cryptorchidism, Gastroesophageal reflux, Gas... ORPHA:457205
Ciliary Dyskinesia, Primary, 37
Female infertility, Rhinorrhea, Goiter, Wheezing, Bronchiectasis, Chronic rhinitis, Hypothyroidis... OMIM:617577
Esophageal Atresia
Subglottic stenosis, Respiratory distress, Bronchitis, Maternal diabetes, Feeding difficulties in... ORPHA:1199
Smith-Magenis Syndrome
Short stature, Precocious puberty, Feeding difficulties in infancy, Synophrys, Abnormal form of t... ORPHA:819
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Ano... ORPHA:1302
Mucolipidosis Iii Gamma
Short neck, Flat capital femoral epiphysis, Hyperlordosis, Kyphosis, Pectus carinatum, Genu valgu... OMIM:252605
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... OMIM:300853
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Genu valgum, Hip dyspl... OMIM:619698
Immunodeficiency 62
Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Increa... OMIM:618459
Hypersulfaturia
Costochondral pain OMIM:620372
Seizures, Cortical Blindness, And Microcephaly Syndrome
Bronchiectasis OMIM:616632
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Air crescent sign, Colitis, Cough, Neutropenia,... ORPHA:73263
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... OMIM:268310
High Altitude Pulmonary Edema
Nausea and vomiting, Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Coug... ORPHA:330012
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Bruck Syndrome 1
Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow flexion contract... OMIM:259450
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... ORPHA:2759
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... OMIM:253000
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Thrombocytopenia, Recurrent... ORPHA:333
Melnick-Needles Syndrome
Bowing of the long bones, Delayed cranial suture closure, Coxa valga, Short thorax, Abnormal rib ... ORPHA:2484
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Short stature, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Secondary ame... OMIM:268020
Achondrogenesis Type 1B
Short neck, Short thorax, Abnormal rib morphology, Short foot, Narrow chest ORPHA:93298
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Flared metaphysis, Vertebral c... OMIM:602557
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Bilateral ptosis, Feeding... ORPHA:254875
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Relapsing Polychondritis
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Atelectasis, Dyspnea, Myocarditis, He... ORPHA:728
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Telecanthus, Precocious puberty, Cryptorchidism, Feeding difficulties, Upslanted palpebral fissur... OMIM:620073
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... ORPHA:50251
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Nausea and vomiting, Metrorrhagia, Anorexia, Precocious puberty, Abdomi... ORPHA:370348
3M Syndrome
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Short n... ORPHA:2616
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... OMIM:265120
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology OMIM:601076
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Abnormal for... ORPHA:2876
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Carpenter Syndrome 1
Epicanthus, Telecanthus, Abnormal pinna morphology, External genital hypoplasia, Sagittal cranios... OMIM:201000
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal... OMIM:144750
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... ORPHA:70578
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Ciliary dyskinesia, Abnormal respiratory motile cilium morpho... OMIM:215520
Cartilage-Hair Hypoplasia
Low-set, posteriorly rotated ears, Epicanthus, Abnormally ossified vertebrae, Biconvex vertebral ... ORPHA:175
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Ground-glass opacification, Nonproductive coug... ORPHA:454836
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Abnormal endome... ORPHA:314478
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Acrocapitofemoral Dysplasia
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... OMIM:607778
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Neutropenia OMIM:193670
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... OMIM:618394
Immunodeficiency 40
Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, Pulmonary infiltrates, ... OMIM:616433
Lujo Hemorrhagic Fever
Respiratory distress, Maculopapular exanthema, Skin rash, Crackles, Atelectasis, Fulminant hepati... ORPHA:319213
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Pulmonary infiltrates, Bronchiectasis, Cough OMIM:619468
Cardiocranial Syndrome, Pfeiffer Type
Low-set, posteriorly rotated ears, Contracture of the proximal interphalangeal joint of the 2nd f... ORPHA:2872
Ciliary Dyskinesia, Primary, 6
Recurrent respiratory infections, Sinusitis, Absent/shortened outer dynein arms, Abnormal ciliary... OMIM:610852
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... OMIM:206900
Central Precocious Puberty In Male
Abnormal response to gonadotropin-releasing hormone stimulation test, Pituitary microadenoma, Abn... ORPHA:649929
Hydrolethalus Syndrome 1
Hypospadias, Abnormal pinna morphology, Bifid uterus, Abnormal lung lobation, Stillbirth, Adrenal... OMIM:236680
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Bronchiectasis, T lymph... OMIM:618108
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Wormian bones, Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid proce... OMIM:300232
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly, Increased proportion of memory T... OMIM:618982
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Slc35A2-Cdg
Short stature, Camptodactyly of finger, Craniosynostosis, Precocious puberty, Sensorineural heari... ORPHA:356961
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respirat... OMIM:608184
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... OMIM:613101
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Ovarian cyst, Menorrhagia, Bruising susceptibility, Joint... ORPHA:327
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Kyphosis, Abnormal rib morphology, Abnormal form o... ORPHA:2050
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Oxygen desaturation on exertio... ORPHA:60025
Meier-Gorlin Syndrome 6
Tracheobronchomalacia, Recurrent respiratory infections, Emphysema OMIM:616835
Pparg-Related Familial Partial Lipodystrophy
Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Insulin-resistant diabetes mellitus, Secondar... ORPHA:79083
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... ORPHA:486
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Vertebral fusion, Sacral di... OMIM:213980
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Emphysema ORPHA:357074
Diarrhea 12, With Microvillus Atrophy
Respiratory tract infection, Bronchiectasis OMIM:619445
Precocious Puberty, Central, 2
Premature thelarche, Premature pubarche OMIM:615346
Optic Pathway Glioma
Precocious puberty, Growth delay, Vomiting, Nausea ORPHA:2086
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent upper respiratory tract infections, B lymphocytopenia, Pneumonia, Chronic bronchitis OMIM:614069
Cog1-Cdg
Irregularity of vertebral bodies, Kyphoscoliosis, Coxa valga, Short neck, Rib fusion, Posterior r... ORPHA:263508
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Preeclampsia
Helicobacter pylori infection, Abdominal pain, Polycystic ovaries, Type I diabetes mellitus, Intr... ORPHA:275555
Bangstad Syndrome
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increa... ORPHA:1227
Cowden Syndrome 6
Hyperthyroidism, Goiter, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, ... OMIM:615109
Cowden Syndrome 5
Hyperthyroidism, Goiter, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, ... OMIM:615108
Dentici-Novelli Neurodevelopmental Syndrome
Precocious puberty, Macrotia, Upslanted palpebral fissure, Hearing impairment OMIM:619877
Atelosteogenesis Type I
Joint dislocation, Laryngeal stenosis, Telecanthus, Rhizomelia, Laryngotracheal stenosis, Coronal... ORPHA:1190
Melioidosis
Foot osteomyelitis, Brain abscess, Lung abscess, Liver abscess, Pneumonia, Respiratory tract infe... ORPHA:31202
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Narrow joint spaces of the elbow, Hypospadias, Decreased response to growth hormone stimulation t... ORPHA:96182
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Ground-glass opacification, Respiratory tr... ORPHA:79128
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Keutel Syndrome
Sinusitis, Recurrent bronchitis, Pulmonary artery hypoplasia, Recurrent otitis media, Emphysema, ... OMIM:245150
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis... ORPHA:169160
Aicardi Syndrome
Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Bifid r... ORPHA:50
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Absent circulating B cells, Recu... OMIM:620282
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Chst3-Related Skeletal Dysplasia
Barrel-shaped chest, Short metacarpal, Enlarged joints, Kyphoscoliosis, Abnormality of the elbow,... ORPHA:263463
Osteogenesis Imperfecta, Type Xxi
Barrel-shaped chest, Coxa valga, Bowing of the legs, Pectus excavatum, Coxa vara, Bell-shaped tho... OMIM:619131
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sa... OMIM:200600
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Precocious puberty, Scoliosis, Hearing impairment ORPHA:457260
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Choanal Atresia
Subglottic stenosis, Recurrent respiratory infections, Respiratory distress, Cyanosis, Craniosyno... ORPHA:137914
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Posteriorly rotated ears, Dyspnea, Respiratory failure, Low-set ears, Intra... ORPHA:1832
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus, Death in infancy OMIM:268650
9P13 Microdeletion Syndrome
Epicanthus, Short stature, External genital hypoplasia, Highly arched eyebrow, Precocious puberty... ORPHA:324313
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Short neck, Pectus excavatum, Pectus carinatum, Cervical ribs OMIM:609654
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertensio... ORPHA:258
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Beaded ribs, Short long bone... OMIM:616229
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Luscan-Lumish Syndrome
Short stature, Irregular menstruation, Advanced ossification of carpal bones, Polycystic ovaries,... OMIM:616831
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Recurrent pneumonia, Respiratory insufficiency, Pyelonephritis, Emphysema, Peripher... ORPHA:90349
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Short palm, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Thin ribs, Metaphyseal cu... ORPHA:163966
Immunodeficiency 102
Recurrent skin infections, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infecti... OMIM:301082
Sarcoidosis
Abnormal nasal mucosa morphology, Abnormal lung morphology, Increased T cell count, Uveitis, Tubu... ORPHA:797
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Abnormality of the pulmonary artery ORPHA:363618
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint dislocation, Repeated pneumothoraces, Large joint dislocatio... ORPHA:536467
Cooper-Jabs Syndrome
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Abno... ORPHA:1488
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology ORPHA:195
Achondrogenesis Type 1A
Multiple rib fractures, Short neck, Short thorax, Short foot, Narrow chest, Short palm ORPHA:93299
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Pneumonia, Eczema, Pure... ORPHA:436159
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Cowden Syndrome 1
Hyperthyroidism, Hearing impairment, Kyphosis, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovari... OMIM:158350
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Autosomal Recessive Robinow Syndrome
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Syno... ORPHA:1507
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Growth delay, Gastroesophageal ref... ORPHA:2414
Proteus-Like Syndrome
Thymus hyperplasia, Genu recurvatum, Abnormality of the parathyroid gland, Polycystic ovaries, Li... ORPHA:2969
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo... OMIM:619752
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... ORPHA:2347
Global Developmental Delay With Speech And Behavioral Abnormalities
Supernumerary nipple, Precocious puberty, Cryptorchidism, Downslanted palpebral fissures, Hearing... OMIM:619243
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Thin ribs, Femoral bowing, Biconcave vertebral bodies, Wormian bones, V... OMIM:617952
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:79085
Short-Rib Thoracic Dysplasia 12
Epicanthus, Posteriorly rotated ears, Abnormal pinna morphology, Atelectasis, Respiratory insuffi... OMIM:269860
Emphysema, Congenital Lobar
Respiratory distress, Bronchial cartilage hypoplasia OMIM:130710
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h...